WT5
MCID: WLM018
MIFTS: 53

Wilms Tumor 5 (WT5)

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

Aliases & Classifications for Wilms Tumor 5

MalaCards integrated aliases for Wilms Tumor 5:

Name: Wilms Tumor 5 57 20 29 6
Wilms Tumor Susceptibility-5 57 29 13
Wt5 57 20 73
Wilms Tumor and Radial Bilateral Aplasia 20 71
Hereditary Susceptibility to Wilms Tumor 5 73
Bilateral Radial Aplasia with Wilms Tumor 20
Wilms Tumor, Susceptibility to 57
Wilms Tumor, Type 5 39
Wilms Tumor ; Wtsl 57
Nephroblastoma 71
Wilm's Tumor 6
Wtsl 57

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
somatic mutation
autosomal dominant

Miscellaneous:
most cases are sporadic
tumor suppressor gene


HPO:

31

Classifications:



External Ids:

OMIM® 57 601583
OMIM Phenotypic Series 57 PS194070
MedGen 41 C1832099
UMLS 71 C0027708 C1832099

Summaries for Wilms Tumor 5

UniProtKB/Swiss-Prot : 73 Hereditary susceptibility to Wilms tumor 5: Pediatric malignancy of kidney and one of the most common solid cancers in childhood.

MalaCards based summary : Wilms Tumor 5, also known as wilms tumor susceptibility-5, is related to wilms tumor 1 and wilms tumor 6, and has symptoms including abdominal pain An important gene associated with Wilms Tumor 5 is POU6F2 (POU Class 6 Homeobox 2), and among its related pathways/superpathways are Integrated Breast Cancer Pathway and Corticotropin-releasing hormone signaling pathway. The drugs Cyclophosphamide and Vincristine have been mentioned in the context of this disorder. Affiliated tissues include myeloid, bone marrow and bone, and related phenotypes are nephroblastoma and Decreased substrate adherent cell growth

More information from OMIM: 601583 PS194070

Related Diseases for Wilms Tumor 5

Diseases in the Hereditary Wilms' Tumor family:

Wilms Tumor 1 Wilms Tumor 2
Wilms Tumor 3 Wilms Tumor 4
Wilms Tumor 5 Wilms Tumor 6
Familial Wilms Tumor 2

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

(show top 50) (show all 69)
# Related Disease Score Top Affiliating Genes
1 wilms tumor 1 29.1 TRIM28 POU6F2 DIS3L2 CHEK2 BRAF
2 wilms tumor 6 11.3
3 renal wilms' tumor 11.1
4 bohring-opitz syndrome 11.1
5 mosaic variegated aneuploidy syndrome 11.1
6 aniridia 1 10.4
7 neuroblastoma 10.1
8 myeloid leukemia 10.1
9 leukemia, acute myeloid 10.1
10 myelodysplastic syndrome 10.1
11 von willebrand's disease 10.1
12 teratoma 10.1
13 embryoma 10.1
14 pulmonary embolism 10.1
15 sacrococcygeal teratoma 10.1
16 colorectal cancer 9.9
17 diaphragmatic hernia, congenital 9.9
18 thyroid cancer, nonmedullary, 1 9.9
19 renal hypodysplasia/aplasia 1 9.9
20 type 1 diabetes mellitus 9.9
21 budd-chiari syndrome 9.9
22 lymphangioleiomyomatosis 9.9
23 leukemia, chronic myeloid 9.9
24 microvascular complications of diabetes 3 9.9
25 microvascular complications of diabetes 4 9.9
26 microvascular complications of diabetes 6 9.9
27 microvascular complications of diabetes 7 9.9
28 neuroblastoma 6 9.9
29 gastric cancer 9.9
30 cholangiocarcinoma 9.9
31 proteinuria, chronic benign 9.9
32 hepatic veno-occlusive disease 9.9
33 adenoid cystic carcinoma 9.9
34 nephroma 9.9
35 acquired von willebrand syndrome 9.9
36 pulmonary edema 9.9
37 hemopericardium 9.9
38 pericardial effusion 9.9
39 femoral vein thrombophlebitis 9.9
40 varicocele 9.9
41 leukemia 9.9
42 capillary leak syndrome 9.9
43 pneumothorax 9.9
44 hepatitis c 9.9
45 fallopian tube carcinoma 9.9
46 post-traumatic stress disorder 9.9
47 hematologic cancer 9.9
48 testicular cancer 9.9
49 papillary carcinoma 9.9
50 rhabdomyosarcoma 9.9

