Muscular dystrophy-dystroglycanopathy

Disease Term Disease ID Gene Symbol Classification References Source
Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1 C4284790 B3GALNT2 Causal Pathogenic evidence from ClinVar - ClinVar
CRPPA Causal Pathogenic evidence from ClinVar 22522420, 22522421 ClinVar
FKRP Causal Pathogenic evidence from ClinVar - ClinVar
GMPPB Causal Pathogenic evidence from ClinVar - ClinVar
LARGE1 Causal Pathogenic evidence from ClinVar - ClinVar
POMGNT1 Causal Pathogenic evidence from ClinVar - ClinVar
B4GAT1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
DAG1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
FKTN Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
POMGNT2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
POMK Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
POMT1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12369018, 14678799, 15037715, 15637732, 16575835, 19299310, 27421908, 27604308 -
POMT2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
RXYLT1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7 C3553330 CRPPA Causal Pathogenic evidence from ClinVar 2328832, 2522420, 9492098, 22522420, 22522421, 23217329, 23288328, 24120487, 26687144 ClinVar
CRPPA-AS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22522420, 23288328 -
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 C3150413 FKRP Causal Pathogenic evidence from ClinVar 11053680, 11592034, 15121789, 20236121, 27421908, 27604308 ClinVar
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6 C3150414 LARGE1 Causal Pathogenic evidence from ClinVar 12966029, 19067344, 19299310, 21248746, 24709677, 27421908, 27604308 ClinVar
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3 C3151519 POMGNT1 Causal Pathogenic evidence from ClinVar 11709191, 12588800, 12788071, 15207699, 15236414, 15466003, 17030669, 17878207, 19067344, 19679478, 22419172, 27421908, 27604308 ClinVar
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3 C3150412 POMGNT1 Causal Pathogenic evidence from ClinVar 11709191, 12588800, 15236414, 15466003, 17030669, 17559086, 17878207, 17906881, 18330676, 19067344, 19299310, 19679478, 21361872, 22323514, 22419172, 22554691, 23326386, 23689641, 24282183, 24731844, 25390965, 26938784, 28424332 ClinVar
Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 280333 DAG1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4 C2751052 FKTN Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11165248, 14627679, 17878207, 18177472, 19179078, 19299310, 27421908, 27604308 -
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 C3150415 POMT1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12369018, 14678799, 15637732, 16575835, 16717220, 17559086, 17869517, 17878207, 18752264, 19299310, 20816175, 22323514, 22549409, 24304607, 24491487, 27421908, 27604308, 28116189 -
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2 C3150411 POMT2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15894594, 16701995, 17559086, 17634419, 17878207, 17878297, 18752264, 19138766, 22700954, 22958903, 24002165, 26495167, 27421908, 27604308, 28815891, 28980384 -
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 C3150416 POMT2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15894594, 17559086, 17634419, 17878207, 17878297, 18752264, 19138766, 19299310, 24002165, 26495167, 27421908, 27604308, 27854218, 28980384 -