Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies

Disease Term Disease ID Gene Symbol Classification References Source
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11 C3554638 B3GALNT2 Causal Pathogenic evidence from ClinVar 23453667, 29273094 ClinVar
TBCE Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13 C3809042 B4GAT1 Causal Pathogenic evidence from ClinVar 23359570, 23877401 ClinVar
B3GNT2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23877401 -
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8 C3553813 CRPPA Causal Pathogenic evidence from ClinVar - ClinVar
POMGNT2 Causal Pathogenic evidence from ClinVar 22958903, 27066570 ClinVar
CRPPA-AS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9 C4225291 DAG1 Causal Pathogenic evidence from ClinVar 22810924, 24052401, 25529582, 25934851 ClinVar
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 C3809216 GMPPB Causal Pathogenic evidence from ClinVar 23768512, 23894383, 24780531, 25529582, 25681410, 25770200, 26133662, 26310427, 27766311, 27874200, 28433477, 28478914 ClinVar
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12 C3808964 POMK Causal Pathogenic evidence from ClinVar 23519211, 23929950, 24556084, 24925318, 29910097 ClinVar
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10 C3554381 RXYLT1 Causal Pathogenic evidence from ClinVar 23217329, 23519211, 27130732, 27212206, 27733679 ClinVar