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: 4851
Gene Symbol: NOTCH1
NOTCH1 		notch receptor 1 0.369 0.885 1.00
CUI: C1855652
Disease: Fetus Small for Gestational Age
Fetus Small for Gestational Age 		phenotype 0.100 None 1.000 1 1 2014 2014
Entrez Id: 7019
Gene Symbol: TFAM
TFAM 		transcription factor A, mitochondrial 0.529 0.731 0.17
CUI: C1855652
Disease: Fetus Small for Gestational Age
Fetus Small for Gestational Age 		phenotype 0.100 None 0 1