Excel File Text File *Disease is associated/modeled with this Gene or a homolog. More...
			Disease Term	Human Homologs	Mouse Homologs	Mouse Models	Homology Source
			achondrogenesis type II	COL2A1*	Col2a1*	1 model	Alliance of Genome Resources
			adult-onset autosomal dominant demyelinating leukodystrophy	LMNB1*	Lmnb1*	1 model	Alliance of Genome Resources
			advanced sleep phase syndrome 1	PER2*	Per2*	1 model	Alliance of Genome Resources
			age related macular degeneration 12	CX3CR1*	Cx3cr1*	2 models	Alliance of Genome Resources
			age related macular degeneration 4	CFH*	Cfh*, Cfhr4	1 model	Alliance of Genome Resources
			Alexander disease	GFAP*	Gfap*	4 models	Alliance of Genome Resources
			Alzheimer's disease 3	PSEN1*	Psen1*	6 models	Alliance of Genome Resources
			amelogenesis imperfecta type 1B	ENAM*	Enam*	6 models	Alliance of Genome Resources
			amyotrophic lateral sclerosis type 1	SOD1*	Sod1*	2 models	Alliance of Genome Resources
			ankyloblepharon-ectodermal defects-cleft lip/palate syndrome	TP63*	Trp63*	1 model	Alliance of Genome Resources
			ankyrin-B-related cardiac arrhythmia	ANK2*	Ank2*	1 model	Alliance of Genome Resources
			antithrombin III deficiency	SERPINC1*	Serpinc1*	1 model	Alliance of Genome Resources
			arrhythmogenic right ventricular dysplasia 10	DSG2*	Dsg2*	1 model	Alliance of Genome Resources
			arrhythmogenic right ventricular dysplasia 12	JUP*	Jup*	4 models	Alliance of Genome Resources
			arrhythmogenic right ventricular dysplasia 8	DSP*	Dsp*	1 model	Alliance of Genome Resources
			atrial heart septal defect 2	GATA4*	Gata4*	1 model	Alliance of Genome Resources
			atrial heart septal defect 7	NKX2-5*	Nkx2-5*	2 models	Alliance of Genome Resources
			autoimmune interstitial lung, joint, and kidney disease	COPA*	Copa*	1 model	Alliance of Genome Resources
			autosomal dominant auditory neuropathy 1	DIAPH3*	Diaph3*	2 models	Alliance of Genome Resources
			autosomal dominant congenital deafness with onychodystrophy	ATP6V1B2*	Atp6v1b2*	2 models	Alliance of Genome Resources
			autosomal dominant distal hereditary motor neuronopathy 2	HSPB8*	Hspb8*	1 model	Alliance of Genome Resources
			autosomal dominant familial periodic fever	TNFRSF1A*	Tnfrsf1a*	3 models	Alliance of Genome Resources
			autosomal dominant hypocalcemia 1	CASR*	Casr*	2 models	Alliance of Genome Resources
			autosomal dominant hypocalcemia 2	GNA11*	Gna11*	2 models	Alliance of Genome Resources
			autosomal dominant hypophosphatemic rickets	FGF23*	Fgf23*	2 models	Alliance of Genome Resources
			autosomal dominant intellectual developmental disorder 26	AUTS2*	Auts2*	1 model	Alliance of Genome Resources
			autosomal dominant intellectual developmental disorder 38	EEF1A2*	Eef1a2*	1 model	Alliance of Genome Resources
			autosomal dominant intellectual developmental disorder 39	MYT1L*	Myt1l*	2 models	Alliance of Genome Resources
			autosomal dominant intellectual developmental disorder 7	DYRK1A*	Dyrk1a*	1 model	Alliance of Genome Resources
			autosomal dominant keratitis-ichthyosis-deafness syndrome	GJB2*	Gjb2*	1 model	Alliance of Genome Resources
			autosomal dominant nocturnal frontal lobe epilepsy 3	CHRNB2*	Chrnb2*	2 models	Alliance of Genome Resources
			autosomal dominant nonsyndromic deafness 12	TECTA*	Tecta*	4 models	Alliance of Genome Resources
			autosomal dominant nonsyndromic deafness 13	COL11A2*	Col11a2*	1 model	Alliance of Genome Resources
			autosomal dominant nonsyndromic deafness 22	MYO6*	Myo6*	2 models	Alliance of Genome Resources
			autosomal dominant nonsyndromic deafness 25	SLC17A8*	Slc17a8*	1 model	Alliance of Genome Resources
			autosomal dominant nonsyndromic deafness 36	TMC1*	Tmc1*	3 models	Alliance of Genome Resources
			autosomal dominant nonsyndromic deafness 41	P2RX2*	P2rx2*	1 model	Alliance of Genome Resources
			autosomal dominant nonsyndromic deafness 67	OSBPL2*	Osbpl2*	1 model	Alliance of Genome Resources
			autosomal dominant nonsyndromic deafness 9	COCH*	Coch*	1 model	Alliance of Genome Resources
			autosomal dominant osteopetrosis 2	CLCN7*	Clcn7*	7 models	Alliance of Genome Resources
			autosomal dominant polycystic kidney disease	PKD2*	Pkd2*	1 model	Alliance of Genome Resources
			autosomal dominant pseudohypoaldosteronism type 1	NR3C2*	Nr3c2*	1 model	Alliance of Genome Resources
			Axenfeld-Rieger syndrome type 1	PITX2*	Pitx2*	6 models	Alliance of Genome Resources
			Bannayan-Riley-Ruvalcaba syndrome	PTEN*	Pten*	3 models	Alliance of Genome Resources
			Beare-Stevenson cutis gyrata syndrome	FGFR2*	Fgfr2*	1 model	Alliance of Genome Resources
			Birt-Hogg-Dube syndrome	FLCN*	Flcn*	2 models	Alliance of Genome Resources
			Bosch-Boonstra-Schaaf optic atrophy syndrome	NR2F1*	Nr2f1*	1 model	Alliance of Genome Resources
			brachydactyly type A1	IHH*	Ihh*	1 model	Alliance of Genome Resources
			brachydactyly type A1C	GDF5*	Gdf5*	1 model	Alliance of Genome Resources
			brachydactyly type A2	GDF5*	Gdf5*	1 model	Alliance of Genome Resources
			brachydactyly type C	GDF5*	Gdf5*	1 model	Alliance of Genome Resources
			brain small vessel disease 1	COL4A1*	Col4a1*	1 model	Alliance of Genome Resources
			branchiootorenal syndrome	SIX1*	Six1*	1 model	Alliance of Genome Resources
			branchiootorenal syndrome	EYA1*	Eya1*	4 models	Alliance of Genome Resources
			Brugada syndrome 1	SCN5A*	Scn5a*	2 models	Alliance of Genome Resources
			Brugada syndrome 7	SCN3B*	Scn3b*	1 model	Alliance of Genome Resources
			bullous congenital ichthyosiform erythroderma	KRT2*	Krt2*	2 models	Alliance of Genome Resources
			CADASIL 1	NOTCH3*	Notch3*	6 models	Alliance of Genome Resources
			campomelic dysplasia	SOX9*	Sox9*	9 models	Alliance of Genome Resources
			Carney complex	PRKAR1A*	Prkar1a*	4 models	Alliance of Genome Resources
			cataract 10 multiple types	CRYBA1*	Cryba1*	2 models	Alliance of Genome Resources
			cataract 14 multiple types	GJA3*	Gja3*	2 models	Alliance of Genome Resources
			cataract 15 multiple types	MIP*	Mip*	7 models	Alliance of Genome Resources
			cataract 16 multiple types	CRYAB*	Cryab*	1 model	Alliance of Genome Resources
cataract 1 multiple types	GJA8*	Gja8*	4 models	Alliance of Genome Resources
cataract 20 multiple types	CRYGS*	Crygs*	3 models	Alliance of Genome Resources
cataract 21 multiple types	MAF*	Maf*	1 model	Alliance of Genome Resources
cataract 2 multiple types	CRYGC*	Crygc*	2 models	Alliance of Genome Resources
cataract 30	VIM*	Vim*	1 model	Alliance of Genome Resources
cataract 39 multiple types	CRYGB*	Crygb*	6 models	Alliance of Genome Resources
cataract 3 multiple types	CRYBB2*	Crybb2*	3 models	Alliance of Genome Resources
cataract 4 multiple types	CRYGD*	Crygd*, Cryge, Crygf	2 models	Alliance of Genome Resources
cataract 5 multiple types	HSF4*	Hsf4*	2 models	Alliance of Genome Resources
cataract 6 multiple types	EPHA2*	Epha2*	1 model	Alliance of Genome Resources
cataract 9 multiple types	CRYAA*	Cryaa*	9 models	Alliance of Genome Resources
central precocious puberty 2	MKRN3*	Mkrn3*	1 model	Alliance of Genome Resources
cerebellar ataxia type 42	CACNA1G*	Cacna1g*	2 models	Alliance of Genome Resources
cerebrocostomandibular syndrome	SNRPB*	Snrpb*	1 model	Alliance of Genome Resources
Charcot-Marie-Tooth disease axonal type 2K	GDAP1*	Gdap1*	1 model	Alliance of Genome Resources
Charcot-Marie-Tooth disease axonal type 2O	DYNC1H1*	Dync1h1*	1 model	Alliance of Genome Resources
Charcot-Marie-Tooth disease axonal type 2P	LRSAM1*	Lrsam1*	1 model	Alliance of Genome Resources
Charcot-Marie-Tooth disease axonal type 2Q	DHTKD1*	Dhtkd1*	2 models	Alliance of Genome Resources
Charcot-Marie-Tooth disease axonal type 2Z	MORC2*	Morc2a*, Morc2b	1 model	Alliance of Genome Resources
Charcot-Marie-Tooth disease dominant intermediate C	YARS1*	Yars1*	1 model	Alliance of Genome Resources
Charcot-Marie-Tooth disease type 1A	PMP22*	Pmp22*	6 models	Alliance of Genome Resources
Charcot-Marie-Tooth disease type 1B	MPZ*	Mpz*	10 models	Alliance of Genome Resources
Charcot-Marie-Tooth disease type 1C	LITAF*	Litaf*	1 model	Alliance of Genome Resources
Charcot-Marie-Tooth disease type 1E	PMP22*	Pmp22*	1 model	Alliance of Genome Resources
Charcot-Marie-Tooth disease type 2A1	KIF1B*	Kif1b*	1 model	Alliance of Genome Resources
Charcot-Marie-Tooth disease type 2A2A	MFN2*	Mfn2*	1 model	Alliance of Genome Resources
Charcot-Marie-Tooth disease type 2B	RAB7A*	Rab7*	1 model	Alliance of Genome Resources
Charcot-Marie-Tooth disease type 2D	GARS1*	Gars1*	4 models	Alliance of Genome Resources
Charcot-Marie-Tooth disease type 2E	NEFL*	Nefl*	1 model	Alliance of Genome Resources
Charcot-Marie-Tooth disease type 3	PMP22*	Pmp22*	1 model	Alliance of Genome Resources
Charcot-Marie-Tooth disease type 3	MPZ*	Mpz*	3 models	Alliance of Genome Resources
Charcot-Marie-Tooth disease type 4E	EGR2*	Egr2*	2 models	Alliance of Genome Resources
cherubism	SH3BP2*	Sh3bp2*	2 models	Alliance of Genome Resources
CINCA Syndrome	NLRP3*	Nlrp3*	1 model	Alliance of Genome Resources
cleidocranial dysplasia	RUNX2*	Runx2*	4 models	Alliance of Genome Resources
Clouston syndrome	GJB6*	Gjb6*	1 model	Alliance of Genome Resources
Coffin-Siris syndrome 1	ARID1B*	Arid1b*	1 model	Alliance of Genome Resources
complex cortical dysplasia with other brain malformations 4	TUBG1*	Tubg1*	1 model	Alliance of Genome Resources
complex cortical dysplasia with other brain malformations 7	TUBB2B*	Tubb2b*	1 model	Alliance of Genome Resources
congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	PBX1*	Pbx1*	1 model	Alliance of Genome Resources
congenital central hypoventilation syndrome	PHOX2B*	Phox2b*	2 models	Alliance of Genome Resources
congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	CDK13*	Cdk13*	1 model	Alliance of Genome Resources
congenital megabladder	MYOCD*	Myocd*	2 models	Alliance of Genome Resources
congenital muscular dystrophy due to LMNA mutation	LMNA*	Lmna*	1 model	Alliance of Genome Resources
congenital myasthenic syndrome 3A	CHRND*	Chrnd*	1 model	Alliance of Genome Resources
congenital myasthenic syndrome 4A	CHRNE*	Chrne*	2 models	Alliance of Genome Resources
congenital myopathy 1A	RYR1*	Ryr1*	3 models	Alliance of Genome Resources
congenital stationary night blindness autosomal dominant 1	RHO*	Rho*	1 model	Alliance of Genome Resources
congenital stationary night blindness autosomal dominant 2	PDE6B*	Pde6b*	14 models	Alliance of Genome Resources
Cornelia de Lange syndrome 1	NIPBL*	Nipbl*	2 models	Alliance of Genome Resources
Cornelia de Lange syndrome 3	SMC3*	Smc3*	1 model	Alliance of Genome Resources
cortisone reductase deficiency 2	HSD11B1*	Hsd11b1*	1 model	Alliance of Genome Resources
Costello syndrome	HRAS*	Hras*	2 models	Alliance of Genome Resources
dentinogenesis imperfecta	DSPP*	Dspp*	1 model	Alliance of Genome Resources
Denys-Drash syndrome	WT1*	Wt1*	6 models	Alliance of Genome Resources
developmental and epileptic encephalopathy 14	KCNT1*	Kcnt1*	2 models	Alliance of Genome Resources
developmental and epileptic encephalopathy 17	GNAO1*	Gnao1*	3 models	Alliance of Genome Resources
developmental and epileptic encephalopathy 54	HNRNPU*	Hnrnpu*	1 model	Alliance of Genome Resources
developmental and epileptic encephalopathy 7	KCNQ2*	Kcnq2*	1 model	Alliance of Genome Resources
Diamond-Blackfan anemia 6	RPL5*	Rpl5*	1 model	Alliance of Genome Resources
Diamond-Blackfan anemia 7	RPL11*	Rpl11*	1 model	Alliance of Genome Resources
DiGeorge syndrome	TBX1*	Tbx1*	23 models	Alliance of Genome Resources
dilated cardiomyopathy 1A	LMNA*	Lmna*	4 models	Alliance of Genome Resources
dilated cardiomyopathy 1C	LDB3*	Ldb3*	2 models	Alliance of Genome Resources
dilated cardiomyopathy 1CC	NEXN*	Nexn*	4 models	Alliance of Genome Resources
dilated cardiomyopathy 1D	TNNT2*	Tnnt2*	3 models	Alliance of Genome Resources
dilated cardiomyopathy 1DD	RBM20*	Rbm20*	3 models	Alliance of Genome Resources
dilated cardiomyopathy 1HH	BAG3*	Bag3*	2 models	Alliance of Genome Resources
dilated cardiomyopathy 1R	ACTC1*	Actc1*	1 model	Alliance of Genome Resources
dilated cardiomyopathy 1Y	TPM1*	Tpm1*	2 models	Alliance of Genome Resources
Doyne honeycomb retinal dystrophy	EFEMP1*	Efemp1*	4 models	Alliance of Genome Resources
Dravet syndrome	SCN1A*	Scn1a*	8 models	Alliance of Genome Resources
Duane-radial ray syndrome	SALL4*	Sall4*	4 models	Alliance of Genome Resources
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3	TP63*	Trp63*	4 models	Alliance of Genome Resources
Ehlers-Danlos syndrome classic type 1	COL5A1*	Col5a1*	3 models	Alliance of Genome Resources
epidermolysis bullosa simplex Ogna type	PLEC*	Plec*	4 models	Alliance of Genome Resources
episodic kinesigenic dyskinesia 1	PRRT2*	Prrt2*	2 models	Alliance of Genome Resources
familial cold autoinflammatory syndrome 1	NLRP3*	Nlrp3*	2 models	Alliance of Genome Resources
familial cold autoinflammatory syndrome 4	NLRC4*	Nlrc4*	1 model	Alliance of Genome Resources
familial encephalopathy with neuroserpin inclusion bodies	SERPINI1*	Serpini1*	1 model	Alliance of Genome Resources
familial episodic pain syndrome 3	SCN11A*	Scn11a*	1 model	Alliance of Genome Resources
familial hyperinsulinemic hypoglycemia 3	GCK*	Gck*	1 model	Alliance of Genome Resources
familial hypocalciuric hypercalcemia 1	CASR*	Casr*	7 models	Alliance of Genome Resources
familial temporal lobe epilepsy 1	LGI1*	Lgi1*	4 models	Alliance of Genome Resources
fibrodysplasia ossificans progressiva	ACVR1*	Acvr1*	5 models	Alliance of Genome Resources
focal segmental glomerulosclerosis 1	ACTN4*	Actn4*	1 model	Alliance of Genome Resources
focal segmental glomerulosclerosis 2	TRPC6*	Trpc6*	3 models	Alliance of Genome Resources
GAND syndrome	GATAD2B*	Gatad2b*	1 model	Alliance of Genome Resources
gnathodiaphyseal dysplasia	ANO5*	Ano5*	2 models	Alliance of Genome Resources
Greig cephalopolysyndactyly syndrome	GLI3*	Gli3*	1 model	Alliance of Genome Resources
Grn-related frontotemporal lobar degeneration with Tdp43 inclusions	GRN*	Grn*	3 models	Alliance of Genome Resources
Hajdu-Cheney syndrome	NOTCH2*	Notch2*	4 models	Alliance of Genome Resources
hand-foot-genital syndrome	HOXA13*	Hoxa13*	5 models	Alliance of Genome Resources
hereditary hemorrhagic telangiectasia	ENG*	Eng*	6 models	Alliance of Genome Resources
hereditary hemorrhagic telangiectasia	ACVRL1*	Acvrl1*	5 models	Alliance of Genome Resources
hereditary multiple exostoses	EXT1*	Ext1*	5 models	Alliance of Genome Resources
hereditary neuropathy with liability to pressure palsies	PMP22*	Pmp22*	3 models	Alliance of Genome Resources
hereditary neutrophilia	CSF3R*	Csf3r*	1 model	Alliance of Genome Resources
hereditary spastic paraplegia 13	HSPD1*	Hspd1*	1 model	Alliance of Genome Resources
hereditary spastic paraplegia 31	REEP1*	Reep1*	1 model	Alliance of Genome Resources
hereditary spastic paraplegia 4	SPAST*	Spast*	3 models	Alliance of Genome Resources
hereditary spastic paraplegia 80	UBAP1*	Ubap1*	1 model	Alliance of Genome Resources
hereditary spherocytosis type 1	ANK1*	Ank1*	4 models	Alliance of Genome Resources
holoprosencephaly 11	CDON*	Cdon*	8 models	Alliance of Genome Resources
holoprosencephaly 2	SIX3*	Six3*	4 models	Alliance of Genome Resources
holoprosencephaly 3	SHH*	Shh*	3 models	Alliance of Genome Resources
holoprosencephaly 5	ZIC2*	Zic2*	3 models	Alliance of Genome Resources
Holt-Oram syndrome	TBX5*	Tbx5*	3 models	Alliance of Genome Resources
hyperekplexia 1	GLRA1*	Glra1*	4 models	Alliance of Genome Resources
hyperekplexia 3	SLC6A5*	Slc6a5*	2 models	Alliance of Genome Resources
hyper IgE recurrent infection syndrome 1	STAT3*	Stat3*	1 model	Alliance of Genome Resources
hypochondroplasia	FGFR3*	Fgfr3*	1 model	Alliance of Genome Resources
hypomyelinating leukodystrophy 6	TUBB4A*	Tubb4a*	3 models	Alliance of Genome Resources
hypotrichosis 13	KRT71*	Krt71*	1 model	Alliance of Genome Resources
immunodeficiency 15A	IKBKB*	Ikbkb*	2 models	Alliance of Genome Resources
immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia	RAC2*	Rac2*	1 model	Alliance of Genome Resources
isolated mitochondrial myopathy	CHCHD10*	Chchd10*	1 model	Alliance of Genome Resources
juvenile polyposis syndrome	BMPR1A*	Bmpr1a*	1 model	Alliance of Genome Resources
juvenile polyposis syndrome	SMAD4*	Smad4*	1 model	Alliance of Genome Resources
KINSSHIP syndrome	AFF3*	Aff3*	1 model	Alliance of Genome Resources
Kleefstra syndrome 1	EHMT1*	Ehmt1*	2 models	Alliance of Genome Resources
Koolen de Vries syndrome	KANSL1*	Kansl1*	1 model	Alliance of Genome Resources
Li-Fraumeni syndrome	TP53*	Trp53*	8 models	Alliance of Genome Resources
long QT syndrome 1	KCNQ1*	Kcnq1*	1 model	Alliance of Genome Resources
long QT syndrome 3	SCN5A*	Scn5a*	4 models	Alliance of Genome Resources
Lynch syndrome	MSH2*	Msh2*	5 models	Alliance of Genome Resources
Lynch syndrome	MLH1*	Mlh1*	2 models	Alliance of Genome Resources
macrocephaly-autism syndrome	PTEN*	Pten*	2 models	Alliance of Genome Resources
malignant hyperthermia	RYR1*	Ryr1*	5 models	Alliance of Genome Resources
Marsili syndrome	ZFHX2*	Zfhx2*	2 models	Alliance of Genome Resources
maturity-onset diabetes of the young type 1	HNF4A*	Hnf4a*	1 model	Alliance of Genome Resources
maturity-onset diabetes of the young type 2	GCK*	Gck*	29 models	Alliance of Genome Resources
maturity-onset diabetes of the young type 3	HNF1A*	Hnf1a*	1 model	Alliance of Genome Resources
maturity-onset diabetes of the young type 4	PDX1*	Pdx1*	1 model	Alliance of Genome Resources
mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations	MAST1*	Mast1*	1 model	Alliance of Genome Resources
Mowat-Wilson syndrome	ZEB2*	Zeb2*	1 model	Alliance of Genome Resources
Muenke Syndrome	FGFR3*	Fgfr3*	6 models	Alliance of Genome Resources
multicentric carpotarsal osteolysis syndrome	MAFB*	Mafb*	1 model	Alliance of Genome Resources
multiple endocrine neoplasia type 1	MEN1*	Men1*	7 models	Alliance of Genome Resources
multiple endocrine neoplasia type 2B	RET*	Ret*	2 models	Alliance of Genome Resources
multiple epiphyseal dysplasia 5	MATN3*	Matn3*	1 model	Alliance of Genome Resources
myoclonic dystonia 11	SGCE*	Sgce*	2 models	Alliance of Genome Resources
myofibrillar myopathy 1	DES*	Des*	4 models	Alliance of Genome Resources
myofibrillar myopathy 2	CRYAB*	Cryab*	4 models	Alliance of Genome Resources
myofibrillar myopathy 5	FLNC*	Flnc*	1 model	Alliance of Genome Resources
nail-patella syndrome	LMX1B*	Lmx1b*	4 models	Alliance of Genome Resources
nemaline myopathy 6	KBTBD13*	Kbtbd13*	1 model	Alliance of Genome Resources
neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	BPTF*	Bptf*	1 model	Alliance of Genome Resources
neurodevelopmental disorder with involuntary movements	GNAO1*	Gnao1*	1 model	Alliance of Genome Resources
neurofibromatosis 1	NF1*	Nf1*	17 models	Alliance of Genome Resources
