MCID: RNL051
MIFTS: 44

Renal Cysts and Diabetes Syndrome

Categories: Genetic diseases, Rare diseases, Nephrological diseases, Endocrine diseases, Fetal diseases

Aliases & Classifications for Renal Cysts and Diabetes Syndrome

MalaCards integrated aliases for Renal Cysts and Diabetes Syndrome:

Name: Renal Cysts and Diabetes Syndrome 57 12 53 59 75 13 38 73
Mody5 57 12 53 59 75
Rcad 57 12 53 75
Congenital Anomalies of the Kidney and Urinary Tract with Diabetes 57 12 75
Cakut with Diabetes 57 12 75
Hyperuricemic Nephropathy, Familial Juvenile, Atypical 57 53
Atypical Familial Juvenile Hyperuricemic Nephropathy 12 75
Glomerulocystic Kidney Disease, Hypoplastic Type 57 53
Maturity-Onset Diabetes of the Young, Type 5 57 53
Glomerulocystic Kidney, Familial Hypoplastic 57 53
Familial Hypoplastic, Glomerulocystic Kidney 29 6
Maturity-Onset Diabetes of the Young Type 5 12 75
Familial Hypoplastic Glomerulocystic Kidney 12 75
Atypical Fjhn 12 75
Renal Cysts-Maturity-Onset Diabetes of the Young Syndrome 59
Maturity-Onset Diabetes of the Young, Type 5; Mody5 57
Hypoplastic Type Glomerulocystic Kidney Disease 12
Hnf1b-Related Renal Cysts and Diabetes Syndrome 59
Renal Dysfunction-Early-Onset Diabetes Syndrome 59
Glomerulocystic Kidney Disease Hypoplastic Type 75
Renal Cysts and Diabetes Syndrome ) 40
Renal-Diabetes Mody5 Syndrome 75
Fjhn, Atypical 57
Fjhn Atypical 53
Rcad Syndrome 59
Mody Type 5 53
Hnf1b-Mody 59

Characteristics:

Orphanet epidemiological data:

59
renal cysts and diabetes syndrome
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
highly variable phenotype
variable age at onset, range infancy to adult
if onset of diabetes is before age 25, the diagnosis is consistent with maturity-onset diabetes of the young type 5 (mody5)


HPO:

32
renal cysts and diabetes syndrome:
Onset and clinical course phenotypic variability onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Renal Cysts and Diabetes Syndrome

OMIM : 57 The 'renal cysts and diabetes syndrome' is an autosomal dominant disorder comprising (1) nondiabetic renal disease resulting from abnormal renal development, and (2) diabetes, which in some cases occurs earlier than age 25 years and is thus consistent with a diagnosis of maturity-onset diabetes of the young (MODY). The renal disease is highly variable and includes renal cysts, glomerular tufts, aberrant nephrogenesis, primitive tubules, irregular collecting systems, oligomeganephronia, enlarged renal pelvises, abnormal calyces, small kidney, single kidney, horseshoe kidney, and hyperuricemic nephropathy. Affected individuals may also have abnormalities of the genital tract, including vaginal aplasia, rudimentary uterus, bicornuate uterus, epididymal cysts, and atresia of the vas deferens (Bingham et al., 2001; Fajans et al., 2001; Bellanne-Chantelot et al., 2004; Edghill et al., 2006). The renal abnormalities seen in the RCAD syndrome are part of a spectrum of malformations known as congenital anomalies of the kidney and urinary tract (CAKUT; see 610805) (summary by Nakayama et al., 2010). (137920)

MalaCards based summary : Renal Cysts and Diabetes Syndrome, also known as mody5, is related to maturity-onset diabetes of the young and 17q12 deletion syndrome. An important gene associated with Renal Cysts and Diabetes Syndrome is HNF1B (HNF1 Homeobox B), and among its related pathways/superpathways are Mesodermal Commitment Pathway and Human Embryonic Stem Cell Pluripotency. Affiliated tissues include kidney, uterus and pancreas, and related phenotypes are diabetes mellitus and hypothyroidism

Disease Ontology : 12 A maturity-onset diabetes of the young characterized by abnormal renal development resuting in non-diabetic kidney disease and diabetes that has material basis in mutation in the HNF1B gene on chromosome 17q12.

