Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8925
Gene Symbol: HERC1
HERC1
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 GeneticVariation CLINVAR A splice site mutation in HERC1 leads to syndromic intellectual disability with macrocephaly and facial dysmorphism: Further delineation of the phenotypic spectrum. 27108999

2016