|
3,002
|
| 27345 |
INS
|
|
affects_activity of
|
Diabetes mellitus, permanent neonatal, 4
|
|
| 27346 |
INS rs121908278
|
|
increases_activity of
|
MODY, type X
|
the effective allele is T (Cys)
|
| 27351 |
INS rs121908278
|
|
increases_activity of
|
Diabetes mellitus, type II
|
the effective allele is T (Cys)
|
| 131815 |
INS
|
|
affects_activity of
|
Diabetes mellitus, type II
|
|
|
18162506
|
Diabetes mellitus, type II
Diabetes mellitus, permanent neonatal
Insulin resistance
MODY, type X
|
|
3,003
|
| 27348 |
INS rs121908260
|
|
increases_activity of
|
MODY, type X
|
the effective allele is A (Gln)
|
| 117228 |
INS
|
|
affects_activity of
|
MODY, type X
|
|
| 131761 |
INS
|
|
affects_activity of
|
Diabetes mellitus, type I, 2
|
the effective allele is T (Cys)
|
|
18192540
|
Diabetes mellitus, type II
Diabetes mellitus, type I
Insulin resistance
MODY, type X
|
|
3,004
|
| 27354 |
INS rs121908259
|
|
increases_activity of
|
MODY, type X
|
the effective allele is A (His)
|
| 53277 |
INS rs121908260
|
|
increases_activity of
|
MODY, type X
|
the effective allele is A (Gln)
|
|
20226046
|
Diabetes mellitus, type II
Insulin resistance
MODY, type X
|
|
11,916
|
| 117229 |
INS
|
|
affects_activity of
|
Hyperproinsulinemia
|
|
|
9141561
|
Hyperproinsulinemia
|
|
13,888
|
| 131184 |
INS
|
|
affects_activity of
|
MODY, type X
|
|
| 131185 |
MODY, type X
|
|
increases_quantity of
|
Proinsulin
|
|
| 131186 |
MODY, type X
|
|
decreases_activity of
|
NF-kappaB complex
|
|
| 131187 |
MODY, type X
|
|
increases_activity of
|
response to endoplasmic reticulum stress
|
|
| 131188 |
MODY, type X
|
|
increases_activity of
|
endoplasmic reticulum unfolded protein response
|
|
| 131189 |
MODY, type X
|
|
increases_activity of
|
decreased pancreatic beta cell mass
|
|
|
33292863
|
MODY
|
|
13,933
|
| 131660 |
INS rs121908259
|
|
increases_activity of
|
MODY, type X
|
|
| 131661 |
INS-p.A23Qfs
|
|
increases_activity of
|
MODY, type X
|
|
| 131662 |
INS rs139264769
|
|
increases_activity of
|
MODY, type X
|
|
|
31595705
|
MODY
|
|
13,937
|
| 131762 |
INS-p.Q78fs
|
|
increases_activity of
|
MODY, type X
|
|
| 131763 |
INS-c.188-31G>A
|
|
increases_activity of
|
MODY, type X
|
|
|
25721872
|
MODY, type X
|
|
13,938
|
| 131764 |
INS-c.188-31G>A
|
|
increases_activity of
|
Diabetes mellitus, permanent neonatal, 4
|
|
| 131765 |
INS-c.188-31G>A
|
|
decreases_activity of
|
protein folding
|
|
| 131766 |
INS-c.188-31G>A
|
|
affects_folding of
|
INS
|
|
|
22235272
|
Diabetes mellitus, permanent neonatal, 4
|
|
13,939
|
| 131767 |
INS-p.Y103X
|
|
increases_activity of
|
MODY, type X
|
|
|
33194056
|
MODY, type X
|
|
13,943
|
| 131788 |
INS rs535989053
|
|
increases_activity of
|
MODY, type X
|
|
| 131809 |
INS rs535989053
|
|
decreases_activity of
|
signal peptide processing
|
in HEK293T cells
|
| 131810 |
INS rs535989053
|
|
increases_activity of
|
response to endoplasmic reticulum stress
|
|
| 131811 |
INS rs535989053
|
|
decreases_quantity of
|
Proinsulin
|
in HEK293T cells
|
| 131813 |
signal peptide processing
|
|
decreases_quantity of
|
Preproinsulin
|
in HEK293T cells
|
| 131814 |
signal peptide processing
|
|
increases_quantity of
|
Proinsulin
|
in HEK293T cells
|
|
32405973
|
MODY, type X
|
|
13,944
|
| 131812 |
INS rs535989053
|
|
decreases_activity of
|
insulin secretion involved in cellular response to glucose stimulus
|
in INS-1 cells
|
|
32405973
|
MODY, type X
|
|
13,945
|
| 131816 |
INS rs535989053
|
|
increases_quantity of
|
Preproinsulin
|
in endoplasmic reticulum, in INS-1E cells
|
| 131817 |
INS rs535989053
|
|
increases_activity of
|
response to endoplasmic reticulum stress
|
in INS-1E cells
|
| 131818 |
INS rs535989053
|
|
increases_activity of
|
endoplasmic reticulum unfolded protein response
|
in INS-1E cells
|
|
28992123
|
MODY, type X
|
|
13,946
|
| 131828 |
INS-p.L30M
|
|
increases_activity of
|
MODY, type X
|
|
| 131829 |
INS rs121908261
|
|
increases_activity of
|
MODY, type X
|
|
| 131830 |
INS rs121908259
|
|
increases_activity of
|
MODY, type X
|
|
| 131831 |
INS-p.L30M
|
|
decreases_activity of
|
insulin secretion involved in cellular response to glucose stimulus
|
|
| 131832 |
INS-p.L30M
|
|
increases_activity of
|
response to endoplasmic reticulum stress
|
in HEK293 cells
|
| 131833 |
INS-p.L30P
|
|
increases_activity of
|
response to endoplasmic reticulum stress
|
in HEK293 cells
|
| 131834 |
INS-p.L30P
|
|
increases_activity of
|
response to endoplasmic reticulum stress
|
in HEK293 cells
|
| 131835 |
INS rs121908261
|
|
increases_activity of
|
response to endoplasmic reticulum stress
|
in HEK293 cells
|
|
20007936
|
MODY, type X
|
CIDeRplus