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



Diseases related to Wilms Tumor 5

Symptoms & Phenotypes for Wilms Tumor 5

Human phenotypes related to Wilms Tumor 5:

31
# Description HPO Frequency HPO Source Accession
1 nephroblastoma 31 HP:0002667

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Genitourinary Kidneys:
nephroblastoma (wilms tumor)

Neoplasia:
nephroblastoma (wilms tumor)

Clinical features from OMIM®:

601583 (Updated 05-Mar-2021)

UMLS symptoms related to Wilms Tumor 5:


abdominal pain

GenomeRNAi Phenotypes related to Wilms Tumor 5 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased substrate adherent cell growth GR00193-A-3 9.56 BRAF CHEK2
2 Decreased substrate adherent cell growth GR00193-A-4 9.56 BRAF CHEK2
3 Decreased human cytomegalovirus (HCMV) strain AD169 replication GR00248-A 9.33 BRAF CHEK2 TRIM28
4 Decreased viability GR00055-A-1 9.23 BRAF TRIM28
5 Decreased viability GR00055-A-2 9.23 BRAF TRIM28
6 Decreased viability GR00221-A-4 9.23 BRAF
7 Decreased viability GR00249-S 9.23 BRAF
8 Decreased viability GR00301-A 9.23 BRAF
9 Decreased viability GR00381-A-1 9.23 BRAF

Drugs & Therapeutics for Wilms Tumor 5

Drugs for Wilms Tumor 5 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 69)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cyclophosphamide Approved, Investigational Phase 4 50-18-0, 6055-19-2 2907
2
Vincristine Approved, Investigational Phase 4 2068-78-2, 57-22-7 5978
3
Doxorubicin Approved, Investigational Phase 4 23214-92-8 31703
4
Dactinomycin Approved, Investigational Phase 4 50-76-0 2019 457193
5
Epirubicin Approved Phase 4 56420-45-2 41867
6
Oxytetracycline Approved, Investigational, Vet_approved Phase 4 79-57-2 5280972 54715139
7
Pirarubicin Investigational Phase 4 72496-41-4
8 Immunosuppressive Agents Phase 4
9 Immunologic Factors Phase 4
10 Antirheumatic Agents Phase 4
11 Alkylating Agents Phase 4
12 Antibiotics, Antitubercular Phase 4
13 Antimitotic Agents Phase 4
14 Anti-Infective Agents Phase 4
15 Anti-Bacterial Agents Phase 4
16 Tubulin Modulators Phase 4
17
Liposomal doxorubicin Phase 4 31703
18
Etoposide Approved Phase 3 33419-42-0 36462
19
Carboplatin Approved Phase 3 41575-94-4 10339178 498142 38904
20
Sargramostim Approved, Investigational Phase 3 123774-72-1, 83869-56-1
21
Sulfamethoxazole Approved Phase 3 723-46-6 5329
22
Lenograstim Approved, Investigational Phase 3 135968-09-1
23
Trimethoprim Approved, Vet_approved Phase 3 738-70-5 5578
24 Molgramostim Investigational Phase 3 99283-10-0
25 Etoposide phosphate Phase 3
26 Adjuvants, Immunologic Phase 3
27 Liver Extracts Phase 3
28 Cactinomycin Phase 3
29
Mesna Approved, Investigational Phase 1, Phase 2 3375-50-6 598
30
Melphalan Approved Phase 1, Phase 2 148-82-3 4053 460612
31
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
32
Sorafenib Approved, Investigational Phase 2 284461-73-0 216239 406563
33
Daunorubicin Approved Phase 2 20830-81-3 30323
34
Topotecan Approved, Investigational Phase 2 119413-54-6, 123948-87-8 60700
35
Ifosfamide Approved Phase 2 3778-73-2 3690
36
Irinotecan Approved, Investigational Phase 2 97682-44-5, 100286-90-6 60838
37
Mechlorethamine Approved, Investigational Phase 2 51-75-2 4033
38
Pemetrexed Approved, Investigational Phase 1, Phase 2 150399-23-8, 137281-23-3 446556 60843
39
Atezolizumab Approved, Investigational Phase 1, Phase 2 1380723-44-3
40
Cemiplimab Approved, Investigational Phase 1, Phase 2 1801342-60-8
41
Temozolomide Approved, Investigational Phase 1, Phase 2 85622-93-1 5394
42
Adenosine Approved, Investigational Phase 2 58-61-7 60961
43
Trastuzumab Approved, Investigational Phase 2 180288-69-1 9903
44
Cisplatin Approved Phase 2 15663-27-1 84093 441203 2767
45
Lomustine Approved, Investigational Phase 2 13010-47-4 3950
46
Tretinoin Approved, Investigational, Nutraceutical Phase 2 302-79-4 5538 444795
47
Tyrosine Approved, Investigational, Nutraceutical Phase 2 60-18-4 6057
48 Lorvotuzumab mertansine Investigational Phase 2 1008106-64-6
49 interferons Phase 2
50 Interferon-alpha Phase 2

