MCID: WLM007
MIFTS: 55

Wilms Tumor Susceptibility-5

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

Aliases & Classifications for Wilms Tumor Susceptibility-5

MalaCards integrated aliases for Wilms Tumor Susceptibility-5:

Name: Wilms Tumor Susceptibility-5 54 13
Wilms Tumor 54 38 24 56 13 52 41 42
Nephroblastoma 12 50 56 29 14 69
Bilateral Wilms Tumor 50 69
Wilms Tumor, Somatic 54 24
Renal Wilms' Tumor 12 14
Wilms Tumor 1 71 29
Wilms' Tumor 12 50
Wt1 50 71
Hereditary Susceptibility to Wilms Tumor 5 71
Nonanaplastic Renal Wilm's Tumor 12
Nonanaplastic Kidney Wilms Tumor 69
Nonanaplastic Renal Wilms Tumor 12
Childhood Renal Wilms' Cancer 12
Childhood Kidney Wilms Tumor 69
Childhood Renal Wilms Tumor 12
Adult Renal Wilms' Tumor 12
Adult Kidney Wilms Tumor 69
Renal Embryonic Tumor 56
Adult Nephroblastoma 12
Wilms Tumor, Type 1 54
Renal Wilms Tumor 12
Wilms Tumor-1 13
Wt5 71

Characteristics:

Orphanet epidemiological data:

56
nephroblastoma
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/1000000 (Europe),1-9/100000 (Europe),1-9/1000000 (United Kingdom),1-5/10000 (Europe); Age of onset: Childhood; Age of death: any age;

OMIM:

54
Inheritance:
autosomal dominant
somatic mutation

Miscellaneous:
genetic heterogeneity
most cases are sporadic
tumor suppressor gene
majority of wilms tumors are sporadic
onset between 2-5 years
rare adult cases reported
5-10% of all wilms tumor are bilateral
21% of hereditary wilms tumor are bilateral
associated with several congenital malformation syndromes (wagr , abnormal urogenital development syndromes)
two-step mutation hypothesis (germline mutation followed by somatic mutation or two sequential somatic mutations)
loss of tumor suppressor gene
associated with several loci on chromosomes 11p15 (wt2, ), 16 (wt3, ), 17 (wt4, ), and 7 (wt5, ).


HPO:

32
wilms tumor susceptibility-5:
Inheritance somatic mutation autosomal dominant inheritance


Classifications:

Orphanet: 56  
Rare renal diseases


Summaries for Wilms Tumor Susceptibility-5

NIH Rare Diseases : 50 the following summary is from orphanet, a european reference portal for information on rare diseases and orphan drugs.orpha number: 654disease definitionnephroblastoma is the most frequent malignant renal tumor in children and is associated with an abnormal proliferation of cells that resemble the kidney cells of an embryo (metanephroma), leading to the term embryonal tumor.epidemiologythe annual incidence is estimated at about 1/10,000 births and it affects boys as well as girls.clinical descriptionnephroblastoma mainly affects young children, between the ages 1 and 5 years, but 15% of nephroblastomas occur before the age of 1 year and 2% after the age of 8 years. adult forms are very rare. an abdominal mass (unilateral in most cases) is frequently present. patients sometimes experience abdominal pain (around 10% of cases), hypertension, fever (20% of cases), hematuria and anemia. the evolution of the disease is very rapid, with regional dissemination in the retroperitoneal space, lymph nodes, vessels (renal vein and inferior vena cava) and in the peritoneal cavity in cases of tumor effraction, and a strong likelihood of metastases in the lungs and liver.etiologynephroblastoma is sporadic in 99% of cases and, among these cases, 10% are associated with congenital anomalies (aniridia, hemihypertrophy, genitourinary defects) or form part of specific syndromes (beckwith-wiedemann, denys-drash, wagr or perlman syndromes; see these terms). genetic anomalies found in different chromosomal regions, including 11p13 (containing the wt1 gene), 11p15.5 (containing the h19 gene), 16q, 1p, 1q and 17p, have been found within the tumors. familial forms are very rare (1% of cases) and are transmitted in an autosomal dominant fashion.diagnostic methodsdiagnosis is based on imagery, particularly ct or mri scans. the concentration of urinary metabolites of catecholamines is normal. analysis of the extent of the disease is also conducted using imagery (ultrasound and abdominal ct analyzing particularly the liver and contralateral kidney, and thoracic radiography and ct).differential diagnosisdifferential diagnoses include other renal tumors in children such as mesoblastic nephroma (especially in infants), clear cell sarcoma, neuroblastoma (extremely rare in the kidney but may invade the kidney by contiguity), rhabdoid tumors (see these terms) and metanephric stromal tumors.management and treatmentdisease management is multidisciplinary and may involve chemotherapy and surgery with or without radiotherapy. chemotherapy enables preoperative reduction in tumor size and eradicates metastases. surgery should be accomplished without tumor effraction, which usually means that total nephrectomy is required. nephroblastoma can be confirmed on microscopic examination, which also allows the stage of the tumor in the kidney to be evaluated. this in turn determines the choice of post-operative chemotherapy. radiotherapy is reserved for the most extensive cases or cases with the least favorable histology.prognosisin the majority of cases, the prognosis is favorable with a survival rate of over 90%. adult forms have the same prognosis and should be treated following the same methods, even when adult patients tolerate chemotherapy less well than children (which may lead to a reduction in treatment and as a result a worse prognosis).visit the orphanet disease page for more resources. last updated: 3/10/2010

