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 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
Mental Retardation, X-Linked, Syndromic, Christianson Type
0.800 CausalMutation 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: C0036572
Disease: Seizures
Seizures
0.120 GeneticVariation CLINVAR

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

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: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.110 Biomarker HPO

Entrez Id: 10479
Gene Symbol: SLC9A6
SLC9A6
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
0.110 Biomarker HPO

Entrez Id: 10479
Gene Symbol: SLC9A6
SLC9A6
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
0.100 Biomarker HPO

Entrez Id: 10479
Gene Symbol: SLC9A6
SLC9A6
CUI: C0006625
Disease: Cachexia
Cachexia
0.100 Biomarker HPO

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

Entrez Id: 10479
Gene Symbol: SLC9A6
SLC9A6
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders
0.100 Biomarker HPO

Entrez Id: 10479
Gene Symbol: SLC9A6
SLC9A6
CUI: C0013132
Disease: Drooling
Drooling
0.100 Biomarker HPO

Entrez Id: 10479
Gene Symbol: SLC9A6
SLC9A6
CUI: C0013421
Disease: Dystonia
Dystonia
0.100 Biomarker HPO

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

Entrez Id: 10479
Gene Symbol: SLC9A6
SLC9A6
CUI: C0015732
Disease: Fecal Incontinence
Fecal Incontinence
0.100 Biomarker HPO

Entrez Id: 10479
Gene Symbol: SLC9A6
SLC9A6
CUI: C0016506
Disease: Foot Deformities
Foot Deformities
0.100 Biomarker HPO

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: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum
0.100 Biomarker HPO

Entrez Id: 10479
Gene Symbol: SLC9A6
SLC9A6
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease
0.100 Biomarker HPO

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: C0026884
Disease: Mutism
Mutism
0.100 Biomarker HPO

Entrez Id: 10479
Gene Symbol: SLC9A6
SLC9A6
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.100 Biomarker HPO