Congenital muscular dystrophy

Disease Term Disease ID Gene Symbol Classification References Source
Congenital muscular dystrophy (disorder) C0699743 CHKB Causal Pathogenic evidence from ClinVar - ClinVar
CRPPA Causal Pathogenic evidence from ClinVar 23288328 ClinVar
ITGA7 Causal Pathogenic evidence from ClinVar 9590299 ClinVar
LAMA2 Causal Pathogenic evidence from ClinVar - ClinVar
LMNA Causal Pathogenic evidence from ClinVar - ClinVar
ADGRG1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CAPN3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CNTNAP1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
COL12A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
COL6A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
COL6A2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
COL6A3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27854218 -
DAG1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 30055862 -
FKBP14 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
FKRP 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 - -
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 - -
MYH7 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
POMGNT1 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 29910097 -
POMT1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
POMT2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
RYR1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SELENON Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SYNE1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SYNE2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19542096 -
TTN Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
TTN-AS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Muscular Dystrophy, Congenital, Megaconial Type C1865233 CHKB Causal Pathogenic evidence from ClinVar 16371353, 21665002, 22782513, 24997086, 25187204, 26006750, 26067811, 26782016, 27604308, 30986505 ClinVar
CHKB-CPT1B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21665002 -
Muscular dystrophy congenital, merosin negative C1263858 ITGA7 Causal Pathogenic evidence from ClinVar 9590299 ClinVar
LAMA2 Causal Pathogenic evidence from ClinVar 7550355, 9185182, 9541105, 9674786, 10022829, 10611118, 10619025, 10694916, 10747011, 11287370, 11591858, 12552556, 16216942, 17949279, 18700894, 20207543, 23326386, 24223650, 24225367, 24534542, 24611677, 25124546, 25332755, 25525159, 25663498, 27159402, 27234031, 27708273, 27858741, 28182637, 28688748 ClinVar
Muscular Dystrophy, Congenital, due to Partial LAMA2 Deficiency C1842898 LAMA2 Causal Pathogenic evidence from ClinVar 20207543, 24225367, 30055037, 30301903 ClinVar
Congenital muscular dystrophy due to LMNA mutation 157973 LMNA Causal Pathogenic evidence from ClinVar - ClinVar
MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder) C2750785 LMNA Causal Pathogenic evidence from ClinVar 11799477, 18551513, 20186049, 27532257 ClinVar
Congenital muscular dystrophy, Ullrich type 75840 COL12A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
COL6A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
COL6A2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
COL6A3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
MUSCULAR DYSTROPHY, CONGENITAL, 1C C1847759 FKRP Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11053680, 11592034, 12654965, 12666124, 14652796, 17336067, 20236121, 27421908, 27604308 -
Congenital muscular dystrophy, Fukuyama type 272 FKTN Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Muscular Dystrophy, Congenital, Type 1D C1837229 LARGE1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12966029, 21248746, 24709677, 27421908, 27604308 -