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: 4297
Gene Symbol: KMT2A
KMT2A 		lysine methyltransferase 2A 0.410 0.885 1.00
CUI: C0022738
Disease: Klippel-Feil Syndrome
Klippel-Feil Syndrome 		disease 0.100 None 0 1
Entrez Id: 4621
Gene Symbol: MYH3
MYH3 		myosin heavy chain 3 0.563 0.654 6.7E-21
CUI: C0022738
Disease: Klippel-Feil Syndrome
Klippel-Feil Syndrome 		disease 0.100 None 0 2
Entrez Id: 6909
Gene Symbol: TBX2
TBX2 		T-box transcription factor 2 0.544 0.769 0.99
CUI: C0022738
Disease: Klippel-Feil Syndrome
Klippel-Feil Syndrome 		disease 0.100 None 0 1
Entrez Id: 84700
Gene Symbol: MYO18B
MYO18B 		myosin XVIIIB 0.628 0.615 1.0E-31
CUI: C0022738
Disease: Klippel-Feil Syndrome
Klippel-Feil Syndrome 		disease 0.100 None 0 1