Kidney disorder

Summary

Kidney disorder (MONDO:0005240) is a disease (an umbrella term covering 57 Mondo subtypes) with 74 cohort genes (81 GWAS associations across 99 studies) and 572 clinical trials. The dominant Reactome pathway is Regulation of Complement cascade (10 cohort genes). Top therapeutic interventions include cinacalcet, losartan, and darbepoetin alfa.

At a glance

• Umbrella term: 57 Mondo subtypes
• Cohort genes: 74
• GWAS associations: 81
• ClinVar variants: 331
• Clinical trials: 572

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	kidney disorder
Mondo ID	MONDO:0005240
EFO	EFO:0003086
MeSH	D007674
DOID	DOID:557
NCIT	C3149
SNOMED CT	90708001
UMLS	C0022658
MedGen	9635
Anatomy (UBERON)	UBERON:0002113
Is cancer (heuristic)	no

Also known as: disease of kidney · disease or disorder of kidney · disorder of kidney · kidney disease · kidney disease or disorder · kidney disorder · renal disease · renal disorder

Data availability: 331 ClinVar variants · 81 GWAS associations (99 studies) · 2 GenCC gene-disease records.

Disease family

An umbrella term covering 57 Mondo subtypes.

Classification path: disease › human disease › disease by body system or component › urinary system disorder › kidney disorder

Related subtypes (19): bacteriuria, ureteral disorder, pyuria, urinary tract obstruction, urethral disorder, urinary bladder disorder, hyperglycinuria, hypercalciuria, absorptive, 2, hypercalciuria, absorptive, 1, megacystis-megaureter syndrome, postorgasmic illness syndrome, congenital urachal anomaly, urinary system neoplasm, urothelial hyperplasia, urolithiasis, urinary tract infection, meningitis-retention syndrome, paraneoplastic renal syndrome, idiopathic hypercalciuria

Subtypes (57): renal hypertension, kidney failure, 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

Genetics & variants

GWAS landscape

81 GWAS associations across 99 studies. Top hits map to 22 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
chr16:20381010	2e-45		A	0.13
rs36060036	2e-37	UMOD	C	0.11
rs10857147	3e-35	PRDM8 - FGF5	?
rs77924615	4e-30	PDILT	G	0.1
rs9275596	2e-26	MTCO3P1 - HLA-DQB3	?	1.59
rs11642015	3e-25	FTO	C	0.06
rs73885319	1e-22	APOL1	A	0.31
rs1421085	2e-19	FTO	T	0.06
rs60910145	3e-18	APOL1	T	0.12
chr9:5073770	8e-18		T	1.02
rs6464165	4e-16	PRKAG2	T	0.05
rs10224210	6e-16	PRKAG2	T	0.06
rs3925584	3e-15	MPPED2-AS1 - DCDC1	T	0.05
chr7:151717243	6e-15		C	0.06
rs117026326	3e-14	GTF2I-AS1, GTF2I	?
chr11:30727543	4e-14		C	0.05
chr11:65802675	2e-13		G	0.06
rs10846744	4e-13	SCARB1	G	0.05
rs569199361	1e-12	CDH12 - Y_RNA	G	4.53
rs9357155	2e-12	PSMB8	?	1.41
chr5:697277	2e-12		C	0.05
rs182226781	3e-12	STARD13	G	2.83
rs548186332	6e-12	ADAMTSL1	G	2.16
rs7903146	6e-12	TCF7L2	C	0.04
rs58384577	1e-11	APOL1	T	0.39
rs564490873	1e-11	PCOLCE2	T	2.34
rs138645155	1e-11	HPRT1P2 - RPL19P11	C	1.88
rs576354588	2e-11	PKD2	C	2.77
rs112341402	2e-11	ACAP2	T	3.06
rs192509901	2e-11	DYNLL1P3 - PAX7	C	2.53

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90475924	Verma A	2024	60,962	358,617	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90474170	UK Biobank Whole-Genome Sequencing Consortium	2025	44,816	413,624	Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90475923	Verma A	2024	22,462	90,187	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90475408	Verma A	2024	16,325	299,343	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90474187	UK Biobank Whole-Genome Sequencing Consortium	2025	11,171	447,269	Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90474192	UK Biobank Whole-Genome Sequencing Consortium	2025	10,569	447,871	Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90476676	Verma A	2024	7,696	307,972	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90476830	Verma A	2024	3,735	311,933	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90476112	Verma A	2024	2,669	116,910	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90038666	Donertas HM	2021	2,609	481,989	Common genetic associations between age-related diseases.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	2
Tier 2: splice/UTR	1
Tier 3: regulatory	0
Tier 4: intronic/intergenic	47

MAF distribution

Bucket	Variants
common (>=0.05)	18
low_freq (0.01-0.05)	2
rare (<0.01)	12
unknown	18

Functional consequences

Consequence	Count
intron_variant	22
unknown	18
intergenic_variant	6
missense_variant	2
3_prime_UTR_variant	1
non_coding_transcript_exon_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
chr16:20381010							2e-45	Tier 4: intronic/intergenic
rs36060036	16	20350628	C>T	0.163	intron_variant	UMOD	2e-37	Tier 4: intronic/intergenic
rs10857147	4	80259918	A>T	0.05	intergenic_variant	PRDM8 - FGF5	3e-35	Tier 4: intronic/intergenic
rs77924615	16	20381010	G>A	0.174	intron_variant	PDILT	4e-30	Tier 4: intronic/intergenic
rs9275596	6	32713854	C>A,G,T	0.27	intergenic_variant	MTCO3P1 - HLA-DQB3	2e-26	Tier 4: intronic/intergenic
rs11642015	16	53768582	C>G,T	0.402	intron_variant	FTO	3e-25	Tier 4: intronic/intergenic
rs73885319	22	36265860	A>G	0.045	missense_variant	APOL1	1e-22	Tier 1: coding
rs1421085	16	53767042	T>C	0.332	intron_variant	FTO	2e-19	Tier 4: intronic/intergenic
rs60910145	22	36265988	T>C,G	0.044	missense_variant	APOL1	3e-18	Tier 1: coding
chr9:5073770							8e-18	Tier 4: intronic/intergenic
rs6464165	7	151716038	T>C	0.282	intron_variant	PRKAG2	4e-16	Tier 4: intronic/intergenic
rs10224210	7	151716108	T>C	0.233	intron_variant	PRKAG2	6e-16	Tier 4: intronic/intergenic
rs3925584	11	30738788	T>A,C,G	0.454	intron_variant	MPPED2-AS1 - DCDC1	3e-15	Tier 4: intronic/intergenic
chr7:151717243							6e-15	Tier 4: intronic/intergenic
rs117026326	7	74711703	C>T	0.05	intron_variant	GTF2I-AS1, GTF2I	3e-14	Tier 4: intronic/intergenic
chr11:30727543							4e-14	Tier 4: intronic/intergenic
chr11:65802675							2e-13	Tier 4: intronic/intergenic
rs10846744	12	124827879	G>C,T	0.26	intron_variant	SCARB1	4e-13	Tier 4: intronic/intergenic
rs569199361	5	23194671	G>A	0	intergenic_variant	CDH12 - Y_RNA	1e-12	Tier 4: intronic/intergenic
rs9357155	6	32842071	G>A,C	0.13	intron_variant	PSMB8	2e-12	Tier 4: intronic/intergenic
chr5:697277							2e-12	Tier 4: intronic/intergenic
rs182226781	13	33172984	G>A	0.001	intron_variant	STARD13	3e-12	Tier 4: intronic/intergenic
rs548186332	9	18766778	G>A	0.001	intron_variant	ADAMTSL1	6e-12	Tier 4: intronic/intergenic
rs7903146	10	112998590	C>G,T	0.289	intron_variant	TCF7L2	6e-12	Tier 4: intronic/intergenic
rs58384577	22	36267167	T>C	0.22	3_prime_UTR_variant	APOL1	1e-11	Tier 2: splice/UTR
rs564490873	3	142826244	T>C,G	0.001	intron_variant	PCOLCE2	1e-11	Tier 4: intronic/intergenic
rs138645155	5	30778132	C>T	0.002	intergenic_variant	HPRT1P2 - RPL19P11	1e-11	Tier 4: intronic/intergenic
rs576354588	4	88050075	C>T	0.001	intron_variant	PKD2	2e-11	Tier 4: intronic/intergenic
rs112341402	3	195428186	T>C	0	intron_variant	ACAP2	2e-11	Tier 4: intronic/intergenic
rs192509901	1	18598524	C>T	0.001	intergenic_variant	DYNLL1P3 - PAX7	2e-11	Tier 4: intronic/intergenic

