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
     alacrima, achalasia, and impaired intellectual development syndrome GMPPA* Gmppa* 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
autosomal dominant congenital deafness with onychodystrophy ATP6V1B2* Atp6v1b2* 2 models Alliance of Genome Resources
autosomal recessive congenital ichthyosis 1 TGM1* Tgm1* 1 model Alliance of Genome Resources
autosomal recessive congenital ichthyosis 10 PNPLA1* Pnpla1* 1 model Alliance of Genome Resources
autosomal recessive congenital ichthyosis 13 SDR9C7* Sdr9c7* 1 model Alliance of Genome Resources
autosomal recessive congenital ichthyosis 4B ABCA12* Abca12* 4 models Alliance of Genome Resources
Bethlem myopathy COL6A1* Col6a1* 1 model Alliance of Genome Resources
buphthalmos CYP1B1* Cyp1b1* 4 models Alliance of Genome Resources
Char syndrome TFAP2B* Tfap2b* 1 model Alliance of Genome Resources
cleft lip IRF6* Irf6* 1 model Alliance of Genome Resources
Compton-North congenital myopathy CNTN1* Cntn1* 3 models Alliance of Genome Resources
congenital adrenal hyperplasia STAR* Star* 1 model Alliance of Genome Resources
congenital adrenal hyperplasia CYP11B1*, CYP11B2 Cyp11b1*, Cyp11b2 1 model Alliance of Genome Resources
congenital afibrinogenemia FGG* Fgg* 1 model Alliance of Genome Resources
congenital bile acid synthesis defect 5 ABCD3* Abcd3* 1 model Alliance of Genome Resources
congenital central hypoventilation syndrome PHOX2B* Phox2b* 2 models Alliance of Genome Resources
congenital diaphragmatic hernia FREM1* Frem1* 1 model Alliance of Genome Resources
congenital diaphragmatic hernia PLS3* Pls3* 2 models Alliance of Genome Resources
congenital diaphragmatic hernia ZFPM2* Zfpm2* 1 model Alliance of Genome Resources
congenital diarrhea 5 with tufting enteropathy EPCAM* Epcam* 1 model Alliance of Genome Resources
congenital disorder of glycosylation type IIa MGAT2* Mgat2* 2 models Alliance of Genome Resources
congenital disorder of glycosylation type IIc SLC35C1* Slc35c1* 1 model Alliance of Genome Resources
congenital generalized lipodystrophy type 1 AGPAT2* Agpat2* 1 model Alliance of Genome Resources
congenital generalized lipodystrophy type 2 BSCL2* Bscl2* 3 models Alliance of Genome Resources
congenital generalized lipodystrophy type 4 CAVIN1* Cavin1* 1 model Alliance of Genome Resources
congenital heart disease NKX2-5* Nkx2-5* 2 models Alliance of Genome Resources
congenital hereditary endothelial dystrophy of cornea SLC4A11* Slc4a11* 1 model Alliance of Genome Resources
congenital hypothyroidism DUOX2* Duox2* 1 model Alliance of Genome Resources
congenital hypothyroidism PAX8* Pax8* 3 models Alliance of Genome Resources
congenital hypothyroidism TPO* Tpo* 1 model Alliance of Genome Resources
congenital megabladder MYOCD* Myocd* 2 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 nonspherocytic hemolytic anemia GPI* Gpi1* 2 models Alliance of Genome Resources
congenital nonspherocytic hemolytic anemia 2 PKLR* Pklr* 2 models Alliance of Genome Resources
congenital nystagmus 1 FRMD7* Frmd7* 2 models Alliance of Genome Resources
congenital secretory chloride diarrhea 1 SLC26A3* Slc26a3* 1 model Alliance of Genome Resources
congenital stationary night blindness 1A NYX* Nyx* 1 model Alliance of Genome Resources
congenital stationary night blindness 1B GRM6* Grm6* 2 models Alliance of Genome Resources
congenital stationary night blindness 1C TRPM1* Trpm1* 2 models Alliance of Genome Resources
congenital stationary night blindness 1D SLC24A1* Slc24a1* 1 model Alliance of Genome Resources
congenital stationary night blindness 1E GPR179* Gpr179* 1 model Alliance of Genome Resources
congenital stationary night blindness 1F LRIT3* Lrit3* 1 model Alliance of Genome Resources
congenital stationary night blindness 2A CACNA1F* Cacna1f* 12 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
congenital stromal corneal dystrophy DCN* Dcn* 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
Fanconi anemia complementation group A FANCA* Fanca* 3 models Alliance of Genome Resources
Fanconi anemia complementation group C FANCC* Fancc* 2 models Alliance of Genome Resources
Fanconi anemia complementation group D1 BRCA2* Brca2* 1 model Alliance of Genome Resources
Fanconi anemia complementation group D2 FANCD2* Fancd2* 6 models Alliance of Genome Resources
Fukuyama congenital muscular dystrophy FKTN* Fktn* 6 models Alliance of Genome Resources
hereditary spherocytosis type 1 ANK1* Ank1* 4 models Alliance of Genome Resources
hereditary spherocytosis type 3 SPTA1* Spta1* 5 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
hypoplastic left heart syndrome NKX2-5* Nkx2-5* 2 models Alliance of Genome Resources
isolated cryptophthalmia FREM2* Frem2* 1 model Alliance of Genome Resources
Leber congenital amaurosis 1 GUCY2D* Gucy2e* 3 models Alliance of Genome Resources
Leber congenital amaurosis 10 CEP290* Cep290* 3 models Alliance of Genome Resources
Leber congenital amaurosis 12 RD3* Rd3* 1 model Alliance of Genome Resources
Leber congenital amaurosis 14 LRAT* Lrat* 1 model Alliance of Genome Resources
Leber congenital amaurosis 19 USP45* Usp45* 1 model Alliance of Genome Resources
Leber congenital amaurosis 2 RPE65* Rpe65* 4 models Alliance of Genome Resources
Leber congenital amaurosis 3 SPATA7* Spata7* 2 models Alliance of Genome Resources
Leber congenital amaurosis 4 AIPL1* Aipl1* 5 models Alliance of Genome Resources
Leber congenital amaurosis 5 LCA5* Lca5* 1 model Alliance of Genome Resources
Leber congenital amaurosis 6 RPGRIP1* Rpgrip1* 3 models Alliance of Genome Resources
Leber congenital amaurosis 7 CRX* Crx* 4 models Alliance of Genome Resources
Leber congenital amaurosis 8 CRB1* Crb1* 3 models Alliance of Genome Resources
Leber congenital amaurosis 9 NMNAT1* Nmnat1* 2 models Alliance of Genome Resources
lissencephaly PAFAH1B1* Pafah1b1* 5 models Alliance of Genome Resources
lissencephaly TUBA1A* Tuba1a* 1 model Alliance of Genome Resources
megaconial type congenital muscular dystrophy CHKB* Chkb* 1 model Alliance of Genome Resources
microcephaly CDK5RAP2* Cdk5rap2* 2 models Alliance of Genome Resources
microcephaly MCPH1* Mcph1* 1 model Alliance of Genome Resources
microvillus inclusion disease MYO5B* Myo5b* 2 models 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
myotonia congenita CLCN1* Clcn1* 4 models Alliance of Genome Resources
neonatal diabetes mellitus with congenital hypothyroidism GLIS3* Glis3* 2 models Alliance of Genome Resources
neural tube defect MTHFR* Mthfr* 1 model Alliance of Genome Resources
neural tube defect MTHFD1L* Mthfd1l* 1 model Alliance of Genome Resources
neural tube defect VANGL2* Vangl2* 4 models Alliance of Genome Resources
Oguchi disease-2 GRK1* Grk1* 1 model Alliance of Genome Resources
parietal foramina ALX4* Alx4* 1 model Alliance of Genome Resources
parietal foramina MSX2* Msx2* 1 model Alliance of Genome Resources
patent ductus arteriosus TFAP2B* Tfap2b* 1 model Alliance of Genome Resources
periventricular nodular heterotopia FLNA* Flna* 1 model Alliance of Genome Resources
primary autosomal recessive microcephaly 2 with or without cortical malformations WDR62* Wdr62* 1 model Alliance of Genome Resources
rigid spine muscular dystrophy 1 SELENON* Selenon* 1 model Alliance of Genome Resources
subcortical band heterotopia EML1* Eml1* 2 models Alliance of Genome Resources
T-cell immunodeficiency, congenital alopecia, and nail dystrophy FOXN1* Foxn1* 4 models Alliance of Genome Resources
tetralogy of Fallot ZFPM2* Zfpm2* 1 model Alliance of Genome Resources
tetralogy of Fallot NKX2-5* Nkx2-5* 2 models Alliance of Genome Resources
tetralogy of Fallot GJA5* Gja5* 2 models Alliance of Genome Resources
visceral heterotaxy ZIC3* Zic3* 6 models Alliance of Genome Resources
