Disease: MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225416
Disease: MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED
MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED 		0.700 Biomarker disease GENOMICS_ENGLAND De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations. 26833328 2016
CUI: C4225416
Disease: MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED
MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED 		0.700 GermlineCausalMutation disease ORPHANET De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations. 26833328 2016
CUI: C4225416
Disease: MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED
MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth. 24607389 2014
CUI: C4225416
Disease: MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED
MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED 		0.700 Biomarker disease CTD_human
CUI: C4225416
Disease: MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED
MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED 		0.700 GeneticVariation disease CLINVAR
CUI: C4225416
Disease: MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED
MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED 		0.700 CausalMutation disease CLINVAR