SLC9A6, solute carrier family 9 member A6, 10479

N. diseases: 210; N. variants: 15
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Mental Retardation, X-Linked, Syndromic, Christianson Type
0.800 Biomarker disease CTD_human
Mental Retardation, X-Linked, Syndromic, Christianson Type
0.800 CausalMutation disease CLINVAR
Mental Retardation, X-Linked, Syndromic, Christianson Type
0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C0025958
Disease: Microcephaly
Microcephaly
0.440 Biomarker disease HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly
0.440 Biomarker disease GENOMICS_ENGLAND
CUI: C0036572
Disease: Seizures
Seizures
0.120 GeneticVariation phenotype CLINVAR
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability
0.120 Biomarker disease HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.120 Biomarker disease HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.120 GeneticVariation disease CLINVAR
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.110 GeneticVariation disease CLINVAR
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.110 Biomarker disease HPO
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
0.110 Biomarker disease HPO
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
0.100 Biomarker disease HPO
CUI: C0006625
Disease: Cachexia
Cachexia
0.100 Biomarker phenotype HPO
CUI: C0008489
Disease: Chorea
Chorea
0.100 GeneticVariation phenotype CLINVAR
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders
0.100 Biomarker group HPO
CUI: C0013132
Disease: Drooling
Drooling
0.100 Biomarker phenotype HPO
CUI: C0013421
Disease: Dystonia
Dystonia
0.100 Biomarker phenotype HPO
CUI: C0014877
Disease: Esotropia
Esotropia
0.100 GeneticVariation disease CLINVAR
CUI: C0015732
Disease: Fecal Incontinence
Fecal Incontinence
0.100 Biomarker disease HPO
CUI: C0016506
Disease: Foot Deformities
Foot Deformities
0.100 Biomarker group HPO
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum
0.100 GeneticVariation disease CLINVAR
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum
0.100 Biomarker disease HPO
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease
0.100 Biomarker disease HPO
CUI: C0025362
Disease: Mental Retardation
Mental Retardation
0.100 CausalMutation disease CLINVAR