MCID: RNL078
MIFTS: 49

Renal Dysplasia

Categories: Nephrological diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Renal Dysplasia

MalaCards integrated aliases for Renal Dysplasia:

Name: Renal Dysplasia 55 28 51
Renal Cell Dysplasia 69

Characteristics:

Orphanet epidemiological data:

55
renal dysplasia
Inheritance: Not applicable; Prevalence: 1-5/10000 (Europe); Age of onset: All ages,Antenatal; Age of death: any age;

Classifications:



External Ids:

Orphanet 55 ORPHA93108
UMLS via Orphanet 70 C3536714
ICD10 via Orphanet 33 Q61.4
ICD10 32 Q61.4
UMLS 69 C0235831

Summaries for Renal Dysplasia

MalaCards based summary : Renal Dysplasia, also known as renal cell dysplasia, is related to multicystic dysplastic kidney and renal hypodysplasia/aplasia 1. An important gene associated with Renal Dysplasia is REN (Renin), and among its related pathways/superpathways are Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and Adipogenesis. The drugs Ropivacaine and Ibuprofen have been mentioned in the context of this disorder. Affiliated tissues include kidney, uterus and testis, and related phenotypes are cardiovascular system and behavior/neurological

Related Diseases for Renal Dysplasia

Diseases related to Renal Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 198)
# Related Disease Score Top Affiliating Genes
1 multicystic dysplastic kidney 32.2 PAX2 REN
2 renal hypodysplasia/aplasia 1 31.9 GDNF PAX2 SALL1
3 congenital hepatic fibrosis 29.2 AGTR1 REN
4 posterior urethral valves 28.8 ACE AGT AGTR1
5 vesicoureteral reflux 1 28.5 AGT AGTR1 PAX2 REN
6 hypertensive heart disease 28.3 ACE AGT AGTR1
7 stroke, ischemic 28.3 ACE AGTR1 GDNF REN
8 oligohydramnios 28.3 ACE AGT AGTR1 REN
9 malignant hypertension 28.0 ACE AGT AGTR1 REN
10 renal dysplasia-limb defects syndrome 12.3
11 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 12.1
12 renal dysplasia, cystic 12.1
13 torticollis, keloids, cryptorchidism, and renal dysplasia 12.0
14 renal dysplasia diffuse cystic 12.0
15 renal dysplasia, unilateral 11.9
16 renal dysplasia, bilateral 11.9
17 renal dysplasia diffuse autosomal recessive 11.8
18 congenital anomalies of kidney and urinary tract 2 11.8
19 hypoparathyroidism, sensorineural deafness, and renal disease 11.6
20 bilateral multicystic dysplastic kidney 11.3
21 short-rib thoracic dysplasia 9 with or without polydactyly 11.2
22 senior-loken syndrome 1 11.2
23 unilateral multicystic dysplastic kidney 11.1
24 selig benacerraf greene syndrome 11.1
25 perlman syndrome 11.1
26 say syndrome 11.1
27 bardet-biedl syndrome 10 11.1
28 vater/vacterl association 11.1
29 nail-patella syndrome 11.1
30 senior-løken syndrome 10.9
31 renal hypodysplasia/aplasia 2 10.9
32 renal-hepatic-pancreatic dysplasia 10.9
33 mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies 10.8
34 brachymesomelia-renal syndrome 10.8
35 branchiootorenal syndrome 1 10.8
36 urethral obstruction sequence 10.8
37 fraser jequier chen syndrome 10.8
38 branchiootorenal syndrome 2 10.8
39 culler-jones syndrome 10.7
40 alagille syndrome 1 10.7
41 thauvin-robinet-faivre syndrome 10.7
42 bifid nose with or without anorectal and renal anomalies 10.7
43 pallister-hall syndrome 10.7
44 corpus callosum, agenesis of, with abnormal genitalia 10.7
45 acrocephalopolydactylous dysplasia 10.7
46 fanconi anemia, complementation group b 10.7
47 oligomeganephronic renal hypoplasia 10.7
48 septopreoptic holoprosencephaly 10.4 GLI2 SHH
49 midline interhemispheric variant of holoprosencephaly 10.4 GLI2 SHH
50 microform holoprosencephaly 10.2 GLI2 SHH