ClinVar germline variants

331 retrieved; paginated sample, class counts are floors:

115 benign/likely benign, 87 conflicting classifications of pathogenicity, 70 uncertain significance, 29 benign, 12 pathogenic/likely pathogenic, 12 likely benign, 5 likely pathogenic, 1 pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
497937	NM_025114.4(CEP290):c.6798G>A (p.Trp2266Ter)	CEP290	Pathogenic	criteria provided, multiple submitters, no conflicts
369964	NM_000091.5(COL4A3):c.2083G>A (p.Gly695Arg)	COL4A3	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
24757	NM_033380.3(COL4A5):c.4706G>A (p.Arg1569Gln)	COL4A5	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1051	NM_022489.4(INF2):c.653G>A (p.Arg218Gln)	INF2	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1053	NM_022489.4(INF2):c.641G>A (p.Arg214His)	INF2	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1712424	NM_002292.4(LAMB2):c.2369C>G (p.Ser790Ter)	LAMB2	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
867163	NM_015102.5(NPHP4):c.3644+1G>A	NPHP4	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
931168	NM_015102.5(NPHP4):c.12G>A (p.Trp4Ter)	NPHP4	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
552390	NM_004646.4(NPHS1):c.3549C>A (p.Tyr1183Ter)	NPHS1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
56438	NM_004646.4(NPHS1):c.1379G>A (p.Arg460Gln)	NPHS1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
18115	NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr)	SLC3A1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
3487	NM_024426.6(WT1):c.1399C>T (p.Arg467Trp)	WT1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
419332	NM_024426.6(WT1):c.1400G>A (p.Arg467Gln)	WT1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1712416	NM_000091.5(COL4A3):c.2656+1G>T	COL4A3	Likely pathogenic	criteria provided, multiple submitters, no conflicts
1712415	NM_000092.5(COL4A4):c.4440C>A (p.Cys1480Ter)	COL4A4	Likely pathogenic	criteria provided, multiple submitters, no conflicts
1712353	NM_033380.3(COL4A5):c.4184dup (p.Pro1396fs)	COL4A5	Likely pathogenic	criteria provided, single submitter
1712412	NM_022489.4(INF2):c.451T>C (p.Cys151Arg)	INF2	Likely pathogenic	criteria provided, single submitter
4074831	NM_000341.4(SLC3A1):c.761A>C (p.Asn254Thr)	SLC3A1	Likely pathogenic	criteria provided, single submitter
808577	NM_004924.6(ACTN4):c.1443-4G>A	ACTN4	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
330316	NM_000064.4(C3):c.1855G>A (p.Val619Met)	C3	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
777389	NM_000064.4(C3):c.2354+9G>A	C3	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
294969	NM_172351.3(CD46):c.574G>C (p.Asp192His)	CD46	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
791827	NM_172351.3(CD46):c.796G>A (p.Asp266Asn)	CD46	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
126262	NM_025114.4(CEP290):c.5237G>A (p.Arg1746Gln)	CEP290	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
136727	NM_025114.4(CEP290):c.1624-5T>C	CEP290	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
136729	NM_025114.4(CEP290):c.3465G>A (p.Leu1155=)	CEP290	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
136730	NM_025114.4(CEP290):c.5199A>G (p.Gln1733=)	CEP290	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
281250	NM_025114.4(CEP290):c.1092T>G (p.Ile364Met)	CEP290	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
310603	NM_025114.4(CEP290):c.4087C>T (p.Arg1363Trp)	CEP290	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
697728	NM_025114.4(CEP290):c.2638G>T (p.Ala880Ser)	CEP290	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 5 · Orphanet: 154 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 5

Dual-evidence genes (GWAS + Mendelian — highest-confidence targets)

Gene	HGNC	Evidence routes
CFHR4	CFHR4	GWAS
CFHR3	CFHR3	GWAS, Orphanet
CFHR5	CFHR5	GWAS, Orphanet
CFH	CFH	GWAS, Orphanet
CFHR1	CFHR1	GWAS, Orphanet

GenCC gene–disease validity (cohort genes)

the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.

Gene	Classification	Inheritance	Disease	Records
ANKFY1	Limited	Autosomal recessive	kidney disorder	2
SLC41A1	Limited	Autosomal recessive	kidney disorder	3

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
CFHR3	Orphanet:329931	C3 glomerulonephritis
CFHR5	Orphanet:329931	C3 glomerulonephritis
CFH	Orphanet:200421	Immunodeficiency with factor H anomaly
CFH	Orphanet:244242	HELLP syndrome
CFH	Orphanet:244275	De novo thrombotic microangiopathy after kidney transplantation
CFH	Orphanet:329903	Immunoglobulin-mediated membranoproliferative glomerulonephritis
CFH	Orphanet:544472	Atypical hemolytic uremic syndrome with complement gene abnormality
CFH	Orphanet:75376	Familial drusen
CFH	Orphanet:93571	Dense deposit disease
CFHR1	Orphanet:329931	C3 glomerulonephritis
CFHR1	Orphanet:93571	Dense deposit disease
ANKFY1	Orphanet:656	Hereditary steroid-resistant nephrotic syndrome
CFB	Orphanet:544472	Atypical hemolytic uremic syndrome with complement gene abnormality
SDCCAG8	Orphanet:110	Bardet-Biedl syndrome
SDCCAG8	Orphanet:3156	Senior-Loken syndrome
SLC3A1	Orphanet:163690	Hypotonia-cystinuria syndrome
SLC3A1	Orphanet:163693	2p21 microdeletion syndrome
SLC3A1	Orphanet:238523	Atypical hypotonia-cystinuria syndrome
SLC3A1	Orphanet:93612	Cystinuria type A
SMARCAL1	Orphanet:1830	Schimke immuno-osseous dysplasia
THBD	Orphanet:436169	Thrombomodulin-related bleeding disorder
THBD	Orphanet:544472	Atypical hemolytic uremic syndrome with complement gene abnormality
TRPC6	Orphanet:656	Hereditary steroid-resistant nephrotic syndrome
UMOD	Orphanet:88950	UMOD-related autosomal dominant tubulointerstitial kidney disease
WT1	Orphanet:220	Denys-Drash syndrome
WT1	Orphanet:242	46,XY complete gonadal dysgenesis
WT1	Orphanet:251510	46,XY partial gonadal dysgenesis
WT1	Orphanet:3097	Meacham syndrome
WT1	Orphanet:347	Frasier syndrome
WT1	Orphanet:654	Nephroblastoma
WT1	Orphanet:656	Hereditary steroid-resistant nephrotic syndrome
WT1	Orphanet:83469	Desmoplastic small round cell tumor
WT1	Orphanet:893	WAGR syndrome
C3	Orphanet:280133	Complement component 3 deficiency
C3	Orphanet:544472	Atypical hemolytic uremic syndrome with complement gene abnormality
NEK8	Orphanet:294415	Renal-hepatic-pancreatic dysplasia
NEK8	Orphanet:730	Autosomal dominant polycystic kidney disease
NEK8	Orphanet:93591	Infantile nephronophthisis
NPHS2	Orphanet:656	Hereditary steroid-resistant nephrotic syndrome
CD2AP	Orphanet:656	Hereditary steroid-resistant nephrotic syndrome
NLRP3	Orphanet:1451	CINCA syndrome
NLRP3	Orphanet:47045	Familial cold urticaria
NLRP3	Orphanet:575	Muckle-Wells syndrome
NLRP3	Orphanet:647815	Keratitis fugax hereditaria
ACTN4	Orphanet:656	Hereditary steroid-resistant nephrotic syndrome
PLCE1	Orphanet:656	Hereditary steroid-resistant nephrotic syndrome
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

Cohort genes → proteins

74 cohort genes, 71 distinct canonical proteins.

