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MODY5
MCID: HNF003
MIFTS: 39

Hnf1b-Related Autosomal Dominant Tubulointerstitial Kidney Disease (MODY5)

Categories: Blood diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Hnf1b-Related Autosomal Dominant Tubulointerstitial Kidney...

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MalaCards integrated aliases for Hnf1b-Related Autosomal Dominant Tubulointerstitial Kidney Disease:

Name: Hnf1b-Related Autosomal Dominant Tubulointerstitial Kidney Disease 58
Renal Dysfunction-Early-Onset Diabetes Syndrome 58
Maturity-Onset Diabetes of the Young Type 5 58
Renal Cysts and Diabetes Syndrome 58
Rcad Syndrome 58
Adtkd-Hnf1b 58
Hnf1b-Mody 58
Mody5 58

Characteristics:

Orphanet epidemiological data:

58
hnf1b-related autosomal dominant tubulointerstitial kidney disease
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood;

Classifications:

MalaCards categories:
Global: Fetal diseases Rare diseases Genetic diseases
Anatomical: Nephrological diseases Endocrine diseases Blood diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare renal diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


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Summaries for Hnf1b-Related Autosomal Dominant Tubulointerstitial Kidney...

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MalaCards based summary : Hnf1b-Related Autosomal Dominant Tubulointerstitial Kidney Disease, also known as renal dysfunction-early-onset diabetes syndrome, is related to renal cysts and diabetes syndrome and maturity-onset diabetes of the young, type 3. An important gene associated with Hnf1b-Related Autosomal Dominant Tubulointerstitial Kidney Disease is HNF1B (HNF1 Homeobox B), and among its related pathways/superpathways are Mesodermal Commitment Pathway and WNT Signaling. Affiliated tissues include kidney, pancreas and uterus, and related phenotypes are multicystic kidney dysplasia and diabetes mellitus

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Related Diseases for Hnf1b-Related Autosomal Dominant Tubulointerstitial Kidney...

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Diseases in the Autosomal Dominant Tubulointerstitial Kidney Disease family:

Autosomal Dominant Tubulointerstitial Kidney Disease, Muc1-Related Autosomal Dominant Tubulointerstitial Kidney Disease, Ren-Related
Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related Hnf1b-Related Autosomal Dominant Tubulointerstitial Kidney Disease

Diseases related to Hnf1b-Related Autosomal Dominant Tubulointerstitial Kidney Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 51)
# Related Disease Score Top Affiliating Genes
1 renal cysts and diabetes syndrome 33.9 HNF4A HNF1B
2 maturity-onset diabetes of the young, type 3 29.9 HNF4A HNF1B
3 maturity-onset diabetes of the young 29.5 HNF4A HNF1B
4 monogenic diabetes 29.5 HNF4A HNF1B
5 maturity-onset diabetes of the young, type 1 29.5 HNF4A HNF1B
6 glomerulocystic kidney disease with hyperuricemia and isosthenuria 11.3
7 primary hypomagnesemia 11.3
8 cakut 11.3
9 fibrosis of extraocular muscles, congenital, 1 10.3
10 renal fibrosis 10.3
11 kidney disease 10.3
12 autosomal dominant tubulointerstitial kidney disease 10.3
13 diabetes mellitus 10.2
14 diabetes mellitus, permanent neonatal 10.2
15 hypomagnesemia 2, renal 10.2
16 pectus excavatum 10.1
17 duodenal atresia 10.1
18 polycystic kidney disease 2 with or without polycystic liver disease 10.1
19 maturity-onset diabetes of the young, type 11 10.1
20 end stage renal failure 10.1
21 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.1
22 chromosome 17q12 deletion syndrome 10.1
23 alacrima, achalasia, and mental retardation syndrome 10.1
24 gestational diabetes 10.1
25 hyperuricemia 10.1
26 infertility 10.1
27 hyperglycemia 10.0
28 cystic kidney disease 10.0
29 diabetes mellitus, noninsulin-dependent 9.9
30 nephrotic syndrome, type 1 9.9
31 nephrotic syndrome, type 4 9.9
32 nephrotic syndrome, type 2 9.9
33 nephrotic syndrome, type 9 9.9
34 renal hypoplasia 9.9
35 polycystic kidney disease 9.9
36 hydronephrosis 9.9
37 nephrotic syndrome 9.9
38 gout 9.9
39 familial nephrotic syndrome 9.9
40 liver disease 9.9
41 chronic kidney disease 9.9
42 autosomal dominant polycystic kidney disease 9.9
43 17q12 recurrent deletion syndrome 9.9
44 maturity-onset diabetes of the young, type 7 9.7 HNF4A HNF1B
45 maturity-onset diabetes of the young, type 6 9.7 HNF4A HNF1B
46 maturity-onset diabetes of the young, type 4 9.7 HNF4A HNF1B
47 maturity-onset diabetes of the young, type 2 9.6 HNF4A HNF1B
48 rare diabetes mellitus type 2 9.5 HNF4A HNF1B
49 neonatal diabetes mellitus 9.5 HNF4A HNF1B
50 contractures, pterygia, and variable skeletal fusions syndrome 1a 9.4 HNF4A HNF1B

