INSR, insulin receptor, 3643

N. diseases: 452; N. variants: 109
Disease: Complement component 5 deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0343047
Disease: Complement component 5 deficiency
Complement component 5 deficiency 		0.010 Biomarker disease BEFREE These changes were not due to the C5 deficiency alone as other C5-deficient models did not recapitulate the INSR processing defect; rather, in addition to the mutation in the <i>C5</i> gene, whole genome sequencing revealed an intronic 31-bp deletion in the <i>Insr</i> gene in the B10.D2-<i>Hc<sup>0</sup> H2<sup>d</sup> H2</i>-<i>T18<sup>c</sup></i>/oSnJ model. 31084499 2019