Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 54840
Gene Symbol: APTX
APTX
0.140 Biomarker disease LHGDN Aprataxin (APTX) gene mutations resembling multiple system atrophy. 17049295 2007
Entrez Id: 54840
Gene Symbol: APTX
APTX
0.140 GeneticVariation disease BEFREE It is concluded that autosomal recessive inheritance seems the most likely explanation here, as recent studies have found insertion and missense mutations of the aprataxin gene which have been related to an early onset form of ataxia with ocular motor apraxia and hypoalbuminaemia. 15174536 2004
Entrez Id: 54840
Gene Symbol: APTX
APTX
0.140 Biomarker disease BEFREE Ataxia with ocular motor apraxia type 1 (AOA1) is an autosomal recessive cerebellar ataxia (ARCA) associated with oculomotor apraxia, hypoalbuminaemia and hypercholesterolaemia. 14506070 2003
Entrez Id: 54840
Gene Symbol: APTX
APTX
0.140 GeneticVariation disease BEFREE Early-onset ataxia with hypoalbuminemia and ataxia with ocular motor apraxia have been considered as the same clinical entity because of the recent identification of a common mutation in the aprataxin gene. 12196655 2002
Entrez Id: 54840
Gene Symbol: APTX
APTX
0.140 Biomarker disease HPO