|
2,477
|
| 132221 |
HNF1B
|
|
affects_activity of
|
Diabetes mellitus, type II
|
|
|
16936201
|
Diabetes mellitus, type II
Insulin resistance
|
|
2,941
|
| 26840 |
HNF1B
|
|
affects_activity of
|
Renal cysts and diabetes syndrome
|
|
| 132220 |
HNF1B rs1800575
|
|
increases_activity of
|
Renal cysts and diabetes syndrome
|
|
|
|
Diabetes mellitus, type II
Renal cysts and diabetes syndrome
Insulin resistance
|
|
2,963
|
| 27007 |
HNF1B-p.R137-K161del
|
|
increases_activity of
|
Renal cysts and diabetes syndrome
|
|
|
10484768
|
Diabetes mellitus, type II
Renal cysts and diabetes syndrome
Insulin resistance
|
|
5,687
|
| 54005 |
HNF1B -67C>T
|
|
increases_activity of
|
Renal cysts and diabetes syndrome
|
|
| 54044 |
HNF1B rs121918675
|
|
increases_activity of
|
Renal cysts and diabetes syndrome
|
|
| 54045 |
HNF1B IVS2nt+2insT
|
|
increases_activity of
|
Renal cysts and diabetes syndrome
|
|
| 54046 |
HNF1B IVS3nt-4C>G
|
|
increases_activity of
|
Renal cysts and diabetes syndrome
|
|
| 54047 |
HNF1B Met1_Trp557del
|
|
increases_activity of
|
Renal cysts and diabetes syndrome
|
|
| 54050 |
HNF1B rs121918675
|
|
increases_activity of
|
diabetic ketoacidosis
|
|
| 54053 |
HNF1B rs121918675
|
|
increases_activity of
|
kidney failure
|
|
| 54054 |
HNF1B rs121918675
|
|
increases_activity of
|
kidney cysts
|
|
| 54061 |
HNF1B IVS2nt+2insT
|
|
increases_activity of
|
kidney cysts
|
|
| 54065 |
HNF1B Met1_Trp557del
|
|
increases_activity of
|
kidney cysts
|
|
| 54066 |
HNF1B Met1_Trp557del
|
|
increases_activity of
|
abnormal pancreas morphology
|
|
| 54067 |
HNF1B Met1_Trp557del
|
|
increases_activity of
|
chronic calcific pancreatitis
|
|
|
25441779
|
Diabetes mellitus, type II
Diabetes mellitus, type I
Renal cysts and diabetes syndrome
Insulin resistance
|
|
5,697
|
| 54020 |
HNF1B-p.L264S
|
|
increases_activity of
|
Renal cysts and diabetes syndrome
|
|
| 54214 |
HNF1B-p.L264S
|
|
increases_activity of
|
increased circulating ketone body level
|
|
|
23926411
|
Diabetes mellitus, type II
Renal cysts and diabetes syndrome
Insulin resistance
|
|
5,705
|
| 54069 |
HNF1B Met1_Trp557del
|
|
increases_activity of
|
Renal cysts and diabetes syndrome
|
|
| 54228 |
HNF1B Met1_Trp557del
|
|
increases_activity of
|
abnormal kidney development
|
|
|
22587559
|
Diabetes mellitus, type II
Renal cysts and diabetes syndrome
Insulin resistance
|
|
5,716
|
| 132217 |
HNF1B
|
|
affects_activity of
|
Gestational diabetes mellitus
|
|
|
11562418
|
Diabetes mellitus, type II
Renal cysts and diabetes syndrome
Insulin resistance
|
|
5,717
|
| 54145 |
HNF1B-p.A263fsinsGG
|
|
increases_activity of
|
Renal cysts and diabetes syndrome
|
|
| 54232 |
HNF1B-p.A263fsinsGG
|
|
increases_activity of
|
abnormal kidney physiology
|
|
| 54233 |
HNF1B-p.A263fsinsGG
|
|
increases_activity of
|
increased urine protein level
|
|
| 54234 |
