Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 131669
Gene Symbol: UROC1
UROC1 		0.400 Biomarker phenotype CTD_human Mutations in the urocanase gene UROC1 are associated with urocanic aciduria. 19304569 2009
Entrez Id: 785
Gene Symbol: CACNB4
CACNB4 		0.400 Biomarker phenotype CTD_human Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia. 10762541 2000
Entrez Id: 785
Gene Symbol: CACNB4
CACNB4 		0.400 Biomarker phenotype HPO
Entrez Id: 131669
Gene Symbol: UROC1
UROC1 		0.400 Biomarker phenotype HPO
Entrez Id: 6657
Gene Symbol: SOX2
SOX2 		0.300 Biomarker phenotype CTD_human Sox2 conditional mutation in mouse causes ataxic symptoms, cerebellar vermis hypoplasia, and postnatal defects of Bergmann glia. 29732603 2018
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A 		0.300 Biomarker phenotype CTD_human Prenatal treatment of mosaic mice (Atp7a mo-ms) mouse model for Menkes disease, with copper combined by dimethyldithiocarbamate (DMDTC). 22815746 2012
Entrez Id: 4864
Gene Symbol: NPC1
NPC1 		0.300 Biomarker phenotype CTD_human An unusual presentation of copper metabolism disorder and a possible connection with Niemann-Pick type C. 21273508 2011
Entrez Id: 372
Gene Symbol: ARCN1
ARCN1 		0.300 Biomarker phenotype CTD_human Mutation in archain 1, a subunit of COPI coatomer complex, causes diluted coat color and Purkinje cell degeneration. 20502676 2010
Entrez Id: 348980
Gene Symbol: HCN1
HCN1 		0.300 Biomarker phenotype CTD_human Gabapentin treatment improves motor coordination in a mice model of progressive ataxia. 19747469 2009
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A 		0.300 Biomarker phenotype CTD_human The ataxia3 mutation in the N-terminal cytoplasmic domain of sodium channel Na(v)1.6 disrupts intracellular trafficking. 19261867 2009
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		0.300 Biomarker phenotype CTD_human Forward genetic screen of mouse reveals dominant missense mutation in the P/Q-type voltage-dependent calcium channel, CACNA1A. 17376154 2007
Entrez Id: 22
Gene Symbol: ABCB7
ABCB7 		0.300 Biomarker phenotype CTD_human Mitochondria in hematopoiesis and hematological diseases. 16892088 2006
Entrez Id: 1960
Gene Symbol: EGR3
EGR3 		0.300 Biomarker phenotype CTD_human Egr3 stimulation of GABRA4 promoter activity as a mechanism for seizure-induced up-regulation of GABA(A) receptor alpha4 subunit expression. 16091474 2005
Entrez Id: 2557
Gene Symbol: GABRA4
GABRA4 		0.300 Biomarker phenotype CTD_human Egr3 stimulation of GABRA4 promoter activity as a mechanism for seizure-induced up-regulation of GABA(A) receptor alpha4 subunit expression. 16091474 2005
Entrez Id: 9254
Gene Symbol: CACNA2D2
CACNA2D2 		0.300 Biomarker phenotype CTD_human entla, a novel epileptic and ataxic Cacna2d2 mutant of the mouse. 14660671 2004
Entrez Id: 1356
Gene Symbol: CP
CP 		0.300 Biomarker phenotype CTD_human Aceruloplasminemia, an inherited disorder of iron metabolism. 12572680 2003
Entrez Id: 2554
Gene Symbol: GABRA1
GABRA1 		0.300 Biomarker phenotype CTD_human Selective antagonism of the ataxic effects of zolpidem and triazolam by the GABAA/alpha1-preferring antagonist beta-CCt in squirrel monkeys. 12404077 2002
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		0.300 Biomarker phenotype CTD_human Autosomal dominant glut-1 deficiency syndrome and familial epilepsy. 11603379 2001
Entrez Id: 4287
Gene Symbol: ATXN3
ATXN3 		0.110 AlteredExpression phenotype BEFREE This study involved the clinical response of lamotrigine (LTG) on six MJD patients with early truncal ataxia and the effect of LTG on the alteration of ataxin-3 expression in the transformed MJD lymphoblastoid cells. 15876340 2005
Entrez Id: 4287
Gene Symbol: ATXN3
ATXN3 		0.110 Biomarker phenotype HPO
Entrez Id: 5192
Gene Symbol: PEX10
PEX10 		0.100 Biomarker phenotype HPO
Entrez Id: 84504
Gene Symbol: NKX6-2
NKX6-2 		0.100 Biomarker phenotype HPO
Entrez Id: 55129
Gene Symbol: ANO10
ANO10 		0.100 Biomarker phenotype HPO
Entrez Id: 7436
Gene Symbol: VLDLR
VLDLR 		0.100 Biomarker phenotype HPO
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1 		0.100 Biomarker phenotype HPO