Glomerulonephritis
diseaseOn this page
Also known as bright's diseaseglomerular nephritisglomerulonephritis (disease)nephritis of renal glomerulusrenal glomerulus nephritis
Summary
Glomerulonephritis (MONDO:0002462) is a disease (an umbrella term covering 20 Mondo subtypes) with 7 cohort genes (54 GWAS associations across 20 studies) and 47 clinical trials. Top therapeutic interventions include losartan, potassium citrate anhydrous, and basiliximab.
At a glance
- Umbrella term: 20 Mondo subtypes
- Cohort genes: 7
- GWAS associations: 54
- ClinVar variants: 11
- Clinical trials: 47
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | glomerulonephritis |
| Mondo ID | MONDO:0002462 |
| MeSH | D005921 |
| DOID | DOID:2921 |
| NCIT | C26784 |
| SNOMED CT | 36171008 |
| UMLS | C0017658 |
| MedGen | 6616 |
| GARD | 0006516 |
| Anatomy (UBERON) | UBERON:0000074 |
| Is cancer (heuristic) | no |
Also known as: bright’s disease · glomerular nephritis · glomerulonephritis · glomerulonephritis (disease) · nephritis of renal glomerulus · renal glomerulus nephritis
Data availability: 11 ClinVar variants · 54 GWAS associations (20 studies) · 1 HPO phenotype.
Disease family
An umbrella term covering 20 Mondo subtypes.
Classification path: disease › human disease › disease by body system or component › urinary system disorder › kidney disorder › nephritis › glomerulonephritis
Related subtypes (3): interstitial nephritis, hereditary nephritis, pyelitis
Subtypes (20): acute poststreptococcal glomerulonephritis, membranoproliferative glomerulonephritis, exudative glomerulonephritis, proliferative glomerulonephritis, focal embolic glomerulonephritis, anti-basement membrane glomerulonephritis, diffuse glomerulonephritis, subacute glomerulonephritis, mesangial proliferative glomerulonephritis, immune-complex glomerulonephritis, IgA glomerulonephritis, membranous glomerulonephritis, lupus nephritis, minimal change disease, granulomatosis with polyangiitis, rapidly progressive glomerulonephritis, primary membranoproliferative glomerulonephritis, Pauci-immune glomerulonephritis, immunotactoid glomerulopathy, autoimmune glomerulonephritis
Genetics & variants
GWAS landscape
54 GWAS associations across 20 studies. Top hits map to 27 distinct genes (as reported by GWAS).
Top associations by p-value
| rsID | p-value | Gene | Risk allele | Odds ratio |
|---|---|---|---|---|
| rs73885319 | 3e-17 | APOL1 | A | 0.62 |
| chr22:36655513 | 3e-15 | C | 0.64 | |
| rs9272445 | 2e-14 | HLA-DQA1 | C | 0.77 |
| rs143018690 | 1e-13 | ACAP2 | C | 3.29 |
| rs9267092 | 1e-13 | LINC01149 | G | 0.57 |
| rs568764245 | 3e-13 | NKX2-3 - SLC25A28 | G | 3.08 |
| rs185537078 | 4e-13 | MIR3201 - TAFA5 | G | 3.15 |
| rs529217596 | 5e-13 | PEX10 | G | 3.13 |
| rs181546322 | 8e-13 | EPHB3 - MAGEF1 | A | 2.35 |
| rs534424363 | 2e-12 | HNRNPA1P69 - LINC03056 | G | 4.1 |
| rs546099707 | 2e-12 | KLF13 | G | 3.58 |
| rs551919440 | 2e-12 | GPCPD1 - SHLD1 | C | 3.98 |
| rs555304890 | 2e-12 | DUSP23 - FCRL6 | T | 3.72 |
| rs565615885 | 2e-12 | OTOL1 - TOMM22P6 | C | 4.27 |
| rs572573445 | 2e-12 | TPCN2 | G | 3.46 |
| rs116915466 | 3e-12 | CDK14 | C | 3.76 |
| rs192056986 | 3e-12 | LINC02947 - LINC02599 | C | 4.47 |
| rs191912781 | 4e-12 | CHD2 | C | 4.11 |
| rs115824929 | 4e-12 | NRXN1 | A | 2.69 |
| rs189830598 | 5e-12 | RPL6P32 - RNA5SP199 | T | 3.05 |
| rs180843162 | 6e-12 | ADGRL2 | G | 4.12 |
| rs574385462 | 7e-12 | PHYKPL | G | 3.87 |
| rs557661665 | 7e-12 | DNAJB6 - PTPRN2 | A | 4.26 |
| rs191750751 | 9e-12 | COL6A6 | C | 2.93 |
| rs183343848 | 9e-12 | LINC03122 | T | 3 |
| rs114064224 | 1e-11 | RPH3AL | T | 1.06 |
| rs570978087 | 1e-11 | TMEM132E - CCT6B | A | 3.09 |
| rs138496035 | 1e-11 | UCHL1 - Y_RNA | C | 2.32 |
| rs183510019 | 1e-11 | PRKN | T | 4.08 |
| rs2189547 | 1e-11 | NPM1P11 - THSD7A | A | 2.6 |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST90651774 | Liu TY | 2025 | 2,315 | 202,534 | Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population. |