HNF1B-p.A263fsinsGG
|
|
increases_activity of
|
kidney cysts
|
|
|
9703339
|
Diabetes mellitus, type II
Renal cysts and diabetes syndrome
Insulin resistance
|
|
5,726
|
| 54235 |
HNF1B-p.R276X
|
|
increases_activity of
|
Renal cysts and diabetes syndrome
|
|
| 54236 |
HNF1B-p.R276X
|
|
increases_activity of
|
renal hypoplasia
|
|
| 54237 |
HNF1B-p.R276X
|
|
increases_activity of
|
kidney cysts
|
|
| 54239 |
HNF1B-p.R276X
|
|
decreases_activity of
|
HNF1B
|
|
|
12161522
|
Diabetes mellitus, type II
Renal cysts and diabetes syndrome
Insulin resistance
|
|
5,727
|
| 54241 |
HNF1B-p.R177X
|
|
increases_activity of
|
Renal cysts and diabetes syndrome
|
|
| 54242 |
HNF1B-p.R177X
|
|
increases_activity of
|
renal hypoplasia
|
|
| 54243 |
HNF1B-p.R177X
|
|
increases_activity of
|
kidney cysts
|
|
| 54244 |
HNF1B-p.R177X
|
|
increases_activity of
|
abnormal kidney physiology
|
|
| 54245 |
HNF1B-p.R177X
|
|
increases_activity of
|
abnormal liver physiology
|
|
|
12148114
|
Diabetes mellitus, type II
Renal cysts and diabetes syndrome
Insulin resistance
|
|
5,729
|
| 54247 |
HNF1B-c.IVS2 + 2delaagt
|
|
increases_activity of
|
Renal cysts and diabetes syndrome
|
|
|
|
Diabetes mellitus, type II
Renal cysts and diabetes syndrome
Insulin resistance
|
|
5,730
|
| 54248 |
HNF1B-c.IVS2nt + 1G>A
|
|
increases_activity of
|
Renal cysts and diabetes syndrome
|
|
|
|
Diabetes mellitus, type II
Renal cysts and diabetes syndrome
Insulin resistance
|
|
5,731
|
| 54249 |
HNF1B-c.IVS2+1G>T
|
|
increases_activity of
|
Renal cysts and diabetes syndrome
|
|
| 132218 |
HNF1B
|
|
affects_activity of
|
Familial juvenile hyperuricemic nephropathy
|
|
|
12675839
|
Diabetes mellitus, type II
Renal cysts and diabetes syndrome
Insulin resistance
|
|
13,933
|
| 131649 |
HNF1B rs147816724
|
|
increases_activity of
|
Renal cysts and diabetes syndrome
|
|
| 131650 |
HNF1B rs144425830
|
|
increases_activity of
|
Renal cysts and diabetes syndrome
|
|
| 131651 |
HNF1B rs144425830
|
|
increases_activity of
|
Renal cysts and diabetes syndrome
|
|
| 131652 |
HNF1B-p.S148L
|
|
increases_activity of
|
Renal cysts and diabetes syndrome
|
|
| 131653 |
HNF1B rs886043813
|
|
increases_activity of
|
Renal cysts and diabetes syndrome
|
|
|
31595705
|
MODY
|
|
13,965
|
| 131969 |
HNF1B rs138986885
|
|
increases_activity of
|
Renal cysts and diabetes syndrome
|
|
|
33477506
|
MODY
|
|
13,966
|
| 131976 |
HNF1B-p.L92F
|
|
increases_activity of
|
Renal cysts and diabetes syndrome
|
|
|
25041077
|
MODY
|
|
13,999
|
| 132226 |
HNF1B rs121918671
|
|
increases_activity of
|
Renal cysts and diabetes syndrome
|
|
| 132227 |
HNF1B-p.P159fsdelT
|
|
increases_activity of
|
Renal cysts and diabetes syndrome
|
|
|
11085914
|
Renal cysts and diabetes syndrome
|
|
14,000
|
| 132228 |
HNF1B-p.P328L329fsdelCCTCT
|
|
increases_activity of
|
Renal cysts and diabetes syndrome
