CRYM, crystallin mu, 1428

N. diseases: 16; N. variants: 3
Disease: DEAFNESS, AUTOSOMAL DOMINANT 40 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4084708
Disease: DEAFNESS, AUTOSOMAL DOMINANT 40
DEAFNESS, AUTOSOMAL DOMINANT 40 		0.700 Biomarker disease CLINGEN Distinct Expression Patterns Of Causative Genes Responsible For Hereditary Progressive Hearing Loss In Non-Human Primate Cochlea. 26915689 2016
CUI: C4084708
Disease: DEAFNESS, AUTOSOMAL DOMINANT 40
DEAFNESS, AUTOSOMAL DOMINANT 40 		0.700 Biomarker disease CLINGEN Deafness gene expression patterns in the mouse cochlea found by microarray analysis. 24676347 2014
CUI: C4084708
Disease: DEAFNESS, AUTOSOMAL DOMINANT 40
DEAFNESS, AUTOSOMAL DOMINANT 40 		0.700 Biomarker disease CLINGEN The localization of proteins encoded by CRYM, KIAA1199, UBA52, COL9A3, and COL9A1, genes highly expressed in the cochlea. 18448257 2008
CUI: C4084708
Disease: DEAFNESS, AUTOSOMAL DOMINANT 40
DEAFNESS, AUTOSOMAL DOMINANT 40 		0.700 Biomarker disease CLINGEN micro-Crystallin as an intracellular 3,5,3'-triiodothyronine holder in vivo. 17264173 2007
CUI: C4084708
Disease: DEAFNESS, AUTOSOMAL DOMINANT 40
DEAFNESS, AUTOSOMAL DOMINANT 40 		0.700 Biomarker disease CLINGEN CRYM mutations cause deafness through thyroid hormone binding properties in the fibrocytes of the cochlea. 16740909 2006
CUI: C4084708
Disease: DEAFNESS, AUTOSOMAL DOMINANT 40
DEAFNESS, AUTOSOMAL DOMINANT 40 		0.700 GeneticVariation disease UNIPROT Identification of CRYM as a candidate responsible for nonsyndromic deafness, through cDNA microarray analysis of human cochlear and vestibular tissues. 12471561 2003
CUI: C4084708
Disease: DEAFNESS, AUTOSOMAL DOMINANT 40
DEAFNESS, AUTOSOMAL DOMINANT 40 		0.700 Biomarker disease CLINGEN Identification of CRYM as a candidate responsible for nonsyndromic deafness, through cDNA microarray analysis of human cochlear and vestibular tissues. 12471561 2003
CUI: C4084708
Disease: DEAFNESS, AUTOSOMAL DOMINANT 40
DEAFNESS, AUTOSOMAL DOMINANT 40 		0.700 Biomarker disease GENOMICS_ENGLAND Purification, molecular cloning, and functional expression of the human nicodinamide-adenine dinucleotide phosphate-regulated thyroid hormone-binding protein. 9328354 1997
CUI: C4084708
Disease: DEAFNESS, AUTOSOMAL DOMINANT 40
DEAFNESS, AUTOSOMAL DOMINANT 40 		0.700 CausalMutation disease CLINVAR
CUI: C4084708
Disease: DEAFNESS, AUTOSOMAL DOMINANT 40
DEAFNESS, AUTOSOMAL DOMINANT 40 		0.700 Biomarker disease CTD_human