| GCST90652159 | Liu TY | 2025 | 1,927 | 202,534 | Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population. |
| GCST90478509 | Verma A | 2024 | 1,216 | 449,020 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90436407 | Zhou W | 2018 | 1,033 | 397,602 | Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies. |
| GCST90436410 | Zhou W | 2018 | 845 | 397,602 | Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies. |
| GCST90476113 | Verma A | 2024 | 775 | 120,581 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90480367 | Verma A | 2024 | 775 | 120,581 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90018820 | Sakaue S | 2021 | 566 | 475,255 | A cross-population atlas of genetic associations for 220 human phenotypes. |
| GCST90478510 | Verma A | 2024 | 556 | 450,523 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90726807 | Kim HI | 2026 | 545 | 43,481 | Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosity. |
Variant details and genetic-evidence tiers
Tier distribution (top 50 variants)
| Tier | Variants |
|---|---|
| Tier 1: coding | 2 |
| Tier 2: splice/UTR | 0 |
| Tier 3: regulatory | 1 |
| Tier 4: intronic/intergenic | 47 |
MAF distribution
| Bucket | Variants |
|---|---|
| common (>=0.05) | 6 |
| low_freq (0.01-0.05) | 1 |
| rare (<0.01) | 43 |
| unknown | 0 |
Functional consequences
| Consequence | Count |
|---|---|
| intron_variant | 29 |
| intergenic_variant | 15 |
| missense_variant | 2 |
| non_coding_transcript_exon_variant | 2 |
| unknown | 1 |
| regulatory_region_variant | 1 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| rs73885319 | 22 | 36265860 | A>G | 0.048 | missense_variant | APOL1 | 3e-17 | Tier 1: coding |
| chr22:36655513 | 0.425 | 3e-15 | Tier 4: intronic/intergenic | |||||
| rs9272445 | 6 | 32637643 | C>A,T | 0.076 | intron_variant | HLA-DQA1 | 2e-14 | Tier 4: intronic/intergenic |
| rs143018690 | 3 | 195291722 | C>A,T | 0 | missense_variant | ACAP2 | 1e-13 | Tier 1: coding |
| rs9267092 | 6 | 31446464 | G>T | 0.091 | non_coding_transcript_exon_variant | LINC01149 | 1e-13 | Tier 4: intronic/intergenic |
| rs568764245 | 10 | 99608580 | G>A | 0.001 | intron_variant | NKX2-3 - SLC25A28 | 3e-13 | Tier 4: intronic/intergenic |
| rs185537078 | 22 | 48306537 | G>A | 0 | intergenic_variant | MIR3201 - TAFA5 | 4e-13 | Tier 4: intronic/intergenic |
| rs529217596 | 1 | 2409902 | G>A | 0.001 | intron_variant | PEX10 | 5e-13 | Tier 4: intronic/intergenic |
| rs181546322 | 3 | 184595806 | A>G | 0.001 | intron_variant | EPHB3 - MAGEF1 | 8e-13 | Tier 4: intronic/intergenic |
| rs534424363 | 12 | 63273718 | G>A | 0 | intergenic_variant | HNRNPA1P69 - LINC03056 | 2e-12 | Tier 4: intronic/intergenic |
| rs546099707 | 15 | 31367861 | G>A | 0 | intron_variant | KLF13 | 2e-12 | Tier 4: intronic/intergenic |
| rs551919440 | 20 | 5666226 | C>T | 0 | intergenic_variant | GPCPD1 - SHLD1 | 2e-12 | Tier 4: intronic/intergenic |
| rs555304890 | 1 | 159782750 | T>C | 0.001 | intergenic_variant | DUSP23 - FCRL6 | 2e-12 | Tier 4: intronic/intergenic |
| rs565615885 | 3 | 162405608 | C>A,T | 0 | intergenic_variant | OTOL1 - TOMM22P6 | 2e-12 | Tier 4: intronic/intergenic |
| rs572573445 | 11 | 69064069 | G>A,T | 0 | intron_variant | TPCN2 | 2e-12 | Tier 4: intronic/intergenic |
| rs116915466 | 7 | 91137316 | C>G | 0 | intron_variant | CDK14 | 3e-12 | Tier 4: intronic/intergenic |
| rs192056986 | 8 | 48524020 | C>T | 0.001 | intergenic_variant | LINC02947 - LINC02599 | 3e-12 | Tier 4: intronic/intergenic |
| rs191912781 | 15 | 92973122 | C>A,G,T | 0 | intron_variant | CHD2 | 4e-12 | Tier 4: intronic/intergenic |
| rs115824929 | 2 | 50050221 | A>G | 0.001 | intron_variant | NRXN1 | 4e-12 | Tier 4: intronic/intergenic |
| rs189830598 | 5 | 155707465 | T>C | 0.001 | intergenic_variant | RPL6P32 - RNA5SP199 | 5e-12 | Tier 4: intronic/intergenic |
| rs180843162 | 1 | 81708213 | G>A | 0 | intron_variant | ADGRL2 | 6e-12 | Tier 4: intronic/intergenic |
