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: 1047
Gene Symbol: CLGN
CLGN
calmegin 0.839 0.115 1.3E-11
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 3