HSF4, heat shock transcription factor 4, 3299

N. diseases: 31; N. variants: 10
Disease: CATARACT, MARNER TYPE ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28937573
rs28937573
Entrez Id: 3299
Gene Symbol: HSF4
HSF4
CUI: C1861821
Disease:
CATARACT, MARNER TYPE 		0.010 GeneticVariation BEFREE Based on the proximity of p.Arg116His to two known mutations in the DNA-binding domain of HSF4, namely, p.Leu114Pro and p.Arg119Cys, which segregate with childhood lamellar cataract, we tested the possibility that this phenotype may have been missed by the ophthalmologist and/or that it did not spread to the visual axis so as to affect vision significantly. 24975927 2014