INS, insulin, 3630

N. diseases: 405; N. variants: 37
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0342283
Disease: Hyperproinsulinemia
Hyperproinsulinemia
0.700 Biomarker disease BEFREE Proinsulin processing is quite sensitive to nutrient flux, and β-cell-specific deletion of the nutrient-sensing protein modifier OGlcNAc transferase (βOGTKO) causes β-cell failure and diabetes, including early development of hyperproinsulinemia. 31300553 2019
CUI: C0342283
Disease: Hyperproinsulinemia
Hyperproinsulinemia
0.700 Biomarker disease BEFREE Our results reveal the identity of key players that establish a previously unknown link between insulin signaling, translation initiation, and proinsulin processing, and provide previously unidentified mechanistic insight into the development of hyperproinsulinemia in insulin-resistant states. 24843127 2014
CUI: C0342283
Disease: Hyperproinsulinemia
Hyperproinsulinemia
0.700 GeneticVariation disease BEFREE These mutant proinsulin proteins accumulate in the endoplasmic reticulum (ER) and are poorly secreted except for G84R and in contrast to wild-type and hyperproinsulinemia-associated mutant proteins (H34D and R89H) which were sorted to secretory granules and efficiently secreted. 20034470 2010
CUI: C0342283
Disease: Hyperproinsulinemia
Hyperproinsulinemia
0.700 Biomarker disease BEFREE Hyperproinsulinemia and proinsulin-to-insulin ratios in Swedish middle-aged men: association with glycemia and insulin resistance but not with family history of diabetes. 11978587 2002
CUI: C0342283
Disease: Hyperproinsulinemia
Hyperproinsulinemia
0.700 Biomarker disease BEFREE These results show that FDR of NIDDM patients have true hyperinsulinemia (which is not a consequence of cross-reactivity with proinsulin) and hyperproinsulinemia and no dysfunction of a qualitative nature in beta-cells. 10347771 1999
CUI: C0342283
Disease: Hyperproinsulinemia
Hyperproinsulinemia
0.700 GeneticVariation disease BEFREE This study reports a two-generation European-Caucasian family with hyperproinsulinaemia due to a substitution of His for Arg at position 65 in proinsulin, the seventh now identified worldwide and the second from Europe. 9667398 1998
CUI: C0342283
Disease: Hyperproinsulinemia
Hyperproinsulinemia
0.700 GeneticVariation disease BEFREE Hyperproinsulinemia in a three-generation Caucasian family due to mutant proinsulin (Arg65-His) not associated with imparied glucose tolerance: the contribution of mutant proinsulin to insulin bioactivity. 8636380 1996
CUI: C0342283
Disease: Hyperproinsulinemia
Hyperproinsulinemia
0.700 GeneticVariation disease UNIPROT A novel point mutation in the human insulin gene giving rise to hyperproinsulinemia (proinsulin Kyoto). 1601997 1992
CUI: C0342283
Disease: Hyperproinsulinemia
Hyperproinsulinemia
0.700 GeneticVariation disease BEFREE A novel point mutation in the human insulin gene giving rise to hyperproinsulinemia (proinsulin Kyoto). 1601997 1992
CUI: C0342283
Disease: Hyperproinsulinemia
Hyperproinsulinemia
0.700 GeneticVariation disease BEFREE Two unrelated patients with familial hyperproinsulinemia due to a mutation substituting histidine for arginine at position 65 in the proinsulin molecule: identification of the mutation by direct sequencing of genomic deoxyribonucleic acid amplified by polymerase chain reaction. 2196279 1990
CUI: C0342283
Disease: Hyperproinsulinemia
Hyperproinsulinemia
0.700 GeneticVariation disease UNIPROT Two unrelated patients with familial hyperproinsulinemia due to a mutation substituting histidine for arginine at position 65 in the proinsulin molecule: identification of the mutation by direct sequencing of genomic deoxyribonucleic acid amplified by polymerase chain reaction. 2196279 1990
CUI: C0342283
Disease: Hyperproinsulinemia
Hyperproinsulinemia
0.700 GeneticVariation disease UNIPROT 311, 629-634] have recently described a family in which hyperproinsulinemia is inherited in an autosomal dominant pattern, suggesting a structural abnormality in the proinsulin molecule as the basis for this disorder. 3470784 1987
CUI: C0342283
Disease: Hyperproinsulinemia
Hyperproinsulinemia
0.700 GeneticVariation disease BEFREE A mutation in the B chain coding region is associated with impaired proinsulin conversion in a family with hyperproinsulinemia. 3470784 1987
CUI: C0342283
Disease: Hyperproinsulinemia
Hyperproinsulinemia
0.700 Biomarker disease BEFREE Proinsulin radioimmunoassay in the evaluation of insulinomas and familial hyperproinsulinemia. 3023795 1986
CUI: C0342283
Disease: Hyperproinsulinemia
Hyperproinsulinemia
0.700 GeneticVariation disease BEFREE Posttranslational cleavage of proinsulin is blocked by a point mutation in familial hyperproinsulinemia. 4019786 1985
CUI: C0342283
Disease: Hyperproinsulinemia
Hyperproinsulinemia
0.700 GeneticVariation disease UNIPROT Posttranslational cleavage of proinsulin is blocked by a point mutation in familial hyperproinsulinemia. 4019786 1985
CUI: C0342283
Disease: Hyperproinsulinemia
Hyperproinsulinemia
0.700 Biomarker disease BEFREE We conclude that individuals from both cohorts with familial hyperproinsulinemia secret very similar or identical intermediates of proinsulin conversion in which the C-peptide remains attached to the insulin A chain and in which Arg65 has been replaced by another amino acid residue. 6368587 1984
CUI: C0342283
Disease: Hyperproinsulinemia
Hyperproinsulinemia
0.700 Biomarker disease BEFREE These data indicate that familial hyperproinsulinemia proinsulin is normally cleaved at the C-peptide-A-chain linkage site. 288074 1979
CUI: C0342283
Disease: Hyperproinsulinemia
Hyperproinsulinemia
0.700 Biomarker disease CTD_human
CUI: C0342283
Disease: Hyperproinsulinemia
Hyperproinsulinemia
0.700 CausalMutation disease CLINVAR