Source: CLINVAR ×
Gene UniProt Gene Full Name Protein Class N. diseases g DSI g DPI g pLI Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 1291
Gene Symbol: COL6A1
COL6A1 		P12109 collagen type VI alpha 1 chain Receptor 69 0.587 0.731 1.00 0.100 None 0 1
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1 		Q02388 collagen type VII alpha 1 chain Receptor 38 0.545 0.808 2.4E-40 0.100 None 0 2
Entrez Id: 1756
Gene Symbol: DMD
DMD 		P11532 dystrophin 35 0.423 0.923 1.00 0.100 None 0 1
Entrez Id: 2581
Gene Symbol: GALC
GALC 		P54803 galactosylceramidase 23 0.604 0.615 5.2E-15 0.100 None 0 2
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4 		Q9HBA0 transient receptor potential cation channel subfamily V member 4 Ion channel 30 0.457 0.808 2.2E-16 0.100 None 0 1
Entrez Id: 6261
Gene Symbol: RYR1
RYR1 		P21817 ryanodine receptor 1 Ion channel 34 0.489 0.808 1.6E-29 0.100 None 0 1
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2 		Q9H5I5 piezo type mechanosensitive ion channel component 2 Ion channel 30 0.529 0.769 8.1E-07 0.100 None 0 2
Entrez Id: 823
Gene Symbol: CAPN1
CAPN1 		P07384 calpain 1 Enzyme 25 0.539 0.808 5.9E-10 0.100 None 0 1
Entrez Id: 9927
Gene Symbol: MFN2
MFN2 		O95140 mitofusin 2 Enzyme 22 0.471 0.846 0.99 0.100 None 0 1