neurohypophyseal diabetes insipidus	AVP*	Avp*	2 models	Alliance of Genome Resources
Noonan syndrome 1	PTPN11*	Ptpn11*	3 models	Alliance of Genome Resources
Noonan syndrome 10	LZTR1*	Lztr1*	1 model	Alliance of Genome Resources
Noonan syndrome 3	KRAS*	Kras*	1 model	Alliance of Genome Resources
Noonan syndrome 4	SOS1*	Sos1*	2 models	Alliance of Genome Resources
Noonan syndrome 5	RAF1*	Raf1*	2 models	Alliance of Genome Resources
Noonan syndrome 8	RIT1*	Rit1*	1 model	Alliance of Genome Resources
osteogenesis imperfecta type 1	COL1A1*	Col1a1*	1 model	Alliance of Genome Resources
osteogenesis imperfecta type 2	COL1A1*	Col1a1*	2 models	Alliance of Genome Resources
osteogenesis imperfecta type 3	COL1A1*	Col1a1*	1 model	Alliance of Genome Resources
osteogenesis imperfecta type 3	COL1A2*	Col1a2*	2 models	Alliance of Genome Resources
osteogenesis imperfecta type 4	COL1A1*	Col1a1*	3 models	Alliance of Genome Resources
osteogenesis imperfecta type 5	IFITM5*	Ifitm5*	1 model	Alliance of Genome Resources
pachyonychia congenita	KRT16*	Krt16*	1 model	Alliance of Genome Resources
Pallister-Hall syndrome	GLI3*	Gli3*	1 model	Alliance of Genome Resources
palmoplantar keratoderma-esophageal carcinoma syndrome	RHBDF2*	Rhbdf2*	3 models	Alliance of Genome Resources
Parkinson's disease 1	SNCA*	Snca*	6 models	Alliance of Genome Resources
Parkinson's disease 17	VPS35*	Vps35*	2 models	Alliance of Genome Resources
Parkinson's disease 4	SNCA*	Snca*	1 model	Alliance of Genome Resources
Parkinson's disease 8	LRRK2*	Lrrk2*	1 model	Alliance of Genome Resources
paroxysmal nonkinesigenic dyskinesia 1	PNKD*	Pnkd*	2 models	Alliance of Genome Resources
PCWH syndrome	SOX10*	Sox10*	1 model	Alliance of Genome Resources
Pelger-Huet anomaly	LBR*	Lbr*	1 model	Alliance of Genome Resources
permanent neonatal diabetes mellitus	KCNJ11*	Kcnj11*	3 models	Alliance of Genome Resources
permanent neonatal diabetes mellitus	INS*	Ins2*, Ins1	1 model	Alliance of Genome Resources
Pfeiffer syndrome	FGFR2*	Fgfr2*	1 model	Alliance of Genome Resources
Pfeiffer syndrome	FGFR1*	Fgfr1*	2 models	Alliance of Genome Resources
piebaldism	KIT*	Kit*	1 model	Alliance of Genome Resources
Pierpont syndrome	TBL1XR1*	Tbl1xr1*	1 model	Alliance of Genome Resources
Pitt-Hopkins syndrome	TCF4*	Tcf4*	6 models	Alliance of Genome Resources
platelet-type bleeding disorder 16	ITGA2B*	Itga2b*	1 model	Alliance of Genome Resources
platelet-type bleeding disorder 16	ITGB3*	Itgb3*	1 model	Alliance of Genome Resources
polycystic kidney disease 1	PKD1*	Pkd1*	27 models	Alliance of Genome Resources
polycystic kidney disease 2	PKD2*	Pkd2*	7 models	Alliance of Genome Resources
popliteal pterygium syndrome	IRF6*	Irf6*	2 models	Alliance of Genome Resources
progeria	LMNA*	Lmna*	14 models	Alliance of Genome Resources
progressive familial heart block type IA	SCN5A*	Scn5a*	2 models	Alliance of Genome Resources
pseudoachondroplasia	COMP*	Comp*	2 models	Alliance of Genome Resources
renal coloboma syndrome	PAX2*	Pax2*	6 models	Alliance of Genome Resources
retinitis pigmentosa 1	RP1*	Rp1*	2 models	Alliance of Genome Resources
retinitis pigmentosa 11	PRPF31*	Prpf31*	1 model	Alliance of Genome Resources
retinitis pigmentosa 13	PRPF8*	Prpf8*	2 models	Alliance of Genome Resources
retinitis pigmentosa 18	PRPF3*	Prpf3*	2 models	Alliance of Genome Resources
retinitis pigmentosa 4	RHO*	Rho*	13 models	Alliance of Genome Resources
retinitis pigmentosa 7	PRPH2*	Prph2*	3 models	Alliance of Genome Resources
rippling muscle disease 2	CAV3*	Cav3*	3 models	Alliance of Genome Resources
Rubinstein-Taybi syndrome	CREBBP*	Crebbp*	4 models	Alliance of Genome Resources
Saethre-Chotzen syndrome	TWIST1*	Twist1*	8 models	Alliance of Genome Resources
scalp-ear-nipple syndrome	KCTD1*	Kctd1*	2 models	Alliance of Genome Resources
Schnyder corneal dystrophy	UBIAD1*	Ubiad1*	2 models	Alliance of Genome Resources
sclerosteosis 2	LRP4*	Lrp4*	2 models	Alliance of Genome Resources
SHORT syndrome	PIK3R1*	Pik3r1*	1 model	Alliance of Genome Resources
Sorsby's fundus dystrophy	TIMP3*	Timp3*	2 models	Alliance of Genome Resources
Sotos syndrome 2	NFIX*	Nfix*	1 model	Alliance of Genome Resources
spinocerebellar ataxia type 1	ATXN1*	Atxn1*	1 model	Alliance of Genome Resources
spinocerebellar ataxia type 14	PRKCG*	Prkcg*	2 models	Alliance of Genome Resources
spinocerebellar ataxia type 17	TBP*	Tbp*	1 model	Alliance of Genome Resources
spinocerebellar ataxia type 2	ATXN2*	Atxn2*	1 model	Alliance of Genome Resources
spinocerebellar ataxia type 28	AFG3L2*	Afg3l2*	1 model	Alliance of Genome Resources
spinocerebellar ataxia type 5	SPTBN2*	Sptbn2*	2 models	Alliance of Genome Resources
spinocerebellar ataxia type 6	CACNA1A*	Cacna1a*	3 models	Alliance of Genome Resources
spinocerebellar ataxia type 7	ATXN7*	Atxn7*	5 models	Alliance of Genome Resources
split hand-foot malformation 1	DLX5*	Dlx5*	2 models	Alliance of Genome Resources
spondyloepiphyseal dysplasia congenita	COL2A1*	Col2a1*	7 models	Alliance of Genome Resources
STING-associated vasculopathy with onset in infancy	STING1*	Sting1*	1 model	Alliance of Genome Resources
Stormorken syndrome	STIM1*	Stim1*	1 model	Alliance of Genome Resources
Teebi hypertelorism syndrome 1	SPECC1L*	Specc1l*	2 models	Alliance of Genome Resources
tibial muscular dystrophy	TTN*	Ttn*	1 model	Alliance of Genome Resources
Tietz syndrome	MITF*	Mitf*	14 models	Alliance of Genome Resources
Timothy syndrome	CACNA1C*	Cacna1c*	1 model	Alliance of Genome Resources
torsion dystonia 1	TOR1A*	Tor1a*	4 models	Alliance of Genome Resources
torsion dystonia 6	THAP1*	Thap1*	2 models	Alliance of Genome Resources
Townes-Brocks syndrome	SALL1*	Sall1*	3 models	Alliance of Genome Resources
transthyretin amyloidosis	TTR*	Ttr*	4 models	Alliance of Genome Resources
Treacher Collins syndrome	TCOF1*	Tcof1*	2 models	Alliance of Genome Resources
trichorhinophalangeal syndrome type I	TRPS1*	Trps1*	1 model	Alliance of Genome Resources
tuberous sclerosis	TSC1*	Tsc1*	10 models	Alliance of Genome Resources
tuberous sclerosis	TSC2*	Tsc2*	9 models	Alliance of Genome Resources
tubular aggregate myopathy 1	STIM1*	Stim1*	2 models	Alliance of Genome Resources
ulnar-mammary syndrome	TBX3*	Tbx3*	1 model	Alliance of Genome Resources
vascular type Ehlers-Danlos syndrome	COL3A1*	Col3a1*	2 models	Alliance of Genome Resources
vestibular schwannomatosis	NF2*	Nf2*	1 model	Alliance of Genome Resources
Waardenburg syndrome type 1	PAX3*	Pax3*	6 models	Alliance of Genome Resources
Waardenburg syndrome type 2A	MITF*	Mitf*	14 models	Alliance of Genome Resources
Waardenburg syndrome type 4A	EDNRB*	Ednrb*	2 models	Alliance of Genome Resources
Waardenburg syndrome type 4B	EDN3*	Edn3*	3 models	Alliance of Genome Resources
Waardenburg syndrome type 4C	SOX10*	Sox10*	1 model	Alliance of Genome Resources
Weaver syndrome	EZH2*	Ezh2*	3 models	Alliance of Genome Resources
WHIM syndrome 1	CXCR4*	Cxcr4*	1 model	Alliance of Genome Resources
Williams-Beuren syndrome	EIF4H*	Eif4h*	3 models	Alliance of Genome Resources
Xia-Gibbs Syndrome	AHDC1*	Ahdc1*	1 model	Alliance of Genome Resources
			abdominal obesity-metabolic syndrome	LEP	Lep*	1 model	Alliance of Genome Resources
			abdominal obesity-metabolic syndrome	SIRT3	Sirt3*	1 model	Alliance of Genome Resources
			abdominal obesity-metabolic syndrome	PRKCI	Prkci*	1 model	Alliance of Genome Resources
			abdominal obesity-metabolic syndrome	PPARG	Pparg*	1 model	Alliance of Genome Resources
			abdominal obesity-metabolic syndrome	NEIL1	Neil1*	1 model	Alliance of Genome Resources
			abdominal obesity-metabolic syndrome	GUCY2C	Gucy2c*	1 model	Alliance of Genome Resources
			abdominal obesity-metabolic syndrome	CTF1	Ctf1*	1 model	Alliance of Genome Resources
			abdominal obesity-metabolic syndrome	SLC2A9	Slc2a9*	1 model	Alliance of Genome Resources
			abdominal obesity-metabolic syndrome 1	TP53INP1	Trp53inp1*	1 model	Alliance of Genome Resources
			abdominal obesity-metabolic syndrome 1	LEP	Lep*	3 models	Alliance of Genome Resources
			age related macular degeneration	CCL2, CCL13	Ccl2*, Ccl12	3 models	Alliance of Genome Resources
			age related macular degeneration	CCR2	Ccr2*	1 model	Alliance of Genome Resources
			age related macular degeneration	CD46	Cd46*	1 model	Alliance of Genome Resources
			age related macular degeneration	PPARGC1A	Ppargc1a*	1 model	Alliance of Genome Resources
			age related macular degeneration 1	CRYBA1	Cryba1*	1 model	Alliance of Genome Resources
			age related macular degeneration 1	VLDLR	Vldlr*	1 model	Alliance of Genome Resources
			amyotrophic lateral sclerosis type 1	VPS54	Vps54*	1 model	Alliance of Genome Resources
			amyotrophic lateral sclerosis type 1	VEGFA	Vegfa*	1 model	Alliance of Genome Resources
			amyotrophic lateral sclerosis type 1	SOD2	Sod2*	1 model	Alliance of Genome Resources
			amyotrophic lateral sclerosis type 1	SNCG	Sncg*	1 model	Alliance of Genome Resources
			arrhythmogenic right ventricular dysplasia 5	RPSA	Rpsa*	1 model	Alliance of Genome Resources
			autosomal dominant disease	FGFR3	Fgfr3*	1 model	Alliance of Genome Resources
			autosomal dominant intellectual developmental disorder	ZBTB18	Zbtb18*	1 model	Alliance of Genome Resources
			autosomal dominant intellectual developmental disorder	MBD5	Mbd5*	1 model	Alliance of Genome Resources
			autosomal dominant intellectual developmental disorder	AUTS2	Auts2*	1 model	Alliance of Genome Resources
			autosomal dominant nonsyndromic deafness 25	TRPV4	Trpv4*	1 model	Alliance of Genome Resources
			autosomal dominant nonsyndromic deafness 4A	CEACAM16	Ceacam16*	1 model	Alliance of Genome Resources
			autosomal dominant polycystic kidney disease	BICC1	Bicc1*	1 model	Alliance of Genome Resources
			autosomal dominant polycystic kidney disease	NPHP3	Nphp3*	3 models	Alliance of Genome Resources
			autosomal dominant polycystic kidney disease	MYC	Myc*, Bmyc	1 model	Alliance of Genome Resources
			Axenfeld-Rieger syndrome type 1	HMGN2	Hmgn2*, Hmgn2-ps	1 model	Alliance of Genome Resources
			Axenfeld-Rieger syndrome type 3	BMP4	Bmp4*	1 model	Alliance of Genome Resources
			cataract 2 multiple types	CRYGD	Crygd*, Cryge, Crygf	1 model	Alliance of Genome Resources
			central conducting lymphatic anomaly	MDFIC	Mdfic*	1 model	Alliance of Genome Resources
			cleidocranial dysplasia		Ccd*	2 models
			Coffin-Siris syndrome	ARID1A	Arid1a*	2 models	Alliance of Genome Resources
			congenital central hypoventilation syndrome	TLX3	Tlx3*	1 model	Alliance of Genome Resources
			DiGeorge syndrome		b2b954Clo*	1 model
			DiGeorge syndrome	NDST1	Ndst1*	1 model	Alliance of Genome Resources
			DiGeorge syndrome	ALDH1A2	Aldh1a2*	1 model	Alliance of Genome Resources
			DiGeorge syndrome	CHRD	Chrd*	1 model	Alliance of Genome Resources
			DiGeorge syndrome	CRKL	Crkl*	1 model	Alliance of Genome Resources
			DiGeorge syndrome	PLXND1	Plxnd1*	2 models	Alliance of Genome Resources
			DiGeorge syndrome		pta*	1 model
			DiGeorge syndrome	TGFBR2	Tgfbr2*	1 model	Alliance of Genome Resources
			DiGeorge syndrome	VEGFA	Vegfa*	2 models	Alliance of Genome Resources
			DiGeorge syndrome	ZNF366	Zfp366*	1 model	Alliance of Genome Resources
			DiGeorge syndrome	KAT6A	Kat6a*	2 models	Alliance of Genome Resources
			DiGeorge syndrome	HOXA3	Hoxa3*	1 model	Alliance of Genome Resources
			DiGeorge syndrome		b2b1941Clo*	1 model
			DiGeorge syndrome	DICER1	Dicer1*	1 model	Alliance of Genome Resources
			DiGeorge syndrome	DOCK1	Dock1*	1 model	Alliance of Genome Resources
			DiGeorge syndrome	FGF8	Fgf8*	1 model	Alliance of Genome Resources
			DiGeorge syndrome	FOXN1	Foxn1*	1 model	Alliance of Genome Resources
			DiGeorge syndrome		b2b2696Clo*	1 model
			dilated cardiomyopathy 1A	DOT1L	Dot1l*	1 model	Alliance of Genome Resources
			Ehlers-Danlos syndrome classic type 1	COL5A2	Col5a2*	1 model	Alliance of Genome Resources
			Ehlers-Danlos syndrome classic type 1	LUM	Lum*	2 models	Alliance of Genome Resources
			epidermolysis bullosa simplex Dowling-Meara type	KRT14	Krt14*	3 models	Alliance of Genome Resources
			epidermolysis bullosa simplex Dowling-Meara type	KRT5	Krt5*	1 model	Alliance of Genome Resources
			familial medullary thyroid carcinoma	PRLR	Prlr*	1 model	Alliance of Genome Resources
			fibrodysplasia ossificans progressiva	BMP4	Bmp4*	1 model	Alliance of Genome Resources
			Grn-related frontotemporal lobar degeneration with Tdp43 inclusions	TARDBP	Tardbp*	1 model	Alliance of Genome Resources
			hereditary multiple exostoses	EXT2	Ext2*	1 model	Alliance of Genome Resources
hereditary spherocytosis type 1	ADD2	Add2*	1 model	Alliance of Genome Resources
hereditary spherocytosis type 1	SPTA1	Spta1*	3 models	Alliance of Genome Resources
hereditary spherocytosis type 1	EPB42	Epb42*	1 model	Alliance of Genome Resources
hereditary spherocytosis type 4	SLC4A1	Slc4a1*	1 model	Alliance of Genome Resources
Holt-Oram syndrome		vsd*	2 models
hypotrichosis 4	HR	Hr*	1 model	Alliance of Genome Resources
ichthyosis vulgaris	LBR	Lbr*	1 model	Alliance of Genome Resources
idiopathic pulmonary fibrosis	TNF	Tnf*	1 model	Alliance of Genome Resources
idiopathic pulmonary fibrosis	FOSL2	Fosl2*	1 model	Alliance of Genome Resources
juvenile glaucoma	PAX6	Pax6*	1 model	Alliance of Genome Resources
lacrimoauriculodentodigital syndrome 1	FGF10	Fgf10*	1 model	Alliance of Genome Resources
Loeys-Dietz syndrome	TGFB2	Tgfb2*	2 models	Alliance of Genome Resources
Loeys-Dietz syndrome	TGFBR2	Tgfbr2*	1 model	Alliance of Genome Resources
Loeys-Dietz syndrome	TGFBR1	Tgfbr1*	1 model	Alliance of Genome Resources
maturity-onset diabetes of the young	TGM2	Tgm2*	1 model	Alliance of Genome Resources
maturity-onset diabetes of the young	MAFA	Mafa*	1 model	Alliance of Genome Resources
maturity-onset diabetes of the young	PDX1	Pdx1*	1 model	Alliance of Genome Resources
maturity-onset diabetes of the young	INS	Ins2*, Ins1	3 models	Alliance of Genome Resources
Miller-Dieker lissencephaly syndrome	PAFAH1B1	Pafah1b1*	5 models	Alliance of Genome Resources
Miller-Dieker lissencephaly syndrome	HIC1	Hic1*	1 model	Alliance of Genome Resources
Miller-Dieker lissencephaly syndrome	YWHAE	Ywhae*	2 models	Alliance of Genome Resources
Miller-Dieker lissencephaly syndrome	DPH1	Dph1*	3 models	Alliance of Genome Resources
Miller-Dieker lissencephaly syndrome	MNT	Mnt*	1 model	Alliance of Genome Resources
Muir-Torre syndrome	FHIT	Fhit*	1 model	Alliance of Genome Resources
multiple synostoses syndrome	FGF9	Fgf9*	2 models	Alliance of Genome Resources
multiple synostoses syndrome	GDF5	Gdf5*	1 model	Alliance of Genome Resources
myofibrillar myopathy 1	LDB3	Ldb3*	1 model	Alliance of Genome Resources
nail-patella syndrome	LDB1	Ldb1*	1 model	Alliance of Genome Resources
Noonan syndrome with multiple lentigines	PTPN11	Ptpn11*	3 models	Alliance of Genome Resources
ocular albinism with sensorineural deafness	MITF	Mitf*	14 models	Alliance of Genome Resources
osteogenesis imperfecta type 2	SMPD3	Smpd3*	1 model	Alliance of Genome Resources
osteogenesis imperfecta type 3	SMPD3	Smpd3*	1 model	Alliance of Genome Resources
osteogenesis imperfecta type 5	SUCO	Suco*	1 model	Alliance of Genome Resources
PCWH syndrome	MPZ	Mpz*	1 model	Alliance of Genome Resources
polycystic liver disease	UCP2	Ucp2*	1 model	Alliance of Genome Resources
polycystic liver disease	PRKCSH	Prkcsh*	1 model	Alliance of Genome Resources
popliteal pterygium syndrome	RIPK4	Ripk4*	1 model	Alliance of Genome Resources
progeria	ZMPSTE24	Zmpste24*	3 models	Alliance of Genome Resources
progeria	VCPIP1	Vcpip1*	1 model	Alliance of Genome Resources
progeria	SIRT6	Sirt6*	1 model	Alliance of Genome Resources
spinocerebellar ataxia type 27	FGF14	Fgf14*	1 model	Alliance of Genome Resources
split hand-foot malformation 1	DLX6	Dlx6*	2 models	Alliance of Genome Resources
spondyloepiphyseal dysplasia congenita	HAPLN1	Hapln1*	1 model	Alliance of Genome Resources
Stargardt disease	ELOVL4	Elovl4*	2 models	Alliance of Genome Resources
Stargardt disease	ABCA4	Abca4*	5 models	Alliance of Genome Resources
type 1 diabetes mellitus 2	IGF2	Igf2*	3 models	Alliance of Genome Resources
Ullrich congenital muscular dystrophy	COL6A1	Col6a1*	1 model	Alliance of Genome Resources
Ullrich congenital muscular dystrophy	COL6A3	Col6a3*	1 model	Alliance of Genome Resources
Waardenburg syndrome	SNAI2	Snai2*	1 model	Alliance of Genome Resources
Waardenburg syndrome	AEBP2	Aebp2*	1 model	Alliance of Genome Resources
Waardenburg syndrome type 1	MITF	Mitf*	1 model	Alliance of Genome Resources
Williams-Beuren syndrome	FZD9	Fzd9*	4 models	Alliance of Genome Resources
Williams-Beuren syndrome	DLG4	Dlg4*	1 model	Alliance of Genome Resources
Williams-Beuren syndrome		b2b370Clo*	1 model
Williams-Beuren syndrome	BAZ1B	Baz1b*	6 models	Alliance of Genome Resources
Williams-Beuren syndrome	SRC	Src*	1 model	Alliance of Genome Resources
Williams-Beuren syndrome	LOX	Lox*	1 model	Alliance of Genome Resources
Williams-Beuren syndrome	LIMK1	Limk1*	3 models	Alliance of Genome Resources
Williams-Beuren syndrome	GTF2IRD1	Gtf2ird1*	6 models	Alliance of Genome Resources
Williams-Beuren syndrome	GTF2I	Gtf2i*	4 models	Alliance of Genome Resources
Williams-Beuren syndrome	CLIP2	Clip2*	3 models	Alliance of Genome Resources
			3-methylglutaconic aciduria type 7a	CLPB*	Clpb		Alliance of Genome Resources
46,XX sex reversal 4	NR5A1*	Nr5a1		Alliance of Genome Resources
46,XX sex reversal 5	NR2F2*	Nr2f2		Alliance of Genome Resources
46,XY sex reversal 3	NR5A1*	Nr5a1		Alliance of Genome Resources
46,XY sex reversal 6	MAP3K1*	Map3k1		Alliance of Genome Resources
46,XY sex reversal 9	ZFPM2*	Zfpm2		Alliance of Genome Resources
abdominal obesity-metabolic syndrome 3	DYRK1B*	Dyrk1b		Alliance of Genome Resources
abdominal obesity-metabolic syndrome 4	CELA2A*, CELA2B	Cela2a		Alliance of Genome Resources
ablepharon macrostomia syndrome	TWIST2*	Twist2		Alliance of Genome Resources
acrofacial dysostosis Cincinnati type	POLR1A*	Polr1a		Alliance of Genome Resources
acrokeratosis verruciformis	ATP2A2*	Atp2a2		Alliance of Genome Resources
acromelic frontonasal dysostosis	ZSWIM6*	Zswim6		Alliance of Genome Resources
adermatoglyphia	SMARCAD1*	Smarcad1		Alliance of Genome Resources
adult-onset leukoencephalopathy with axonal spheroids and pigmented glia	CSF1R*	Csf1r		Alliance of Genome Resources
ADULT syndrome	TP63*	Trp63		Alliance of Genome Resources
advanced sleep phase syndrome	PER2*	Per2		Alliance of Genome Resources
advanced sleep phase syndrome	AANAT*	Aanat		Alliance of Genome Resources
advanced sleep phase syndrome	PER3*	Per3		Alliance of Genome Resources
advanced sleep phase syndrome	TIMELESS*	Timeless		Alliance of Genome Resources
advanced sleep phase syndrome 2	CSNK1D*	Csnk1d		Alliance of Genome Resources
