Kidney failure
diseaseOn this page
Also known as failure, renalrenal failurerenal failure syndromerenal insufficiency
Summary
Kidney failure (MONDO:0001106) is a disease with 16 cohort genes (112 GWAS associations across 31 studies) and 755 clinical trials. Top therapeutic interventions include sirolimus, fondaparinux, and canagliflozin anhydrous.
At a glance
- Cohort genes: 16
- GWAS associations: 112
- ClinVar variants: 25
- Clinical trials: 755
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | kidney failure |
| Mondo ID | MONDO:0001106 |
| EFO | EFO:1002048 |
| MeSH | D051437 |
| DOID | DOID:1074 |
| ICD-11 | 761526554 |
| NCIT | C4376 |
| SNOMED CT | 42399005 |
| UMLS | C0035078 |
| MedGen | 11177 |
| Is cancer (heuristic) | no |
Also known as: failure, renal · renal failure · renal failure syndrome · renal insufficiency
Data availability: 25 ClinVar variants · 112 GWAS associations (31 studies).
Disease family
An umbrella term covering 3 Mondo subtypes.
Classification path: disease › human disease › disease by body system or component › urinary system disorder › kidney disorder › kidney failure
Related subtypes (56): renal hypertension, nephritis, impaired renal function disease, nephrocalcinosis, atheroembolism of kidney, renal artery disease, nephrosis, cystic kidney disease, anuria, stricture or kinking of ureter, 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
Subtypes (3): acute kidney injury, uremia, chronic renal failure syndrome
Genetics & variants
GWAS landscape
112 GWAS associations across 31 studies. Top hits map to 18 distinct genes (as reported by GWAS).
Top associations by p-value
| rsID | p-value | Gene | Risk allele | Odds ratio |
|---|---|---|---|---|
| rs28362063 | 4e-145 | UMOD | T | 0.21 |
| rs77924615 | 5e-120 | PDILT | G | 0.2 |
| rs6464165 | 1e-53 | PRKAG2 | T | 0.09 |
| rs73728279 | 6e-42 | PRKAG2 | G | 0.1 |
| rs10224210 | 4e-40 | PRKAG2 | T | 0.09 |
| rs3925584 | 6e-37 | MPPED2-AS1 - DCDC1 | T | 0.06 |
| rs7903146 | 8e-29 | TCF7L2 | C | 0.07 |
| rs34872471 | 5e-28 | TCF7L2 | T | 0.07 |
| chr16:53799977 | 9e-28 | T | 0.06 | |
| rs60910145 | 3e-26 | APOL1 | T | 0.14 |
| rs2486272 | 8e-26 | GATM | T | 0.07 |
| rs2467865 | 1e-25 | SLC28A2-AS1 - RNU6-953P | T | 0.05 |
| chr15:53964746 | 4e-25 | G | 0.06 | |
| rs334 | 4e-25 | HBB | T | 0.28 |
| chr15:45689095 | 1e-24 | T | 0.06 | |
| rs73885319 | 2e-23 | APOL1 | A | 0.28 |
| chr15:53965346 | 1e-21 | A | 0.06 | |
| rs80025274 | 7e-21 | WDR72 | C | 0.07 |
| chr5:697392 | 2e-20 | G | 0.09 | |
| chr15:39227715 | 7e-20 | C | 0.06 | |
| rs17730281 | 2e-19 | WDR72 | G | 0.06 |
| chr22:43129361 | 3e-19 | A | 0.05 | |
| rs62048402 | 5e-19 | FTO | G | 0.06 |
| chr15:45694768 | 3e-18 | G | 0.1 | |
| chr11:65512057 | 3e-18 | T | 0.05 | |
| chr4:144046597 | 2e-17 | T | 0.05 | |
| rs4269133 | 3e-17 | USP38-DT | C | 0.06 |
| rs28910285 | 9e-17 | A4GALT | T | 0.05 |
| rs8026743 | 1e-16 | LINC02694 | G | 0.05 |
| rs11642015 | 2e-16 | FTO | C | 0.05 |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST90476118 | Verma A | 2024 | 88,771 | 333,750 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90476123 | Verma A | 2024 | 63,705 | 368,937 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90476119 | Verma A | 2024 | 42,394 | 382,809 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90476117 | Verma A | 2024 | 31,017 | 82,005 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90480380 | Verma A | 2024 | 31,017 | 82,005 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90476122 | Verma A | 2024 | 21,844 | 94,448 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90480379 | Verma A | 2024 | 21,844 | 94,448 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90478521 | Verma A | 2024 | 16,080 | 96,703 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90480373 | Verma A | 2024 | 16,080 | 96,703 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90478518 | Verma A | 2024 | 9,310 | 47,503 | 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 | 6 |
| Tier 2: splice/UTR | 0 |
| Tier 3: regulatory | 0 |
| Tier 4: intronic/intergenic | 44 |
MAF distribution
| Bucket | Variants |
|---|---|
| common (>=0.05) | 45 |
| low_freq (0.01-0.05) | 4 |
| rare (<0.01) | 1 |
| unknown | 0 |
Functional consequences
| Consequence | Count |
|---|---|
| intron_variant | 21 |
| unknown | 16 |
| missense_variant | 6 |
| intergenic_variant | 6 |
| non_coding_transcript_exon_variant | 1 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| rs28362063 | 16 | 20353690 | T>C | 0.178 | intron_variant | UMOD | 4e-145 | Tier 4: intronic/intergenic |
| rs77924615 | 16 | 20381010 | G>A | 0.174 | intron_variant | PDILT | 5e-120 | Tier 4: intronic/intergenic |
| rs6464165 | 7 | 151716038 | T>C | 0.282 | intron_variant | PRKAG2 | 1e-53 | Tier 4: intronic/intergenic |
| rs73728279 | 7 | 151714408 | G>A,T | 0.234 | intron_variant | PRKAG2 | 6e-42 | Tier 4: intronic/intergenic |
| rs10224210 | 7 | 151716108 | T>C | 0.233 | intron_variant | PRKAG2 | 4e-40 | Tier 4: intronic/intergenic |
| rs3925584 | 11 | 30738788 | T>A,C,G | 0.454 | intron_variant | MPPED2-AS1 - DCDC1 | 6e-37 | Tier 4: intronic/intergenic |
| rs7903146 | 10 | 112998590 | C>G,T | 0.289 | intron_variant | TCF7L2 | 8e-29 | Tier 4: intronic/intergenic |
| rs34872471 | 10 | 112994312 | T>C | 0.293 | intron_variant | TCF7L2 | 5e-28 | Tier 4: intronic/intergenic |
| chr16:53799977 | 0.428 | 9e-28 | Tier 4: intronic/intergenic | |||||
| rs60910145 | 22 | 36265988 | T>C,G | 0.044 | missense_variant | APOL1 | 3e-26 | Tier 1: coding |
| rs2486272 | 15 | 45380055 | T>A,C,G | 0.386 | intron_variant | GATM | 8e-26 | Tier 4: intronic/intergenic |
| rs2467865 | 15 | 45346109 | T>A,C,G | 0.373 | intergenic_variant | SLC28A2-AS1 - RNU6-953P | 1e-25 | Tier 4: intronic/intergenic |
| chr15:53964746 | 0.499 | 4e-25 | Tier 4: intronic/intergenic | |||||
| rs334 | 11 | 5227002 | T>A,C,G | 0.038 | missense_variant | HBB | 4e-25 | Tier 1: coding |
| chr15:45689095 | 0.414 | 1e-24 | Tier 4: intronic/intergenic | |||||