visceral heterotaxy MMP21* Mmp21* 2 models Alliance of Genome Resources
visceral heterotaxy CFC1*, CFC1B* Cfc1* 2 models Alliance of Genome Resources
visceral heterotaxy ACVR2B* Acvr2b* 1 model Alliance of Genome Resources
Walker-Warburg syndrome POMGNT1* Pomgnt1* 2 models Alliance of Genome Resources
X-linked cleft palate with or without ankyloglossia TBX22* Tbx22* 2 models Alliance of Genome Resources
     agnathia-otocephaly complex FOXH1 Foxh1* 1 model Alliance of Genome Resources
agnathia-otocephaly complex TRAPPC10 Trappc10* 1 model Alliance of Genome Resources
anencephaly LMO4 Lmo4* 1 model Alliance of Genome Resources
anencephaly EFNA5 Efna5* 1 model Alliance of Genome Resources
anencephaly CECR2 Cecr2* 3 models Alliance of Genome Resources
atrial heart septal defect 1 avc2* 1 model
atrial heart septal defect 1 pta* 1 model
atrial heart septal defect 1 NTF3 Ntf3* 1 model Alliance of Genome Resources
atrial heart septal defect 1 CCN1 Ccn1* 1 model Alliance of Genome Resources
atrioventricular septal defect MKS1 Mks1* 1 model Alliance of Genome Resources
atrioventricular septal defect pta* 1 model
atrioventricular septal defect NR1D2 Nr1d2* 1 model Alliance of Genome Resources
atrioventricular septal defect avc3* 1 model
atrioventricular septal defect BMP4 Bmp4* 2 models Alliance of Genome Resources
atrioventricular septal defect CCN1 Ccn1* 1 model Alliance of Genome Resources
atrioventricular septal defect DNAH11 Dnah11* 1 model Alliance of Genome Resources
atrioventricular septal defect GLYR1 Glyr1* 2 models Alliance of Genome Resources
atrioventricular septal defect IFT172 Ift172* 1 model Alliance of Genome Resources
atrioventricular septal defect l11Jus16* 1 model
autosomal recessive congenital ichthyosis 4B CST6 Cst6* 1 model Alliance of Genome Resources
autosomal recessive congenital ichthyosis 4B PRSS8 Prss8* 1 model Alliance of Genome Resources
autosomal recessive congenital ichthyosis 4B PIGA Piga* 2 models Alliance of Genome Resources
bladder exstrophy TP63 Trp63* 1 model Alliance of Genome Resources
buphthalmos FOXC1 Foxc1* 2 models Alliance of Genome Resources
buphthalmos TYR Tyr* 3 models Alliance of Genome Resources
centronuclear myopathy DNM2 Dnm2* 1 model Alliance of Genome Resources
centronuclear myopathy PLN Pln* 1 model Alliance of Genome Resources
centronuclear myopathy MTM1 Mtm1* 1 model Alliance of Genome Resources
centronuclear myopathy KLHL31 Klhl31* 1 model Alliance of Genome Resources
chromosome 1q41-q42 deletion syndrome TP53BP2 Trp53bp2* 3 models Alliance of Genome Resources
cleft palate b2b1470Clo* 1 model
cleft palate b2b1594Clo* 1 model
cleft palate CDC42 Cdc42* 1 model Alliance of Genome Resources
cleft palate GOLGB1 Golgb1* 5 models Alliance of Genome Resources
cleft palate PRMT1 Prmt1* 1 model Alliance of Genome Resources
cleft palate SIX2 Six2* 1 model Alliance of Genome Resources
cleft palate SPECC1L Specc1l* 2 models Alliance of Genome Resources
cleft palate-lateral synechia syndrome BMP4 Bmp4* 1 model Alliance of Genome Resources
cleft soft palate TGFBR2 Tgfbr2* 1 model Alliance of Genome Resources
congenital amegakaryocytic thrombocytopenia MPL Mpl* 1 model Alliance of Genome Resources
congenital aphakia FOXE3 Foxe3* 1 model Alliance of Genome Resources
congenital central hypoventilation syndrome TLX3 Tlx3* 1 model Alliance of Genome Resources
congenital chylothorax ITGA9 Itga9* 1 model Alliance of Genome Resources
congenital chylothorax ELK3 Elk3* 1 model Alliance of Genome Resources
congenital diaphragmatic hernia NR2F2 Nr2f2* 1 model Alliance of Genome Resources
congenital diaphragmatic hernia b2b1528Clo* 1 model
congenital diaphragmatic hernia GATA4 Gata4* 2 models Alliance of Genome Resources
congenital diaphragmatic hernia hpld* 1 model
congenital diaphragmatic hernia KIF7 Kif7* 1 model Alliance of Genome Resources
congenital diaphragmatic hernia WT1 Wt1* 2 models Alliance of Genome Resources
congenital diaphragmatic hernia SOX7 Sox7* 1 model Alliance of Genome Resources
congenital diaphragmatic hernia LRP1 Lrp1* 1 model Alliance of Genome Resources
congenital diaphragmatic hernia SLIT3 Slit3* 4 models Alliance of Genome Resources
congenital diaphragmatic hernia PDGFRA Pdgfra* 1 model Alliance of Genome Resources
congenital diaphragmatic hernia NDST1 Ndst1* 1 model Alliance of Genome Resources
congenital disorder of glycosylation OGT Ogt* 1 model Alliance of Genome Resources
congenital disorder of glycosylation type I PMM2 Pmm2* 1 model Alliance of Genome Resources
congenital dyserythropoietic anemia MAN2A1 Man2a1* 1 model Alliance of Genome Resources
congenital dyserythropoietic anemia DIAPH3 Diaph3* 1 model Alliance of Genome Resources
congenital fibrosis of the extraocular muscles TUBB3 Tubb3* 1 model Alliance of Genome Resources
congenital fibrosis of the extraocular muscles KIF21A Kif21a* 3 models Alliance of Genome Resources
congenital generalized lipodystrophy type 2 PPARG Pparg* 2 models Alliance of Genome Resources
congenital heart disease SAP130 Sap130* 2 models Alliance of Genome Resources
congenital heart disease RXRA Rxra* 1 model Alliance of Genome Resources
congenital heart disease FOXJ1 Foxj1* 1 model Alliance of Genome Resources
congenital heart disease b2b1639Clo* 1 model
congenital heart disease b2b913Clo* 1 model
congenital heart disease b2b520Clo* 1 model
congenital heart disease b2b243Clo* 1 model
congenital heart disease b2b243.1Clo* 1 model
congenital hypothyroidism FOXE1 Foxe1* 1 model Alliance of Genome Resources
congenital hypothyroidism RUNX2 Runx2* 1 model Alliance of Genome Resources
congenital hypothyroidism SLC26A7 Slc26a7* 1 model Alliance of Genome Resources
congenital hypothyroidism TG Tg* 1 model Alliance of Genome Resources
congenital hypothyroidism TRHR Trhr* 1 model Alliance of Genome Resources
congenital hypothyroidism TSHR Tshr* 4 models Alliance of Genome Resources
congenital muscular dystrophy COL6A3 Col6a3* 1 model Alliance of Genome Resources
congenital nervous system abnormality EML1 Eml1* 3 models Alliance of Genome Resources
congenital nervous system abnormality TUBA1A Tuba1a* 3 models Alliance of Genome Resources
congenital nystagmus AHR Ahr* 1 model Alliance of Genome Resources
dextro-looped transposition of the great arteries HSPG2 Hspg2* 1 model Alliance of Genome Resources
dextro-looped transposition of the great arteries DVL2 Dvl2* 1 model Alliance of Genome Resources
dextro-looped transposition of the great arteries CFC1, CFC1B Cfc1* 1 model Alliance of Genome Resources
Diamond-Blackfan anemia RPSA Rpsa* 1 model Alliance of Genome Resources
Diamond-Blackfan anemia FLVCR1 Flvcr1* 2 models Alliance of Genome Resources
double outlet right ventricle ECE1 Ece1* 2 models Alliance of Genome Resources
double outlet right ventricle CFC1, CFC1B Cfc1* 1 model Alliance of Genome Resources
Fanconi anemia USP1 Usp1* 1 model Alliance of Genome Resources
gastroschisis LRP1 Lrp1* 1 model Alliance of Genome Resources
hereditary spherocytosis KLF1 Klf1* 1 model Alliance of Genome Resources
hereditary spherocytosis type 1 ADD2 Add2* 1 model Alliance of Genome Resources
hereditary spherocytosis type 1 EPB42 Epb42* 1 model Alliance of Genome Resources
hereditary spherocytosis type 1 SPTA1 Spta1* 3 models Alliance of Genome Resources
hereditary spherocytosis type 4 SLC4A1 Slc4a1* 1 model Alliance of Genome Resources
holoprosencephaly PIGN Pign* 1 model Alliance of Genome Resources
holoprosencephaly PGAP1 Pgap1* 1 model Alliance of Genome Resources
holoprosencephaly NOSIP Nosip* 1 model Alliance of Genome Resources
hypoplastic left heart syndrome b2b1709Clo* 1 model
hypoplastic left heart syndrome SAP130 Sap130* 2 models Alliance of Genome Resources
hypoplastic left heart syndrome b2b3183Clo* 1 model
