Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4747621
Disease: PARKINSONISM-DYSTONIA, INFANTILE, 1
PARKINSONISM-DYSTONIA, INFANTILE, 1
0.600 Biomarker disease GENOMICS_ENGLAND Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood. 24613933 2014
CUI: C4747621
Disease: PARKINSONISM-DYSTONIA, INFANTILE, 1
PARKINSONISM-DYSTONIA, INFANTILE, 1
0.600 Biomarker disease GENOMICS_ENGLAND Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood. 24613933 2014
CUI: C4747621
Disease: PARKINSONISM-DYSTONIA, INFANTILE, 1
PARKINSONISM-DYSTONIA, INFANTILE, 1
0.600 CausalMutation disease CLINVAR Genetic mapping and exome sequencing identify variants associated with five novel diseases. 22279524 2012
CUI: C4747621
Disease: PARKINSONISM-DYSTONIA, INFANTILE, 1
PARKINSONISM-DYSTONIA, INFANTILE, 1
0.600 Biomarker disease GENOMICS_ENGLAND Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study. 21112253 2011
CUI: C4747621
Disease: PARKINSONISM-DYSTONIA, INFANTILE, 1
PARKINSONISM-DYSTONIA, INFANTILE, 1
0.600 GeneticVariation disease UNIPROT Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia. 19478460 2009
CUI: C4747621
Disease: PARKINSONISM-DYSTONIA, INFANTILE, 1
PARKINSONISM-DYSTONIA, INFANTILE, 1
0.600 Biomarker disease GENOMICS_ENGLAND Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia. 19478460 2009