| rs574385462 | 5 | 178214193 | G>A,C | 0 | intron_variant | PHYKPL | 7e-12 | Tier 4: intronic/intergenic |
| rs557661665 | 7 | 157454149 | A>C | 0 | intergenic_variant | DNAJB6 - PTPRN2 | 7e-12 | Tier 4: intronic/intergenic |
| rs191750751 | 3 | 130583918 | C>T | 0 | intron_variant | COL6A6 | 9e-12 | Tier 4: intronic/intergenic |
| rs183343848 | 5 | 61793288 | T>C | 0 | intron_variant | LINC03122 | 9e-12 | Tier 4: intronic/intergenic |
| rs114064224 | 17 | 263802 | T>C,G | 0.006 | intron_variant | RPH3AL | 1e-11 | Tier 4: intronic/intergenic |
| rs570978087 | 17 | 34651003 | A>G | 0.001 | intergenic_variant | TMEM132E - CCT6B | 1e-11 | Tier 4: intronic/intergenic |
| rs138496035 | 4 | 41301210 | C>T | 0.002 | intergenic_variant | UCHL1 - Y_RNA | 1e-11 | Tier 4: intronic/intergenic |
| rs183510019 | 6 | 162182975 | T>C | 0 | intron_variant | PRKN | 1e-11 | Tier 4: intronic/intergenic |
| rs2189547 | 7 | 11258923 | A>C,T | 0.001 | intron_variant | NPM1P11 - THSD7A | 1e-11 | Tier 4: intronic/intergenic |
ClinVar germline variants
11 retrieved; paginated sample, class counts are floors:
4 uncertain significance, 4 conflicting classifications of pathogenicity, 2 conflicting classifications of pathogenicity; risk factor, 1 pathogenic
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 550471 | NM_000092.5(COL4A4):c.2638del (p.Ala880fs) | COL4A4 | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 127198 | NM_003661.4(APOL1):c.1152T>G (p.Ile384Met) | APOL1 | Conflicting classifications of pathogenicity; risk factor | criteria provided, conflicting classifications |
| 277678 | NM_003661.4(APOL1):c.1024A>G (p.Ser342Gly) | APOL1 | Conflicting classifications of pathogenicity; risk factor | criteria provided, conflicting classifications |
| 930185 | NM_000092.5(COL4A4):c.854G>A (p.Gly285Glu) | COL4A4 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 930186 | NM_000092.5(COL4A4):c.788C>G (p.Pro263Arg) | COL4A4 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 930187 | NM_000092.5(COL4A4):c.1246C>G (p.Pro416Ala) | COL4A4 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 499790 | NM_002473.6(MYH9):c.5185G>T (p.Ala1729Ser) | MYH9 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 1210229 | NM_022489.4(INF2):c.2054T>C (p.Ile685Thr) | INF2 | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 930193 | NM_002292.4(LAMB2):c.4307G>A (p.Arg1436His) | LAMB2 | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 930197 | NM_004646.4(NPHS1):c.2344G>A (p.Glu782Lys) | NPHS1 | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 930200 | NM_016341.4(PLCE1):c.756G>T (p.Gln252His) | PLCE1 | Uncertain significance | criteria provided, single submitter |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 0 · Orphanet: 14 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0
Orphanet rare-disease linkage (cohort genes)
| Gene | Orphanet ID | Rare disease |
|---|---|---|
| PLCE1 | Orphanet:656 | Hereditary steroid-resistant nephrotic syndrome |
| COL4A4 | Orphanet:653722 | Digenic Alport syndrome |
| COL4A4 | Orphanet:88918 | Autosomal dominant Alport syndrome |
| COL4A4 | Orphanet:88919 | Autosomal recessive Alport syndrome |
| INF2 | Orphanet:656 | Hereditary steroid-resistant nephrotic syndrome |
| INF2 | Orphanet:93114 | Autosomal dominant intermediate Charcot-Marie-Tooth disease type E |
| APOL1 | Orphanet:656 | Hereditary steroid-resistant nephrotic syndrome |
| LAMB2 | Orphanet:2670 | Pierson syndrome |
| LAMB2 | Orphanet:98915 | Synaptic congenital myasthenic syndrome |
| MYH9 | Orphanet:182050 | MYH9-related syndromic thrombocytopenia |
| MYH9 | Orphanet:477742 | Nodular fasciitis |
| MYH9 | Orphanet:90635 | Rare autosomal dominant non-syndromic sensorineural deafness type DFNA |
| NPHS1 | Orphanet:656 | Hereditary steroid-resistant nephrotic syndrome |
| NPHS1 | Orphanet:839 | Congenital nephrotic syndrome, Finnish type |
Cohort genes → proteins
7 cohort genes, 7 distinct canonical proteins.
