Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777317
rs587777317
Entrez Id: 8239
Gene Symbol: USP9X
USP9X
CUI: C3806746
Disease:
MENTAL RETARDATION, X-LINKED 99 		0.800 GeneticVariation UNIPROT Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth. 24607389 2014
dbSNP: rs587777317
rs587777317
Entrez Id: 8239
Gene Symbol: USP9X
USP9X
CUI: C3806746
Disease:
MENTAL RETARDATION, X-LINKED 99 		A 0.800 CausalMutation CLINVAR
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: C0026827
Disease:
Muscle hypotonia 		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: C0026827
Disease:
Muscle hypotonia 		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 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: C0026827
Disease:
Muscle hypotonia 		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: C0026827
Disease:
Muscle hypotonia 		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: C0026827
Disease:
Muscle hypotonia 		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: 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: rs587777319
rs587777319
Entrez Id: 8239
Gene Symbol: USP9X
USP9X
CUI: C3806746
Disease:
MENTAL RETARDATION, X-LINKED 99 		0.700 GeneticVariation UNIPROT Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth. 24607389 2014
dbSNP: rs1555917927
rs1555917927
Entrez Id: 8239
Gene Symbol: USP9X
USP9X
CUI: C4225416
Disease:
MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1555930128
rs1555930128
Entrez Id: 8239
Gene Symbol: USP9X
USP9X
CUI: C4225416
Disease:
MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1555932766
rs1555932766
Entrez Id: 8239
Gene Symbol: USP9X
USP9X
CUI: C1956257
Disease:
Pulmonary Stenosis 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1555932766
rs1555932766
Entrez Id: 8239
Gene Symbol: USP9X
USP9X
CUI: C1849367
Disease:
Nasal bridge wide 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1555932766
rs1555932766
Entrez Id: 8239
Gene Symbol: USP9X
USP9X
CUI: C4225416
Disease:
MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1555932766
rs1555932766
Entrez Id: 8239
Gene Symbol: USP9X
USP9X
CUI: C4021765
Disease:
Morphological abnormality of the central nervous system 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1555932766
rs1555932766
Entrez Id: 8239
Gene Symbol: USP9X
USP9X
CUI: C0018817
Disease:
Atrial Septal Defects 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1555932766
rs1555932766
Entrez Id: 8239
Gene Symbol: USP9X
USP9X
CUI: C0423112
Disease:
Short palpebral fissure 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1555932766
rs1555932766
Entrez Id: 8239
Gene Symbol: USP9X
USP9X
CUI: C0281788
Disease:
Biventricular hypertrophy 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1555932766
rs1555932766
Entrez Id: 8239
Gene Symbol: USP9X
USP9X
CUI: C0020534
Disease:
Orbital separation excessive 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1555932766
rs1555932766
Entrez Id: 8239
Gene Symbol: USP9X
USP9X
CUI: C3887499
Disease:
Renal cyst 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1555933969
rs1555933969
Entrez Id: 8239
Gene Symbol: USP9X
USP9X
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 GeneticVariation CLINVAR