Evidence partition

Subset	Genes
gwas_only	14
gwas_and_clinvar	5
multi_evidence	55

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
CFHR4	HGNC:16979	ENSG00000134365	Q92496	Complement factor H-related protein 4	gwas,clinvar
CFHR3	HGNC:16980	ENSG00000116785	Q02985	Complement factor H-related protein 3	gwas,clinvar
CFHR5	HGNC:24668	ENSG00000134389	Q9BXR6	Complement factor H-related protein 5	gwas,clinvar
CFH	HGNC:4883	ENSG00000000971	P08603	Complement factor H	gwas,clinvar
CFHR1	HGNC:4888	ENSG00000244414	Q03591	Complement factor H-related protein 1	gwas,clinvar
SLC41A1	HGNC:19429	ENSG00000133065	Q8IVJ1	Solute carrier family 41 member 1	gencc
ANKFY1	HGNC:20763	ENSG00000185722	Q9P2R3	Ankyrin repeat and FYVE domain-containing protein 1	gencc
CFB	HGNC:1037	ENSG00000243649	P00751	Complement factor B	clinvar
SDCCAG8	HGNC:10671	ENSG00000054282	Q86SQ7	Serologically defined colon cancer antigen 8	clinvar
SLC3A1	HGNC:11025	ENSG00000138079	Q07837	Amino acid transporter heavy chain SLC3A1	clinvar
SMARCAL1	HGNC:11102	ENSG00000138375	Q9NZC9	SNF2 related chromatin remodeling annealing helicase 1	clinvar
THBD	HGNC:11784	ENSG00000178726	P07204	Thrombomodulin	clinvar
TRPC6	HGNC:12338	ENSG00000137672	Q9Y210	Short transient receptor potential channel 6	clinvar
UMOD	HGNC:12559	ENSG00000169344	P07911	Uromodulin	clinvar
WT1	HGNC:12796	ENSG00000184937	P19544	Wilms tumor protein	clinvar
C3	HGNC:1318	ENSG00000125730	P01024	Complement C3	clinvar
NEK8	HGNC:13387	ENSG00000160602	Q86SG6	Serine/threonine-protein kinase Nek8	clinvar
NPHS2	HGNC:13394	ENSG00000116218	Q9NP85	Podocin	clinvar
CD2AP	HGNC:14258	ENSG00000198087	Q9Y5K6	CD2-associated protein	clinvar
SLC25A21	HGNC:14411	ENSG00000183032	Q9BQT8	Mitochondrial 2-oxodicarboxylate carrier	clinvar
NLRP3	HGNC:16400	ENSG00000162711	Q96P20	NACHT, LRR and PYD domains-containing protein 3	clinvar
ACTN4	HGNC:166	ENSG00000130402	O43707	Alpha-actinin-4	clinvar
PLCE1	HGNC:17175	ENSG00000138193	Q9P212	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1	clinvar
INVS	HGNC:17870	ENSG00000119509	Q9Y283	Inversin	clinvar
NEK9	HGNC:18591	ENSG00000119638	Q8TD19	Serine/threonine-protein kinase Nek9	clinvar
COQ8B	HGNC:19041	ENSG00000123815	Q96D53	Atypical kinase COQ8B, mitochondrial	clinvar
NPHP4	HGNC:19104	ENSG00000131697	O75161	Nephrocystin-4	clinvar
SLC34A3	HGNC:20305	ENSG00000198569	Q8N130	Sodium-dependent phosphate transport protein 2C	clinvar
KCTD11	HGNC:21302	ENSG00000213859	Q693B1	BTB/POZ domain-containing protein KCTD11	clinvar
CCM2	HGNC:21708	ENSG00000136280	Q9BSQ5	Cerebral cavernous malformations 2 protein	gwas
COL4A3	HGNC:2204	ENSG00000169031	Q01955	Collagen alpha-3(IV) chain	clinvar
COL4A4	HGNC:2206	ENSG00000081052	P53420	Collagen alpha-4(IV) chain	clinvar
COL4A5	HGNC:2207	ENSG00000188153	P29400	Collagen alpha-5(IV) chain	clinvar
PDSS2	HGNC:23041	ENSG00000164494	Q86YH6	All trans-polyprenyl-diphosphate synthase PDSS2	clinvar
INF2	HGNC:23791	ENSG00000203485	Q27J81	Inverted formin-2	clinvar
DNAJB7	HGNC:24986	ENSG00000172404	Q7Z6W7	DnaJ homolog subfamily B member 7	clinvar
COQ2	HGNC:25223	ENSG00000173085	Q96H96	4-hydroxybenzoate polyprenyltransferase, mitochondrial	clinvar
AXDND1	HGNC:26564	ENSG00000162779	Q5T1B0	Axonemal dynein light chain domain-containing protein 1	clinvar
XPNPEP3	HGNC:28052	ENSG00000196236	Q9NQH7	Xaa-Pro aminopeptidase 3	clinvar
HORMAD2	HGNC:28383	ENSG00000176635	Q8N7B1	HORMA domain-containing protein 2	gwas
TMEM67	HGNC:28396	ENSG00000164953	Q5HYA8	Meckelin	clinvar
DGKE	HGNC:2852	ENSG00000153933	P52429	Diacylglycerol kinase epsilon	clinvar
CEP290	HGNC:29021	ENSG00000198707	O15078	Centrosomal protein of 290 kDa	clinvar
IFT140	HGNC:29077	ENSG00000187535	Q96RY7	Intraflagellar transport protein 140 homolog	clinvar
RPGRIP1L	HGNC:29168	ENSG00000103494	Q68CZ1	Protein fantom	clinvar
GLIS2	HGNC:29450	ENSG00000126603	Q9BZE0	Zinc finger protein GLIS2	clinvar
PREPL	HGNC:30228	ENSG00000138078	Q4J6C6	Prolyl endopeptidase-like	clinvar
MFF-DT	HGNC:41067	ENSG00000236432		MFF divergent transcript	clinvar
TAP1	HGNC:43	ENSG00000168394	Q03518	Antigen peptide transporter 1	gwas
TAP2	HGNC:44	ENSG00000204267	Q03519	Antigen peptide transporter 2	gwas

