Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10479
Gene Symbol: SLC9A6
SLC9A6
Mental Retardation, X-Linked, Syndromic, Christianson Type
0.800 CausalMutation CLINVAR

Entrez Id: 10479
Gene Symbol: SLC9A6
SLC9A6
Mental Retardation, X-Linked, Syndromic, Christianson Type
0.800 GeneticVariation CLINVAR SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome. 18342287

2008

Entrez Id: 10479
Gene Symbol: SLC9A6
SLC9A6
CUI: C0036572
Disease: Seizures
Seizures
0.120 GeneticVariation CLINVAR

Entrez Id: 10479
Gene Symbol: SLC9A6
SLC9A6
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.120 GeneticVariation CLINVAR

Entrez Id: 10479
Gene Symbol: SLC9A6
SLC9A6
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.110 GeneticVariation CLINVAR

Entrez Id: 10479
Gene Symbol: SLC9A6
SLC9A6
CUI: C0008489
Disease: Chorea
Chorea
0.100 GeneticVariation CLINVAR

Entrez Id: 10479
Gene Symbol: SLC9A6
SLC9A6
CUI: C0014877
Disease: Esotropia
Esotropia
0.100 GeneticVariation CLINVAR

Entrez Id: 10479
Gene Symbol: SLC9A6
SLC9A6
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum
0.100 GeneticVariation CLINVAR

Entrez Id: 10479
Gene Symbol: SLC9A6
SLC9A6
CUI: C0025362
Disease: Mental Retardation
Mental Retardation
0.100 CausalMutation CLINVAR

Entrez Id: 10479
Gene Symbol: SLC9A6
SLC9A6
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
0.100 GeneticVariation CLINVAR

Entrez Id: 10479
Gene Symbol: SLC9A6
SLC9A6
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances
0.100 GeneticVariation CLINVAR

Entrez Id: 10479
Gene Symbol: SLC9A6
SLC9A6
CUI: C0349588
Disease: Short stature
Short stature
0.100 GeneticVariation CLINVAR

Entrez Id: 10479
Gene Symbol: SLC9A6
SLC9A6
CUI: C0423224
Disease: Sunken eyes
Sunken eyes
0.100 GeneticVariation CLINVAR

Entrez Id: 10479
Gene Symbol: SLC9A6
SLC9A6
CUI: C0431352
Disease: Secondary microcephaly
Secondary microcephaly
0.100 GeneticVariation CLINVAR

Entrez Id: 10479
Gene Symbol: SLC9A6
SLC9A6
CUI: C1843367
Disease: Poor school performance
Poor school performance
0.100 CausalMutation CLINVAR

Entrez Id: 10479
Gene Symbol: SLC9A6
SLC9A6
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger
0.100 GeneticVariation CLINVAR

Entrez Id: 10479
Gene Symbol: SLC9A6
SLC9A6
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
0.100 GeneticVariation CLINVAR

Entrez Id: 10479
Gene Symbol: SLC9A6
SLC9A6
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
0.100 GeneticVariation CLINVAR

Entrez Id: 10479
Gene Symbol: SLC9A6
SLC9A6
CUI: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections
0.100 GeneticVariation CLINVAR

Entrez Id: 10479
Gene Symbol: SLC9A6
SLC9A6
CUI: C4021798
Disease: Impaired use of nonverbal behaviors
Impaired use of nonverbal behaviors
0.100 GeneticVariation CLINVAR

Entrez Id: 10479
Gene Symbol: SLC9A6
SLC9A6
CUI: C4023342
Disease: Gastrostomy tube feeding in infancy
Gastrostomy tube feeding in infancy
0.100 GeneticVariation CLINVAR

Entrez Id: 10479
Gene Symbol: SLC9A6
SLC9A6
CUI: C4024946
Disease: Focal white matter lesions
Focal white matter lesions
0.100 GeneticVariation CLINVAR

Entrez Id: 10479
Gene Symbol: SLC9A6
SLC9A6
CUI: C0025958
Disease: Microcephaly
Microcephaly
0.440 Biomarker HPO

Entrez Id: 10479
Gene Symbol: SLC9A6
SLC9A6
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability
0.120 Biomarker HPO

Entrez Id: 10479
Gene Symbol: SLC9A6
SLC9A6
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.120 Biomarker HPO