|
2,475
|
| 22970 |
HNF1A rs137853236
|
|
increases_activity of
|
MODY, type III
|
|
| 54505 |
HNF1A rs587776825
|
|
increases_activity of
|
MODY, type III
|
|
|
8945470
|
Diabetes mellitus, type II
MODY, type III
Insulin resistance
|
|
2,477
|
| 132222 |
HNF1A
|
|
affects_activity of
|
Diabetes mellitus, type II
|
|
|
16936201
|
Diabetes mellitus, type II
Insulin resistance
|
|
2,710
|
| 25293 |
HNF1A
|
|
increases_expression of
|
SLC2A2
|
in pancreas, in pancreatic islets
|
| 132602 |
HNF1A
|
|
increases_expression of
|
SLC2A1
|
|
|
21841783
|
Diabetes mellitus, type II
Obesity
Insulin resistance
Fatty liver disease, nonalcoholic
|
|
2,956
|
| 26957 |
HNF1A
|
|
increases_expression of
|
SLC5A2
|
in mice
|
| 54716 |
HNF1A-p.R55G56fsdelGAGGG
|
|
decreases_activity of
|
renal glucose absorption
|
|
| 54717 |
HNF1A-p.S142F
|
|
decreases_activity of
|
renal glucose absorption
|
|
| 54718 |
HNF1A-p.R171X
|
|
decreases_activity of
|
renal glucose absorption
|
|
| 54720 |
HNF1A-p.R55G56fsdelGAGGG
|
|
increases_activity of
|
increased urine glucose level
|
after fasting
|
| 54721 |
HNF1A-p.S142F
|
|
increases_activity of
|
increased urine glucose level
|
after fasting
|
| 54722 |
HNF1A-p.R171X
|
|
increases_activity of
|
increased urine glucose level
|
after fasting
|
|
11269503
|
Diabetes mellitus, type II
MODY, type III
Insulin resistance
|
|
2,957
|
| 26962 |
HNF1A
|
|
affects_activity of
|
insulin secretion
|
in pancreas, in pancreatic islets; if induced by glucose or arginine
|
|
9593777
|
Diabetes mellitus, type II
MODY, type III
Insulin resistance
|
|
3,013
|
| 27499 |
HNF1A-p.V133M
|
|
increases_activity of
|
MODY, type III
|
|
| 27503 |
HNF1A rs139712739
|
|
increases_activity of
|
MODY, type III
|
|
| 27504 |
HNF1A-p.R271W
|
|
increases_activity of
|
MODY, type III
|
|
| 27505 |
HNF1A-p.P379R
|
|
increases_activity of
|
MODY, type III
|
|
| 27506 |
HNF1A-p.E235G
|
|
increases_activity of
|
MODY, type III
|
|
| 27507 |
HNF1A-c.57-64delCACGCGGT;c.55G>C
|
|
increases_activity of
|
MODY, type III
|
|
|
21170474
|
Diabetes mellitus, type II
MODY, type III
Insulin resistance
|
|
3,837
|
| 38555 |
HNF1A
|
|
affects_activity of
|
Diabetes mellitus, ketosis-prone
|
in African American children and adolescents
|
|
22611441
|
Diabetes mellitus, type II
Diabetes mellitus, type I
Insulin resistance
Diabetes mellitus, ketosis-prone
|
|
5,330
|
| 54851 |
SLC5A2
|
|
increases_activity of
|
renal glucose absorption
|
in kidney proximal tubules
|
|
19324482
|
Diabetes mellitus, type II
Insulin resistance
|
|
5,676
|
| 53959 |
HNF1A-290fsdelC
|
|
increases_activity of
|
MODY, type III
|
in an Icelandic family
|
| 53960 |
HNF1A-p.R272C
|
|
increases_activity of
|
MODY, type III
|
in an Icelandic family
|
|
11719843
|
Diabetes mellitus, type II
