Disease: Gigantism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0017547
Disease: Gigantism
Gigantism 		0.060 GeneticVariation disease BEFREE We detected chromothripsis-related CNA profiles in two adenoma samples from an AIP mutation-positive patient with acromegaly and a patient with sporadic gigantism. 29474559 2018
CUI: C0017547
Disease: Gigantism
Gigantism 		0.060 GeneticVariation disease BEFREE Patients harboring <i>AIP</i> mutations usually present with somatotropinomas resulting either in gigantism or young-onset acromegaly. 28427099 2017
CUI: C0017547
Disease: Gigantism
Gigantism 		0.060 GeneticVariation disease BEFREE No AIP gene mutation or variant was observed in the sporadic gigantism patient. 25938168 2015
CUI: C0017547
Disease: Gigantism
Gigantism 		0.060 GeneticVariation disease BEFREE The aim of the present study was to evaluate the AIP gene in a patient with gigantism and in her relatives. 24996936 2014
CUI: C0017547
Disease: Gigantism
Gigantism 		0.060 GeneticVariation disease BEFREE Three of the six (50%) acromegaly cases with AIP mutation within the family presented with a macroadenoma and none presented with gigantism. 23743763 2014
CUI: C0017547
Disease: Gigantism
Gigantism 		0.060 GeneticVariation disease BEFREE Gigantism is a particular feature of AIP mutations and occurs in more than one third of affected somatotropinoma patients. 23371967 2013