Evidence partition
| Subset | Genes |
|---|---|
| multi_evidence | 7 |
Cohort genes (full)
| Symbol | HGNC | Ensembl | UniProt | Name | Evidence |
|---|---|---|---|---|---|
| PLCE1 | HGNC:17175 | ENSG00000138193 | Q9P212 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 | clinvar |
| COL4A4 | HGNC:2206 | ENSG00000081052 | P53420 | Collagen alpha-4(IV) chain | clinvar |
| INF2 | HGNC:23791 | ENSG00000203485 | Q27J81 | Inverted formin-2 | clinvar |
| APOL1 | HGNC:618 | ENSG00000100342 | O14791 | Apolipoprotein L1 | clinvar |
| LAMB2 | HGNC:6487 | ENSG00000172037 | P55268 | Laminin subunit beta-2 | clinvar |
| MYH9 | HGNC:7579 | ENSG00000100345 | P35579 | Myosin-9 | clinvar |
| NPHS1 | HGNC:7908 | ENSG00000161270 | O60500 | Nephrin | clinvar |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| PLCE1 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 | The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. |
| COL4A4 | Collagen alpha-4(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. |
| INF2 | Inverted formin-2 | Severs actin filaments and accelerates their polymerization and depolymerization. |
| APOL1 | Apolipoprotein L1 | May play a role in lipid exchange and transport throughout the body. |
| LAMB2 | Laminin subunit beta-2 | Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. |
| MYH9 | Myosin-9 | Cellular myosin that appears to play a role in cytokinesis, cell shape, and specialized functions such as secretion and capping. |
| NPHS1 | Nephrin | Seems to play a role in the development or function of the kidney glomerular filtration barrier. |
Protein-family classification
Druggable: 2 · Difficult: 1 · Unknown: 4 · Druggable fraction: 0.29
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 |
|---|---|---|---|
| Antibody/Immunoglobulin | 1 | 4.2× | 0.609 |
| Scaffold/PPI | 1 | 2.5× | 0.609 |
| Enzyme (other) | 1 | 1.7× | 0.609 |
| Other/Unknown | 4 | 1.0× | 0.626 |
Per-gene assignment
| Symbol | Family | Druggable? | EC | InterPro (top 3) |
|---|---|---|---|---|
| PLCE1 | Enzyme (other) | yes | 3.1.4.11 | C2_dom, RA_dom, PLipase_C_PInositol-sp_X_dom |
| COL4A4 | Other/Unknown | no | Collagen_IV_NC, Collagen, CTDL_fold | |
| INF2 | Other/Unknown | no | WH2_dom, FH3_dom, GTPase-bd | |
| APOL1 | Other/Unknown | no | ApoL | |
| LAMB2 | Other/Unknown | no | EGF, LE_dom, Laminin_N | |
| MYH9 | Scaffold/PPI | no | IQ_motif_EF-hand-BS, Myosin_head_motor_dom-like, Myosin_tail | |
| NPHS1 | Antibody/Immunoglobulin | yes | Ig_sub2, Ig_sub, FN3_dom |
Expression context
Cohort genes with no expression data: 0.