| rs73885319 | 22 | 36265860 | A>G | 0.044 | missense_variant | APOL1 | 2e-23 | Tier 1: coding |
| chr15:53965346 | 0.208 | 1e-21 | Tier 4: intronic/intergenic | |||||
| rs80025274 | 15 | 53654970 | C>A,G,T | 0.206 | intron_variant | WDR72 | 7e-21 | Tier 4: intronic/intergenic |
| chr5:697392 | 0.383 | 2e-20 | Tier 4: intronic/intergenic | |||||
| chr15:39227715 | 0.367 | 7e-20 | Tier 4: intronic/intergenic | |||||
| rs17730281 | 15 | 53615751 | G>A | 0.221 | missense_variant | WDR72 | 2e-19 | Tier 1: coding |
| chr22:43129361 | 0.329 | 3e-19 | Tier 4: intronic/intergenic | |||||
| rs62048402 | 16 | 53769311 | G>A,T | 0.329 | intron_variant | FTO | 5e-19 | Tier 4: intronic/intergenic |
| chr15:45694768 | 0.413 | 3e-18 | Tier 4: intronic/intergenic | |||||
| chr11:65512057 | 0.352 | 3e-18 | Tier 4: intronic/intergenic | |||||
| chr4:144046597 | 0.361 | 2e-17 | Tier 4: intronic/intergenic | |||||
| rs4269133 | 4 | 143125692 | C>A,G,T | 0.363 | intron_variant | USP38-DT | 3e-17 | Tier 4: intronic/intergenic |
| rs28910285 | 22 | 42720979 | T>A,C | 0.318 | intron_variant | A4GALT | 9e-17 | Tier 4: intronic/intergenic |
| rs8026743 | 15 | 38937539 | G>A | 0.316 | intron_variant | LINC02694 | 1e-16 | Tier 4: intronic/intergenic |
| rs11642015 | 16 | 53768582 | C>G,T | 0.329 | intron_variant | FTO | 2e-16 | Tier 4: intronic/intergenic |
ClinVar germline variants
25 retrieved; paginated sample, class counts are floors:
11 uncertain significance, 8 conflicting classifications of pathogenicity, 2 pathogenic/likely pathogenic, 2 likely pathogenic, 1 benign/likely benign, 1 pathogenic
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 817020 | NM_014967.5(FAN1):c.1899del (p.Cys633fs) | FAN1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 4846739 | GRCh38/hg38 2q13(chr2:110116103-110226292)x1 | LOC126806306 | Pathogenic | criteria provided, single submitter |
| 2942258 | NM_003611.3(OFD1):c.1651_1654del (p.Thr551fs) | OFD1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 4075234 | NM_000537.4(REN):c.28T>C (p.Trp10Arg) | LOC107548112 | Likely pathogenic | criteria provided, single submitter |
| 4075232 | NM_003361.4(UMOD):c.274T>C (p.Cys92Arg) | UMOD | Likely pathogenic | criteria provided, single submitter |
| 66014 | NM_000204.5(CFI):c.355G>A (p.Gly119Arg) | CFI | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 290949 | NM_014425.5(INVS):c.2224G>A (p.Val742Met) | INVS | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 1049509 | NM_001204288.2(MUC1):c.493G>A (p.Gly165Ser) | MUC1 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 257013 | NM_001009944.3(PKD1):c.8161+5C>T | PKD1 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 1153523 | NM_000297.4(PKD2):c.1717-7C>T | PKD2 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 96431 | NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala) | PKHD1 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 262755 | NM_153704.6(TMEM67):c.717A>G (p.Val239=) | TMEM67 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 64699 | NM_000368.5(TSC1):c.853T>G (p.Phe285Val) | TSC1 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 4074775 | NM_001845.6(COL4A1):c.614C>A (p.Pro205Gln) | COL4A1 | Uncertain significance | criteria provided, single submitter |
| 290948 | NM_014425.5(INVS):c.3016+5C>T | INVS | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 3698797 | NM_002473.6(MYH9):c.4570G>C (p.Glu1524Gln) | MYH9 | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 3343016 | NM_178170.3(NEK8):c.2036T>C (p.Leu679Pro) | NEK8 | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 4077139 | NM_178170.3(NEK8):c.2033C>A (p.Thr678Asn) | NEK8 | Uncertain significance | criteria provided, single submitter |
| 1256448 | NM_001009944.3(PKD1):c.6679C>T (p.His2227Tyr) | PKD1 | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 4075017 | NM_000297.4(PKD2):c.1716+5T>C | PKD2 | Uncertain significance | criteria provided, single submitter |
| 631985 | NM_138694.4(PKHD1):c.12142C>T (p.Gln4048Ter) | PKHD1 | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 285516 | NM_153704.6(TMEM67):c.1700A>G (p.Tyr567Cys) | TMEM67 | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 1437395 | NM_003361.4(UMOD):c.1640G>A (p.Arg547Gln) | UMOD | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 917864 | NM_003361.4(UMOD):c.202G>A (p.Glu68Lys) | UMOD | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 433938 | NM_001009944.3(PKD1):c.214C>T (p.Leu72=) | PKD1 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 0 · Orphanet: 46 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0
Orphanet rare-disease linkage (cohort genes)
| Gene | Orphanet ID | Rare disease |
|---|---|---|
| TSC1 | Orphanet:210159 | Adult hepatocellular carcinoma |
| TSC1 | Orphanet:269008 | Isolated focal cortical dysplasia type IIb |
| TSC1 | Orphanet:538 | Lymphangioleiomyomatosis |
| TSC1 | Orphanet:805 | Tuberous sclerosis complex |
| UMOD | Orphanet:88950 | UMOD-related autosomal dominant tubulointerstitial kidney disease |
| NEK8 | Orphanet:294415 | Renal-hepatic-pancreatic dysplasia |
| NEK8 | Orphanet:730 | Autosomal dominant polycystic kidney disease |
| NEK8 | Orphanet:93591 | Infantile nephronophthisis |
| INVS | Orphanet:3156 | Senior-Loken syndrome |
| INVS | Orphanet:93591 | Infantile nephronophthisis |
| NEK9 | Orphanet:464366 | NEK9-related lethal skeletal dysplasia |
| NEK9 | Orphanet:64754 | Nevus comedonicus syndrome |
| COL4A1 | Orphanet:36383 | COL4A1/2-related familial vascular leukoencephalopathy |
| COL4A1 | Orphanet:477749 | Pontine autosomal dominant microangiopathy with leukoencephalopathy |
| COL4A1 | Orphanet:481986 | Familial schizencephaly |
| COL4A1 | Orphanet:73229 | HANAC syndrome |
| COL4A1 | Orphanet:75326 | Familial isolated retinal arteriolar tortuosity |
| COL4A1 | Orphanet:899 | Walker-Warburg syndrome |
| COL4A1 | Orphanet:99810 | Familial porencephaly |
| OFD1 | Orphanet:244 | Primary ciliary dyskinesia |
| OFD1 | Orphanet:2750 | Orofaciodigital syndrome type 1 |
