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
			autosomal recessive limb-girdle muscular dystrophy type 2A	CAPN3*	Capn3*	3 models	Alliance of Genome Resources
			autosomal recessive limb-girdle muscular dystrophy type 2B	DYSF*	Dysf*	5 models	Alliance of Genome Resources
			autosomal recessive limb-girdle muscular dystrophy type 2C	SGCG*	Sgcg*	2 models	Alliance of Genome Resources
			autosomal recessive limb-girdle muscular dystrophy type 2D	SGCA*	Sgca*	3 models	Alliance of Genome Resources
			autosomal recessive limb-girdle muscular dystrophy type 2E	SGCB*	Sgcb*	2 models	Alliance of Genome Resources
			autosomal recessive limb-girdle muscular dystrophy type 2F	SGCD*	Sgcd*	3 models	Alliance of Genome Resources
			autosomal recessive limb-girdle muscular dystrophy type 2G	TCAP*	Tcap*	1 model	Alliance of Genome Resources
			autosomal recessive limb-girdle muscular dystrophy type 2H	TRIM32*	Trim32*	2 models	Alliance of Genome Resources
			autosomal recessive limb-girdle muscular dystrophy type 2I	FKRP*	Fkrp*	4 models	Alliance of Genome Resources
			autosomal recessive limb-girdle muscular dystrophy type 2J	TTN*	Ttn*	3 models	Alliance of Genome Resources
			autosomal recessive limb-girdle muscular dystrophy type 2L	ANO5*	Ano5*	1 model	Alliance of Genome Resources
			autosomal recessive limb-girdle muscular dystrophy type 2P	DAG1*	Dag1*	1 model	Alliance of Genome Resources
			autosomal recessive limb-girdle muscular dystrophy type 2U	CRPPA*	Crppa*	1 model	Alliance of Genome Resources
			Becker muscular dystrophy	DMD*	Dmd*	1 model	Alliance of Genome Resources
			Bethlem myopathy	COL6A1*	Col6a1*	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 2S	IGHMBP2*	Ighmbp2*	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 recessive intermediate D	COX6A1*	Cox6a1*	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 2B1	LMNA*	Lmna*	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 4B1	MTMR2*	Mtmr2*	2 models	Alliance of Genome Resources
			Charcot-Marie-Tooth disease type 4B2	SBF2*	Sbf2*	2 models	Alliance of Genome Resources
			Charcot-Marie-Tooth disease type 4B3	SBF1*	Sbf1*	1 model	Alliance of Genome Resources
			Charcot-Marie-Tooth disease type 4C	SH3TC2*	Sh3tc2*	1 model	Alliance of Genome Resources
			Charcot-Marie-Tooth disease type 4D	NDRG1*	Ndrg1*	2 models	Alliance of Genome Resources
			Charcot-Marie-Tooth disease type 4E	EGR2*	Egr2*	2 models	Alliance of Genome Resources
			Charcot-Marie-Tooth disease type 4H	FGD4*	Fgd4*	1 model	Alliance of Genome Resources
			Charcot-Marie-Tooth disease type 4J	FIG4*	Fig4*	2 models	Alliance of Genome Resources
			Charcot-Marie-Tooth disease X-linked dominant 1	GJB1*	Gjb1*	4 models	Alliance of Genome Resources
			congenital merosin-deficient muscular dystrophy 1A	LAMA2*	Lama2*	10 models	Alliance of Genome Resources
			congenital muscular dystrophy due to integrin alpha-7 deficiency	ITGA7*	Itga7*	1 model	Alliance of Genome Resources
			congenital muscular dystrophy due to LMNA mutation	LMNA*	Lmna*	1 model	Alliance of Genome Resources
			congenital myasthenic syndrome 10	DOK7*	Dok7*	1 model	Alliance of Genome Resources
			congenital myasthenic syndrome 11	RAPSN*	Rapsn*	1 model	Alliance of Genome Resources
			congenital myasthenic syndrome 12	GFPT1*	Gfpt1*	1 model	Alliance of Genome Resources
			congenital myasthenic syndrome 19	COL13A1*	Col13a1*	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 myasthenic syndrome 4C	CHRNE*	Chrne*	1 model	Alliance of Genome Resources
			congenital myasthenic syndrome 5	COLQ*	Colq*	1 model	Alliance of Genome Resources
			congenital myasthenic syndrome 6	CHAT*	Chat*	2 models	Alliance of Genome Resources
