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: 1291
Gene Symbol: COL6A1
COL6A1 		collagen type VI alpha 1 chain 0.587 0.731 1.00
CUI: C0409345
Disease: Flexion contracture - wrist
Flexion contracture - wrist 		disease 0.100 None 0 1
Entrez Id: 2201
Gene Symbol: FBN2
FBN2 		fibrillin 2 0.505 0.808 1.00
CUI: C0409345
Disease: Flexion contracture - wrist
Flexion contracture - wrist 		disease 0.100 None 0 1
Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL 		interferon regulatory factor 2 binding protein like 0.631 0.462 0.84
CUI: C0409345
Disease: Flexion contracture - wrist
Flexion contracture - wrist 		disease 0.100 None 0 1
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6 		phospholipase A2 group VI 0.476 0.846 2.5E-10
CUI: C0409345
Disease: Flexion contracture - wrist
Flexion contracture - wrist 		disease 0.100 None 0 1