| OFD1 | Orphanet:2754 | Orofaciodigital syndrome type 6 |
| OFD1 | Orphanet:475 | Isolated Joubert syndrome |
| OFD1 | Orphanet:791 | Retinitis pigmentosa |
| TMEM67 | Orphanet:140976 | RHYNS syndrome |
| TMEM67 | Orphanet:1454 | Joubert syndrome with hepatic defect |
| TMEM67 | Orphanet:475 | Isolated Joubert syndrome |
| TMEM67 | Orphanet:564 | Meckel syndrome |
| TMEM67 | Orphanet:84081 | Senior-Boichis syndrome |
| FAN1 | Orphanet:401996 | Karyomegalic interstitial nephritis |
| CFI | Orphanet:200418 | Immunodeficiency with factor I anomaly |
| CFI | Orphanet:244242 | HELLP syndrome |
| CFI | Orphanet:244275 | De novo thrombotic microangiopathy after kidney transplantation |
| CFI | Orphanet:544472 | Atypical hemolytic uremic syndrome with complement gene abnormality |
| CFI | Orphanet:75376 | Familial drusen |
| MUC1 | Orphanet:88949 | MUC1-related autosomal dominant tubulointerstitial kidney disease |
| MYH9 | Orphanet:182050 | MYH9-related syndromic thrombocytopenia |
| MYH9 | Orphanet:477742 | Nodular fasciitis |
| MYH9 | Orphanet:90635 | Rare autosomal dominant non-syndromic sensorineural deafness type DFNA |
| PKD1 | Orphanet:730 | Autosomal dominant polycystic kidney disease |
| PKD1 | Orphanet:88924 | Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis |
| PKD2 | Orphanet:730 | Autosomal dominant polycystic kidney disease |
| PKHD1 | Orphanet:53035 | Caroli disease |
| PKHD1 | Orphanet:731 | Autosomal recessive polycystic kidney disease |
| PRKD1 | Orphanet:276145 | Malignant epithelial tumor of salivary glands |
| PRKD1 | Orphanet:708019 | Congenital heart defect-ectodermal dysplasia- brachydactyly-telangiectasia syndrome |
Cohort genes → proteins
16 cohort genes, 16 distinct canonical proteins.
Evidence partition
| Subset | Genes |
|---|---|
| multi_evidence | 16 |
Cohort genes (full)
| Symbol | HGNC | Ensembl | UniProt | Name | Evidence |
|---|---|---|---|---|---|
| TSC1 | HGNC:12362 | ENSG00000165699 | Q92574 | Hamartin | clinvar |
| UMOD | HGNC:12559 | ENSG00000169344 | P07911 | Uromodulin | clinvar |
| NEK8 | HGNC:13387 | ENSG00000160602 | Q86SG6 | Serine/threonine-protein kinase Nek8 | clinvar |
| INVS | HGNC:17870 | ENSG00000119509 | Q9Y283 | Inversin | clinvar |
| NEK9 | HGNC:18591 | ENSG00000119638 | Q8TD19 | Serine/threonine-protein kinase Nek9 | clinvar |
| COL4A1 | HGNC:2202 | ENSG00000187498 | P02462 | Collagen alpha-1(IV) chain | clinvar |
| OFD1 | HGNC:2567 | ENSG00000046651 | O75665 | Centriole and centriolar satellite protein OFD1 | clinvar |
| TMEM67 | HGNC:28396 | ENSG00000164953 | Q5HYA8 | Meckelin | clinvar |
| FAN1 | HGNC:29170 | ENSG00000198690 | Q9Y2M0 | Fanconi-associated nuclease 1 | clinvar |
| CFI | HGNC:5394 | ENSG00000205403 | P05156 | Complement factor I | clinvar |
| MUC1 | HGNC:7508 | ENSG00000185499 | P15941 | Mucin-1 | clinvar |
| MYH9 | HGNC:7579 | ENSG00000100345 | P35579 | Myosin-9 | clinvar |
| PKD1 | HGNC:9008 | ENSG00000008710 | P98161 | Polycystin-1 | clinvar |
| PKD2 | HGNC:9009 | ENSG00000118762 | Q13563 | Polycystin-2 | clinvar |
| PKHD1 | HGNC:9016 | ENSG00000170927 | P08F94 | Fibrocystin | clinvar |
| PRKD1 | HGNC:9407 | ENSG00000184304 | Q15139 | Serine/threonine-protein kinase D1 | clinvar |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| TSC1 | Hamartin | Non-catalytic component of the TSC-TBC complex, a multiprotein complex that acts as a negative regulator of the canonical mTORC1 complex, an evolutionarily conserved central nutrient sensor that stimulates anabolic reactions and macromolec… |
| UMOD | Uromodulin | Functions in biogenesis and organization of the apical membrane of epithelial cells of the thick ascending limb of Henle’s loop (TALH), where it promotes formation of complex filamentous gel-like structure that may play a role in the water… |
| NEK8 | Serine/threonine-protein kinase Nek8 | Required for renal tubular integrity. |
| INVS | Inversin | Required for normal renal development and establishment of left-right axis. |
| NEK9 | Serine/threonine-protein kinase Nek9 | Pleiotropic regulator of mitotic progression, participating in the control of spindle dynamics and chromosome separation. |
| COL4A1 | Collagen alpha-1(IV) chain | Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a ‘chicken-wire’ meshwork together with laminins, proteoglycans and entactin/nidogen. |
| OFD1 | Centriole and centriolar satellite protein OFD1 | Component of the centrioles controlling mother and daughter centrioles length. |
| TMEM67 | Meckelin | Required for ciliary structure and function. |
| FAN1 | Fanconi-associated nuclease 1 | Nuclease required for the repair of DNA interstrand cross-links (ICL) recruited at sites of DNA damage by monoubiquitinated FANCD2. |
| CFI | Complement factor I | Trypsin-like serine protease that plays an essential role in regulating the immune response by controlling all complement pathways. |
| MUC1 | Mucin-1 | The alpha subunit has cell adhesive properties. |
| MYH9 | Myosin-9 | Cellular myosin that appears to play a role in cytokinesis, cell shape, and specialized functions such as secretion and capping. |
| PKD1 | Polycystin-1 | Component of a heteromeric calcium-permeable ion channel formed by PKD1 and PKD2 that is activated by interaction between PKD1 and a Wnt family member, such as WNT3A and WNT9B. |
| PKD2 | Polycystin-2 | Forms a nonselective cation channel. |
| PKHD1 | Fibrocystin | Promotes ciliogenesis in renal epithelial cells and therefore participates in the tubules formation and/ or ensures the maintenance of the architecture of the lumen of the kidney. |
| PRKD1 | Serine/threonine-protein kinase D1 | Serine/threonine-protein kinase that converts transient diacylglycerol (DAG) signals into prolonged physiological effects downstream of PKC, and is involved in the regulation of MAPK8/JNK1 and Ras signaling, Golgi membrane integrity and tr… |
Protein-family classification
Druggable: 6 · Difficult: 2 · Unknown: 8 · Druggable fraction: 0.38
Family distribution
Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.