			congenital myasthenic syndrome 8	AGRN*	Agrn*	1 model	Alliance of Genome Resources
			congenital myasthenic syndrome 9	MUSK*	Musk*	3 models	Alliance of Genome Resources
			congenital nystagmus 1	FRMD7*	Frmd7*	2 models	Alliance of Genome Resources
			Duane retraction syndrome	CHN1*	Chn1*	1 model	Alliance of Genome Resources
			Duane retraction syndrome	MAFB*	Mafb*	2 models	Alliance of Genome Resources
			Duchenne muscular dystrophy	DMD*	Dmd*	30 models	Alliance of Genome Resources
			Emery-Dreifuss muscular dystrophy	LMNA*	Lmna*	2 models	Alliance of Genome Resources
			familial episodic pain syndrome 3	SCN11A*	Scn11a*	1 model	Alliance of Genome Resources
Fukuyama congenital muscular dystrophy	FKTN*	Fktn*	6 models	Alliance of Genome Resources
giant axonal neuropathy 1	GAN*	Gan*	2 models	Alliance of Genome Resources
hereditary neuropathy with liability to pressure palsies	PMP22*	Pmp22*	3 models	Alliance of Genome Resources
hereditary sensory and autonomic neuropathy type 6	DST*	Dst*	1 model	Alliance of Genome Resources
hereditary sensory neuropathy	NTRK1*	Ntrk1*	2 models	Alliance of Genome Resources
Leber hereditary optic neuropathy	ND6*	mt-Nd6*	1 model	Alliance of Genome Resources
megaconial type congenital muscular dystrophy	CHKB*	Chkb*	1 model	Alliance of Genome Resources
muscular dystrophy	FKRP*	Fkrp*	1 model	Alliance of Genome Resources
muscular dystrophy-dystroglycanopathy type B1	POMT1*	Pomt1*	1 model	Alliance of Genome Resources
muscular dystrophy-dystroglycanopathy type B5	FKRP*	Fkrp*	1 model	Alliance of Genome Resources
muscular dystrophy-dystroglycanopathy type B6	LARGE1*	Large1*	1 model	Alliance of Genome Resources
myotonic dystrophy type 1	DMPK*	Dmpk*	2 models	Alliance of Genome Resources
optic atrophy	OPA1*	Opa1*	3 models	Alliance of Genome Resources
rigid spine muscular dystrophy 1	SELENON*	Selenon*	1 model	Alliance of Genome Resources
Riley-Day syndrome	ELP1*	Elp1*	5 models	Alliance of Genome Resources
tibial muscular dystrophy	TTN*	Ttn*	1 model	Alliance of Genome Resources
Walker-Warburg syndrome	POMGNT1*	Pomgnt1*	2 models	Alliance of Genome Resources
			Charcot-Marie-Tooth disease intermediate type	CFAP276	Cfap276*	2 models	Alliance of Genome Resources
			Charcot-Marie-Tooth disease type 6	SLC25A46	Slc25a46*	1 model	Alliance of Genome Resources
			congenital fibrosis of the extraocular muscles	KIF21A	Kif21a*	3 models	Alliance of Genome Resources
			congenital fibrosis of the extraocular muscles	TUBB3	Tubb3*	1 model	Alliance of Genome Resources
			congenital muscular dystrophy	COL6A3	Col6a3*	1 model	Alliance of Genome Resources
			congenital nystagmus	AHR	Ahr*	1 model	Alliance of Genome Resources
			distal myopathy	DNAJB4	Dnajb4*	2 models	Alliance of Genome Resources
			distal myopathy	DYSF	Dysf*	4 models	Alliance of Genome Resources
			Duchenne muscular dystrophy	CTSS	Ctss*	1 model	Alliance of Genome Resources
			Emery-Dreifuss muscular dystrophy	ZMPSTE24	Zmpste24*	1 model	Alliance of Genome Resources
			Emery-Dreifuss muscular dystrophy	SYNE1	Syne1*	1 model	Alliance of Genome Resources
			facioscapulohumeral muscular dystrophy	LARGE1	Large1*	1 model	Alliance of Genome Resources
			facioscapulohumeral muscular dystrophy	FAT1	Fat1*	3 models	Alliance of Genome Resources
			hereditary sensory neuropathy	DST	Dst*	1 model	Alliance of Genome Resources
			hereditary sensory neuropathy	SCN11A	Scn11a*	1 model	Alliance of Genome Resources
			Lambert-Eaton myasthenic syndrome	CACNA1A	Cacna1a*	1 model	Alliance of Genome Resources
			limb-girdle muscular dystrophy	SGCG	Sgcg*	1 model	Alliance of Genome Resources
			motor peripheral neuropathy	SLC12A6	Slc12a6*	1 model	Alliance of Genome Resources
