Source: CURATED ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9254
Gene Symbol: CACNA2D2
CACNA2D2 		0.510 Biomarker phenotype GENOMICS_ENGLAND The Cacna2d2(tm1NCIF) null phenotype has much in common with that of Cacna1a mutants, such as cerebellar neuro-degeneration associated with ataxia, seizures, and premature death. 15331424 2004
Entrez Id: 9254
Gene Symbol: CACNA2D2
CACNA2D2 		0.510 Biomarker phenotype CTD_human entla, a novel epileptic and ataxic Cacna2d2 mutant of the mouse. 14660671 2004
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		0.500 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: 4864
Gene Symbol: NPC1
NPC1 		0.460 Biomarker phenotype CTD_human An unusual presentation of copper metabolism disorder and a possible connection with Niemann-Pick type C. 21273508 2011
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A 		0.450 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: 22
Gene Symbol: ABCB7
ABCB7 		0.430 Biomarker phenotype CTD_human Mitochondria in hematopoiesis and hematological diseases. 16892088 2006
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		0.430 Biomarker phenotype CTD_human Autosomal dominant glut-1 deficiency syndrome and familial epilepsy. 11603379 2001
Entrez Id: 10464
Gene Symbol: PIBF1
PIBF1 		0.400 Biomarker phenotype GENOMICS_ENGLAND An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes. 26167768 2015
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A 		0.400 Biomarker phenotype GENOMICS_ENGLAND Exome sequencing in undiagnosed inherited and sporadic ataxias. 25497598 2015
Entrez Id: 348980
Gene Symbol: HCN1
HCN1 		0.400 Biomarker phenotype CTD_human In this study we showed that the motor coordination impairment observed in HCN1-/- mice is paralleled by a decline of GABA content in the cerebellum. 19747469 2009
Entrez Id: 131669
Gene Symbol: UROC1
UROC1 		0.400 Biomarker phenotype CTD_human This report describes the first putative mutations, p.L70P and p.R450C, in the coding region of the UROC1 gene in a girl with urocanic aciduria presenting with mental retardation and intermittent ataxia. 19304569 2009
Entrez Id: 1356
Gene Symbol: CP
CP 		0.400 Biomarker phenotype CTD_human Aceruloplasminemia, an inherited disorder of iron metabolism. 12572680 2003
Entrez Id: 2554
Gene Symbol: GABRA1
GABRA1 		0.400 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: 10382
Gene Symbol: TUBB4A
TUBB4A 		0.400 Biomarker phenotype GENOMICS_ENGLAND
Entrez Id: 6657
Gene Symbol: SOX2
SOX2 		0.320 Biomarker phenotype CTD_human Our results define a role for Sox2 in cerebellar function and development, and identify a functional requirement for Sox2 within postnatal BG, of potential relevance for ataxia in mouse mutants, and in human patients. 29732603 2018
Entrez Id: 785
Gene Symbol: CACNB4
CACNB4 		0.320 Biomarker phenotype CTD_human To determine the role of the calcium-channel beta4-subunit gene CACNB4 on chromosome 2q22-23 in related human disorders, we screened for mutations in small pedigrees with familial epilepsy and ataxia. 10762541 2000
Entrez Id: 9698
Gene Symbol: PUM1
PUM1 		0.310 Biomarker phenotype GENOMICS_ENGLAND PUM1 haploinsufficiency is associated with syndromic neurodevelopmental delay and epilepsy. 31859446 2020
Entrez Id: 1173
Gene Symbol: AP2M1
AP2M1 		0.300 Biomarker phenotype GENOMICS_ENGLAND A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy. 31104773 2019
Entrez Id: 10531
Gene Symbol: PITRM1
PITRM1 		0.300 Biomarker phenotype GENOMICS_ENGLAND Functional requirement for human pitrilysin metallopeptidase 1 arginine 183, mutated in amyloidogenic neuropathy. 29383861 2018
Entrez Id: 10730
Gene Symbol: YME1L1
YME1L1 		0.300 Biomarker phenotype GENOMICS_ENGLAND Loss of Mitochondrial AAA Proteases AFG3L2 and YME1L Impairs Mitochondrial Structure and Respiratory Chain Biogenesis. 30544562 2018
Entrez Id: 54936
Gene Symbol: ADPRS
ADPRS 		0.300 Biomarker phenotype GENOMICS_ENGLAND Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome. 30100084 2018
Entrez Id: 3098
Gene Symbol: HK1
HK1 		0.300 Biomarker phenotype GENOMICS_ENGLAND Prevalence and architecture of de novo mutations in developmental disorders. 28135719 2017
Entrez Id: 5917
Gene Symbol: RARS1
RARS1 		0.300 Biomarker phenotype GENOMICS_ENGLAND Mutations in RARS cause hypomyelination. 24777941 2014
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: 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