IGF1R, insulin like growth factor 1 receptor, 3480

N. diseases: 556; N. variants: 92
Disease: SHORT syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0878684
Disease: SHORT syndrome
SHORT syndrome 		0.010 GeneticVariation disease BEFREE A New Homozygous IGF1R Variant Defines a Clinically Recognizable Incomplete Dominant form of SHORT Syndrome. 26252249 2015