Malignant urinary system neoplasm

Summary

Malignant urinary system neoplasm (MONDO:0006295) is a cancer (an umbrella term covering 10 Mondo subtypes) with 2 GWAS associations across 7 studies and 4 clinical trials. Top therapeutic interventions include testosterone cypionate and valproic acid. A subtype of cancer — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Classification: Cancer
• Umbrella term: 10 Mondo subtypes
• GWAS associations: 2
• Clinical trials: 4

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	malignant urinary system neoplasm
Mondo ID	MONDO:0006295
EFO	EFO:1000363
DOID	DOID:3996
ICD-10-CM	C64-C68
NCIT	C192668, C9297
SNOMED CT	448233000
UMLS	C1644719
MedGen	738719
Anatomy (UBERON)	UBERON:0001008
Is cancer (heuristic)	yes

Also known as: cancer of renal system · malignant neoplasm of renal system · malignant renal system neoplasm · malignant urinary system neoplasm · malignant urinary tract neoplasm · renal system cancer · urinary system cancer

Data availability: 2 GWAS associations (7 studies).

Disease family

This is a subtype of cancer. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by etiologic mechanism › cancer or benign tumor › neoplastic disease or syndrome › neoplasm › cancer › malignant urinary system neoplasm

Related subtypes (32): respiratory system cancer, immune system cancer, musculoskeletal system cancer, integumentary system cancer, peritoneum cancer, cardiovascular cancer, reproductive system cancer, malignant giant cell tumor, digestive system cancer, lipomatous cancer, thoracic cancer, malignant glomus tumor, malignant mesenchymoma, carcinoma, sarcoma, blastoma, head and neck cancer, malignant mixed neoplasm, nervous system cancer, retroperitoneal cancer, malignant germ cell tumor, malignant mesothelioma, childhood malignant neoplasm, anaplastic cancer, malignant spindle cell neoplasm, high grade malignant neoplasm, malignant endocrine neoplasm, malignant soft tissue neoplasm, secondary malignant neoplasm, refractory malignant neoplasm, malignant adenoma, cancer of unknown primary site

Subtypes (10): malignant prostate phyllodes tumor, urinary bladder cancer, kidney cancer, urethra cancer, multiple endocrine neoplasia type 2B, ureter cancer, pheochromocytoma/paraganglioma syndrome 2, pheochromocytoma/paraganglioma syndrome 5, infiltrating urothelial carcinoma, urothelial carcinoma

Genetics & variants

GWAS landscape

2 GWAS associations across 7 studies. Top hits map to 2 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs145263606	4e-10	SKIC3	?
rs10094872	1e-08	CASC11	?

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90081351	Backman JD	2021	3,617	384,280	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90085337	Backman JD	2021	3,617	384,280	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90651474	Liu TY	2025	2,190	235,128	Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.
GCST90481516	Verma A	2024	862	449,695	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90651274	Liu TY	2025	544	235,128	Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.
GCST90435621	Zhou W	2018	131	404,796	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.
GCST90041859	Jiang L	2021	105	456,243	A generalized linear mixed model association tool for biobank-scale data.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	0
Tier 2: splice/UTR	0
Tier 3: regulatory	0
Tier 4: intronic/intergenic	2

MAF distribution

Bucket	Variants
common (>=0.05)	1
low_freq (0.01-0.05)	0
rare (<0.01)	0
unknown	1

Functional consequences

Consequence	Count
intron_variant	2

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs145263606	5	95531800	A>G		intron_variant	SKIC3	4e-10	Tier 4: intronic/intergenic
rs10094872	8	127707639	A>T	0.05	intron_variant	CASC11	1e-08	Tier 4: intronic/intergenic

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 4.

Phase distribution (across all retrieved trials)

Phase	Trials
PHASE1	3
EARLY_PHASE1	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT04731376	PHASE1	ACTIVE_NOT_RECRUITING	Perioperative Testosterone Replacement Therapy for the Improvement of Post-Operative Outcomes in Patients With Low Testosterone
NCT01552434	PHASE1	TERMINATED	Bevacizumab and Temsirolimus Alone or in Combination With Valproic Acid or Cetuximab in Treating Patients With Advanced or Metastatic Malignancy or Other Benign Disease
NCT03420963	PHASE1	TERMINATED	Donor Natural Killer Cells, Cyclophosphamide, and Etoposide in Treating Children and Young Adults With Relapsed or Refractory Solid Tumors
NCT03473730	EARLY_PHASE1	COMPLETED	Daratumumab in Treating Patients with Muscle Invasive Bladder Cancer or Metastatic Kidney Cancer

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
TESTOSTERONE CYPIONATE	4	1
VALPROIC ACID	4	1