hypoplastic left heart syndrome b2b3077Clo* 1 model
hypoplastic left heart syndrome b2b1963Clo* 1 model
hypoplastic left heart syndrome b2b464Clo* 1 model
hypoplastic left heart syndrome b2b635Clo* 1 model
hypoplastic left heart syndrome b2b3077.2Clo* 1 model
hypoplastic left heart syndrome b2b1430Clo* 1 model
hypoplastic left heart syndrome b2b1432Clo* 1 model
isolated cleft palate SATB2 Satb2* 1 model Alliance of Genome Resources
Leber congenital amaurosis CCT2 Cct2* 1 model Alliance of Genome Resources
Leber congenital amaurosis PALS1 Pals1* 1 model Alliance of Genome Resources
lissencephaly DCX Dcx* 1 model Alliance of Genome Resources
lissencephaly DAG1 Dag1* 2 models Alliance of Genome Resources
lissencephaly ARX Arx* 2 models Alliance of Genome Resources
microcephaly TUBB Tubb5* 2 models Alliance of Genome Resources
microcephaly PPIL1 Ppil1* 2 models Alliance of Genome Resources
microcephaly KIF20B Kif20b* 1 model Alliance of Genome Resources
microcephaly COPB2 Copb2* 1 model Alliance of Genome Resources
microcephaly ASPM Aspm* 3 models Alliance of Genome Resources
microvillus inclusion disease CDC42 Cdc42* 1 model Alliance of Genome Resources
muscular dystrophy-dystroglycanopathy type B1 B4GAT1 B4gat1* 1 model 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 FKTN Fktn* 3 models Alliance of Genome Resources
muscular dystrophy-dystroglycanopathy type B1 FKRP Fkrp* 2 models Alliance of Genome Resources
neural tube defect LRP6 Lrp6* 1 model Alliance of Genome Resources
neural tube defect PAX3 Pax3* 1 model Alliance of Genome Resources
neurogenic-type arthrogryposis multiplex congenita-2 pma* 1 model
omphalocele LRP1 Lrp1* 1 model Alliance of Genome Resources
orofacial cleft TFAP2A Tfap2a* 1 model Alliance of Genome Resources
orofacial cleft MSX1 Msx1* 1 model Alliance of Genome Resources
patent ductus arteriosus MYOCD Myocd* 2 models Alliance of Genome Resources
physical disorder BMP4 Bmp4* 1 model Alliance of Genome Resources
polydactyly CIBAR1 Cibar1* 1 model Alliance of Genome Resources
right atrial isomerism ACVR2B Acvr2b* 1 model Alliance of Genome Resources
right atrial isomerism CFC1, CFC1B Cfc1* 2 models Alliance of Genome Resources
scimitar syndrome PDGFRA Pdgfra* 1 model Alliance of Genome Resources
scimitar syndrome IFT88 Ift88* 1 model Alliance of Genome Resources
severe congenital neutropenia GFI1 Gfi1* 1 model Alliance of Genome Resources
spina bifida FKBP8 Fkbp8* 1 model Alliance of Genome Resources
tetralogy of Fallot PHC1 Phc1* 1 model Alliance of Genome Resources
tetralogy of Fallot BMP10 Bmp10* 1 model Alliance of Genome Resources
tetralogy of Fallot CITED2 Cited2* 1 model Alliance of Genome Resources
tetralogy of Fallot DNAH5 Dnah5* 1 model Alliance of Genome Resources
tetralogy of Fallot DOCK1 Dock1* 1 model Alliance of Genome Resources
tetralogy of Fallot FGF8 Fgf8* 1 model Alliance of Genome Resources
tetralogy of Fallot HEY2 Hey2* 1 model Alliance of Genome Resources
tetralogy of Fallot INVS Invs* 1 model Alliance of Genome Resources
tetralogy of Fallot MKS1 Mks1* 2 models Alliance of Genome Resources
tetralogy of Fallot NTF3 Ntf3* 1 model 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
visceral heterotaxy TBC1D32 Tbc1d32* 1 model Alliance of Genome Resources
visceral heterotaxy b2b386Clo* 1 model
visceral heterotaxy b2b386.1Clo* 1 model
visceral heterotaxy b2b227Clo* 1 model
visceral heterotaxy AP1B1 Ap1b1* 1 model Alliance of Genome Resources
visceral heterotaxy ANKS6 Anks6* 1 model Alliance of Genome Resources
visceral heterotaxy b2b2736Clo* 1 model
visceral heterotaxy b2b2696Clo* 1 model
visceral heterotaxy b2b2696.1Clo* 1 model
visceral heterotaxy b2b2350Clo* 1 model
visceral heterotaxy C2orf74 1700093K21Rik* 1 model Alliance of Genome Resources
visceral heterotaxy CC2D2A Cc2d2a* 1 model Alliance of Genome Resources
visceral heterotaxy CCDC39 Ccdc39* 3 models Alliance of Genome Resources
visceral heterotaxy CEP290 Cep290* 2 models Alliance of Genome Resources
visceral heterotaxy CPLANE2 Cplane2* 1 model Alliance of Genome Resources
visceral heterotaxy DAW1 Daw1* 2 models Alliance of Genome Resources
visceral heterotaxy DNAAF3 Dnaaf3* 1 model Alliance of Genome Resources
visceral heterotaxy DNAH5 Dnah5* 9 models Alliance of Genome Resources
visceral heterotaxy DNAH11 Dnah11* 7 models Alliance of Genome Resources
visceral heterotaxy DNAI1 Dnai1* 1 model Alliance of Genome Resources
visceral heterotaxy b2b2140Clo* 1 model
visceral heterotaxy b2b2025Clo* 1 model
visceral heterotaxy b2b1801Clo* 1 model
visceral heterotaxy b2b1700Clo* 1 model
visceral heterotaxy b2b1519Clo* 1 model
visceral heterotaxy b2b1456Clo* 1 model
visceral heterotaxy b2b1436Clo* 1 model
visceral heterotaxy DRC1 Drc1* 1 model Alliance of Genome Resources
visceral heterotaxy b2b1291Clo* 1 model
visceral heterotaxy FOXH1 Foxh1* 1 model Alliance of Genome Resources
visceral heterotaxy C1orf127 Gm572* 1 model Alliance of Genome Resources
visceral heterotaxy IFT74 Ift74* 1 model Alliance of Genome Resources
visceral heterotaxy MEGF8 Megf8* 2 models Alliance of Genome Resources
visceral heterotaxy b2b1200Clo* 1 model
visceral heterotaxy b2b1163Clo* 1 model
visceral heterotaxy b2b1146Clo* 1 model
visceral heterotaxy b2b997Clo* 1 model
visceral heterotaxy ODAD2 Odad2* 2 models Alliance of Genome Resources
visceral heterotaxy PCSK5 Pcsk5* 1 model Alliance of Genome Resources
visceral heterotaxy PSME4 Psme4* 1 model Alliance of Genome Resources
visceral heterotaxy RFX3 Rfx3* 1 model Alliance of Genome Resources
visceral heterotaxy b2b942Clo* 1 model
visceral heterotaxy SLIT2 Slit2* 1 model Alliance of Genome Resources
visceral heterotaxy BICC1 Bicc1* 1 model Alliance of Genome Resources
visceral heterotaxy TMEM67 Tmem67* 2 models Alliance of Genome Resources
Walker-Warburg syndrome COL4A1 Col4a1* 1 model Alliance of Genome Resources
     agnathia-otocephaly complex PRRX1* Prrx1   Alliance of Genome Resources
anencephaly TRIM36* Trim36   Alliance of Genome Resources
anencephaly MTRR* Mtrr   Alliance of Genome Resources
anencephaly NUAK2* Nuak2   Alliance of Genome Resources
anencephaly RPGRIP1L* Rpgrip1l   Alliance of Genome Resources
arthrogryposis multiplex congenita SYNE1* Syne1   Alliance of Genome Resources
arthrogryposis multiplex congenita TNNI2* Tnni2   Alliance of Genome Resources
arthrogryposis multiplex congenita VPS33B* Vps33b   Alliance of Genome Resources
arthrogryposis multiplex congenita MYH8* Myh8   Alliance of Genome Resources
arthrogryposis multiplex congenita-1 LGI4* Lgi4   Alliance of Genome Resources
arthrogryposis multiplex congenita-3 SYNE1* Syne1   Alliance of Genome Resources
arthrogryposis multiplex congenita-4 SCYL2* Scyl2   Alliance of Genome Resources
arthrogryposis multiplex congenita-5 TOR1A* Tor1a   Alliance of Genome Resources
arthrogryposis multiplex congenita-6 NEB* Neb   Alliance of Genome Resources
atrial heart septal defect NKX2-5* Nkx2-5   Alliance of Genome Resources
atrial heart septal defect GATA4* Gata4   Alliance of Genome Resources
atrial heart septal defect ISL1* Isl1   Alliance of Genome Resources
atrial heart septal defect BMP4* Bmp4   Alliance of Genome Resources
atrial heart septal defect TBX20* Tbx20   Alliance of Genome Resources
atrial heart septal defect SOS1* Sos1   Alliance of Genome Resources
atrial heart septal defect MYH6* Myh6   Alliance of Genome Resources
atrial heart septal defect TBX2* Tbx2   Alliance of Genome Resources
atrial heart septal defect 3 MYH6* Myh6   Alliance of Genome Resources
atrial heart septal defect 4 TBX20* Tbx20   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
atrioventricular septal defect GATA4* Gata4 1 model Alliance of Genome Resources
atrioventricular septal defect CRELD1* Creld1   Alliance of Genome Resources