Interventional clinical trials:

(show all 46)
# Name Status NCT ID Phase Drugs
1 A Multicenter, Randomized, Double-blind, Prospective Study to Evaluate the Efficacy and Safety of Vincristine, Dactinomycin/Cyclophosphamide Combination Therapy Combined With Liposomal Doxorubicin/Doxorubicin/Pharmorubicin/Pirarubicin in 0.5-14 Year Old Children With Nephroblastoma. Not yet recruiting NCT03892330 Phase 4 Vincristine;Oxytetracycline/ Cyclophosphamide;Liposomal doxorubicin;Doxorubicin;Pharmorubicin;Pirarubicin
2 Treatment of Newly Diagnosed Higher Risk Favorable Histology Wilms Tumors Unknown status NCT00379340 Phase 3 doxorubicin hydrochloride;liposomal vincristine sulfate;cyclophosphamide;etoposide
3 Treatment for Very Low and Standard Risk Favorable Histology Wilms Tumor Unknown status NCT00352534 Phase 3 vincristine sulfate;doxorubicin hydrochloride
4 Nephroblastoma Clinical Trial and Study Unknown status NCT00003804 Phase 3 vincristine sulfate
5 Nephroblastoma (Wilms Tumour) Clinical Trial And Study Unknown status NCT00047138 Phase 3 carboplatin;cyclophosphamide;doxorubicin hydrochloride;etoposide;vincristine sulfate
6 National Wilms Tumor Study-5 -- Treatment of Relapsed Patients, A National Wilms Tumor Study Group Phase III Study Completed NCT00002610 Phase 3 carboplatin;cyclophosphamide;doxorubicin hydrochloride;etoposide;vincristine sulfate
7 Detection of Minimal Residual Disease in Newly Diagnosed Patients With Leukemia and Those Who Undergo a Bone Marrow Transplant Using the Wilms Tumor Suppressor Gene (WT1) as a Marker By RT-PCR Completed NCT00179829 Phase 2, Phase 3
8 NATIONAL WILMS TUMOR STUDY-5 -- THERAPEUTIC TRIAL AND BIOLOGY STUDY Completed NCT00002611 Phase 3 cyclophosphamide;doxorubicin hydrochloride;etoposide;vincristine sulfate
9 Treatment for Patients With Bilateral, Multicentric, or Bilaterally-Predisposed Unilateral Wilms Tumor Active, not recruiting NCT00945009 Phase 3 Doxorubicin Hydrochloride;Vincristine Sulfate
10 High-Dose Chemotherapy With Tandem Peripheral Blood Stem Cell (PBSC) Rescue for the Treatment of High-Risk Pediatric Solid Tumors. Unknown status NCT00179816 Phase 1, Phase 2 High-Dose Chemotherapy with Tandem PBSC Rescue.
11 Therapeutic Efficacy of Wilms' Tumor Gene (WT1) mRNA-electroporated Autologous Dendritic Cell Vaccination in Patients With Solid Tumors: a Phase I/Feasibility Study Unknown status NCT01291420 Phase 1, Phase 2
12 Therapeutic Efficacy of Wilms Tumor Gene (WT1) mRNA-electroporated Autologous Dendritic Cell Vaccination in Patients With Myeloid Malignancies and Multiple Myeloma: A Phase II Trial Unknown status NCT00965224 Phase 2
13 A Phase II Trial of All-Trans-Retinoic Acid in Combination With Interferon-Alpha 2a in Children With Recurrent Neuroblastoma or Wilms' Tumor Completed NCT00001509 Phase 2 IFN-alpha with retinoic acid
14 Wilm's Tumor 1 (WT1) Peptide Vaccination for Patients With High Risk Hematological Malignancies Completed NCT00433745 Phase 2 WT1 Peptide Vaccine
15 Phase II Pharmacokinetic Study to Assess the Age-dependency in the Clearance of Doxorubicin in Paediatric Patients With Solid Tumours and Leukaemia Completed NCT01095926 Phase 2 doxorubicin
16 A Phase II Study of Topotecan in Children With Recurrent Wilms Tumor Completed NCT00187031 Phase 2 Topotecan, Filgrastim (G-CSF), Pegfilgrastim
17 Myeloablative Chemotherapy With Stem Cell Rescue for Rare Poor-Prognosis Cancers Completed NCT00141765 Phase 2
18 A Phase II Study of the Raf Kinase and Receptor Tyrosine Kinase Inhibitor Sorafenib in Children and Young Adults With Relapsed/Refractory Rhabdomyosarcoma, Wilms Tumor, Hepatocellular Carcinoma, and Papillary Thyroid Carcinoma Completed NCT01502410 Phase 2 sorafenib tosylate
19 Treatment of Newly Diagnosed Diffuse Anaplastic Wilms Tumors (DAWT) and Relapsed Favorable Histology Wilms Tumors (FHWT) Recruiting NCT04322318 Phase 2 Carboplatin;Cyclophosphamide;Doxorubicin;Etoposide;Ifosfamide;Irinotecan;Topotecan;Vincristine
20 First-line Immunotherapy Using Wilms' Tumor Protein 1 (WT1)-Targeted Dendritic Cell Vaccinations for Malignant Pleural Mesothelioma Recruiting NCT02649829 Phase 1, Phase 2