| Family | Genes | Fold | FDR |
|---|---|---|---|
| Kinase | 3 | 5.2× | 0.092 |
| Antibody/Immunoglobulin | 2 | 3.6× | 0.256 |
| Scaffold/PPI | 2 | 2.2× | 0.393 |
| Protease | 1 | 2.3× | 0.448 |
| Other/Unknown | 8 | 0.9× | 0.765 |
Per-gene assignment
| Symbol | Family | Druggable? | EC | InterPro (top 3) |
|---|---|---|---|---|
| TSC1 | Other/Unknown | no | Hamartin | |
| UMOD | Other/Unknown | no | EGF-type_Asp/Asn_hydroxyl_site, EGF, ZP_dom | |
| NEK8 | Kinase | yes | Reg_chr_condens, Prot_kinase_dom, Ser/Thr_kinase_AS | |
| INVS | Scaffold/PPI | no | IQ_motif_EF-hand-BS, Ankyrin_rpt, Ankyrin_rpt-contain_sf | |
| NEK9 | Kinase | yes | Reg_chr_condens, Prot_kinase_dom, Ser/Thr_kinase_AS | |
| COL4A1 | Other/Unknown | no | Collagen_IV_NC, Collagen, CTDL_fold | |
| OFD1 | Other/Unknown | no | LisH, OFD1 | |
| TMEM67 | Other/Unknown | no | Growth_fac_rcpt_cys_sf, Meckelin | |
| FAN1 | Other/Unknown | no | Rad18_UBZ4, tRNA_endonuc-like_dom_sf, VRR_NUC | |
| CFI | Protease | yes | 3.4.21.45 | SRCR, Trypsin_dom, Peptidase_S1A |
| MUC1 | Other/Unknown | no | SEA_dom, SEA_dom_sf | |
| MYH9 | Scaffold/PPI | no | IQ_motif_EF-hand-BS, Myosin_head_motor_dom-like, Myosin_tail | |
| PKD1 | Antibody/Immunoglobulin | yes | GPS, LRRNT, PC1 | |
| PKD2 | Other/Unknown | no | EF_hand_dom, PKD_2, EF-hand-dom_pair | |
| PKHD1 | Antibody/Immunoglobulin | yes | IPT_dom, PbH1, Pectin_lyase_fold/virulence | |
| PRKD1 | Kinase | yes | 2.7.11.13 | Prot_kinase_dom, PH_domain, PKC_DAG/PE |
Expression context
Cohort genes with no expression data: 0.
14 cohort genes are a single-cell marker in ≥1 SCXA experiment.
Breadth distribution (Bgee present_calls)
| Bucket | Genes |
|---|---|
| narrow (1-5 tissues) | 0 |
| moderate (6-20) | 0 |
| broad (>20) | 16 |
| unknown | 0 |
Top tissues across cohort
| Tissue | Cohort genes |
|---|---|
| calcaneal tendon | 3 |
| renal medulla | 2 |
| buccal mucosa cell | 2 |
| metanephros cortex | 2 |
| right uterine tube | 2 |
| pancreatic ductal cell | 2 |
| right hemisphere of cerebellum | 2 |
| thoracic aorta | 2 |
| gluteal muscle | 1 |
| lateral globus pallidus | 1 |
| substantia nigra pars compacta | 1 |
| adult mammalian kidney | 1 |
| adult organism | 1 |
| left lobe of thyroid gland | 1 |
| adrenal tissue | 1 |
| sural nerve | 1 |
| left ovary | 1 |
| tibia | 1 |
| placenta | 1 |
| right coronary artery | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| TSC1 | 297 | ubiquitous | marker | substantia nigra pars compacta, gluteal muscle, lateral globus pallidus |
| UMOD | 104 | tissue_specific | marker | renal medulla, adult organism, adult mammalian kidney |
| NEK8 | 196 | ubiquitous | marker | buccal mucosa cell, metanephros cortex, left lobe of thyroid gland |
| INVS | 215 | ubiquitous | yes | calcaneal tendon, adrenal tissue, sural nerve |
| NEK9 | 296 | ubiquitous | marker | tibia, right uterine tube, left ovary |
| COL4A1 | 283 | ubiquitous | marker | visceral pleura, placenta, right coronary artery |
| OFD1 | 288 | ubiquitous | marker | sperm, bronchial epithelial cell, cervix squamous epithelium |
| TMEM67 | 203 | ubiquitous | marker | buccal mucosa cell, right uterine tube, calcaneal tendon |
| FAN1 | 214 | ubiquitous | yes | pancreatic ductal cell, right hemisphere of cerebellum, gastrocnemius |
| CFI | 240 | broad | marker | germinal epithelium of ovary, parietal pleura, right lobe of liver |
| MUC1 | 247 | ubiquitous | marker | pylorus, pancreatic ductal cell, nasal cavity epithelium |
| MYH9 | 279 | ubiquitous | marker | stromal cell of endometrium, ascending aorta, thoracic aorta |
| PKD1 | 290 | marker | right hemisphere of cerebellum, cerebellar hemisphere, cerebellar cortex | |
| PKD2 | 288 | ubiquitous | marker | blood vessel layer, calcaneal tendon, saphenous vein |
| PKHD1 | 51 | tissue_specific | marker | kidney epithelium, renal medulla, metanephros cortex |
| PRKD1 | 239 | ubiquitous | marker | ventricular zone, seminal vesicle, thoracic aorta |
Protein interactions among cohort
Intra-cohort edges: 19.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| MYH9 | 5,533 |
| TSC1 | 5,445 |
| COL4A1 | 2,909 |
| OFD1 | 2,878 |
| NEK9 | 2,341 |
| PRKD1 | 2,131 |
| INVS | 2,099 |
| UMOD | 2,084 |
| PKD2 | 1,644 |
| PKD1 | 1,370 |
Intra-cohort edges
| A | B | Sources |
|---|---|---|
| INVS | NEK8 | string_interaction |
| INVS | NEK9 | string_interaction |
| MUC1 | TMEM67 | biogrid_interaction |
| NEK8 | NEK9 | biogrid_interaction |
| NEK8 | PKD1 | string_interaction |