7 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) | 7 |
| unknown | 0 |
Top tissues across cohort
| Tissue | Cohort genes |
|---|---|
| stromal cell of endometrium | 2 |
| metanephric glomerulus | 1 |
| renal glomerulus | 1 |
| ventricular zone | 1 |
| metanephros cortex | 1 |
| pigmented layer of retina | 1 |
| renal medulla | 1 |
| nerve | 1 |
| sural nerve | 1 |
| tibial nerve | 1 |
| gall bladder | 1 |
| liver | 1 |
| right lobe of liver | 1 |
| apex of heart | 1 |
| right lobe of thyroid gland | 1 |
| ascending aorta | 1 |
| thoracic aorta | 1 |
| body of pancreas | 1 |
| buccal mucosa cell | 1 |
| vena cava | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| PLCE1 | 271 | broad | marker | renal glomerulus, metanephric glomerulus, ventricular zone |
| COL4A4 | 187 | broad | marker | renal medulla, metanephros cortex, pigmented layer of retina |
| INF2 | 260 | ubiquitous | marker | sural nerve, nerve, tibial nerve |
| APOL1 | 252 | ubiquitous | marker | gall bladder, right lobe of liver, liver |
| LAMB2 | 268 | ubiquitous | marker | apex of heart, right lobe of thyroid gland, stromal cell of endometrium |
| MYH9 | 279 | ubiquitous | marker | stromal cell of endometrium, ascending aorta, thoracic aorta |
| NPHS1 | 147 | tissue_specific | marker | buccal mucosa cell, body of pancreas, vena cava |
Protein interactions among cohort
Intra-cohort edges: 12.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| MYH9 | 5,533 |
| INF2 | 2,070 |
| NPHS1 | 1,690 |
| PLCE1 | 1,560 |
| LAMB2 | 1,548 |
| COL4A4 | 1,243 |
| APOL1 | 1,216 |
Intra-cohort edges
| A | B | Sources |
|---|---|---|
| APOL1 | INF2 | string_interaction |
| APOL1 | MYH9 | string_interaction |
| APOL1 | NPHS1 | string_interaction |
| APOL1 | PLCE1 | string_interaction |
| COL4A4 | INF2 | string_interaction |
| COL4A4 | MYH9 | string_interaction |
| COL4A4 | NPHS1 | string_interaction |
| INF2 | MYH9 | intact, string_interaction |
| INF2 | NPHS1 | string_interaction |
| INF2 | PLCE1 | string_interaction |
| MYH9 | NPHS1 | string_interaction |
| NPHS1 | PLCE1 | string_interaction |
Structural data
PDB: 6 · AlphaFold-only: 1 · No structure: 0
Cohort genes with PDB structures (top 30)
| Symbol | UniProt | PDB entries |
|---|---|---|
| INF2 | Q27J81 | 10 |
| MYH9 | P35579 | 8 |
| APOL1 | O14791 | 5 |
| PLCE1 | Q9P212 | 3 |
| COL4A4 | P53420 | 2 |
| NPHS1 | O60500 | 1 |
AlphaFold-only cohort genes (top 30 by pLDDT)
| Symbol | UniProt | pLDDT |
|---|---|---|
| LAMB2 | P55268 | 75.94 |
Function
Pathway analysis
Distinct Reactome pathways touched by cohort: 69. Enrichment computed across 7 evidence-associated genes (6 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 6 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| Pathway | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| Attachment of bacteria to epithelial cells | 2 | 165.5× | 0.003 | COL4A4, LAMB2 |
| Laminin interactions | 2 | 126.9× | 0.003 | COL4A4, LAMB2 |
| Non-integrin membrane-ECM interactions | 2 | 51.4× | 0.011 | COL4A4, LAMB2 |
| ECM proteoglycans | 2 | 50.1× | 0.011 | COL4A4, LAMB2 |
| Post-translational protein phosphorylation | 2 | 33.4× | 0.020 | APOL1, LAMB2 |
| Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) | 2 | 28.8× | 0.022 | APOL1, LAMB2 |
| CD163 mediating an anti-inflammatory response | 1 | 190.3× | 0.042 | MYH9 |
| Scavenging of heme from plasma | 1 | 146.4× | 0.042 | APOL1 |
| Anchoring fibril formation | 1 | 126.9× | 0.042 | COL4A4 |
| Sema4D in semaphorin signaling | 1 | 112.0× | 0.042 | MYH9 |
| RHO GTPases activate CIT | 1 | 100.2× | 0.042 | MYH9 |
| RHO GTPases Activate ROCKs | 1 | 100.2× | 0.042 | MYH9 |
| MET promotes cell motility | 1 | 100.2× | 0.042 | LAMB2 |
| Fibronectin matrix formation | 1 | 95.2× | 0.042 | COL4A4 |
| Crosslinking of collagen fibrils | 1 | 95.2× | 0.042 | COL4A4 |
| Sema4D induced cell migration and growth-cone collapse | 1 | 95.2× | 0.042 | MYH9 |
| Binding and Uptake of Ligands by Scavenger Receptors | 1 | 90.6× | 0.042 | APOL1 |
| RHO GTPases activate PAKs | 1 | 90.6× | 0.042 | MYH9 |
| Vesicle-mediated transport | 2 | 11.6× | 0.042 | APOL1, MYH9 |
| Nephrin family interactions | 1 | 79.3× | 0.042 | NPHS1 |
| Synthesis of IP3 and IP4 in the cytosol | 1 | 70.5× | 0.042 | PLCE1 |
| Semaphorin interactions | 1 | 65.6× | 0.042 | MYH9 |
| Anti-inflammatory response favouring Leishmania parasite infection | 1 | 65.6× | 0.042 | MYH9 |