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
CFHR4	Complement factor H-related protein 4	Involved in complement regulation.
CFHR3	Complement factor H-related protein 3	Might be involved in complement regulation.
CFHR5	Complement factor H-related protein 5	Involved in complement regulation.
CFH	Complement factor H	Glycoprotein that plays an essential role in maintaining a well-balanced immune response by modulating complement activation.
CFHR1	Complement factor H-related protein 1	Involved in complement regulation.
SLC41A1	Solute carrier family 41 member 1	Na(+)/Mg(2+) ion exchanger that acts as a predominant Mg(2+) efflux system at the plasma membrane.
ANKFY1	Ankyrin repeat and FYVE domain-containing protein 1	Proposed effector of Rab5.
CFB	Complement factor B	Precursor of the catalytic component of the C3 and C5 convertase complexes of the alternative pathway of the complement system, a cascade of proteins that leads to phagocytosis and breakdown of pathogens and signaling that strengthens the…
SDCCAG8	Serologically defined colon cancer antigen 8	Plays a role in the establishment of cell polarity and epithelial lumen formation.
SLC3A1	Amino acid transporter heavy chain SLC3A1	Acts as a chaperone that facilitates biogenesis and trafficking of functional transporter heteromers to the plasma membrane.
SMARCAL1	SNF2 related chromatin remodeling annealing helicase 1	ATP-dependent annealing helicase that binds selectively to fork DNA relative to ssDNA or dsDNA and catalyzes the rewinding of the stably unwound DNA.
THBD	Thrombomodulin	Endothelial cell receptor that plays a critical role in regulating several physiological processes including hemostasis, coagulation, fibrinolysis, inflammation, and angiogenesis.
TRPC6	Short transient receptor potential channel 6	Forms a receptor-activated non-selective calcium permeant cation channel.
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…
WT1	Wilms tumor protein	Transcription factor that plays an important role in cellular development and cell survival.
C3	Complement C3	Precursor of non-enzymatic components of the classical, alternative, lectin and GZMK complement pathways, which consist in a cascade of proteins that leads to phagocytosis and breakdown of pathogens and signaling that strengthens the adapt…
NEK8	Serine/threonine-protein kinase Nek8	Required for renal tubular integrity.
NPHS2	Podocin	Plays a role in the regulation of glomerular permeability, acting probably as a linker between the plasma membrane and the cytoskeleton.
CD2AP	CD2-associated protein	Seems to act as an adapter protein between membrane proteins and the actin cytoskeleton.
SLC25A21	Mitochondrial 2-oxodicarboxylate carrier	Transports dicarboxylates across the inner membranes of mitochondria by a counter-exchange mechanism.
NLRP3	NACHT, LRR and PYD domains-containing protein 3	Sensor component of the NLRP3 inflammasome, which mediates inflammasome activation in response to defects in membrane integrity, leading to secretion of inflammatory cytokines IL1B and IL18 and pyroptosis.
ACTN4	Alpha-actinin-4	F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures.
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.
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.
COQ8B	Atypical kinase COQ8B, mitochondrial	Atypical kinase involved in the biosynthesis of coenzyme Q, also named ubiquinone, an essential lipid-soluble electron transporter for aerobic cellular respiration.
NPHP4	Nephrocystin-4	Involved in the organization of apical junctions; the function is proposed to implicate a NPHP1-4-8 module.
SLC34A3	Sodium-dependent phosphate transport protein 2C	Involved in actively transporting phosphate into cells via Na(+) cotransport in the renal brush border membrane.
KCTD11	BTB/POZ domain-containing protein KCTD11	Plays a role as a marker and a regulator of neuronal differentiation; Up-regulated by a variety of neurogenic signals, such as retinoic acid, epidermal growth factor/EGF and NGFB/nerve growth factor.
CCM2	Cerebral cavernous malformations 2 protein	Component of the CCM signaling pathway which is a crucial regulator of heart and vessel formation and integrity.
COL4A3	Collagen alpha-3(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.
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.
COL4A5	Collagen alpha-5(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.
PDSS2	All trans-polyprenyl-diphosphate synthase PDSS2	Heterotetrameric enzyme that catalyzes the condensation of farnesyl diphosphate (FPP), which acts as a primer, and isopentenyl diphosphate (IPP) to produce prenyl diphosphates of varying chain lengths and participates in the determination…
INF2	Inverted formin-2	Severs actin filaments and accelerates their polymerization and depolymerization.
DNAJB7	DnaJ homolog subfamily B member 7	Probably acts as a co-chaperone.
COQ2	4-hydroxybenzoate polyprenyltransferase, mitochondrial	Mediates the second step in the final reaction sequence of coenzyme Q (CoQ) biosynthesis.
AXDND1	Axonemal dynein light chain domain-containing protein 1	May be essential for spermiogenesis and male fertility probably by regulating the manchette dynamics, spermatid head shaping and sperm flagellum assembly.
XPNPEP3	Xaa-Pro aminopeptidase 3	Catalyzes the removal of a penultimate prolyl residue from the N-termini of peptides, such as Leu-Pro-Ala.
HORMAD2	HORMA domain-containing protein 2	Essential for synapsis surveillance during meiotic prophase via the recruitment of ATR activity.
TMEM67	Meckelin	Required for ciliary structure and function.
DGKE	Diacylglycerol kinase epsilon	Membrane-bound diacylglycerol kinase that converts diacylglycerol/DAG into phosphatidic acid/phosphatidate/PA and regulates the respective levels of these two bioactive lipids.
CEP290	Centrosomal protein of 290 kDa	Involved in early and late steps in cilia formation.
IFT140	Intraflagellar transport protein 140 homolog	Component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein-coupled receptors (GPCRs).
RPGRIP1L	Protein fantom	Negatively regulates signaling through the G-protein coupled thromboxane A2 receptor (TBXA2R).
GLIS2	Zinc finger protein GLIS2	Can act either as a transcriptional repressor or as a transcriptional activator, depending on the cell context.
PREPL	Prolyl endopeptidase-like	Serine peptidase whose precise substrate specificity remains unclear.
TAP1	Antigen peptide transporter 1	ABC transporter associated with antigen processing.
TAP2	Antigen peptide transporter 2	ABC transporter associated with antigen processing.
CFHR2	Complement factor H-related protein 2	Involved in complement regulation.

Protein-family classification

Druggable: 30 · Difficult: 10 · Unknown: 34 · Druggable fraction: 0.41

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
Complement	8	29.0×	3e-09
Protease	5	2.5×	0.190
Antibody/Immunoglobulin	6	2.4×	0.190
Transporter	2	2.1×	0.509
Kinase	4	1.5×	0.509
Scaffold/PPI	6	1.4×	0.509
Ion channel	1	1.5×	0.766
Phosphatase	1	1.1×	0.810
Other/Unknown	34	0.8×	0.984
Enzyme (other)	3	0.5×	0.984
Transcription factor	4	0.5×	0.984

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
CFHR4	Complement	yes		Sushi_SCR_CCP_dom, Sushi/SCR/CCP_sf, ComplSys_Reg/VirEntry_Med
CFHR3	Complement	yes		Sushi_SCR_CCP_dom, Sushi/SCR/CCP_sf, ComplSys_Reg/VirEntry_Med
CFHR5	Complement	yes		Sushi_SCR_CCP_dom, Sushi/SCR/CCP_sf, ComplSys_Reg/VirEntry_Med
CFH	Complement	yes		Sushi_SCR_CCP_dom, Sushi/SCR/CCP_sf, ComplSys_Reg/VirEntry_Med
CFHR1	Complement	yes		Sushi_SCR_CCP_dom, Sushi/SCR/CCP_sf, ComplSys_Reg/VirEntry_Med
SLC41A1	Other/Unknown	no		SLC41_membr_dom, SLC41_membr_dom_sf, SLC41A1-3
ANKFY1	Transcription factor	no		BTB/POZ_dom, Znf_FYVE, Ankyrin_rpt
CFB	Protease	yes	3.4.21.47	Sushi_SCR_CCP_dom, Trypsin_dom, Peptidase_S1A
SDCCAG8	Other/Unknown	no		SDCCAG8
SLC3A1	Other/Unknown	no		GH13_cat_dom, Glyco_hydro_b, GH_hydrolase_sf
SMARCAL1	Other/Unknown	no		SNF2_N, Helicase_C-like, HARP_dom
THBD	Other/Unknown	no		EGF-type_Asp/Asn_hydroxyl_site, EGF, C-type_lectin-like
TRPC6	Ion channel	yes		Ankyrin_rpt, TRPC_channel, TRPC6_channel
UMOD	Other/Unknown	no		EGF-type_Asp/Asn_hydroxyl_site, EGF, ZP_dom
WT1	Transcription factor	no		Wilms_tumour_N, Znf_C2H2_type, Znf_C2H2_sf
C3	Complement	yes	3.4.21.47	Anaphylatoxin/fibulin, Netrin_domain, Macroglobln_a2
NEK8	Kinase	yes		Reg_chr_condens, Prot_kinase_dom, Ser/Thr_kinase_AS
NPHS2	Other/Unknown	no		Band_7, Stomatin_HflK_fam, Band_7/stomatin-like_CS
CD2AP	Scaffold/PPI	no		SH3_domain, CD2AP_SH3_1, CD2AP_SH_2
SLC25A21	Other/Unknown	no		MCP, MCP_transmembrane, MCP_dom_sf
NLRP3	Other/Unknown	no		Leu-rich_rpt, DAPIN, NACHT_NTPase
ACTN4	Other/Unknown	no		Actinin_actin-bd_CS, CH_dom, Spectrin_repeat
PLCE1	Enzyme (other)	yes	3.1.4.11	C2_dom, RA_dom, PLipase_C_PInositol-sp_X_dom
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
COQ8B	Kinase	yes		ABC1_dom, Kinase-like_dom_sf, ADCK3_dom
NPHP4	Other/Unknown	no		NPHP4, Ig_NPHP4_4th, Ig_NPHP4_3rd
SLC34A3	Other/Unknown	no		Na/Pi_transpt
KCTD11	Other/Unknown	no		T1-type_BTB, SKP1/BTB/POZ_sf, KCTD11/21_C
CCM2	Other/Unknown	no		PTB/PI_dom, PH-like_dom_sf, Malcavernin
COL4A3	Other/Unknown	no		Collagen_IV_NC, Collagen, CTDL_fold
COL4A4	Other/Unknown	no		Collagen_IV_NC, Collagen, CTDL_fold
COL4A5	Other/Unknown	no		Collagen_IV_NC, Collagen, CTDL_fold
PDSS2	Enzyme (other)	yes	2.5.1.91	Polyprenyl_synt, Isoprenoid_synthase_dom_sf
INF2	Other/Unknown	no		WH2_dom, FH3_dom, GTPase-bd
DNAJB7	Other/Unknown	no		DnaJ_domain, DnaJ_domain_CS, J_dom_sf
COQ2	Enzyme (other)	yes	2.5.1.39	UbiA_prenyltransferase, HB_polyprenyltransferase-like, UbiA_prenylTrfase_CS
AXDND1	Other/Unknown	no		Axonemal_dynein_light_chain, Axonemal_dynein_LC_domain
XPNPEP3	Protease	yes	3.4.11.9	Pept_M24, Aminopep_P_N, Creatin/AminoP/Spt16_N
HORMAD2	Other/Unknown	no		HORMA_dom, HORMA_dom_sf, HORMA_MeioticProgression
TMEM67	Other/Unknown	no		Growth_fac_rcpt_cys_sf, Meckelin
DGKE	Kinase	yes	2.7.1.107	Diacylglycerol_kin_accessory, Diacylglycerol_kinase_cat_dom, PKC_DAG/PE
CEP290	Other/Unknown	no		Cep290, Cep209_CC5
IFT140	Scaffold/PPI	no		WD40_rpt, WD40/YVTN_repeat-like_dom_sf, WD40_repeat_dom_sf
RPGRIP1L	Other/Unknown	no		C2_dom, C2-C2_1, RPGRIP1_fam
GLIS2	Transcription factor	no		Znf_C2H2_type, Znf_C2H2_sf, GLI-like
PREPL	Protease	yes	3.4.21.26	Peptidase_S9_cat, Peptidase_S9A, Pept_S9A_N
MFF-DT	Other/Unknown	no
TAP1	Transporter	yes	7.4.2.14	ABC_transporter-like_ATP-bd, AAA+_ATPase, ABC1_TM_dom
TAP2	Transporter	yes	7.4.2.14	ABC_transporter-like_ATP-bd, AAA+_ATPase, Tap2/ABCB3