MODY, type III
Insulin resistance
MODY, type VI
|
|
5,779
|
| 54507 |
HNF1A-p.G292fsdelG
|
|
increases_activity of
|
MODY, type III
|
|
| 54508 |
HNF1A rs137853237
|
|
increases_activity of
|
MODY, type III
|
|
| 54509 |
HNF1A-p.R159Q
|
|
increases_activity of
|
MODY, type III
|
|
| 54510 |
HNF1A-p.S142F
|
|
increases_activity of
|
MODY, type III
|
|
| 54511 |
HNF1A-p.P379fsinsC
|
|
increases_activity of
|
MODY, type III
|
|
| 54512 |
HNF1A-p.R55G56fsdelGAGGG
|
|
increases_activity of
|
MODY, type III
|
|
| 54513 |
HNF1A-p.P379fsdelCT
|
|
increases_activity of
|
MODY, type III
|
|
| 54514 |
HNF1A-p.Q7X
|
|
increases_activity of
|
MODY, type III
|
|
| 54515 |
HNF1A-p.R171X
|
|
increases_activity of
|
MODY, type III
|
|
| 54516 |
HNF1A-p.P291fsdelC
|
|
increases_activity of
|
MODY, type III
|
|
|
9097962
|
Diabetes mellitus, type II
MODY, type III
Insulin resistance
|
|
5,780
|
| 54517 |
HNF1A rs137853243
|
|
increases_activity of
|
MODY, type III
|
|
| 54520 |
HNF1A-p.Q466X
|
|
increases_activity of
|
MODY, type III
|
|
| 54523 |
HNF1A rs137853243
|
|
increases_activity of
|
reduced pancreatic beta cell function
|
|
| 54524 |
HNF1A-p.Q466X
|
|
increases_activity of
|
reduced pancreatic beta cell function
|
|
|
11162430
|
Diabetes mellitus, type II
MODY, type III
Insulin resistance
|
|
5,781
|
| 54518 |
HNF1A-p.G47E
|
|
increases_activity of
|
MODY, type III
|
|
| 54526 |
HNF1A-p.T196fsdelCCAA
|
|
increases_activity of
|
MODY, type III
|
|
| 54527 |
HNF1A-n. IVS3-1G>A
|
|
increases_activity of
|
MODY, type III
|
|
| 54528 |
HNF1A-p.S256T
|
|
increases_activity of
|
MODY, type III
|
|
| 54529 |
HNF1A rs137853245
|
|
increases_activity of
|
MODY, type III
|
|
| 54530 |
HNF1A-p.S445fsdelAG
|
|
increases_activity of
|
MODY, type III
|
|
| 54531 |
HNF1A-p.M522V
|
|
increases_activity of
|
MODY, type III
|
|
| 54532 |
HNF1A rs137853246
|
|
increases_activity of
|
MODY, type III
|
|
|
12574234
|
Diabetes mellitus, type II
MODY, type III
Insulin resistance
|
|
5,803
|
| 54743 |
MODY, type III
|
|
decreases_activity of
|
insulin secretion involved in cellular response to glucose stimulus
|
|
|
8866553
|
Diabetes mellitus, type II
MODY, type III
Insulin resistance
|
|
5,804
|
| 54744 |
HNF1A rs587776825
|
|
decreases_activity of
|
type B pancreatic cell proliferation
|
|
| 54745 |
HNF1A rs587776825
|
|
increases_activity of
|
decreased pancreatic beta cell mass
|
|
|
12031966
|
Diabetes mellitus, type II
Insulin resistance
|
|
5,805
|
| 54750 |
HNF1A rs587776825
|
|
decreases_expression of
|
INS
|
|
| 54751 |
HNF1A rs587776825
|
|
decreases_expression of
|
SLC2A2
|
|
| 54757 |
HNF1A rs587776825
|
|
decreases_activity of
|
insulin secretion involved in cellular response to glucose stimulus
|
|
| 54761 |
HNF1A rs587776825
|
|
increases_activity of
