Hyperuricemia - anemia - renal failure: genes and variants
Explore variant evidence for Hyperuricemia - anemia - renal failure across 2 analyzed proteins (UMOD, REN). Linked ClinVar records include 56 pathogenic or likely pathogenic variants, 121 variants of uncertain significance and 33 with conflicting classifications.
Coverage includes proteins already analyzed in CATVariant, not every gene involved in this condition. Database links are associations, not an assessment of clinical gene–disease validity. Computable evidence prioritizes variants for expert review and does not reclassify them. Source labels are pooled across this disease family.
Data updated 2026-10-10. Automated aggregation, not a clinical review date.
Download variant evidence (CSV)
Genes linked to Hyperuricemia - anemia - renal failure
UMOD: Uromodulin
It is secreted by thick-ascending-limb cells into urine, where it contributes to salt handling, urinary defense, and protection against kidney stones. Dominant pathogenic variants cause autosomal dominant tubulointerstitial kidney disease, while common regulatory variants influence kidney-function and hypertension risk.
53 ClinVar pathogenic / likely pathogenic and 108 uncertain variants in UMOD have source records linked to Hyperuricemia - anemia - renal failure. Association strength is not clinical gene validity.
REN: Renin
It initiates the renin-angiotensin cascade by cleaving angiotensinogen, thereby controlling blood pressure, sodium balance, and extracellular fluid volume. Pathogenic variants can cause renal tubular dysgenesis or rare inherited tubulointerstitial kidney disease depending on their effect on renin production.
3 ClinVar pathogenic / likely pathogenic and 46 uncertain variants in REN have source records linked to Hyperuricemia - anemia - renal failure. Association strength is not clinical gene validity.
Where Hyperuricemia - anemia - renal failure variants cluster
- UMOD D10C (positions 172–292): 22 of 53 ClinVar pathogenic / likely pathogenic variants, 2.2× more than its size predicts.
- UMOD EGF-like 2 (positions 65–107): 11 of 53 ClinVar pathogenic / likely pathogenic variants, 3.1× more than its size predicts.
- UMOD EGF-like 4 (positions 292–323): 6 of 53 ClinVar pathogenic / likely pathogenic variants, 2.3× more than its size predicts.
- UMOD EGF-like 3 (positions 108–149): 7 of 53 ClinVar pathogenic / likely pathogenic variants, 2.0× more than its size predicts.
- UMOD EGF-like 1 (positions 28–64): 6 of 53 ClinVar pathogenic / likely pathogenic variants, 2.0× more than its size predicts.
ClinVar pathogenic and likely pathogenic variants linked to Hyperuricemia - anemia - renal failure
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| UMOD C256S | 256 | D10C | Pathogenic / likely pathogenic (★★★★) |
| UMOD R185C | 185 | D10C | Pathogenic / likely pathogenic (★★) |
| UMOD P236T | 236 | D10C | Pathogenic / likely pathogenic (★★) |
| UMOD P236L | 236 | D10C | Pathogenic / likely pathogenic (★★) |
| UMOD C120R | 120 | EGF-like 3 | Pathogenic / likely pathogenic (★★) |
| UMOD C317G | 317 | EGF-like 4 | Pathogenic / likely pathogenic (★★) |
| UMOD C106Y | 106 | EGF-like 2 | Pathogenic / likely pathogenic (★★) |
| UMOD P236R | 236 | D10C | Pathogenic / likely pathogenic (★★) |
| UMOD C317Y | 317 | EGF-like 4 | Pathogenic / likely pathogenic (★★) |
| UMOD C77S | 77 | EGF-like 2 | Pathogenic / likely pathogenic (★★) |
| UMOD A285E | 285 | D10C | Pathogenic / likely pathogenic (★★) |
| UMOD A461E | 461 | ZP | Pathogenic / likely pathogenic (★★) |
| REN C20R | 20 | Pathogenic / likely pathogenic (★★) | |
| UMOD R204G | 204 | D10C | Pathogenic / likely pathogenic (★★) |
| UMOD C120F | 120 | EGF-like 3 | Pathogenic / likely pathogenic (★) |
| UMOD R185S | 185 | D10C | Pathogenic / likely pathogenic (★) |
| UMOD C83S | 83 | EGF-like 2 | Pathogenic / likely pathogenic (★) |
| UMOD C83W | 83 | EGF-like 2 | Pathogenic / likely pathogenic (★) |
| UMOD C120G | 120 | EGF-like 3 | Pathogenic / likely pathogenic (★) |
| UMOD C217W | 217 | D10C | Pathogenic / likely pathogenic (★) |
| UMOD C83F | 83 | EGF-like 2 | Pathogenic / likely pathogenic (★) |
| UMOD G105C | 105 | EGF-like 2 | Pathogenic / likely pathogenic (★) |
| UMOD G105D | 105 | EGF-like 2 | Pathogenic / likely pathogenic (★) |
| UMOD W230R | 230 | D10C | Pathogenic / likely pathogenic (★) |
| UMOD W258C | 258 | D10C | Pathogenic / likely pathogenic (★) |
| UMOD C50W | 50 | EGF-like 1 | Pathogenic / likely pathogenic (★) |
| UMOD C50S | 50 | EGF-like 1 | Pathogenic / likely pathogenic (★) |
| UMOD W184C | 184 | D10C | Pathogenic / likely pathogenic (★) |
| UMOD D196G | 196 | D10C | Pathogenic / likely pathogenic (★) |
