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: 7403
Gene Symbol: KDM6A
KDM6A 		lysine demethylase 6A 0.498 0.769 1.00
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		disease 0.800 strong 0.970 1 0 2012 2020
Entrez Id: 5906
Gene Symbol: RAP1A
RAP1A 		RAP1A, member of RAS oncogene family 0.502 0.808 0.62
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		disease 0.310 None 1.000 1 0 2015 2015
Entrez Id: 5908
Gene Symbol: RAP1B
RAP1B 		RAP1B, member of RAS oncogene family 0.565 0.769 0.91
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		disease 0.310 None 1.000 1 0 2015 2015