Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28936702
rs28936702
HESX1
0.820 GeneticVariation BEFREE The p.R160C mutation was previously reported in a case with SOD, CPHD and ectopic posterior pituitary (EPP). 27000987

2016
dbSNP: rs28936702
rs28936702
HESX1
0.820 GeneticVariation BEFREE Although HESX1(R160C) has only been shown to be associated with the SOD phenotype in children homozygous for the mutation, HESX1(R160C) can inhibit DNA binding by wild-type HESX1 both in vitro and in vivo in cell culture. 11748154

2001
dbSNP: rs28936702
rs28936702
HESX1
0.820 GeneticVariation UNIPROT Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia. 11136712

2001
dbSNP: rs28936702
rs28936702
HESX1
0.820 GeneticVariation UNIPROT Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse. 9620767

1998
dbSNP: rs28936702
rs28936702
HESX1
A 0.820 CausalMutation CLINVAR