| Leishmania parasite growth and survival | 1 | 65.6× | 0.042 | MYH9 |
| EPHA-mediated growth cone collapse | 1 | 63.4× | 0.042 | MYH9 |
| MET activates PTK2 signaling | 1 | 63.4× | 0.042 | LAMB2 |
| Parasite infection | 1 | 57.7× | 0.042 | MYH9 |
| Leishmania phagocytosis | 1 | 57.7× | 0.042 | MYH9 |
| RHO GTPases activate PKNs | 1 | 52.9× | 0.042 | MYH9 |
| Signaling by MET | 1 | 52.9× | 0.042 | LAMB2 |
GO biological processes by enrichment
Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 7 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| GO term | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| glomerular basement membrane development | 2 | 437.7× | 6e-04 | COL4A4, NPHS1 |
| myoblast fusion | 2 | 172.0× | 0.002 | MYH9, NPHS1 |
| metanephric glomerular basement membrane development | 1 | 2407.4× | 0.007 | LAMB2 |
| uropod organization | 1 | 1203.7× | 0.007 | MYH9 |
| slit diaphragm assembly | 1 | 1203.7× | 0.007 | NPHS1 |
| cortical granule exocytosis | 1 | 1203.7× | 0.007 | MYH9 |
| metanephric podocyte development | 1 | 1203.7× | 0.007 | LAMB2 |
| negative regulation of actin filament severing | 1 | 1203.7× | 0.007 | MYH9 |
| positive regulation of protein processing in phagocytic vesicle | 1 | 1203.7× | 0.007 | MYH9 |
| cytokinetic process | 1 | 802.5× | 0.008 | MYH9 |
| axon extension involved in regeneration | 1 | 802.5× | 0.008 | LAMB2 |
| regulation of plasma membrane repair | 1 | 802.5× | 0.008 | MYH9 |
| establishment of meiotic spindle localization | 1 | 601.9× | 0.010 | MYH9 |
| cytoplasmic actin-based contraction involved in cell motility | 1 | 481.5× | 0.011 | MYH9 |
| regulation of basement membrane organization | 1 | 401.2× | 0.013 | LAMB2 |
| meiotic spindle organization | 1 | 343.9× | 0.014 | MYH9 |
| obsolete cytolysis by host of symbiont cells | 1 | 300.9× | 0.014 | APOL1 |
| regulation of mitochondrial fission | 1 | 300.9× | 0.014 | INF2 |
| establishment of T cell polarity | 1 | 267.5× | 0.014 | MYH9 |
| diacylglycerol biosynthetic process | 1 | 267.5× | 0.014 | PLCE1 |
| radial glial cell differentiation | 1 | 218.9× | 0.016 | LAMB2 |
| podocyte development | 1 | 218.9× | 0.016 | NPHS1 |
| blood vessel endothelial cell migration | 1 | 200.6× | 0.017 | MYH9 |
| glomerulus development | 1 | 185.2× | 0.017 | PLCE1 |
| positive regulation of integrin-mediated signaling pathway | 1 | 185.2× | 0.017 | LAMB2 |
| astrocyte development | 1 | 160.5× | 0.018 | LAMB2 |
| positive regulation of muscle cell differentiation | 1 | 160.5× | 0.018 | LAMB2 |
| Schwann cell development | 1 | 150.5× | 0.018 | LAMB2 |
| lipoprotein metabolic process | 1 | 133.8× | 0.020 | APOL1 |
| regulated exocytosis | 1 | 126.7× | 0.020 | MYH9 |
Therapeutics
Drugs indicated for this disease
3 approved, 3 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.
| Drug | Development status |
|---|---|
| Chlorothiazide | Approved (phase 4) |
| Chlorthalidone | Approved (phase 4) |
| Hydrochlorothiazide | Approved (phase 4) |
| Pentoxifylline | Phase 3 (in late-stage trials) |
| Prednisolone | Phase 3 (in late-stage trials) |
| Ramipril | Phase 3 (in late-stage trials) |
Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Daratumumab, Dexamethasone, Felzartamab, Iptacopan, Lisinopril Anhydrous, Obinutuzumab, Olmesartan Medoxomil, Rituximab.
Drug target analysis
Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 1 · Undrugged: 6
Druggability breadth: 5 of 7 evidence-associated genes (71%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).
Top cohort targets by molecule count
| Symbol | Molecules | Max phase |
|---|---|---|
| MYH9 | 1 | 2 |
| PLCE1 | 0 | 0 |
| COL4A4 | 0 | 0 |
| INF2 | 0 | 0 |
| APOL1 | 0 | 0 |
| LAMB2 | 0 | 0 |
| NPHS1 | 0 | 0 |
Drugs targeting cohort genes (top 30)
| Molecule | Max phase | Targets in cohort |
|---|---|---|
| MOLIBRESIB | 2 | MYH9 |
Bioactivity and enzyme data
Enzyme cohort genes (≥1 EC): 1.
Cohort genes with ChEMBL bioactivity (full, sorted by assay count)
| Symbol | Assays | Type breakdown |
|---|---|---|
| MYH9 | 10 | Binding:10 |
| APOL1 | 4 | Binding:4 |
| INF2 | 1 | Binding:1 |
Cohort enzymes (BRENDA EC)
| Symbol | EC numbers | Names |
|---|---|---|
| PLCE1 | 3.1.4.11 | phosphoinositide phospholipase C |
Pharmacogenomics
Cohort genes with a PharmGKB record: 7; with CPIC/DPWG dosing guidelines: 0.
