KDM5C, lysine demethylase 5C, 8242
N. diseases: 119; N. variants: 29
Source: ALL
Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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A | 0.700 | CausalMutation | CLINVAR | Patient Mutations of the Intellectual Disability Gene KDM5C Downregulate Netrin G2 and Suppress Neurite Growth in Neuro2a Cells. | 27421841 | 2016 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | Different X-linked KDM5C mutations in affected male siblings: is maternal reversion error involved? | 26919706 | 2016 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity. | 25666439 | 2015 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations. | 23999528 | 2014 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | KDM5C mutational screening among males with intellectual disability suggestive of X-Linked inheritance and review of the literature. | 24583395 | 2014 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation. | 19826449 | 2010 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | A novel mutation in JARID1CSMCX in a patient with autism spectrum disorder (ASD). | 18203167 | 2008 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia. | 18697827 | 2008 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | The X-linked mental retardation gene SMCX/JARID1C defines a family of histone H3 lysine 4 demethylases. | 17320160 | 2007 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | The histone H3K4 demethylase SMCX links REST target genes to X-linked mental retardation. | 17468742 | 2007 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | Novel JARID1C/SMCX mutations in patients with X-linked mental retardation. | 16541399 | 2006 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation. | 15586325 | 2005 |