Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8925
Gene Symbol: HERC1
HERC1
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		0.120 GeneticVariation BEFREE 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
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		0.120 GeneticVariation BEFREE Our data further emphasize the role of the mTOR pathway in the regulation of brain development and the power of next-generation sequencing technique in elucidating the genetic etiology of autosomal-recessive disorders and suggest that HERC1 defect might be a novel cause of autosomal-recessive syndromic megalencephaly. 26153217

2016
Entrez Id: 8925
Gene Symbol: HERC1
HERC1
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		0.120 Biomarker HPO