atrioventricular septal defect GATA6* Gata6   Alliance of Genome Resources
autosomal recessive congenital bilateral absence of vas deferens CFTR* Cftr   Alliance of Genome Resources
autosomal recessive congenital ichthyosis CASP14* Casp14   Alliance of Genome Resources
autosomal recessive congenital ichthyosis ERCC2* Ercc2   Alliance of Genome Resources
autosomal recessive congenital ichthyosis 1 ABCA12* Abca12   Alliance of Genome Resources
autosomal recessive congenital ichthyosis 1 ABHD5* Abhd5   Alliance of Genome Resources
autosomal recessive congenital ichthyosis 1 ALOXE3* Aloxe3   Alliance of Genome Resources
autosomal recessive congenital ichthyosis 11 ST14* St14   Alliance of Genome Resources
autosomal recessive congenital ichthyosis 14 SULT2B1* Sult2b1   Alliance of Genome Resources
autosomal recessive congenital ichthyosis 2 ALOX12B* Alox12b   Alliance of Genome Resources
autosomal recessive congenital ichthyosis 3 ALOXE3* Aloxe3   Alliance of Genome Resources
autosomal recessive congenital ichthyosis 4A ABCA12* Abca12   Alliance of Genome Resources
autosomal recessive congenital ichthyosis 5 CYP4F22* Cyp4f39   Alliance of Genome Resources
autosomal recessive congenital ichthyosis 6 NIPAL4* Nipal4   Alliance of Genome Resources
autosomal recessive congenital ichthyosis 8 LIPN* Lipn   Alliance of Genome Resources
autosomal recessive congenital ichthyosis 9 CERS3* Cers3   Alliance of Genome Resources
autosomal recessive congenital nystagmus ROBO1* Robo1   Alliance of Genome Resources
Becker disease CLCN1* Clcn1   Alliance of Genome Resources
Bethlem myopathy COL12A1* Col12a1   Alliance of Genome Resources
Bethlem myopathy COL6A3* Col6a3   Alliance of Genome Resources
Bethlem myopathy COL6A2* Col6a2   Alliance of Genome Resources
bladder exstrophy-epispadias-cloacal exstrophy complex TP63* Trp63   Alliance of Genome Resources
caudal regression syndrome VANGL1* Vangl1   Alliance of Genome Resources
centronuclear myopathy 1 DNM2* Dnm2   Alliance of Genome Resources
centronuclear myopathy 1 MTMR14* Mtmr14   Alliance of Genome Resources
centronuclear myopathy 2 BIN1* Bin1   Alliance of Genome Resources
centronuclear myopathy 4 CCDC78* Ccdc78   Alliance of Genome Resources
centronuclear myopathy 5 SPEG* Speg   Alliance of Genome Resources
centronuclear myopathy 6 with fiber-type disproportion MAP3K20* Map3k20   Alliance of Genome Resources
cleft lip POMT1* Pomt1   Alliance of Genome Resources
cleft lip SLC19A1* Slc19a1   Alliance of Genome Resources
cleft lip SDC2* Sdc2   Alliance of Genome Resources
cleft lip NOG* Nog   Alliance of Genome Resources
cleft lip NECTIN1* Nectin1   Alliance of Genome Resources
cleft lip MTHFR* Mthfr   Alliance of Genome Resources
cleft lip MTHFD1* Mthfd1   Alliance of Genome Resources
cleft lip MSX1* Msx1   Alliance of Genome Resources
cleft lip KIF7* Kif7   Alliance of Genome Resources
cleft lip GDF6* Gdf6   Alliance of Genome Resources
cleft lip FGFR1* Fgfr1   Alliance of Genome Resources
cleft lip FGF1* Fgf1   Alliance of Genome Resources
cleft lip CDH1* Cdh1   Alliance of Genome Resources
cleft lip BMP4* Bmp4   Alliance of Genome Resources
cleft palate COL11A2* Col11a2   Alliance of Genome Resources
cleft palate TBX22* Tbx22   Alliance of Genome Resources
cleft palate SDC2* Sdc2   Alliance of Genome Resources
cleft palate ROR2* Ror2   Alliance of Genome Resources
cleft palate NECTIN1* Nectin1   Alliance of Genome Resources
cleft palate MTHFD1* Mthfd1   Alliance of Genome Resources
cleft palate MSX1* Msx1   Alliance of Genome Resources
cleft palate MEIS2* Meis2   Alliance of Genome Resources
cleft palate IRF6* Irf6   Alliance of Genome Resources
cleft palate GDF6* Gdf6   Alliance of Genome Resources
cleft palate FLNB* Flnb   Alliance of Genome Resources
cleft palate COL2A1* Col2a1   Alliance of Genome Resources
congenital adrenal hyperplasia CYP21A2*, CYP21A1P Cyp21a1   Alliance of Genome Resources
congenital adrenal hyperplasia CYP17A1* Cyp17a1   Alliance of Genome Resources
congenital adrenal hyperplasia POR* Por   Alliance of Genome Resources
congenital adrenal hyperplasia CYP11A1* Cyp11a1   Alliance of Genome Resources
congenital adrenal insufficiency CYP11A1* Cyp11a1   Alliance of Genome Resources
congenital afibrinogenemia FGA* Fga   Alliance of Genome Resources
congenital afibrinogenemia FGB* Fgb   Alliance of Genome Resources
congenital amegakaryocytic thrombocytopenia 2 THPO* Thpo   Alliance of Genome Resources
congenital bilateral absence of vas deferens CFTR* Cftr   Alliance of Genome Resources
congenital bile acid synthesis defect 1 HSD3B7* Hsd3b7   Alliance of Genome Resources
congenital bile acid synthesis defect 2 AKR1D1* Akr1d1   Alliance of Genome Resources
congenital bile acid synthesis defect 3 CYP7B1* Cyp7b1   Alliance of Genome Resources
congenital bile acid synthesis defect 4 AMACR* Amacr   Alliance of Genome Resources
congenital bile acid synthesis defect 6 ACOX2* Acox2   Alliance of Genome Resources
congenital central hypoventilation syndrome MYO1H* Myo1h   Alliance of Genome Resources
congenital central hypoventilation syndrome BDNF* Bdnf   Alliance of Genome Resources
congenital central hypoventilation syndrome LBX1* Lbx1   Alliance of Genome Resources
congenital contractural arachnodactyly FBN2* Fbn2   Alliance of Genome Resources
congenital diaphragmatic hernia MYRF* Myrf   Alliance of Genome Resources
congenital diaphragmatic hernia ALDH1A2* Aldh1a2   Alliance of Genome Resources
congenital diarrhea WNT2B* Wnt2b   Alliance of Genome Resources
congenital diarrhea ACSL5* Acsl5   Alliance of Genome Resources
congenital diarrhea PERCC1* Percc1   Alliance of Genome Resources
congenital diarrhea PLVAP* Plvap   Alliance of Genome Resources
congenital diarrhea STX3* Stx3   Alliance of Genome Resources
congenital diarrhea 6 GUCY2C* Gucy2c   Alliance of Genome Resources
congenital diarrhea 7 with exudative enteropathy DGAT1* Dgat1   Alliance of Genome Resources
congenital disorder of glycosylation PMM2* Pmm2   Alliance of Genome Resources
congenital disorder of glycosylation B4GALT1* B4galt1   Alliance of Genome Resources
congenital disorder of glycosylation Ia PMM2* Pmm2   Alliance of Genome Resources
congenital disorder of glycosylation Iaa NUS1* Nus1   Alliance of Genome Resources
congenital disorder of glycosylation Ib MPI* Mpi   Alliance of Genome Resources
congenital disorder of glycosylation Ic ALG6* Alg6   Alliance of Genome Resources
congenital disorder of glycosylation Icc MAGT1* Magt1   Alliance of Genome Resources
congenital disorder of glycosylation Id ALG3* Alg3   Alliance of Genome Resources
congenital disorder of glycosylation Ie DPM1* Dpm1   Alliance of Genome Resources
congenital disorder of glycosylation If MPDU1* Mpdu1   Alliance of Genome Resources
congenital disorder of glycosylation Ig ALG12* Alg12   Alliance of Genome Resources
congenital disorder of glycosylation Ih ALG8* Alg8   Alliance of Genome Resources
congenital disorder of glycosylation Ii ALG2* Alg2   Alliance of Genome Resources
congenital disorder of glycosylation Ij DPAGT1* Dpagt1   Alliance of Genome Resources
congenital disorder of glycosylation Ik ALG1*, ALG1L1P, ALG1L2 Alg1   Alliance of Genome Resources
congenital disorder of glycosylation Il ALG9* Alg9   Alliance of Genome Resources
congenital disorder of glycosylation Im DOLK* Dolk   Alliance of Genome Resources
congenital disorder of glycosylation In RFT1* Rft1   Alliance of Genome Resources
congenital disorder of glycosylation Ip ALG11* Alg11   Alliance of Genome Resources
congenital disorder of glycosylation Iq SRD5A3* Srd5a3   Alliance of Genome Resources
congenital disorder of glycosylation Ir DDOST* Ddost   Alliance of Genome Resources