Graphical network of the top 20 diseases related to Renal Dysplasia:



Diseases related to Renal Dysplasia

Symptoms & Phenotypes for Renal Dysplasia

MGI Mouse Phenotypes related to Renal Dysplasia:

43 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.29 ACE AGT AGTR1 BICC1 BMP2 GATA3
2 behavior/neurological MP:0005386 10.22 ACE AGT AGTR1 BICC1 GDNF GLI2
3 growth/size/body region MP:0005378 10.21 ACE AGT AGTR1 BICC1 BMP2 GATA3
4 mortality/aging MP:0010768 10.2 ACE AGT AGTR1 BICC1 BMP2 EBF3
5 embryo MP:0005380 10.13 SALL1 SHH BICC1 BMP2 GATA3 GLI2
6 homeostasis/metabolism MP:0005376 10.11 ACE AGT AGTR1 BICC1 BMP2 GATA3
7 endocrine/exocrine gland MP:0005379 10.06 ACE BICC1 GATA3 GDNF GLI2 HNF1B
8 digestive/alimentary MP:0005381 10.04 BICC1 BMP2 GATA3 GDNF GLI2 SALL1
9 nervous system MP:0003631 9.93 BMP2 EBF3 GATA3 GDNF GLI2 LMX1B
10 hearing/vestibular/ear MP:0005377 9.88 BMP2 GATA3 GLI2 PAX2 SALL1 SHH
11 muscle MP:0005369 9.86 AGT GATA3 GDNF GLI2 HNF1B LMX1B
12 renal/urinary system MP:0005367 9.73 ACE AGT AGTR1 BICC1 GATA3 GDNF
13 reproductive system MP:0005389 9.32 GDNF GLI2 PAX2 REN SHH ACE

Drugs & Therapeutics for Renal Dysplasia

Drugs for Renal Dysplasia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ropivacaine Approved 84057-95-4 175805 71273
2
Ibuprofen Approved 15687-27-1 3672
3 Central Nervous System Depressants
4 Anesthetics
5 Anesthetics, Local
6 Peripheral Nervous System Agents
7 Analgesics
8 Cyclooxygenase Inhibitors
9 Analgesics, Non-Narcotic
10 Anti-Inflammatory Agents
11 Anti-Inflammatory Agents, Non-Steroidal
12 Antirheumatic Agents
13 diuretics
14 Natriuretic Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Amniotic Biomarkers in the Prediction of Postpartum Renal Function. Unknown status NCT02675686
2 The Correlation Between Renal Injury and Biomarkers in Pediatric Ureteropelvic Junction Obstruction Patients Unknown status NCT01711996
3 Ureteropelvic Junction Obstruction in Early Childhood: Comparison of Surgical Therapy and Surveillance. A Prospective, Randomized, Controlled Multi-Center Study Unknown status NCT00444431
4 The Efficacy and Safety of Local Anesthetic Infusion With Ropivacaine Completed NCT00930046
5 Dismembered Pyeloplasty With and Without After Coming Stent Completed NCT02138877
6 Indwelling Double-J Ureteral Stent Versus Externalized Modified-Salle Stent for Pyeloplasty Recruiting NCT02713633
7 Randomized Trial of NSAID vs Placebo Prior to Ureteral Stent Removal Recruiting NCT02140970 Ibuprofen;Placebo
8 Diagnostic Relevance of Laser Confocal Microscopy for the Screening of Upper Urinary Tract Tumors Active, not recruiting NCT02276924
9 Ambulatory Blood Pressure Measurement in Children With Congenital Urine Flow Obstruction Available NCT00764543
10 CTT on Renogram as an Early Marker of Significant Obstruction in Uretero-pelvic Junction Syndrome Not yet recruiting NCT02812212

Search NIH Clinical Center for Renal Dysplasia

Genetic Tests for Renal Dysplasia

Genetic tests related to Renal Dysplasia:

# Genetic test Affiliating Genes
1 Renal Dysplasia 28 ACE AGT AGTR1 REN

Anatomical Context for Renal Dysplasia

MalaCards organs/tissues related to Renal Dysplasia:

38
Kidney, Uterus, Testis, Pituitary, Prostate, Placenta, Heart

Publications for Renal Dysplasia

Articles related to Renal Dysplasia:

(show top 50) (show all 351)
# Title Authors Year
1
The hypoparathyroidism-deafness-renal dysplasia syndrome: A case report. ( 29398643 )
2018
2
Unilateral multicystic renal dysplasia: Prenatal diagnosis on ultrasound. ( 28748898 )
2017
3
Renal dysplasia characterized by prominent cartilaginous metaplasia lesions in VACTERL association: A case report. ( 28403078 )
2017
4
A questionnaire survey of radiological diagnosis and management of renal dysplasia in children. ( 28647851 )
2017
5
Unusual Proliferative Glomerulonephritis in a Patient Diagnosed to Have Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia (HDR) Syndrome with a Novel Mutation in the GATA3 Gene. ( 28566604 )
2017
6
A Novel De novo GATA-binding Protein 3 Mutation in a Patient with Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia Syndrome. ( 28524840 )
2017
7
Clinical Auditory Phenotypes Associated with GATA3 Gene Mutations in Familial Hypoparathyroidism-deafness-renal Dysplasia Syndrome. ( 28303854 )
2017
8
Hypoparathyroidism, Deafness & Renal Dysplasia (HDR) Syndrome & GATA3. ( 29025137 )
2017
9
Unilateral congenital giant megaureter with renal dysplasia compressing contralateral ureter and causing bilateral hydronephrosis: a case report and literature review. ( 26860315 )
2016
10
Stromal I^-catenin overexpression contributes to the pathogenesis of renal dysplasia. ( 26956838 )
2016
11
A recessive syndrome of intellectual disability, moderate overgrowth, and renal dysplasia predisposing to Wilms tumor is caused by a mutation in FIBP gene. ( 27183861 )
2016
12
Renal dysplasia in the neonate. ( 26849006 )
2016
13
EP10.04: Congenital dwarfism with renal dysplasia: case report. ( 27645547 )
2016
14
Clinical and mutational spectrum of hypoparathyroidism, deafness and renal dysplasia syndrome. ( 27387476 )
2016
15
Potential Usefulness of 99mTc-DMSA for Radio-Guided Surgery in Pediatric Renal Dysplasia. ( 26462041 )
2015
16
A novel loss-of-function mutation of GATA3 (p.R299Q) in a Japanese family with Hypoparathyroidism, Deafness, and Renal Dysplasia (HDR) syndrome. ( 26514990 )
2015
17
Renal dysplasia. ( 25822765 )
2015
18
Bilateral Renal Dysplasia, Nephroblastomatosis, and Bronchial Stenosis. A New Syndrome? ( 25871299 )
2015
19
Bilateral renal dysplasia, hydronephrosis, and hydroureter in a septic neonatal foal. ( 25750445 )
2015
20
Renal dysplasia in Bardet-Biedl syndrome. ( 26076793 )
2015
21
The Syndrome of Familial Hypoparathyroidism, Sensorineural Deafness and Renal Dysplasia. ( 26710407 )
2015
22
A Novel De Novo GATA Binding Protein 3 Mutation in a Turkish Boy with Hypoparathyroidism, Deafness, and Renal Dysplasia Syndrome. ( 26777049 )
2015
23
Tumoral calcinosis in a patient with hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome undergoing hemodialysis. ( 25767699 )
2015
24
The Good and Bad of I^-Catenin in Kidney Development and Renal Dysplasia. ( 26734608 )
2015
25
The First Turkish Case of Hypoparathyroidism, Deafness and Renal Dysplasia (HDR) Syndrome. ( 26316437 )
2015
26
Spontaneous unilateral renal dysplasia in a clinically healthy cynomolgus monkey (Macaca fascicularis). ( 25053241 )
2014
27
