HESX1, HESX homeobox 1, 8820

N. diseases: 143; N. variants: 22
Disease: Septo-Optic Dysplasia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893742
rs104893742
Entrez Id: 8820
Gene Symbol: HESX1
HESX1
CUI: C0338503
Disease:
Septo-Optic Dysplasia 		0.700 GeneticVariation UNIPROT HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism. 17148560 2007
dbSNP: rs104893742
rs104893742
Entrez Id: 8820
Gene Symbol: HESX1
HESX1
CUI: C0338503
Disease:
Septo-Optic Dysplasia 		0.700 GeneticVariation UNIPROT Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia. 11136712 2001