congenital disorder of glycosylation It PGM1* Pgm1   Alliance of Genome Resources
congenital disorder of glycosylation Iu DPM2* Dpm2   Alliance of Genome Resources
congenital disorder of glycosylation Iw STT3A* Stt3a   Alliance of Genome Resources
congenital disorder of glycosylation Ix STT3B* Stt3b   Alliance of Genome Resources
congenital disorder of glycosylation Iy SSR4* Ssr4   Alliance of Genome Resources
congenital disorder of glycosylation type I DPM3* Dpm3   Alliance of Genome Resources
congenital disorder of glycosylation type II GALNT2* Galnt2   Alliance of Genome Resources
congenital disorder of glycosylation type II ATP6AP2* Atp6ap2   Alliance of Genome Resources
congenital disorder of glycosylation type II EDEM3* Edem3   Alliance of Genome Resources
congenital disorder of glycosylation type II CAMLG* Caml   Alliance of Genome Resources
congenital disorder of glycosylation type II STX5* Stx5a   Alliance of Genome Resources
congenital disorder of glycosylation type II COG3* Cog3   Alliance of Genome Resources
congenital disorder of glycosylation type II SLC37A4* Slc37a4   Alliance of Genome Resources
congenital disorder of glycosylation type II GET4* Get4   Alliance of Genome Resources
congenital disorder of glycosylation type IIb MOGS* Mogs   Alliance of Genome Resources
congenital disorder of glycosylation type IId B4GALT1* B4galt1   Alliance of Genome Resources
congenital disorder of glycosylation type IIe COG7* Cog7   Alliance of Genome Resources
congenital disorder of glycosylation type IIf SLC35A1* Slc35a1   Alliance of Genome Resources
congenital disorder of glycosylation type IIg COG1* Cog1   Alliance of Genome Resources
congenital disorder of glycosylation type IIh COG8* Cog8   Alliance of Genome Resources
congenital disorder of glycosylation type IIi COG5* Cog5   Alliance of Genome Resources
congenital disorder of glycosylation type IIj COG4* Cog4   Alliance of Genome Resources
congenital disorder of glycosylation type IIk TMEM165* Tmem165   Alliance of Genome Resources
congenital disorder of glycosylation type IIl COG6* Cog6   Alliance of Genome Resources
congenital disorder of glycosylation type IIm SLC35A2* Slc35a2   Alliance of Genome Resources
congenital disorder of glycosylation type IIn SLC39A8* Slc39a8   Alliance of Genome Resources
congenital disorder of glycosylation type IIo CCDC115* Ccdc115   Alliance of Genome Resources
congenital disorder of glycosylation type IIp TMEM199* Tmem199   Alliance of Genome Resources
congenital disorder of glycosylation type IIq COG2* Cog2   Alliance of Genome Resources
congenital dyserythropoietic anemia RACGAP1* Racgap1   Alliance of Genome Resources
congenital dyserythropoietic anemia CDAN1* Cdan1   Alliance of Genome Resources
congenital dyserythropoietic anemia type Ia CDAN1* Cdan1   Alliance of Genome Resources
congenital dyserythropoietic anemia type Ib CDIN1* Cdin1   Alliance of Genome Resources
congenital dyserythropoietic anemia type II SEC23B* Sec23b   Alliance of Genome Resources
congenital dyserythropoietic anemia type IIIa KIF23* Kif23 2 "NOT" models Alliance of Genome Resources
congenital dyserythropoietic anemia type IVa 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 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 generalized lipodystrophy PCYT1A* Pcyt1a   Alliance of Genome Resources
congenital generalized lipodystrophy type 3 CAV1* Cav1   Alliance of Genome Resources
congenital heart defects, hamartomas of tongue, and polysyndactyly WDPCP* Wdpcp   Alliance of Genome Resources
congenital heart disease MKKS* Mkks   Alliance of Genome Resources
congenital heart disease MYH7* Myh7   Alliance of Genome Resources
congenital heart disease GSTP1* Gstp1, Gstp2, Gstp3, Gstp-ps   Alliance of Genome Resources
congenital heart disease NFATC1* Nfatc1   Alliance of Genome Resources
congenital heart disease NOTCH1* Notch1   Alliance of Genome Resources
congenital heart disease NPHP4* Nphp4   Alliance of Genome Resources
congenital heart disease PRKD1* Prkd1   Alliance of Genome Resources
congenital heart disease RBFOX2* Rbfox2   Alliance of Genome Resources
congenital heart disease RFC1* Rfc1   Alliance of Genome Resources
congenital heart disease RNF41* Rnf41   Alliance of Genome Resources
congenital heart disease SP4* Sp4   Alliance of Genome Resources
congenital heart disease TAB2* Tab2   Alliance of Genome Resources
congenital heart disease TBX1* Tbx1   Alliance of Genome Resources
congenital heart disease TBX20* Tbx20   Alliance of Genome Resources
congenital heart disease TLL1* Tll1   Alliance of Genome Resources
congenital heart disease VEGFA* Vegfa   Alliance of Genome Resources
congenital heart disease GSTM1*, GSTM5 Gstm1, Gstm2, Gstm3, Gstm6   Alliance of Genome Resources
congenital heart disease GPX3* Gpx3   Alliance of Genome Resources
congenital heart disease GDF1* Gdf1   Alliance of Genome Resources
congenital heart disease GATA6* Gata6   Alliance of Genome Resources
congenital heart disease GATA4* Gata4   Alliance of Genome Resources
congenital heart disease ADAMTS19* Adamts19   Alliance of Genome Resources
congenital heart disease IRX1* Irx1   Alliance of Genome Resources
congenital heart disease JAG1* Jag1   Alliance of Genome Resources
congenital heart disease LEFTY2* Lefty2   Alliance of Genome Resources
congenital heart disease BHMT2* Bhmt2   Alliance of Genome Resources
congenital heart disease GSTT1* Gstt1   Alliance of Genome Resources
congenital heart disease ISL1* Isl1   Alliance of Genome Resources
congenital heart disease FOXP1* Foxp1   Alliance of Genome Resources
congenital heart disease CRIPTO*, CRIPTO3 Cripto   Alliance of Genome Resources
congenital hemolytic anemia GPI* Gpi1   Alliance of Genome Resources
congenital hemolytic anemia HBB*, HBD Hbb-b1, Hbb-b2, Hbb-bh2, Hbb-bs, Hbb-bt   Alliance of Genome Resources
congenital hemolytic anemia SLC4A1* Slc4a1   Alliance of Genome Resources
congenital hypothyroidism SLC5A5* Slc5a5   Alliance of Genome Resources
congenital hypotrichosis with juvenile macular dystrophy CDH3* Cdh3   Alliance of Genome Resources
congenital intrinsic factor deficiency CBLIF* Cblif   Alliance of Genome Resources
congenital lactase deficiency LCT* Lct   Alliance of Genome Resources
congenital leptin deficiency LEP* Lep   Alliance of Genome Resources
congenital malabsorptive diarrhea 4 NEUROG3* Neurog3   Alliance of Genome Resources
congenital mirror movement disorder NTN1* Ntn1   Alliance of Genome Resources
congenital mirror movement disorder RAD51* Rad51   Alliance of Genome Resources
congenital mirror movement disorder DNAL4* Dnal4   Alliance of Genome Resources
congenital mirror movement disorder DCC* Dcc   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 CHRNE* Chrne   Alliance of Genome Resources
congenital myasthenic syndrome VAMP1* Vamp1   Alliance of Genome Resources
congenital myasthenic syndrome SYT2* Syt2   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 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 CHRNA1* Chrna1   Alliance of Genome Resources
congenital myasthenic syndrome 1A CAST* Cast   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 myopathy 4A TPM3* Tpm3   Alliance of Genome Resources
congenital nongoitrous hypothyroidism 2 PAX8* Pax8   Alliance of Genome Resources
congenital nongoitrous hypothyroidism 4 TSHB* Tshb   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 7 TRHR* Trhr   Alliance of Genome Resources
congenital nongoitrous hypothyroidism 8 TBL1X*, TBL1Y Tbl1x   Alliance of Genome Resources
congenital nongoitrous hypothyroidism 9 IRS4* Irs4   Alliance of Genome Resources
congenital nonspherocytic hemolytic anemia G6PD* G6pd2, G6pdx   Alliance of Genome Resources
congenital nonspherocytic hemolytic anemia HK1* Hk1   Alliance of Genome Resources
