Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
0.910 GeneticVariation disease BEFREE Mutations in <i>KDM5C</i> cause Mental Retardation, X-linked, Syndromic, Claes-Jensen type (MRXSCJ, OMIM #300534) and are one of the most common causes of X-linked ID. 29670509 2018
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
0.910 Biomarker disease MGD A Mouse Model of X-linked Intellectual Disability Associated with Impaired Removal of Histone Methylation. 26804915 2016
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
0.910 Biomarker disease GENOMICS_ENGLAND Different X-linked KDM5C mutations in affected male siblings: is maternal reversion error involved? 26919706 2016
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
0.910 Biomarker disease GENOMICS_ENGLAND Different X-linked KDM5C mutations in affected male siblings: is maternal reversion error involved? 26919706 2016
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
0.910 GeneticVariation disease UNIPROT Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity. 25666439 2015
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
0.910 GeneticVariation disease CLINVAR Multilocus loss of DNA methylation in individuals with mutations in the histone H3 lysine 4 demethylase KDM5C. 23356856 2013
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
0.910 GeneticVariation disease UNIPROT Multilocus loss of DNA methylation in individuals with mutations in the histone H3 lysine 4 demethylase KDM5C. 23356856 2013
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
0.910 Biomarker disease GENOMICS_ENGLAND Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia. 18697827 2008
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
0.910 GeneticVariation disease UNIPROT The histone H3K4 demethylase SMCX links REST target genes to X-linked mental retardation. 17468742 2007
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
0.910 GeneticVariation disease UNIPROT The X-linked mental retardation gene SMCX/JARID1C defines a family of histone H3 lysine 4 demethylases. 17320160 2007
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
0.910 GeneticVariation disease UNIPROT A novel mutation in JARID1C gene associated with mental retardation. 16538222 2006
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
0.910 GeneticVariation disease UNIPROT Novel JARID1C/SMCX mutations in patients with X-linked mental retardation. 16541399 2006
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
0.910 GermlineCausalMutation disease ORPHANET Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation. 15586325 2005
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
0.910 GeneticVariation disease UNIPROT Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation. 15586325 2005
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
0.910 Biomarker disease GENOMICS_ENGLAND Novel syndromic form of X-linked complicated spastic paraplegia. 10982473 2000
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
0.910 Biomarker disease CTD_human
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
0.910 CausalMutation disease CLINVAR