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: 84033
Gene Symbol: OBSCN
OBSCN
obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 0.736 0.538 1.9E-164
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 2