advanced sleep phase syndrome 3	PER3*	Per3		Alliance of Genome Resources
agammaglobulinemia 10	SPI1*	Spi1		Alliance of Genome Resources
agammaglobulinemia 5	LRRC8A*	Lrrc8a		Alliance of Genome Resources
agammaglobulinemia 8A	TCF3*	Tcf3		Alliance of Genome Resources
age related macular degeneration	FBLN5*	Fbln5		Alliance of Genome Resources
age related macular degeneration	HTRA1*	Htra1		Alliance of Genome Resources
age related macular degeneration 1	CFHR3*	Cfhr2		Alliance of Genome Resources
age related macular degeneration 1	HMCN1*	Hmcn1		Alliance of Genome Resources
age related macular degeneration 1	APOE*	Apoe	1 model	Alliance of Genome Resources
age related macular degeneration 1	CFHR1*, CFHR2	Cfhr1		Alliance of Genome Resources
age related macular degeneration 11	CST3*	Cst3		Alliance of Genome Resources
age related macular degeneration 13	CFI*	Cfi		Alliance of Genome Resources
age related macular degeneration 14	CFB*	Cfb		Alliance of Genome Resources
age related macular degeneration 14	C2*	C2		Alliance of Genome Resources
age related macular degeneration 15	C9*	C9		Alliance of Genome Resources
age related macular degeneration 2	ABCA4*	Abca4	1 model	Alliance of Genome Resources
age related macular degeneration 5	ERCC6*	Ercc6		Alliance of Genome Resources
age related macular degeneration 6	RAX2*
age related macular degeneration 7	C3*	C3		Alliance of Genome Resources
age related macular degeneration 7	HTRA1*	Htra1		Alliance of Genome Resources
age related macular degeneration 8	ARMS2*
age related macular degeneration 9	C3*	C3		Alliance of Genome Resources
Alzheimer's disease 1	MPO*	Mpo		Alliance of Genome Resources
Alzheimer's disease 1	PLAU*	Plau		Alliance of Genome Resources
Alzheimer's disease 1	APP*	App		Alliance of Genome Resources
Alzheimer's disease 2	APOE*	Apoe		Alliance of Genome Resources
Alzheimer's disease 3	APOE*	Apoe		Alliance of Genome Resources
Alzheimer's disease 4	PSEN2*	Psen2	1 model	Alliance of Genome Resources
Alzheimer's disease 9	ABCA7*	Abca7		Alliance of Genome Resources
amelogenesis imperfecta type 1A	LAMB3*	Lamb3		Alliance of Genome Resources
amelogenesis imperfecta type 3A	FAM83H*	Fam83h		Alliance of Genome Resources
amelogenesis imperfecta type 3B	AMTN*	Amtn		Alliance of Genome Resources
amelogenesis imperfecta type 4	DLX3*	Dlx3		Alliance of Genome Resources
amyotrophic lateral sclerosis type 1	DCTN1*	Dctn1		Alliance of Genome Resources
amyotrophic lateral sclerosis type 1	NEFH*	Nefh		Alliance of Genome Resources
amyotrophic lateral sclerosis type 1	PRPH*	Prph		Alliance of Genome Resources
amyotrophic lateral sclerosis type 24	NEK1*	Nek1		Alliance of Genome Resources
amyotrophic lateral sclerosis type 25	KIF5A*	Kif5a		Alliance of Genome Resources
amyotrophic lateral sclerosis type 26	TIA1*	Tia1		Alliance of Genome Resources
amyotrophic lateral sclerosis type 28	LRP12*	Lrp12		Alliance of Genome Resources
Andersen-Tawil syndrome	KCNJ2*	Kcnj2		Alliance of Genome Resources
aniridia 1	PAX6*	Pax6		Alliance of Genome Resources
anterior segment dysgenesis 1	PITX3*	Pitx3		Alliance of Genome Resources
anterior segment dysgenesis 3	FOXC1*	Foxc1		Alliance of Genome Resources
anterior segment dysgenesis 4	PITX2*	Pitx2		Alliance of Genome Resources
Antley-Bixler syndrome without disordered steroidogenesis	FGFR2*	Fgfr2		Alliance of Genome Resources
aortic valve disease 1	NOTCH1*	Notch1		Alliance of Genome Resources
aortic valve disease 2	FTO*	Fto		Alliance of Genome Resources
aortic valve disease 2	SMAD6*	Smad6		Alliance of Genome Resources
aortic valve disease 2	NKX2-5*	Nkx2-5		Alliance of Genome Resources
aortic valve disease 3	ROBO4*	Robo4		Alliance of Genome Resources
aplasia of lacrimal and salivary glands	FGF10*	Fgf10		Alliance of Genome Resources
apolipoprotein C-III deficiency	APOC3*	Apoc3		Alliance of Genome Resources
APP-related cerebral amyloid angiopathy	APP*	App		Alliance of Genome Resources
Arboleda-Tham syndrome	KAT6A*	Kat6a		Alliance of Genome Resources
arrhythmogenic right ventricular dysplasia 1	TGFB3*	Tgfb3		Alliance of Genome Resources
arrhythmogenic right ventricular dysplasia 13	CTNNA3*	Ctnna3		Alliance of Genome Resources
arrhythmogenic right ventricular dysplasia 14	CDH2*	Cdh2		Alliance of Genome Resources
arrhythmogenic right ventricular dysplasia 5	TMEM43*	Tmem43		Alliance of Genome Resources
arrhythmogenic right ventricular dysplasia 9	PKP2*	Pkp2		Alliance of Genome Resources
atrial heart septal defect 5	ACTC1*	Actc1		Alliance of Genome Resources
atrial heart septal defect 6	TLL1*	Tll1		Alliance of Genome Resources
atrial heart septal defect 8	CITED2*	Cited2		Alliance of Genome Resources
atrial heart septal defect 9	GATA6*	Gata6		Alliance of Genome Resources
atrial standstill 1	GJA5*	Gja5		Alliance of Genome Resources
autoimmune lymphoproliferative syndrome type 2A	CASP10*
autoimmune lymphoproliferative syndrome type 4	NRAS*	Nras		Alliance of Genome Resources
autoimmune lymphoproliferative syndrome type 4	KRAS*	Kras		Alliance of Genome Resources
autosomal dominant Alport syndrome	MYH9*	Myh9		Alliance of Genome Resources
autosomal dominant Alport syndrome	COL4A3*	Col4a3		Alliance of Genome Resources
autosomal dominant auditory neuropathy 3	TMEM43*	Tmem43		Alliance of Genome Resources
autosomal dominant beta thalassemia	HBB*, HBD	Hbb-b1, Hbb-b2, Hbb-bh2, Hbb-bs, Hbb-bt		Alliance of Genome Resources
autosomal dominant cerebellar ataxia	FGF14*	Fgf14		Alliance of Genome Resources
autosomal dominant cerebellar ataxia	NPTX1*	Nptx1		Alliance of Genome Resources
autosomal dominant cerebellar ataxia	SAMD9L*	Samd9l		Alliance of Genome Resources
autosomal dominant cerebellar ataxia, deafness and narcolepsy	DNMT1*	Dnmt1		Alliance of Genome Resources
autosomal dominant craniodiaphyseal dysplasia	SOST*	Sost		Alliance of Genome Resources
autosomal dominant craniometaphyseal dysplasia	ANKH*	Ank		Alliance of Genome Resources
autosomal dominant cutis laxa 1	ELN*	Eln		Alliance of Genome Resources
autosomal dominant cutis laxa 2	FBLN5*	Fbln5		Alliance of Genome Resources
autosomal dominant cutis laxa 3	ALDH18A1*	Aldh18a1		Alliance of Genome Resources
autosomal dominant distal hereditary motor neuronopathy 10	EMILIN1*	Emilin1		Alliance of Genome Resources
autosomal dominant distal hereditary motor neuronopathy 11	SPTAN1*	Sptan1		Alliance of Genome Resources
autosomal dominant distal hereditary motor neuronopathy 12	REEP1*	Reep1		Alliance of Genome Resources
autosomal dominant distal hereditary motor neuronopathy 13	BSCL2*	Bscl2		Alliance of Genome Resources
autosomal dominant distal hereditary motor neuronopathy 14	DCTN1*	Dctn1		Alliance of Genome Resources
autosomal dominant distal hereditary motor neuronopathy 3	HSPB1*	Hspb1		Alliance of Genome Resources
autosomal dominant distal hereditary motor neuronopathy 4	HSPB3*	Hspb3		Alliance of Genome Resources
autosomal dominant distal hereditary motor neuronopathy 5	GARS1*	Gars1		Alliance of Genome Resources
autosomal dominant distal hereditary motor neuronopathy 6	FBXO38*	Fbxo38		Alliance of Genome Resources
autosomal dominant distal hereditary motor neuronopathy 7	SLC5A7*	Slc5a7		Alliance of Genome Resources
autosomal dominant distal hereditary motor neuronopathy 8	TRPV4*	Trpv4		Alliance of Genome Resources
autosomal dominant distal hereditary motor neuronopathy 9	WARS1*	Wars1		Alliance of Genome Resources
autosomal dominant dyskeratosis congenita 1	TERC*
autosomal dominant dyskeratosis congenita 2	TERT*	Tert		Alliance of Genome Resources
autosomal dominant dyskeratosis congenita 3	TINF2*	Tinf2		Alliance of Genome Resources
autosomal dominant dyskeratosis congenita 6	ACD*	Acd		Alliance of Genome Resources
autosomal dominant Emery-Dreifuss muscular dystrophy 2	LMNA*	Lmna		Alliance of Genome Resources
autosomal dominant Emery-Dreifuss muscular dystrophy 4	SYNE1*	Syne1		Alliance of Genome Resources
autosomal dominant Emery-Dreifuss muscular dystrophy 5	SYNE2*	Syne2		Alliance of Genome Resources
autosomal dominant Emery-Dreifuss muscular dystrophy 7	TMEM43*	Tmem43		Alliance of Genome Resources
autosomal dominant hyaline body myopathy	MYH7*	Myh7		Alliance of Genome Resources
autosomal dominant hypocalcemia	CASR*	Casr		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder	SRRM2*	Srrm2		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder	TLK2*	Tlk2		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder	TRIO*	Trio		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder	ZNF292*	Zfp292		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder	SETD2*	Setd2		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder	SET*, SETSIP	Set		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder	RFX7*	Rfx7		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder	MED13*	Med13		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder	LMAN2L*	Lman2l		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder	KMT2B*	Kmt2b		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder	KDM4B*	Kdm4b		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder	TAF4*	Taf4		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder	HNRNPC*	Hnrnpc		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder	GRIA1*	Gria1		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder	DLG4*	Dlg4		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder	DIP2B*	Dip2b		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder	CAMK2G*	Camk2g		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder	ATP2B1*	Atp2b1		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder	AP2M1*	Ap2m1		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 1	MBD5*	Mbd5		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 10	CACNG2*	Cacng2		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 11	EPB41L1*	Epb41l1		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 13	DYNC1H1*	Dync1h1		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 19	CTNNB1*	Ctnnb1		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 21	CTCF*	Ctcf		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 22	ZBTB18*	Zbtb18		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 23	SETD5*	Setd5		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 29	SETBP1*	Setbp1		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 3	CDH15*	Cdh15		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 30	ZMYND11*	Zmynd11		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 31	PURA*	Pura		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 33	DPP6*	Dpp6		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 34	CERT1*	Cert1		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 35	PPP2R5D*	Ppp2r5d		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 36	PPP2R1A*	Ppp2r1a		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 40	CHAMP1*	Champ1		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 41	TBL1XR1*	Tbl1xr1		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 42	GNB1*	Gnb1		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 43	HIVEP2*	Hivep2		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 44	TRIO*	Trio		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 45	CIC*	Cic		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 46	KCNQ5*	Kcnq5		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 47	STAG1*	Stag1		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 48	RAC1*	Rac1		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 5	SYNGAP1*	Syngap1		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 50	NAA15*	Naa15		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 51	KMT5B*	Kmt5b		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 52	ASH1L*	Ash1l		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 53	CAMK2A*	Camk2a		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 54	CAMK2B*	Camk2b		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 55	NUS1*	Nus1		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 56	CLTC*	Cltc		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 6	GRIN2B*	Grin2b		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 8	GRIN1*	Grin1		Alliance of Genome Resources
autosomal dominant isolated ectopia lentis 1	FBN1*	Fbn1		Alliance of Genome Resources
autosomal dominant isolated macrothrombocytopenia 1	TUBB1*	Tubb1		Alliance of Genome Resources
autosomal dominant keratitis	PAX6*	Pax6		Alliance of Genome Resources
autosomal dominant limb-girdle muscular dystrophy	CAPN3*	Capn3		Alliance of Genome Resources
autosomal dominant limb-girdle muscular dystrophy type 1	DNAJB6*	Dnajb6		Alliance of Genome Resources
autosomal dominant limb-girdle muscular dystrophy type 2	TNPO3*	Tnpo3		Alliance of Genome Resources
autosomal dominant limb-girdle muscular dystrophy type 3	HNRNPDL*	Hnrnpdl		Alliance of Genome Resources
autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques	TRPV3*	Trpv3		Alliance of Genome Resources
autosomal dominant nocturnal frontal lobe epilepsy	CHRNB2*	Chrnb2		Alliance of Genome Resources
autosomal dominant nocturnal frontal lobe epilepsy 1	CHRNA4*	Chrna4	1 "NOT" model	Alliance of Genome Resources
autosomal dominant nocturnal frontal lobe epilepsy 4	CHRNA2*	Chrna2		Alliance of Genome Resources
autosomal dominant nocturnal frontal lobe epilepsy 5	KCNT1*	Kcnt1		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness	ATP2B2*	Atp2b2		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness	ATP11A*	Atp11a		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness	COL11A1*	Col11a1		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness	ELMOD3*	Elmod3		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness	EPHA10*	Epha10		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness	GREB1L*	Greb1l		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness	MAP1B*	Map1b		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness	MYO3A*	Myo3a		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness	ATOH1*	Atoh1		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness	PI4KB*	Pi4kb		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness	THOC1*	Thoc1		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness	USP48*	Usp48		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 1	DIAPH1*	Diaph1		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 10	EYA4*	Eya4		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 11	MYO7A*	Myo7a		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 15	POU4F3*	Pou4f3	1 "NOT" model	Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 17	MYH9*	Myh9		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 20	ACTG1*	Actg1		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 21	RIPOR2*	Ripor2		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 23	SIX1*	Six1		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 27	REST*	Rest		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 28	GRHL2*	Grhl2		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 2A	KCNQ4*	Kcnq4		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 2B	GJB3*	Gjb3		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 34	NLRP3*	Nlrp3		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 3A	GJB2*	Gjb2		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 3B	GJB6*	Gjb6		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 40	CRYM*	Crym		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 44	CCDC50*	Ccdc50		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 4A	MYH14*	Myh14		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 4B	CEACAM16*	Ceacam16		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 5	GSDME*	Gsdme		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 50	MIR96*	Mir96		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 56	TNC*	Tnc		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 6	WFS1*	Wfs1		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 64	DIABLO*	Diablo		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 65	TBC1D24*	Tbc1d24	2 "NOT" models	Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 66	CD164*	Cd164		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 68	HOMER2*	Homer2		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 69	KITLG*	Kitl		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 7	LMX1A*	Lmx1a		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 70	MCM2*	Mcm2		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 71	DMXL2*	Dmxl2		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 72	SLC44A4*	Slc44a4		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 73	PTPRQ*	Ptprq		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 74	PDE1C*	Pde1c		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 75	TRRAP*	Trrap		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 76	PLS1*	Pls1		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 77	ABCC1*	Abcc1		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 78	SLC12A2*	Slc12a2		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 79	SCD5*
autosomal dominant osteopetrosis 1	LRP5*, LRP5L	Lrp5		Alliance of Genome Resources
autosomal dominant polycystic kidney disease	LRP5*, LRP5L	Lrp5		Alliance of Genome Resources
autosomal dominant polycystic kidney disease	MTOR*	Mtor		Alliance of Genome Resources
autosomal dominant polycystic kidney disease	PKD1*	Pkd1		Alliance of Genome Resources
autosomal dominant progressive external ophthalmoplegia 1	POLG*	Polg		Alliance of Genome Resources
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2	SLC25A4*	Slc25a4		Alliance of Genome Resources
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3	TWNK*	Twnk		Alliance of Genome Resources
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4	POLG2*	Polg2		Alliance of Genome Resources
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5	RRM2B*	Rrm2b		Alliance of Genome Resources
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6	DNA2*	Dna2		Alliance of Genome Resources
autosomal dominant Robinow syndrome 1	WNT5A*	Wnt5a		Alliance of Genome Resources
autosomal dominant Robinow syndrome 2	DVL1*, DVL1P1	Dvl1		Alliance of Genome Resources
autosomal dominant Robinow syndrome 3	DVL3*	Dvl3		Alliance of Genome Resources
autosomal dominant sensory ataxia 1	RNF170*	Rnf170		Alliance of Genome Resources
autosomal dominant sideroblastic anemia 4	HSPA9*	Hspa9		Alliance of Genome Resources
autosomal dominant thrombophilia due to protein C deficiency	PROC*	Proc		Alliance of Genome Resources
autosomal dominant thrombophilia due to protein S deficiency	PROS1*	Pros1		Alliance of Genome Resources
autosomal dominant vitreoretinochoroidopathy	BEST1*	Best1		Alliance of Genome Resources
autosomal dominant Wolfram syndrome	WFS1*	Wfs1		Alliance of Genome Resources