congenital nonspherocytic hemolytic anemia PKLR* Pklr   Alliance of Genome Resources
congenital nonspherocytic hemolytic anemia AK1* Ak1   Alliance of Genome Resources
congenital nonspherocytic hemolytic anemia 7 GCLC* Gclc   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
congenital secretory sodium diarrhea 3 SPINT2* Spint2 1 model Alliance of Genome Resources
congenital secretory sodium diarrhea 8 SLC9A3* Slc9a3   Alliance of Genome Resources
congenital stationary night blindness CACNA1F* Cacna1f   Alliance of Genome Resources
congenital stationary night blindness TRPV3* Trpv3   Alliance of Genome Resources
congenital stationary night blindness TRPM1* Trpm1   Alliance of Genome Resources
congenital stationary night blindness GUCY2D* Gucy2e   Alliance of Genome Resources
congenital stationary night blindness 1G GNAT1* Gnat1   Alliance of Genome Resources
congenital stationary night blindness 1H GNB3* Gnb3   Alliance of Genome Resources
congenital stationary night blindness autosomal dominant 3 GNAT1* Gnat1   Alliance of Genome Resources
congenital structural myopathy ANKRD1* Ankrd1   Alliance of Genome Resources
congenital structural myopathy MTM1* Mtm1   Alliance of Genome Resources
congenital structural myopathy MYF6* Myf6   Alliance of Genome Resources
congenital sucrase-isomaltase deficiency SI* Sis   Alliance of Genome Resources
congenital toxoplasmosis HLA-DQA1*, HLA-DQA2 H2-Aa   Alliance of Genome Resources
congenital vertical talus HOXD10* Hoxd10   Alliance of Genome Resources
developmental cardiac valvular defect PLD1* Pld1   Alliance of Genome Resources
developmental cardiac valvular defect MTHFD1* Mthfd1   Alliance of Genome Resources
dextro-looped transposition of the great arteries MED13L* Med13l   Alliance of Genome Resources
dextro-looped transposition of the great arteries MTHFR* Mthfr   Alliance of Genome Resources
dextro-looped transposition of the great arteries SLC19A1* Slc19a1   Alliance of Genome Resources
Diamond-Blackfan anemia RPS19* Rps19 4 models Alliance of Genome Resources
Diamond-Blackfan anemia GH1*, CSH1, CSH2, CSHL1, GH2 Gh   Alliance of Genome Resources
Diamond-Blackfan anemia HEATR3* Heatr3   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 14 with mandibulofacial dysostosis TSR2* Tsr2   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
double outlet right ventricle ISL1* Isl1   Alliance of Genome Resources
epidermolysis bullosa with congenital localized absence of skin and deformity of nails COL7A1* Col7a1   Alliance of Genome Resources
Fanconi anemia FANCC* Fancc   Alliance of Genome Resources
Fanconi anemia BRCA2* Brca2   Alliance of Genome Resources
Fanconi anemia FANCA* Fanca   Alliance of Genome Resources
Fanconi anemia FANCD2* Fancd2   Alliance of Genome Resources
Fanconi anemia FANCG* Fancg   Alliance of Genome Resources
Fanconi anemia FANCI* Fanci   Alliance of Genome Resources
Fanconi anemia GSTM1*, GSTM5 Gstm1, Gstm2, Gstm3, Gstm6   Alliance of Genome Resources
Fanconi anemia GSTT1* Gstt1   Alliance of Genome Resources
Fanconi anemia complementation group B FANCB* Fancb   Alliance of Genome Resources
Fanconi anemia complementation group E FANCE* Fance   Alliance of Genome Resources
Fanconi anemia complementation group F FANCF* Fancf   Alliance of Genome Resources
Fanconi anemia complementation group G FANCG* Fancg   Alliance of Genome Resources
Fanconi anemia complementation group I FANCI* Fanci   Alliance of Genome Resources
Fanconi anemia complementation group J BRIP1* Brip1   Alliance of Genome Resources
Fanconi anemia complementation group L FANCL* Fancl   Alliance of Genome Resources
Fanconi anemia complementation group N PALB2* Palb2   Alliance of Genome Resources
Fanconi anemia complementation group O RAD51C* Rad51c   Alliance of Genome Resources
Fanconi anemia complementation group P SLX4* Slx4 1 "NOT" model Alliance of Genome Resources
Fanconi anemia complementation group Q ERCC4* Ercc4   Alliance of Genome Resources
Fanconi anemia complementation group R RAD51* Rad51   Alliance of Genome Resources
Fanconi anemia complementation group S BRCA1* Brca1   Alliance of Genome Resources
Fanconi anemia complementation group T UBE2T* Ube2t   Alliance of Genome Resources
Fanconi anemia complementation group U XRCC2* Xrcc2   Alliance of Genome Resources
Fanconi anemia complementation group V MAD2L2* Mad2l2   Alliance of Genome Resources
Fanconi anemia complementation group W RFWD3* Rfwd3   Alliance of Genome Resources
gastroschisis ADD1* Add1   Alliance of Genome Resources
heart septal defect BMPR2* Bmpr2   Alliance of Genome Resources
heart septal defect TBX2* Tbx2   Alliance of Genome Resources
heart septal defect MTRR* Mtrr   Alliance of Genome Resources
heart septal defect NKX2-5* Nkx2-5   Alliance of Genome Resources
heart septal defect CRELD1* Creld1   Alliance of Genome Resources
Heinz body anemia HBA1*, HBA2* Hba-a1, Hba-a2   Alliance of Genome Resources
Heinz body anemia HBB*, HBD Hbb-b1, Hbb-b2, Hbb-bh2, Hbb-bs, Hbb-bt   Alliance of Genome Resources
hemoglobin C disease HBB*, HBD Hbb-b1, Hbb-b2, Hbb-bh2, Hbb-bs, Hbb-bt   Alliance of Genome Resources
hemoglobinopathy HBB*, HBD Hbb-b1, Hbb-b2, Hbb-bh2, Hbb-bs, Hbb-bt   Alliance of Genome Resources
hereditary spherocytosis SPTA1* Spta1   Alliance of Genome Resources
hereditary spherocytosis SLC4A1* Slc4a1   Alliance of Genome Resources
hereditary spherocytosis ANK1* Ank1   Alliance of Genome Resources
hereditary spherocytosis EPB42* Epb42   Alliance of Genome Resources
hereditary spherocytosis SPTB* Sptb   Alliance of Genome Resources
hereditary spherocytosis type 2 SPTB* Sptb   Alliance of Genome Resources
hereditary spherocytosis type 5 EPB42* Epb42   Alliance of Genome Resources
holoprosencephaly PLCH1* Plch1   Alliance of Genome Resources
holoprosencephaly PTCH1* Ptch1   Alliance of Genome Resources
holoprosencephaly SHH* Shh   Alliance of Genome Resources
holoprosencephaly SIX3* Six3   Alliance of Genome Resources
holoprosencephaly TGIF1* Tgif1   Alliance of Genome Resources
holoprosencephaly ZIC2* Zic2   Alliance of Genome Resources
holoprosencephaly 12 CNOT1* Cnot1   Alliance of Genome Resources
Holoprosencephaly 13, X-linked STAG2* Stag2   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
hydrophthalmos CYP1B1* Cyp1b1   Alliance of Genome Resources
hypoplastic left heart syndrome MYH7* Myh7   Alliance of Genome Resources
hypoplastic left heart syndrome GJA1*, GJA6P Gja1, Gja6   Alliance of Genome Resources
hypospadias AR* Ar   Alliance of Genome Resources
hypospadias SRD5A2* Srd5a2   Alliance of Genome Resources
hypospadias MAMLD1* Mamld1   Alliance of Genome Resources
hypospadias HSD3B2*, HSD3B1 Hsd3b1, Hsd3b2, Hsd3b3, Hsd3b4, Hsd3b5, Hsd3b6, Hsd3b8, Hsd3b9   Alliance of Genome Resources
hypospadias GSTT1* Gstt1   Alliance of Genome Resources
hypospadias GSTM1*, GSTM5 Gstm1, Gstm2, Gstm3, Gstm6   Alliance of Genome Resources
hypospadias ESR2* Esr2   Alliance of Genome Resources
hypospadias CYP1A1* Cyp1a1   Alliance of Genome Resources
immunodeficiency 47 ATP6AP1* Atp6ap1   Alliance of Genome Resources
Klippel-Feil syndrome 1 GDF6* Gdf6   Alliance of Genome Resources
Klippel-Feil syndrome 2 MEOX1* Meox1   Alliance of Genome Resources
Klippel-Feil syndrome 3 GDF3* Gdf3   Alliance of Genome Resources
Klippel-Feil syndrome 4 MYO18B* Myo18b   Alliance of Genome Resources
large congenital melanocytic nevus HRAS* Hras   Alliance of Genome Resources
large congenital melanocytic nevus NRAS* Nras   Alliance of Genome Resources
Leber congenital amaurosis MYO7A* Myo7a   Alliance of Genome Resources
Leber congenital amaurosis IQCB1* Iqcb1   Alliance of Genome Resources
Leber congenital amaurosis CRB1* Crb1   Alliance of Genome Resources
