Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 7072
Gene Symbol: TIA1
TIA1 		TIA1 cytotoxic granule associated RNA binding protein 0.595 0.577 0.27
CUI: C0221054
Disease: Welander Distal Myopathy
Welander Distal Myopathy 		disease 0.740 None 1.000 5 1 1999 2019
Entrez Id: 54980
Gene Symbol: C2orf42
C2orf42 		chromosome 2 open reading frame 42 0.931 0.192 5.1E-03
CUI: C0221054
Disease: Welander Distal Myopathy
Welander Distal Myopathy 		disease 0.100 None 1.000 5 1 1999 2017