autosomal dominant woolly hair	KRT74*	Krt74		Alliance of Genome Resources
autosomal recessive thrombophilia due to protein C deficiency	PROC*	Proc		Alliance of Genome Resources
Axenfeld-Rieger syndrome	FOXC1*	Foxc1		Alliance of Genome Resources
Axenfeld-Rieger syndrome	PITX2*	Pitx2		Alliance of Genome Resources
Axenfeld-Rieger syndrome type 3	FOXC1*	Foxc1		Alliance of Genome Resources
Ayme-Gripp syndrome	MAF*	Maf		Alliance of Genome Resources
Bainbridge-Ropers syndrome	ASXL3*	Asxl3		Alliance of Genome Resources
Baraitser-Winter syndrome 1	ACTB*	Actb		Alliance of Genome Resources
Baraitser-Winter syndrome 2	ACTG1*	Actg1		Alliance of Genome Resources
Bart-Pumphrey syndrome	GJB2*	Gjb2		Alliance of Genome Resources
benign familial hematuria	COL4A3*	Col4a3		Alliance of Genome Resources
benign familial hematuria	COL4A4*	Col4a4		Alliance of Genome Resources
benign familial infantile seizures 2	PRRT2*	Prrt2		Alliance of Genome Resources
benign familial infantile seizures 3	SCN2A*	Scn2a		Alliance of Genome Resources
benign familial infantile seizures 5	SCN8A*	Scn8a		Alliance of Genome Resources
benign familial infantile seizures 6	CHRNA2*	Chrna2		Alliance of Genome Resources
Beukes hip dysplasia	UFSP2*	Ufsp2		Alliance of Genome Resources
bilateral optic nerve hypoplasia	PAX6*	Pax6		Alliance of Genome Resources
Birk-Barel syndrome	KCNK9*	Kcnk9		Alliance of Genome Resources
Birt-Hogg-Dube syndrome	PRDM10*	Prdm10		Alliance of Genome Resources
Blau syndrome	NOD2*	Nod2		Alliance of Genome Resources
blepharocheilodontic syndrome 1	CDH1*	Cdh1		Alliance of Genome Resources
blepharocheilodontic syndrome 2	CTNND1*	Ctnnd1		Alliance of Genome Resources
blepharophimosis-impaired intellectual development syndrome	SMARCA2*	Smarca2		Alliance of Genome Resources
blue color blindness	OPN1SW*	Opn1sw		Alliance of Genome Resources
Bothnian type palmoplantar keratoderma	AQP5*	Aqp5		Alliance of Genome Resources
brachycephaly, trichomegaly, and developmental delay	RPS23*	Rps23		Alliance of Genome Resources
brachydactyly-syndactyly syndrome	HOXD13*	Hoxd13		Alliance of Genome Resources
brachydactyly type A1	GDF5*	Gdf5		Alliance of Genome Resources
brachydactyly type A1D	BMPR1B*	Bmpr1b		Alliance of Genome Resources
brachydactyly type A2	BMPR1B*	Bmpr1b		Alliance of Genome Resources
brachydactyly type A2	BMP2*	Bmp2		Alliance of Genome Resources
brachydactyly type D	HOXD13*	Hoxd13		Alliance of Genome Resources
brain small vessel disease 2	COL4A2*	Col4a2		Alliance of Genome Resources
branchiooculofacial syndrome	TFAP2A*	Tfap2a		Alliance of Genome Resources
branchiootorenal syndrome	PAX1*	Pax1		Alliance of Genome Resources
branchiootorenal syndrome 1	EYA1*	Eya1		Alliance of Genome Resources
branchiootorenal syndrome 2	SIX5*	Six5		Alliance of Genome Resources
bronchiectasis 1	SCNN1B*	Scnn1b		Alliance of Genome Resources
bronchiectasis 1	CFTR*	Cftr		Alliance of Genome Resources
bronchiectasis 2	SCNN1A*	Scnn1a		Alliance of Genome Resources
bronchiectasis 3	SCNN1G*	Scnn1g		Alliance of Genome Resources
Brooke-Spiegler syndrome	CYLD*	Cyld		Alliance of Genome Resources
Brugada syndrome 9	KCND3*	Kcnd3		Alliance of Genome Resources
Buschke-Ollendorff syndrome	LEMD3*	Lemd3		Alliance of Genome Resources
CADASIL 2	HTRA1*	Htra1		Alliance of Genome Resources
cardiofaciocutaneous syndrome 1	BRAF*	Braf		Alliance of Genome Resources
cardiofaciocutaneous syndrome 2	KRAS*	Kras		Alliance of Genome Resources
cardiofaciocutaneous syndrome 3	MAP2K1*	Map2k1		Alliance of Genome Resources
cardiofaciocutaneous syndrome 4	MAP2K2*	Map2k2		Alliance of Genome Resources
Carney-Stratakis syndrome	SDHD*	Sdhd		Alliance of Genome Resources
Carney-Stratakis syndrome	SDHC*	Sdhc		Alliance of Genome Resources
Carney-Stratakis syndrome	SDHB*	Sdhb		Alliance of Genome Resources
carpal tunnel syndrome 1	TTR*	Ttr		Alliance of Genome Resources
carpal tunnel syndrome 2	COMP*	Comp		Alliance of Genome Resources
cataract 11 multiple types	PITX3*	Pitx3		Alliance of Genome Resources
cataract 12 multiple types	BFSP2*	Bfsp2		Alliance of Genome Resources
cataract 17 multiple types	CRYBB1*	Crybb1		Alliance of Genome Resources
cataract 22 multiple types	CRYBB3*	Crybb3		Alliance of Genome Resources
cataract 31 multiple types	CHMP4B*	Chmp4b		Alliance of Genome Resources
cataract 33	BFSP1*	Bfsp1		Alliance of Genome Resources
cataract 41	WFS1*	Wfs1		Alliance of Genome Resources
cataract 42	CRYBA2*	Cryba2		Alliance of Genome Resources
cataract 43	UNC45B*	Unc45b		Alliance of Genome Resources
cataract 47	SLC16A12*	Slc16a12		Alliance of Genome Resources
cataract 7	CRYGD*	Crygd, Cryge, Crygf		Alliance of Genome Resources
cataract 9 multiple types	PITX3*	Pitx3		Alliance of Genome Resources
central conducting lymphatic anomaly	EPHB4*	Ephb4		Alliance of Genome Resources
central precocious puberty 1	KISS1R*	Kiss1r		Alliance of Genome Resources
centronuclear myopathy 1	MTMR14*	Mtmr14		Alliance of Genome Resources
centronuclear myopathy 1	DNM2*	Dnm2		Alliance of Genome Resources
centronuclear myopathy 4	CCDC78*	Ccdc78		Alliance of Genome Resources
cerebellar ataxia type 41	TRPC3*	Trpc3		Alliance of Genome Resources
cerebellar ataxia type 43	MME*	Mme		Alliance of Genome Resources
cerebellar ataxia type 47	PUM1*	Pum1		Alliance of Genome Resources
cerebellar ataxia type 48	STUB1*	Stub1		Alliance of Genome Resources
Charcot-Marie-Tooth disease axonal type 2C	TRPV4*	Trpv4		Alliance of Genome Resources
Charcot-Marie-Tooth disease axonal type 2C	GDAP1*	Gdap1		Alliance of Genome Resources
Charcot-Marie-Tooth disease axonal type 2CC	NEFH*	Nefh		Alliance of Genome Resources
Charcot-Marie-Tooth disease axonal type 2F	HSPB1*	Hspb1		Alliance of Genome Resources
Charcot-Marie-Tooth disease axonal type 2K	JPH1*	Jph1		Alliance of Genome Resources
Charcot-Marie-Tooth disease axonal type 2L	HSPB8*	Hspb8		Alliance of Genome Resources
Charcot-Marie-Tooth disease axonal type 2N	AARS1*	Aars1		Alliance of Genome Resources
Charcot-Marie-Tooth disease axonal type 2T	MME*	Mme		Alliance of Genome Resources
Charcot-Marie-Tooth disease axonal type 2U	MARS1*	Mars1		Alliance of Genome Resources
Charcot-Marie-Tooth disease axonal type 2V	NAGLU*	Naglu		Alliance of Genome Resources
Charcot-Marie-Tooth disease, axonal type 2W	HARS1*	Hars1		Alliance of Genome Resources
Charcot-Marie-Tooth disease dominant intermediate A	GBF1*	Gbf1		Alliance of Genome Resources
Charcot-Marie-Tooth disease dominant intermediate B	DNM2*	Dnm2		Alliance of Genome Resources
Charcot-Marie-Tooth disease dominant intermediate D	MPZ*	Mpz		Alliance of Genome Resources
Charcot-Marie-Tooth disease dominant intermediate E	INF2*	Inf2		Alliance of Genome Resources
Charcot-Marie-Tooth disease dominant intermediate F	GNB4*	Gnb4		Alliance of Genome Resources
Charcot-Marie-Tooth disease dominant intermediate G	NEFL*	Nefl		Alliance of Genome Resources
Charcot-Marie-Tooth disease type 1D	EGR2*	Egr2		Alliance of Genome Resources
Charcot-Marie-Tooth disease type 1F	NEFL*	Nefl		Alliance of Genome Resources
Charcot-Marie-Tooth disease type 1G	PMP2*	Pmp2		Alliance of Genome Resources
Charcot-Marie-Tooth disease type 2DD	ATP1A1*	Atp1a1		Alliance of Genome Resources
Charcot-Marie-Tooth disease type 2I	MPZ*	Mpz		Alliance of Genome Resources
Charcot-Marie-Tooth disease type 2J	MPZ*	Mpz		Alliance of Genome Resources
Charcot-Marie-Tooth disease type 2Y	VCP*	Vcp		Alliance of Genome Resources
Charcot-Marie-Tooth disease type 3	PRX*	Prx		Alliance of Genome Resources
Charcot-Marie-Tooth disease type 3	EGR2*	Egr2		Alliance of Genome Resources
childhood-onset neurodegeneration with brain atrophy	UBTF*	Ubtf		Alliance of Genome Resources
chromosome 15q24 deletion syndrome	SIN3A*	Sin3a		Alliance of Genome Resources
Clark-Baraitser syndrome	TRIP12*	Trip12		Alliance of Genome Resources
cleft palate, cardiac defects, and intellectual disabillity	MEIS2*	Meis2		Alliance of Genome Resources
Coffin-Siris syndrome	ARID1B*	Arid1b		Alliance of Genome Resources
Coffin-Siris syndrome 10	SOX4*	Sox4		Alliance of Genome Resources
Coffin-Siris syndrome 11	SMARCD1*	Smarcd1		Alliance of Genome Resources
Coffin-Siris syndrome 12	BICRA*	Bicra		Alliance of Genome Resources
Coffin-Siris syndrome 2	ARID1A*	Arid1a		Alliance of Genome Resources
Coffin-Siris syndrome 3	SMARCB1*	Smarcb1		Alliance of Genome Resources
Coffin-Siris syndrome 4	SMARCA4*	Smarca4		Alliance of Genome Resources
Coffin-Siris syndrome 5	SMARCE1*	Smarce1		Alliance of Genome Resources
Coffin-Siris syndrome 6	ARID2*	Arid2		Alliance of Genome Resources
Coffin-Siris syndrome 7	DPF2*	Dpf2		Alliance of Genome Resources
Coffin-Siris syndrome 8	SMARCC2*	Smarcc2		Alliance of Genome Resources
Coffin-Siris syndrome 9	SOX11*	Sox11		Alliance of Genome Resources
common variable immunodeficiency 10	NFKB2*	Nfkb2		Alliance of Genome Resources
common variable immunodeficiency 13	IKZF1*	Ikzf1		Alliance of Genome Resources
common variable immunodeficiency 14	IRF2BP2*	Irf2bp2		Alliance of Genome Resources
common variable immunodeficiency 2	TNFRSF13B*	Tnfrsf13b		Alliance of Genome Resources
complex cortical dysplasia with other brain malformations	CAMSAP1*	Camsap1		Alliance of Genome Resources
complex cortical dysplasia with other brain malformations	CTNNA2*	Ctnna2		Alliance of Genome Resources
complex cortical dysplasia with other brain malformations	KIF26A*	Kif26a		Alliance of Genome Resources
complex cortical dysplasia with other brain malformations	APC2*	Apc2		Alliance of Genome Resources
complex cortical dysplasia with other brain malformations 1	TUBB3*	Tubb3		Alliance of Genome Resources
complex cortical dysplasia with other brain malformations 2	KIF5C*	Kif5c		Alliance of Genome Resources
complex cortical dysplasia with other brain malformations 3	KIF2A*	Kif2a		Alliance of Genome Resources
complex cortical dysplasia with other brain malformations 5	TUBB2A*	Tubb2a		Alliance of Genome Resources
complex cortical dysplasia with other brain malformations 6	TUBB*	Tubb5		Alliance of Genome Resources
cone-rod dystrophy 24	UNC119*	Unc119		Alliance of Genome Resources
congenital adrenal insufficiency	CYP11A1*	Cyp11a1		Alliance of Genome Resources
congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	SON*	Son		Alliance of Genome Resources
congenital central hypoventilation syndrome	BDNF*	Bdnf		Alliance of Genome Resources
congenital central hypoventilation syndrome	MYO1H*	Myo1h		Alliance of Genome Resources
congenital central hypoventilation syndrome	LBX1*	Lbx1		Alliance of Genome Resources
congenital contractural arachnodactyly	FBN2*	Fbn2		Alliance of Genome Resources
congenital diarrhea 6	GUCY2C*	Gucy2c		Alliance of Genome Resources
congenital dyserythropoietic anemia type IV	KLF1*	Klf1		Alliance of Genome Resources
congenital fibrosis of the extraocular muscles 1	KIF21A*	Kif21a		Alliance of Genome Resources
congenital fibrosis of the extraocular muscles 3A	TUBB3*	Tubb3		Alliance of Genome Resources
congenital limbs-face contractures-hypotonia-developmental delay syndrome	NALCN*	Nalcn		Alliance of Genome Resources
congenital myasthenic syndrome 18	SNAP25*	Snap25		Alliance of Genome Resources
congenital myasthenic syndrome 1A	CAST*	Cast		Alliance of Genome Resources
congenital myasthenic syndrome 1A	CHRNA1*	Chrna1		Alliance of Genome Resources
congenital myasthenic syndrome 1B	CHRNA1*	Chrna1		Alliance of Genome Resources
congenital myasthenic syndrome 2A	CHRNB1*	Chrnb1		Alliance of Genome Resources
congenital myasthenic syndrome 7	SYT2*	Syt2		Alliance of Genome Resources
congenital myopathy 15	TNNC2*	Tnnc2		Alliance of Genome Resources
congenital myopathy 16	MYBPC1*	Mybpc1		Alliance of Genome Resources
congenital myopathy 18	CACNA1S*	Cacna1s		Alliance of Genome Resources
congenital myopathy 2C	ACTA1*	Acta1		Alliance of Genome Resources
congenital myopathy 4A	TPM3*	Tpm3		Alliance of Genome Resources
congenital myopathy 6	MYH2*	Myh2		Alliance of Genome Resources
congenital myopathy 8	ACTN2*	Actn2		Alliance of Genome Resources
congenital nongoitrous hypothyroidism 2	PAX8*	Pax8		Alliance of Genome Resources
congenital nongoitrous hypothyroidism 5	NKX2-5*	Nkx2-5		Alliance of Genome Resources
congenital nongoitrous hypothyroidism 6	THRA*	Thra		Alliance of Genome Resources
congenital nongoitrous hypothyroidism 8	TBL1X*, TBL1Y	Tbl1x		Alliance of Genome Resources
congenital stationary night blindness autosomal dominant 3	GNAT1*	Gnat1		Alliance of Genome Resources
congenital symmetric circumferential skin creases 1	TUBB*	Tubb5		Alliance of Genome Resources
congenital symmetric circumferential skin creases 2	MAPRE2*	Mapre2		Alliance of Genome Resources
congenital vertical talus	HOXD10*	Hoxd10		Alliance of Genome Resources
contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A	MYH3*	Myh3		Alliance of Genome Resources
Cornelia de Lange syndrome 4	RAD21*	Rad21		Alliance of Genome Resources
Cornelia de Lange syndrome 6	BRD4*	Brd4		Alliance of Genome Resources
craniofacial-deafness-hand syndrome	PAX3*	Pax3		Alliance of Genome Resources
Crouzon syndrome-acanthosis nigricans syndrome	FGFR3*	Fgfr3		Alliance of Genome Resources
CST3-related cerebral amyloid angiopathy	CST3*	Cst3		Alliance of Genome Resources
C syndrome	CD96*	Cd96		Alliance of Genome Resources
Culler-Jones syndrome	GLI2*	Gli2		Alliance of Genome Resources
Currarino syndrome	MNX1*	Mnx1		Alliance of Genome Resources
D-2-hydroxyglutaric aciduria 2	IDH2*	Idh2		Alliance of Genome Resources
dehydrated hereditary stomatocytosis 1	PIEZO1*	Piezo1		Alliance of Genome Resources
dehydrated hereditary stomatocytosis 2	KCNN4*	Kcnn4		Alliance of Genome Resources
delta beta-thalassemia	HBG1*, HBG2*, HBE1	Hbb-bh0, Hbb-bh1, Hbb-y		Alliance of Genome Resources
delta beta-thalassemia	HBB*, HBD	Hbb-b1, Hbb-b2, Hbb-bh2, Hbb-bs, Hbb-bt		Alliance of Genome Resources
dentatorubral-pallidoluysian atrophy	ATN1*	Atn1		Alliance of Genome Resources
dentinogenesis imperfecta	COL1A1*	Col1a1		Alliance of Genome Resources
dermatopathia pigmentosa reticularis	KRT14*	Krt14		Alliance of Genome Resources
DeSanto-Shinawi syndrome	WAC*	Wac		Alliance of Genome Resources
developmental and epileptic encephalopathy 100	FBXO28*	Fbxo28		Alliance of Genome Resources
developmental and epileptic encephalopathy 103	KCNC2*	Kcnc2		Alliance of Genome Resources
developmental and epileptic encephalopathy 104	ATP6V0A1*	Atp6v0a1		Alliance of Genome Resources
developmental and epileptic encephalopathy 108	MAST3*	Mast3		Alliance of Genome Resources
developmental and epileptic encephalopathy 109	FZR1*	Fzr1		Alliance of Genome Resources
developmental and epileptic encephalopathy 11	SCN2A*	Scn2a		Alliance of Genome Resources
developmental and epileptic encephalopathy 116	GLUL*	Glul		Alliance of Genome Resources
developmental and epileptic encephalopathy 13	SCN8A*	Scn8a		Alliance of Genome Resources
developmental and epileptic encephalopathy 19	GABRA1*	Gabra1		Alliance of Genome Resources
developmental and epileptic encephalopathy 24	HCN1*	Hcn1		Alliance of Genome Resources
developmental and epileptic encephalopathy 26	KCNB1*	Kcnb1		Alliance of Genome Resources
developmental and epileptic encephalopathy 27	GRIN2B*	Grin2b		Alliance of Genome Resources
developmental and epileptic encephalopathy 30	SIK1*	Sik1		Alliance of Genome Resources
developmental and epileptic encephalopathy 31A	DNM1*	Dnm1		Alliance of Genome Resources
developmental and epileptic encephalopathy 32	KCNA2*	Kcna2		Alliance of Genome Resources
developmental and epileptic encephalopathy 33	EEF1A2*	Eef1a2		Alliance of Genome Resources
developmental and epileptic encephalopathy 4	STXBP1*	Stxbp1		Alliance of Genome Resources
developmental and epileptic encephalopathy 41	SLC1A2*	Slc1a2		Alliance of Genome Resources
developmental and epileptic encephalopathy 42	CACNA1A*	Cacna1a		Alliance of Genome Resources
developmental and epileptic encephalopathy 43	GABRB3*	Gabrb3		Alliance of Genome Resources
developmental and epileptic encephalopathy 45	GABRB1*	Gabrb1		Alliance of Genome Resources
developmental and epileptic encephalopathy 46	GRIN2D*	Grin2d		Alliance of Genome Resources
developmental and epileptic encephalopathy 47	FGF12*	Fgf12		Alliance of Genome Resources
developmental and epileptic encephalopathy 5	SPTAN1*	Sptan1		Alliance of Genome Resources
developmental and epileptic encephalopathy 56	YWHAG*	Ywhag		Alliance of Genome Resources
developmental and epileptic encephalopathy 57	KCNT2*	Kcnt2		Alliance of Genome Resources
developmental and epileptic encephalopathy 58	NTRK2*	Ntrk2		Alliance of Genome Resources
developmental and epileptic encephalopathy 59	GABBR2*	Gabbr2		Alliance of Genome Resources
developmental and epileptic encephalopathy 62	SCN3A*	Scn3a		Alliance of Genome Resources
developmental and epileptic encephalopathy 64	RHOBTB2*	Rhobtb2		Alliance of Genome Resources
developmental and epileptic encephalopathy 65	CYFIP2*	Cyfip2		Alliance of Genome Resources
developmental and epileptic encephalopathy 66	PACS2*	Pacs2		Alliance of Genome Resources
developmental and epileptic encephalopathy 67	CUX2*	Cux2		Alliance of Genome Resources
developmental and epileptic encephalopathy 69	CACNA1E*	Cacna1e		Alliance of Genome Resources
developmental and epileptic encephalopathy 6B	SCN1A*	Scn1a		Alliance of Genome Resources
developmental and epileptic encephalopathy 70	PHACTR1*	Phactr1		Alliance of Genome Resources
developmental and epileptic encephalopathy 72	NEUROD2*	Neurod2		Alliance of Genome Resources
developmental and epileptic encephalopathy 73	RNF13*	Rnf13		Alliance of Genome Resources
developmental and epileptic encephalopathy 74	GABRG2*	Gabrg2		Alliance of Genome Resources
developmental and epileptic encephalopathy 78	GABRA2*	Gabra2		Alliance of Genome Resources
developmental and epileptic encephalopathy 79	GABRA5*	Gabra5		Alliance of Genome Resources
developmental and epileptic encephalopathy 87	CDK19*	Cdk19		Alliance of Genome Resources
developmental and epileptic encephalopathy 91	PPP3CA*	Ppp3ca		Alliance of Genome Resources
developmental and epileptic encephalopathy 92	GABRB2*	Gabrb2		Alliance of Genome Resources
developmental and epileptic encephalopathy 93	ATP6V1A*	Atp6v1a		Alliance of Genome Resources
developmental and epileptic encephalopathy 96	NSF*	Nsf		Alliance of Genome Resources
developmental and epileptic encephalopathy 97	CELF2*	Celf2		Alliance of Genome Resources
developmental and epileptic encephalopathy 98	ATP1A2*	Atp1a2		Alliance of Genome Resources
developmental and epileptic encephalopathy 99	ATP1A3*	Atp1a3		Alliance of Genome Resources
developmental delay, dysmorphic facies, and brain anomalies	U2AF2*	U2af2		Alliance of Genome Resources