MalaCards based summary : Wilms Tumor Susceptibility-5, also known as wilms tumor, is related to cervical wilms' tumor and renal dysplasia, and has symptoms including hematuria, hypertension and fever. An important gene associated with Wilms Tumor Susceptibility-5 is WT1 (Wilms Tumor 1), and among its related pathways/superpathways are Primary Focal Segmental Glomerulosclerosis FSGS and ID signaling pathway. Affiliated tissues include kidney, lung and liver, and related phenotypes are cellular and cardiovascular system

UniProtKB/Swiss-Prot : 71 Hereditary susceptibility to Wilms tumor 5: Pediatric malignancy of kidney and one of the most common solid cancers in childhood. Wilms tumor 1: Embryonal malignancy of the kidney that affects approximately 1 in 10'000 infants and young children. It occurs both in sporadic and hereditary forms.

MedlinePlus : 41 wilms tumor is a rare type of kidney cancer. it causes a tumor on one or both kidneys. it usually affects children, but can happen in adults. having certain genetic conditions or birth defects can increase the risk of getting it. children that are at risk should be screened for wilms tumor every three months until they turn eight. symptoms include a lump in the abdomen, blood in the urine, and a fever for no reason. tests that examine the kidney and blood are used to find the tumor. doctors usually diagnose and remove the tumor in surgery. other treatments include chemotherapy and radiation and biologic therapies. biologic therapy boosts your body's own ability to fight cancer. nih: national cancer institute

OMIM : 54
Wilms tumor is the most common renal tumor of childhood, occurring with an incidence of 1 in 10,000 and with a median age of diagnosis between 3 and 4 years of age. Wilms tumours are thought to develop from abnormally persistent embryonal cells within nephrogenic rests. Histologically, Wilms tumor mirrors the development of the normal kidney and classically consists of 3 cell types: blastema, epithelia, and stroma (summary by Slade et al., 2010). (194070)

Disease Ontology : 12 A kidney cancer that affects the kidneys and typically located in children.