Fetal and Postnatal Magnetic Resonance Imaging of Unilateral Cystic Renal Dysplasia in a Neonate with Tuberous Sclerosis. ( 24495558 )
2014
28
Bilateral diffuse cystic renal dysplasia in a 9-day-old Thoroughbred filly. ( 24489392 )
2014
29
I^-catenin overexpression in the metanephric mesenchyme leads to renal dysplasia genesis via cell-autonomous and non-cell-autonomous mechanisms. ( 24637293 )
2014
30
Allelic variation in the canine Cox-2 promoter causes hypermethylation of the canine Cox-2 promoter in clinical cases of renal dysplasia. ( 24708682 )
2014
31
TCF2/HNF-1beta mutations: 3 cases of fetal severe pancreatic agenesis or hypoplasia and multicystic renal dysplasia. ( 24382792 )
2014
32
Non-invasive renal artery embolization for renal dysplasia accompanied by hypertension. ( 24548196 )
2014
33
Renal dysplasia with the ipsilateral ectopic ureter mimicking abscess of the prostate. ( 24665582 )
2014
34
GATA3 mutation in a family with hypoparathyroidism, deafness and renal dysplasia syndrome. ( 25124981 )
2014
35
Neonatal diagnosis of a patient with hypoparathyroidism, sensorineural deafness and renal dysplasia (HDR) syndrome associated with cerebral infarction. ( 24859509 )
2014
36
Ectopic ureter, renal dysplasia, and recurrent epididymitis in an infant: case report and review of the literature. ( 25356227 )
2014
37
The Perlman syndrome: familial renal dysplasia with Wilms tumor, fetal gigantism and multiple congenital anomalies. ( 24166810 )
2013
38
Ahsa1 and Hsp90 activity confers more severe craniofacial phenotypes in a zebrafish model of hypoparathyroidism, sensorineural deafness and renal dysplasia (HDR). ( 23720234 )
2013
39
Caroli disease, bilateral diffuse cystic renal dysplasia, situs inversus, postaxial polydactyly, and preauricular fistulas: a ciliopathy caused by a homozygous NPHP3 mutation. ( 21845392 )
2013
40
Primary intra-renal teratoma associated with renal dysplasia: an unusual entity. ( 24426520 )
2013
41
Parathyroid hormone-independent hypercalcemia in an infant with renal dysplasia: possible role of PTHrP. ( 23327815 )
2013
42
A rare case of renal dysplasia: prenatal and postnatal management. ( 23688419 )
2013
43
Double homozygous missense mutations in DACH1 and BMP4 in a patient with bilateral cystic renal dysplasia. ( 23262432 )
2013
44
Transumbilical multiport laparoscopic nephroureterectomy for congenital renal dysplasia in children: midterm follow-up from a single institution. ( 24400291 )
2013
45
A novel GATA3 nonsense mutation in a newly diagnosed adult patient of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome. ( 23186964 )
2013
46
Pediatric hydronephrotic segmental renal dysplasia with ipsilateral ureterovesical obstruction--rare coincidence or a consequence? ( 22414265 )
2012
47
Matrilysin (MMP-7) inhibition of BMP-7 induced renal tubular branching morphogenesis suggests a role in the pathogenesis of human renal dysplasia. ( 22215634 )
2012
48
Dilated ureters, renal dysplasia, and chronic renal failure in an African elephant (Loxodonta africana). ( 22448523 )
2012
49
Renal dysplasia in grey Alpine breed cattle unrelated to CLDN16 mutations. ( 22021062 )
2012
50
Two mutations in human BICC1 resulting in Wnt pathway hyperactivity associated with cystic renal dysplasia. ( 21922595 )
2012