Graphical network of the top 20 diseases related to Hnf1b-Related Autosomal Dominant Tubulointerstitial Kidney Disease:



Diseases related to Hnf1b-Related Autosomal Dominant Tubulointerstitial Kidney Disease
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Symptoms & Phenotypes for Hnf1b-Related Autosomal Dominant Tubulointerstitial Kidney...

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Human phenotypes related to Hnf1b-Related Autosomal Dominant Tubulointerstitial Kidney Disease:

58 31 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 multicystic kidney dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000003
2 diabetes mellitus 58 31 frequent (33%) Frequent (79-30%) HP:0000819
3 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
4 hypothyroidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000821
5 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
6 global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001263
7 mandibular prognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000303
8 arthritis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001369
9 horseshoe kidney 58 31 occasional (7.5%) Occasional (29-5%) HP:0000085
10 polydipsia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001959
11 hyperuricemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002149
12 joint hyperflexibility 58 31 occasional (7.5%) Occasional (29-5%) HP:0005692
13 hepatic steatosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001397
14 elevated hepatic transaminase 58 31 occasional (7.5%) Occasional (29-5%) HP:0002910
15 jaundice 58 31 occasional (7.5%) Occasional (29-5%) HP:0000952
16 glomerulopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0100820
17 hypospadias 58 31 occasional (7.5%) Occasional (29-5%) HP:0000047
18 renal cell carcinoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0005584
19 papillary cystadenoma of the epididymis 58 31 occasional (7.5%) Occasional (29-5%) HP:0009715
20 pyloric stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002021
21 acute kidney injury 58 31 occasional (7.5%) Occasional (29-5%) HP:0001919
22 renal agenesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000104
23 bicornuate uterus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000813
24 absent vas deferens 58 31 occasional (7.5%) Occasional (29-5%) HP:0012873
25 renal fanconi syndrome 58 31 occasional (7.5%) Occasional (29-5%) HP:0001994
26 aplasia/hypoplasia of the pancreas 58 31 occasional (7.5%) Occasional (29-5%) HP:0100800
27 abnormality of endocrine pancreas physiology 58 31 occasional (7.5%) Occasional (29-5%) HP:0012093
28 abnormality of exocrine pancreas physiology 58 31 occasional (7.5%) Occasional (29-5%) HP:0012092
29 renal insufficiency 58 Very frequent (99-80%)
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Drugs & Therapeutics for Hnf1b-Related Autosomal Dominant Tubulointerstitial Kidney...

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Search Clinical Trials , NIH Clinical Center for Hnf1b-Related Autosomal Dominant Tubulointerstitial Kidney Disease

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Genetic Tests for Hnf1b-Related Autosomal Dominant Tubulointerstitial Kidney...

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Anatomical Context for Hnf1b-Related Autosomal Dominant Tubulointerstitial Kidney...

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MalaCards organs/tissues related to Hnf1b-Related Autosomal Dominant Tubulointerstitial Kidney Disease:

40
Kidney, Pancreas, Uterus, Liver, T Cells
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Publications for Hnf1b-Related Autosomal Dominant Tubulointerstitial Kidney...