Related Diseases for Wilms Tumor Susceptibility-5

Diseases related to Wilms Tumor Susceptibility-5 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 255)
id Related Disease Score Top Affiliating Genes
1 cervical wilms' tumor 34.6 CDKN1C IGF2 PAX6 REST WT1
2 renal dysplasia 31.4 NPHS1 WT1
3 wilms tumor 6 12.2
4 perlman syndrome 12.0
5 denys-drash syndrome 12.0
6 wagr syndrome 12.0
7 familial wilms tumor 12.0
8 wilms tumor predisposition 12.0
9 wilms tumor and radial bilateral aplasia 11.9
10 hereditary wilms' tumor 11.9
11 epithelial predominant wilms' tumor 11.9
12 wilms tumor 2 11.9
13 metachronous kidney wilms' tumor 11.9
14 mixed cell type kidney wilms' tumor 11.9
15 blastema predominant kidney wilms' tumor 11.9
16 stromal predominant kidney wilms' tumor 11.9
17 global developmental delay-lung cysts-overgrowth-wilms tumor syndrome 11.8
18 familial wilms tumor 2 11.8
19 wilms tumor-aniridia-genital anomalies-retardation syndrome 11.8
20 frasier syndrome 11.4
21 mulibrey nanism 11.3
22 aniridia 11.3
23 beckwith-wiedemann syndrome 11.2
24 high-grade dysplasia in patients with barrett esophagus 11.2 H19 IGF2
25 familial rhabdoid tumor 11.2 H19 IGF2
26 hallermann-streiff syndrome 11.1 H19 IGF2
27 aapoaii amyloidosis 11.1 H19 IGF2
28 secondary non-traumatic avascular necrosis 11.1 CDKN1C IGF2
29 skin granular cell tumor 11.1 IGF2 PAX6 WT1
30 breast abscess 11.1 CDKN1C H19 IGF2
31 wrinkles 11.1 H19 PAX6 WT1
32 menkes disease 11.1 IGF2 POU6F2 WT1
33 hyperferritinemia-cataract syndrome 11.1 NPHS1 PAX2 WT1
34 biliary tract neoplasm 11.1 IGF2 PAX2 PAX8
35 ovarian stromal hyperthecosis 11.1 PAX2 PAX8
36 postpoliomyelitis syndrome 11.0 H19 PAX2 PAX8
37 prion disease 11.0 PAX2 PAX8
38 digestive system melanoma 11.0 NPHS1 PAX2 WT1
39 nodular tenosynovitis 11.0 PAX2 PAX8 WT1
40 adult endodermal sinus tumor 11.0 PAX2 PAX8
41 hemoglobin zurich 11.0 CDKN1C H19 IGF2 WT1
42 liposarcoma of bone 11.0 EWSR1 WT1
43 mucinous adenofibroma 11.0 PAX2 WT1
44 perivascular epithelioid cell tumor 11.0 PAX2 PAX8 WT1
45 colon signet ring adenocarcinoma 11.0 BRCA2 CTNNB1 IGF2
46 infant gynecomastia 11.0 PAX2 PAX6
47 dental caries 11.0 BRCA2 PAX8 WT1
48 nasal cavity disease 11.0 BRCA2 PAX8 WT1
49 mediastinum rhabdomyosarcoma 11.0 EWSR1 IGF2 WT1
50 exotropia 11.0 PAX8 WT1

Graphical network of the top 20 diseases related to Wilms Tumor Susceptibility-5:



Diseases related to Wilms Tumor Susceptibility-5

Symptoms & Phenotypes for Wilms Tumor Susceptibility-5

Symptoms via clinical synopsis from OMIM:

54

Neoplasia:
nephroblastoma (wilms tumor)
nephroblastoma

Genitourinary- Kidneys:
nephroblastoma (wilms tumor)
nephroblastoma


Clinical features from OMIM:

601583 194070

Human phenotypes related to Wilms Tumor Susceptibility-5:

56 32 (show all 11)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hematuria 56 32 occasional (7.5%) Occasional (29-5%) HP:0000790
2 hypertension 56 32 occasional (7.5%) Occasional (29-5%) HP:0000822
3 fever 56 32 occasional (7.5%) Occasional (29-5%) HP:0001945
4 abdominal pain 56 32 hallmark (90%) Very frequent (99-80%) HP:0002027
5 lymphadenopathy 56 32 occasional (7.5%) Occasional (29-5%) HP:0002716
6 weight loss 56 32 occasional (7.5%) Occasional (29-5%) HP:0001824
7 aniridia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000526
8 nephroblastoma 56 32 hallmark (90%) Very frequent (99-80%) HP:0002667
9 neoplasm of the lung 56 32 occasional (7.5%) Occasional (29-5%) HP:0100526
10 neoplasm of the liver 56 32 occasional (7.5%) Occasional (29-5%) HP:0002896
11 neoplasm 56 Very frequent (99-80%)

