rs104894195, AIP

N. diseases: 4
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
PITUITARY ADENOMA 1, MULTIPLE TYPES
CUI: C4538355
Disease: PITUITARY ADENOMA 1, MULTIPLE TYPES
0.700 CausalMutation CLINVAR
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.010 GeneticVariation BEFREE The AIP variants p.R304* and p.R304Q showed impaired interactions with HSPA8, HSP90AB1, NME1 and SOD1; p.R304* also displayed reduced binding to TUBB and TUBB2A, and <i>AIP</i>-mutated tumors showed reduced <i>TUBB2A</i> expression. 29507682 2018
Gigantism
CUI: C0017547
Disease: Gigantism
0.010 GeneticVariation BEFREE In two of them (a 9-year-old girl with gigantism and a young man with symptoms of GH excess since age 14) the c.910C>T (p.Arg304Ter), well-known truncating mutation was identified; in one of these two cases and her identical twin sister, the mutation proved to be a de novo event, since neither of their parents were found to be carriers. 27033541 2016
Acromegaly
CUI: C0001206
Disease: Acromegaly
0.010 GeneticVariation BEFREE After genetic and clinical screening of the family, two R304* carriers were diagnosed with acromegaly. 24423289 2014