21 Wilms' Tumor (WT1) Antigen-targeted Dendritic Cell Vaccination to Prevent Relapse in Adult Patients With Acute Myeloid Leukemia: a Multicenter Randomized Phase II Trial Recruiting NCT01686334 Phase 2
22 An Open-Label, Multi-Center Trial of INO-5401 + INO-9012 in Combination With Atezolizumab in Subjects With Locally Advanced Unresectable or Metastatic/Recurrent Urothelial Carcinoma Active, not recruiting NCT03502785 Phase 1, Phase 2 Atezolizumab
23 An Open-Label, Multi-Center Trial of INO-5401 and INO-9012 Delivered by Electroporation (EP) in Combination With REGN2810 in Subjects With Newly-Diagnosed Glioblastoma (GBM) Active, not recruiting NCT03491683 Phase 1, Phase 2 Temozolomide
24 Stereotactic Body Radiotherapy (SBRT) for Pulmonary Metastases in Ewing Sarcoma, Rhabdomyosarcoma, and Wilms Tumors Active, not recruiting NCT02581384 Phase 1, Phase 2
25 Phase 2 Trial of XL184 (Cabozantinib) an Oral Small-Molecule Inhibitor of Multiple Kinases, in Children and Young Adults With Refractory Sarcomas, Wilms Tumor, and Other Rare Tumors Active, not recruiting NCT02867592 Phase 2 Cabozantinib;Cabozantinib S-malate
26 A Phase 2 Study of IMGN901 (Lorvotuzumab Mertansine; NSC#: 783609) in Children With Relapsed or Refractory Wilms Tumor, Rhabdomyosarcoma, Neuroblastoma, Pleuropulmonary Blastoma, Malignant Peripheral Nerve Sheath Tumor (MPNST) and Synovial Sarcoma Active, not recruiting NCT02452554 Phase 2
27 Personalized Risk-Adapted Therapy in Post-Pubertal Patients With Newly-Diagnosed Medulloblastoma (PersoMed-I) Not yet recruiting NCT04402073 Phase 2 Sonidegib;Cisplatin;Lomustine;Vincristine
28 Phase I Trial and Pharmacokinetic Study of Tariquidar (XR9576), a P-Glycoprotein Inhibitor, in Combination With Doxorubicin, Vinorelbine or Docetaxel in Pediatric Patients With Refractory Solid Tumors Including Brain Tumors Completed NCT00011414 Phase 1 Tariquidar
29 Wilms Tumor Gene (WT1) mRNA-transfected Autologous Dendritic Cell Vaccination for Patients With Acute Myeloid Leukemia (AML): a Phase I Trial Completed NCT00834002 Phase 1
30 Ph 1 Study of Escalating Single & Multiple Doses of Mana 312 (Multi Tumor-Associated Antigen T Cells) Administered to Adult Subjects With Acute Myeloid Leukemia or Myelodysplastic Syndrome After Allogeneic Hematopoietic Stem Cell Transplant Recruiting NCT04679194 Phase 1
31 Observational - Relationships Between Tumor-Associated Macrophages and Clinicopathological Factors in Wilms Tumor Completed NCT01493817
32 Observational - Characterization of Urinary Metabolite Profiles in Wilms Tumor Completed NCT01614808
33 Categorization of Wilms Tumors by Genetic Expression Completed NCT00897637
34 The Incidence, Inheritance, and Prognostic Significance of Polymorphisms in the RASSF1A Gene in Children With Wilms Tumors Completed NCT00088803
35 Therapeutically Applicable Research to Generate Effective Treatments (TARGET) Initiative High-Risk Renal Tumor Project: Application of Array-Based Methods and Next Generation Sequencing to Identify Candidate Molecular Targets for High-Risk Wilms Tumors Completed NCT01118078
36 Pilot Case-Control Study of WT1 Mutations in Wilms Tumor Patients Who Develop ESRD Completed NCT01314391
37 A Genome-Wide Association Study in Wilms Tumor Completed NCT01808079
38 Discovery and Validation of Wilms Tumor Markers Using Urine Proteomics Completed NCT01550393
39 Biological Analysis of Ethnic Variations in Wilms Tumor Completed NCT01542333
40 Validation of Prognostic Markers for Very Low Risk Wilms Tumors Completed NCT01004783
41 Validation of Copy Number Changes by MLPA as Predictors of Relapse in Wilms Tumor Completed NCT01576198
42 Investigation of DICER1 in Cystic Nephroma and Cystic Partially Differentiated Nephroblastoma Completed NCT01353300
43 Therapeutic Recommendations for the Treatment of Children With Nephroblastoma in Africa. Recruiting NCT04423484
44 Genetics of Wilms' Tumor and/or the Associated Conditions of Aniridia, Hemihypertrophy, and Genitourinary Anomalies Active, not recruiting NCT00503893
45 Pharmacogenetic Study of Antimitotic Therapies Involved in Hepatic Veno-occlusive Disease in Children With Nephroblastoma or Acute Lymphoblastic Leukemia Not yet recruiting NCT04168788
46 National Wilm's Tumor Study Late Effects Withdrawn NCT00228696

