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: rs1238248024
rs1238248024
Entrez Id: 8820
Gene Symbol: HESX1
HESX1
CUI: C0338503
Disease:
Septo-Optic Dysplasia 		G 0.700 GeneticVariation CLINVAR Analysis of mouse models carrying the I26T and R160C substitutions in the transcriptional repressor HESX1 as models for septo-optic dysplasia and hypopituitarism. 19093031 2009
dbSNP: rs1238248024
rs1238248024
Entrez Id: 8820
Gene Symbol: HESX1
HESX1
CUI: C0338503
Disease:
Septo-Optic Dysplasia 		G 0.700 GeneticVariation CLINVAR Molecular effects of novel mutations in Hesx1/HESX1 associated with human pituitary disorders. 11748154 2001
dbSNP: rs1238248024
rs1238248024
Entrez Id: 8820
Gene Symbol: HESX1
HESX1
CUI: C0338503
Disease:
Septo-Optic Dysplasia 		G 0.700 GeneticVariation CLINVAR Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse. 9620767 1998