SLC6A3, solute carrier family 6 member 3, 6531

N. diseases: 373; N. variants: 38
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2751067
Disease: Parkinsonism-Dystonia, Infantile
Parkinsonism-Dystonia, Infantile
0.800 GeneticVariation disease CLINVAR
CUI: C2751067
Disease: Parkinsonism-Dystonia, Infantile
Parkinsonism-Dystonia, Infantile
0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C2751067
Disease: Parkinsonism-Dystonia, Infantile
Parkinsonism-Dystonia, Infantile
0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C2751067
Disease: Parkinsonism-Dystonia, Infantile
Parkinsonism-Dystonia, Infantile
0.800 GermlineCausalMutation disease ORPHANET
TOBACCO ADDICTION, SUSCEPTIBILITY TO (finding)
0.500 Biomarker phenotype CTD_human
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.400 Biomarker group HPO
CUI: C3887506
Disease: Hyperkinesia
Hyperkinesia
0.400 Biomarker phenotype HPO
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.310 GeneticVariation disease UNIPROT
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome
0.190 Biomarker disease HPO
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity
0.140 Biomarker phenotype HPO
CUI: C0040822
Disease: Tremor
Tremor
0.140 Biomarker phenotype HPO
CUI: C0233565
Disease: Bradykinesia
Bradykinesia
0.130 Biomarker phenotype HPO
CUI: C0009806
Disease: Constipation
Constipation
0.120 Biomarker phenotype HPO
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
0.100 Biomarker disease HPO
CUI: C0008489
Disease: Chorea
Chorea
0.100 Biomarker phenotype HPO
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease
0.100 Biomarker disease HPO
CUI: C0022107
Disease: Irritable Mood
Irritable Mood
0.100 Biomarker phenotype HPO
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia
0.100 Biomarker phenotype HPO
CUI: C0085637
Disease: Oculogyric crisis
Oculogyric crisis
0.100 Biomarker phenotype HPO
CUI: C0086439
Disease: Hypokinesia
Hypokinesia
0.100 Biomarker phenotype HPO
CUI: C0152115
Disease: Lingual-Facial-Buccal Dyskinesia
Lingual-Facial-Buccal Dyskinesia
0.100 Biomarker disease HPO
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
0.100 Biomarker phenotype HPO
CUI: C0234132
Disease: Pyramidal sign
Pyramidal sign
0.100 Biomarker phenotype HPO
CUI: C0234650
Disease: Ocular flutter
Ocular flutter
0.100 Biomarker phenotype HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.100 Biomarker disease HPO