Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8925
Gene Symbol: HERC1
HERC1
0.100 GeneticVariation disease 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
Entrez Id: 8925
Gene Symbol: HERC1
HERC1
0.100 Biomarker disease HPO