Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553608726
rs1553608726
TRAK1
C 0.700 GeneticVariation CLINVAR Developmental changes in trak-mediated mitochondrial transport in neurons. 28300646

2017
dbSNP: rs1553608726
rs1553608726
TRAK1
C 0.700 GeneticVariation CLINVAR Deleterious variants in TRAK1 disrupt mitochondrial movement and cause fatal encephalopathy. 28364549

2017
dbSNP: rs1553608726
rs1553608726
TRAK1
C 0.700 GeneticVariation CLINVAR Delineation of the TRAK binding regions of the kinesin-1 motor proteins. 24161670

2013
dbSNP: rs1553608726
rs1553608726
TRAK1
C 0.700 GeneticVariation CLINVAR TRAK/Milton motor-adaptor proteins steer mitochondrial trafficking to axons and dendrites. 23395375

2013
dbSNP: rs1553608726
rs1553608726
TRAK1
C 0.700 GeneticVariation CLINVAR Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. 23603762

2013
dbSNP: rs1553608726
rs1553608726
TRAK1
C 0.700 GeneticVariation CLINVAR Hypertonia-associated protein Trak1 is a novel regulator of endosome-to-lysosome trafficking. 18675823

2008
dbSNP: rs1553608726
rs1553608726
TRAK1
C 0.700 GeneticVariation CLINVAR Trak1 mutation disrupts GABA(A) receptor homeostasis in hypertonic mice. 16380713

2006
dbSNP: rs1553608726
rs1553608726
TRAK1
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
TRAK1
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