TRAK1, trafficking kinesin protein 1, 22906

N. diseases: 66; N. variants: 10
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs112912733
rs112912733
Entrez Id: 22906;107986077
Gene Symbol: TRAK1;LOC107986077
TRAK1;LOC107986077
CUI: C0871470
Disease:
Systolic Pressure 		A 0.700 GeneticVariation GWASCAT Trans-ethnic association study of blood pressure determinants in over 750,000 individuals. 30578418 2019
dbSNP: rs1046910
rs1046910
Entrez Id: 22906
Gene Symbol: TRAK1
TRAK1
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		C 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs1553608726
rs1553608726
Entrez Id: 22906
Gene Symbol: TRAK1
TRAK1
CUI: C0026650
Disease:
Movement Disorders 		C 0.700 GeneticVariation CLINVAR Developmental changes in trak-mediated mitochondrial transport in neurons. 28300646 2017
dbSNP: rs1553608726
rs1553608726
Entrez Id: 22906
Gene Symbol: TRAK1
TRAK1
CUI: C0026650
Disease:
Movement Disorders 		C 0.700 GeneticVariation CLINVAR Deleterious variants in TRAK1 disrupt mitochondrial movement and cause fatal encephalopathy. 28364549 2017
dbSNP: rs1868523
rs1868523
Entrez Id: 22906
Gene Symbol: TRAK1
TRAK1
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		A 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs2290134
rs2290134
Entrez Id: 22906
Gene Symbol: TRAK1
TRAK1
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		C 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs3733051
rs3733051
Entrez Id: 22906
Gene Symbol: TRAK1
TRAK1
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		G 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs9311311
rs9311311
Entrez Id: 22906
Gene Symbol: TRAK1
TRAK1
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		G 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs9311311
rs9311311
Entrez Id: 22906
Gene Symbol: TRAK1
TRAK1
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		A 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs1553608726
rs1553608726
Entrez Id: 22906
Gene Symbol: TRAK1
TRAK1
CUI: C0026650
Disease:
Movement Disorders 		C 0.700 GeneticVariation CLINVAR Delineation of the TRAK binding regions of the kinesin-1 motor proteins. 24161670 2013
dbSNP: rs1553608726
rs1553608726
Entrez Id: 22906
Gene Symbol: TRAK1
TRAK1
CUI: C0026650
Disease:
Movement Disorders 		C 0.700 GeneticVariation CLINVAR TRAK/Milton motor-adaptor proteins steer mitochondrial trafficking to axons and dendrites. 23395375 2013
dbSNP: rs1553608726
rs1553608726
Entrez Id: 22906
Gene Symbol: TRAK1
TRAK1
CUI: C0026650
Disease:
Movement Disorders 		C 0.700 GeneticVariation CLINVAR Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. 23603762 2013
dbSNP: rs1553608726
rs1553608726
Entrez Id: 22906
Gene Symbol: TRAK1
TRAK1
CUI: C0026650
Disease:
Movement Disorders 		C 0.700 GeneticVariation CLINVAR Hypertonia-associated protein Trak1 is a novel regulator of endosome-to-lysosome trafficking. 18675823 2008
dbSNP: rs1553608726
rs1553608726
Entrez Id: 22906
Gene Symbol: TRAK1
TRAK1
CUI: C0026650
Disease:
Movement Disorders 		C 0.700 GeneticVariation CLINVAR Trak1 mutation disrupts GABA(A) receptor homeostasis in hypertonic mice. 16380713 2006
dbSNP: rs1553608726
rs1553608726
Entrez Id: 22906
Gene Symbol: TRAK1
TRAK1
CUI: C0026650
Disease:
Movement Disorders 		C 0.700 GeneticVariation CLINVAR GRIF-1 and OIP106, members of a novel gene family of coiled-coil domain proteins: association in vivo and in vitro with kinesin. 15644324 2005
dbSNP: rs1553608726
rs1553608726
Entrez Id: 22906
Gene Symbol: TRAK1
TRAK1
CUI: C0026650
Disease:
Movement Disorders 		C 0.700 GeneticVariation CLINVAR Identification and cloning of a novel family of coiled-coil domain proteins that interact with O-GlcNAc transferase. 12435728 2003
dbSNP: rs1559390743
rs1559390743
Entrez Id: 22906
Gene Symbol: TRAK1
TRAK1
CUI: C4748688
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68 		TC 0.700 CausalMutation CLINVAR
dbSNP: rs1559877920
rs1559877920
Entrez Id: 22906
Gene Symbol: TRAK1
TRAK1
CUI: C4748688
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1559877920
rs1559877920
Entrez Id: 22906
Gene Symbol: TRAK1
TRAK1
CUI: C4748688
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68 		C 0.700 CausalMutation CLINVAR
dbSNP: rs770281448
rs770281448
Entrez Id: 22906
Gene Symbol: TRAK1
TRAK1
CUI: C4748688
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68 		0.700 GeneticVariation UNIPROT