Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME
0.300 Biomarker disease CLINGEN Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia. 18697827 2008
PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME
0.300 Biomarker disease CLINGEN A Mouse Model of X-linked Intellectual Disability Associated with Impaired Removal of Histone Methylation. 26804915 2016
PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME
0.300 Biomarker disease CLINGEN Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation. 15586325 2005