UMLS symptoms related to Wilms Tumor Susceptibility-5:


abdominal pain

MGI Mouse Phenotypes related to Wilms Tumor Susceptibility-5:

44 (show all 11)
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.26 BRCA2 CTNNB1 EGR1 GPC3 IGF2 NOV
2 cardiovascular system MP:0005385 10.24 CTNNB1 EGR1 GPC3 IGF2 NOV NR5A1
3 mortality/aging MP:0010768 10.21 BRCA2 CTNNB1 EGR1 GPC3 IGF2 NOV
4 embryo MP:0005380 10.2 BRCA2 CTNNB1 EGR1 GPC3 IGF2 NR5A1
5 endocrine/exocrine gland MP:0005379 10.09 BRCA2 CTNNB1 EGR1 IGF2 NR5A1 PAX2
6 nervous system MP:0003631 10 CTNNB1 EGR1 IGF2 NPHS1 NR5A1 PAX2
7 limbs/digits/tail MP:0005371 9.95 BRCA2 CTNNB1 EGR1 GPC3 IGF2 NOV
8 renal/urinary system MP:0005367 9.85 CTNNB1 GPC3 IGF2 NOV NPHS1 PAX2
9 neoplasm MP:0002006 9.8 EGR1 PAX6 PRDM2 WT1 BRCA2 CTNNB1
10 reproductive system MP:0005389 9.7 PAX6 PAX8 REST WT1 BRCA2 CTNNB1
11 vision/eye MP:0005391 9.23 CTNNB1 EGR1 IGF2 NOV PAX2 PAX6

Drugs & Therapeutics for Wilms Tumor Susceptibility-5

Search Clinical Trials , NIH Clinical Center for Wilms Tumor Susceptibility-5

Cochrane evidence based reviews: wilms tumor

Genetic Tests for Wilms Tumor Susceptibility-5

Genetic tests related to Wilms Tumor Susceptibility-5:

id Genetic test Affiliating Genes
1 Wilms Tumor 1 29
2 Nephroblastoma 29
3 Wilms Tumor, Somatic 24 GPC3
4 Wilms Tumor 24 WT1

Anatomical Context for Wilms Tumor Susceptibility-5

MalaCards organs/tissues related to Wilms Tumor Susceptibility-5:

39
Kidney, Lung, Liver, Testes, Lymph Node

Publications for Wilms Tumor Susceptibility-5

Variations for Wilms Tumor Susceptibility-5

UniProtKB/Swiss-Prot genetic disease variations for Wilms Tumor Susceptibility-5:

71
id Symbol AA change Variation ID SNP ID
1 POU6F2 p.Gln192His VAR_022419
2 WT1 p.Pro181Ser VAR_007739 rs2234584
3 WT1 p.Ser223Asn VAR_007740
4 WT1 p.Gly253Ala VAR_007741
5 WT1 p.Arg366Cys VAR_007745
6 WT1 p.Arg366His VAR_007746
7 WT1 p.His373Gln VAR_007747
8 WT1 p.Arg394Trp VAR_007750
9 WT1 p.Cys355Gly VAR_043799
10 WT1 p.Arg394Leu VAR_043807

ClinVar genetic disease variations for Wilms Tumor Susceptibility-5:

6 (show all 16)
id Gene Variation Type Significance SNP ID Assembly Location
1 POU6F2 NM_007252.3(POU6F2): c.573G> T (p.Gln191His) single nucleotide variant risk factor rs121918261 GRCh37 Chromosome 7, 39379302: 39379302
2 POU6F2 POU6F2, C-G, EXON 1C, 5-PRIME UTR single nucleotide variant Pathogenic
3 WT1 NM_001198551.1(WT1): c.443delG (p.Gly148Valfs) deletion Pathogenic rs587776574 GRCh38 Chromosome 11, 32399967: 32399967
4 WT1 NM_001198551.1(WT1): c.242_258del17 (p.Asn81Ilefs) deletion Pathogenic rs587776573 GRCh38 Chromosome 11, 32417633: 32417649
5 WT1 NM_024426.4(WT1): c.1384C> T (p.Arg462Trp) single nucleotide variant Pathogenic rs121907900 GRCh37 Chromosome 11, 32413566: 32413566
6 WT1 NM_024426.4(WT1): c.1372C> T (p.Arg458Ter) single nucleotide variant Pathogenic rs121907909 GRCh37 Chromosome 11, 32413578: 32413578
7 WT1 NM_024426.4(WT1): c.1288C> T (p.Arg430Ter) single nucleotide variant Pathogenic rs121907906 GRCh37 Chromosome 11, 32414263: 32414263
8 WT1 NM_024426.4(WT1): c.531C> A (p.Tyr177Ter) single nucleotide variant Pathogenic rs121907911 GRCh37 Chromosome 11, 32456361: 32456361
9 BRCA2 NM_000059.3(BRCA2): c.658_659delGT (p.Val220Ilefs) deletion Pathogenic rs80359604 GRCh37 Chromosome 13, 32903606: 32903607
10 BRCA2 NM_000059.3(BRCA2): c.5645C> G (p.Ser1882Ter) single nucleotide variant Pathogenic rs80358785 GRCh37 Chromosome 13, 32914137: 32914137
11 GPC3 NM_004484.3(GPC3): c.361C> T (p.His121Tyr) single nucleotide variant Pathogenic rs122453119 GRCh37 Chromosome X, 132888180: 132888180
12 GPC3 NM_004484.3(GPC3): c.1705G> A (p.Ala569Thr) single nucleotide variant Pathogenic rs122453120 GRCh37 Chromosome X, 132670190: 132670190
13 GPC3 NM_004484.3(GPC3): c.1574-?_*379+?del deletion Pathogenic
14 WT1 NM_001198551.1(WT1): c.161delC (p.Pro54Argfs) deletion Pathogenic rs1060501253 GRCh38 Chromosome 11, 32428031: 32428031
15 GPC3 NC_000023.10: g.(?_132795758)_(132888203_?)del deletion Pathogenic GRCh37 Chromosome X, 132795758: 132888203
16 WT1 NM_024426.4(WT1): c.576delG (p.Ala193Profs) deletion Pathogenic rs1131690795 GRCh38 Chromosome 11, 32434770: 32434770

Cosmic variations for Wilms Tumor Susceptibility-5:

9 (show all 21)
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA Conf
1 COSM21397 WT1 kidney,NS,Wilms tumour,unilateral c.1168C>T p.R390* 23
2 COSM21398 WT1 kidney,NS,Wilms tumour,unilateral c.461T>C p.F154S 23
3 COSM21408 WT1 kidney,NS,Wilms tumour,unilateral c.1096C>T p.R366C 23
4 COSM21439 WT1 kidney,NS,Wilms tumour,unilateral c.797A>G p.N266S 23
5 COSM21403 WT1 kidney,NS,Wilms tumour,unilateral c.1013C>A p.S338Y 23
6 COSM21971 WT1 kidney,NS,Wilms tumour,unilateral c.1112A>G p.K371R 23
7 COSM21967 WT1 kidney,NS,Wilms tumour,unilateral c.1180C>G p.R394G 23
8 COSM21401 WT1 kidney,NS,Wilms tumour,unilateral c.1084C>T p.R362* 23
9 COSM21445 WT1 kidney,NS,Wilms tumour,unilateral c.602G>A p.G201D 23
10 COSM21417 WT1 kidney,NS,Wilms tumour,unilateral c.1180C>T p.R394W 23
11 COSM21441 WT1 kidney,NS,Wilms tumour,unilateral c.901C>T p.R301* 23
12 COSM44510 TP53 kidney,NS,Wilms tumour,unilateral c.717C>G p.N239K 23
13 COSM13168 CTNNB1 kidney,NS,Wilms tumour,unilateral c.104T>C p.I35T 23
14 COSM5667 CTNNB1 kidney,NS,Wilms tumour,unilateral c.134C>T p.S45F 23
15 COSM5678 CTNNB1 kidney,NS,Wilms tumour,unilateral c.107A>C p.H36P 23
16 COSM5689 CTNNB1 kidney,NS,Wilms tumour,unilateral c.134C>G p.S45C 23
17 COSM5664 CTNNB1 kidney,NS,Wilms tumour,unilateral c.121A>G p.T41A 23
18 COSM5663 CTNNB1 kidney,NS,Wilms tumour,unilateral c.133T>C p.S45P 23
19 COSM5692 CTNNB1 kidney,NS,Wilms tumour,unilateral c.134C>A p.S45Y 23
20 COSM250063 AMER1 kidney,NS,Wilms tumour,unilateral c.565C>T p.Q189* 23
21 COSM28715 AMER1 kidney,NS,Wilms tumour,unilateral c.85G>A p.A29T 23