Expression context

Cohort genes with no expression data: 0.

67 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)	1
broad (>20)	73
unknown	0

Top tissues across cohort

Tissue	Cohort genes
male germ line stem cell (sensu Vertebrata) in testis	12
right lobe of liver	8
right uterine tube	8
granulocyte	7
liver	6
calcaneal tendon	6
buccal mucosa cell	6
gall bladder	5
primordial germ cell in gonad	5
stromal cell of endometrium	5
sural nerve	5
monocyte	5
parietal pleura	4
metanephros cortex	4
leukocyte	4
lymph node	4
vermiform appendix	4
body of pancreas	3
right lung	3
adult mammalian kidney	3

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
CFHR4	79	tissue_specific	marker	right lobe of liver, liver, male germ line stem cell (sensu Vertebrata) in testis
CFHR3	127	tissue_specific	marker	right lobe of liver, liver, male germ line stem cell (sensu Vertebrata) in testis
CFHR5	15	tissue_specific	marker	right lobe of liver, liver, male germ line stem cell (sensu Vertebrata) in testis
CFH	267	ubiquitous	marker	urethra, calcaneal tendon, right coronary artery
CFHR1	125		marker	right lobe of liver, liver, male germ line stem cell (sensu Vertebrata) in testis
SLC41A1	241	ubiquitous	marker	left ventricle myocardium, cardiac muscle of right atrium, myocardium
ANKFY1	265	ubiquitous	marker	skin of hip, parietal pleura, corpus callosum
CFB	134	broad	marker	right lobe of liver, liver, gall bladder
SDCCAG8	134	ubiquitous	marker	corpus callosum, calcaneal tendon, thyroid gland
SLC3A1	163	tissue_specific	marker	body of pancreas, gall bladder, metanephros cortex
SMARCAL1	264	ubiquitous	marker	primordial germ cell in gonad, stromal cell of endometrium, sural nerve
THBD	259	ubiquitous	marker	gingival epithelium, gingiva, vena cava
TRPC6	180	broad	marker	right lung, lower esophagus muscularis layer, lower esophagus
UMOD	104	tissue_specific	marker	renal medulla, adult organism, adult mammalian kidney
WT1	168	broad	marker	germinal epithelium of ovary, renal glomerulus, metanephric glomerulus
C3	289	ubiquitous	marker	parietal pleura, right lobe of liver, palpebral conjunctiva
NEK8	196	ubiquitous	marker	buccal mucosa cell, metanephros cortex, left lobe of thyroid gland
NPHS2	47	tissue_specific	marker	renal glomerulus, metanephric glomerulus, kidney epithelium
CD2AP	275	ubiquitous	marker	jejunal mucosa, esophagus squamous epithelium, colonic mucosa
SLC25A21	165	broad	marker	primordial germ cell in gonad, male germ line stem cell (sensu Vertebrata) in testis, stromal cell of endometrium
NLRP3	172	broad	marker	monocyte, mononuclear cell, leukocyte
ACTN4	145	ubiquitous	marker	popliteal artery, tibial artery, smooth muscle tissue
PLCE1	271	broad	marker	renal glomerulus, metanephric glomerulus, ventricular zone
INVS	215	ubiquitous	yes	calcaneal tendon, adrenal tissue, sural nerve
NEK9	296	ubiquitous	marker	tibia, right uterine tube, left ovary
COQ8B	227	ubiquitous	marker	right uterine tube, adenohypophysis, pituitary gland
NPHP4	165	ubiquitous	marker	right uterine tube, adenohypophysis, right lobe of thyroid gland
SLC34A3	147	tissue_specific	yes	lower esophagus mucosa, right uterine tube, adult mammalian kidney
KCTD11	132	ubiquitous	marker	lower esophagus mucosa, tibial nerve, esophagus mucosa
CCM2	243	ubiquitous	marker	putamen, nucleus accumbens, anterior cingulate cortex

Protein interactions among cohort

Intra-cohort edges: 161.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
MYH9	5,533
WT1	3,938
NLRP3	3,797
HLA-DRB1	3,448
ACTN4	3,303
REN	3,244
C3	3,199
PSMB8	3,188
SLC34A3	3,023
ANKFY1	2,929

Intra-cohort edges

A	B	Sources
ACTN4	CD2AP	string_interaction
ACTN4	INF2	string_interaction
ACTN4	MYH9	biogrid_interaction, string_interaction
ACTN4	MYO1E	string_interaction
ACTN4	NPHS1	string_interaction
ACTN4	NPHS2	string_interaction
ACTN4	PLCE1	string_interaction
ACTN4	TRPC6	string_interaction
C3	CD46	intact, string_interaction
C3	CFB	intact, string_interaction
C3	CFH	biogrid_interaction, intact, string_interaction
C3	CFHR1	string_interaction
C3	CFHR2	intact, string_interaction
C3	CFHR3	biogrid_interaction, string_interaction
C3	CFHR4	biogrid_interaction, intact, string_interaction
C3	CFHR5	string_interaction
C3	CFI	biogrid_interaction, intact, string_interaction
CD2AP	INF2	string_interaction
CD2AP	LAMB2	string_interaction
CD2AP	NPHS1	string_interaction
CD2AP	NPHS2	biogrid_interaction, string_interaction
CD2AP	PLCE1	string_interaction
CD2AP	RPGRIP1L	biogrid_interaction
CD2AP	TRPC6	string_interaction
CD46	CFHR2	string_interaction
CD46	CFHR3	string_interaction
CD46	CFHR4	string_interaction
CD46	CFHR5	string_interaction
CD46	CFI	intact, string_interaction
CD46	DGKE	string_interaction
CD46	THBD	string_interaction
CEP290	INVS	string_interaction
CEP290	NEK8	string_interaction
CEP290	NPHP1	string_interaction
CEP290	NPHP3	string_interaction
CEP290	NPHP4	string_interaction
CEP290	RPGRIP1L	string_interaction
CEP290	SDCCAG8	string_interaction
CEP290	TMEM67	string_interaction
CEP290	XPNPEP3	string_interaction
CFB	CFHR1	intact, string_interaction
CFB	CFHR2	string_interaction
CFB	CFHR3	string_interaction
CFB	CFHR4	intact, string_interaction
CFB	CFHR5	string_interaction
CFB	CFI	string_interaction
CFB	DGKE	string_interaction
CFH	CFHR1	intact
CFH	CFHR3	biogrid_interaction, intact
CFH	CFI	intact, string_interaction

Structural data

PDB: 45 · AlphaFold-only: 26 · No structure: 3

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
HLA-DRB1	P01911	108
REN	P00797	91
C3	P01024	75
CFH	P08603	51
WT1	P19544	28
HLA-DQA1	P01909	28
CFB	P00751	26
NLRP3	Q96P20	24
TAP1	Q03518	22
PSMB8	P28062	22
TAP2	Q03519	21
THBD	P07204	13
CD2AP	Q9Y5K6	12
UMOD	P07911	10
INF2	Q27J81	10
HLA-DPA1	P20036	10
HLA-DPB1	P04440	10
HLA-DQB1	P01920	10
CCM2	Q9BSQ5	8
MYH9	P35579	8
CD46	P15529	7
PSMB9	P28065	7
TRPC6	Q9Y210	6
SLC3A1	Q07837	5
ACTN4	O43707	5
LIF	P15018	5
IFT140	Q96RY7	4
CFHR2	P36980	4
PLCE1	Q9P212	3
CFHR1	Q03591	2