No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).
Chemical tractability of cohort targets
1 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) |
|---|---|---|
| MOLIBRESIB | 2 | MYH9 |
Druggability pyramid
Cohort genes binned by druggability tier (high → low):
| Tier | Definition | Genes | Symbols |
|---|---|---|---|
| A | Approved (phase 4 drug) | 0 | |
| B | Phased (≥1) drug, not yet approved | 1 | MYH9 |
| C | Druggable family + PDB, no drug | 2 | PLCE1, NPHS1 |
| D | Druggable family + AlphaFold only, no drug | 0 | |
| E | Difficult family or no structure, no drug | 4 | COL4A4, INF2, APOL1, LAMB2 |
Undrugged target profiles
6 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).
| Symbol | ChEMBL assays | Drugged partners (top 3) |
|---|---|---|
| COL4A4 | 0 | MYH9 |
| APOL1 | 4 | MYH9 |
| PLCE1 | 0 | — |
| INF2 | 1 | — |
| LAMB2 | 0 | — |
| NPHS1 | 0 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 47.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 18 |
| PHASE2 | 12 |
| PHASE4 | 6 |
| PHASE3 | 4 |
| PHASE1 | 4 |
| PHASE1/PHASE2 | 2 |
| PHASE2/PHASE3 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT04662723 | PHASE4 | RECRUITING | Multicentre Clinical Study to Evaluate the Effect of Personalized Therapy on Patients With Immunoglobulin A Nephropathy. |
| NCT00426348 | PHASE4 | COMPLETED | A Study of the Antioxidant Probucol Combined With Valsartan in Patients With IgA Nephropathy |
| NCT00862693 | PHASE4 | UNKNOWN | Calcitriol in the Treatment of Immunoglobulin A Nephropathy |
| NCT02063100 | PHASE4 | UNKNOWN | Efficacy and Safety of Shenyankangfu Tablets for Primary Glomerulonephritis |
| NCT02523768 | PHASE4 | TERMINATED | Prevention in Recipients With Primary IgA Nephropathy of Recurrence After Kidney Transplantation: ATG-F Versus Basiliximab as Induction Immunosuppressive Treatment |
| NCT04349683 | PHASE4 | UNKNOWN | Efficacy and Safety of Jinshuibao for Patients With Chronic Kidney Disease Due to Glomerulonephritis |
| NCT06858319 | PHASE3 | RECRUITING | Open-label Extension Study of Zigakibart in Adults With IgA Nephropathy. |
| NCT00106561 | PHASE2/PHASE3 | COMPLETED | Using the Drug Spironolactone to Test If It Reduces Protein Leakage From the Kidney |
| NCT00354198 | PHASE3 | TERMINATED | Efficacy of Pentoxifylline on Rapidly Progressive Glomerulonephritis |
| NCT00437463 | PHASE3 | COMPLETED | Treatment of Immunoglobulin A (IgA) Nephropathy by Angiotensin-Converting Enzyme (ACE) Inhibitor |
| NCT05283057 | PHASE3 | COMPLETED | Empagliflozin in Patients With Glomerulonephritis |
| NCT04663204 | PHASE2 | ACTIVE_NOT_RECRUITING | A Study of the Safety and Activity of Sparsentan for the Treatment of Incident Patients With Immunoglobulin A Nephropathy |
| NCT05517980 | PHASE2 | NOT_YET_RECRUITING | Efficacy, Safety, Pharmacokinetics, and Pharmacodynamics of KP104 to Treat Glomerulonephritis |
| NCT06889948 | PHASE2 | RECRUITING | The Effect of Daratumumab in Patients with Monoclonal Gammopathy of Renal Significance (MGRS) in Finland |
| NCT07096986 | PHASE2 | NOT_YET_RECRUITING | Impact of Dapagliflozin for the Regulation of Immunological Activity in Membranous Nephropathy |
| NCT00001457 | PHASE2 | COMPLETED | Lamivudine for Chronic Hepatitis B |
| NCT00004990 | PHASE2 | COMPLETED | Once-A-Month Steroid Treatment for Patients With Focal Segmental Glomerulosclerosis |
| NCT00914524 | PHASE2 | COMPLETED | Study of Olmesartan Medoxomil (CS-866) in Patients With Chronic Glomerulonephritis or Diabetic Nephropathy |
| NCT01093157 | PHASE1/PHASE2 | COMPLETED | A Dose Escalation Study of Long-acting ACTH Gel in Membranous Nephropathy |