| NEK8 | PKD2 | string_interaction |
| NEK8 | PKHD1 | string_interaction |
| NEK8 | TMEM67 | string_interaction |
| NEK9 | PKD1 | string_interaction |
| NEK9 | PKD2 | string_interaction |
| OFD1 | TMEM67 | string_interaction |
| PKD1 | PKD2 | biogrid_interaction, intact, string_interaction |
| PKD1 | PKHD1 | string_interaction |
| PKD1 | PRKD1 | string_interaction |
| PKD1 | TSC1 | string_interaction |
| PKD2 | PKHD1 | string_interaction |
| PKD2 | PRKD1 | string_interaction |
| PKHD1 | PRKD1 | string_interaction |
| PKHD1 | UMOD | string_interaction |
Structural data
PDB: 11 · AlphaFold-only: 5 · No structure: 0
Cohort genes with PDB structures (top 30)
| Symbol | UniProt | PDB entries |
|---|---|---|
| PKD2 | Q13563 | 31 |
| MUC1 | P15941 | 23 |
| FAN1 | Q9Y2M0 | 18 |
| PKD1 | P98161 | 13 |
| UMOD | P07911 | 10 |
| MYH9 | P35579 | 8 |
| TSC1 | Q92574 | 5 |
| COL4A1 | P02462 | 4 |
| NEK9 | Q8TD19 | 2 |
| CFI | P05156 | 2 |
| TMEM67 | Q5HYA8 | 1 |
AlphaFold-only cohort genes (top 30 by pLDDT)
| Symbol | UniProt | pLDDT |
|---|---|---|
| NEK8 | Q86SG6 | 85.23 |
| INVS | Q9Y283 | 70.76 |
| PRKD1 | Q15139 | 68.99 |
| OFD1 | O75665 | 68.41 |
| PKHD1 | P08F94 |
Function
Pathway analysis
Distinct Reactome pathways touched by cohort: 105. Enrichment computed across 16 evidence-associated genes (13 with Reactome annotation).
Pathways by enrichment
Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 13 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| Pathway | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| VxPx cargo-targeting to cilium | 2 | 79.9× | 0.029 | PKD1, PKD2 |
| Inhibition of TSC complex formation by AKT (PKB) | 1 | 175.7× | 0.121 | TSC1 |
| Activation of NIMA Kinases NEK9, NEK6, NEK7 | 1 | 109.8× | 0.121 | NEK9 |
| CD163 mediating an anti-inflammatory response | 1 | 87.8× | 0.121 | MYH9 |
| Anchoring fibril formation | 1 | 58.6× | 0.121 | COL4A1 |
| Defective GALNT3 causes HFTC | 1 | 54.9× | 0.121 | MUC1 |
| Defective GALNT12 causes CRCS1 | 1 | 54.9× | 0.121 | MUC1 |
| Sema4D in semaphorin signaling | 1 | 51.7× | 0.121 | MYH9 |
| Defective C1GALT1C1 causes TNPS | 1 | 51.7× | 0.121 | MUC1 |
| Developmental Lineage of Mammary Gland Alveolar Cells | 1 | 48.8× | 0.121 | MUC1 |
| Scavenging by Class A Receptors | 1 | 46.2× | 0.121 | COL4A1 |
| RHO GTPases activate CIT | 1 | 46.2× | 0.121 | MYH9 |
| RHO GTPases Activate ROCKs | 1 | 46.2× | 0.121 | MYH9 |
| Fibronectin matrix formation | 1 | 43.9× | 0.121 | COL4A1 |
| Crosslinking of collagen fibrils | 1 | 43.9× | 0.121 | COL4A1 |
| Sema4D induced cell migration and growth-cone collapse | 1 | 43.9× | 0.121 | MYH9 |
| RHO GTPases activate PAKs | 1 | 41.8× | 0.121 | MYH9 |
| Attachment of bacteria to epithelial cells | 1 | 38.2× | 0.121 | COL4A1 |
| Termination of O-glycan biosynthesis | 1 | 38.2× | 0.121 | MUC1 |
| Nuclear Envelope Breakdown | 1 | 35.1× | 0.121 | NEK9 |
| Developmental Lineage of Mammary Gland Luminal Epithelial Cells | 1 | 35.1× | 0.121 | MUC1 |
| Dectin-2 family | 1 | 32.5× | 0.121 | MUC1 |
| Semaphorin interactions | 1 | 30.3× | 0.121 | MYH9 |
| Energy dependent regulation of mTOR by LKB1-AMPK | 1 | 30.3× | 0.121 | TSC1 |
| Anti-inflammatory response favouring Leishmania parasite infection | 1 | 30.3× | 0.121 | MYH9 |
| Leishmania parasite growth and survival | 1 | 30.3× | 0.121 | MYH9 |
| Laminin interactions | 1 | 29.3× | 0.121 | COL4A1 |
| EPHA-mediated growth cone collapse | 1 | 29.3× | 0.121 | MYH9 |
| Mitotic Prophase | 1 | 28.3× | 0.121 | NEK9 |
| Parasite infection | 1 | 26.6× | 0.121 | MYH9 |
GO biological processes by enrichment
Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 16 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| GO term | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| metanephric ascending thin limb development | 3 | 789.9× | 8e-07 | UMOD, PKD1, PKD2 |
| mesonephric tubule development | 2 | 1053.2× | 1e-04 | PKD1, PKD2 |
| renal tubule morphogenesis | 2 | 526.6× | 4e-04 | COL4A1, PKD2 |
| kidney development | 4 | 35.1× | 4e-04 | TSC1, INVS, PKD1, PKHD1 |
| mesonephric duct development | 2 | 421.3× | 5e-04 | PKD1, PKD2 |
| placenta blood vessel development | 2 | 175.5× | 0.003 | PKD1, PKD2 |
| regulation of cell-matrix adhesion | 2 | 162.0× | 0.003 | TSC1, PKHD1 |
| detection of mechanical stimulus | 2 | 150.5× | 0.003 | PKD1, PKD2 |
| protein heterotetramerization | 2 | 131.7× | 0.003 | PKD1, PKD2 |
| intracellular calcium ion homeostasis | 3 | 27.2× | 0.005 | UMOD, PKD2, PKHD1 |
