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: 10998
Gene Symbol: SLC27A5
SLC27A5
solute carrier family 27 member 5 0.563 0.769 8.4E-15
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1