UniProtKB/Swiss-Prot : 75 Renal cysts and diabetes syndrome: An autosomal dominant disorder comprising non-diabetic renal disease resulting from abnormal renal development, and diabetes, which in some cases occurs earlier than age 25 years and is thus consistent with a diagnosis of maturity-onset diabetes of the young (MODY5). The renal disease is highly variable and includes renal cysts, glomerular tufts, aberrant nephrogenesis, primitive tubules, irregular collecting systems, oligomeganephronia, enlarged renal pelves, abnormal calyces, small kidney, single kidney, horseshoe kidney, and hyperuricemic nephropathy. Affected individuals may also have abnormalities of the genital tract.

Wikipedia : 76 Renal cysts and diabetes syndrome (RCAD), also known as MODY 5, is a form of maturity onset diabetes of... more...

Related Diseases for Renal Cysts and Diabetes Syndrome

Diseases related to Renal Cysts and Diabetes Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 maturity-onset diabetes of the young 28.6 HNF1B HNF4A
2 17q12 deletion syndrome 11.4
3 glomerulocystic kidney disease with hyperuricemia and isosthenuria 11.0
4 primary hypomagnesemia 11.0
5 kidney disease 10.2
6 hyperuricemic nephropathy, familial juvenile, 1 10.1
7 cystic kidney disease 10.0
8 anxiety 9.9
9 diabetes mellitus, noninsulin-dependent 9.2 HNF1B HNF4A
10 diabetes mellitus 9.0 HNF1B HNF4A

Graphical network of the top 20 diseases related to Renal Cysts and Diabetes Syndrome:



Diseases related to Renal Cysts and Diabetes Syndrome

Symptoms & Phenotypes for Renal Cysts and Diabetes Syndrome

Symptoms via clinical synopsis from OMIM:

57
Endocrine Features:
diabetes mellitus
impaired glucose tolerance

Genitourinary External Genitalia Male:
hypospadias

Genitourinary Internal Genitalia Female:
bicornuate uterus
vagina aplasia
rudimentary uterus

Abdomen Liver:
subclinical abnormal liver function tests

GenitourinaryInternal GenitaliaMale:
asthenospermia
epididymal cysts
atresia of the vas deferens

Laboratory Abnormalities:
proteinuria
hyperuricemia
glucosuria
increased serum creatinine

Genitourinary Kidneys:
renal hypoplasia
renal cysts
cortical atrophy
congenital anomalies of the kidney and urinary tract (cakut)
chronic renal failure
more
Growth Weight:
no obesity

Abdomen Pancreas:
pancreas atrophy
subclinical defect in pancreatic exocrine function

Skeletal Feet:
gout, early-onset


Clinical features from OMIM:

137920

Human phenotypes related to Renal Cysts and Diabetes Syndrome:

59 32 (show top 50) (show all 54)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 diabetes mellitus 59 32 frequent (33%) Frequent (79-30%) HP:0000819
2 hypothyroidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000821
3 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
4 mandibular prognathia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000303
5 hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000365
6 global developmental delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0001263
7 arthritis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001369
8 polydipsia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001959
9 hyperuricemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002149
10 joint hyperflexibility 59 32 occasional (7.5%) Occasional (29-5%) HP:0005692
11 hepatic steatosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001397
12 elevated hepatic transaminases 59 32 frequent (33%) Occasional (29-5%) HP:0002910
13 horseshoe kidney 59 32 occasional (7.5%) Occasional (29-5%) HP:0000085
14 jaundice 59 32 occasional (7.5%) Occasional (29-5%) HP:0000952
15 glomerulopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0100820
16 hypospadias 59 32 occasional (7.5%) Occasional (29-5%) HP:0000047
17 multicystic kidney dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000003
18 renal cell carcinoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0005584
19 papillary cystadenoma of the epididymis 59 32 occasional (7.5%) Occasional (29-5%) HP:0009715
20 pyloric stenosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002021
21 acute kidney injury 59 32 occasional (7.5%) Occasional (29-5%) HP:0001919
22 renal agenesis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000104
23 bicornuate uterus 59 32 very rare (1%) Occasional (29-5%) HP:0000813
24 absent vas deferens 59 32 occasional (7.5%) Occasional (29-5%) HP:0012873
25 renal fanconi syndrome 59 32 occasional (7.5%) Occasional (29-5%) HP:0001994
26 aplasia/hypoplasia of the pancreas 59 32 occasional (7.5%) Occasional (29-5%) HP:0100800
27 abnormality of endocrine pancreas physiology 59 32 occasional (7.5%) Occasional (29-5%) HP:0012093
28 abnormality of exocrine pancreas physiology 59 32 occasional (7.5%) Occasional (29-5%) HP:0012092
29 renal insufficiency 59 Very frequent (99-80%)
30 proteinuria 32 frequent (33%) HP:0000093
31 glucose intolerance 32 frequent (33%) HP:0000833
32 exocrine pancreatic insufficiency 32 very rare (1%) HP:0001738
33 cerebral cortical atrophy 32 HP:0002120
34 multiple renal cysts 32 HP:0005562
35 biliary tract abnormality 32 frequent (33%) HP:0001080
36 renal hypoplasia 32 very rare (1%) HP:0000089
37 elevated serum creatinine 32 frequent (33%) HP:0003259
38 nephrolithiasis 32 HP:0000787
39 gout 32 frequent (33%) HP:0001997
40 ureteropelvic junction obstruction 32 HP:0000074
41 abnormality of the liver 32 HP:0001392
42 unilateral renal agenesis 32 very rare (1%) HP:0000122
43 hypoplasia of the uterus 32 very rare (1%) HP:0000013
44 renal cyst 32 very rare (1%) HP:0000107
45 glycosuria 32 frequent (33%) HP:0003076
46 stage 5 chronic kidney disease 32 frequent (33%) HP:0003774
47 pancreatic hypoplasia 32 very rare (1%) HP:0002594
48 epididymal cyst 32 HP:0030424
49 maturity-onset diabetes of the young 32 very rare (1%) HP:0004904
50 reduced sperm motility 32 HP:0012207

Drugs & Therapeutics for Renal Cysts and Diabetes Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Long Term Follow up of a Cohort of Children With TCF2 Mutation:Evolution of Endocrine and Renal Function Recruiting NCT00760331

Search NIH Clinical Center for Renal Cysts and Diabetes Syndrome

Genetic Tests for Renal Cysts and Diabetes Syndrome

Genetic tests related to Renal Cysts and Diabetes Syndrome:

# Genetic test Affiliating Genes
1 Familial Hypoplastic, Glomerulocystic Kidney 29 HNF1B

Anatomical Context for Renal Cysts and Diabetes Syndrome

MalaCards organs/tissues related to Renal Cysts and Diabetes Syndrome:

41
Kidney, Uterus, Pancreas, Liver, Testes

Publications for Renal Cysts and Diabetes Syndrome

Articles related to Renal Cysts and Diabetes Syndrome:

# Title Authors Year
1
Systematic review of TCF2 anomalies in renal cysts and diabetes syndrome/maturity onset diabetes of the young type 5. ( 21163139 )
2010
2
Renal cysts and diabetes syndrome resulting from mutations in hepatocyte nuclear factor-1beta. ( 15496559 )
2004
3
Abnormal splicing of hepatocyte nuclear factor-1 beta in the renal cysts and diabetes syndrome. ( 15085338 )
2004
4
Renal cysts and diabetes syndrome linked to mutations of the hepatocyte nuclear factor-1 beta gene: description of a new family with associated liver involvement. ( 12148114 )
2002

Variations for Renal Cysts and Diabetes Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Renal Cysts and Diabetes Syndrome:

75 (show all 22)
# Symbol AA change Variation ID SNP ID
1 HNF1B p.Ser36Phe VAR_046012 rs544890850
2 HNF1B p.Val61Gly VAR_046013 rs147816724
3 HNF1B p.Val110Gly VAR_046015 rs894213416
4 HNF1B p.Arg112Pro VAR_046016
5 HNF1B p.Gln136Glu VAR_046017
6 HNF1B p.Ser148Leu VAR_046018
7 HNF1B p.Ser148Trp VAR_046019 rs121918674
8 HNF1B p.Ser151Pro VAR_046020
9 HNF1B p.His153Asn VAR_046021
10 HNF1B p.Lys156Glu VAR_046022
11 HNF1B p.Lys164Gln VAR_046023
12 HNF1B p.Arg165His VAR_046024 rs121918675
13 HNF1B p.Arg235Gln VAR_046025
14 HNF1B p.Ala241Thr VAR_046026 rs761415487
15 HNF1B p.Glu260Asp VAR_046027 rs536638039
16 HNF1B p.Arg276Gly VAR_046028
17 HNF1B p.Arg276Gln VAR_046029
18 HNF1B p.Gly285Asp VAR_046030
19 HNF1B p.Arg295Cys VAR_046031
20 HNF1B p.Arg295His VAR_046032 rs886043813
21 HNF1B p.Arg295Pro VAR_046033
22 HNF1B p.Gly370Ser VAR_046034 rs113042313

ClinVar genetic disease variations for Renal Cysts and Diabetes Syndrome:

6
(show top 50) (show all 113)
# Gene Variation Type Significance SNP ID Assembly Location
1 HNF1B NM_000458.3(HNF1B): c.529C> T (p.Arg177Ter) single nucleotide variant Pathogenic rs1800575 GRCh37 Chromosome 17, 36099446: 36099446
2 HNF1B NM_000458.3(HNF1B): c.529C> T (p.Arg177Ter) single nucleotide variant Pathogenic rs1800575 GRCh38 Chromosome 17, 37739455: 37739455
3 HNF1B HNF1B, 75-BP DEL, NT409 deletion Pathogenic
4 HNF1B HNF1B, 5-BP DEL deletion Pathogenic
5 HNF1B NM_000458.3(HNF1B): c.301G> T (p.Glu101Ter) single nucleotide variant Pathogenic rs121918671 GRCh37 Chromosome 17, 36104575: 36104575
6 HNF1B NM_000458.3(HNF1B): c.301G> T (p.Glu101Ter) single nucleotide variant Pathogenic rs121918671 GRCh38 Chromosome 17, 37744584: 37744584
7 HNF1B HNF1B, 1-BP DEL deletion Pathogenic
8 HNF1B NM_000458.3(HNF1B): c.826C> T (p.Arg276Ter) single nucleotide variant Pathogenic rs121918672 GRCh37 Chromosome 17, 36091805: 36091805
9 HNF1B NM_000458.3(HNF1B): c.826C> T (p.Arg276Ter) single nucleotide variant Pathogenic rs121918672 GRCh38 Chromosome 17, 37731814: 37731814
10 HNF1B HNF1B, 1-BP INS, 1055A insertion Pathogenic
11 HNF1B HNF1B, IVS2DS, G-A, +1 single nucleotide variant Pathogenic
12 HNF1B HNF1B, IVS2DS, G-T, +1 single nucleotide variant Pathogenic
13 HNF1B NM_000458.3(HNF1B): c.443C> G (p.Ser148Trp) single nucleotide variant Pathogenic rs121918674 GRCh37 Chromosome 17, 36099532: 36099532
14 HNF1B NM_000458.3(HNF1B): c.443C> G (p.Ser148Trp) single nucleotide variant Pathogenic rs121918674 GRCh38 Chromosome 17, 37739541: 37739541
15 HNF1B HNF1B, EX5DUP duplication Pathogenic
16 HNF1B NM_000458.3(HNF1B): c.494G> A (p.Arg165His) single nucleotide variant Pathogenic rs121918675 GRCh37 Chromosome 17, 36099481: 36099481
17 HNF1B NM_000458.3(HNF1B): c.494G> A (p.Arg165His) single nucleotide variant Pathogenic rs121918675 GRCh38 Chromosome 17, 37739490: 37739490
18 HNF1B NM_000458.3(HNF1B): c.1006C> T (p.His336Tyr) single nucleotide variant Likely pathogenic rs138986885 GRCh37 Chromosome 17, 36091625: 36091625
19 HNF1B NM_000458.3(HNF1B): c.1006C> T (p.His336Tyr) single nucleotide variant Likely pathogenic rs138986885 GRCh38 Chromosome 17, 37731634: 37731634
20 HNF1B NM_000458.3(HNF1B): c.1325T> C (p.Met442Thr) single nucleotide variant Likely pathogenic rs193922482 GRCh37 Chromosome 17, 36064938: 36064938
21 HNF1B NM_000458.3(HNF1B): c.1325T> C (p.Met442Thr) single nucleotide variant Likely pathogenic rs193922482 GRCh38 Chromosome 17, 37704931: 37704931
22 HNF1B NM_000458.3(HNF1B): c.140C> T (p.Pro47Leu) single nucleotide variant Likely pathogenic rs193922483 GRCh37 Chromosome 17, 36104736: 36104736
23 HNF1B NM_000458.3(HNF1B): c.140C> T (p.Pro47Leu) single nucleotide variant Likely pathogenic rs193922483 GRCh38 Chromosome 17, 37744745: 37744745
24 HNF1B NM_000458.3(HNF1B): c.221T> A (p.Leu74Ter) single nucleotide variant Likely pathogenic rs193922486 GRCh37 Chromosome 17, 36104655: 36104655
25 HNF1B NM_000458.3(HNF1B): c.221T> A (p.Leu74Ter) single nucleotide variant Likely pathogenic rs193922486 GRCh38 Chromosome 17, 37744664: 37744664
26 HNF1B NM_000458.3(HNF1B): c.344G> A (p.Ser115Asn) single nucleotide variant Likely pathogenic rs193922487 GRCh37 Chromosome 17, 36104532: 36104532
27 HNF1B NM_000458.3(HNF1B): c.344G> A (p.Ser115Asn) single nucleotide variant Likely pathogenic rs193922487 GRCh38 Chromosome 17, 37744541: 37744541
28 HNF1B NM_000458.3(HNF1B): c.345-1G> T single nucleotide variant Likely pathogenic rs193922488 GRCh37 Chromosome 17, 36099631: 36099631
29 HNF1B NM_000458.3(HNF1B): c.345-1G> T single nucleotide variant Likely pathogenic rs193922488 GRCh38 Chromosome 17, 37739640: 37739640
30 HNF1B NM_000458.3(HNF1B): c.477delT (p.Met160Terfs) deletion Likely pathogenic rs193922489 GRCh37 Chromosome 17, 36099498: 36099498
31 HNF1B NM_000458.3(HNF1B): c.477delT (p.Met160Terfs) deletion Likely pathogenic rs193922489 GRCh38 Chromosome 17, 37739507: 37739507
32 HNF1B NM_000458.3(HNF1B): c.511T> C (p.Trp171Arg) single nucleotide variant Likely pathogenic rs193922490 GRCh37 Chromosome 17, 36099464: 36099464
