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: 57465
Gene Symbol: TBC1D24
TBC1D24 		TBC1 domain family member 24 0.530 0.808 1.3E-08
CUI: C3550704
Disease: Abnormality of digit
Abnormality of digit 		phenotype 0.100 None 1.000 2 8 2014 2014
Entrez Id: 2006
Gene Symbol: ELN
ELN 		elastin 0.415 0.885 2.1E-14
CUI: C3550704
Disease: Abnormality of digit
Abnormality of digit 		phenotype 0.100 None 0 1