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
CUI: C0026884
Disease: Mutism
Mutism 		0.100 Biomarker phenotype HPO
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.100 Biomarker disease HPO
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		0.100 Biomarker phenotype HPO
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 GeneticVariation disease CLINVAR
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		0.100 Biomarker phenotype HPO
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0038271
Disease: Stereotyped Behavior
Stereotyped Behavior 		0.100 Biomarker disease HPO
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		0.100 Biomarker phenotype HPO
CUI: C0038379
Disease: Strabismus
Strabismus 		0.100 Biomarker disease HPO
CUI: C0042024
Disease: Urinary Incontinence
Urinary Incontinence 		0.100 Biomarker phenotype HPO
CUI: C0152421
Disease: Macrotia
Macrotia 		0.100 Biomarker disease HPO
CUI: C0234533
Disease: Generalized seizures
Generalized seizures 		0.100 Biomarker disease HPO
CUI: C0240379
Disease: Open mouth (finding)
Open mouth (finding) 		0.100 Biomarker phenotype HPO
CUI: C0265736
Disease: Congenital anomaly of nose
Congenital anomaly of nose 		0.100 Biomarker disease HPO
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		0.100 Biomarker disease HPO
CUI: C0349588
Disease: Short stature
Short stature 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0399526
Disease: Class III malocclusion
Class III malocclusion 		0.100 Biomarker disease HPO
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		0.100 Biomarker phenotype HPO
CUI: C0424304
Disease: Inappropriate laughter
Inappropriate laughter 		0.100 Biomarker phenotype HPO
CUI: C0426790
Disease: Narrow thorax
Narrow thorax 		0.100 Biomarker phenotype HPO
CUI: C0427190
Disease: Ataxia, Truncal
Ataxia, Truncal 		0.100 Biomarker phenotype HPO
CUI: C0431352
Disease: Secondary microcephaly
Secondary microcephaly 		0.100 GeneticVariation disease CLINVAR
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		0.100 Biomarker phenotype HPO
CUI: C0700201
Disease: Dyssomnias
Dyssomnias 		0.100 Biomarker disease HPO