33 HNF1B NM_000458.3(HNF1B): c.511T> C (p.Trp171Arg) single nucleotide variant Likely pathogenic rs193922490 GRCh38 Chromosome 17, 37739473: 37739473
34 HNF1B NM_000458.3(HNF1B): c.703C> T (p.Arg235Trp) single nucleotide variant Likely pathogenic rs193922491 GRCh37 Chromosome 17, 36093656: 36093656
35 HNF1B NM_000458.3(HNF1B): c.703C> T (p.Arg235Trp) single nucleotide variant Likely pathogenic rs193922491 GRCh38 Chromosome 17, 37733663: 37733663
36 HNF1B NM_000458.3(HNF1B): c.949G> T (p.Ala317Ser) single nucleotide variant Likely pathogenic rs193922492 GRCh37 Chromosome 17, 36091682: 36091682
37 HNF1B NM_000458.3(HNF1B): c.949G> T (p.Ala317Ser) single nucleotide variant Likely pathogenic rs193922492 GRCh38 Chromosome 17, 37731691: 37731691
38 HNF1B NM_000458.3(HNF1B): c.962A> G (p.Asn321Ser) single nucleotide variant Likely pathogenic rs193922493 GRCh37 Chromosome 17, 36091669: 36091669
39 HNF1B NM_000458.3(HNF1B): c.962A> G (p.Asn321Ser) single nucleotide variant Likely pathogenic rs193922493 GRCh38 Chromosome 17, 37731678: 37731678
40 HNF1B NM_000458.3(HNF1B): c.244G> A (p.Asp82Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs140562402 GRCh37 Chromosome 17, 36104632: 36104632
41 HNF1B NM_000458.3(HNF1B): c.244G> A (p.Asp82Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs140562402 GRCh38 Chromosome 17, 37744641: 37744641
42 HNF1B NM_000458.3(HNF1B): c.226G> T (p.Gly76Cys) single nucleotide variant Likely benign rs144425830 GRCh37 Chromosome 17, 36104650: 36104650
43 HNF1B NM_000458.3(HNF1B): c.226G> T (p.Gly76Cys) single nucleotide variant Likely benign rs144425830 GRCh38 Chromosome 17, 37744659: 37744659
44 PAX2 NM_003988.4(PAX2): c.511T> C (p.Ser171Pro) single nucleotide variant Uncertain significance rs781489326 GRCh38 Chromosome 10, 100781260: 100781260
45 PAX2 NM_003988.4(PAX2): c.511T> C (p.Ser171Pro) single nucleotide variant Uncertain significance rs781489326 GRCh37 Chromosome 10, 102541017: 102541017
46 HNF1B NM_000458.3(HNF1B): c.1132dupC (p.Gln378Profs) duplication Pathogenic rs1057519371 GRCh37 Chromosome 17, 36070585: 36070585
47 HNF1B NM_000458.3(HNF1B): c.1132dupC (p.Gln378Profs) duplication Pathogenic rs1057519371 GRCh38 Chromosome 17, 37710577: 37710577
48 HNF1B NM_000458.3(HNF1B): c.684C> G (p.Asn228Lys) single nucleotide variant Benign/Likely benign rs202151409 GRCh37 Chromosome 17, 36093675: 36093675
49 HNF1B NM_000458.3(HNF1B): c.684C> G (p.Asn228Lys) single nucleotide variant Benign/Likely benign rs202151409 GRCh38 Chromosome 17, 37733682: 37733682
50 HNF1B NM_000458.3(HNF1B): c.1207A> T (p.Ile403Phe) single nucleotide variant Uncertain significance rs747110790 GRCh37 Chromosome 17, 36065056: 36065056

Expression for Renal Cysts and Diabetes Syndrome

Search GEO for disease gene expression data for Renal Cysts and Diabetes Syndrome.

Pathways for Renal Cysts and Diabetes Syndrome

GO Terms for Renal Cysts and Diabetes Syndrome

Biological processes related to Renal Cysts and Diabetes Syndrome according to GeneCards Suite gene sharing:

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

Molecular functions related to Renal Cysts and Diabetes Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 9.26 HNF1B HNF4A
2 sequence-specific DNA binding GO:0043565 9.16 HNF1B HNF4A
3 transcription regulatory region DNA binding GO:0044212 8.96 HNF1B HNF4A
4 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 8.62 HNF1B HNF4A

Sources for Renal Cysts and Diabetes Syndrome

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7 CNVD
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11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
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32 HPO
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34 ICD10 via Orphanet
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38 LifeMap
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45 MESH via Orphanet
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
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