Leber congenital amaurosis AIPL1* Aipl1   Alliance of Genome Resources
Leber congenital amaurosis RD3* Rd3   Alliance of Genome Resources
Leber congenital amaurosis PRPH2* Prph2   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 15 TULP1* Tulp1   Alliance of Genome Resources
Leber congenital amaurosis 16 KCNJ13* Kcnj13   Alliance of Genome Resources
Leber congenital amaurosis 17 GDF6* Gdf6   Alliance of Genome Resources
lethal congenital contracture syndrome DNM2* Dnm2   Alliance of Genome Resources
lethal congenital contracture syndrome ADGRG6* Adgrg6   Alliance of Genome Resources
lethal congenital contracture syndrome NEK9* Nek9   Alliance of Genome Resources
lethal congenital contracture syndrome ZBTB42* Zbtb42   Alliance of Genome Resources
lethal congenital contracture syndrome GLDN* Gldn   Alliance of Genome Resources
lethal congenital contracture syndrome ADCY6* Adcy6   Alliance of Genome Resources
lethal congenital contracture syndrome CNTNAP1* Cntnap1   Alliance of Genome Resources
lethal congenital contracture syndrome 1 GLE1* Gle1   Alliance of Genome Resources
lethal congenital contracture syndrome 2 ERBB3* Erbb3   Alliance of Genome Resources
lethal congenital contracture syndrome 3 PIP5K1C* Pip5k1c   Alliance of Genome Resources
lethal congenital contracture syndrome 4 MYBPC1* Mybpc1   Alliance of Genome Resources
lethal congenital glycogen storage disease of heart PRKAG2* Prkag2   Alliance of Genome Resources
linear skin defects with multiple congenital anomalies 1 HCCS* Hccs   Alliance of Genome Resources
linear skin defects with multiple congenital anomalies 2 COX7B* Cox7b   Alliance of Genome Resources
linear skin defects with multiple congenital anomalies 3 NDUFB11* Ndufb11, Ndufb11b   Alliance of Genome Resources
lissencephaly POMT1* Pomt1   Alliance of Genome Resources
lissencephaly POMT2* Pomt2   Alliance of Genome Resources
lissencephaly POMGNT1* Pomgnt1   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 4 NDE1* Nde1   Alliance of Genome Resources
lissencephaly 5 LAMB1* Lamb1   Alliance of Genome Resources
lissencephaly 6 KATNB1* Katnb1   Alliance of Genome Resources
lissencephaly 7 with cerebellar hypoplasia CDK5* Cdk5   Alliance of Genome Resources
lissencephaly 8 TMTC3* Tmtc3   Alliance of Genome Resources
lissencephaly 9 with complex brainstem malformation MACF1* Macf1   Alliance of Genome Resources
methemoglobinemia CYB5A* Cyb5a   Alliance of Genome Resources
methemoglobinemia CYB5R3* Cyb5r3   Alliance of Genome Resources
microcephaly EFTUD2* Eftud2   Alliance of Genome Resources
microcephaly IGF1* Igf1   Alliance of Genome Resources
microcephaly NSD1* Nsd1   Alliance of Genome Resources
microcephaly SLC25A19* Slc25a19   Alliance of Genome Resources
microcephaly TUBA1A* Tuba1a   Alliance of Genome Resources
multiple congenital anomalies-hypotonia-seizures syndrome 1 PIGN* Pign   Alliance of Genome Resources
multiple congenital anomalies-hypotonia-seizures syndrome 2 PIGA* Piga   Alliance of Genome Resources
multiple congenital anomalies-hypotonia-seizures syndrome 3 PIGT* Pigt   Alliance of Genome Resources
multiple congenital anomalies-hypotonia-seizures syndrome 4 PIGQ* Pigq   Alliance of Genome Resources
multiple types of congenital heart defects 6 GDF1* Gdf1   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
myelomeningocele SLC2A1* Slc2a1   Alliance of Genome Resources
neural tube defect CBS* Cbs   Alliance of Genome Resources
neural tube defect FUZ* Fuz   Alliance of Genome Resources
neural tube defect MTHFD1* Mthfd1   Alliance of Genome Resources
neural tube defect TBXT* T   Alliance of Genome Resources
neural tube defect VANGL1* Vangl1 1 model Alliance of Genome Resources
neurogenic-type arthrogryposis multiplex congenita-2 ERGIC1* Ergic1   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 4 RSPO4* Rspo4   Alliance of Genome Resources
nonsyndromic congenital nail disorder 8 COL7A1* Col7a1   Alliance of Genome Resources
Norman-Roberts syndrome RELN* Reln   Alliance of Genome Resources
oblique facial clefting 1 SPECC1L* Specc1l   Alliance of Genome Resources
Oguchi disease-1 SAG* Sag   Alliance of Genome Resources
orofacial cleft MEIS2* Meis2   Alliance of Genome Resources
orofacial cleft AXIN2* Axin2   Alliance of Genome Resources
orofacial cleft ACSS2* Acss2   Alliance of Genome Resources
orofacial cleft GSTT1* Gstt1   Alliance of Genome Resources
orofacial cleft LOXHD1* Loxhd1   Alliance of Genome Resources
orofacial cleft MYH9* Myh9   Alliance of Genome Resources
orofacial cleft PHYH* Phyh   Alliance of Genome Resources
orofacial cleft 10 SUMO1* Sumo1   Alliance of Genome Resources
orofacial cleft 11 BMP4* Bmp4   Alliance of Genome Resources
orofacial cleft 15 DLX4* Dlx4   Alliance of Genome Resources
orofacial cleft 5 MSX1* Msx1   Alliance of Genome Resources
orofacial cleft 6 IRF6* Irf6   Alliance of Genome Resources
orofacial cleft 8 TP63* Trp63   Alliance of Genome Resources
pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures TUBGCP2* Tubgcp2   Alliance of Genome Resources
palmoplantar keratoderma and congenital alopecia 1 GJA1*, GJA6P Gja1, Gja6   Alliance of Genome Resources
pancreatic hypoplasia-diabetes-congenital heart disease syndrome GATA6* Gata6   Alliance of Genome Resources
patent ductus arteriosus PTGIS* Ptgis   Alliance of Genome Resources
patent ductus arteriosus SOX17* Sox17   Alliance of Genome Resources
patent ductus arteriosus MYH11* Myh11   Alliance of Genome Resources
patent ductus arteriosus PRDM6* Prdm6   Alliance of Genome Resources
periventricular nodular heterotopia ARFGEF2* Arfgef2   Alliance of Genome Resources
periventricular nodular heterotopia ARF1* Arf1   Alliance of Genome Resources
periventricular nodular heterotopia MAP1B* Map1b   Alliance of Genome Resources
periventricular nodular heterotopia ERMARD* Ermard, Ermardl1, Ermardl2   Alliance of Genome Resources
periventricular nodular heterotopia NEDD4L* Nedd4l   Alliance of Genome Resources
polydactyly SHH* Shh   Alliance of Genome Resources
polydactyly GLI3* Gli3   Alliance of Genome Resources
preaxial polydactyly I GLI1* Gli1   Alliance of Genome Resources
preaxial polydactyly II SHH* Shh   Alliance of Genome Resources
preaxial polydactyly type IV GLI3* Gli3   Alliance of Genome Resources
primary autosomal dominant microcephaly 18 WDFY3* Wdfy3   Alliance of Genome Resources
primary autosomal recessive microcephaly NUP37* Nup37   Alliance of Genome Resources
primary autosomal recessive microcephaly ASPM* Aspm   Alliance of Genome Resources
primary autosomal recessive microcephaly BUB1* Bub1   Alliance of Genome Resources
primary autosomal recessive microcephaly CPAP* Cpap   Alliance of Genome Resources
primary autosomal recessive microcephaly KIF14* Kif14   Alliance of Genome Resources
primary autosomal recessive microcephaly KNL1* Knl1   Alliance of Genome Resources
primary autosomal recessive microcephaly LMNB1* Lmnb1   Alliance of Genome Resources
primary autosomal recessive microcephaly LMNB2* Lmnb2   Alliance of Genome Resources
primary autosomal recessive microcephaly MCPH1* Mcph1   Alliance of Genome Resources
primary autosomal recessive microcephaly NCAPD2* Ncapd2   Alliance of Genome Resources
primary autosomal recessive microcephaly NCAPD3* Ncapd3   Alliance of Genome Resources
primary autosomal recessive microcephaly NCAPH* Ncaph   Alliance of Genome Resources
primary autosomal recessive microcephaly PDCD6IP* Pdcd6ip   Alliance of Genome Resources
primary autosomal recessive microcephaly RRP7A*, RRP7BP Rrp7a   Alliance of Genome Resources
primary autosomal recessive microcephaly TRAPPC14* Trappc14   Alliance of Genome Resources
primary autosomal recessive microcephaly WDR62* Wdr62   Alliance of Genome Resources
