Myopathy

Disease Term Disease ID Gene Symbol Classification References Source
MYOPATHY
EFO_0004145C0026848
TBC1D21 Unknown
31220337
GWAS catalog
TBX21 Unknown
31220337
GWAS catalog
TGFB1 Unknown — Disgenet
TK2 Unknown — Disgenet
TNNI2 Unknown — Disgenet
TNNT1 Unknown — Disgenet
TRAPPC11 Unknown — Disgenet
TUBG1 Unknown — Disgenet
XKR6 Unknown
31220337
GWAS catalog
ZNF536 Unknown
31220337
GWAS catalog
ZNF676 Unknown
31220337
GWAS catalog
RYR1-RELATED MYOPATHY
MONDO:0100150
RYR1 Causal
16357209 16621918 17376685 19966218 20888934 21454501 25960145 27858745 28527222 8220422
ClinGen GWAS catalog
TOR1AIP1-RELATED MYOPATHY
MONDO:0100582
TOR1AIP1 Unknown
24055652 24856141 27342937 32873274 33215087 33405017 34164833
ClinGen HPO