|
reduced pancreatic beta cell function
|
|
|
10944108
|
Diabetes mellitus, type II
Insulin resistance
|
|
5,806
|
| 54777 |
HNF1A rs587776825
|
|
decreases_expression of
|
INS
|
|
|
21628466
|
Diabetes mellitus, type II
Insulin resistance
|
|
13,888
|
| 131121 |
HNF1A
|
|
affects_activity of
|
MODY, type III
|
|
| 131122 |
HNF1A
|
|
affects_expression of
|
INS
|
|
|
33292863
|
MODY
|
|
13,933
|
| 131646 |
HNF1A rs577078110
|
|
increases_activity of
|
MODY, type III
|
|
|
31595705
|
MODY
|
|
13,965
|
| 131959 |
HNF1A-p.S6R
|
|
increases_activity of
|
MODY, type III
|
|
| 131960 |
HNF1A rs377129682
|
|
increases_activity of
|
MODY, type III
|
|
| 131961 |
HNF1A-c.526 +1G>T
|
|
increases_activity of
|
MODY, type III
|
|
| 131962 |
HNF1A rs587780357
|
|
increases_activity of
|
MODY, type III
|
|
| 131963 |
HNF1A-p.R238K
|
|
increases_activity of
|
MODY, type III
|
|
| 131964 |
HNF1A-c.713 +2T>A
|
|
increases_activity of
|
MODY, type III
|
|
| 131965 |
HNF1A rs886039544
|
|
increases_activity of
|
MODY, type III
|
|
| 131966 |
HNF1A rs483353044
|
|
increases_activity of
|
MODY, type III
|
|
| 131967 |
HNF1A rs1168108747
|
|
increases_activity of
|
MODY, type III
|
|
|
33477506
|
MODY
|
|
13,966
|
| 131974 |
HNF1A-p.A501S
|
|
increases_activity of
|
MODY, type III
|
|
|
25041077
|
MODY
|
|
14,010
|
| 132308 |
HNF1A rs150513055
|
|
increases_activity of
|
MODY, type III
|
|
|
33324081
|
MODY
|
|
14,030
|
| 132539 |
HNF1A rs886039544
|
|
increases_activity of
|
MODY, type III
|
|
| 132560 |
HNF1A rs886039544
|
|
decreases_activity of
|
insulin secretion involved in cellular response to glucose stimulus
|
|
| 132573 |
HNF1A rs886039544
|
|
decreases_expression of
|
SLC5A2
|
|
|
30507613
|
MODY, type III
|
|
14,031
|
| 132590 |
HNF1A
|
|
affects_activity of
|
Diabetes mellitus, type I, 20
|
|
|
9313763
|
Diabetes mellitus, type I, 20
|
|
14,032
|
| 132591 |
HNF1A-p.E230_C236del
|
|
increases_activity of
|
MODY, type III
|
|
|
33472798
|
MODY, type III
|
|
14,033
|
| 132592 |
HNF1A rs1169288
|
|
increases_activity of
|
MODY, type III
|
|
|
33363396
|
MODY
|
|
14,034
|
| 132594 |
HNF1A rs137853238
|
|
increases_activity of
|
MODY, type III
|
|
| 132595 |
HNF1A-p.S225Rfs
|
|
increases_activity of
|
MODY, type III
|
|
|
33245425
|
MODY, type III
|
|
14,035
|
| 132596 |
HNF1A
|
|
increases_expression of
|
SLC5A1
|
|
| 132597 |
HNF1A
|
|
affects_activity of
|
glucagon secretion
|
via SLC5A1
|
| 132598 |
HNF1A
|
|
affects_activity of
|
insulin secretion involved in cellular response to glucose stimulus
|
|
|
32711050
|
MODY, type III
|
|
14,036
|
| 132599 |
HNF1A-p.R238M
|
|
increases_activity of
|
hyperinsulinism, congenital
|
|
| 132601 |
HNF1A-p.R238M
|
|
increases_activity of
|
MODY, type III
|
|
|
32325224
|
MODY, type III
|
CIDeRplus