Walker-warburg congenital muscular dystrophy

Disease Term Disease ID Gene Symbol Classification References Source
Walker-Warburg congenital muscular dystrophy C0265221 FKRP Causal Pathogenic evidence from ClinVar 11592034, 11741828, 12666124, 12707425, 14647208, 14652796, 14742276, 15060126, 15121789, 15574464, 15580560, 15833426, 16368217, 16476814, 16634037, 16786213, 17055682, 17113772, 17336067, 17446099, 18060779, 18639457, 18671187, 18691338, 19955119, 20236121, 21220724, 22908982, 22981120, 23420653, 23576288, 23591631, 23800702, 23894383, 24447024, 26320847, 26436962, 27363342, 27439679, 27848944, 28629604, 28931339 ClinVar
FKTN Causal Pathogenic evidence from ClinVar 9690476, 11165248, 17597323, 17878207, 18177472, 18752264, 19179078, 19266496, 19396839, 20961758, 22275357, 25814170, 27065010 ClinVar
POMT1 Causal Pathogenic evidence from ClinVar 12369018, 15637732, 16575835, 16717220, 17559086, 17869517, 17878207, 18752264, 19880378, 20816175, 22323514, 22549409, 24304607, 24491487, 28116189 ClinVar
RXYLT1 Causal Pathogenic evidence from ClinVar 23217329, 23519211 ClinVar
B3GALNT2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23453667 -
B4GAT1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23359570 -
COL4A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21625620 -
CRPPA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22522420, 22522421, 24120487 -
DAG1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22810924, 25529582, 25934851 -
GMPPB Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
LARGE1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19299310, 21248746, 21727005 -
POMGNT1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19299310 -
POMGNT2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22958903, 27066570 -
POMK Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23519211 -
POMT2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19880378 -