Copy number variations for Wilms Tumor Susceptibility-5 from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 24429 1 180300000 185800000 Microamplification CACNA1E Nephroblastoma

Expression for Wilms Tumor Susceptibility-5

Search GEO for disease gene expression data for Wilms Tumor Susceptibility-5.

Pathways for Wilms Tumor Susceptibility-5

Pathways related to Wilms Tumor Susceptibility-5 according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 10.97 CDKN1C CTNNB1 NPHS1 PAX2 SYNPO WT1
2 10.16 PAX2 PAX8

GO Terms for Wilms Tumor Susceptibility-5

Cellular components related to Wilms Tumor Susceptibility-5 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.47 BRCA2 CDKN1C CTNNB1 EGR1 EWSR1 NR5A1

Biological processes related to Wilms Tumor Susceptibility-5 according to GeneCards Suite gene sharing:

(show all 47)
id Name GO ID Score Top Affiliating Genes
1 negative regulation of cell proliferation GO:0008285 9.99 CTNNB1 DIS3L2 GPC3 PAX6 REST WT1
2 negative regulation of transcription from RNA polymerase II promoter GO:0000122 9.97 CDKN1C CTNNB1 EGR1 REST WT1
3 negative regulation of epithelial cell proliferation GO:0050680 9.83 CDKN1C GPC3 PAX6
4 transcription from RNA polymerase II promoter GO:0006366 9.81 EGR1 NR5A1 PAX2 PAX6 PAX8 POU6F2
5 camera-type eye development GO:0043010 9.73 CDKN1C PAX2 PAX6 WT1
6 kidney development GO:0001822 9.72 CDKN1C CTNNB1 GPC3 PAX8 WT1
7 negative regulation of neurogenesis GO:0050768 9.7 PAX6 REST
8 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.7 PAX2 PAX8
9 male genitalia development GO:0030539 9.7 CTNNB1 WT1
10 tissue development GO:0009888 9.69 NR5A1 WT1
11 anterior/posterior axis specification GO:0009948 9.69 CTNNB1 GPC3
12 urogenital system development GO:0001655 9.68 PAX2 PAX8
13 animal organ development GO:0048513 9.68 CTNNB1 PAX2
14 mesonephros development GO:0001823 9.68 PAX2 PAX8
15 glomerular basement membrane development GO:0032836 9.67 NPHS1 WT1
16 mesenchymal to epithelial transition GO:0060231 9.67 PAX2 WT1
17 sex determination GO:0007530 9.67 NR5A1 WT1
18 positive regulation of male gonad development GO:2000020 9.66 NR5A1 WT1
19 metanephric mesenchyme development GO:0072075 9.66 PAX2 WT1
20 cellular response to gonadotropin stimulus GO:0071371 9.65 PAX8 WT1
21 mesenchymal to epithelial transition involved in metanephros morphogenesis GO:0003337 9.65 PAX2 PAX8
22 adrenal gland development GO:0030325 9.65 CDKN1C NR5A1 WT1
23 dorsal/ventral axis specification GO:0009950 9.64 CTNNB1 PAX6
24 pronephros development GO:0048793 9.64 PAX2 PAX8
25 positive regulation of epithelial cell differentiation GO:0030858 9.63 CTNNB1 PAX6
26 cell fate determination GO:0001709 9.63 CTNNB1 PAX2 PAX6
27 metanephric S-shaped body morphogenesis GO:0072284 9.62 PAX8 WT1