developmental delay, hypotonia, and impaired language	FBXW7*	Fbxw7		Alliance of Genome Resources
developmental dysplasia of the hip 1	GDF5*	Gdf5		Alliance of Genome Resources
Diamond-Blackfan anemia 1	RPS19*	Rps19		Alliance of Genome Resources
Diamond-Blackfan anemia 10	RPS26*	Rps26		Alliance of Genome Resources
Diamond-Blackfan anemia 11	RPL26*	Rpl26		Alliance of Genome Resources
Diamond-Blackfan anemia 12	RPL15*	Rpl15		Alliance of Genome Resources
Diamond-Blackfan anemia 13	RPS29*	Rps29		Alliance of Genome Resources
Diamond-Blackfan anemia 15 with mandibulofacial dysostosis	RPS28*	Rps28		Alliance of Genome Resources
Diamond-Blackfan anemia 16	RPL27*	Rpl27		Alliance of Genome Resources
Diamond-Blackfan anemia 17	RPS27*	Rps27, Rps27rt		Alliance of Genome Resources
Diamond-Blackfan anemia 18	RPL18*	Rpl18		Alliance of Genome Resources
Diamond-Blackfan anemia 19	RPL35*	Rpl35, Rpl35rt		Alliance of Genome Resources
Diamond-Blackfan anemia 20	RPS15A*	Rps15a		Alliance of Genome Resources
Diamond-blackfan anemia 3	RPS24*	Rps24		Alliance of Genome Resources
Diamond-Blackfan anemia 4	RPS17*	Rps17		Alliance of Genome Resources
Diamond-Blackfan anemia 5	RPL35A*	Rpl35a		Alliance of Genome Resources
Diamond-Blackfan anemia 8	RPS7*	Rps7		Alliance of Genome Resources
Diamond-Blackfan anemia 9	RPS10*	Rps10		Alliance of Genome Resources
diaphyseal medullary stenosis with malignant fibrous histiocytoma	MTAP*	Mtap		Alliance of Genome Resources
DICER1 syndrome	DICER1*	Dicer1		Alliance of Genome Resources
diffuse cystic renal dysplasia	BICC1*	Bicc1		Alliance of Genome Resources
DiGeorge syndrome	ARVCF*	Arvcf	2 models	Alliance of Genome Resources
DiGeorge syndrome	DVL1*, DVL1P1*	Dvl1		Alliance of Genome Resources
DiGeorge syndrome	UFD1*	Ufd1	2 models	Alliance of Genome Resources
dilated cardiomyopathy 1AA	ACTN2*	Actn2		Alliance of Genome Resources
dilated cardiomyopathy 1B	FKTN*	Fktn		Alliance of Genome Resources
dilated cardiomyopathy 1E	SCN5A*	Scn5a	2 models	Alliance of Genome Resources
dilated cardiomyopathy 1II	CRYAB*	Cryab		Alliance of Genome Resources
dilated cardiomyopathy 1JJ	LAMA4*	Lama4		Alliance of Genome Resources
dilated cardiomyopathy 1KK	MYPN*	Mypn		Alliance of Genome Resources
dilated cardiomyopathy 1LL	PRDM16*	Prdm16		Alliance of Genome Resources
dilated cardiomyopathy 1MM	MYBPC3*	Mybpc3		Alliance of Genome Resources
dilated cardiomyopathy 1NN	RAF1*	Raf1		Alliance of Genome Resources
dilated cardiomyopathy 1S	MYH7*	Myh7		Alliance of Genome Resources
dilated cardiomyopathy 1U	PSEN1*	Psen1		Alliance of Genome Resources
dilated cardiomyopathy 1V	PSEN2*	Psen2		Alliance of Genome Resources
dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome	LMNA*	Lmna		Alliance of Genome Resources
distal arthrogryposis type 1A	TPM2*	Tpm2		Alliance of Genome Resources
distal arthrogryposis type 1B	MYBPC1*	Mybpc1		Alliance of Genome Resources
distal arthrogryposis type 2A	MYH3*	Myh3		Alliance of Genome Resources
distal arthrogryposis type 2B1	TNNI2*	Tnni2		Alliance of Genome Resources
distal arthrogryposis type 2B2	TNNT3*	Tnnt3		Alliance of Genome Resources
distal arthrogryposis type 2B3	MYH3*	Myh3		Alliance of Genome Resources
distal arthrogryposis type 3	PIEZO2*	Piezo2		Alliance of Genome Resources
distal arthrogryposis type 5	PIEZO2*	Piezo2		Alliance of Genome Resources
distal arthrogryposis type 7	MYH8*	Myh8		Alliance of Genome Resources
distal myopathy 1	MYH7*	Myh7		Alliance of Genome Resources
distal myopathy 3	HNRNPA1*, HNRNPA1L2	Hnrnpa1, Hnrnpa1l2-ps2		Alliance of Genome Resources
distal myopathy Tateyama type	CAV3*	Cav3		Alliance of Genome Resources
distal myopathy with rimmed vacuoles	SQSTM1*	Sqstm1		Alliance of Genome Resources
dominant optic atrophy plus syndrome	OPA1*	Opa1		Alliance of Genome Resources
dopa-responsive dystonia	GCH1*	Gch1		Alliance of Genome Resources
dysplastic nevus syndrome	CDKN2A*	Cdkn2a	1 "NOT" model	Alliance of Genome Resources
dystonia 12	PLA2G6*	Pla2g6		Alliance of Genome Resources
dystonia 12	ATP1A3*	Atp1a3		Alliance of Genome Resources
dystonia 24	ANO3*	Ano3		Alliance of Genome Resources
dystonia 25	GNAL*	Gnal		Alliance of Genome Resources
dystonia 28, childhood-onset	KMT2B*	Kmt2b		Alliance of Genome Resources
dystonia 30	VPS16*	Vps16		Alliance of Genome Resources
dystonia 33	EIF2AK2*	Eif2ak2		Alliance of Genome Resources
dystonia 9	SLC2A1*	Slc2a1		Alliance of Genome Resources
dystransthyretinemic hyperthyroxinemia	TTR*	Ttr		Alliance of Genome Resources
early-onset dystonia and/or spastic paraplegia	ATP5MC3*	Atp5mc3		Alliance of Genome Resources
early-onset epilepsy 2	SETD1A*	Setd1a		Alliance of Genome Resources
early-onset epilepsy 3	ATP6V0C*	Atp6v0c		Alliance of Genome Resources
ectodermal dysplasia 10A	EDAR*	Edar		Alliance of Genome Resources
ectodermal dysplasia 11A	EDARADD*	Edaradd		Alliance of Genome Resources
ectodermal dysplasia 12	KDF1*	Kdf1		Alliance of Genome Resources
ectodermal dysplasia and immunodeficiency 2	NFKBIA*	Nfkbia		Alliance of Genome Resources
EEC syndrome	TP63*	Trp63		Alliance of Genome Resources
Ehlers-Danlos syndrome arthrochalasia type 1	COL1A1*	Col1a1		Alliance of Genome Resources
Ehlers-Danlos syndrome arthrochalasia type 2	COL1A2*	Col1a2		Alliance of Genome Resources
Ehlers-Danlos syndrome classic type 2	COL5A2*	Col5a2		Alliance of Genome Resources
Ehlers-Danlos syndrome periodontal type 1	C1R*	C1ra, C1rb		Alliance of Genome Resources
Ehlers-Danlos syndrome periodontal type 2	C1S*	C1s1, C1s2		Alliance of Genome Resources
epidermolysis bullosa simplex with mottled pigmentation	KRT5*	Krt5		Alliance of Genome Resources
epidermolysis bullosa with congenital localized absence of skin and deformity of nails	COL7A1*	Col7a1		Alliance of Genome Resources
epidermolytic hyperkeratosis 1	KRT1*	Krt1		Alliance of Genome Resources
epidermolytic palmoplantar keratoderma 1	KRT9*	Krt9		Alliance of Genome Resources
epidermolytic palmoplantar keratoderma 2	KRT1*	Krt1		Alliance of Genome Resources
episodic ataxia type 9	SCN2A*	Scn2a		Alliance of Genome Resources
episodic kinesigenic dyskinesia 3	TMEM151A*	Tmem151a		Alliance of Genome Resources
epithelial basement membrane dystrophy	TGFBI*	Tgfbi		Alliance of Genome Resources
epithelial recurrent erosion dystrophy	COL17A1*	Col17a1		Alliance of Genome Resources
erythrokeratodermia variabilis et progressiva 1	GJB3*	Gjb3		Alliance of Genome Resources
erythrokeratodermia variabilis et progressiva 2	GJB4*	Gjb4		Alliance of Genome Resources
erythrokeratodermia variabilis et progressiva 3	GJA1*, GJA6P	Gja1, Gja6		Alliance of Genome Resources
erythrokeratodermia variabilis et progressiva 6	TRPM4*	Trpm4		Alliance of Genome Resources
essential tremor 1	DRD3*	Drd3		Alliance of Genome Resources
essential tremor 4	FUS*	Fus		Alliance of Genome Resources
essential tremor 5	TENM4*	Tenm4		Alliance of Genome Resources
essential tremor 6	NOTCH2NLC*
exudative vitreoretinopathy 1	FZD4*	Fzd4		Alliance of Genome Resources
exudative vitreoretinopathy 5	TSPAN12*	Tspan12		Alliance of Genome Resources
exudative vitreoretinopathy 6	ZNF408*	Zfp408		Alliance of Genome Resources
exudative vitreoretinopathy 7	CTNNB1*	Ctnnb1		Alliance of Genome Resources
familial adenomatous polyposis 1	APC*	Apc		Alliance of Genome Resources
familial adult myoclonic epilepsy 1	SAMD12*	Samd12		Alliance of Genome Resources
familial adult myoclonic epilepsy 2	STARD7*	Stard7		Alliance of Genome Resources
familial adult myoclonic epilepsy 3	MARCHF6*	Marchf6		Alliance of Genome Resources
familial adult myoclonic epilepsy 4	YEATS2*	Yeats2		Alliance of Genome Resources
familial adult myoclonic epilepsy 6	TNRC6A*	Tnrc6a		Alliance of Genome Resources
familial adult myoclonic epilepsy 7	RAPGEF2*	Rapgef2		Alliance of Genome Resources
familial apolipoprotein A5 deficiency	APOA5*	Apoa5		Alliance of Genome Resources
familial Behcet-like autoinflammatory syndrome	TNFAIP3*	Tnfaip3		Alliance of Genome Resources
familial cold autoinflammatory syndrome 2	NLRP12*	Nlrp12		Alliance of Genome Resources
familial cold autoinflammatory syndrome 3	PLCG2*	Plcg2		Alliance of Genome Resources
familial encephalopathy with neuroserpin inclusion bodies	SERPINB7*	Serpinb7		Alliance of Genome Resources
familial episodic pain syndrome 1	TRPA1*	Trpa1		Alliance of Genome Resources
familial episodic pain syndrome 2	SCN10A*	Scn10a		Alliance of Genome Resources
familial erythrocytosis 1	SH2B3*	Sh2b3		Alliance of Genome Resources
familial erythrocytosis 1	JAK2*	Jak2		Alliance of Genome Resources
familial erythrocytosis 1	EPOR*	Epor	2 models	Alliance of Genome Resources
familial erythrocytosis 3	EGLN1*	Egln1		Alliance of Genome Resources
familial erythrocytosis 5	EPO*	Epo		Alliance of Genome Resources
familial expansile osteolysis	TNFRSF11A*	Tnfrsf11a		Alliance of Genome Resources
familial focal epilepsy with variable foci 1	DEPDC5*	Depdc5		Alliance of Genome Resources
familial focal epilepsy with variable foci 2	NPRL2*	Nprl2		Alliance of Genome Resources
familial focal epilepsy with variable foci 3	NPRL3*	Nprl3		Alliance of Genome Resources
familial focal epilepsy with variable foci 4	SCN3A*	Scn3a		Alliance of Genome Resources
familial gestational hyperthyroidism	TSHR*	Tshr		Alliance of Genome Resources
familial hyperinsulinemic hypoglycemia 1	ABCC8*	Abcc8		Alliance of Genome Resources
familial hyperinsulinemic hypoglycemia 2	KCNJ11*	Kcnj11		Alliance of Genome Resources
familial hyperinsulinemic hypoglycemia 5	INSR*	Insr		Alliance of Genome Resources
familial hyperinsulinemic hypoglycemia 6	GLUD1*, GLUD2	Glud1		Alliance of Genome Resources
familial hyperinsulinemic hypoglycemia 7	SLC16A1*	Slc16a1		Alliance of Genome Resources
familial hypocalciuric hypercalcemia 2	GNA11*	Gna11		Alliance of Genome Resources
familial hypocalciuric hypercalcemia 3	AP2S1*	Ap2s1		Alliance of Genome Resources
familial male-limited precocious puberty	LHCGR*	Lhcgr		Alliance of Genome Resources
familial medullary thyroid carcinoma	RET*	Ret	2 "NOT" models	Alliance of Genome Resources
familial partial lipodystrophy type 2	LMNA*	Lmna		Alliance of Genome Resources
familial partial lipodystrophy type 3	PPARG*	Pparg		Alliance of Genome Resources
familial partial lipodystrophy type 4	PLIN1*	Plin1		Alliance of Genome Resources
familial progressive hyperpigmentation with or without hypopigmentation	KITLG*	Kitl		Alliance of Genome Resources
familial temporal lobe epilepsy 5	CPA6*	Cpa6		Alliance of Genome Resources
familial temporal lobe epilepsy 7	RELN*	Reln		Alliance of Genome Resources
familial temporal lobe epilepsy 8	GAL*	Gal		Alliance of Genome Resources
familial visceral amyloidosis	FGA*	Fga		Alliance of Genome Resources
Fanconi anemia complementation group R	RAD51*	Rad51		Alliance of Genome Resources
Fanconi renotubular syndrome 1	GATM*	Gatm		Alliance of Genome Resources
Fanconi renotubular syndrome 3	EHHADH*	Ehhadh		Alliance of Genome Resources
Fanconi renotubular syndrome 4	HNF4A*	Hnf4a		Alliance of Genome Resources
Feingold syndrome	MYCN*	Mycn, Mycs		Alliance of Genome Resources
fibrochondrogenesis 2	COL11A2*	Col11a2		Alliance of Genome Resources
Finnish type amyloidosis	GSN*	Gsn		Alliance of Genome Resources
Floating-Harbor syndrome	SRCAP*	Srcap		Alliance of Genome Resources
focal nonepidermolytic palmoplantar keratoderma 1	KRT16*	Krt16		Alliance of Genome Resources
focal nonepidermolytic palmoplantar keratoderma 2	TRPV3*	Trpv3		Alliance of Genome Resources
focal or diffuse nonepidermolytic palmoplantar keratoderma	KRT6C*, KRT6A, KRT6B	Gm5414, Gm5478, Krt6a, Krt6b		Alliance of Genome Resources
focal segmental glomerulosclerosis 5	INF2*	Inf2		Alliance of Genome Resources
focal segmental glomerulosclerosis 7	PAX2*	Pax2		Alliance of Genome Resources
focal segmental glomerulosclerosis 8	ANLN*	Anln		Alliance of Genome Resources
foveal hypoplasia 1	PAX6*	Pax6		Alliance of Genome Resources
Frasier syndrome	WT1*	Wt1		Alliance of Genome Resources
frontometaphyseal dysplasia 2	MAP3K7*	Map3k7		Alliance of Genome Resources
geleophysic dysplasia 2	FBN1*	Fbn1		Alliance of Genome Resources
geleophysic dysplasia 3	LTBP3*	Ltbp3		Alliance of Genome Resources
giant axonal neuropathy 2	DCAF8*	Dcaf8		Alliance of Genome Resources
gingival fibromatosis 5	REST*	Rest		Alliance of Genome Resources
glomangioma	GLMN*	Glmn		Alliance of Genome Resources
glucose transporter type 1 deficiency syndrome 2	SLC2A1*	Slc2a1		Alliance of Genome Resources
granular corneal dystrophy 1	TGFBI*	Tgfbi		Alliance of Genome Resources
granular corneal dystrophy 2	TGFBI*	Tgfbi		Alliance of Genome Resources
growth hormone insensitivity syndrome with immune dysregulation 2	STAT5B*	Stat5b		Alliance of Genome Resources
Guttmacher syndrome	HOXA13*	Hoxa13		Alliance of Genome Resources
Hailey-Hailey disease	ATP2C1*	Atp2c1	1 "NOT" model	Alliance of Genome Resources
Harel-Yoon syndrome	ATAD3A*, ATAD3B, ATAD3C	Atad3a		Alliance of Genome Resources
hawkinsinuria	HPD*	Hpd		Alliance of Genome Resources
Heinz body anemia	HBB*, HBD	Hbb-b1, Hbb-b2, Hbb-bh2, Hbb-bs, Hbb-bt		Alliance of Genome Resources
Heinz body anemia	HBA1*, HBA2*	Hba-a1, Hba-a2		Alliance of Genome Resources
Helsmoortel-Van Der Aa Syndrome	ADNP*	Adnp		Alliance of Genome Resources
heparin cofactor II deficiency	SERPIND1*	Serpind1		Alliance of Genome Resources
hereditary angioedema	SERPING1*	Serping1		Alliance of Genome Resources
hereditary angioedema	ANGPT1*	Angpt1		Alliance of Genome Resources
hereditary angioedema	MYOF*	Myof		Alliance of Genome Resources
hereditary angioedema	F12*	F12		Alliance of Genome Resources
hereditary angioedema	PLG*	Plg		Alliance of Genome Resources
hereditary angioedema	KNG1*	Kng1, Kng2		Alliance of Genome Resources
hereditary angioedema	HS3ST6*	Hs3st6		Alliance of Genome Resources
hereditary angioedema type I	SERPING1*	Serping1		Alliance of Genome Resources
hereditary angioedema type III	F12*	F12		Alliance of Genome Resources
hereditary breast ovarian cancer syndrome	RAD51D*	Rad51d		Alliance of Genome Resources
hereditary breast ovarian cancer syndrome	RAD51C*	Rad51c		Alliance of Genome Resources
hereditary breast ovarian cancer syndrome	PALB2*	Palb2		Alliance of Genome Resources
hereditary breast ovarian cancer syndrome	BRCA2*	Brca2		Alliance of Genome Resources
hereditary breast ovarian cancer syndrome	BRCA1*	Brca1	3 models	Alliance of Genome Resources
hereditary diffuse gastric cancer	CDH1*	Cdh1		Alliance of Genome Resources
hereditary hemorrhagic telangiectasia	SMAD4*	Smad4		Alliance of Genome Resources
hereditary hemorrhagic telangiectasia	GDF2*	Gdf2		Alliance of Genome Resources
hereditary lymphedema IA	FLT4*	Flt4		Alliance of Genome Resources
hereditary lymphedema IC	GJC2*	Gjc2		Alliance of Genome Resources
hereditary lymphedema ID	VEGFC*	Vegfc		Alliance of Genome Resources
hereditary mixed polyposis syndrome 2	BMPR1A*	Bmpr1a		Alliance of Genome Resources
hereditary nonpolyposis colorectal cancer type 2	MLH1*	Mlh1		Alliance of Genome Resources
hereditary nonpolyposis colorectal cancer type 4	PMS2*, PMS2P1, PMS2P2, PMS2P6	Pms2		Alliance of Genome Resources
hereditary nonpolyposis colorectal cancer type 5	MSH6*	Msh6		Alliance of Genome Resources
hereditary nonpolyposis colorectal cancer type 6	TGFBR2*	Tgfbr2		Alliance of Genome Resources
hereditary nonpolyposis colorectal cancer type 7	MLH3*	Mlh3		Alliance of Genome Resources
hereditary nonpolyposis colorectal cancer type 8	EPCAM*	Epcam		Alliance of Genome Resources
hereditary sensory and autonomic neuropathy type 1A	SPTLC1*	Sptlc1		Alliance of Genome Resources
hereditary sensory and autonomic neuropathy type 1C	SPTLC2*	Sptlc2		Alliance of Genome Resources
hereditary sensory and autonomic neuropathy type 7	SCN11A*	Scn11a		Alliance of Genome Resources
hereditary sensory neuropathy type 1D	ATL1*	Atl1		Alliance of Genome Resources
hereditary sensory neuropathy type 1E	DNMT1*	Dnmt1		Alliance of Genome Resources
hereditary sensory neuropathy type 1F	ATL3*	Atl3		Alliance of Genome Resources
hereditary spastic paraplegia 10	KIF5A*	Kif5a		Alliance of Genome Resources
hereditary spastic paraplegia 12	RTN2*	Rtn2		Alliance of Genome Resources
hereditary spastic paraplegia 17	BSCL2*	Bscl2		Alliance of Genome Resources
hereditary spastic paraplegia 3A	ATL1*	Atl1		Alliance of Genome Resources
hereditary spastic paraplegia 42	SLC33A1*	Slc33a1		Alliance of Genome Resources
hereditary spastic paraplegia 6	NIPA1*	Nipa1		Alliance of Genome Resources
hereditary spastic paraplegia 72A	REEP2*	Reep2		Alliance of Genome Resources
hereditary spastic paraplegia 73	CPT1C*	Cpt1c		Alliance of Genome Resources
hereditary spastic paraplegia 79A	UCHL1*	Uchl1		Alliance of Genome Resources
hereditary spastic paraplegia 8	WASHC5*	Washc5	1 "NOT" model	Alliance of Genome Resources
hereditary spastic paraplegia 88	KPNA3*	Kpna3		Alliance of Genome Resources
hereditary spastic paraplegia 90A	SPTSSA*	Sptssa		Alliance of Genome Resources
hereditary spastic paraplegia 90B	SPTSSA*	Sptssa		Alliance of Genome Resources
hereditary spastic paraplegia 9A	ALDH18A1*	Aldh18a1		Alliance of Genome Resources
hereditary spherocytosis type 2	SPTB*	Sptb		Alliance of Genome Resources
holoprosencephaly 12	CNOT1*	Cnot1		Alliance of Genome Resources
holoprosencephaly 4	TGIF1*	Tgif1	1 "NOT" model	Alliance of Genome Resources
holoprosencephaly 7	PTCH1*	Ptch1		Alliance of Genome Resources
holoprosencephaly 9	GLI2*	Gli2		Alliance of Genome Resources
Holt-Oram syndrome	SALL4*	Sall4		Alliance of Genome Resources
hyperalphalipoproteinemia 1	CETP*
hyperferritinemia-cataract syndrome	FTL*	Ftl1, Ftl1-ps2, Ftl2-ps		Alliance of Genome Resources
hypertension and brachydactyly syndrome	PDE3A*	Pde3a		Alliance of Genome Resources
hypogonadotropic hypogonadism 14 with or without anosmia	WDR11*	Wdr11		Alliance of Genome Resources
hypogonadotropic hypogonadism 15 with or without anosmia	HS6ST1*	Hs6st1		Alliance of Genome Resources
hypogonadotropic hypogonadism 16 with or without anosmia	SEMA3A*	Sema3a		Alliance of Genome Resources
hypogonadotropic hypogonadism 17 with or without anosmia	SPRY4*	Spry4		Alliance of Genome Resources
hypogonadotropic hypogonadism 18 with or without anosmia	IL17RD*	Il17rd		Alliance of Genome Resources
hypogonadotropic hypogonadism 19 with or without anosmia	DUSP6*	Dusp6		Alliance of Genome Resources
hypogonadotropic hypogonadism 20 with or without anosmia	FGF17*	Fgf17		Alliance of Genome Resources
hypogonadotropic hypogonadism 21 with or without anosmia	FLRT3*	Flrt3		Alliance of Genome Resources
hypogonadotropic hypogonadism 2 with or without anosmia	FGFR1*	Fgfr1		Alliance of Genome Resources
hypogonadotropic hypogonadism 3 with or without anosmia	PROKR2*	Prokr2		Alliance of Genome Resources