			motor peripheral neuropathy	STMN2	Stmn2*	2 models	Alliance of Genome Resources
			muscular dystrophy-dystroglycanopathy type B1	FKTN	Fktn*	3 models	Alliance of Genome Resources
			muscular dystrophy-dystroglycanopathy type B1	POMGNT1	Pomgnt1*	1 model	Alliance of Genome Resources
			muscular dystrophy-dystroglycanopathy type B1	LARGE1	Large1*	3 models	Alliance of Genome Resources
			muscular dystrophy-dystroglycanopathy type B1	FKRP	Fkrp*	2 models	Alliance of Genome Resources
			muscular dystrophy-dystroglycanopathy type B1	B4GAT1	B4gat1*	1 model	Alliance of Genome Resources
			myotonic disease	MBNL1	Mbnl1*	2 models	Alliance of Genome Resources
			neuromuscular disease	NEMF	Nemf*	3 models	Alliance of Genome Resources
			neuropathy	NEMF	Nemf*	3 models	Alliance of Genome Resources
			neuropathy	STMN2	Stmn2*	1 model	Alliance of Genome Resources
			neuropathy	MPZ	Mpz*	2 models	Alliance of Genome Resources
			optic atrophy	RPL24	Rpl24*	1 model	Alliance of Genome Resources
			scapuloperoneal myopathy	FHL1	Fhl1*	1 model	Alliance of Genome Resources
			trigeminal neuralgia	GABRG1	Gabrg1*	1 model	Alliance of Genome Resources
			Ullrich congenital muscular dystrophy	COL6A3	Col6a3*	1 model	Alliance of Genome Resources
			Ullrich congenital muscular dystrophy	COL6A1	Col6a1*	1 model	Alliance of Genome Resources
			Walker-Warburg syndrome	COL4A1	Col4a1*	1 model	Alliance of Genome Resources
			anterior ischemic optic neuropathy	ND1*	mt-Nd1		Alliance of Genome Resources
			anterior ischemic optic neuropathy	NOS3*	Nos3		Alliance of Genome Resources
			anterior ischemic optic neuropathy	CSF3*	Csf3		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 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 recessive congenital nystagmus	ROBO1*	Robo1		Alliance of Genome Resources
			autosomal recessive Emery-Dreifuss muscular dystrophy 3	LMNA*	Lmna		Alliance of Genome Resources
			autosomal recessive limb-girdle muscular dystrophy	HMGCR*	Hmgcr		Alliance of Genome Resources
			autosomal recessive limb-girdle muscular dystrophy	LAMA2*	Lama2		Alliance of Genome Resources
			autosomal recessive limb-girdle muscular dystrophy	POMT2*	Pomt2		Alliance of Genome Resources
			autosomal recessive limb-girdle muscular dystrophy	POPDC3*	Popdc3		Alliance of Genome Resources
			autosomal recessive limb-girdle muscular dystrophy	JAG2*	Jag2		Alliance of Genome Resources
			autosomal recessive limb-girdle muscular dystrophy type 2D	DAG1*	Dag1		Alliance of Genome Resources
			autosomal recessive limb-girdle muscular dystrophy type 2K	POMT1*	Pomt1		Alliance of Genome Resources
			autosomal recessive limb-girdle muscular dystrophy type 2L	FKTN*	Fktn		Alliance of Genome Resources
			autosomal recessive limb-girdle muscular dystrophy type 2M	FKTN*	Fktn		Alliance of Genome Resources
			autosomal recessive limb-girdle muscular dystrophy type 2N	POMT2*	Pomt2		Alliance of Genome Resources
			autosomal recessive limb-girdle muscular dystrophy type 2O	POMGNT1*	Pomgnt1		Alliance of Genome Resources
			autosomal recessive limb-girdle muscular dystrophy type 2Q	PLEC*	Plec		Alliance of Genome Resources
			autosomal recessive limb-girdle muscular dystrophy type 2S	TRAPPC11*	Trappc11		Alliance of Genome Resources
			autosomal recessive limb-girdle muscular dystrophy type 2T	GMPPB*	Gmppb		Alliance of Genome Resources
			autosomal recessive limb-girdle muscular dystrophy type 2W	LIMS2*	Lims2		Alliance of Genome Resources
			autosomal recessive limb-girdle muscular dystrophy type 2X	POPDC1*	Popdc1		Alliance of Genome Resources
			autosomal recessive limb-girdle muscular dystrophy type 2Y	TOR1AIP1*	Tor1aip1		Alliance of Genome Resources