28 regulation of metanephric nephron tubule epithelial cell differentiation GO:0072307 9.62 PAX2 PAX8
29 positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis GO:0072108 9.61 PAX2 PAX8
30 metanephric nephron tubule formation GO:0072289 9.61 PAX2 PAX8
31 metanephric distal convoluted tubule development GO:0072221 9.6 PAX2 PAX8
32 negative regulation of mesenchymal cell apoptotic process involved in metanephros development GO:1900212 9.59 PAX2 PAX8
33 negative regulation of female gonad development GO:2000195 9.58 NR5A1 WT1
34 negative regulation of apoptotic process involved in metanephric nephron tubule development GO:1900218 9.57 PAX2 PAX8
35 positive regulation of metanephric DCT cell differentiation GO:2000594 9.56 PAX2 PAX8
36 negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis GO:0072305 9.55 PAX2 PAX8
37 negative regulation of apoptotic process involved in metanephric collecting duct development GO:1900215 9.54 PAX2 PAX8
38 pronephric field specification GO:0039003 9.52 PAX2 PAX8
39 metanephric epithelium development GO:0072207 9.43 PAX2 PAX8 WT1
40 branching involved in ureteric bud morphogenesis GO:0001658 9.35 CTNNB1 GPC3 PAX2 PAX8 WT1
41 embryonic placenta morphogenesis GO:0060669 9.33 CDKN1C
42 positive regulation of transcription, DNA-templated GO:0045893 9.32 BRCA2 CDKN1C CTNNB1 EGR1 NR5A1 PAX2
43 transcription, DNA-templated GO:0006351 10.24 CTNNB1 EGR1 EWSR1 NR5A1 PAX2 PAX6
44 regulation of transcription, DNA-templated GO:0006355 10.18 CTNNB1 EGR1 EWSR1 IGF2 NR5A1 PAX2
45 regulation of transcription from RNA polymerase II promoter GO:0006357 10.09 CTNNB1 NR5A1 PAX6 REST WT1
46 negative regulation of transcription, DNA-templated GO:0045892 10.08 CDKN1C CTNNB1 PAX2 REST WT1
47 positive regulation of transcription from RNA polymerase II promoter GO:0045944 10.02 CTNNB1 EGR1 NR5A1 PAX2 PAX6 PAX8

Molecular functions related to Wilms Tumor Susceptibility-5 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.9 BRCA2 CTNNB1 EGR1 NR5A1 PAX2 PAX6
2 sequence-specific DNA binding GO:0043565 9.85 EGR1 NR5A1 PAX6 PAX8 WT1
3 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding GO:0001077 9.73 EGR1 PAX6 PAX8 WT1
4 transcription factor activity, sequence-specific DNA binding GO:0003700 9.61 CTNNB1 EGR1 NR5A1 PAX6 PAX8 POU6F2
5 RNA polymerase II core promoter sequence-specific DNA binding GO:0000979 9.54 CTNNB1 PAX6 PAX8
6 double-stranded methylated DNA binding GO:0010385 9.32 EGR1 WT1
7 hemi-methylated DNA-binding GO:0044729 9.26 EGR1 WT1
8 transcription regulatory region DNA binding GO:0044212 9.17 CTNNB1 EGR1 PAX2 PAX6 PAX8 REST
9 protein binding GO:0005515 10.33 BRCA2 CDKN1C CTNNB1 DIS3L2 EGR1 EWSR1

Sources for Wilms Tumor Susceptibility-5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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