CLIC2, chloride intracellular channel 2, 1193

N. diseases: 39; N. variants: 1
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 32 ×
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