Search NIH Clinical Center for Wilms Tumor 5

Genetic Tests for Wilms Tumor 5

Genetic tests related to Wilms Tumor 5:

# Genetic test Affiliating Genes
1 Wilms Tumor 5 29 POU6F2
2 Wilms Tumor Susceptibility-5 29

Anatomical Context for Wilms Tumor 5

MalaCards organs/tissues related to Wilms Tumor 5:

40
Myeloid, Bone Marrow, Bone, Cortex, Liver, Thyroid, Testis

Publications for Wilms Tumor 5

Articles related to Wilms Tumor 5:

(show all 13)
# Title Authors PMID Year
1
Germline mutations of the POU6F2 gene in Wilms tumors with loss of heterozygosity on chromosome 7p14. 6 57
15459955 2004
2
Refinement within single yeast artificial chromosome clones of a minimal region commonly deleted on the short arm of chromosome 7 in Wilms tumours. 57 6
11284034 2001
3
The parathyroid hormone-responsive B1 gene is interrupted by a t(1;7)(q42;p15) breakpoint associated with Wilms' tumour. 57
12618763 2003
4
Loss of heterozygosity for the short arm of chromosome 7 in sporadic Wilms tumour. 57
9690521 1998
5
Localization of a novel t(1;7) translocation associated with Wilms' tumor predisposition and skeletal abnormalities. 57
8946193 1996
6
Mapping of a putative tumor suppressor locus to proximal 7p in Wilms tumors. 57
8938443 1996
7
Germline and somatic abnormalities of chromosome 7 in Wilms' tumor. 57
7954327 1994
8
Primary hepatic metastases in nephroblastoma--a report of the SIOP/GPOH Study. 61
16410128 2006
9
[Metachronous bilateral Wilms' tumor]. 61
11864523 2002
10
Wilms tumor and multicystic dysplastic kidney disease. 61
9366370 1997
11
[Diagnostic and therapeutic problems posed by malignant non Hodgkin lymphoma of renal origin in children. Apropos of 7 cases]. 61
1337694 1992
12
Birth defects in three common pediatric malignancies; Wilms' tumor, neuroblastoma and Ewing's sarcoma. 61
2999670 1985
13
The treatment of Wilms' tumor: Results of the national Wilms' tumor study. 61
184912 1976

Variations for Wilms Tumor 5

ClinVar genetic disease variations for Wilms Tumor 5:

6 (show all 44)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TET2-AS1 NM_001127208.2(TET2):c.4456T>C (p.Ser1486Pro) SNV other 438791 rs1553918194 4:106193994-106193994 4:105272837-105272837
2 MED12 NM_005120.3(MED12):c.131G>A (p.Gly44Asp) SNV other 92220 rs199469672 X:70339254-70339254 X:71119404-71119404
3 FZD6 NM_003506.4(FZD6):c.346C>T (p.Arg116Ter) SNV other 438765 rs769116796 8:104330986-104330986 8:103318758-103318758
4 CTNNB1 NM_001904.4(CTNNB1):c.770C>T (p.Thr257Ile) SNV other 438758 rs1553630452 3:41267186-41267186 3:41225695-41225695
5 CTNNB1 NM_001904.4(CTNNB1):c.133_135del (p.Ser45del) Deletion other 17576 rs587776850 3:41266136-41266138 3:41224643-41224645
6 CTNNB1 NM_001904.4(CTNNB1):c.134C>T (p.Ser45Phe) SNV other 17588 rs121913409 3:41266137-41266137 3:41224646-41224646
7 BRAF NM_001374258.1(BRAF):c.1919T>A (p.Val640Glu) SNV Pathogenic 13961 rs113488022 7:140453136-140453136 7:140753336-140753336
8 CHEK2 NM_007194.4(CHEK2):c.1100_1101del (p.Thr367fs) Deletion Pathogenic 438773 rs1555913934 22:29091856-29091857 22:28695868-28695869
9 TRIM28 NM_005762.3(TRIM28):c.2101C>T (p.Gln701Ter) SNV Pathogenic 973190 19:59061222-59061222 19:58549855-58549855
10 POU6F2 NM_007252.4(POU6F2):c.573G>T (p.Gln191His) SNV Pathogenic 1871 rs121918261 7:39379302-39379302 7:39339703-39339703
11 POU6F2 POU6F2, C-G, EXON 1C, 5-PRIME UTR SNV Pathogenic 1872
12 DIS3L2 NM_152383.5(DIS3L2):c.2379_2380GC[1] (p.Arg794fs) Microsatellite Likely pathogenic 438774 rs1553551874 2:233199430-233199431 2:232334720-232334721
13 VHL NM_000551.4(VHL):c.241C>T (p.Pro81Ser) SNV Uncertain significance 2233 rs104893829 3:10183772-10183772 3:10142088-10142088
14 WT1 NM_024426.6(WT1):c.*269G>T SNV Uncertain significance 304409 rs886048225 11:32410335-32410335 11:32388789-32388789
15 WT1 NM_024426.6(WT1):c.*1021_*1022GT[15] Microsatellite Uncertain significance 304379 rs58549495 11:32409550-32409553 11:32388004-32388007
16 WT1 NM_024426.6(WT1):c.*707C>A SNV Uncertain significance 304394 rs886048217 11:32409897-32409897 11:32388351-32388351
17 WT1 NM_024426.6(WT1):c.-90T>C SNV Uncertain significance 304435 rs886048238 11:32456996-32456996 11:32435450-32435450
18 WT1 NM_024426.6(WT1):c.*841C>A SNV Uncertain significance 304388 rs886048213 11:32409763-32409763 11:32388217-32388217
19 WT1 NM_024426.6(WT1):c.*1021_*1022GT[19] Microsatellite Uncertain significance 304377 rs58549495 11:32409549-32409550 11:32388003-32388004
20 WT1 NM_024426.6(WT1):c.285C>T (p.Gly95=) SNV Uncertain significance 304426 rs886048230 11:32456622-32456622 11:32435076-32435076
21 WT1 NM_024426.6(WT1):c.*1021_*1022GT[14] Microsatellite Uncertain significance 304381 rs58549495 11:32409550-32409555 11:32388004-32388009
22 WT1 NM_024426.6(WT1):c.*1058G>T SNV Uncertain significance 304376 rs886048211 11:32409546-32409546 11:32388000-32388000
