HSF4, heat shock transcription factor 4, 3299

N. diseases: 31; N. variants: 10
Disease: Congenital cataract ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.280 GeneticVariation disease BEFREE Germline mutations in heat shock factor 4 (HSF4) cause congenital cataracts. 31786107 2020
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.280 Biomarker disease BEFREE Dysfunction of HSF4 is associated with congenital cataracts. 30316871 2018
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.280 GeneticVariation disease BEFREE No previously reported HSF4 mutations were found in all the congenital cataract families. 30143024 2018
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.280 GeneticVariation disease BEFREE A novel homozygous mutation in HSF4 causing autosomal recessive congenital cataract. 26490182 2016
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.280 GeneticVariation disease BEFREE Functional analysis of HSF4 mutations found in patients with autosomal recessive congenital cataracts. 24045990 2013
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.280 Biomarker disease MGD Functional analysis of the Hsf4(lop11) allele responsible for cataracts in lop11 mice. 22162625 2011
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.280 GeneticVariation disease BEFREE A novel HSF4 gene mutation (p.R405X) causing autosomal recessive congenital cataracts in a large consanguineous family from Pakistan. 19014451 2008
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.280 GeneticVariation disease BEFREE The HSF4 mutations have been reported in four families with autosomal dominant cataracts and, recently, in a single kindred with autosomal recessive congenital cataract. 15959809 2005
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.280 GeneticVariation disease BEFREE A homozygous splice mutation in the HSF4 gene is associated with an autosomal recessive congenital cataract. 15277496 2004