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Articles related to Hnf1b-Related Autosomal Dominant Tubulointerstitial Kidney Disease:

(show all 22)
# Title Authors PMID Year
1
Maturity-Onset Diabetes of the Young Overview 6
29792621 2018
2
17q12 Recurrent Deletion Syndrome 6
27929632 2016
3
The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype. 6
24285859 2014
4
Novel presentations of congenital hyperinsulinism due to mutations in the MODY genes: HNF1A and HNF4A. 6
22802087 2012
5
HNF1B mutations associate with hypomagnesemia and renal magnesium wasting. 6
19389850 2009
6
Exonic duplication of the hepatocyte nuclear factor-1beta gene (transcription factor 2, hepatic) as a cause of maturity onset diabetes of the young type 5. 6
17440011 2007
7
Mutations in hepatocyte nuclear factor-1beta and their related phenotypes. 6
15930087 2006
8
Germline hepatocyte nuclear factor 1alpha and 1beta mutations in renal cell carcinomas. 6
15649945 2005
9
Neonatal diabetes mellitus and neonatal polycystic, dysplastic kidneys: Phenotypically discordant recurrence of a mutation in the hepatocyte nuclear factor-1beta gene due to germline mosaicism. 6
15181075 2004
10
Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations. 6
15068978 2004
11
Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1beta gene mutation. 6
12675839 2003
12
Nonsense and missense mutations in the human hepatocyte nuclear factor-1 beta gene (TCF2) and their relation to type 2 diabetes in Japanese. 6
12161522 2002
13
Hepatocyte nuclear factor-1beta: a new kindred with renal cysts and diabetes and gene expression in normal human development. 6
11562418 2001
14
Splice site mutation in the hepatocyte nuclear factor-1 beta gene, IVS2nt + 1G > A, associated with maturity-onset diabetes of the young, renal dysplasia and bicornuate uterus. 6
11317673 2001
15
Mutations in the hepatocyte nuclear factor-1beta gene are associated with familial hypoplastic glomerulocystic kidney disease. 6
11085914 2001
16
The mutated human gene encoding hepatocyte nuclear factor 1beta inhibits kidney formation in developing Xenopus embryos. 6
10758154 2000
17
Abnormal nephron development associated with a frameshift mutation in the transcription factor hepatocyte nuclear factor-1 beta. 6
10720943 2000
18
A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1beta. 6
10484768 1999
19
Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY. 6
9398836 1997
20
Familial hypoplastic glomerulocystic kidney disease: a definite entity with dominant inheritance. 6
2624270 1989
21
Familial hypoplastic glomerulocystic kidney. A new entity? 6
7151342 1982
22
Mechanism of Fibrosis in HNF1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease. 61
30097458 2018
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Variations for Hnf1b-Related Autosomal Dominant Tubulointerstitial Kidney...

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ClinVar genetic disease variations for Hnf1b-Related Autosomal Dominant Tubulointerstitial Kidney Disease:

6 (show top 50) (show all 217) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HNF1B NM_000458.4(HNF1B):c.1132dup (p.Gln378fs)duplication Pathogenic 224334 rs1057519371 17:36070584-36070585 17:37710576-37710577
2 HNF1B NM_000458.4(HNF1B):c.529C>T (p.Arg177Ter)SNV Pathogenic 12635 rs1800575 17:36099446-36099446 17:37739455-37739455
3 HNF1B NM_000458.4(HNF1B):c.301G>T (p.Glu101Ter)SNV Pathogenic 12638 rs121918671 17:36104575-36104575 17:37744584-37744584
4 HNF1B NM_000458.4(HNF1B):c.826C>T (p.Arg276Ter)SNV Pathogenic 12640 rs121918672 17:36091805-36091805 17:37731814-37731814
5 HNF1B NM_000458.4(HNF1B):c.1395C>G (p.Ser465Arg)SNV Pathogenic 12641 rs121918673 17:36061127-36061127 17:37701122-37701122
6 HNF1B NM_000458.4(HNF1B):c.1055dup (p.Tyr352Ter)duplication Pathogenic 12642 rs1568645768 17:36070661-36070662 17:37710653-37710654
7 HNF1B NM_000458.4(HNF1B):c.544+1G>ASNV Pathogenic 12643 rs1568670479 17:36099430-36099430 17:37739439-37739439
8 HNF1B NM_000458.4(HNF1B):c.544+1G>TSNV Pathogenic 12644 rs1568670479 17:36099430-36099430 17:37739439-37739439
9 HNF1B NM_000458.4(HNF1B):c.443C>G (p.Ser148Trp)SNV Pathogenic 12645 rs121918674 17:36099532-36099532 17:37739541-37739541
10 HNF1B NM_000458.4(HNF1B):c.46del (p.Leu16fs)deletion Pathogenic 12648 rs587776771 17:36104830-36104830 17:37744839-37744839
11 HNF1B NM_000458.4(HNF1B):c.809+1G>TSNV Pathogenic 280497 rs1555830002 17:36093549-36093549 17:37733556-37733556
12 HNF1B NM_000458.4(HNF1B):c.406dup (p.Gln136fs)duplication Pathogenic 280653 rs886041820 17:36099568-36099569 17:37739577-37739578
13 HNF1B NM_000458.4(HNF1B):c.541C>T (p.Arg181Ter)SNV Pathogenic 372381 rs1057517744 17:36099434-36099434 17:37739443-37739443
14 HNF1B NM_000458.4(HNF1B):c.230_233del (p.Asp77fs)deletion Pathogenic 446150 rs1555833071 17:36104643-36104646 17:37744652-37744655
15 HNF1B NM_000458.4(HNF1B):c.344+1G>ASNV Pathogenic 447512 rs1555832998 17:36104531-36104531 17:37744540-37744540
16 HNF1B NM_000458.4(HNF1B):c.121del (p.Gly40_Val41insTer)deletion Pathogenic 522424 rs1555833144 17:36104755-36104755 17:37744764-37744764
17 HNF1B NM_000458.4(HNF1B):c.789del (p.Ala263_Leu264insTer)deletion Pathogenic 586803 rs1568665590 17:36093570-36093570 17:37733577-37733577
18 HNF1B NM_000458.4(HNF1B):c.632_635dup (p.Ser213fs)duplication Pathogenic 586802 rs1568665905 17:36093723-36093724 17:37733730-37733731
19 HNF1B NM_000458.4(HNF1B):c.544C>T (p.Gln182Ter)SNV Pathogenic 586801 rs1568670481 17:36099431-36099431 17:37739440-37739440
20 HNF1B NM_000458.4(HNF1B):c.439C>T (p.Gln147Ter)SNV Pathogenic 586799 rs1568670702 17:36099536-36099536 17:37739545-37739545
21 HNF1B NM_000458.4(HNF1B):c.513G>A (p.Trp171Ter)SNV Pathogenic 620126 rs1568670533 17:36099462-36099462 17:37739471-37739471
22 HNF1B NM_000458.4(HNF1B):c.1561dup (p.Gln521fs)duplication Pathogenic 635577 17:36059173-36059174 17:37699167-37699168
23 HNF1B NM_000458.4(HNF1B):c.1429C>T (p.Gln477Ter)SNV Pathogenic 635583 17:36061093-36061093 17:37701088-37701088
24 HNF1B NM_000458.4(HNF1B):c.1406_1413dup (p.Val472fs)duplication Pathogenic 635584 17:36061108-36061109 17:37701103-37701104
25 HNF1B NM_000458.4(HNF1B):c.1408C>T (p.Gln470Ter)SNV Pathogenic 635585 17:36061114-36061114 17:37701109-37701109
26 HNF1B NM_000458.4(HNF1B):c.1361_1362AG[1] (p.Ser455fs)short repeat Pathogenic 635586 17:36061158-36061159 17:37701153-37701154
27 HNF1B NM_000458.4(HNF1B):c.1358_1359CA[1] (p.Gln454fs)short repeat Pathogenic 635587 17:36061161-36061162 17:37701156-37701157
28 HNF1B NM_000458.4(HNF1B):c.1360C>T (p.Gln454Ter)SNV Pathogenic 635588 17:36061162-36061162 17:37701157-37701157
29 HNF1B NM_000458.4(HNF1B):c.1235dup (p.Val413fs)duplication Pathogenic 635596 17:36065027-36065028 17:37705020-37705021
30 HNF1B NM_000458.4(HNF1B):c.1118_1147del (p.Ala373_Gln383delinsGlu)deletion Pathogenic 635603 17:36070570-36070599 17:37710562-37710591
31 HNF1B NM_000458.4(HNF1B):c.1119_1147del (p.Met374fs)deletion Pathogenic 635602 17:36070570-36070598 17:37710562-37710590
32 HNF1B NM_000458.4(HNF1B):c.1144C>T (p.Gln382Ter)SNV Pathogenic 635604 17:36070573-36070573 17:37710565-37710565
33 HNF1B NM_000458.4(HNF1B):c.1138del (p.Val380fs)deletion Pathogenic 635605 17:36070579-36070579 17:37710571-37710571
34 HNF1B NM_000458.4(HNF1B):c.1136C>A (p.Ser379Ter)SNV Pathogenic 635606 17:36070581-36070581 17:37710573-37710573
35 HNF1B NM_000458.4(HNF1B):c.1096_1099del (p.Ile366fs)deletion Pathogenic 635607 17:36070618-36070621 17:37710610-37710613
36 HNF1B NM_000458.4(HNF1B):c.1302del (p.Ile434_Met435insTer)deletion Pathogenic 635592 17:36064961-36064961 17:37704954-37704954
37 HNF1B NM_000458.4(HNF1B):c.1299del (p.Ile434fs)deletion Pathogenic 635593 17:36064964-36064964 17:37704957-37704957
38 HNF1B NM_000458.4(HNF1B):c.1517del (p.Gln506fs)deletion Pathogenic 635580 17:36061005-36061005 17:37701000-37701000
39 HNF1B NM_000458.4(HNF1B):c.1048dup (p.Val350fs)duplication Pathogenic 635609 17:36070668-36070669 17:37710660-37710661
40 HNF1B NM_000458.4(HNF1B):c.1006del (p.His336fs)deletion Pathogenic 635616 17:36091625-36091625 17:37731634-37731634
41 HNF1B NM_000458.4(HNF1B):c.1006dup (p.His336fs)duplication Pathogenic 635617 17:36091624-36091625 17:37731633-37731634
42 HNF1B NM_000458.4(HNF1B):c.982_986del (p.Pro328fs)deletion Pathogenic 635618 17:36091645-36091649 17:37731654-37731658
43 HNF1B NM_000458.4(HNF1B):c.983del (p.Pro328fs)deletion Pathogenic 635619 17:36091648-36091648 17:37731657-37731657
44 HNF1B NM_000458.4(HNF1B):c.970_971CA[1] (p.His324fs)short repeat Pathogenic 635620 17:36091658-36091659 17:37731667-37731668
45 HNF1B NM_000458.4(HNF1B):c.967dup (p.Thr323fs)duplication Pathogenic 635621 17:36091663-36091664 17:37731672-37731673
46 HNF1B NM_000458.4(HNF1B):c.953dup (p.Tyr318Ter)duplication Pathogenic 635622 17:36091677-36091678 17:37731686-37731687
47 HNF1B NM_000458.4(HNF1B):c.949del (p.Ala317fs)deletion Pathogenic 635623 17:36091682-36091682 17:37731691-37731691
48 HNF1B NM_000458.4(HNF1B):c.931C>T (p.Gln311Ter)SNV Pathogenic 635625 17:36091700-36091700 17:37731709-37731709
49 HNF1B NM_000458.4(HNF1B):c.883C>T (p.Arg295Cys)SNV Pathogenic 635631 17:36091748-36091748 17:37731757-37731757
50 HNF1B NM_000458.4(HNF1B):c.869T>A (p.Leu290Ter)SNV Pathogenic 635632 17:36091762-36091762 17:37731771-37731771
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Expression for Hnf1b-Related Autosomal Dominant Tubulointerstitial Kidney...