			autosomal recessive limb-girdle muscular dystrophy type 2Z	POGLUT1*	Poglut1		Alliance of Genome Resources
			Bethlem myopathy	COL6A2*	Col6a2		Alliance of Genome Resources
			Bethlem myopathy	COL6A3*	Col6a3		Alliance of Genome Resources
			Bethlem myopathy	COL12A1*	Col12a1		Alliance of Genome Resources
			bilateral optic nerve hypoplasia	PAX6*	Pax6		Alliance of Genome Resources
			brachial plexus neuritis	SEPTIN9*	Septin9		Alliance of Genome Resources
			Brody myopathy	ATP2A1*	Atp2a1		Alliance of Genome Resources
			Charcot-Marie-Tooth disease	MFN2*	Mfn2		Alliance of Genome Resources
			Charcot-Marie-Tooth disease	MPZ*	Mpz		Alliance of Genome Resources
			Charcot-Marie-Tooth disease	NEFL*	Nefl		Alliance of Genome Resources
			Charcot-Marie-Tooth disease	ITPR3*	Itpr3		Alliance of Genome Resources
			Charcot-Marie-Tooth disease	GDAP1*	Gdap1		Alliance of Genome Resources
			Charcot-Marie-Tooth disease	JAG1*	Jag1		Alliance of Genome Resources
			Charcot-Marie-Tooth disease	CADM3*	Cadm3		Alliance of Genome Resources
			Charcot-Marie-Tooth disease	NRG1*	Nrg1		Alliance of Genome Resources
			Charcot-Marie-Tooth disease	PMP22*	Pmp22		Alliance of Genome Resources
			Charcot-Marie-Tooth disease	POLR3B*	Polr3b		Alliance of Genome Resources
			Charcot-Marie-Tooth disease	SLC12A6*	Slc12a6		Alliance of Genome Resources
			Charcot-Marie-Tooth disease	FBLN5*	Fbln5		Alliance of Genome Resources
			Charcot-Marie-Tooth disease axonal type 2C	GDAP1*	Gdap1		Alliance of Genome Resources
			Charcot-Marie-Tooth disease axonal type 2C	TRPV4*	Trpv4		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 axonal type 2X	SPG11*	Spg11		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 recessive intermediate A	GDAP1*	Gdap1		Alliance of Genome Resources
Charcot-Marie-Tooth disease recessive intermediate B	KARS1*	Kars1		Alliance of Genome Resources
Charcot-Marie-Tooth disease recessive intermediate C	PLEKHG5*	Plekhg5		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 2A2B	MFN2*	Mfn2		Alliance of Genome Resources
Charcot-Marie-Tooth disease type 2B2	PNKP*	Pnkp		Alliance of Genome Resources
Charcot-Marie-Tooth disease type 2DD	ATP1A1*	Atp1a1		Alliance of Genome Resources
Charcot-Marie-Tooth disease type 2EE	MPV17*	Mpv17		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 2R	TRIM2*	Trim2		Alliance of Genome Resources
Charcot-Marie-Tooth disease type 2Y	VCP*	Vcp		Alliance of Genome Resources
Charcot-Marie-Tooth disease type 3	EGR2*	Egr2		Alliance of Genome Resources
Charcot-Marie-Tooth disease type 3	PRX*	Prx		Alliance of Genome Resources
Charcot-Marie-Tooth disease type 4A	GDAP1*	Gdap1		Alliance of Genome Resources
Charcot-Marie-Tooth disease type 4F	PRX*	Prx		Alliance of Genome Resources
Charcot-Marie-Tooth disease type 4G	HK1*	Hk1		Alliance of Genome Resources
Charcot-Marie-Tooth disease type 4K	SURF1*	Surf1		Alliance of Genome Resources
Charcot-Marie-Tooth disease type 6	MFN2*	Mfn2		Alliance of Genome Resources
Charcot-Marie-Tooth disease X-linked dominant 6	PDK3*	Pdk3		Alliance of Genome Resources
Charcot-Marie-Tooth disease X-linked recessive 4	AIFM1*	Aifm1		Alliance of Genome Resources
Charcot-Marie-Tooth disease X-linked recessive 5	PRPS1*	Prps1		Alliance of Genome Resources
congenital fibrosis of the extraocular muscles 1	KIF21A*	Kif21a		Alliance of Genome Resources
congenital fibrosis of the extraocular muscles 2	PHOX2A*	Phox2a		Alliance of Genome Resources
congenital fibrosis of the extraocular muscles 3A	TUBB3*	Tubb3		Alliance of Genome Resources
congenital fibrosis of the extraocular muscles 5	COL25A1*	Col25a1		Alliance of Genome Resources
