HSF4, heat shock transcription factor 4, 3299

N. diseases: 31; N. variants: 10
Disease: CATARACT 5, MULTIPLE TYPES ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3888417
Disease: CATARACT 5, MULTIPLE TYPES
CATARACT 5, MULTIPLE TYPES 		0.800 CausalMutation disease CLINVAR Functional analysis of HSF4 mutations found in patients with autosomal recessive congenital cataracts. 24045990 2013
CUI: C3888417
Disease: CATARACT 5, MULTIPLE TYPES
CATARACT 5, MULTIPLE TYPES 		0.800 Biomarker disease MGD Functional analysis of the Hsf4(lop11) allele responsible for cataracts in lop11 mice. 22162625 2011
CUI: C3888417
Disease: CATARACT 5, MULTIPLE TYPES
CATARACT 5, MULTIPLE TYPES 		0.800 GeneticVariation disease UNIPROT Novel HSF4 mutation causes congenital total white cataract in a Chinese family. 16876512 2006
CUI: C3888417
Disease: CATARACT 5, MULTIPLE TYPES
CATARACT 5, MULTIPLE TYPES 		0.800 GeneticVariation disease UNIPROT Mutant DNA-binding domain of HSF4 is associated with autosomal dominant lamellar and Marner cataract. 12089525 2002
CUI: C3888417
Disease: CATARACT 5, MULTIPLE TYPES
CATARACT 5, MULTIPLE TYPES 		0.800 Biomarker disease GENOMICS_ENGLAND Mutant DNA-binding domain of HSF4 is associated with autosomal dominant lamellar and Marner cataract. 12089525 2002
CUI: C3888417
Disease: CATARACT 5, MULTIPLE TYPES
CATARACT 5, MULTIPLE TYPES 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C3888417
Disease: CATARACT 5, MULTIPLE TYPES
CATARACT 5, MULTIPLE TYPES 		0.800 GeneticVariation disease CLINVAR
CUI: C3888417
Disease: CATARACT 5, MULTIPLE TYPES
CATARACT 5, MULTIPLE TYPES 		0.800 Biomarker disease GENOMICS_ENGLAND