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
CFHR3	Q02985	91.93
SLC25A21	Q9BQT8	88.91
CFHR4	Q92496	87.75
ANKFY1	Q9P2R3	86.98
DGKE	P52429	86.18
COQ2	Q96H96	85.64
NEK8	Q86SG6	85.23
KCTD11	Q693B1	85.00
CFHR5	Q9BXR6	83.76
MYO1E	Q12965	80.46
PDSS2	Q86YH6	80.28
SDCCAG8	Q86SQ7	78.67
SLC41A1	Q8IVJ1	78.41
COQ8B	Q96D53	77.00
LAMB2	P55268	75.94
SLC34A3	Q8N130	75.86
NPHS2	Q9NP85	75.00
HORMAD2	Q8N7B1	72.61
NPHP4	O75161	72.44
AXDND1	Q5T1B0	70.90
LMX1B	O60663	70.79
INVS	Q9Y283	70.76
MTMR3	Q13615	66.94
CEP290	O15078	60.90
DNAJB7	Q7Z6W7	59.38
GLIS2	Q9BZE0	55.47

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 177. Enrichment computed across 74 evidence-associated genes (57 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 57 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Regulation of Complement cascade	10	40.9×	5e-12	CFHR4, CFHR3, CFHR5, CFH, CFHR1, CFB, C3, CFHR2 (+2 more)
Translocation of ZAP-70 to Immunological synapse	4	44.5×	1e-04	HLA-DPA1, HLA-DPB1, HLA-DQA1, HLA-DRB1
Phosphorylation of CD3 and TCR zeta chains	4	38.2×	2e-04	HLA-DPA1, HLA-DPB1, HLA-DQA1, HLA-DRB1
Co-inhibition by PD-1	4	36.4×	2e-04	HLA-DPA1, HLA-DPB1, HLA-DQA1, HLA-DRB1
Attachment of bacteria to epithelial cells	4	34.8×	2e-04	COL4A3, COL4A4, COL4A5, LAMB2
Nephrin family interactions	4	33.4×	2e-04	NPHS2, CD2AP, ACTN4, NPHS1
Anchoring of the basal body to the plasma membrane	6	11.9×	3e-04	SDCCAG8, NPHP4, TMEM67, CEP290, RPGRIP1L, NPHP1
Laminin interactions	4	26.7×	3e-04	COL4A3, COL4A4, COL4A5, LAMB2
Generation of second messenger molecules	4	24.3×	4e-04	HLA-DPA1, HLA-DPB1, HLA-DQA1, HLA-DRB1
Ubiquinol biosynthesis	3	46.2×	6e-04	COQ8B, PDSS2, COQ2
Anchoring fibril formation	3	40.1×	8e-04	COL4A3, COL4A4, COL4A5
Interferon gamma signaling	5	11.0×	0.001	HLA-DPA1, HLA-DPB1, HLA-DQA1, HLA-DQB1, HLA-DRB1
Fibronectin matrix formation	3	30.1×	0.002	COL4A3, COL4A4, COL4A5
Crosslinking of collagen fibrils	3	30.1×	0.002	COL4A3, COL4A4, COL4A5
Alternative complement activation	2	80.1×	0.003	CFB, C3
Non-integrin membrane-ECM interactions	4	10.8×	0.005	COL4A3, COL4A4, COL4A5, LAMB2
ECM proteoglycans	4	10.5×	0.006	COL4A3, COL4A4, COL4A5, LAMB2
Activation of C3 and C5	2	44.5×	0.008	CFB, C3
ER-Phagosome pathway	4	9.1×	0.009	TAP1, TAP2, PSMB8, PSMB9
Downstream TCR signaling	4	9.0×	0.009	HLA-DPA1, HLA-DPB1, HLA-DQA1, HLA-DRB1
Collagen chain trimerization	3	13.7×	0.011	COL4A3, COL4A4, COL4A5
Signaling by PDGF	3	13.4×	0.012	COL4A3, COL4A4, COL4A5
NCAM1 interactions	3	13.1×	0.012	COL4A3, COL4A4, COL4A5
Assembly of collagen fibrils and other multimeric structures	3	10.5×	0.021	COL4A3, COL4A4, COL4A5
MHC class II antigen presentation	4	6.3×	0.027	HLA-DPA1, HLA-DPB1, HLA-DQA1, HLA-DRB1
Collagen degradation	3	9.2×	0.028	COL4A3, COL4A4, COL4A5
Antigen processing: Ub, ATP-independent proteasomal degradation	2	20.0×	0.028	PSMB8, PSMB9
Collagen biosynthesis and modifying enzymes	3	9.0×	0.028	COL4A3, COL4A4, COL4A5
Defective SLC34A3 causes Hereditary hypophosphatemic rickets with hypercalciuria (HHRH)	1	200.3×	0.030	SLC34A3
Effects of PIP2 hydrolysis	2	16.0×	0.040	TRPC6, DGKE

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 70 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
complement activation	8	71.3×	7e-11	CFHR4, CFHR3, CFHR5, CFH, CFHR1, CFB, C3, CFHR2
glomerular basement membrane development	5	109.4×	1e-07	WT1, COL4A3, COL4A4, MYO1E, NPHS1
peptide antigen assembly with MHC class II protein complex	5	75.2×	8e-07	HLA-DPA1, HLA-DPB1, HLA-DQA1, HLA-DQB1, HLA-DRB1
antigen processing and presentation of exogenous peptide antigen via MHC class II	5	38.8×	2e-05	HLA-DPA1, HLA-DPB1, HLA-DQA1, HLA-DQB1, HLA-DRB1
positive regulation of immune response	5	34.4×	4e-05	HLA-DPA1, HLA-DPB1, HLA-DQA1, HLA-DQB1, HLA-DRB1
positive regulation of T cell activation	5	31.7×	4e-05	HLA-DPA1, HLA-DPB1, HLA-DQA1, HLA-DQB1, HLA-DRB1
complement activation, alternative pathway	4	56.6×	5e-05	CFHR5, CFH, CFB, C3
glomerular filtration	4	53.5×	6e-05	UMOD, NPHS2, XPNPEP3, MYO1E
obsolete cytolysis by host of symbiont cells	3	90.3×	2e-04	CFHR5, CFHR1, CFHR2
kidney development	6	12.0×	6e-04	WT1, INVS, CEP290, RPGRIP1L, NPHP3, REN
cytosol to endoplasmic reticulum transport	2	240.7×	8e-04	TAP1, TAP2
metanephric podocyte development	2	240.7×	8e-04	NPHS2, LAMB2
glomerulus development	3	55.6×	8e-04	WT1, PLCE1, MYO1E
juxtaglomerular apparatus development	2	160.5×	0.002	UMOD, REN
ubiquinone biosynthetic process	3	40.1×	0.002	COQ8B, PDSS2, COQ2
non-motile cilium assembly	4	16.6×	0.003	CEP290, IFT140, RPGRIP1L, NPHP3
determination of left/right symmetry	4	14.6×	0.005	NEK8, IFT140, RPGRIP1L, NPHP3
negative regulation of protein binding	3	26.8×	0.005	CFHR5, CFHR1, CFHR2
adaptive immune response	6	7.2×	0.005	TAP1, HLA-DPA1, HLA-DPB1, HLA-DQA1, HLA-DQB1, CD46
visual behavior	2	80.2×	0.007	NPHP4, NPHP1
neural tube patterning	2	80.2×	0.007	IFT140, RPGRIP1L
complement activation, classical pathway	3	23.3×	0.007	C3, CFI, CD46
antigen processing and presentation of endogenous peptide antigen via MHC class I	2	60.2×	0.011	TAP1, TAP2
positive regulation of memory T cell differentiation	2	53.5×	0.013	HLA-DRB1, CD46
pericardium development	2	53.5×	0.013	CCM2, RPGRIP1L
isoprenoid biosynthetic process	2	48.1×	0.015	PDSS2, COQ2
positive regulation of bicellular tight junction assembly	2	48.1×	0.015	NPHP4, NPHP1
intracellular phosphate ion homeostasis	2	43.8×	0.018	UMOD, SLC34A3
podocyte development	2	43.8×	0.018	MYO1E, NPHS1
podocyte differentiation	2	40.1×	0.020	WT1, CD2AP