hypogonadotropic hypogonadism 4 with or without anosmia	PROK2*	Prok2		Alliance of Genome Resources
hypogonadotropic hypogonadism 5 with or without anosmia	CHD7*	Chd7		Alliance of Genome Resources
hypogonadotropic hypogonadism 6 with or without anosmia	FGF8*	Fgf8		Alliance of Genome Resources
hypogonadotropic hypogonadism 9 with or without anosmia	NSMF*	Nsmf		Alliance of Genome Resources
hypoinsulinemic hypoglycemia with hemihypertrophy	AKT2*	Akt2		Alliance of Genome Resources
hypomyelinating leukodystrophy 16	TMEM106B*	Tmem106b		Alliance of Genome Resources
hypomyelinating leukodystrophy 19	TMEM63A*	Tmem63a		Alliance of Genome Resources
hypomyelinating leukodystrophy 22	CLDN11*	Cldn11		Alliance of Genome Resources
hypomyelinating leukodystrophy 24	ATP11A*	Atp11a		Alliance of Genome Resources
hypomyelinating leukodystrophy 25	TMEM163*	Tmem163		Alliance of Genome Resources
hypophosphatemic nephrolithiasis/osteoporosis 1	SLC34A1*	Slc34a1		Alliance of Genome Resources
hypophosphatemic nephrolithiasis/osteoporosis 2	NHERF1*	Nherf1		Alliance of Genome Resources
hypoplastic or aplastic tibia with polydactyly	SHH*	Shh		Alliance of Genome Resources
hypotonia, ataxia, and delayed development syndrome	EBF3*	Ebf3		Alliance of Genome Resources
hypotrichosis 1	SNRPE*	Snrpe, Snrpert		Alliance of Genome Resources
hypotrichosis 1	APCDD1*	Apcdd1		Alliance of Genome Resources
hypotrichosis 11	SNRPE*	Snrpe, Snrpert		Alliance of Genome Resources
hypotrichosis 12	RPL21*	Rpl21		Alliance of Genome Resources
hypotrichosis 2	CDSN*	Cdsn		Alliance of Genome Resources
hypotrichosis 3	KRT74*	Krt74		Alliance of Genome Resources
hypotrichosis 4	HRURF*
hypotrichosis 5	EPS8L3*	Eps8l3		Alliance of Genome Resources
hypotrichosis-lymphedema-telangiectasia-renal defect syndrome	SOX18*	Sox18		Alliance of Genome Resources
ichthyosis vulgaris	FLG*
idiopathic pulmonary fibrosis	TERT*	Tert		Alliance of Genome Resources
idiopathic pulmonary fibrosis	SFTPA2*, SFTPA1	Sftpa1		Alliance of Genome Resources
idiopathic pulmonary fibrosis	SETD2*	Setd2		Alliance of Genome Resources
idiopathic pulmonary fibrosis	PTGS2*	Ptgs2		Alliance of Genome Resources
idiopathic pulmonary fibrosis	MUC5B*	Muc5b		Alliance of Genome Resources
idiopathic pulmonary fibrosis	HLA-DRB1*, HLA-DRB3, HLA-DRB4, HLA-DRB5	H2-Eb1, H2-Eb2		Alliance of Genome Resources
idiopathic pulmonary fibrosis	EHMT2*	Ehmt2		Alliance of Genome Resources
idiopathic pulmonary fibrosis	CXCL5*, CXCL6	Cxcl5		Alliance of Genome Resources
idiopathic pulmonary fibrosis	BRD4*	Brd4		Alliance of Genome Resources
immunodeficiency 11B	CARD11*	Card11		Alliance of Genome Resources
immunodeficiency 13	UNC119*	Unc119		Alliance of Genome Resources
immunodeficiency 14	PIK3CD*	Pik3cd		Alliance of Genome Resources
immunodeficiency 21	GATA2*	Gata2		Alliance of Genome Resources
immunodeficiency 27B	IFNGR1*	Ifngr1		Alliance of Genome Resources
immunodeficiency 31A	STAT1*	Stat1		Alliance of Genome Resources
immunodeficiency 31C	STAT1*	Stat1		Alliance of Genome Resources
immunodeficiency 32A	IRF8*	Irf8		Alliance of Genome Resources
immunodeficiency 36	PIK3R1*	Pik3r1		Alliance of Genome Resources
immunodeficiency 39	IRF7*	Irf7		Alliance of Genome Resources
immunodeficiency 49	BCL11B*	Bcl11b		Alliance of Genome Resources
immunodeficiency 60	BACH2*	Bach2		Alliance of Genome Resources
immunodeficiency 70	IVNS1ABP*	Ivns1abp		Alliance of Genome Resources
immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis	RAC2*	Rac2		Alliance of Genome Resources
inclusion body myopathy and brain white matter abnormalities	ANXA11*	Anxa11		Alliance of Genome Resources
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1	VCP*	Vcp		Alliance of Genome Resources
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2	HNRNPA2B1*	Hnrnpa2b1		Alliance of Genome Resources
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3	HNRNPA1*, HNRNPA1L2	Hnrnpa1, Hnrnpa1l2-ps2		Alliance of Genome Resources
inflammatory bowel disease 29	INAVA*	Inava		Alliance of Genome Resources
inflammatory bowel disease 30	CARD8*
intellectual developmental disorder with autistic features and language delay, with or without seizures	TANC2*	Tanc2		Alliance of Genome Resources
intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies	TNPO2*	Tnpo2		Alliance of Genome Resources
intellectual disability-severe speech delay-mild dysmorphism syndrome	FOXP1*	Foxp1		Alliance of Genome Resources
interstitial lung disease 1	SFTPA1*, SFTPA2	Sftpa1		Alliance of Genome Resources
interstitial lung disease 2	MUC5B*	Muc5b		Alliance of Genome Resources
interstitial lung disease 2	SFTPA2*, SFTPA1	Sftpa1		Alliance of Genome Resources
intrahepatic cholestasis of pregnancy 1	ATP8B1*	Atp8b1		Alliance of Genome Resources
intrahepatic cholestasis of pregnancy 3	ABCB4*	Abcb4		Alliance of Genome Resources
ischiocoxopodopatellar syndrome	TBX4*	Tbx4		Alliance of Genome Resources
isolated elevated serum creatine phosphokinase levels	ANO5*	Ano5		Alliance of Genome Resources
isolated elevated serum creatine phosphokinase levels	CAV3*	Cav3		Alliance of Genome Resources
isolated microphthalmia 7	GDF3*	Gdf3		Alliance of Genome Resources
ITM2B-related cerebral amyloid angiopathy 1	ITM2B*	Itm2b		Alliance of Genome Resources
ITM2B-related cerebral amyloid angiopathy 2	ITM2B*	Itm2b		Alliance of Genome Resources
IVIC syndrome	SALL4*	Sall4		Alliance of Genome Resources
Jansen's metaphyseal chondrodysplasia	PTH1R*	Pth1r		Alliance of Genome Resources
juvenile amyotrophic lateral sclerosis type 27	SPTLC1*	Sptlc1		Alliance of Genome Resources
juvenile glaucoma	MYOC*	Myoc		Alliance of Genome Resources
juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome	SMAD4*	Smad4		Alliance of Genome Resources
Kenny-Caffey syndrome type 2	FAM111A*	Fam111a		Alliance of Genome Resources
keratosis palmoplantaris striata 1	DSG1*	Dsg1a, Dsg1b, Dsg1c		Alliance of Genome Resources
keratosis palmoplantaris striata 2	DSP*	Dsp		Alliance of Genome Resources
keratosis palmoplantaris striata 3	KRT1*	Krt1		Alliance of Genome Resources
King Denborough syndrome	RYR1*	Ryr1		Alliance of Genome Resources
Kleefstra syndrome 2	KMT2C*	Kmt2c		Alliance of Genome Resources
Klippel-Feil syndrome 1	GDF6*	Gdf6		Alliance of Genome Resources
Klippel-Feil syndrome 3	GDF3*	Gdf3		Alliance of Genome Resources
Kniest dysplasia	COL2A1*	Col2a1		Alliance of Genome Resources
lacrimoauriculodentodigital syndrome 1	FGFR2*	Fgfr2		Alliance of Genome Resources
lacrimoauriculodentodigital syndrome 2	FGFR3*	Fgfr3		Alliance of Genome Resources
lacrimoauriculodentodigital syndrome 3	FGF10*	Fgf10		Alliance of Genome Resources
Larsen syndrome	FLNB*	Flnb		Alliance of Genome Resources
lateral meningocele syndrome	NOTCH3*	Notch3		Alliance of Genome Resources
Laurin-Sandrow syndrome	LMBR1*	Lmbr1		Alliance of Genome Resources
Leber congenital amaurosis 11	IMPDH1*	Impdh1		Alliance of Genome Resources
Leber congenital amaurosis 13	RDH12*	Rdh12		Alliance of Genome Resources
Leber congenital amaurosis with early-onset deafness	TUBB4B*	Tubb4b		Alliance of Genome Resources
Legius syndrome	SPRED1*	Spred1		Alliance of Genome Resources
Lenz-Majewski hyperostotic dwarfism	PTDSS1*	Ptdss1		Alliance of Genome Resources
leucine-sensitive hypoglycemia of infancy	ABCC8*	Abcc8		Alliance of Genome Resources
Li-Fraumeni syndrome 1	TP53*	Trp53		Alliance of Genome Resources
Li-Fraumeni syndrome 2	CHEK2*	Chek2		Alliance of Genome Resources
lissencephaly 1	PAFAH1B1*	Pafah1b1		Alliance of Genome Resources
lissencephaly 10	CEP85L*	Cep85l		Alliance of Genome Resources
lissencephaly 3	TUBA1A*	Tuba1a		Alliance of Genome Resources
lissencephaly 9 with complex brainstem malformation	MACF1*	Macf1		Alliance of Genome Resources
Loeys-Dietz syndrome 1	TGFBR1*	Tgfbr1		Alliance of Genome Resources
Loeys-Dietz syndrome 2	TGFBR2*	Tgfbr2		Alliance of Genome Resources
Loeys-Dietz syndrome 3	SMAD3*	Smad3		Alliance of Genome Resources
Loeys-Dietz syndrome 4	TGFB2*	Tgfb2		Alliance of Genome Resources
Loeys-Dietz syndrome 5	TGFB3*	Tgfb3		Alliance of Genome Resources
Loeys-Dietz syndrome 6	SMAD2*	Smad2		Alliance of Genome Resources
long QT syndrome 10	SCN4B*	Scn4b		Alliance of Genome Resources
long QT syndrome 11	AKAP9*	Akap9		Alliance of Genome Resources
long QT syndrome 12	SNTA1*	Snta1		Alliance of Genome Resources
long QT syndrome 13	KCNJ5*	Kcnj5		Alliance of Genome Resources
long QT syndrome 14	CALM1*	Calm1		Alliance of Genome Resources
long QT syndrome 15	CALM2*	Calm2		Alliance of Genome Resources
long QT syndrome 16	CALM3*	Calm3		Alliance of Genome Resources
long QT syndrome 2	ALG10B*, ALG10	Alg10b		Alliance of Genome Resources
long QT syndrome 2	KCNH2*	Kcnh2		Alliance of Genome Resources
long QT syndrome 5	KCNE1*	Kcne1		Alliance of Genome Resources
long QT syndrome 6	KCNE2*	Kcne2		Alliance of Genome Resources
long QT syndrome 8	CACNA1C*	Cacna1c		Alliance of Genome Resources
long QT syndrome 9	CAV3*	Cav3		Alliance of Genome Resources
Luo-Schoch-Yamamoto syndrome	RNF2*	Rnf2		Alliance of Genome Resources
lymphedema-distichiasis syndrome	FOXC2*	Foxc2		Alliance of Genome Resources
Lynch syndrome	ACVR2A*	Acvr2a		Alliance of Genome Resources
Lynch syndrome	SMAD3*	Smad3		Alliance of Genome Resources
Lynch syndrome	SLC22A9*, SLC22A10, SLC22A24, SLC22A25	Slc22a19, Slc22a26, Slc22a27, Slc22a28, Slc22a29, Slc22a30		Alliance of Genome Resources
Lynch syndrome	MRE11*	Mre11a		Alliance of Genome Resources
Lynch syndrome	MSH6*	Msh6		Alliance of Genome Resources
Lynch syndrome	SMAD2*	Smad2		Alliance of Genome Resources
Lynch syndrome	PMS1*	Pms1		Alliance of Genome Resources
Lynch syndrome	TCF4*	Tcf4		Alliance of Genome Resources
Lynch syndrome	TGFBR1*	Tgfbr1		Alliance of Genome Resources
Lynch syndrome	RNASET2*	Rnaset2a, Rnaset2b		Alliance of Genome Resources
Lynch syndrome	TAF1B*	Taf1b		Alliance of Genome Resources
Lynch syndrome	MLH3*	Mlh3		Alliance of Genome Resources
Lynch syndrome	RNASEL*	Rnasel		Alliance of Genome Resources
Lynch syndrome	MARCKS*	Marcks		Alliance of Genome Resources
Lynch syndrome	KRAS*	Kras		Alliance of Genome Resources
Lynch syndrome	GSTT1*	Gstt1		Alliance of Genome Resources
Lynch syndrome	SMAD4*	Smad4		Alliance of Genome Resources
Lynch syndrome	GSTM1*, GSTM5	Gstm1, Gstm2, Gstm3, Gstm6		Alliance of Genome Resources
Lynch syndrome	TGFBR2*	Tgfbr2		Alliance of Genome Resources
Lynch syndrome	E2F4*	E2f4		Alliance of Genome Resources
Lynch syndrome	PMS2*, PMS2P1, PMS2P2, PMS2P6	Pms2		Alliance of Genome Resources
Lynch syndrome	ASTE1*	Aste1		Alliance of Genome Resources
Lynch syndrome 1	MSH2*	Msh2		Alliance of Genome Resources
Machado-Joseph disease	BECN1*	Becn1		Alliance of Genome Resources
Machado-Joseph disease	ATXN3*	Atxn3	1 model	Alliance of Genome Resources
malignant hyperthermia	CACNG1*	Cacng1		Alliance of Genome Resources
malignant hyperthermia	CACNA1S*	Cacna1s		Alliance of Genome Resources
mandibulofacial dysostosis, Guion-Almeida type	EFTUD2*	Eftud2	2 "NOT" models	Alliance of Genome Resources
maturity-onset diabetes of the young	HNF1A*	Hnf1a		Alliance of Genome Resources
maturity-onset diabetes of the young type 10	INS*	Ins1, Ins2		Alliance of Genome Resources
maturity-onset diabetes of the young type 11	BLK*	Blk		Alliance of Genome Resources
maturity-onset diabetes of the young type 13	KCNJ11*	Kcnj11		Alliance of Genome Resources
maturity-onset diabetes of the young type 14	APPL1*	Appl1		Alliance of Genome Resources
maturity-onset diabetes of the young type 5	HNF1B*	Hnf1b		Alliance of Genome Resources
maturity-onset diabetes of the young type 6	NEUROD1*	Neurod1		Alliance of Genome Resources
maturity-onset diabetes of the young type 7	KLF11*	Klf11		Alliance of Genome Resources
maturity-onset diabetes of the young type 8	CEL*	Cel		Alliance of Genome Resources
maturity-onset diabetes of the young type 9	PAX4*	Pax4		Alliance of Genome Resources
Meesmann corneal dystrophy 1	KRT12*	Krt12		Alliance of Genome Resources
Meesmann corneal dystrophy 2	KRT3*
megalencephalic leukoencephalopathy with subcortical cysts 2B	HEPACAM*	Hepacam		Alliance of Genome Resources
Meier-Gorlin syndrome 6	GMNN*	Gmnn		Alliance of Genome Resources
melanoma and neural system tumor syndrome	CDKN2A*	Cdkn2a		Alliance of Genome Resources
metachondromatosis	PTPN11*	Ptpn11		Alliance of Genome Resources
metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome	RUNX2*	Runx2		Alliance of Genome Resources
metatropic dysplasia	TRPV4*	Trpv4		Alliance of Genome Resources
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation	KIF11*	Kif11		Alliance of Genome Resources
Mitchell syndrome	ACOX1*	Acox1		Alliance of Genome Resources
mitochondrial complex V (ATP synthase) deficiency nuclear type 4A	ATP5F1A*	Atp5f1a		Alliance of Genome Resources
mitochondrial DNA depletion syndrome 12a	SLC25A4*	Slc25a4		Alliance of Genome Resources
Miura type epiphyseal chondrodysplasia	NPR2*	Npr2		Alliance of Genome Resources
monilethrix	KRT81*, KRT83*, KRT86*, KRT87P	Krt81, Krt83, Krt86, Krt87		Alliance of Genome Resources
Muckle-Wells syndrome	NLRP3*	Nlrp3		Alliance of Genome Resources
Muckle-Wells syndrome	IL1RN*	Il1rn		Alliance of Genome Resources
Muir-Torre syndrome	MSH2*	Msh2		Alliance of Genome Resources
Muir-Torre syndrome	MLH1*	Mlh1		Alliance of Genome Resources
Mullerian aplasia and hyperandrogenism	WNT4*	Wnt4		Alliance of Genome Resources
multiple cutaneous and mucosal venous malformations	TEK*	Tek		Alliance of Genome Resources
multiple endocrine neoplasia type 2A	RET*	Ret		Alliance of Genome Resources
multiple endocrine neoplasia type 4	CDKN1B*	Cdkn1b		Alliance of Genome Resources
multiple epiphyseal dysplasia 1	COMP*	Comp		Alliance of Genome Resources
multiple epiphyseal dysplasia 2	COL9A2*	Col9a2		Alliance of Genome Resources
multiple epiphyseal dysplasia 3	COL9A3*	Col9a3		Alliance of Genome Resources
multiple epiphyseal dysplasia 6	COL9A1*	Col9a1		Alliance of Genome Resources
multiple epiphyseal dysplasia with myopia and deafness	COL2A1*	Col2a1		Alliance of Genome Resources
multiple synostoses syndrome 1	GDF5*	Gdf5		Alliance of Genome Resources
multiple synostoses syndrome 1	NOG*	Nog		Alliance of Genome Resources
multiple synostoses syndrome 2	GDF5*	Gdf5		Alliance of Genome Resources
multiple synostoses syndrome 3	FGF9*	Fgf9		Alliance of Genome Resources
multiple synostoses syndrome 4	GDF6*	Gdf6		Alliance of Genome Resources
multiple types of congenital heart defects 6	GDF1*	Gdf1		Alliance of Genome Resources
myoclonic-atonic epilepsy	SLC6A1*	Slc6a1		Alliance of Genome Resources
myoclonic-atonic epilepsy	TBC1D24*	Tbc1d24		Alliance of Genome Resources
myoclonic dystonia 26	KCTD17*	Kctd17		Alliance of Genome Resources
myoclonic dystonia 34	KCNN2*	Kcnn2		Alliance of Genome Resources
myofibrillar myopathy 3	MYOT*	Myot	1 "NOT" model	Alliance of Genome Resources
myofibrillar myopathy 4	LDB3*	Ldb3		Alliance of Genome Resources
myofibrillar myopathy 6	BAG3*	Bag3		Alliance of Genome Resources
Naegeli-Franceschetti-Jadassohn syndrome	KRT14*	Krt14		Alliance of Genome Resources
nemaline myopathy 4	TPM2*	Tpm2		Alliance of Genome Resources
nemaline myopathy 5C	TNNT1*	Tnnt1		Alliance of Genome Resources
nephrogenic diabetes insipidus type 2	AQP2*	Aqp2		Alliance of Genome Resources
nephrotic syndrome type 4	WT1*	Wt1		Alliance of Genome Resources
NESCAV syndrome	KIF1A*	Kif1a		Alliance of Genome Resources
neurodegeneration with brain iron accumulation 3	FTL*	Ftl1, Ftl1-ps2, Ftl2-ps		Alliance of Genome Resources
neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities	SRSF1*	Srsf1		Alliance of Genome Resources
neurodevelopmental disorder with dysmorphic facies and thin corpus callosum	SUPT16H*	Supt16		Alliance of Genome Resources
neurodevelopmental disorder with eye movement abnormalities and ataxia	FRMD5*	Frmd5		Alliance of Genome Resources
neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures	CACNA1C*	Cacna1c		Alliance of Genome Resources
neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language	MEF2C*	Mef2c		Alliance of Genome Resources
neurodevelopmental disorder with speech impairment and dysmorphic facies	SETD1A*	Setd1a		Alliance of Genome Resources
neurofibromatosis-Noonan syndrome	NF1*	Nf1		Alliance of Genome Resources
neurogenic scapuloperoneal syndrome Kaeser type	DES*	Des		Alliance of Genome Resources
neuronal ceroid lipofuscinosis 4	DNAJC5*	Dnajc5		Alliance of Genome Resources
neuronal intranuclear inclusion disease	NOTCH2NLC*
neurooculocardiogenitourinary syndrome	WDR37*	Wdr37		Alliance of Genome Resources
nevoid basal cell carcinoma syndrome 1	PTCH1*	Ptch1		Alliance of Genome Resources
NFIA-related disorder	NFIA*	Nfia		Alliance of Genome Resources
Nicolaides-Baraitser syndrome	SMARCA2*	Smarca2		Alliance of Genome Resources
nonautoimmune hyperthyroidism	TSHR*	Tshr		Alliance of Genome Resources
nonprogressive cerebellar ataxia with mental retardation	CAMTA1*	Camta1		Alliance of Genome Resources
nonsyndromic congenital nail disorder 1	FZD6*	Fzd6		Alliance of Genome Resources
nonsyndromic congenital nail disorder 3	PLCD1*	Plcd1		Alliance of Genome Resources
nonsyndromic congenital nail disorder 8	COL7A1*	Col7a1		Alliance of Genome Resources
Noonan syndrome 11	MRAS*	Mras		Alliance of Genome Resources
Noonan syndrome 12	RRAS2*	Rras2		Alliance of Genome Resources
Noonan syndrome 13	MAPK1*	Mapk1		Alliance of Genome Resources
Noonan syndrome 6	NRAS*	Nras		Alliance of Genome Resources
Noonan syndrome 7	BRAF*	Braf		Alliance of Genome Resources
Noonan syndrome 9	SOS2*	Sos2		Alliance of Genome Resources
Noonan syndrome with multiple lentigines 1	PTPN11*	Ptpn11		Alliance of Genome Resources
Noonan syndrome with multiple lentigines 2	RAF1*	Raf1		Alliance of Genome Resources
Noonan syndrome with multiple lentigines 3	BRAF*	Braf		Alliance of Genome Resources
oblique facial clefting 1	SPECC1L*	Specc1l		Alliance of Genome Resources
oculopharyngodistal myopathy 1	LRP12*	Lrp12		Alliance of Genome Resources
oculopharyngodistal myopathy 2	GIPC1*	Gipc1		Alliance of Genome Resources
oculopharyngodistal myopathy 3	NOTCH2NLC*
oculopharyngodistal myopathy 4	RILPL1*	Rilpl1		Alliance of Genome Resources
omodysplasia 2	FZD2*	Fzd2		Alliance of Genome Resources
optic atrophy 1	OPA1*	Opa1		Alliance of Genome Resources
optic atrophy 1	WFS1*	Wfs1		Alliance of Genome Resources
optic atrophy 10	RTN4IP1*	Rtn4ip1		Alliance of Genome Resources
optic atrophy 12	AFG3L2*	Afg3l2		Alliance of Genome Resources
optic atrophy 3	OPA3*	Opa3		Alliance of Genome Resources
optic atrophy 5	DNM1L*	Dnm1l		Alliance of Genome Resources
orofacial cleft 6	IRF6*	Irf6		Alliance of Genome Resources
osteogenesis imperfecta type 2	COL1A2*	Col1a2		Alliance of Genome Resources
osteogenesis imperfecta type 4	COL1A2*	Col1a2		Alliance of Genome Resources