| UMOD C174R | 174 | D10C | Pathogenic / likely pathogenic (★) |
| UMOD D196N | 196 | D10C | Pathogenic / likely pathogenic (★) |
| UMOD R245C | 245 | D10C | Pathogenic / likely pathogenic (★) |
| UMOD C63W | 63 | EGF-like 1 | Pathogenic / likely pathogenic (★) |
| UMOD E68V | 68 | EGF-like 2 | Pathogenic / likely pathogenic (★) |
| UMOD C112Y | 112 | EGF-like 3 | Pathogenic / likely pathogenic (★) |
| UMOD C126R | 126 | EGF-like 3 | Pathogenic / likely pathogenic (★) |
| UMOD Q316P | 316 | EGF-like 4 | Pathogenic / likely pathogenic (★) |
| UMOD W31C | 31 | EGF-like 1 | Pathogenic / likely pathogenic (★) |
| UMOD G55S | 55 | EGF-like 1 | Pathogenic / likely pathogenic (★) |
| UMOD C92W | 92 | EGF-like 2 | Pathogenic / likely pathogenic (★) |
| UMOD G270C | 270 | D10C | Pathogenic / likely pathogenic (★) |
| UMOD C297W | 297 | EGF-like 4 | Pathogenic / likely pathogenic (★) |
| UMOD C217R | 217 | D10C | Pathogenic / likely pathogenic |
| UMOD C248R | 248 | D10C | Pathogenic / likely pathogenic |
| UMOD C217G | 217 | D10C | Pathogenic / likely pathogenic |
| UMOD C248S | 248 | D10C | Pathogenic / likely pathogenic |
| UMOD C255Y | 255 | D10C | Pathogenic / likely pathogenic |
| UMOD C77Y | 77 | EGF-like 2 | Pathogenic / likely pathogenic |
| UMOD C315R | 315 | EGF-like 4 | Pathogenic / likely pathogenic |
| REN L16H | 16 | Pathogenic / likely pathogenic | |
| REN L16R | 16 | Pathogenic / likely pathogenic | |
| UMOD C94R | 94 | EGF-like 2 | Pathogenic / likely pathogenic |
| UMOD C148W | 148 | EGF-like 3 | Pathogenic / likely pathogenic |
| UMOD C300G | 300 | EGF-like 4 | Pathogenic / likely pathogenic |
| UMOD H36Y | 36 | EGF-like 1 | Pathogenic / likely pathogenic |
| UMOD N128S | 128 | EGF-like 3 | Pathogenic / likely pathogenic |
Uncertain variants prioritized for review in Hyperuricemia - anemia - renal failure
| Variant | Position | Protein part | Clinical label | Evidence |
|---|---|---|---|---|
| UMOD C120Y | 120 | EGF-like 3 | Conflicting reports (★) | +7: 3 other pathogenic changes within 3 positions; C120G at the same position is pathogenic; seen in 1.4e-06 of gnomAD DNA copies; REVEL 0.954 |
| UMOD C106F | 106 | EGF-like 2 | Conflicting reports (★) | +7: 3 other pathogenic changes within 3 positions; C106Y at the same position is pathogenic; seen in 6.6e-06 of gnomAD DNA copies; REVEL 0.906 |
| UMOD R204C | 204 | D10C | Conflicting reports (★) | +7: R204G at the same position is pathogenic; seen in 7.1e-07 of gnomAD DNA copies; REVEL 0.943 |
Which prediction tools work for Hyperuricemia - anemia - renal failure
Observed separation of ClinVar pathogenic / likely pathogenic from benign / likely benign variants (AUROC × 100). This benchmark is not a clinical recommendation.
- REVEL: 100 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- CATVariant: 99 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- CADD: 98 out of 100
- SIFT: 96 out of 100
- PolyPhen-2: 93 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- phyloP: 85 out of 100
Diseases related to Hyperuricemia - anemia - renal failure
- Renal tubular dysgenesis, also linked to REN
- Kidney disorder, also linked to UMOD
- Autosomal dominant medullary cystic kidney disease with or without hyperuricemia, also linked to UMOD
- Renal tubular dysgenesis of genetic origin, also linked to REN
Frequently asked questions
Which genes have records linked to Hyperuricemia - anemia - renal failure?
This view contains 2 analyzed proteins: UMOD, REN. Links come from clinical records and association databases. They do not imply that every listed gene is a validated cause, and missing genes may not yet be analyzed.
What do the clinical classifications mean?
Linked records include 56 pathogenic or likely pathogenic variants, 121 variants of uncertain significance and 33 with conflicting classifications. Labels summarize source records; multi-condition records may not make a separate assertion for this disease. Check the original record and review status.
Does the evidence score change a VUS classification?
No. 3 VUS or conflicting variants reach the likely-pathogenic points range on the computable criteria available here. This is a research prioritization signal, not a clinical classification. Patient, family and other required evidence may be missing.
Can I download the variant evidence?
Download the CSV for all 231 variants in the selected disease scope, including clinical labels, review status, evidence criteria, predictor scores, functional measurements and population frequency where available.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from eligible public CATVariant analyses of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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