congenital muscular dystrophy-dystroglycanopathy A14	GMPPB*	Gmppb		Alliance of Genome Resources
congenital muscular dystrophy-dystroglycanopathy A7	CRPPA*	Crppa		Alliance of Genome Resources
congenital muscular dystrophy-dystroglycanopathy type A1	POMT1*	Pomt1		Alliance of Genome Resources
congenital muscular dystrophy-dystroglycanopathy type A10	RXYLT1*	Rxylt1		Alliance of Genome Resources
congenital muscular dystrophy-dystroglycanopathy type A11	B3GALNT2*	B3galnt2		Alliance of Genome Resources
congenital muscular dystrophy-dystroglycanopathy type A12	POMK*	Pomk		Alliance of Genome Resources
congenital muscular dystrophy-dystroglycanopathy type A13	B4GAT1*	B4gat1		Alliance of Genome Resources
congenital muscular dystrophy-dystroglycanopathy type A2	POMT2*	Pomt2		Alliance of Genome Resources
congenital muscular dystrophy-dystroglycanopathy type A3	POMGNT1*	Pomgnt1		Alliance of Genome Resources
congenital muscular dystrophy-dystroglycanopathy type A5	FKRP*	Fkrp		Alliance of Genome Resources
congenital muscular dystrophy-dystroglycanopathy type A6	LARGE1*	Large1		Alliance of Genome Resources
congenital muscular dystrophy-dystroglycanopathy type A8	POMGNT2*	Pomgnt2		Alliance of Genome Resources
congenital muscular dystrophy-dystroglycanopathy type A9	DAG1*	Dag1		Alliance of Genome Resources
congenital muscular dystrophy with cataracts and intellectual disability	INPP5K*	Inpp5k		Alliance of Genome Resources
congenital myasthenic syndrome	SYT2*	Syt2		Alliance of Genome Resources
congenital myasthenic syndrome	VAMP1*	Vamp1		Alliance of Genome Resources
congenital myasthenic syndrome	SLC25A1*	Slc25a1		Alliance of Genome Resources
congenital myasthenic syndrome	MYO9A*	Myo9a		Alliance of Genome Resources
congenital myasthenic syndrome	CHRNE*	Chrne		Alliance of Genome Resources
congenital myasthenic syndrome 13	DPAGT1*	Dpagt1		Alliance of Genome Resources
congenital myasthenic syndrome 14	ALG2*	Alg2		Alliance of Genome Resources
congenital myasthenic syndrome 15	ALG14*	Alg14		Alliance of Genome Resources
congenital myasthenic syndrome 16	SCN4A*	Scn4a		Alliance of Genome Resources
congenital myasthenic syndrome 17	LRP4*	Lrp4		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 20	SLC5A7*	Slc5a7		Alliance of Genome Resources
congenital myasthenic syndrome 21	SLC18A3*	Slc18a3		Alliance of Genome Resources
congenital myasthenic syndrome 22	PREPL*	Prepl		Alliance of Genome Resources
congenital myasthenic syndrome 2A	CHRNB1*	Chrnb1		Alliance of Genome Resources
congenital myasthenic syndrome 2C	CHRNB1*	Chrnb1		Alliance of Genome Resources
congenital myasthenic syndrome 3B	CHRND*	Chrnd		Alliance of Genome Resources
congenital myasthenic syndrome 3C	CHRND*	Chrnd		Alliance of Genome Resources
congenital myasthenic syndrome 4B	CHRNE*	Chrne		Alliance of Genome Resources
congenital myasthenic syndrome 7	SYT2*	Syt2		Alliance of Genome Resources
congenital nystagmus	ROBO1*	Robo1		Alliance of Genome Resources
congenital nystagmus	MYO7A*	Myo7a		Alliance of Genome Resources
congenital nystagmus	PAX6*	Pax6		Alliance of Genome Resources
congenital nystagmus 6	GPR143*	Gpr143		Alliance of Genome Resources
diabetic neuropathy	GHRL*	Ghrl		Alliance of Genome Resources
diabetic neuropathy	PGF*	Pgf		Alliance of Genome Resources
diabetic neuropathy	IFNG*	Ifng		Alliance of Genome Resources
diabetic neuropathy	VEGFA*	Vegfa		Alliance of Genome Resources
diabetic neuropathy	HGF*	Hgf		Alliance of Genome Resources
diabetic neuropathy	FTO*	Fto		Alliance of Genome Resources
diabetic neuropathy	FGF2*	Fgf2		Alliance of Genome Resources
diabetic neuropathy	EPO*	Epo		Alliance of Genome Resources
diabetic neuropathy	ALDH2*	Aldh2		Alliance of Genome Resources