osteoglophonic dysplasia	FGFR1*	Fgfr1		Alliance of Genome Resources
otosclerosis	HLA-B*, HLA-A, HLA-C, HLA-E, HLA-F, HLA-G, HLA-H	H2-D1, H2-K1, H2-L, H2-M1, H2-M2, H2-M3, H2-M5, H2-M9, H2-M10.1, H2-M10.2, H2-M10.3, H2-M10.4, H2-M10.5, H2-M10.6, H2-M11, H2-Q1, H2-Q2, H2-Q4, H2-Q6, H2-Q7, H2-Q8, H2-Q10, H2-T3, H2-T10, H2-T22, H2-T23		Alliance of Genome Resources
otosclerosis	BMP2*	Bmp2		Alliance of Genome Resources
otosclerosis	VDR*	Vdr		Alliance of Genome Resources
otosclerosis	AGT*	Agt		Alliance of Genome Resources
otosclerosis	BMP4*	Bmp4		Alliance of Genome Resources
otosclerosis	COL1A1*	Col1a1		Alliance of Genome Resources
otosclerosis 11	FOXL1*	Foxl1		Alliance of Genome Resources
otospondylomegaepiphyseal dysplasia, autosomal dominant	COL11A2*	Col11a2		Alliance of Genome Resources
ovarian dysgenesis 8	ESR2*	Esr2		Alliance of Genome Resources
overhydrated hereditary stomatocytosis	RHAG*	Rhag		Alliance of Genome Resources
pachyonychia congenita	KRT6A*, KRT6B*, KRT6C	Gm5414, Gm5478, Krt6a, Krt6b	1 model	Alliance of Genome Resources
pachyonychia congenita	KRT17*	Krt17	1 model	Alliance of Genome Resources
Paget's disease of bone 2	TNFRSF11A*	Tnfrsf11a		Alliance of Genome Resources
Paget's disease of bone 3	SQSTM1*	Sqstm1		Alliance of Genome Resources
Paget's disease of bone 6	ZNF687*	Zfp687		Alliance of Genome Resources
palmoplantar keratoderma-deafness syndrome	GJB2*	Gjb2		Alliance of Genome Resources
pancreatic hypoplasia-diabetes-congenital heart disease syndrome	GATA6*	Gata6		Alliance of Genome Resources
PAPA syndrome	PSTPIP1*	Pstpip1		Alliance of Genome Resources
paraganglioma	SDHA*	Sdha		Alliance of Genome Resources
paraganglioma	SDHB*	Sdhb		Alliance of Genome Resources
paraganglioma	SLC25A11*	Slc25a11		Alliance of Genome Resources
paraganglioma	SDHAF2*	Sdhaf2		Alliance of Genome Resources
paraganglioma	DLST*	Dlst		Alliance of Genome Resources
paraganglioma	SDHD*	Sdhd	3 "NOT" models	Alliance of Genome Resources
paraganglioma	SDHC*	Sdhc	1 "NOT" model	Alliance of Genome Resources
paramyotonia congenita of Von Eulenburg	SCN4A*	Scn4a		Alliance of Genome Resources
parastremmatic dwarfism	TRPV4*	Trpv4		Alliance of Genome Resources
Parkinson's disease 22	CHCHD2*, CHCHD2P9	Chchd2, Chchd2-ps		Alliance of Genome Resources
paroxysmal extreme pain disorder	SCN9A*	Scn9a		Alliance of Genome Resources
paroxysmal nonkinesigenic dyskinesia 3	KCNMA1*	Kcnma1		Alliance of Genome Resources
permanent neonatal diabetes mellitus	GCK*	Gck		Alliance of Genome Resources
permanent neonatal diabetes mellitus	ABCC8*	Abcc8		Alliance of Genome Resources
Peroxisome biogenesis disorder 4B	PEX6*	Pex6		Alliance of Genome Resources
Perry syndrome	DCTN1*	Dctn1		Alliance of Genome Resources
piebaldism	SNAI2*	Snai2		Alliance of Genome Resources
pigmented paravenous chorioretinal atrophy	CRB1*	Crb1		Alliance of Genome Resources
Pitt-Hopkins syndrome	CNTNAP2*	Cntnap2		Alliance of Genome Resources
platelet-type bleeding disorder 15	ACTN1*	Actn1		Alliance of Genome Resources
platelet-type bleeding disorder 17	GFI1B*	Gfi1b		Alliance of Genome Resources
platelet-type bleeding disorder 20	SLFN14*	Slfn14		Alliance of Genome Resources
platelet-type bleeding disorder 3	GP1BA*	Gp1ba		Alliance of Genome Resources
polycystic kidney disease 3	GANAB*	Ganab		Alliance of Genome Resources
polycystic kidney disease 6	DNAJB11*	Dnajb11		Alliance of Genome Resources
polycystic kidney disease 7	ALG5*	Alg5		Alliance of Genome Resources
polycystic liver disease	GANAB*	Ganab		Alliance of Genome Resources
polycystic liver disease 1	PRKCSH*	Prkcsh		Alliance of Genome Resources
polycystic liver disease 1	LRP5*, LRP5L	Lrp5		Alliance of Genome Resources
polycystic liver disease 2	SEC63*	Sec63		Alliance of Genome Resources
polycystic liver disease 3	ALG8*	Alg8		Alliance of Genome Resources
polycystic liver disease 4	LRP5*, LRP5L	Lrp5		Alliance of Genome Resources
posterior polymorphous corneal dystrophy 1	VSX1*	Vsx1		Alliance of Genome Resources
posterior polymorphous corneal dystrophy 1	OVOL2*	Ovol2		Alliance of Genome Resources
posterior polymorphous corneal dystrophy 2	COL8A2*	Col8a2		Alliance of Genome Resources
posterior polymorphous corneal dystrophy 4	GRHL2*	Grhl2		Alliance of Genome Resources
primary autosomal dominant microcephaly 18	WDFY3*	Wdfy3		Alliance of Genome Resources
primary ciliary dyskinesia 43	FOXJ1*	Foxj1		Alliance of Genome Resources
primary failure of tooth eruption	PTH1R*	Pth1r		Alliance of Genome Resources
primary ovarian insufficiency 11	ERCC6*	Ercc6		Alliance of Genome Resources
primary ovarian insufficiency 16	BNC1*	Bnc1		Alliance of Genome Resources
primary ovarian insufficiency 3	FOXL2*	Foxl2		Alliance of Genome Resources
primary ovarian insufficiency 5	NOBOX*	Nobox		Alliance of Genome Resources
primary ovarian insufficiency 6	FIGLA*	Figla		Alliance of Genome Resources
primary ovarian insufficiency 7	NR5A1*	Nr5a1		Alliance of Genome Resources
primary pigmented nodular adrenocortical disease 1	PRKAR1A*	Prkar1a		Alliance of Genome Resources
primary pigmented nodular adrenocortical disease 2	PDE11A*	Pde11a		Alliance of Genome Resources
primary pigmented nodular adrenocortical disease 4	PRKACA*	Prkaca		Alliance of Genome Resources
progeria	GH1*, CSH1, CSH2, CSHL1, GH2	Gh		Alliance of Genome Resources
progressive familial heart block type IB	TRPM4*	Trpm4		Alliance of Genome Resources
progressive myoclonus epilepsy 7	KCNC1*	Kcnc1		Alliance of Genome Resources
progressive osseous heteroplasia	GNAS*	Gnas		Alliance of Genome Resources
protein C deficiency	PROC*	Proc		Alliance of Genome Resources
proteosome-associated autoinflammatory syndrome 2	POMP*	Pomp		Alliance of Genome Resources
proximal symphalangism	NOG*	Nog		Alliance of Genome Resources
proximal symphalangism 1	NOG*	Nog		Alliance of Genome Resources
proximal symphalangism 2	GDF5*	Gdf5		Alliance of Genome Resources
pulmonary venoocclusive disease 1	BMPR2*	Bmpr2		Alliance of Genome Resources
Rapp-Hodgkin syndrome	TP63*	Trp63		Alliance of Genome Resources
renal hypomagnesemia 7, with or without dilated cardiomyopathy	RRAGD*	Rragd		Alliance of Genome Resources
retinal arterial tortuosity	COL4A1*	Col4a1		Alliance of Genome Resources
retinal macular dystrophy 2	PROM1*	Prom1		Alliance of Genome Resources
retinal macular dystrophy 4	CLEC3B*	Clec3b		Alliance of Genome Resources
retinal vasculopathy with cerebral leukodystrophy	TREX1*	Trex1		Alliance of Genome Resources
retinitis pigmentosa 10	IMPDH1*	Impdh1		Alliance of Genome Resources
retinitis pigmentosa 27	NRL*	Nrl		Alliance of Genome Resources
retinitis pigmentosa 33	SNRNP200*	Snrnp200		Alliance of Genome Resources
retinitis pigmentosa 35	SEMA4A*	Sema4a		Alliance of Genome Resources
retinitis pigmentosa 37	NR2E3*	Nr2e3		Alliance of Genome Resources
retinitis pigmentosa 42	KLHL7*	Klhl7		Alliance of Genome Resources
retinitis pigmentosa 60	PRPF6*	Prpf6		Alliance of Genome Resources
retinitis pigmentosa 7	ROM1*	Rom1		Alliance of Genome Resources
retinitis pigmentosa 70	PRPF4*	Prpf4		Alliance of Genome Resources
retinitis pigmentosa 83	ARL3*	Arl3		Alliance of Genome Resources
retinitis pigmentosa 87	RPE65*	Rpe65		Alliance of Genome Resources
retinitis pigmentosa 89	KIF3B*	Kif3b		Alliance of Genome Resources
retinitis pigmentosa 9	RP9*	Rp9		Alliance of Genome Resources
Revesz syndrome	TINF2*	Tinf2		Alliance of Genome Resources
ring dermoid of cornea	PITX2*	Pitx2		Alliance of Genome Resources
Rubinstein-Taybi syndrome	EP300*	Ep300		Alliance of Genome Resources
SADDAN	FGFR3*	Fgfr3		Alliance of Genome Resources
Saethre-Chotzen syndrome	FGFR2*	Fgfr2		Alliance of Genome Resources
Saul-Wilson syndrome	COG4*	Cog4		Alliance of Genome Resources
scapuloperoneal spinal muscular atrophy	TRPV4*	Trpv4		Alliance of Genome Resources
Schinzel Giedion syndrome	SETBP1*	Setbp1		Alliance of Genome Resources
schizophrenia 15	SHANK3*	Shank3		Alliance of Genome Resources
schizophrenia 4	PRODH*	Prodh		Alliance of Genome Resources
schizophrenia 6	NRG1*	Nrg1		Alliance of Genome Resources
Schopf-Schulz-Passarge syndrome	WNT10A*	Wnt10a		Alliance of Genome Resources
Schuurs-Hoeijmakers Syndrome	PACS1*	Pacs1		Alliance of Genome Resources
schwannomatosis	SMARCB1*	Smarcb1		Alliance of Genome Resources
schwannomatosis	LZTR1*	Lztr1		Alliance of Genome Resources
schwannomatosis 1	SMARCB1*	Smarcb1		Alliance of Genome Resources
schwannomatosis 2	LZTR1*	Lztr1		Alliance of Genome Resources
selective pituitary thyroid hormone resistance	THRB*	Thrb		Alliance of Genome Resources
sepiapterin reductase deficiency	SPR*	Spr		Alliance of Genome Resources
severe congenital neutropenia 1	ELANE*	Elane		Alliance of Genome Resources
severe congenital neutropenia 2	GFI1*	Gfi1		Alliance of Genome Resources
severe congenital neutropenia 8	SRP54*	Srp54a, Srp54b, Srp54c		Alliance of Genome Resources
Sifrim-Hitz-Weiss syndrome	CHD4*	Chd4		Alliance of Genome Resources
snowflake vitreoretinal degeneration	KCNJ13*	Kcnj13		Alliance of Genome Resources
solitary median maxillary central incisor	SHH*	Shh		Alliance of Genome Resources
Sotos syndrome 1	NSD1*	Nsd1		Alliance of Genome Resources
spastic ataxia 1	VAMP1*	Vamp1		Alliance of Genome Resources
speech-language disorder-1	FOXP2*	Foxp2		Alliance of Genome Resources
spermatogenic failure 10	SEPTIN12*	Septin12		Alliance of Genome Resources
spermatogenic failure 11	KLHL10*	Klhl10		Alliance of Genome Resources
spermatogenic failure 12	NANOS1*	Nanos1		Alliance of Genome Resources
spermatogenic failure 2	MSH4*	Msh4		Alliance of Genome Resources
spermatogenic failure 3	SLC26A8*	Slc26a8		Alliance of Genome Resources
spermatogenic failure 3	SRSF6*	Srsf6		Alliance of Genome Resources
spermatogenic failure 32	SOHLH1*	Sohlh1		Alliance of Genome Resources
spermatogenic failure 36	PPP2R3C*	Ppp2r3c		Alliance of Genome Resources
spermatogenic failure 4	SYCP3*	Gm773, Sycp3		Alliance of Genome Resources
spermatogenic failure 8	NR5A1*	Nr5a1		Alliance of Genome Resources
spinal muscular atrophy, Jokela type	CHCHD10*	Chchd10		Alliance of Genome Resources
spinal muscular atrophy with lower extremity predominant 1	DYNC1H1*	Dync1h1		Alliance of Genome Resources
spinal muscular atrophy with lower extremity predominant 2A	BICD2*	Bicd2		Alliance of Genome Resources
spinal muscular atrophy with lower extremity predominant 2B	BICD2*	Bicd2		Alliance of Genome Resources
spinal muscular atrophy with lower extremity predominant 2B	ND6*	mt-Nd6		Alliance of Genome Resources
spinal neurofibromatosis	NF1*	Nf1		Alliance of Genome Resources
spinocerebellar ataxia 44	GRM1*	Grm1		Alliance of Genome Resources
spinocerebellar ataxia 45	FAT2*	Fat2		Alliance of Genome Resources
spinocerebellar ataxia 46	PLD3*	Pld3		Alliance of Genome Resources
spinocerebellar ataxia type 10	ATXN10*	Atxn10		Alliance of Genome Resources
spinocerebellar ataxia type 11	TTBK2*	Ttbk2		Alliance of Genome Resources
spinocerebellar ataxia type 12	PPP2R2B*	Ppp2r2b		Alliance of Genome Resources
spinocerebellar ataxia type 13	KCNC3*	Kcnc3		Alliance of Genome Resources
spinocerebellar ataxia type 15	ITPR1*	Itpr1	2 models	Alliance of Genome Resources
spinocerebellar ataxia type 19/22	KCND3*	Kcnd3		Alliance of Genome Resources
spinocerebellar ataxia type 21	TMEM240*	Tmem240		Alliance of Genome Resources
spinocerebellar ataxia type 23	PDYN*	Pdyn		Alliance of Genome Resources
spinocerebellar ataxia type 25	PNPT1*	Pnpt1		Alliance of Genome Resources
spinocerebellar ataxia type 26	EEF2*	Eef2		Alliance of Genome Resources
spinocerebellar ataxia type 29	ITPR1*	Itpr1		Alliance of Genome Resources
spinocerebellar ataxia type 31	BEAN1*	Bean1		Alliance of Genome Resources
spinocerebellar ataxia type 34	ELOVL4*	Elovl4		Alliance of Genome Resources
spinocerebellar ataxia type 35	TGM6*	Tgm6		Alliance of Genome Resources
spinocerebellar ataxia type 36	NOP56*	Nop56		Alliance of Genome Resources
spinocerebellar ataxia type 37	DAB1*	Dab1		Alliance of Genome Resources
spinocerebellar ataxia type 38	ELOVL5*	Elovl5		Alliance of Genome Resources
spinocerebellar ataxia type 4	ZFHX3*	Zfhx3		Alliance of Genome Resources
spinocerebellar ataxia type 40	CCDC88C*	Ccdc88c		Alliance of Genome Resources
spinocerebellar ataxia type 8	ATXN8OS*
spinocerebellar ataxia type 8	ATXN8*
split hand-foot malformation 4	TP63*	Trp63		Alliance of Genome Resources
spondyloepimetaphyseal dysplasia, Missouri type	MMP13*	Mmp13		Alliance of Genome Resources
spondyloepimetaphyseal dysplasia, Strudwick type	COL2A1*	Col2a1		Alliance of Genome Resources
spondyloepimetaphyseal dysplasia with joint laxity type 2	KIF22*	Kif22		Alliance of Genome Resources
spondyloepiphyseal dysplasia Kimberley type	ACAN*	Acan		Alliance of Genome Resources
spondyloepiphyseal dysplasia Maroteaux type	TRPV4*	Trpv4		Alliance of Genome Resources
spondyloepiphyseal dysplasia Nishimura type	MIR140*	Mir140		Alliance of Genome Resources
spondyloepiphyseal dysplasia Stanescu type	COL2A1*	Col2a1		Alliance of Genome Resources
spondylometaphyseal dysplasia corner fracture type	FN1*	Fn1		Alliance of Genome Resources
spondylometaphyseal dysplasia Kozlowski type	TRPV4*	Trpv4		Alliance of Genome Resources
spondyloperipheral dysplasia	COL2A1*	Col2a1		Alliance of Genome Resources
steatocystoma multiplex	KRT17*	Krt17		Alliance of Genome Resources
Stickler syndrome 1	COL2A1*	Col2a1		Alliance of Genome Resources
Stickler syndrome 2	COL11A1*	Col11a1		Alliance of Genome Resources
stiff skin syndrome	FBN1*	Fbn1		Alliance of Genome Resources
Sweeney-Cox syndrome	TWIST1*	Twist1		Alliance of Genome Resources
syndactyly-telecanthus-anogenital and renal malformations syndrome	CCNQ*	Ccnq		Alliance of Genome Resources
syndactyly type 1	IHH*	Ihh		Alliance of Genome Resources
syndactyly type 3	GJA1*, GJA6P	Gja1, Gja6		Alliance of Genome Resources
syndactyly type 4	LMBR1*	Lmbr1		Alliance of Genome Resources
syndactyly type 4	SHH*	Shh		Alliance of Genome Resources
syndactyly type 5	HOXD13*	Hoxd13		Alliance of Genome Resources
syndromic microphthalmia 3	SOX2*	Sox2		Alliance of Genome Resources
syndromic microphthalmia 5	OTX2*	Otx2		Alliance of Genome Resources
syndromic microphthalmia 6	BMP4*	Bmp4		Alliance of Genome Resources
tarsal-carpal coalition syndrome	NOG*	Nog		Alliance of Genome Resources
Tatton-Brown-Rahman syndrome	DNMT3A*	Dnmt3a		Alliance of Genome Resources
terminal osseous dysplasia	FLNA*	Flna		Alliance of Genome Resources
Thiel-Behnke corneal dystrophy	TGFBI*	Tgfbi		Alliance of Genome Resources
Thomsen disease	CLCN1*	Clcn1		Alliance of Genome Resources
thrombophilia due to activated protein C resistance	PROC*	Proc		Alliance of Genome Resources
thrombophilia due to activated protein C resistance	F5*	F5		Alliance of Genome Resources
thrombophilia due to HRG deficiency	HRG*	Hrg		Alliance of Genome Resources
thrombophilia due to thrombin defect	F2*	F2		Alliance of Genome Resources
thrombophilia due to thrombin defect	MTHFR*	Mthfr		Alliance of Genome Resources
thrombophilia due to thrombin defect	HABP2*	Habp2		Alliance of Genome Resources
thrombophilia due to thrombin defect	F13A1*	F13a1		Alliance of Genome Resources
torsion dystonia 4	TUBB4A*	Tubb4a		Alliance of Genome Resources
Townes-Brocks syndrome	DACT1*	Dact1		Alliance of Genome Resources
Treacher Collins syndrome 1	TCOF1*	Tcof1		Alliance of Genome Resources
Treacher Collins syndrome 2	POLR1D*	Polr1d		Alliance of Genome Resources
Treacher Collins syndrome 3	POLR1C*	Polr1c		Alliance of Genome Resources
Treacher Collins syndrome 4	POLR1B*	Polr1b		Alliance of Genome Resources
trichodontoosseous syndrome	DLX3*	Dlx3		Alliance of Genome Resources
trichorhinophalangeal syndrome type III	TRPS1*	Trps1		Alliance of Genome Resources
tuberous sclerosis 1	TSC1*	Tsc1		Alliance of Genome Resources
tuberous sclerosis 2	TSC2*	Tsc2		Alliance of Genome Resources
tuberous sclerosis 2	IFNG*	Ifng		Alliance of Genome Resources
tubular aggregate myopathy 2	ORAI1*	Orai1		Alliance of Genome Resources
type 1 diabetes mellitus 2	INS*	Ins1, Ins2		Alliance of Genome Resources
Ullrich congenital muscular dystrophy 1A	COL6A1*	Col6a1		Alliance of Genome Resources
Ullrich congenital muscular dystrophy 1B	COL6A2*	Col6a2		Alliance of Genome Resources
Ullrich congenital muscular dystrophy 1C	COL6A3*	Col6a3		Alliance of Genome Resources
Ullrich congenital muscular dystrophy 2	COL12A1*	Col12a1		Alliance of Genome Resources
uveal coloboma-cleft lip and palate-intellectual disability	YAP1*	Yap1		Alliance of Genome Resources
vertebral anomalies and variable endocrine and T-cell dysfunction	TBX2*	Tbx2		Alliance of Genome Resources
vertebral hypersegmentation and orofacial anomalies	GDF11*	Gdf11		Alliance of Genome Resources
vestibular schwannomatosis	VEGFA*	Vegfa		Alliance of Genome Resources
vestibular schwannomatosis	SMARCB1*	Smarcb1		Alliance of Genome Resources
Vissers-Bodmer syndrome	CNOT1*	Cnot1		Alliance of Genome Resources
Vohwinkel syndrome	GJB2*	Gjb2		Alliance of Genome Resources
Vulto-van Silfout-de Vries syndrome	DEAF1*	Deaf1		Alliance of Genome Resources
Waardenburg syndrome	EDN3*	Edn3		Alliance of Genome Resources
Waardenburg syndrome	PAX3*	Pax3		Alliance of Genome Resources
Waardenburg syndrome	EDNRB*	Ednrb		Alliance of Genome Resources
Waardenburg syndrome	KITLG*	Kitl		Alliance of Genome Resources
Waardenburg syndrome	MITF*	Mitf		Alliance of Genome Resources
Waardenburg syndrome type 2E	SOX10*	Sox10		Alliance of Genome Resources
Waardenburg syndrome type 3	PAX3*	Pax3	5 "NOT" models	Alliance of Genome Resources
Watson syndrome	NF1*	Nf1		Alliance of Genome Resources
Weyers acrofacial dysostosis	EVC*	Evc		Alliance of Genome Resources
Weyers acrofacial dysostosis	EVC2*	Evc2		Alliance of Genome Resources
white sponge nevus 1	KRT4*	Krt4		Alliance of Genome Resources
white sponge nevus 2	KRT13*	Krt13		Alliance of Genome Resources
White-Sutton syndrome	POGZ*	Pogz		Alliance of Genome Resources
Williams-Beuren syndrome	BUD23*	Bud23	2 models	Alliance of Genome Resources
Williams-Beuren syndrome	DNAJC30*	Dnajc30	2 models	Alliance of Genome Resources
Williams-Beuren syndrome	ELN*	Eln	2 models	Alliance of Genome Resources
Williams-Beuren syndrome	FKBP6*	Fkbp6	2 models	Alliance of Genome Resources
Williams-Beuren syndrome	FZD3*	Fzd3		Alliance of Genome Resources
Williams-Beuren syndrome	LAT2*	Lat2	2 models	Alliance of Genome Resources
Williams-Beuren syndrome	NCF1*, NCF1B, NCF1C	Ncf1		Alliance of Genome Resources
Williams-Beuren syndrome	RCC1L*	Rcc1l		Alliance of Genome Resources
Worth syndrome	LRP5*, LRP5L	Lrp5		Alliance of Genome Resources
ZTTK syndrome	SON*	Son		Alliance of Genome Resources

---

	Transgenes and other genome features developed in mice to model this disease.
