Source: ORPHANET

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: 3815
Gene Symbol: KIT
KIT
KIT proto-oncogene, receptor tyrosine kinase 0.366 0.808 0.98
CUI: C0080024
Disease: Piebaldism
Piebaldism
disease 1.000 None 1.000 2 0 1991 2018
Entrez Id: 6591
Gene Symbol: SNAI2
SNAI2
snail family transcriptional repressor 2 0.505 0.692 0.80
CUI: C0080024
Disease: Piebaldism
Piebaldism
disease 0.730 None 1.000 2 0 1998 2014