| embryonic placenta development | 2 | 95.8× | 0.005 | PKD1, PKD2 |
| branching morphogenesis of an epithelial tube | 2 | 91.6× | 0.005 | PKD1, PKHD1 |
| neural tube development | 2 | 65.8× | 0.009 | PKD1, PKD2 |
| spinal cord development | 2 | 63.8× | 0.009 | PKD1, PKD2 |
| Wnt signaling pathway | 3 | 18.7× | 0.009 | INVS, PKD1, PKD2 |
| citric acid secretion | 1 | 1053.2× | 0.012 | UMOD |
| metanephric cortex development | 1 | 1053.2× | 0.012 | PKD2 |
| metanephric cortical collecting duct development | 1 | 1053.2× | 0.012 | PKD2 |
| metanephric distal tubule development | 1 | 1053.2× | 0.012 | PKD2 |
| metanephric distal tubule morphogenesis | 1 | 1053.2× | 0.012 | PKD1 |
| regulation of cholangiocyte proliferation | 1 | 1053.2× | 0.012 | PKHD1 |
| protein localization to ciliary inversin compartment | 1 | 1053.2× | 0.012 | INVS |
| heart development | 3 | 14.8× | 0.012 | NEK8, PKD1, PKD2 |
| organ or tissue specific immune response | 1 | 526.6× | 0.012 | UMOD |
| response to water deprivation | 1 | 526.6× | 0.012 | UMOD |
| regulation of skeletal muscle contraction by modulation of calcium ion sensitivity of myofibril | 1 | 526.6× | 0.012 | PRKD1 |
| uropod organization | 1 | 526.6× | 0.012 | MYH9 |
| protein transport into plasma membrane raft | 1 | 526.6× | 0.012 | UMOD |
| cortical granule exocytosis | 1 | 526.6× | 0.012 | MYH9 |
| renal artery morphogenesis | 1 | 526.6× | 0.012 | PKD2 |
Therapeutics
Drugs indicated for this disease
3 approved, 18 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.
| Drug | Development status |
|---|---|
| Calcium Acetate | Approved (phase 4) |
| Captopril | Approved (phase 4) |
| Terlipressin | Approved (phase 4) |
| Apixaban | Phase 3 (in late-stage trials) |
| Atorvastatin | Phase 3 (in late-stage trials) |
| Citric Acid | Phase 3 (in late-stage trials) |
| Cyclosporine | Phase 3 (in late-stage trials) |
| Dapagliflozin | Phase 3 (in late-stage trials) |
| Daptomycin | Phase 3 (in late-stage trials) |
| Everolimus | Phase 3 (in late-stage trials) |
| Fenoldopam | Phase 3 (in late-stage trials) |
| Furosemide | Phase 3 (in late-stage trials) |
| Heparin | Phase 3 (in late-stage trials) |
| Methylprednisolone | Phase 3 (in late-stage trials) |
| Mycophenolate Mofetil | Phase 3 (in late-stage trials) |
| Rivaroxaban | Phase 3 (in late-stage trials) |
| Rosuvastatin | Phase 3 (in late-stage trials) |
| Sodium Bicarbonate | Phase 3 (in late-stage trials) |
| Sodium Chloride | Phase 3 (in late-stage trials) |
| Tacrolimus Anhydrous | Phase 3 (in late-stage trials) |
| Tonapofylline | Phase 3 (in late-stage trials) |
Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Alfacalcidol, Amino Acids, Desflurane, Epoetin Beta, Imiquimod, Nesiritide, Pirfenidone, Rituximab, Sevoflurane, Sirolimus.
Drug target analysis
Approved (phase 4): 2 · Phase ≥3: 2 · Phased (≥1): 3 · Undrugged: 13
Druggability breadth: 8 of 16 evidence-associated genes (50%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).
Genes with an approved drug
The molecule shown is one approved compound that hits the gene — not necessarily a drug of choice or one indicated for this disease.
| Symbol | Example approved molecule |
|---|---|
| NEK9 | MOMELOTINIB |
| PRKD1 | INGENOL MEBUTATE |
Top cohort targets by molecule count
| Symbol | Molecules | Max phase |
|---|---|---|
| PRKD1 | 26 | 4 |
| NEK9 | 21 | 4 |
| MYH9 | 1 | 2 |
| TSC1 | 0 | 0 |
| UMOD | 0 | 0 |
| NEK8 | 0 | 0 |
| INVS | 0 | 0 |
| COL4A1 | 0 | 0 |
| OFD1 | 0 | 0 |
| TMEM67 | 0 | 0 |
Drugs targeting cohort genes (top 30)
| Molecule | Max phase | Targets in cohort |
|---|---|---|
| MOMELOTINIB | 4 | NEK9 |
| FEDRATINIB | 4 | NEK9 |
| DABRAFENIB | 4 | NEK9 |
| PACRITINIB | 4 | NEK9 |
| FOSTAMATINIB | 4 | NEK9 |
| CRIZOTINIB | 4 | NEK9, PRKD1 |
| INGENOL MEBUTATE | 4 | PRKD1 |
| MIDOSTAURIN | 4 | PRKD1 |
| TAMOXIFEN | 4 | PRKD1 |
| NERATINIB | 4 | PRKD1 |
| BRIGATINIB | 4 | PRKD1 |
| NINTEDANIB | 4 | PRKD1 |
| SUNITINIB | 4 | PRKD1 |
| GEFITINIB | 4 | PRKD1 |
| DOVITINIB | 3 | NEK9 |
| LESTAURTINIB | 3 | NEK9, PRKD1 |
| SURAMIN | 3 | PRKD1 |
| FASUDIL | 3 | PRKD1 |
| ALVOCIDIB | 3 | PRKD1 |
| FORETINIB | 2 | NEK9 |
| REBASTINIB | 2 | NEK9 |
| DANUSERTIB | 2 | NEK9 |
| R-406 | 2 | NEK9 |
| ENMD-2076 | 2 | NEK9 |
| AT-9283 | 2 | NEK9, PRKD1 |
| MILCICLIB | 2 | NEK9 |
| BMS-754807 | 2 | NEK9 |
| MOLIBRESIB | 2 | MYH9 |
| PHORBOL MYRISTATE ACETATE | 2 | PRKD1 |
| EDELFOSINE | 2 | PRKD1 |
Bioactivity and enzyme data
Enzyme cohort genes (≥1 EC): 2.
