. . . . . . . . . . . . "[Substitution of glutamic acid for alanine 1135 in the putative 'catalytic loop' of the tyrosine kinase domain of the human insulin receptor. A mutation that impairs proteolytic processing into subunits and inhibits receptor tyrosine kinase activity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . . "Gene-disease associations manually curated."@en . "DisGeNET evidence - CURATED"@en . "2016-01-25"^^ . "2016-05-13T12:41:53+02:00"^^ . . . . . . . . . . . "v4.0.0.0" . "v4.0.0" .