Variations for Renal Dysplasia

ClinVar genetic disease variations for Renal Dysplasia:

6 (show all 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 REN NM_000537.3(REN): c.145C> T (p.Arg49Ter) single nucleotide variant Pathogenic rs121917741 GRCh37 Chromosome 1, 204131245: 204131245
2 REN NM_000537.3(REN): c.689G> A (p.Arg230Lys) single nucleotide variant Pathogenic rs121917742 GRCh37 Chromosome 1, 204128527: 204128527
3 ACE NM_000789.3(ACE): c.1319_1322delTGGA (p.Leu440Profs) deletion Pathogenic rs387906576 GRCh38 Chromosome 17, 63482666: 63482669
4 ACE NM_000789.3(ACE): c.798C> G (p.Tyr266Ter) single nucleotide variant Pathogenic rs121912704 GRCh37 Chromosome 17, 61557840: 61557840
5 AGTR1 NM_031850.3(AGTR1): c.215dupT (p.Ile73Hisfs) duplication Pathogenic rs387906577 GRCh37 Chromosome 3, 148458932: 148458932
6 AGTR1 NM_031850.3(AGTR1): c.950C> T (p.Thr317Met) single nucleotide variant Pathogenic rs104893677 GRCh37 Chromosome 3, 148459667: 148459667
7 AGT NM_000029.3(AGT): c.1124G> A (p.Arg375Gln) single nucleotide variant Pathogenic rs74315283 GRCh37 Chromosome 1, 230841679: 230841679
8 AGT NM_000029.3(AGT): c.604C> T (p.Gln202Ter) single nucleotide variant Pathogenic rs121912702 GRCh37 Chromosome 1, 230845993: 230845993
9 AGT NM_000029.3(AGT): c.1290delT (p.Phe430Leufs) deletion Pathogenic rs387906578 GRCh37 Chromosome 1, 230839055: 230839055
10 REN NM_000537.3(REN): c.404C> A (p.Ser135Tyr) single nucleotide variant Pathogenic rs397514691 GRCh37 Chromosome 1, 204129776: 204129776
11 AGTR1 NM_031850.3(AGTR1): c.356G> A (p.Trp119Ter) single nucleotide variant Pathogenic/Likely pathogenic rs398122935 GRCh37 Chromosome 3, 148459073: 148459073
12 AGTR1 NM_031850.3(AGTR1): c.481C> T (p.Arg161Ter) single nucleotide variant Pathogenic rs397514687 GRCh37 Chromosome 3, 148459198: 148459198
13 ACE NM_000789.3(ACE): c.1486C> T (p.Arg496Ter) single nucleotide variant Pathogenic rs397514688 GRCh37 Chromosome 17, 61560533: 61560533
14 ACE NM_000789.3(ACE): c.2371C> T (p.Arg791Ter) single nucleotide variant Pathogenic rs397514689 GRCh37 Chromosome 17, 61566074: 61566074
15 REN NM_000537.3(REN): c.127C> T (p.Arg43Ter) single nucleotide variant Pathogenic rs397514690 GRCh37 Chromosome 1, 204131263: 204131263
16 ACE NM_000789.3(ACE): c.12_31del20 (p.Ser5Alafs) deletion Pathogenic rs797045079 GRCh38 Chromosome 17, 63477106: 63477125
17 ACE NM_000789.3(ACE): c.1522C> T (p.Arg508Ter) single nucleotide variant Pathogenic/Likely pathogenic rs367797185 GRCh37 Chromosome 17, 61560855: 61560855
18 EBF3 NM_001005463.2(EBF3): c.512G> A (p.Gly171Asp) single nucleotide variant Pathogenic rs1057519437 GRCh37 Chromosome 10, 131755564: 131755564

Expression for Renal Dysplasia

Search GEO for disease gene expression data for Renal Dysplasia.

Pathways for Renal Dysplasia

GO Terms for Renal Dysplasia

Biological processes related to Renal Dysplasia according to GeneCards Suite gene sharing:

(show top 50) (show all 68)
# Name GO ID Score Top Affiliating Genes
1 in utero embryonic development GO:0001701 9.99 BMP2 GATA3 GLI2 LMX1B
2 axon guidance GO:0007411 9.98 GATA3 GDNF GLI2 SHH
3 heart development GO:0007507 9.93 BICC1 BMP2 GLI2 SALL1 SHH
4 anterior/posterior pattern specification GO:0009952 9.89 GLI2 HNF1B SHH
5 regulation of blood pressure GO:0008217 9.87 ACE AGT REN
6 embryonic digit morphogenesis GO:0042733 9.86 GLI2 SALL1 SHH
7 odontogenesis of dentin-containing tooth GO:0042475 9.85 BMP2 GLI2 SHH
8 positive regulation of Wnt signaling pathway GO:0030177 9.81 BMP2 SALL1 SHH
9 positive regulation of transcription, DNA-templated GO:0045893 9.81 AGT BMP2 EBF3 GATA3 GLI2 HNF1B
10 dorsal/ventral pattern formation GO:0009953 9.8 GLI2 LMX1B SHH
11 developmental growth GO:0048589 9.76 GATA3 GLI2 SHH
12 positive regulation of cell differentiation GO:0045597 9.76 BMP2 GATA3 GDNF SHH
13 branching morphogenesis of an epithelial tube GO:0048754 9.75 GLI2 HNF1B SHH
14 renal system development GO:0072001 9.74 GATA3 SHH
15 embryonic digestive tract morphogenesis GO:0048557 9.74 HNF1B SHH
16 spinal cord motor neuron differentiation GO:0021522 9.74 GLI2 SHH
17 embryonic digestive tract development GO:0048566 9.73 GLI2 SALL1
18 osteoblast development GO:0002076 9.73 GLI2 SHH
19 cell fate determination GO:0001709 9.73 GATA3 PAX2
20 positive regulation of cellular protein metabolic process GO:0032270 9.73 AGT AGTR1
21 prostate gland development GO:0030850 9.73 GLI2 SHH
22 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.73 AGT AGTR1
23 regulation of vasoconstriction GO:0019229 9.73 ACE AGT AGTR1
24 sympathetic nervous system development GO:0048485 9.72 GATA3 GDNF
25 anatomical structure development GO:0048856 9.72 GLI2 SHH
26 embryonic morphogenesis GO:0048598 9.72 HNF1B SHH
27 dorsal/ventral neural tube patterning GO:0021904 9.72 GLI2 SHH
28 hindbrain development GO:0030902 9.72 GLI2 HNF1B SHH
29 amyloid-beta metabolic process GO:0050435 9.71 ACE REN
30 regulation of blood vessel diameter GO:0097746 9.71 ACE AGTR1
31 low-density lipoprotein particle remodeling GO:0034374 9.71 AGT AGTR1
32 positive regulation of T cell differentiation in thymus GO:0033089 9.7 GLI2 SHH
33 positive regulation of cholesterol esterification GO:0010873 9.7 AGT AGTR1
34 mesenchymal to epithelial transition GO:0060231 9.7 GATA3 PAX2
35 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.7 AGT GDNF PAX2
36 positive regulation of transcription by RNA polymerase II GO:0045944 9.7 BMP2 CDC5L EBF3 GATA3 GDNF GLI2
37 telencephalon regionalization GO:0021978 9.69 BMP2 SHH
38 anatomical structure formation involved in morphogenesis GO:0048646 9.69 GATA3 GLI2 SHH
39 pronephros development GO:0048793 9.67 HNF1B PAX2
40 spinal cord dorsal/ventral patterning GO:0021513 9.67 GLI2 SHH
41 mesonephros development GO:0001823 9.67 GATA3 PAX2 REN
42 positive regulation of NAD(P)H oxidase activity GO:0033864 9.66 AGT AGTR1
43 smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation GO:0021938 9.66 GLI2 SHH
44 positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis GO:0072108 9.65 GDNF PAX2
45 ureteric bud formation GO:0060676 9.65 GATA3 GDNF
46 positive regulation of ureteric bud formation GO:0072107 9.65 GATA3 GDNF
47 angiotensin maturation GO:0002003 9.65 ACE AGT REN
48 branching involved in ureteric bud morphogenesis GO:0001658 9.65 BMP2 GDNF PAX2 SALL1 SHH
49 hindgut morphogenesis GO:0007442 9.64 GLI2 SHH
50 ureter maturation GO:0035799 9.64 GATA3 PAX2

Molecular functions related to Renal Dysplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.97 CDC5L EBF3 GATA3 GLI2 HNF1B LMX1B
2 sequence-specific DNA binding GO:0043565 9.73 CDC5L GATA3 GLI2 HNF1B LMX1B SALL1
3 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.62 CDC5L GATA3 HNF1B LMX1B
4 proximal promoter sequence-specific DNA binding GO:0000987 9.33 GATA3 HNF1B PAX2
5 transcription regulatory region DNA binding GO:0044212 9.1 CDC5L GATA3 GLI2 HNF1B PAX2 SALL1
6 bradykinin receptor binding GO:0031711 8.96 ACE AGTR1

Sources for Renal Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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