Cohort genes with ChEMBL bioactivity (full, sorted by assay count)
| Symbol | Assays | Type breakdown |
|---|---|---|
| PRKD1 | 660 | Binding:650, Functional:10 |
| NEK9 | 254 | Binding:254 |
| NEK8 | 37 | Binding:37 |
| PKD1 | 27 | Binding:27 |
| MUC1 | 13 | Binding:13 |
| PKD2 | 12 | Binding:12 |
| MYH9 | 10 | Binding:10 |
Cohort enzymes (BRENDA EC)
| Symbol | EC numbers | Names |
|---|---|---|
| CFI | 3.4.21.45 | complement factor I |
| PRKD1 | 2.7.11.13 | protein kinase C |
Cohort genes with high screening signal
≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.
| Symbol | ChEMBL assays |
|---|---|
| NEK9 | 254 |
| PRKD1 | 660 |
Pharmacogenomics
Cohort genes with a PharmGKB record: 16; with CPIC/DPWG dosing guidelines: 0.
No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).
Chemical tractability of cohort targets
30 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.
| Compound | Max phase | Cohort target (bioactivity) |
|---|---|---|
| MOMELOTINIB | 4 | NEK9 |
| FEDRATINIB | 4 | NEK9 |
| DABRAFENIB | 4 | NEK9 |
| PACRITINIB | 4 | NEK9 |
| FOSTAMATINIB | 4 | NEK9 |
| CRIZOTINIB | 4 | NEK9, PRKD1 |
| INGENOL MEBUTATE | 4 | PRKD1 |
| MIDOSTAURIN | 4 | PRKD1 |
| TAMOXIFEN | 4 | PRKD1 |
| NERATINIB | 4 | PRKD1 |
| BRIGATINIB | 4 | PRKD1 |
| NINTEDANIB | 4 | PRKD1 |
| SUNITINIB | 4 | PRKD1 |
| GEFITINIB | 4 | PRKD1 |
| DOVITINIB | 3 | NEK9 |
| LESTAURTINIB | 3 | NEK9, PRKD1 |
| SURAMIN | 3 | PRKD1 |
| FASUDIL | 3 | PRKD1 |
| ALVOCIDIB | 3 | PRKD1 |
| FORETINIB | 2 | NEK9 |
| REBASTINIB | 2 | NEK9 |
| DANUSERTIB | 2 | NEK9 |
| R-406 | 2 | NEK9 |
| ENMD-2076 | 2 | NEK9 |
| AT-9283 | 2 | NEK9, PRKD1 |
| MILCICLIB | 2 | NEK9 |
| BMS-754807 | 2 | NEK9 |
| MOLIBRESIB | 2 | MYH9 |
| PHORBOL MYRISTATE ACETATE | 2 | PRKD1 |
| EDELFOSINE | 2 | PRKD1 |
Druggability pyramid
Cohort genes binned by druggability tier (high → low):
| Tier | Definition | Genes | Symbols |
|---|---|---|---|
| A | Approved (phase 4 drug) | 2 | NEK9, PRKD1 |
| B | Phased (≥1) drug, not yet approved | 1 | MYH9 |
| C | Druggable family + PDB, no drug | 2 | CFI, PKD1 |
| D | Druggable family + AlphaFold only, no drug | 2 | NEK8, PKHD1 |
| E | Difficult family or no structure, no drug | 9 | TSC1, UMOD, INVS, COL4A1, OFD1, TMEM67, FAN1, MUC1, PKD2 |
Undrugged target profiles
13 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).
| Symbol | ChEMBL assays | Drugged partners (top 3) |
|---|---|---|
| PKD1 | 27 | PRKD1 |
| TSC1 | 0 | — |
| UMOD | 0 | — |
| NEK8 | 37 | — |
| INVS | 0 | — |
| COL4A1 | 0 | — |
| OFD1 | 0 | — |
| TMEM67 | 0 | — |
| FAN1 | 0 | — |
| CFI | 0 | — |
| MUC1 | 13 | — |
| PKD2 | 12 | — |
| PKHD1 | 0 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 755.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 402 |
| PHASE1 | 105 |
| PHASE4 | 90 |
| PHASE3 | 75 |
| PHASE2 | 54 |
| PHASE1/PHASE2 | 14 |
| PHASE2/PHASE3 | 10 |
| EARLY_PHASE1 | 5 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT04447911 | PHASE4 | RECRUITING | Effects of the SGLT2 Inhibitor Empagliflozin in Patients With Euvolemic and Hypervolemic Hyponatremia |
| NCT05242315 | PHASE4 | RECRUITING | Extended-Release Tacrolimus Following Liver Transplantation |
| NCT05788276 | PHASE4 | RECRUITING | Can Dapagliflozin Preserve Structure and Function in Transplanted Kidneys? |
| NCT06054035 | PHASE4 | RECRUITING | SGLT2 Inhibition in Addition to Lifestyle Intervention and Risk for Complications in Subtypes of Patients With Prediabetes |
| NCT07160452 | PHASE4 | NOT_YET_RECRUITING | Levocarnitine for Reducing ESA Requirements in Hemodialysis Patients With Renal Anemia |
| NCT07345689 | PHASE4 | NOT_YET_RECRUITING | A Study of the Pharmacokinetics and Safety of Anaprazole Sodium in Special Populations |
| NCT00123331 | PHASE4 | COMPLETED | Rapamycin Use in Calcineurin Inhibitor (CNI)-Free Immunosuppression for Stabilization/Improvement of Renal Function After Heart Transplantation |
| NCT00123461 | PHASE4 | COMPLETED | Study of Safety and Efficacy of Doxercalciferol in Patients With Chronic Kidney Disease, Stage 3 or 4, and Secondary Hyperparathyroidism |
| NCT00144118 | PHASE4 | TERMINATED | The Effect of Isoflurane or Sevoflurane on Kidney Function |
| NCT00184769 | PHASE4 | COMPLETED | Growth Hormone Treatment in Infants Aged 1 to 2 Years With Chronic Renal Insufficiency (CRI) and Growth Retardation. |
| NCT00186329 | PHASE4 | COMPLETED | BNP for Cardio-Renal Decompensation Syndrome (BNP-CARDS) |
| NCT00194883 | PHASE4 | SUSPENDED | Effect of Cytokines on Growth of Children With Chronic Kidney Failure |
| NCT00195429 | PHASE4 | COMPLETED | A Study Comparing the Withdrawal of Steroids or Tacrolimus in Kidney Transplant Recipients |