|
|
| 132263 |
HNF1B-p.P328L329fsdelCCTCT
|
|
increases_activity of
|
abnormal kidney development
|
|
|
10720943
|
Renal cysts and diabetes syndrome
|
|
14,007
|
| 132268 |
HNF1B
|
|
affects_activity of
|
Diabetes mellitus, permanent neonatal
|
|
| 132276 |
HNF1B
|
|
affects_activity of
|
Polycystic kidney disease, neonatal
|
|
|
15181075
|
Diabetes mellitus, permanent neonatal
|
|
14,009
|
| 132279 |
HNF1B-EX5DUP
|
|
increases_activity of
|
Renal cysts and diabetes syndrome
|
|
|
17440011
|
Renal cysts and diabetes syndrome
|
|
14,010
|
| 132307 |
HNF1B rs144425830
|
|
increases_activity of
|
Renal cysts and diabetes syndrome
|
|
|
33324081
|
MODY
|
|
14,011
|
| 132309 |
HNF1B- p.R351Lfs
|
|
increases_activity of
|
Renal cysts and diabetes syndrome
|
|
|
32864159
|
Renal cysts and diabetes syndrome
|
|
14,012
|
| 132310 |
HNF1B rs763389234
|
|
increases_activity of
|
Renal cysts and diabetes syndrome
|
|
| 132311 |
HNF1B rs763389234
|
|
increases_activity of
|
renal hypoplasia
|
|
| 132312 |
HNF1B rs763389234
|
|
increases_activity of
|
kidney cysts
|
|
| 132318 |
HNF1B
|
|
affects_activity of
|
Tubulointerstitial kidney disease, autosomal dominant
|
|
|
32756155
|
Renal cysts and diabetes syndrome
|
|
14,015
|
| 132344 |
HNF1B
|
|
affects_activity of
|
glucose metabolic process
|
|
| 132347 |
HNF1B
|
|
affects_activity of
|
increased blood uric acid level
|
|
| 132348 |
HNF1B
|
|
affects_activity of
|
abnormal liver physiology
|
|
|
31198537
|
Renal cysts and diabetes syndrome
|
|
14,016
|
| 132349 |
Chromosome 17q12 deletion syndrome
|
|
decreases_quantity of
|
HNF1B
|
|
| 132380 |
HNF1B
|
|
affects_activity of
|
hydronephrosis
|
|
| 132383 |
HNF1B
|
|
affects_activity of
|
nephrocalcinosis
|
|
| 132384 |
HNF1B
|
|
affects_activity of
|
glomerular filtration
|
|
| 132386 |
HNF1B
|
|
affects_activity of
|
increased blood uric acid level
|
|
| 132387 |
HNF1B
|
|
affects_activity of
|
increased activity of parathyroid
|
|
| 132390 |
HNF1B
|
|
affects_activity of
|
abnormal liver physiology
|
|
|
31131422
|
Renal cysts and diabetes syndrome
|
|
14,018
|
| 132397 |
HNF1B-p.P328Lfs
|
|
increases_activity of
|
Renal cysts and diabetes syndrome
|
|
| 132399 |
HNF1B-p.P328Lfs
|
|
increases_activity of
|
kidney cysts
|
|
| 132400 |
HNF1B-p.P328Lfs
|
|
increases_activity of
|
decreased circulating magnesium level
|
|
| 132401 |
HNF1B-del
|
|
increases_activity of
|
absent pancreas
|
|
| 132405 |
HNF1B-del
|
|
increases_activity of
|
Renal cysts and diabetes syndrome
|
|
|
31066763
|
Renal cysts and diabetes syndrome
|
|
14,022
|
| 132454 |
HNF1B rs121918675
|
|
increases_activity of
|
Renal cysts and diabetes syndrome
|
|
|
30481753
|
MODY
|
|
14,024
|
| 132462 |
HNF1B rs758130759
|
|
increases_activity of
|
Renal cysts and diabetes syndrome
|
|
|
29764441
|
Renal cysts and diabetes syndrome
|
CIDeRplus