INSR, insulin receptor, 3643

N. diseases: 452; N. variants: 109
Disease: Medullary sponge kidney ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0022681
Disease: Medullary sponge kidney
Medullary sponge kidney 		0.010 GeneticVariation disease BEFREE A case of Rabson-Mendenhall syndrome with a novel mutation in the tyrosine kinase domain of the insulin receptor gene complicated by medullary sponge kidney. 22876563 2012