diabetic neuropathy	AKR1B1*	Akr1b1		Alliance of Genome Resources
diabetic neuropathy	ADRA2B*	Adra2b		Alliance of Genome Resources
diabetic neuropathy	UCP3*	Ucp3		Alliance of Genome Resources
diabetic neuropathy	UCP2*	Ucp2		Alliance of Genome Resources
diabetic neuropathy	TLR4*	Tlr4		Alliance of Genome Resources
distal myopathy	LDB3*	Ldb3		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 4	FLNC*	Flnc		Alliance of Genome Resources
distal myopathy Tateyama type	CAV3*	Cav3		Alliance of Genome Resources
distal myopathy with anterior tibial onset	DYSF*	Dysf		Alliance of Genome Resources
distal myopathy with rimmed vacuoles	SQSTM1*	Sqstm1		Alliance of Genome Resources
Duane retraction syndrome	SALL4*	Sall4		Alliance of Genome Resources
Duchenne muscular dystrophy	ITGA7*	Itga7	1 model	Alliance of Genome Resources
Duchenne muscular dystrophy	DAG1*	Dag1		Alliance of Genome Resources
Emery-Dreifuss muscular dystrophy	EMD*	Emd		Alliance of Genome Resources
erythromelalgia	SCN9A*	Scn9a		Alliance of Genome Resources
facioscapulohumeral muscular dystrophy 2	SMCHD1*	Smchd1		Alliance of Genome Resources
facioscapulohumeral muscular dystrophy 3	LRIF1*	Lrif1		Alliance of Genome Resources
facioscapulohumeral muscular dystrophy 4	DNMT3B*	Dnmt3b		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
giant axonal neuropathy 2	DCAF8*	Dcaf8		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 2A	WNK1*	Wnk1		Alliance of Genome Resources
hereditary sensory and autonomic neuropathy type 2B	RETREG1*	Retreg1		Alliance of Genome Resources
hereditary sensory and autonomic neuropathy type 5	NGF*	Ngf	2 models	Alliance of Genome Resources
hereditary sensory and autonomic neuropathy type 7	SCN11A*	Scn11a		Alliance of Genome Resources
hereditary sensory and autonomic neuropathy type 8	PRDM12*	Prdm12		Alliance of Genome Resources
hereditary sensory neuropathy	WNK1*	Wnk1		Alliance of Genome Resources
hereditary sensory neuropathy	KIF1A*	Kif1a		Alliance of Genome Resources
hereditary sensory neuropathy	DNMT1*	Dnmt1		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 sensory neuropathy type 2C	KIF1A*	Kif1a		Alliance of Genome Resources
hereditary sensory neuropathy type 4	NTRK1*	Ntrk1		Alliance of Genome Resources
Lambert-Eaton myasthenic syndrome	CACNA1B*	Cacna1b		Alliance of Genome Resources
Lambert-Eaton myasthenic syndrome	CHRM1*	Chrm1		Alliance of Genome Resources
Leber hereditary optic neuropathy	ND4*	mt-Nd4		Alliance of Genome Resources
Leber hereditary optic neuropathy	ND4L*	mt-Nd4l		Alliance of Genome Resources
Leber hereditary optic neuropathy	ND5*	mt-Nd5		Alliance of Genome Resources
Leber hereditary optic neuropathy	SOD2*	Sod2		Alliance of Genome Resources
Leber hereditary optic neuropathy	RPGRIP1*	Rpgrip1		Alliance of Genome Resources
Leber hereditary optic neuropathy	RDH12*	Rdh12		Alliance of Genome Resources
Leber hereditary optic neuropathy	TP53*	Trp53		Alliance of Genome Resources
Leber hereditary optic neuropathy	PARL*	Parl		Alliance of Genome Resources
Leber hereditary optic neuropathy	ATP6*	Atp6-ps, mt-Atp6		Alliance of Genome Resources
Leber hereditary optic neuropathy	EPHX1*	Ephx1		Alliance of Genome Resources
Leber hereditary optic neuropathy	ND1*	mt-Nd1		Alliance of Genome Resources
Leber hereditary optic neuropathy	ND2*	mt-Nd2		Alliance of Genome Resources
Leber hereditary optic neuropathy	ND3*	mt-Nd3		Alliance of Genome Resources
limb-girdle muscular dystrophy	FKRP*	Fkrp		Alliance of Genome Resources
Miyoshi muscular dystrophy 1	DYSF*	Dysf		Alliance of Genome Resources
Miyoshi muscular dystrophy 3	ANO5*	Ano5		Alliance of Genome Resources
motor peripheral neuropathy	EGR2*	Egr2		Alliance of Genome Resources
