rs1555922391
×
Entrez Id:
8239
Gene Symbol:
USP9X
USP9X
Dysmorphic features
A
0.700
GeneticVariation
CLINVAR
Impact of clinical exomes in neurodevelopmental and neurometabolic disorders.
28688840
2017
rs1555922391
×
Entrez Id:
8239
Gene Symbol:
USP9X
USP9X
Muscle hypotonia
A
0.700
GeneticVariation
CLINVAR
Impact of clinical exomes in neurodevelopmental and neurometabolic disorders.
28688840
2017
rs1555922391
×
Entrez Id:
8239
Gene Symbol:
USP9X
USP9X
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
rs1555922391
×
Entrez Id:
8239
Gene Symbol:
USP9X
USP9X
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
rs1555922391
×
Entrez Id:
8239
Gene Symbol:
USP9X
USP9X
Dysmorphic features
A
0.700
GeneticVariation
CLINVAR
Seizures are regulated by ubiquitin-specific peptidase 9 X-linked (USP9X), a de-ubiquitinase.
25763846
2015
rs1555922391
×
Entrez Id:
8239
Gene Symbol:
USP9X
USP9X
Muscle hypotonia
A
0.700
GeneticVariation
CLINVAR
Seizures are regulated by ubiquitin-specific peptidase 9 X-linked (USP9X), a de-ubiquitinase.
25763846
2015
rs1555922391
×
Entrez Id:
8239
Gene Symbol:
USP9X
USP9X
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
rs1555922391
×
Entrez Id:
8239
Gene Symbol:
USP9X
USP9X
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
rs1555922391
×
Entrez Id:
8239
Gene Symbol:
USP9X
USP9X
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
rs1555922391
×
Entrez Id:
8239
Gene Symbol:
USP9X
USP9X
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
rs587777319
×
Entrez Id:
8239
Gene Symbol:
USP9X
USP9X
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
rs1555917927
×
Entrez Id:
8239
Gene Symbol:
USP9X
USP9X
MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED
C
0.700
CausalMutation
CLINVAR
rs1555930128
×
Entrez Id:
8239
Gene Symbol:
USP9X
USP9X
MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED
T
0.700
CausalMutation
CLINVAR
rs1555932766
×
Entrez Id:
8239
Gene Symbol:
USP9X
USP9X
Pulmonary Stenosis
T
0.700
GeneticVariation
CLINVAR
rs1555932766
×
Entrez Id:
8239
Gene Symbol:
USP9X
USP9X
Nasal bridge wide
T
0.700
GeneticVariation
CLINVAR
rs1555932766
×
Entrez Id:
8239
Gene Symbol:
USP9X
USP9X
MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED
T
0.700
GeneticVariation
CLINVAR
rs1555932766
×
Entrez Id:
8239
Gene Symbol:
USP9X
USP9X
Morphological abnormality of the central nervous system
T
0.700
GeneticVariation
CLINVAR
rs1555932766
×
Entrez Id:
8239
Gene Symbol:
USP9X
USP9X
Atrial Septal Defects
T
0.700
GeneticVariation
CLINVAR
rs1555932766
×
Entrez Id:
8239
Gene Symbol:
USP9X
USP9X
Short palpebral fissure
T
0.700
GeneticVariation
CLINVAR
rs1555932766
×
Entrez Id:
8239
Gene Symbol:
USP9X
USP9X
Biventricular hypertrophy
T
0.700
GeneticVariation
CLINVAR
rs1555932766
×
Entrez Id:
8239
Gene Symbol:
USP9X
USP9X
Orbital separation excessive
T
0.700
GeneticVariation
CLINVAR
rs1555932766
×
Entrez Id:
8239
Gene Symbol:
USP9X
USP9X
Renal cyst
T
0.700
GeneticVariation
CLINVAR
rs1555933969
×
Entrez Id:
8239
Gene Symbol:
USP9X
USP9X
Dysmorphic features
C
0.700
GeneticVariation
CLINVAR
rs1569165417
×
Entrez Id:
8239
Gene Symbol:
USP9X
USP9X
MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED
C
0.700
GeneticVariation
CLINVAR
rs1569165417
×
Entrez Id:
8239
Gene Symbol:
USP9X
USP9X
MENTAL RETARDATION, X-LINKED 99
C
0.700
GeneticVariation
CLINVAR