| NCT00195468 | PHASE4 | COMPLETED | Study Comparing Cyclosporine Dose Reduction vs. Cyclosporine Elimination in Kidney Transplant Recipients Taking Sirolimus |
| NCT00195481 | PHASE4 | COMPLETED | Study Evaluating Sirolimus in Kidney Transplant Recipients in India |
| NCT00209417 | PHASE4 | TERMINATED | Renal Effects of Two Iodinated Contrast Media in Patients at Risk Undergoing Computed Tomography |
| NCT00246129 | PHASE4 | COMPLETED | CamTac Trial:Campath-Tacrolimus vs IL2R MoAb/Tacrolimus/MMF in Renal Transplantation |
| NCT00247325 | PHASE4 | COMPLETED | RECOVER:Comparison of Renal Toxicity Between Visipaque(Iodixanol)and Hexabrix(Ioxaglate)in Renal Insufficiency Undergoing Coronary Angiography |
| NCT00254709 | PHASE4 | COMPLETED | Study Evaluating Two Different Sirolimus-based Immunosuppressive Regimens in Elderly Kidney Transplant Recipients |
| NCT00259441 | PHASE4 | COMPLETED | PROMISS: Simvastatin Prevents the Contrast Induced Acute Renal Failure in Patients With Renal Insufficiency Undergoing Coronary Angiography |
| NCT00261820 | PHASE4 | COMPLETED | Study Comparing Two Immunosuppressive Regimens in De Novo Renal Allograft Recipients |
| NCT00266123 | PHASE4 | COMPLETED | Study Comparing Two Sirolimus Regimens vs. Tacrolimus and Mycophenolate Mofetil Regimen in Kidney Transplant Recipients |
| NCT00282217 | PHASE4 | COMPLETED | Study Evaluating Sirolimus in the Treatment of Kidney Transplant |
| NCT00294866 | PHASE4 | COMPLETED | Effect of Paricalcitol on Markers of Inflammation in Hemodialysis Patients |
| NCT00295555 | PHASE4 | COMPLETED | Doxazosin Effects on ABPM in Hypertensive Patients With Diabetic Nephropathy |
| NCT00356954 | PHASE4 | COMPLETED | NASPI: N-Acetylcysteine vs. Ascorbic Acid for Prevention of Contrast Induced Nephropathy in Renal Insufficiency Undergoing Coronary Catheterization |
| NCT00368901 | PHASE4 | COMPLETED | STAAR-2 Clinical Study |
| NCT00369382 | PHASE4 | COMPLETED | Study Of The Safety And Efficacy Of Conversion From A CNI To Sirolimus In Renally-Impaired Heart Transplant Recipients |
| NCT00369733 | PHASE4 | COMPLETED | STAAR-3 Clinical Study |
| NCT00369772 | PHASE4 | COMPLETED | STAAR-1 Clinical Study |
| NCT00396435 | PHASE4 | COMPLETED | Correction of Anaemia and Progression of Renal Failure on Transplanted Patients |
| NCT00412802 | PHASE4 | COMPLETED | Adaptation Dose of Enoxaparin in Moderate Renal Failure Patients With Acute Coronary Syndrome |
| NCT00483275 | PHASE4 | WITHDRAWN | Fall Prevention by Alfacalcidol and Training |
| NCT00492518 | PHASE4 | COMPLETED | Acetylcysteine, Theophylline, and a Combination of Both in the Prophylaxis of Contrast-Induced Nephropathy |
| NCT00495365 | PHASE4 | TERMINATED | A Dose Conversion Study of Epoetin Alfa in Subjects With the Anemia of Chronic Kidney Disease. |
| NCT00527059 | PHASE4 | UNKNOWN | Renal Effects of Levosimendan in Patients Admitted With Acute Decompensated Heart Failure |
| NCT00566033 | PHASE4 | COMPLETED | Multiple Intervention and AUdit in Renal Diseases to Optimize Care |
| NCT00584350 | PHASE4 | UNKNOWN | Prevention of Contrast Nephropathy During Diagnostic Coronary Angiogram or PCI With Hydratation Based on LEVDP |
| NCT00613964 | PHASE4 | TERMINATED | The Effects of Carperitide on Short and Long-term Prognosis in Patients With Both Cardiac and Renal Failure |
| NCT00650845 | PHASE4 | COMPLETED | Renal Safety Evaluation After Dotarem®-Enhanced MRI |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| SIROLIMUS | 4 | 10 |
| FONDAPARINUX | 4 | 7 |
| CANAGLIFLOZIN ANHYDROUS | 4 | 6 |
| CYCLOSPORINE | 4 | 6 |
| TACROLIMUS ANHYDROUS | 4 | 6 |
| ALBUMIN HUMAN | 4 | 4 |
| FERRIC CITRATE | 4 | 4 |
| IOPAMIDOL | 4 | 4 |
| SEVELAMER | 4 | 4 |
| ACETYLCYSTEINE | 4 | 3 |
| DARBEPOETIN ALFA | 4 | 3 |
| IOHEXOL | 4 | 3 |
| MYCOPHENOLATE MOFETIL | 4 | 3 |
| NESIRITIDE | 4 | 3 |
| SODIUM BICARBONATE | 4 | 3 |
| SOMATROPIN | 4 | 3 |
| ALFACALCIDOL | 4 | 2 |
| CALCIUM ACETATE | 4 | 2 |
| EMPAGLIFLOZIN | 4 | 2 |
| EPOETIN ALFA | 4 | 2 |
| EVEROLIMUS | 4 | 2 |
| FUROSEMIDE | 4 | 2 |
| GLECAPREVIR | 4 | 2 |
| LEVOCARNITINE | 4 | 2 |
| MEPERIDINE | 4 | 2 |
| MIDODRINE | 4 | 2 |
| PARICALCITOL | 4 | 2 |
| PIBRENTASVIR | 4 | 2 |
| PIRFENIDONE | 4 | 2 |
| PREDNISOLONE | 4 | 2 |
Related Atlas pages
- Cohort genes: TSC1, UMOD, NEK8, INVS, NEK9, COL4A1, OFD1, TMEM67, FAN1, CFI, MUC1, MYH9, PKD1, PKD2, PKHD1, PRKD1
- Drugs: Sirolimus, Fondaparinux, Canagliflozin, Cyclosporine, Tacrolimus, Albumin Human, Ferric, Iopamidol, Sevelamer, Acetylcysteine, Darbepoetin Alfa, Iohexol, Mycophenolate Mofetil, Nesiritide, Sodium Bicarbonate, Somatropin, Alfacalcidol, Calcium Acetate, Empagliflozin, Epoetin Alfa, Everolimus, Furosemide, Glecaprevir, Levocarnitine, Meperidine, Midodrine, Paricalcitol, Pibrentasvir, Pirfenidone, Prednisolone