Bethlem myopathy

Disease Term Disease ID Gene Symbol Classification References Source
Bethlem myopathy 610 COL12A1 Causal Pathogenic evidence from ClinVar - ClinVar
COL6A3 Causal Pathogenic evidence from ClinVar - ClinVar
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 - -
BETHLEM MYOPATHY 1 C1834674 COL12A1 Causal Pathogenic evidence from ClinVar 24334604, 24334769 ClinVar
COL6A3 Causal Pathogenic evidence from ClinVar 7695699, 8218237, 9536084, 10399756, 15563506, 15689448, 17886299, 18366090, 18825676, 19344236, 19564581, 20976770, 21280092, 24038877, 26004199, 26247046, 27447704, 27854218, 28688748 ClinVar
COL6A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 7695699, 8218237, 8782832, 10419498, 11865138, 12840783, 15689448, 15955946, 16130093, 17785674, 17886299, 18366090, 18825676, 19344236, 19564581, 19884007, 20976770, 21280092, 21520333, 22075033, 22975586, 23661642, 23738969, 24038877, 24223098, 24271325, 24801232, 25535305, 26867126, 27708273, 28182637, 28424332, 28877744, 29417091 -
COL6A2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 7695699, 8218237, 8782832, 11865138, 15689448, 17785673, 17886299, 18366090, 19309692, 19344236, 19564581, 19884007, 19949035, 20576434, 20976770, 21280092, 21520333, 23326386, 24038877, 24801232, 25380242, 25533456, 25535305, 27854218 -
BETHLEM MYOPATHY 2 C4225313 COL12A1 Causal Pathogenic evidence from ClinVar 24334604, 24334769, 27159402, 27348394 ClinVar
BETHLEM MYOPATHY 1, AUTOSOMAL RECESSIVE C4225638 COL6A2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -