INS, insulin, 3630

N. diseases: 405; N. variants: 37
Disease: Hyperproinsulinemia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28933985
rs28933985
Entrez Id: 3630;723961
Gene Symbol: INS;INS-IGF2
INS;INS-IGF2
CUI: C0342283
Disease:
Hyperproinsulinemia 		0.840 GeneticVariation 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
dbSNP: rs28933985
rs28933985
Entrez Id: 3630;723961
Gene Symbol: INS;INS-IGF2
INS;INS-IGF2
CUI: C0342283
Disease:
Hyperproinsulinemia 		0.840 GeneticVariation 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
dbSNP: rs28933985
rs28933985
Entrez Id: 3630;723961
Gene Symbol: INS;INS-IGF2
INS;INS-IGF2
CUI: C0342283
Disease:
Hyperproinsulinemia 		0.840 GeneticVariation BEFREE In conclusion, our data demonstrate hyperproinsulinemia in a three-generation Caucasian family due to heterozygous mutant Arg65-->His proinsulin. 8636380 1996
dbSNP: rs28933985
rs28933985
Entrez Id: 3630;723961
Gene Symbol: INS;INS-IGF2
INS;INS-IGF2
CUI: C0342283
Disease:
Hyperproinsulinemia 		0.840 GeneticVariation UNIPROT A novel point mutation in the human insulin gene giving rise to hyperproinsulinemia (proinsulin Kyoto). 1601997 1992
dbSNP: rs28933985
rs28933985
Entrez Id: 3630;723961
Gene Symbol: INS;INS-IGF2
INS;INS-IGF2
CUI: C0342283
Disease:
Hyperproinsulinemia 		0.840 GeneticVariation 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
dbSNP: rs28933985
rs28933985
Entrez Id: 3630;723961
Gene Symbol: INS;INS-IGF2
INS;INS-IGF2
CUI: C0342283
Disease:
Hyperproinsulinemia 		0.840 GeneticVariation 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
dbSNP: rs28933985
rs28933985
Entrez Id: 3630;723961
Gene Symbol: INS;INS-IGF2
INS;INS-IGF2
CUI: C0342283
Disease:
Hyperproinsulinemia 		0.840 GeneticVariation UNIPROT A mutation in the B chain coding region is associated with impaired proinsulin conversion in a family with hyperproinsulinemia. 3470784 1987
dbSNP: rs28933985
rs28933985
Entrez Id: 3630;723961
Gene Symbol: INS;INS-IGF2
INS;INS-IGF2
CUI: C0342283
Disease:
Hyperproinsulinemia 		0.840 GeneticVariation UNIPROT Posttranslational cleavage of proinsulin is blocked by a point mutation in familial hyperproinsulinemia. 4019786 1985
dbSNP: rs28933985
rs28933985
Entrez Id: 3630;723961
Gene Symbol: INS;INS-IGF2
INS;INS-IGF2
CUI: C0342283
Disease:
Hyperproinsulinemia 		G 0.840 CausalMutation CLINVAR
dbSNP: rs28933985
rs28933985
Entrez Id: 3630;723961
Gene Symbol: INS;INS-IGF2
INS;INS-IGF2
CUI: C0342283
Disease:
Hyperproinsulinemia 		T 0.840 CausalMutation CLINVAR
dbSNP: rs28933985
rs28933985
Entrez Id: 3630;723961
Gene Symbol: INS;INS-IGF2
INS;INS-IGF2
CUI: C0342283
Disease:
Hyperproinsulinemia 		A 0.840 CausalMutation CLINVAR
dbSNP: rs121918101
rs121918101
Entrez Id: 3630;723961
Gene Symbol: INS;INS-IGF2
INS;INS-IGF2
CUI: C0342283
Disease:
Hyperproinsulinemia 		0.810 GeneticVariation 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
dbSNP: rs121918101
rs121918101
Entrez Id: 3630;723961
Gene Symbol: INS;INS-IGF2
INS;INS-IGF2
CUI: C0342283
Disease:
Hyperproinsulinemia 		0.810 GeneticVariation UNIPROT A novel point mutation in the human insulin gene giving rise to hyperproinsulinemia (proinsulin Kyoto). 1601997 1992
dbSNP: rs121918101
rs121918101
Entrez Id: 3630;723961
Gene Symbol: INS;INS-IGF2
INS;INS-IGF2
CUI: C0342283
Disease:
Hyperproinsulinemia 		0.810 GeneticVariation 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
dbSNP: rs121918101
rs121918101
Entrez Id: 3630;723961
Gene Symbol: INS;INS-IGF2
INS;INS-IGF2
CUI: C0342283
Disease:
Hyperproinsulinemia 		0.810 GeneticVariation UNIPROT A mutation in the B chain coding region is associated with impaired proinsulin conversion in a family with hyperproinsulinemia. 3470784 1987
dbSNP: rs121918101
rs121918101
Entrez Id: 3630;723961
Gene Symbol: INS;INS-IGF2
INS;INS-IGF2
CUI: C0342283
Disease:
Hyperproinsulinemia 		0.810 GeneticVariation UNIPROT Posttranslational cleavage of proinsulin is blocked by a point mutation in familial hyperproinsulinemia. 4019786 1985
dbSNP: rs121918101
rs121918101
Entrez Id: 3630;723961
Gene Symbol: INS;INS-IGF2
INS;INS-IGF2
CUI: C0342283
Disease:
Hyperproinsulinemia 		C 0.810 CausalMutation CLINVAR
dbSNP: rs121918102
rs121918102
Entrez Id: 3630;723961
Gene Symbol: INS;INS-IGF2
INS;INS-IGF2
CUI: C0342283
Disease:
Hyperproinsulinemia 		A 0.700 CausalMutation CLINVAR
dbSNP: rs148685531
rs148685531
Entrez Id: 3630;723961
Gene Symbol: INS;INS-IGF2
INS;INS-IGF2
CUI: C0342283
Disease:
Hyperproinsulinemia 		C 0.700 CausalMutation CLINVAR
dbSNP: rs80356668
rs80356668
Entrez Id: 3630;723961
Gene Symbol: INS;INS-IGF2
INS;INS-IGF2
CUI: C0342283
Disease:
Hyperproinsulinemia 		G 0.700 CausalMutation CLINVAR
dbSNP: rs121908274
rs121908274
Entrez Id: 3630;723961
Gene Symbol: INS;INS-IGF2
INS;INS-IGF2
CUI: C0342283
Disease:
Hyperproinsulinemia 		0.010 GeneticVariation 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