Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.600 Biomarker GENOMICS_ENGLAND Mutation analysis of the JARID1C gene was conducted in the following cohorts: probands from 23 XLMR families linked to Xp11.2, 92 males with mental retardation and short stature, and 172 probands from small XLMR families with no linkage information. 18697827

2008
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.600 Biomarker GENOMICS_ENGLAND We investigated a family of three boys with intellectual disability, and among them we identified two different mutations in KDM5C, located at Xp11.22, using whole-exome sequencing. 26919706

2016
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.600 Biomarker GENOMICS_ENGLAND We investigated a family of three boys with intellectual disability, and among them we identified two different mutations in KDM5C, located at Xp11.22, using whole-exome sequencing. 26919706

2016