Stricture or kinking of ureter

Summary

Stricture or kinking of ureter (MONDO:0002674) is a disease with 2 GWAS associations across 9 studies. A subtype of kidney disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• GWAS associations: 2

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	stricture or kinking of ureter
Mondo ID	MONDO:0002674
DOID	DOID:3508
UMLS	C0341728
MedGen	574605
Is cancer (heuristic)	no

Data availability: 2 GWAS associations (9 studies).

Disease family

This is a subtype of kidney disorder. 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 body system or component › urinary system disorder › kidney disorder › stricture or kinking of ureter

Related subtypes (56): renal hypertension, kidney failure, nephritis, impaired renal function disease, nephrocalcinosis, atheroembolism of kidney, renal artery disease, nephrosis, cystic kidney disease, anuria, proteinuria, renal infectious disease, diabetes insipidus, orthostatic proteinuria, kidney hypertrophy, chronic kidney disease, hydronephrosis, renal tubular transport disease, kidney cortex necrosis, kidney papillary necrosis, perinephritis, renal aminoaciduria, autosomal dominant progressive nephropathy with hypertension, nephrolithiasis, X-linked diffuse leiomyomatosis-Alport syndrome, tubulointerstitial nephritis and uveitis syndrome, distal renal tubular acidosis, oligomeganephronia, duplication of urethra, renal tubular dysgenesis, exstrophy-epispadias complex, fetal lower urinary tract obstruction, IgG4-related kidney disease, congenital primary megaureter, renal nutcracker syndrome, renal hypoplasia, renal dysplasia, congenital megacalycosis, glomerular disorder, congenital renal artery stenosis, kidney neoplasm, renal tubule disorder, pyonephrosis, Arnold stickler bourne syndrome, C1q nephropathy, hypertensive nephropathy, atypical Fanconi syndrome-neonatal hyperinsulinism syndrome, idiopathic non-lupus full-house nephropathy, lachiewicz sibley syndrome, crush syndrome, obstructive nephropathy, inherited kidney disorder, acute tubulointerstitial nephritis, kidney cortex disease, non-syndromic supernumerary kidneys, neonatal renal venous thrombosis

Genetics & variants

GWAS landscape

2 GWAS associations across 9 studies. Top hits map to 1 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs543760162	3e-11	Metazoa_SRP - EVA1CP1	C	2.89
rs148143941	9e-08	NMU	?

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90478537	Verma A	2024	3,476	442,539	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90651823	Liu TY	2025	960	202,534	Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.
GCST90436424	Zhou W	2018	913	397,602	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.
GCST90478536	Verma A	2024	753	120,155	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90480382	Verma A	2024	753	120,155	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90044228	Jiang L	2021	621	455,727	A generalized linear mixed model association tool for biobank-scale data.
GCST90080577	Backman JD	2021	597	387,333	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90084563	Backman JD	2021	597	387,333	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90482210	Verma A	2024	415	58,913	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.

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)	0
low_freq (0.01-0.05)	0
rare (<0.01)	1
unknown	1

Functional consequences

Consequence	Count
intron_variant	2

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs543760162	4	9715829	C>T	0	intron_variant	Metazoa_SRP - EVA1CP1	3e-11	Tier 4: intronic/intergenic
rs148143941	4	55603130	T>C		intron_variant	NMU	9e-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: 0.