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Search GEO for disease gene expression data for Hnf1b-Related Autosomal Dominant Tubulointerstitial Kidney Disease.
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Pathways for Hnf1b-Related Autosomal Dominant Tubulointerstitial Kidney...

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Pathways related to Hnf1b-Related Autosomal Dominant Tubulointerstitial Kidney Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Mesodermal Commitment Pathway 1
Show member pathways
 11.85 HNF4A HNF1B
2
WNT Signaling 63
11.72 HNF4A HNF1B
3
Human Embryonic Stem Cell Pluripotency 63
Show member pathways
 11.7 HNF4A HNF1B
4
Hepatic ABC Transporters 63
Show member pathways
 11.25 HNF4A HNF1B
5
Regulation of beta-cell development 65
Show member pathways
 10.96 HNF4A HNF1B
6
Type II diabetes mellitus 36 1
Show member pathways
 10.61 HNF4A HNF1B
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GO Terms for Hnf1b-Related Autosomal Dominant Tubulointerstitial Kidney...

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Biological processes related to Hnf1b-Related Autosomal Dominant Tubulointerstitial Kidney Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.16 HNF4A HNF1B
2 response to glucose GO:0009749 8.96 HNF4A HNF1B
3 hepatocyte differentiation GO:0070365 8.62 HNF4A HNF1B

Molecular functions related to Hnf1b-Related Autosomal Dominant Tubulointerstitial Kidney Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 8.96 HNF4A HNF1B
2 transcription regulatory region DNA binding GO:0044212 8.62 HNF4A HNF1B
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Sources for Hnf1b-Related Autosomal Dominant Tubulointerstitial Kidney...

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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