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: 1292
Gene Symbol: COL6A2
COL6A2 		collagen type VI alpha 2 chain 0.599 0.692 6.5E-08
CUI: C1856877
Disease: Hyperextensible hand joints
Hyperextensible hand joints 		phenotype 0.100 None 0 1
Entrez Id: 1376
Gene Symbol: CPT2
CPT2 		carnitine palmitoyltransferase 2 0.542 0.769 4.6E-10
CUI: C1856877
Disease: Hyperextensible hand joints
Hyperextensible hand joints 		phenotype 0.100 None 0 1
Entrez Id: 5393
Gene Symbol: EXOSC9
EXOSC9 		exosome component 9 0.705 0.423 1.8E-11
CUI: C1856877
Disease: Hyperextensible hand joints
Hyperextensible hand joints 		phenotype 0.100 None 0 1