muscular dystrophy	SYNE1*	Syne1		Alliance of Genome Resources
muscular dystrophy	TRIM32*	Trim32		Alliance of Genome Resources
muscular dystrophy	SGCD*	Sgcd		Alliance of Genome Resources
muscular dystrophy	SGCB*	Sgcb		Alliance of Genome Resources
muscular dystrophy	SGCA*	Sgca		Alliance of Genome Resources
muscular dystrophy	POMT2*	Pomt2		Alliance of Genome Resources
muscular dystrophy	POMT1*	Pomt1		Alliance of Genome Resources
muscular dystrophy	POMGNT1*	Pomgnt1		Alliance of Genome Resources
muscular dystrophy	MYOT*	Myot		Alliance of Genome Resources
muscular dystrophy	LAMA2*	Lama2		Alliance of Genome Resources
muscular dystrophy	FKTN*	Fktn		Alliance of Genome Resources
muscular dystrophy	DYSF*	Dysf		Alliance of Genome Resources
muscular dystrophy	COL6A3*	Col6a3		Alliance of Genome Resources
muscular dystrophy	CHKB*	Chkb		Alliance of Genome Resources
muscular dystrophy	CAV3*	Cav3		Alliance of Genome Resources
muscular dystrophy	CAPN3*	Capn3		Alliance of Genome Resources
muscular dystrophy-dystroglycanopathy	GMPPB*	Gmppb		Alliance of Genome Resources
muscular dystrophy-dystroglycanopathy type B14	GMPPB*	Gmppb		Alliance of Genome Resources
muscular dystrophy-dystroglycanopathy type B15	DPM3*	Dpm3		Alliance of Genome Resources
muscular dystrophy-dystroglycanopathy type B2	POMT2*	Pomt2		Alliance of Genome Resources
muscular dystrophy-dystroglycanopathy type B3	POMGNT1*	Pomgnt1		Alliance of Genome Resources
muscular dystrophy-dystroglycanopathy type B4	FKTN*	Fktn		Alliance of Genome Resources
muscular dystrophy-dystroglycanopathy type C12	POMK*	Pomk		Alliance of Genome Resources
muscular dystrophy-dystroglycanopathy type C8	POMGNT2*	Pomgnt2		Alliance of Genome Resources
myotonic dystrophy type 2	CNBP*	Cnbp		Alliance of Genome Resources
neuromuscular disease	GPI*	Gpi1		Alliance of Genome Resources
neuromyelitis optica	HLA-DRB1*, HLA-DRB3, HLA-DRB4, HLA-DRB5	H2-Eb1, H2-Eb2		Alliance of Genome Resources
neuromyelitis optica	HLA-DQB1*, HLA-DQB2	H2-Ab1		Alliance of Genome Resources
neuromyelitis optica	AQP4*	Aqp4		Alliance of Genome Resources
neuropathy	CTSS*	Ctss		Alliance of Genome Resources
non-arteritic anterior ischemic optic neuropathy	ITGB3*	Itgb3		Alliance of Genome Resources
non-arteritic anterior ischemic optic neuropathy	ACE*	Ace		Alliance of Genome Resources
non-arteritic anterior ischemic optic neuropathy	F5*	F5		Alliance of Genome Resources
non-arteritic anterior ischemic optic neuropathy	GP1BA*	Gp1ba		Alliance of Genome Resources
non-arteritic anterior ischemic optic neuropathy	MTHFR*	Mthfr		Alliance of Genome Resources
oculopharyngeal muscular dystrophy	PABPN1*	Pabpn1	1 model	Alliance of Genome Resources
optic atrophy	MCAT*	Mcat		Alliance of Genome Resources
optic atrophy	SSBP1*	Ssbp1		Alliance of Genome Resources
optic atrophy	WFS1*	Wfs1		Alliance of Genome Resources
optic atrophy	MIEF1*	Mief1		Alliance of Genome Resources
optic atrophy	MECR*	Mecr		Alliance of Genome Resources
optic atrophy 1	WFS1*	Wfs1		Alliance of Genome Resources
optic atrophy 1	OPA1*	Opa1		Alliance of Genome Resources
optic atrophy 10	RTN4IP1*	Rtn4ip1		Alliance of Genome Resources
optic atrophy 11	YME1L1*	Yme1l1		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
optic atrophy 7	TMEM126A*	Tmem126a		Alliance of Genome Resources
optic atrophy 9	ACO2*	Aco2		Alliance of Genome Resources
optic nerve disease	EDN1*	Edn1		Alliance of Genome Resources
optic nerve glioma	NF1*	Nf1		Alliance of Genome Resources
optic neuritis	AQP4*	Aqp4		Alliance of Genome Resources
optic neuritis	HLA-DQB1*, HLA-DQB2	H2-Ab1		Alliance of Genome Resources
optic neuritis	HLA-DRB1*, HLA-DRB3, HLA-DRB4, HLA-DRB5	H2-Eb1, H2-Eb2		Alliance of Genome Resources
