Disease: Dysmorphic features ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555922391
rs1555922391
Entrez Id: 8239
Gene Symbol: USP9X
USP9X
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Impact of clinical exomes in neurodevelopmental and neurometabolic disorders. 28688840 2017
dbSNP: rs1555922391
rs1555922391
Entrez Id: 8239
Gene Symbol: USP9X
USP9X
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations. 26833328 2016
dbSNP: rs1555922391
rs1555922391
Entrez Id: 8239
Gene Symbol: USP9X
USP9X
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Seizures are regulated by ubiquitin-specific peptidase 9 X-linked (USP9X), a de-ubiquitinase. 25763846 2015
dbSNP: rs1555922391
rs1555922391
Entrez Id: 8239
Gene Symbol: USP9X
USP9X
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene panel. 24690944 2014
dbSNP: rs1555922391
rs1555922391
Entrez Id: 8239
Gene Symbol: USP9X
USP9X
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth. 24607389 2014
dbSNP: rs1555933969
rs1555933969
Entrez Id: 8239
Gene Symbol: USP9X
USP9X
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 GeneticVariation CLINVAR