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: 10075
Gene Symbol: HUWE1
HUWE1 		HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 0.534 0.769 1.00
CUI: C1837402
Disease: Flat occiput
Flat occiput 		phenotype 0.100 None 0 1
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		collagen type I alpha 1 chain 0.430 0.808 1.00
CUI: C1837402
Disease: Flat occiput
Flat occiput 		phenotype 0.100 None 0 1
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C1837402
Disease: Flat occiput
Flat occiput 		phenotype 0.100 None 0 2
Entrez Id: 285175
Gene Symbol: UNC80
UNC80 		unc-80 homolog, NALCN channel complex subunit 0.626 0.462 5.2E-02
CUI: C1837402
Disease: Flat occiput
Flat occiput 		phenotype 0.100 None 0 1
Entrez Id: 51633
Gene Symbol: OTUD6B
OTUD6B 		OTU deubiquitinase 6B 0.659 0.538 1.3E-07
CUI: C1837402
Disease: Flat occiput
Flat occiput 		phenotype 0.100 None 0 1