optic neuritis	MOG*	Mog		Alliance of Genome Resources
optic neuritis	CAT*	Cat		Alliance of Genome Resources
optic neuritis	GSTM1*, GSTM5	Gstm1, Gstm2, Gstm3, Gstm6		Alliance of Genome Resources
optic neuritis	GSTT1*	Gstt1		Alliance of Genome Resources
optic neuritis	SOD2*	Sod2		Alliance of Genome Resources
paramyotonia congenita of Von Eulenburg	SCN4A*	Scn4a		Alliance of Genome Resources
polyneuropathy due to drug	ERCC4*	Ercc4		Alliance of Genome Resources
polyneuropathy due to drug	ERCC6*	Ercc6		Alliance of Genome Resources
sciatic neuropathy	IL1RN*	Il1rn		Alliance of Genome Resources
sciatic neuropathy	LRP1*	Lrp1		Alliance of Genome Resources
sciatic neuropathy	SERPINF1*	Serpinf1		Alliance of Genome Resources
sciatic neuropathy	SOD1*	Sod1		Alliance of Genome Resources
sciatic neuropathy	HGF*	Hgf		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
Walker-Warburg syndrome	FKTN*	Fktn		Alliance of Genome Resources
Walker-Warburg syndrome	POMT1*	Pomt1		Alliance of Genome Resources
Walker-Warburg syndrome	POMT2*	Pomt2		Alliance of Genome Resources
Walker-Warburg syndrome	FKRP*	Fkrp		Alliance of Genome Resources
X-linked deafness 5	AIFM1*	Aifm1		Alliance of Genome Resources
X-linked Emery-Dreifuss muscular dystrophy 1	EMD*	Emd		Alliance of Genome Resources
X-linked Emery-Dreifuss muscular dystrophy 6	FHL1*	Fhl1		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
	autosomal dominant limb-girdle muscular dystrophy type 1	Tg(Ckm-DNAJB6_ib*F93L)#Ccwe	1 model
	Charcot-Marie-Tooth disease axonal type 2F	Tg(Thy1-HSPB1*S135F)#Lvdb	1 model
	Charcot-Marie-Tooth disease type 1A	Tg(PMP22)C22Clh	1 model
	Charcot-Marie-Tooth disease type 1A	Tg(PMP22)C61Clh	1 model
	Charcot-Marie-Tooth disease type 1A	Tg(Pmp22)My41Clh	1 model
	Charcot-Marie-Tooth disease type 1A	Tg(tetO/CMV-Pmp22)JP18Clh	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*S63X)31Mes	2 models
	Charcot-Marie-Tooth disease type 1B	Tg(Mpz)88.2Mfel	1 model
	Charcot-Marie-Tooth disease type 1B	Tg(Mpz)88.1Mfel	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 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)33Mes	1 model
	Charcot-Marie-Tooth disease type 3	Tg(Mpz*S63C)32Mes	1 model
	Charcot-Marie-Tooth disease type 4J	Tg(ACTB-Fig4*I41T)705Mm	1 model
	congenital myasthenic syndrome 3A	Tg(Ckm-Chrnd*S262T)40Cgz	1 model
	congenital myasthenic syndrome 4A	Tg(Ckm-Chrne*L269F)5Cgz	1 model
	Duchenne muscular dystrophy	Tg(ACTA1-Ctss)1Jmol	1 model
	facioscapulohumeral muscular dystrophy	Tg(ACTA1-FRG1)highRotu	1 model
	facioscapulohumeral muscular dystrophy	Tg(ACTA1-FRG1)medRotu	1 model
	hereditary sensory neuropathy	Tg(CAG-SPTLC1*C133W)8EAmcc	1 model
	Leber hereditary optic neuropathy	Tg(LONP1-mt-ND4*,-mCherry*)#Jguy	1 model
	limb-girdle muscular dystrophy	Tg(Ckm-Sgcg)4Mcn	1 model
	myotonic dystrophy type 1	Tg(DMPK/tetO-EGFP/DMPK)5-313Masm	1 model
	myotonic dystrophy type 1	Tg(DMWD,DMPK*,SIX5)328Ggo	1 model
	myotonic dystrophy type 1	Tg(CAG-DMPK*)1323Coop	2 models
	myotonic dystrophy type 1	Tg(DMWD,DMPK*,SIX5)1177Ggo	1 model
	myotonic dystrophy type 1	Tg(DM15)26Bew	1 model
	myotonic dystrophy type 1	Tg(HSA*LR)20aCath	1 model
	myotonic dystrophy type 1	Tg(HSA*LR)20bCath	1 model
	myotonic dystrophy type 1	Tg(HSA*LR)21Cath	1 model
	myotonic dystrophy type 1	Tg(HSA*LR)32aCath	1 model
	myotonic dystrophy type 1	Tg(HSA*LR)32bCath	1 model
	myotonic dystrophy type 1	Tg(HSA*LR)41Cath	1 model
	myotonic dystrophy type 1	Tg(tetO-CUGBP1)3413Coop	1 model
	myotonic dystrophy type 1	Tg(Ckm-CUGBP1)1039Coop	1 model
	neuropathy	Tg(Mpz)80.2Wra	1 model
	oculopharyngeal muscular dystrophy	Tg(ACTA1-PABPN1*A17)1Drub	1 model