Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8395
Gene Symbol: PIP5K1B
PIP5K1B
0.040 PosttranslationalModification disease BEFREE Cis-silencing of PIP5K1B evidenced in Friedreich's ataxia patient cells results in cytoskeleton anomalies. 23552101 2013
Entrez Id: 8395
Gene Symbol: PIP5K1B
PIP5K1B
0.040 Biomarker disease BEFREE "Frataxin fracas" were the words used when referring to the frataxin-encoding gene (FXN) burst in as a motive to disqualify an alternative candidate gene, PIP5K1B, as an actor in Friedreich's ataxia (FRDA) (Campuzano et al., 1996; Cossee et al., 1997; Carvajal et al., 1996). 24194977 2013
Entrez Id: 8395
Gene Symbol: PIP5K1B
PIP5K1B
0.040 GeneticVariation disease BEFREE We have recently presented data indicating that several splice variants of STM7 incorporate elements of the X25 sequence, previously implicated in the pathogenesis of Friedreich's ataxia by the detection of an intronic GAA repeat expansion as the predominant mutation in affected individuals. 9177790 1997
Entrez Id: 8395
Gene Symbol: PIP5K1B
PIP5K1B
0.040 Biomarker disease BEFREE The STM7 gene on chromosome 9 was recently 'excluded' as a candidate for Friedreich's ataxia following the identification of an expanded intronic GAA triplet repeat in the adjacent gene, X25, in patients with the disease. 8841185 1996