Myopathy

Disease Term Disease ID Gene Symbol Classification References Source
Myopathy C0026848 ANO5 Causal Pathogenic evidence from ClinVar - ClinVar
COL6A1 Causal Pathogenic evidence from ClinVar - ClinVar
COL6A2 Causal Pathogenic evidence from ClinVar - ClinVar
COL6A3 Causal Pathogenic evidence from ClinVar - ClinVar
DMD Causal Pathogenic evidence from ClinVar - ClinVar
DNM2 Causal Pathogenic evidence from ClinVar - ClinVar
GAA Causal Pathogenic evidence from ClinVar - ClinVar
MYH7 Causal Pathogenic evidence from ClinVar - ClinVar
ORAI1 Causal Pathogenic evidence from ClinVar - ClinVar
RAPSN Causal Pathogenic evidence from ClinVar 9668287 ClinVar
RYR1 Causal Pathogenic evidence from ClinVar - ClinVar
SCN4A Causal Pathogenic evidence from ClinVar 15596759, 19065518 ClinVar
STIM1 Causal Pathogenic evidence from ClinVar - ClinVar
TK2 Causal Pathogenic evidence from ClinVar - ClinVar
TPM3 Causal Pathogenic evidence from ClinVar - ClinVar
TRIM32 Causal Pathogenic evidence from ClinVar - ClinVar
TTN Causal Pathogenic evidence from ClinVar 15802564 ClinVar
ABCC9 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ABHD5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ACACA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ACADM Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ACADS Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ACADVL Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ACTA1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Myopathy, Centronuclear, 1 C4551952 BIN1 Causal Pathogenic evidence from ClinVar 17676042 ClinVar
DNM2 Causal Pathogenic evidence from ClinVar 15731758, 16227997, 17376685, 17825552, 17932957, 19122038, 19623537, 19932619, 19932620, 20227276, 20529869, 20858595, 22096584, 22396310, 23813975, 25492887, 26633545 ClinVar
MYH7 Causal Pathogenic evidence from ClinVar - ClinVar
ORAI1 Causal Pathogenic evidence from ClinVar - ClinVar
RYR1 Causal Pathogenic evidence from ClinVar 17376685 ClinVar
STIM1 Causal Pathogenic evidence from ClinVar - ClinVar
TPM3 Causal Pathogenic evidence from ClinVar - ClinVar
ACTA1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Myopathy, Centronuclear, Autosomal Dominant C1834558 BIN1 Causal Pathogenic evidence from ClinVar 17676042, 25260562 ClinVar
DNM2 Causal Pathogenic evidence from ClinVar 16227997, 17376685, 17932957, 21514436, 26273216, 29246969, 31691805 ClinVar
MYH7 Causal Pathogenic evidence from ClinVar - ClinVar
ORAI1 Causal Pathogenic evidence from ClinVar - ClinVar
RYR1 Causal Pathogenic evidence from ClinVar 17376685 ClinVar
STIM1 Causal Pathogenic evidence from ClinVar - ClinVar
TPM3 Causal Pathogenic evidence from ClinVar - ClinVar
Myopathy, Centronuclear, Autosomal Recessive C0410204 BIN1 Causal Pathogenic evidence from ClinVar 17676042, 20142620, 24549043, 24755653, 29950440 ClinVar
RYR1 Causal Pathogenic evidence from ClinVar 20839240 ClinVar
SPEG Causal Pathogenic evidence from ClinVar 25087613 ClinVar
TTN Causal Pathogenic evidence from ClinVar 23975875 ClinVar
MYOPATHY, TUBULAR AGGREGATE, 1 C4011726 ORAI1 Causal Pathogenic evidence from ClinVar - ClinVar
STIM1 Causal Pathogenic evidence from ClinVar 23332920, 24570283, 25326555, 25953320 ClinVar
MYOPATHY, TUBULAR AGGREGATE, 2 C4014557 ORAI1 Causal Pathogenic evidence from ClinVar 24591628, 25227914, 28058752 ClinVar
Central Core Myopathy (disorder) C0751951 RYR1 Causal Pathogenic evidence from ClinVar 7829078, 8220422, 8220423, 9497245, 10097181, 11113224, 11709545, 11741831, 12112081, 12136074, 12565913, 12566385, 12937085, 14570802, 14670767, 14708096, 14985404, 16621918, 16917943, 17204054, 17226826, 18253926, 18312400, 20080402, 20142353, 21674524, 21989361, 22473935, 23553484, 23558838, 23919265, 24561095, 24951453, 25476234, 25747005, 26381711, 26799446, 26932181, 27234031, 27586648, 27854218 ClinVar
MYOPATHY, CENTRONUCLEAR, 5 C4014814 SPEG Causal Pathogenic evidence from ClinVar 19118250, 25087613, 28624463, 29474540, 29614691, 30157964, 30412272 ClinVar
Myopathies, Nemaline C0206157 TPM3 Causal Pathogenic evidence from ClinVar 10619715, 18300303 ClinVar
ACTA1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10508519 -