Gene: APTX ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 54840
Gene Symbol: APTX
APTX 		0.800 Biomarker disease GENOMICS_ENGLAND Very late onset in ataxia oculomotor apraxia type I. 15852392 2005
Entrez Id: 54840
Gene Symbol: APTX
APTX 		0.800 CausalMutation disease CLINVAR Disease-associated mutations inactivate AMP-lysine hydrolase activity of Aprataxin. 15790557 2005
Entrez Id: 54840
Gene Symbol: APTX
APTX 		0.800 CausalMutation disease CLINVAR Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation. 15699391 2005
Entrez Id: 54840
Gene Symbol: APTX
APTX 		0.800 Biomarker disease BEFREE These results strongly support the possibility that aprataxin and XRCC1 constitute a multiprotein complex and are involved in single-strand DNA break repair, and furthermore, that accumulation of unrepaired damaged DNA underlies the pathophysiological mechanisms of EAOH. 14755728 2004
Entrez Id: 54840
Gene Symbol: APTX
APTX 		0.800 GeneticVariation disease BEFREE The gene mutated in AOA1, APTX, is predicted to code for a protein called aprataxin that contains domains of homology with proteins involved in DNA damage signalling and repair. 15044383 2004
Entrez Id: 54840
Gene Symbol: APTX
APTX 		0.800 GeneticVariation disease BEFREE We identified six new alternative transcripts produced by the aprataxin gene responsible for EAOH. 15276230 2004
Entrez Id: 54840
Gene Symbol: APTX
APTX 		0.800 Biomarker disease BEFREE Aprataxin is therefore physically associated with both the DNA single-strand and double-strand break repair machinery, raising the possibility that AOA1 is a novel DNA damage response-defective disease. 15380105 2004
Entrez Id: 54840
Gene Symbol: APTX
APTX 		0.800 CausalMutation disease CLINVAR Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies. 14506070 2003
Entrez Id: 54840
Gene Symbol: APTX
APTX 		0.800 Biomarker disease GENOMICS_ENGLAND Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies. 14506070 2003
Entrez Id: 54840
Gene Symbol: APTX
APTX 		0.800 GeneticVariation disease UNIPROT Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies. 14506070 2003
Entrez Id: 54840
Gene Symbol: APTX
APTX 		0.800 GeneticVariation disease UNIPROT Phenotypic variability of aprataxin gene mutations. 12629250 2003
Entrez Id: 54840
Gene Symbol: APTX
APTX 		0.800 CausalMutation disease CLINVAR Phenotypic variability of aprataxin gene mutations. 12629250 2003
Entrez Id: 54840
Gene Symbol: APTX
APTX 		0.800 GeneticVariation disease UNIPROT To disclose the clinical features of EAOH and to identify the mutations in the aprataxin gene in six patients in four Japanese families with EAOH. 12196655 2002
Entrez Id: 54840
Gene Symbol: APTX
APTX 		0.800 GeneticVariation disease BEFREE To disclose the clinical features of EAOH and to identify the mutations in the aprataxin gene in six patients in four Japanese families with EAOH. 12196655 2002
Entrez Id: 54840
Gene Symbol: APTX
APTX 		0.800 CausalMutation disease CLINVAR The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin. 11586300 2001
Entrez Id: 54840
Gene Symbol: APTX
APTX 		0.800 Biomarker disease GENOMICS_ENGLAND Recessive ataxia with ocular apraxia: review of 22 Portuguese patients. 11176957 2001
Entrez Id: 54840
Gene Symbol: APTX
APTX 		0.800 GeneticVariation disease UNIPROT The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin. 11586300 2001
Entrez Id: 54840
Gene Symbol: APTX
APTX 		0.800 CausalMutation disease CLINVAR Recessive ataxia with ocular apraxia: review of 22 Portuguese patients. 11176957 2001
Entrez Id: 54840
Gene Symbol: APTX
APTX 		0.800 Biomarker disease BEFREE Subsequently, hypoalbuminemia was found in all five Portuguese patients with AOA1 with a long disease duration, suggesting that AOA1 and EOCA-HA correspond to the same entity that accounts for a significant proportion of all recessive ataxias. 11170899 2001
Entrez Id: 54840
Gene Symbol: APTX
APTX 		0.800 GeneticVariation disease UNIPROT Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene. 11586299 2001
Entrez Id: 54840
Gene Symbol: APTX
APTX 		0.800 GeneticVariation disease BEFREE Ataxia with oculomotor apraxia (ataxia-telangiectasia-like syndrome [AOA]; MIM 208920) is an autosomal recessive disorder characterized by ataxia, oculomotor apraxia, and choreoathetosis. 11022012 2000
Entrez Id: 54840
Gene Symbol: APTX
APTX 		0.800 Biomarker disease CTD_human
Entrez Id: 54840
Gene Symbol: APTX
APTX 		0.800 GeneticVariation disease CLINVAR