CLIC2, chloride intracellular channel 2, 1193

N. diseases: 39; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3550913
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 32
MENTAL RETARDATION, X-LINKED, SYNDROMIC 32 		0.700 Biomarker disease GENOMICS_ENGLAND Clinical characterization of int22h1/int22h2-mediated Xq28 duplication/deletion: new cases and literature review. 25927380 2015
CUI: C3550913
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 32
MENTAL RETARDATION, X-LINKED, SYNDROMIC 32 		0.700 GeneticVariation disease UNIPROT An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity. 22814392 2012
CUI: C3550913
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 32
MENTAL RETARDATION, X-LINKED, SYNDROMIC 32 		0.700 Biomarker disease GENOMICS_ENGLAND An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity. 22814392 2012
CUI: C3550913
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 32
MENTAL RETARDATION, X-LINKED, SYNDROMIC 32 		0.700 GermlineCausalMutation disease ORPHANET An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity. 22814392 2012
CUI: C3550913
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 32
MENTAL RETARDATION, X-LINKED, SYNDROMIC 32 		0.700 Biomarker disease CTD_human
CUI: C3550913
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 32
MENTAL RETARDATION, X-LINKED, SYNDROMIC 32 		0.700 CausalMutation disease CLINVAR
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental 		0.300 Biomarker disease CTD_human Systems level analysis and identification of pathways and networks associated with liver fibrosis. 25380136 2014
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.110 GeneticVariation disease BEFREE Utilizing exome capture and deep sequencing of genes on the X-chromosome, we have identified a mutation in CLIC2 (c.303C>G, p.H101Q) which is associated with X-linked intellectual disability (ID), atrial fibrillation, cardiomegaly, congestive heart failure (CHF), some somatic features and seizures. 22814392 2012
CUI: C0036572
Disease: Seizures
Seizures 		0.110 Biomarker phenotype BEFREE Since the dysfunction of RyR2 channels in the brain via 'leaky mutations' can result in mild developmental delay and seizures, our data also suggest a vital role for the CLIC2 protein in maintaining normal cognitive function via its interaction with RyRs in the brain. 22814392 2012
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.110 Biomarker disease HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.110 Biomarker phenotype HPO
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis 		0.100 Biomarker disease HPO
CUI: C0004239
Disease: Atrial Flutter
Atrial Flutter 		0.100 Biomarker phenotype HPO
CUI: C0018800
Disease: Cardiomegaly
Cardiomegaly 		0.100 Biomarker phenotype HPO
CUI: C0026266
Disease: Mitral Valve Insufficiency
Mitral Valve Insufficiency 		0.100 Biomarker phenotype HPO
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
Mitral Valve Prolapse Syndrome 		0.100 Biomarker disease HPO
CUI: C0040961
Disease: Tricuspid Valve Insufficiency
Tricuspid Valve Insufficiency 		0.100 Biomarker disease HPO
CUI: C0152421
Disease: Macrotia
Macrotia 		0.100 Biomarker disease HPO
CUI: C0240543
Disease: Bulbous nose
Bulbous nose 		0.100 Biomarker phenotype HPO
CUI: C0241442
Disease: Protrusion of tongue
Protrusion of tongue 		0.100 Biomarker phenotype HPO
CUI: C0345392
Disease: Congenital kyphoscoliosis
Congenital kyphoscoliosis 		0.100 Biomarker disease HPO
CUI: C0399526
Disease: Class III malocclusion
Class III malocclusion 		0.100 Biomarker disease HPO
CUI: C0426970
Disease: Spastic Quadriplegia
Spastic Quadriplegia 		0.100 Biomarker disease HPO
CUI: C0427149
Disease: Gait, Drop Foot
Gait, Drop Foot 		0.100 Biomarker phenotype HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker disease HPO