| NCT03832114 | PHASE2 | COMPLETED | Study on Efficacy and Safety of LNP023 in C3 Glomerulopathy Patients Transplanted and Not Transplanted |
| NCT04387448 | PHASE2 | TERMINATED | A Study of TRPC5 Channel Inhibitor in Patients With Diabetic Nephropathy, Focal Segmental Glomerulosclerosis, and Treatment-Resistant Minimal Change Disease |
| NCT04733040 | PHASE2 | COMPLETED | Efficacy, Safety and PK/PD of MOR202 in Anti-PLA2R+ Membranous Nephropathy (aMN) (NewPLACE) |
| NCT04846010 | PHASE1/PHASE2 | UNKNOWN | Recovering Damaged Cells for Sequelae Caused by COVID-19, SARS-CoV-2 |
| NCT04950114 | PHASE2 | TERMINATED | An Open-Label, Long-term Study of GFB-887 in Patients With Glomerular Kidney Diseases |
| NCT06835322 | PHASE2 | COMPLETED | Effect of Finerenone in Patients With Non-diabetic Glomerulonephritis |
| NCT00001676 | PHASE1 | COMPLETED | Cyclophosphamide and Fludarabine to Treat Lupus Nephritis |
| NCT00345137 | PHASE1 | COMPLETED | Effects of Systemic NO-Inhibition on Renal Hemodynamics in Patiens With Polycystic Kidney Disease and Chronic Glomerulonephritis |
| NCT05174221 | PHASE1 | COMPLETED | A Study of Mezagitamab in Adults With Primary Immunoglobulin A Nephropathy Receiving Stable Background Therapy |
| NCT05505955 | PHASE1 | COMPLETED | Study of HRS-5965 in Healthy Subjects and Subjects With Renal Insufficiency |
| NCT05434325 | Not specified | RECRUITING | TESTING -ON Post-Trial ObservatioNal Cohort Study |
| NCT06792448 | Not specified | NOT_YET_RECRUITING | Biomarkers and Outcome Predictors of Pediatric Nephrotic Syndrome: A Genetic, Transcriptomic, and Secretome Multiomics Study |
| NCT07330362 | Not specified | RECRUITING | The Clinical Application of Artificial Intelligence Assisted Renal Biopsy Diagnosis System. |
| NCT07431931 | Not specified | NOT_YET_RECRUITING | Optimizing Referral Pathways for Patients With Hematuria and Moderate-Severe Proteinuria |
| NCT00154661 | Not specified | COMPLETED | Evaluation of Clinical Efficacy of Pentoxifylline on Patients With Glomerulonephritis |
| NCT00983034 | Not specified | COMPLETED | The Effects of Helicobacter Pylori Eradication on Proteinuria in Patients With Membranous Nephropathy |
| NCT02700516 | Not specified | COMPLETED | Recurrent Glomerulonephritis After Renal Transplantation |
| NCT03126201 | Not specified | COMPLETED | Predictors of Disease Progression in Primary Focal Segmental Glomerulosclerosis |
| NCT03460054 | Not specified | UNKNOWN | The Canadian Glomerulonephritis Registry and Translational Research Initiative |
| NCT03836144 | Not specified | COMPLETED | Effect of Urine Alkalinazation on Urinary Inflammatory Markers in Patients With Cystinuria |
| NCT04058951 | Not specified | UNKNOWN | Plant Versus Animal Dietary Protein and the Effect on Proteinuria |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| LOSARTAN | 4 | 2 |
| POTASSIUM CITRATE ANHYDROUS | 4 | 2 |
| BASILIXIMAB | 4 | 1 |
| CALCITRIOL | 4 | 1 |
| DAPAGLIFLOZIN PROPANEDIOL | 4 | 1 |
| FINERENONE | 4 | 1 |
| IPTACOPAN | 4 | 1 |
| IRBESARTAN | 4 | 1 |
| OLMESARTAN MEDOXOMIL | 4 | 1 |
| PENTOXIFYLLINE | 4 | 1 |
| PROBUCOL | 4 | 1 |
| RAMIPRIL | 4 | 1 |
| SPARSENTAN | 4 | 1 |
| SPIRONOLACTONE | 4 | 1 |
| VALSARTAN | 4 | 1 |
| FELZARTAMAB | 3 | 1 |
| TILARGININE | 3 | 1 |
| ZIGAKIBART | 3 | 1 |
| MEZAGITAMAB | 2 | 1 |
| CHEMBL115622 | 0 | 1 |
| CHEMBL1562223 | 0 | 1 |
| CHEMBL30458 | 0 | 1 |
Related Atlas pages
- Cohort genes: PLCE1, COL4A4, INF2, APOL1, LAMB2, MYH9, NPHS1
- Drugs: Losartan, Potassium, Basiliximab, Calcitriol, Dapagliflozin Propanediol, Finerenone, Iptacopan, Irbesartan, Olmesartan Medoxomil, Pentoxifylline, Probucol, Ramipril, Sparsentan, Spironolactone, Valsartan, Felzartamab, Tilarginine, Zigakibart