primary autosomal recessive microcephaly 1 MCPH1* Mcph1   Alliance of Genome Resources
primary autosomal recessive microcephaly 10 ZNF335* Zfp335   Alliance of Genome Resources
primary autosomal recessive microcephaly 11 PHC1* Phc1   Alliance of Genome Resources
primary autosomal recessive microcephaly 12 CDK6* Cdk6   Alliance of Genome Resources
primary autosomal recessive microcephaly 13 CENPE* Cenpe   Alliance of Genome Resources
primary autosomal recessive microcephaly 14 SASS6* Sass6   Alliance of Genome Resources
primary autosomal recessive microcephaly 15 MFSD2A* Mfsd2a   Alliance of Genome Resources
primary autosomal recessive microcephaly 16 ANKLE2* Ankle2   Alliance of Genome Resources
primary autosomal recessive microcephaly 17 CIT* Cit   Alliance of Genome Resources
primary autosomal recessive microcephaly 19 COPB2* Copb2   Alliance of Genome Resources
primary autosomal recessive microcephaly 3 CDK5RAP2* Cdk5rap2   Alliance of Genome Resources
primary autosomal recessive microcephaly 4 KNL1* Knl1   Alliance of Genome Resources
primary autosomal recessive microcephaly 5 ASPM* Aspm   Alliance of Genome Resources
primary autosomal recessive microcephaly 6 CPAP* Cpap   Alliance of Genome Resources
primary autosomal recessive microcephaly 7 STIL* Stil   Alliance of Genome Resources
primary autosomal recessive microcephaly 8 CEP135* Cep135   Alliance of Genome Resources
primary autosomal recessive microcephaly 9 CEP152* Cep152   Alliance of Genome Resources
primary microcephaly CIT* Cit   Alliance of Genome Resources
pure red-cell aplasia HLA-DRB1*, HLA-DRB3, HLA-DRB4, HLA-DRB5 H2-Eb1, H2-Eb2   Alliance of Genome Resources
pure red-cell aplasia HLA-DQB1*, HLA-DQB2 H2-Ab1   Alliance of Genome Resources
radioulnar synostosis HOXA11* Hoxa11   Alliance of Genome Resources
radioulnar synostosis SMAD6* Smad6   Alliance of Genome Resources
renal-hepatic-pancreatic dysplasia NEK8* Nek8   Alliance of Genome Resources
renal-hepatic-pancreatic dysplasia NPHP3* Nphp3   Alliance of Genome Resources
severe congenital encephalopathy due to MECP2 mutation MECP2* Mecp2   Alliance of Genome Resources
severe congenital neutropenia SEC61A1* Sec61a1   Alliance of Genome Resources
severe congenital neutropenia SRP68* Srp68   Alliance of Genome Resources
severe congenital neutropenia CLPB* Clpb   Alliance of Genome Resources
severe congenital neutropenia ELANE* Elane   Alliance of Genome Resources
severe congenital neutropenia CSF3R* Csf3r   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 3 HAX1* Hax1   Alliance of Genome Resources
severe congenital neutropenia 4 G6PC3* G6pc3   Alliance of Genome Resources
severe congenital neutropenia 5 VPS45* Vps45   Alliance of Genome Resources
severe congenital neutropenia 6 JAGN1* Jagn1   Alliance of Genome Resources
severe congenital neutropenia 7 CSF3R* Csf3r   Alliance of Genome Resources
severe congenital neutropenia 8 SRP54* Srp54a, Srp54b, Srp54c   Alliance of Genome Resources
Silver-Russell syndrome PLAG1* Plag1   Alliance of Genome Resources
Silver-Russell syndrome IGF2* Igf2   Alliance of Genome Resources
Silver-Russell syndrome HMGA2* Hmga2   Alliance of Genome Resources
situs inversus ZIC3* Zic3   Alliance of Genome Resources
spina bifida APEX1* Apex1   Alliance of Genome Resources
spina bifida MTRR* Mtrr   Alliance of Genome Resources
spina bifida MTR* Mtr   Alliance of Genome Resources
spina bifida MTHFR* Mthfr   Alliance of Genome Resources
spina bifida MTHFD1* Mthfd1   Alliance of Genome Resources
spina bifida GLI2* Gli2   Alliance of Genome Resources
spondyloepiphyseal dysplasia with congenital joint dislocations CHST3* Chst3   Alliance of Genome Resources
subcortical band heterotopia DCX* Dcx   Alliance of Genome Resources
tetralogy of Fallot TBX20* Tbx20   Alliance of Genome Resources
tetralogy of Fallot TBX1* Tbx1 1 model Alliance of Genome Resources
tetralogy of Fallot PTPN11* Ptpn11   Alliance of Genome Resources
tetralogy of Fallot NRP1* Nrp1   Alliance of Genome Resources
tetralogy of Fallot MTHFR* Mthfr   Alliance of Genome Resources
tetralogy of Fallot MTHFD1* Mthfd1   Alliance of Genome Resources
tetralogy of Fallot JAG1* Jag1   Alliance of Genome Resources
tetralogy of Fallot GATA6* Gata6   Alliance of Genome Resources
tetralogy of Fallot GATA5* Gata5   Alliance of Genome Resources
tetralogy of Fallot GATA4* Gata4   Alliance of Genome Resources
tetralogy of Fallot CFC1B*, CFC1 Cfc1   Alliance of Genome Resources
Thomsen disease CLCN1* Clcn1   Alliance of Genome Resources
thyroid dyshormonogenesis 1 SLC5A5* Slc5a5   Alliance of Genome Resources
thyroid dyshormonogenesis 2A TPO* Tpo   Alliance of Genome Resources
thyroid dyshormonogenesis 3 TG* Tg   Alliance of Genome Resources
thyroid dyshormonogenesis 4 IYD* Iyd   Alliance of Genome Resources
thyroid dyshormonogenesis 5 DUOXA2* Duoxa2   Alliance of Genome Resources
thyroid dyshormonogenesis 6 DUOX2* Duox2   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
ventricular septal defect SALL4* Sall4   Alliance of Genome Resources
ventricular septal defect NKX2-6* Nkx2-6   Alliance of Genome Resources
ventricular septal defect NKX2-5* Nkx2-5   Alliance of Genome Resources
ventricular septal defect TBX1* Tbx1   Alliance of Genome Resources
ventricular septal defect NFATC1* Nfatc1   Alliance of Genome Resources
ventricular septal defect TBX20* Tbx20   Alliance of Genome Resources
ventricular septal defect MMP9* Mmp9   Alliance of Genome Resources
ventricular septal defect ISL1* Isl1   Alliance of Genome Resources
ventricular septal defect GATA6* Gata6   Alliance of Genome Resources
ventricular septal defect GATA5* Gata5   Alliance of Genome Resources
ventricular septal defect GATA4* Gata4   Alliance of Genome Resources
ventricular septal defect EVC* Evc   Alliance of Genome Resources
ventricular septal defect CITED2* Cited2   Alliance of Genome Resources
ventricular septal defect TCF21* Tcf21   Alliance of Genome Resources
visceral heterotaxy PKD1L1* Pkd1l1   Alliance of Genome Resources
visceral heterotaxy NODAL* Nodal   Alliance of Genome Resources
visceral heterotaxy MNS1* Mns1   Alliance of Genome Resources
visceral heterotaxy GDF1* Gdf1   Alliance of Genome Resources
visceral heterotaxy CFAP53* Cfap53   Alliance of Genome Resources
visceral heterotaxy CFAP52* Cfap52   Alliance of Genome Resources
visceral heterotaxy CFAP45* Cfap45   Alliance of Genome Resources
Walker-Warburg syndrome FKRP* Fkrp   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
X-linked congenital bilateral absence of vas deferens ADGRG2* Adgrg2   Alliance of Genome Resources
X-linked congenital hemolytic anemia ATP11C* Atp11c   Alliance of Genome Resources
X-linked lissencephaly 1 DCX* Dcx   Alliance of Genome Resources
X-linked lissencephaly 2 ARX* Arx   Alliance of Genome Resources
X-linked severe congenital neutropenia WAS* Was   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
  centronuclear myopathy Tg(Myh7-Pln)2Egk 1 model
  cleft palate Tg(CAG-LacZ,-ACVR1*,-EGFP)35-1Mis 1 model
  cleft palate-lateral synechia syndrome Tg(CAG-Bmp4,-EGFP)1Ypc 1 model
  congenital generalized lipodystrophy type 2 Tg(aP2-SREBF1c)9884Reh 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
  congenital stromal corneal dystrophy Tg(CAG-cat,-Dcn*)#Debi 1 model
  dextro-looped transposition of the great arteries Del(11Mpo-Chad)18Brd 1 model
  Diamond-Blackfan anemia Tg(CAG-RPS19*R62W)#Dmb 1 model
  lethal congenital glycogen storage disease of heart Tg(Myh6/tetO-PRKAG2*N488I)1Chib 1 model
  lethal congenital glycogen storage disease of heart Tg(Myh6-PRKAG2*T400N)1Feah 1 model
  Silver-Russell syndrome Tg(BAC144D14)5A2Masu 1 model
  Silver-Russell syndrome Tg(BAC144D14)5D3Masu 2 models
  tetralogy of Fallot Del(11Mpo-Chad)18Brd 1 model