Therapeutics

Drugs indicated for this disease

2 approved, 27 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

Drug	Development status
Bumetanide	Approved (phase 4)
Sevelamer Hydrochloride	Approved (phase 4)
Acetaminophen	Phase 3 (in late-stage trials)
Angiotensin	Phase 3 (in late-stage trials)
Atorvastatin	Phase 3 (in late-stage trials)
Azathioprine	Phase 3 (in late-stage trials)
Corticotropin	Phase 3 (in late-stage trials)
Cyclosporine	Phase 3 (in late-stage trials)
Darbepoetin Alfa	Phase 3 (in late-stage trials)
Diphenhydramine	Phase 3 (in late-stage trials)
Furosemide	Phase 3 (in late-stage trials)
Gemigliptin	Phase 3 (in late-stage trials)
Lipoic Acid, Alpha	Phase 3 (in late-stage trials)
Losartan	Phase 3 (in late-stage trials)
Methylprednisolone	Phase 3 (in late-stage trials)
Mycophenolate Mofetil	Phase 3 (in late-stage trials)
Nesiritide	Phase 3 (in late-stage trials)
Obinutuzumab	Phase 3 (in late-stage trials)
Olmesartan Medoxomil	Phase 3 (in late-stage trials)
Paricalcitol	Phase 3 (in late-stage trials)
Prednisolone	Phase 3 (in late-stage trials)
Prednisone	Phase 3 (in late-stage trials)
Rituximab	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)
Telmisartan	Phase 3 (in late-stage trials)
Valsartan	Phase 3 (in late-stage trials)
Vitamin E	Phase 3 (in late-stage trials)

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Acetazolamide, Acetylcysteine, Albumin Human, Aliskiren, Basiliximab, Belimumab, Bremelanotide, Carvedilol, Efgartigimod Alfa, Empagliflozin, Everolimus, Febuxostat, Felzartamab, Hydrochlorothiazide, Iohexol, Lanthanum Carbonate, Methoxy Polyethylene Glycol-Epoetin Beta, Neostigmine, PEGINTERFERON ALFA-2A, Ramipril, Rocuronium, Sargramostim, Setrusumab, Sorafenib, Sugammadex, Sulforaphane, Tolvaptan, Voclosporin, Zanubrutinib.

Drug target analysis

Approved (phase 4): 7 · Phase ≥3: 7 · Phased (≥1): 11 · Undrugged: 63

Druggability breadth: 30 of 74 evidence-associated genes (41%) 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
CFB	IPTACOPAN
NLRP3	CLOMIPHENE
NEK9	MOMELOTINIB
COQ8B	FEDRATINIB
PSMB8	BORTEZOMIB
PSMB9	BORTEZOMIB
REN	CAPTOPRIL

Top cohort targets by molecule count

Symbol	Molecules	Max phase
NEK9	21	4
REN	13	4
NLRP3	11	4
COQ8B	9	4
PSMB8	7	4
PSMB9	7	4
CFB	1	4
TRPC6	1	2
SLC25A21	1	2
ACTN4	1	2

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
IPTACOPAN	4	CFB
CLOMIPHENE	4	NLRP3
GLYBURIDE	4	NLRP3
MOMELOTINIB	4	NEK9
FEDRATINIB	4	COQ8B, NEK9
DABRAFENIB	4	NEK9
PACRITINIB	4	NEK9
FOSTAMATINIB	4	NEK9
CRIZOTINIB	4	COQ8B, NEK9
VANDETANIB	4	COQ8B
ERLOTINIB	4	COQ8B
BORTEZOMIB	4	PSMB8, PSMB9
CARFILZOMIB	4	PSMB8, PSMB9
CAPTOPRIL	4	REN
ALISKIREN	4	REN
ALISKIREN FUMARATE	4	REN
CURCUMIN	3	NLRP3
JT-001	3	NLRP3
DOVITINIB	3	NEK9
LESTAURTINIB	3	NEK9
CANERTINIB	3	COQ8B
IXAZOMIB	3	PSMB8, PSMB9
MARIZOMIB	3	PSMB8, PSMB9
SITOKIREN	3	REN
CLEMIZOLE	2	TRPC6
ALLICIN	2	SLC25A21
TRICLOCARBAN	2	NLRP3
CLIOXANIDE	2	NLRP3
DAPANSUTRILE	2	NLRP3
USNOFLAST	2	NLRP3

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 13.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
REN	541	Binding:472, Functional:68, ADMET:1
NLRP3	534	Binding:527, Functional:6, ADMET:1
PSMB8	262	Binding:250, ADMET:9, Functional:3
NEK9	254	Binding:254
PSMB9	220	Binding:210, ADMET:7, Functional:3
COQ8B	77	Binding:77
NEK8	37	Binding:37
CFB	33	Binding:33
TRPC6	30	Binding:30
HLA-DRB1	17	Binding:17
C3	15	Binding:15
MYH9	10	Binding:10
ACTN4	7	Binding:7
TAP1	4	Binding:4
TAP2	3	Binding:3
PLA2R1	3	Binding:3
SLC25A21	2	Binding:2
HLA-DQA1	2	Binding:2
CFH	1	Binding:1
CD2AP	1	Binding:1
SLC34A3	1	Binding:1
KCTD11	1	Binding:1
INF2	1	Binding:1
XPNPEP3	1	ADMET:1
DGKE	1	Binding:1
PREPL	1	Binding:1

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
CFB	3.4.21.47	alternative-complement-pathway C3/C5 convertase
C3	3.4.21.47	alternative-complement-pathway C3/C5 convertase
PLCE1	3.1.4.11	phosphoinositide phospholipase C
PDSS2	2.5.1.91	all-trans-decaprenyl-diphosphate synthase
COQ2	2.5.1.39	4-hydroxybenzoate polyprenyltransferase
XPNPEP3	3.4.11.9	Xaa-Pro aminopeptidase
DGKE	2.7.1.107	diacylglycerol kinase (ATP)
PREPL	3.4.21.26	prolyl oligopeptidase
TAP1	7.4.2.14, 7.4.2.5	ABC-type antigen peptide transporter, bacterial ABC-type protein transporter
TAP2	7.4.2.14, 7.4.2.5	ABC-type antigen peptide transporter, bacterial ABC-type protein transporter
CFI	3.4.21.45	complement factor I
MTMR3	3.1.3.95	phosphatidylinositol-3,5-bisphosphate 3-phosphatase
REN	3.4.23.15	renin

Cohort genes with high screening signal

≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.

Symbol	ChEMBL assays
NLRP3	534
NEK9	254
PSMB8	262
PSMB9	220
REN	541

Pharmacogenomics

Cohort genes with a PharmGKB record: 72; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

29 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)
IPTACOPAN	4	CFB
CLOMIPHENE	4	NLRP3
GLYBURIDE	4	NLRP3
MOMELOTINIB	4	NEK9
FEDRATINIB	4	COQ8B, NEK9
DABRAFENIB	4	NEK9
PACRITINIB	4	NEK9
FOSTAMATINIB	4	NEK9
CRIZOTINIB	4	COQ8B, NEK9
VANDETANIB	4	COQ8B
ERLOTINIB	4	COQ8B
BORTEZOMIB	4	PSMB8, PSMB9
CARFILZOMIB	4	PSMB8, PSMB9
CAPTOPRIL	4	REN
ALISKIREN FUMARATE	4	REN
CURCUMIN	3	NLRP3
JT-001	3	NLRP3
DOVITINIB	3	NEK9
LESTAURTINIB	3	NEK9
CANERTINIB	3	COQ8B
IXAZOMIB	3	PSMB8, PSMB9
MARIZOMIB	3	PSMB8, PSMB9
SITOKIREN	3	REN
CLEMIZOLE	2	TRPC6
ALLICIN	2	SLC25A21
TRICLOCARBAN	2	NLRP3
CLIOXANIDE	2	NLRP3
DAPANSUTRILE	2	NLRP3
USNOFLAST	2	NLRP3