23 WT1 NM_024426.6(WT1):c.*685G>T SNV Uncertain significance 304395 rs886048218 11:32409919-32409919 11:32388373-32388373
24 WT1 NM_024426.6(WT1):c.136G>T (p.Ala46Ser) SNV Uncertain significance 304430 rs886048233 11:32456771-32456771 11:32435225-32435225
25 WT1 NM_024426.6(WT1):c.-86T>C SNV Uncertain significance 304434 rs886048237 11:32456992-32456992 11:32435446-32435446
26 WT1 NM_024426.6(WT1):c.*741G>T SNV Uncertain significance 304393 rs886048216 11:32409863-32409863 11:32388317-32388317
27 WT1 NM_024426.6(WT1):c.*1021_*1022GT[20] Microsatellite Uncertain significance 304378 rs58549495 11:32409549-32409550 11:32388003-32388004
28 WT1 NM_024426.6(WT1):c.-31G>T SNV Uncertain significance 304431 rs886048234 11:32456937-32456937 11:32435391-32435391
29 WT1 NM_024426.6(WT1):c.-94G>C SNV Uncertain significance 304436 rs886048239 11:32457000-32457000 11:32435454-32435454
30 SMAD4 NM_005359.6(SMAD4):c.875C>T (p.Pro292Leu) SNV Uncertain significance 184326 rs786201404 18:48584797-48584797 18:51058427-51058427
31 WT1 NM_024426.6(WT1):c.411_413GCC[5] (p.Pro141dup) Microsatellite Uncertain significance 406690 rs760304811 11:32456484-32456485 11:32434938-32434939
32 WT1 NM_024426.6(WT1):c.-82A>C SNV Uncertain significance 304433 rs886048236 11:32456988-32456988 11:32435442-32435442
33 WT1 NM_024426.6(WT1):c.*1021_*1022GT[18] Microsatellite Uncertain significance 304380 rs58549495 11:32409549-32409550 11:32388003-32388004
34 WT1 NM_024426.6(WT1):c.*574del Deletion Uncertain significance 304400 rs5030319 11:32410030-32410030 11:32388484-32388484
35 WT1 NM_024426.6(WT1):c.*393G>T SNV Uncertain significance 304405 rs886048222 11:32410211-32410211 11:32388665-32388665
36 WT1 NM_024426.6(WT1):c.247G>T (p.Ala83Ser) SNV Uncertain significance 304427 rs886048231 11:32456660-32456660 11:32435114-32435114
37 WT1 NM_024426.6(WT1):c.*768A>C SNV Uncertain significance 304392 rs886048215 11:32409836-32409836 11:32388290-32388290
38 WT1 NM_024426.6(WT1):c.*354G>T SNV Uncertain significance 304407 rs886048224 11:32410250-32410250 11:32388704-32388704
39 WT1 NM_024426.6(WT1):c.*366C>A SNV Uncertain significance 304406 rs886048223 11:32410238-32410238 11:32388692-32388692
40 WT1 NM_024426.6(WT1):c.*897G>C SNV Likely benign 304385 rs5030324 11:32409707-32409707 11:32388161-32388161
41 WT1 NM_024426.6(WT1):c.*542G>A SNV Likely benign 304401 rs142726499 11:32410062-32410062 11:32388516-32388516
42 WT1 NM_024426.6(WT1):c.*138G>A SNV Likely benign 304414 rs111351882 11:32410466-32410466 11:32388920-32388920
43 WT1 NM_024426.6(WT1):c.*978dup Duplication Benign 304383 rs5030326 11:32409625-32409626 11:32388079-32388080
44 WT1 NM_024426.6(WT1):c.*1049del Deletion Benign 304382 rs568803808 11:32409555-32409555 11:32388009-32388009