	Disease Term	Transgenes and Other Genome Features	Mouse Models
	abdominal obesity-metabolic syndrome	Tg(RP11-578M14)5Mkru	1 model
	abdominal obesity-metabolic syndrome 1	Tg(Fabp4-Hsd11b1)7Jesf	1 model
	abdominal obesity-metabolic syndrome 1	Tg(Fabp4-ENPP1)#Naba	1 model
	adult-onset autosomal dominant demyelinating leukodystrophy	Tg(Lmnb1)1Yfu	1 model
	adult-onset autosomal dominant demyelinating leukodystrophy	Tg(Plp1-LMNB1)1108Qsp	1 model
	adult-onset autosomal dominant demyelinating leukodystrophy	Tg(Plp1-Lmnb1)#Yfu	1 model
	advanced sleep phase syndrome 1	Tg(PER2*S662G)867Ljp	1 model
	advanced sleep phase syndrome 2	Tg(CSNK1D*,-EGFP)816Yfu	1 model
	advanced sleep phase syndrome 2	Tg(CSNK1D*,-EGFP)827Yfu	1 model
	age related macular degeneration 1	Tg(APOB)1102Sgy	1 model
	Alexander disease	Tg(Gfap-GFAP*R239H)60TMIke	1 model
	Alexander disease	Tg(GFAP)10Mes	3 models
	Alexander disease	Tg(GFAP)7Mes	1 model
	Alzheimer's disease 3	Tg(PSEN1H163R)G9Btla	1 model
	Alzheimer's disease 3	Tg(APPswe,PSEN1dE9)85Dbo	2 models
	Alzheimer's disease 3	Tg(APPSwFlLon,PSEN1*M146L*L286V)6799Vas	1 model
	Alzheimer's disease 3	Tg(PSEN1dE9)S9Dbo	4 models
	Alzheimer's disease 4	Tg(APP695)3Dbo	3 models
	amyotrophic lateral sclerosis type 1	Tg(SOD1*L126Z)#Deng	2 models
	amyotrophic lateral sclerosis type 1	Tg(SOD1*G85R)#Roos	2 models
	amyotrophic lateral sclerosis type 1	Tg(SOD1*G85R/EYFP)641Alho	1 model
	amyotrophic lateral sclerosis type 1	Tg(SOD1*G85R/EYFP)737Alho	1 model
	amyotrophic lateral sclerosis type 1	Tg(Sod1*G86R)M1Jwg	1 model
	amyotrophic lateral sclerosis type 1	Tg(SOD1*G93A)1Gur	6 models
	amyotrophic lateral sclerosis type 1	Tg(SOD1*G93A)2Gur	1 model
	amyotrophic lateral sclerosis type 1	Tg(SOD1*G93A)dl1Gur	2 models
	amyotrophic lateral sclerosis type 1	Tg(SOD1*G127X)716Mrkl	1 model
	amyotrophic lateral sclerosis type 1	Tg(SOD1*H46R)#Maw	1 model
	amyotrophic lateral sclerosis type 1	Tg(SOD1*H46R)IAra	1 model
	amyotrophic lateral sclerosis type 1	Tg(SOD1*H46R)LAra	1 model
	amyotrophic lateral sclerosis type 1	Tg(SOD1*H46R*H48Q)58Dbo	1 model
	amyotrophic lateral sclerosis type 1	Tg(SOD1*H46R*H48Q)139Dbo	1 model
	amyotrophic lateral sclerosis type 1	Tg(SOD1*L126Z)45Dbo	1 model
	amyotrophic lateral sclerosis type 1	Tg(Thy1-DCTN1*G59S)M2Pcw	1 model
	amyotrophic lateral sclerosis type 1	Tg(Thy1-Sncg)HvP36Putt	1 model
	amyotrophic lateral sclerosis type 1	Tg(Thy1-SOD1*G93A)T3Hgrd	2 models
	amyotrophic lateral sclerosis type 1	Tg(Myl1-SOD1*G93A)#Amu	1 model
	amyotrophic lateral sclerosis type 1	Tg(NEFH)200Jpj	2 models
	amyotrophic lateral sclerosis type 1	Tg(NFH)120Jpj	2 models
	amyotrophic lateral sclerosis type 1	Tg(Prnp-Immt/SOD1*G93A)7Gmnf	1 model
	amyotrophic lateral sclerosis type 1	Tg(Prnp-SOD1*G37R,-PSEN1)110Dbo	1 model
	amyotrophic lateral sclerosis type 1	Tg(SOD1*)125Dbo	1 model
	amyotrophic lateral sclerosis type 1	Tg(SOD1*)D-14Dbo	2 models
	amyotrophic lateral sclerosis type 1	Tg(SOD1*)DF7Yaw	2 models
	amyotrophic lateral sclerosis type 1	Tg(SOD1*G37R)1Dwc	2 models
	amyotrophic lateral sclerosis type 1	Tg(SOD1*G37R)9Dpr	1 model
	amyotrophic lateral sclerosis type 1	Tg(SOD1*G37R)29Dpr	1 model
	amyotrophic lateral sclerosis type 1	Tg(SOD1*G37R)42Dpr	1 model
	amyotrophic lateral sclerosis type 1	Tg(SOD1*G37R)106Dpr	1 model
	amyotrophic lateral sclerosis type 1	Tg(SOD1*G85R)74Dwc	1 model
	amyotrophic lateral sclerosis type 1	Tg(SOD1*G85R)148Dwc	1 model
	arrhythmogenic right ventricular dysplasia 12	Tg(Myh6-JUP*)1Dpju	1 model
	arrhythmogenic right ventricular dysplasia 12	Tg(Myh6-Jup*)1Ajm	2 models
	arrhythmogenic right ventricular dysplasia 9	Tg(Myh6-Pkp2*/mRuby)4Rbrug	2 models
	arrhythmogenic right ventricular dysplasia 9	Tg(Myh6-Pkp2*/mRuby)5Rbrug	2 models
	autosomal dominant auditory neuropathy 1	Tg(CAG-Diaph3)771Lesp	1 model
	autosomal dominant auditory neuropathy 1	Tg(CAG-Diap3)924Lesp	1 model
	autosomal dominant hypophosphatemic rickets	Tg(APOE-FGF23*R176Q)#Ack	1 model
	autosomal dominant keratitis-ichthyosis-deafness syndrome	Tg(tetO-GJB2*G45E,-EGFP)#Tww	1 model
	autosomal dominant limb-girdle muscular dystrophy type 1	Tg(Ckm-DNAJB6_ib*F93L)#Ccwe	1 model
	autosomal dominant nocturnal frontal lobe epilepsy 3	Tg(tetO-Chrnb2*V287L)H3Gica	1 model
	autosomal dominant polycystic kidney disease	Tg(HBB-Myc)#Cos	1 model
	Axenfeld-Rieger syndrome type 1	Tg(Kera-PITX2*A)AHjal	1 model
	Axenfeld-Rieger syndrome type 1	Tg(Kera-PITX2*A)BHjal	1 model
	Axenfeld-Rieger syndrome type 1	Tg(KRT14-Hmgn2)#Baam	1 model
	CADASIL 1	Tg(Notch3*R169C)88Bbb	1 model
	Carney complex	Tg(tetO-Prkar1a*x2as)1Stra	1 model
	cataract 2 multiple types	Tg(CRYBB1-CRYGC*)#Jfhe	1 model
	cataract 30	Tg(Vim*R113C)1Tmm	1 model
	cataract 5 multiple types	Tg(Hsf4/EGFP)N7Spbh	1 model
	Charcot-Marie-Tooth disease axonal type 2F	Tg(Thy1-HSPB1*S135F)#Lvdb	1 model
	Charcot-Marie-Tooth disease type 1A	Tg(tetO/CMV-Pmp22)JP18Clh	1 model
	Charcot-Marie-Tooth disease type 1A	Tg(Pmp22)My41Clh	1 model
	Charcot-Marie-Tooth disease type 1A	Tg(PMP22)C61Clh	1 model
	Charcot-Marie-Tooth disease type 1A	Tg(PMP22)C22Clh	1 model
	Charcot-Marie-Tooth disease type 1A	Tg(PMP22)C3Fbas	1 model
	Charcot-Marie-Tooth disease type 1A	Tg(Pmp22)247Ueli	1 model
	Charcot-Marie-Tooth disease type 1B	Tg(Mpz)88.4Mfel	1 model
	Charcot-Marie-Tooth disease type 1B	Tg(Mpz*S63X)30Mes	1 model
	Charcot-Marie-Tooth disease type 1B	Tg(Mpz*S63X)31Mes	2 models
	Charcot-Marie-Tooth disease type 1B	Tg(Mpz)88.1Mfel	1 model
	Charcot-Marie-Tooth disease type 1B	Tg(Mpz)88.2Mfel	1 model
	Charcot-Marie-Tooth disease type 1C	Tg(CMV-LITAF*W116G)#Lli	1 model
	Charcot-Marie-Tooth disease type 2A2A	Tg(Eno2-MFN2*R94Q)L51Ugfm	2 models
	Charcot-Marie-Tooth disease type 2A2A	Tg(Eno2-MFN2*R94Q)L87Ugfm	1 model
	Charcot-Marie-Tooth disease type 2A2A	Tg(Mnx1-Mfn2*T105M,-EGFP)1Dcc	1 model
	Charcot-Marie-Tooth disease type 2E	Tg(tetO-NEFL)173.2Jpj	1 model
	Charcot-Marie-Tooth disease type 2E	Tg(NEFL*E397K)#Milg	1 model
	Charcot-Marie-Tooth disease type 3	Tg(Mpz*S63C)32Mes	1 model
	Charcot-Marie-Tooth disease type 3	Tg(Mpz*S63C)33Mes	1 model
	congenital myasthenic syndrome 3A	Tg(Ckm-Chrnd*S262T)40Cgz	1 model
	congenital myasthenic syndrome 4A	Tg(Ckm-Chrne*L269F)5Cgz	1 model
	congenital stationary night blindness autosomal dominant 1	Tg(Rho*G90D*A337V)202Sie	1 model
	dentatorubral-pallidoluysian atrophy	Tg(Prnp-ATN1)124Dbo	1 model
	dentatorubral-pallidoluysian atrophy	Tg(Prnp-ATN1)150Dbo	1 model
	dentatorubral-pallidoluysian atrophy	Tg(Eno2-ATN1)3Tx	1 model
	dentatorubral-pallidoluysian atrophy	Tg(ATN1*)Q129Stsu	1 model
	dentatorubral-pallidoluysian atrophy	Tg(Eno2-ATN1)14Tx	1 model
	DiGeorge syndrome	Del(16Dgcr2-Hira)1Rak	1 model
	DiGeorge syndrome	Del(16Dgcr2-Hira)3Aam	1 model
	DiGeorge syndrome	Del(16Es2el-Ufd1l)217Bld	1 model
	dilated cardiomyopathy 1A	Tg(Myh6-LMNA*E82K)35Lizh	1 model
	dilated cardiomyopathy 1C	Tg(Myh6-LDB3*S196L)93Mva	1 model
	dilated cardiomyopathy 1D	Tg(Myh6-TNNT2*R141W)#Lian	1 model
	dilated cardiomyopathy 1D	Tg(Myh6-TNNT2*R141W)#Ajm	1 model
	dilated cardiomyopathy 1E	Tg(Myh6*/tetO-SCN5A*F1759A)#Marx	1 model
	dilated cardiomyopathy 1R	Tg(Myh6-ACTC1*E361G)361.20Sbm	1 model
	dilated cardiomyopathy 1R	Tg(Myh6-Actc1*R312H)307Iko	1 model
	dilated cardiomyopathy 1Y	Tg(Myh6-Tpm1*D230N)HJcf	1 model
	dilated cardiomyopathy 1Y	Tg(Myh6-Tpm1*E54K)30Dfw	1 model
	dilated cardiomyopathy 1Y	Tg(Myh6-Tpm1*E54K)67Dfw	1 model
	familial cold autoinflammatory syndrome 4	Tg(Cd74-Nlrc4*)1Kyas	1 model
	familial encephalopathy with neuroserpin inclusion bodies	Tg(Thy1-SERPINI1*G392E)333Icka	2 models
	familial temporal lobe epilepsy 1	Tg(Lgi1*)#Mpan	1 model
	Feingold syndrome	Mirc1	1 model
	fibrodysplasia ossificans progressiva	Tg(CAG-LacZ,-ACVR1*,-EGFP)35-1Mis	1 model
	fibrodysplasia ossificans progressiva	Tg(Eno2-Bmp4)3Jake	1 model
	Finnish type amyloidosis	Tg(Ckm-GSN*D187N)AJewe	2 models
	focal segmental glomerulosclerosis 2	Tg(NPHS2-Trpc6)F419Walz	1 model
	focal segmental glomerulosclerosis 2	Tg(NPHS2-Trpc6*P111Q)F615Walz	1 model
	focal segmental glomerulosclerosis 2	Tg(NPHS2-Trpc6*E896K)F75aWalz	1 model
	Grn-related frontotemporal lobar degeneration with Tdp43 inclusions	Tg(Thy1-TARDBP*)BOddo	2 models
	Grn-related frontotemporal lobar degeneration with Tdp43 inclusions	Tg(TARDBP*G348C)#Jpj	1 model
	Grn-related frontotemporal lobar degeneration with Tdp43 inclusions	Tg(TARDBP*A315T)#Jpj	1 model
	Grn-related frontotemporal lobar degeneration with Tdp43 inclusions	Tg(TARDBP)#Jpj	1 model
	Grn-related frontotemporal lobar degeneration with Tdp43 inclusions	Tg(Prnp-TARDBP)3cPtrc	1 model
	Grn-related frontotemporal lobar degeneration with Tdp43 inclusions	Tg(Camk2a-Tardbp)#Ckjs	1 model
	hyperekplexia 1	Tg(Thy1-GLRA1*R271Q)382Wha	1 model
	hyperekplexia 1	Tg(Thy1-GLRA1*R271Q)300Wha	1 model
	hyper IgE recurrent infection syndrome 1	Tg(Stat3*)9199Alau	1 model
	idiopathic pulmonary fibrosis	Tg(H2-K-Fosl2,-EGFP)13Wag	1 model
	idiopathic pulmonary fibrosis	Tg(SFTPC-Tnf)2Pva	1 model
	juvenile polyposis syndrome	Tg(CAG-Bmpr1a*,-lacZ)1Nobs	1 model
	long QT syndrome 1	Tg(Myh6-KCNQ1_i2)H02Desc	1 model
	long QT syndrome 1	Tg(Myh6-KCNQ1_i2)H05Desc	1 model
	Machado-Joseph disease	Tg(CMV-ATXN3*135Q)CPama	1 model
	Machado-Joseph disease	Tg(Prnp-ATXN3*148Q)NLS.28Olri	1 model
	Machado-Joseph disease	Tg(Prnp-ATXN3*148Q)148.19Olri	1 model
	Machado-Joseph disease	Tg(Prnp-ATXN3*79Q)#Hlw	1 model
	Machado-Joseph disease	Tg(Prnp-ATXN3*70Q)70.61Olri	1 model
	Machado-Joseph disease	Tg(Pcp2-ATXN3*69Q)bHirai	1 model
	Machado-Joseph disease	Tg(Htt-ATXN3*148Q)3746Thsc	1 model
	Machado-Joseph disease	Tg(CMV-ATXN3*94Q)94Pama	2 models
	Machado-Joseph disease	Tg(ATXN3*)84.2Cce	3 models
	Machado-Joseph disease	Tg(ATXN3*)67.2Cce	2 models
	Marsili syndrome	Tg(Zfhx2*R1907K)#Jcox	1 model
	maturity-onset diabetes of the young type 3	Tg(Ins2-Hnf1a)#Cbw	1 model
	maturity-onset diabetes of the young type 3	Tg(Ins2-TCF1*P291)2Kya	1 model
	myofibrillar myopathy 1	Tg(Myh6-Des*)641Rbns	1 model
	myofibrillar myopathy 2	Tg(Myh6-Cryab*R120G)708Rbns	1 model
	myofibrillar myopathy 2	Tg(Myh6-CRYAB*R120G)7302Ijb	1 model
	myofibrillar myopathy 3	Tg(ACTA1-MYOT*T57I)71Mah	1 model
	myofibrillar myopathy 6	Tg(Myh6-BAG3*P209L)#Mswi	1 model
	neurodegeneration with brain iron accumulation 3	Tg(PGK1-FTL*)#Sle	1 model
	neurodegeneration with brain iron accumulation 3	Tg(Prnp-FTL*)4Ruvi	1 model
	Noonan syndrome 1	Tg(CAG-cat,-Ptpn11*Q97R)1Rbns	2 models
	Noonan syndrome 1	Tg(Myh7-Ptpn11*Q79R)11Rbns	1 model
	Noonan syndrome with multiple lentigines	Tg(Myh7-Ptpn11*Q510E)#Krnz	1 model
	Noonan syndrome with multiple lentigines	Tg(CAG-cat,-Ptpn11*Q510E)#Krnz	1 model
	osteogenesis imperfecta type 1	Tg(COL1A1)73Prc	1 model
	osteogenesis imperfecta type 5	Tg(Col1a1-Ifitm5*)1Brle	1 model
	Parkinson's disease 1	Tg(Thy1-SNCA*A30P)18Pjk	1 model
	Parkinson's disease 1	Tg(PDGFB-SNCA)4Ema	1 model
	Parkinson's disease 1	Tg(Thy1-SNCA*E57K)16Ema	1 model
	Parkinson's disease 1	Tg(PDGFB-SNCA*A53T)8Ema	1 model
	Parkinson's disease 1	Tg(PDGFB-SNCA/EGFP)78Ema	1 model
	Parkinson's disease 1	Tg(Prnp-SNCA*A53T)25Mkle	1 model
	Parkinson's disease 1	Tg(Prnp-SNCA*A53T)83Vle	2 models
	Parkinson's disease 1	Tg(Prnp-SNCA*A53T)AAub	2 models
	Parkinson's disease 1	Tg(SNCA)ARyot	1 model
	Parkinson's disease 1	Tg(SNCA*E46K)3Elan	1 model
	Parkinson's disease 1	Tg(Snca-SNCA)#Galt	1 model
	Parkinson's disease 1	Tg(Th-SNCA*)1702Yosh	1 model
	Parkinson's disease 1	Tg(Thy1-SNCA)61Ema	1 model
	Parkinson's disease 1	Tg(THY1-SNCA*A53T)M53Sud	1 model
	Parkinson's disease 1	Tg(Thy1-SNCA*)#Ztzh	1 model
	Parkinson's disease 4	Tg(Thy1-Snca)1S13Putt	1 model
	Parkinson's disease 8	Tg(PDGFB-LRRK2*G2019S)32Hlw	1 model
	Parkinson's disease 8	Tg(Lrrk2*G2019S)2Yue	1 model
	Parkinson's disease 8	Tg(PDGFB-LRRK2*R1441C)31Hlw	1 model
	paroxysmal nonkinesigenic dyskinesia 1	Tg(Pnkd*A7V*A9V,-DsRed)704Ljp	1 model
	paroxysmal nonkinesigenic dyskinesia 1	Tg(Pnkd*A7V*A9V,-DsRed)671Ljp	1 model
	PCWH syndrome	Tg(Venus/SOX10*)55Kein	2 models
	Perry syndrome	Tg(Thy1-DCTN1*G71A)#Ytsu	1 model
	polycystic kidney disease 1	Tg(Pkd1*)39Mtru	2 models
	polycystic kidney disease 2	Tg(CAG-PKD2)#Hwl	1 model
	progeria	Tg(tetO-LMNA*G608G,-EGFP)VF1-07Maer	1 model
	progeria	Tg(LMNA*G608G)HClns	1 model
	pseudoachondroplasia	Tg(Col2a1-rtTA,tetO-COMP*)2Jath	1 model
	retinitis pigmentosa 4	Tg(Rho)1Wbae	1 model
	retinitis pigmentosa 4	Tg(RHO-P23H)DTpd	1 model
	retinitis pigmentosa 4	Tg(RHO*P347S)A1Tili	3 models
	rippling muscle disease 2	Tg(Ckmm-Cav3)1Ysu	1 model
	spinocerebellar ataxia type 1	Tg(tetO-ATXN1*82Q)#Horr	1 model
	spinocerebellar ataxia type 1	Tg(Pcp2-ATXN1*82Q)5Horr	1 model
	spinocerebellar ataxia type 10	Tg(Prnp-lacZ/ATXN10*)#Teas	1 model
	spinocerebellar ataxia type 14	Tg(tetO-PRKCG*S361G,-GFP)3Jpka	1 model
	spinocerebellar ataxia type 17	Tg(Prnp-TBP*)71-27Xjl	1 model
	spinocerebellar ataxia type 17	Tg(Pcp2-TBP*)69Hmhl	1 model
	spinocerebellar ataxia type 17	Tg(Prnp-TBP*)71-16Xjl	1 model
	spinocerebellar ataxia type 17	Tg(Prnp-TBP*)105Xjl	1 model
	spinocerebellar ataxia type 2	Tg(Pcp2-ATXN2*127Q)#Plt	1 model
	spinocerebellar ataxia type 2	Tg(ATXN2*72Q)#Plt	1 model
	spinocerebellar ataxia type 5	Tg(tetO-SPTBN2*)#Lpwr	1 model
	spinocerebellar ataxia type 7	Tg(GFAP-ATXN7*92Q)2542Als	1 model
	spinocerebellar ataxia type 7	Tg(RHO-SCA7)R7EJman	1 model
	spinocerebellar ataxia type 7	Tg(Prnp-ATXN7*92Q)6076Als	1 model
	spinocerebellar ataxia type 7	Tg(Prnp-ATXN7*92Q)1963Als	1 model
	spinocerebellar ataxia type 7	Tg(Pcp2-SCA7)P7EJman	1 model
	spinocerebellar ataxia type 7	Tg(GFAP-ATXN7*92Q)2521Als	1 model
	split hand-foot malformation 1	Del(6Dlx6-Dlx5)1Tlu	1 model
	spondyloepiphyseal dysplasia congenita	Tg(Col2a1*R789C)#Waho	1 model
	Stargardt disease	Tg(RBP3-ELOVL4*)1Kzh	1 model
	Stargardt disease	Tg(RBP3-ELOVL4*)3Kzh	1 model
	Stargardt disease	Tg(RBP3-ELOVL4*)2Kzh	1 model
	torsion dystonia 1	Tg(CMV-TOR1A*)2Nush	1 model
	torsion dystonia 1	Tg(Eno2-TOR1A*)13Shas	1 model
	torsion dystonia 1	Tg(CMV-TOR1A*)1Nush	1 model
	transthyretin amyloidosis	Tg(TTR-V30M)15Imeg	3 models
	transthyretin amyloidosis	Tg(TTR)#Jbux	1 model
	tuberous sclerosis	Tg(CMV-Tsc2*)1Arbi	1 model
	tuberous sclerosis	Tg(CAG-Mtor*)#Atai	1 model
	type 1 diabetes mellitus 2	Tg(Ins-Igf2)1Fbos	3 models
	Williams-Beuren syndrome	Del(5Gtf2i-Fkbp6)1Vcam	1 model