CLIC5, chloride intracellular channel 5, 53405

N. diseases: 11; N. variants: 6
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4015050
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 103
DEAFNESS, AUTOSOMAL RECESSIVE 103 		0.600 Biomarker disease GENOMICS_ENGLAND Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5. 24781754 2015
CUI: C4015050
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 103
DEAFNESS, AUTOSOMAL RECESSIVE 103 		0.600 Biomarker disease CTD_human
CUI: C4015050
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 103
DEAFNESS, AUTOSOMAL RECESSIVE 103 		0.600 CausalMutation disease CLINVAR
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		0.300 Biomarker disease CLINGEN Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5. 24781754 2015
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		0.300 Biomarker disease CLINGEN CLIC5 stabilizes membrane-actin filament linkages at the base of hair cell stereocilia in a molecular complex with radixin, taperin, and myosin VI. 24285636 2014
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		0.300 Biomarker disease CLINGEN The chloride intracellular channel protein CLIC5 is expressed at high levels in hair cell stereocilia and is essential for normal inner ear function. 17021174 2006
CUI: C0018498
Disease: Hair Color
Hair Color 		0.100 GeneticVariation phenotype GWASCAT Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability. 30531825 2018
CUI: C0040420
Disease: Tonometry
Tonometry 		0.100 GeneticVariation phenotype GWASCAT Genome-wide analyses identify 68 new loci associated with intraocular pressure and improve risk prediction for primary open-angle glaucoma. 29785010 2018
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.100 GeneticVariation phenotype GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.100 Biomarker disease HPO
CUI: C4255193
Disease: Bilateral Vestibulopathy
Bilateral Vestibulopathy 		0.100 Biomarker disease HPO
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.010 Biomarker disease BEFREE CLIC5: a novel ETV6 target gene in childhood acute lymphoblastic leukemia. 27540136 2016
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis 		0.010 AlteredExpression disease BEFREE Our data suggest that heightened CLIC5 activity could promote a permissive environment for oxidative stress-induced DNA damage accumulation, and thereby contribute to leukemogenesis. 27540136 2016
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		0.010 Biomarker disease BEFREE In conclusion, our results show that CLIC5 is a novel arNSHI gene involved in progressive hearing impairment, vestibular and possibly mild renal dysfunction in a family of Turkish origin. 24781754 2015
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.010 Biomarker disease BEFREE Further analysis of CLIC5 in 213 arNSHI patients from mostly Dutch and Spanish origin did not reveal any additional pathogenic variants. 24781754 2015