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

73
# Symbol AA change Variation ID SNP ID
1 POU6F2 p.Gln192His VAR_022419

Expression for Wilms Tumor 5

LifeMap Discovery
Genes differentially expressed in tissues of Wilms Tumor 5 patients vs. healthy controls: 35 (show top 50) (show all 333)
# Gene Description Tissue Up/Dn Fold Change (log2) P value
1 CDH16 cadherin 16 Kidney - 11.18 0.000
2 SLC12A1 solute carrier family 12 member 1 Kidney - 10.67 0.000
3 SOX11 SRY-box transcription factor 11 Kidney + 9.64 0.000
4 LYPD1 LY6/PLAUR domain containing 1 Kidney + 9.37 0.000
5 ACSM2A acyl-CoA synthetase medium chain family member 2A Kidney - 9.29 0.009
6 FXYD4 FXYD domain containing ion transport regulator 4 Kidney - 9.21 0.000
7 CALB1 calbindin 1 Kidney - 9.11 0.000
8 TOP2A DNA topoisomerase II alpha Kidney + 9.07 0.000
9 SCNN1A sodium channel epithelial 1 subunit alpha Kidney - 8.78 0.000
10 KCNJ1 potassium inwardly rectifying channel subfamily J member 1 Kidney - 8.78 0.000
11 EYA1 EYA transcriptional coactivator and phosphatase 1 Kidney + 8.66 0.000
12 EGF epidermal growth factor Kidney - 8.65 0.000
13 NAT8 N-acetyltransferase 8 (putative) Kidney - 8.65 0.001
14 COL2A1 collagen type II alpha 1 chain Kidney + 8.57 0.000
15 SMIM24 small integral membrane protein 24 Kidney - 8.35 0.000
16 MIOX myo-inositol oxygenase Kidney - 8.15 0.000
17 TMEM52B transmembrane protein 52B Kidney - 8.08 0.000
18 PDZK1IP1 PDZK1 interacting protein 1 Kidney - 8.07 0.000
19 BBOX1 gamma-butyrobetaine hydroxylase 1 Kidney - 8.04 0.000
20 ALDOB aldolase, fructose-bisphosphate B Kidney - 8.04 0.022
21 MAL mal, T cell differentiation protein Kidney - 7.98 0.000
22 ATP6V0A4 ATPase H+ transporting V0 subunit a4 Kidney - 7.93 0.000
23 KL klotho Kidney - 7.93 0.000
24 GLYAT glycine-N-acyltransferase Kidney - 7.88 0.002
25 CITED1 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 1 Kidney + 7.81 0.000
26 SIX1 SIX homeobox 1 Kidney + 7.76 0.000
27 BHMT betaine--homocysteine S-methyltransferase Kidney - 7.74 0.003
28 NPHS2 NPHS2 stomatin family member, podocin Kidney - 7.68 0.000
29 DEFB1 defensin beta 1 Kidney - 7.64 0.000
30 KLHDC7A kelch domain containing 7A Kidney - 7.60 0.000
31 OGDHL oxoglutarate dehydrogenase L Kidney - 7.52 0.000
32 CLDN8 claudin 8 Kidney - 7.44 0.000
33 CLCNKB chloride voltage-gated channel Kb Kidney - 7.43 0.000
34 HPD 4-hydroxyphenylpyruvate dioxygenase Kidney - 7.39 0.010
35 TACSTD2 tumor associated calcium signal transducer 2 Kidney - 7.38 0.000
36 FXYD2 FXYD domain containing ion transport regulator 2 Kidney - 7.32 0.000
37 TMEM45B transmembrane protein 45B Kidney - 7.31 0.000
38 SCNN1G sodium channel epithelial 1 subunit gamma Kidney - 7.30 0.000
39 MFSD4A major facilitator superfamily domain containing 4A Kidney - 7.27 0.000
40 TMEM213 transmembrane protein 213 Kidney - 7.26 0.000
41 MUC15 mucin 15, cell surface associated Kidney - 7.25 0.000
42 TFAP2B transcription factor AP-2 beta Kidney - 7.24 0.000
43 PDZK1 PDZ domain containing 1 Kidney - 7.20 0.004
44 HMGA2 high mobility group AT-hook 2 Kidney + 7.20 0.000
45 SLC13A1 solute carrier family 13 member 1 Kidney - 7.19 0.000
46 PAH phenylalanine hydroxylase Kidney - 7.16 0.018
47 FGF1 fibroblast growth factor 1 Kidney - 7.16 0.000
48 DNASE1 deoxyribonuclease 1 Kidney - 7.13 0.000
49 SLC13A3 solute carrier family 13 member 3 Kidney - 7.13 0.000
50 G6PC glucose-6-phosphatase catalytic subunit Kidney - 7.10 0.017
Search GEO for disease gene expression data for Wilms Tumor 5.

Pathways for Wilms Tumor 5

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

# Super pathways Score Top Affiliating Genes
1 11.44 CHEK2 BRAF
2 11.12 TRIM28 BRAF
3 10.73 TRIM28 CHEK2
4 10.29 TRIM28 CHEK2

GO Terms for Wilms Tumor 5

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

# Name GO ID Score Top Affiliating Genes
1 protein autophosphorylation GO:0046777 9.16 TRIM28 CHEK2
2 protein phosphorylation GO:0006468 9.13 TRIM28 CHEK2 BRAF
3 cellular response to drug GO:0035690 8.62 CHEK2 BRAF

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

# Name GO ID Score Top Affiliating Genes
1 protein kinase activity GO:0004672 8.8 TRIM28 CHEK2 BRAF

Sources for Wilms Tumor 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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