TH, tyrosine hydroxylase, 7054

N. diseases: 321; N. variants: 71
Disease: Neuroblastoma ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs75183227
rs75183227
Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C0027819
Disease:
Neuroblastoma 		0.010 GeneticVariation BEFREE The cellular distribution of an overexpressed phospho-null mutant, TH1-S31A, was restricted to the soma of neuroblastoma cells, with decreased association with the microsomal fraction, whereas a phospho-mimic mutant, TH1-S31E, was distributed throughout the soma and neurites. 28637871 2017
dbSNP: rs1481318368
rs1481318368
Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C0027819
Disease:
Neuroblastoma 		0.010 GeneticVariation BEFREE We investigated transcriptional changes in neuroblastoma cell lines transfected with either normal or mutant (A30P or A53T) alpha-synuclein using microarrays, with confirmation of selected genes by quantitative RT-PCR. 12716427 2003