DDX3X, DEAD-box helicase 3 X-linked, 1654

N. diseases: 180; N. variants: 39
Disease: MENTAL RETARDATION, X-LINKED 102 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4085582
Disease: MENTAL RETARDATION, X-LINKED 102
MENTAL RETARDATION, X-LINKED 102 		0.700 CausalMutation disease CLINVAR Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling. 26235985 2015
CUI: C4085582
Disease: MENTAL RETARDATION, X-LINKED 102
MENTAL RETARDATION, X-LINKED 102 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling. 26235985 2015
CUI: C4085582
Disease: MENTAL RETARDATION, X-LINKED 102
MENTAL RETARDATION, X-LINKED 102 		0.700 Biomarker disease GENOMICS_ENGLAND Large-scale discovery of novel genetic causes of developmental disorders. 25533962 2015
CUI: C4085582
Disease: MENTAL RETARDATION, X-LINKED 102
MENTAL RETARDATION, X-LINKED 102 		0.700 GeneticVariation disease UNIPROT Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling. 26235985 2015
CUI: C4085582
Disease: MENTAL RETARDATION, X-LINKED 102
MENTAL RETARDATION, X-LINKED 102 		0.700 GeneticVariation disease CLINVAR
CUI: C4085582
Disease: MENTAL RETARDATION, X-LINKED 102
MENTAL RETARDATION, X-LINKED 102 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C4085582
Disease: MENTAL RETARDATION, X-LINKED 102
MENTAL RETARDATION, X-LINKED 102 		0.700 Biomarker disease CTD_human