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	7	CFB, NLRP3, NEK9, COQ8B, PSMB8, PSMB9, REN
B	Phased (≥1) drug, not yet approved	4	TRPC6, SLC25A21, ACTN4, MYH9
C	Druggable family + PDB, no drug	17	CFH, CFHR1, C3, PLCE1, XPNPEP3, PREPL, TAP1, TAP2, CFHR2, HLA-DPA1 (+7 more)
D	Druggable family + AlphaFold only, no drug	8	CFHR4, CFHR3, CFHR5, NEK8, PDSS2, COQ2, DGKE, MTMR3
E	Difficult family or no structure, no drug	38	SLC41A1, ANKFY1, SDCCAG8, SLC3A1, SMARCAL1, THBD, UMOD, WT1, NPHS2, CD2AP (+28 more)

Undrugged target profiles

63 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
CFHR3	0	CFB
CFHR5	0	CFB
CFHR1	0	CFB
C3	15	CFB
NPHS2	0	TRPC6
PLCE1	0	TRPC6
COL4A4	0	MYH9
INF2	1	ACTN4
DGKE	1	CFB
TAP1	4	PSMB9, PSMB8
TAP2	3	PSMB9, PSMB8
CFI	0	CFB
MYO1E	0	ACTN4
NPHP3	0	NEK9
CFHR4	0	—
CFH	1	—
SLC41A1	0	—
ANKFY1	0	—
SDCCAG8	0	—
SLC3A1	0	—
SMARCAL1	0	—
THBD	0	—
UMOD	0	—
WT1	0	—
NEK8	37	—
CD2AP	1	—
INVS	0	—
NPHP4	0	—
SLC34A3	1	—
KCTD11	1	—

Clinical trials & evidence

Clinical trials

Clinical trials: 572.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	359
PHASE4	55
PHASE3	50
PHASE1	46
PHASE2	44
PHASE1/PHASE2	11
PHASE2/PHASE3	4
EARLY_PHASE1	3

Top trials by phase / activity

NCT	Phase	Status	Title
NCT05096195	PHASE4	ACTIVE_NOT_RECRUITING	PRevEnting FracturEs in REnal Disease - 1
NCT06291077	PHASE4	NOT_YET_RECRUITING	Comparison of the Effects of Belatacept and Anticalcineurins on Endothelial Function in Renal Transplant Patients -
NCT06625073	PHASE4	RECRUITING	Randomized Trial of SGLT2i in Heart Transplant Recipients
NCT06642623	PHASE4	RECRUITING	A Prospective Trial of Enavogliflozin to Evaluate Cardio-renal Outcome in Type 2 Diabetes Mellitus Patients
NCT07138521	PHASE4	NOT_YET_RECRUITING	Optimizing Linezolid Dosing in Patients With Advanced Renal Impairment: a Therapeutic Drug Monitoring-based Evaluation
NCT07182422	PHASE4	RECRUITING	AST-120 (Kremezin®) for the Renal Protection and Attenuation of Decline in Acute Kidney Disease
NCT00067990	PHASE4	COMPLETED	Angiotensin II Blockade for Chronic Allograft Nephropathy
NCT00117078	PHASE4	COMPLETED	Aranesp® Monthly Preference Study - 2
NCT00117130	PHASE4	COMPLETED	Study to Evaluate Effectiveness of Aranesp®
NCT00132431	PHASE4	COMPLETED	START: Sensipar Treatment Algorithm to Reach K/DOQI Targets in Chronic Kidney Disease Subjects With Secondary Hyperparathyroidism
NCT00140985	PHASE4	COMPLETED	Antiproteinuric Efficacy of Losartan Potassium in Patients With Non-Diabetic Proteinuric Renal Diseases (0954-213)
NCT00246129	PHASE4	COMPLETED	CamTac Trial:Campath-Tacrolimus vs IL2R MoAb/Tacrolimus/MMF in Renal Transplantation
NCT00275535	PHASE4	COMPLETED	The Comparison of Tacrolimus and Sirolimus Immunosuppression Based Drug Regimens in Kidney Transplant Recipients
NCT00282217	PHASE4	COMPLETED	Study Evaluating Sirolimus in the Treatment of Kidney Transplant
NCT00289614	PHASE4	COMPLETED	Patients With Renal Impairment and Diabetes Undergoing Computed Tomography (CT)
NCT00290069	PHASE4	UNKNOWN	Renal Function Optimization With Mycophenolate Mofetil (MMF) Immunosuppressor Regimes (ALHAMBRA)
NCT00338468	PHASE4	TERMINATED	A Study to Assess Disability in Anemic Elderly Patients With Kidney Disease Receiving PROCRIT (Epoetin Alfa)
NCT00368901	PHASE4	COMPLETED	STAAR-2 Clinical Study
NCT00369733	PHASE4	COMPLETED	STAAR-3 Clinical Study
NCT00369772	PHASE4	COMPLETED	STAAR-1 Clinical Study
NCT00379899	PHASE4	COMPLETED	ADVANCE: Study to Evaluate Cinacalcet Plus Low Dose Vitamin D on Vascular Calcification in Subjects With Chronic Kidney Disease Receiving Hemodialysis
NCT00443508	PHASE4	UNKNOWN	Reduction or Discontinuation of CNI’s With Conversion to Everolimus-Based Immunosuppresion
NCT00452478	PHASE4	TERMINATED	Conversion From Standard Phosphate Binder Therapy to Fosrenol® (Lanthanum Carbonate) in Chronic Kidney Disease Stage 5
NCT00492518	PHASE4	COMPLETED	Acetylcysteine, Theophylline, and a Combination of Both in the Prophylaxis of Contrast-Induced Nephropathy
NCT00505102	PHASE4	UNKNOWN	Safe Renal Function In Long Term Heart Transplanted Patients
NCT00526331	PHASE4	COMPLETED	Evaluation of Arterial Pressure Based Cardiac Output for Goal-Directed Perioperative Therapy
NCT00688480	PHASE4	COMPLETED	Do Xanthine Oxidase Inhibitors Reduce Both Left Ventricular Hypertrophy and Endothelial Dysfunction in Cardiovascular Patients With Renal Dysfunction?
NCT00863707	PHASE4	COMPLETED	A Study of the Safety and Tolerance of Regadenoson in Subjects With Renal Impairment
NCT01101698	PHASE4	UNKNOWN	Vitamin K2 and Vessel Calcification in Chronic Kidney Disease Patients
NCT01150201	PHASE4	COMPLETED	Aliskiren Combined With Losartan in Proteinuric, Non-diabetic Chronic Kidney Disease
NCT01155141	PHASE4	COMPLETED	Idiopathic Focal Segmental Glomerulosclerosis (FSGS) and Treatment With ACTH
NCT01228279	PHASE4	COMPLETED	Sympathetic Activity in Patients With End-stage Renal Disease on Peritoneal Dialysis
NCT01334333	PHASE4	COMPLETED	Comparison of Medication Adherence Between Once and Twice Daily Tacrolimus in Stable Renal Transplant Recipients
NCT01437943	PHASE4	TERMINATED	Effect of Short Term Aliskiren Treatment in Kidney Transplant Patients
NCT01545479	PHASE4	COMPLETED	Increased Renal Oxygenation and Angiotensin Converting Enzyme Inhibition
NCT01614431	PHASE4	COMPLETED	N Acetyl Cysteine for Cystinosis Patients
NCT01631149	PHASE4	COMPLETED	Effect of Deep BLock on Intraoperative Surgical Conditions
NCT01722513	PHASE4	UNKNOWN	Efficacy and Safety of Alprostadil Prevent Contrast Induced Nephropathy
NCT01985360	PHASE4	COMPLETED	ISCHEMIA-Chronic Kidney Disease Trial
NCT02311010	PHASE4	UNKNOWN	Practical Use of Advagraf de Novo After Kidney Transplantation According to Recipient Genetic Polymorphism

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
CINACALCET	4	11
LOSARTAN	4	10
DARBEPOETIN ALFA	4	8
TACROLIMUS ANHYDROUS	4	6
IOPAMIDOL	4	5
IOHEXOL	4	4
LISINOPRIL ANHYDROUS	4	4
ACETYLCYSTEINE	4	3
ALEMTUZUMAB	4	3
CORTICOTROPIN	4	3
LANTHANUM CARBONATE	4	3
SIROLIMUS	4	3
THEOPHYLLINE ANHYDROUS	4	3
ALISKIREN	4	2
DACLIZUMAB	4	2
EPOETIN ALFA	4	2
GLECAPREVIR	4	2
GLUCAGON	4	2
NEDOSIRAN SODIUM	4	2
OLMESARTAN MEDOXOMIL	4	2
PARICALCITOL	4	2
PIBRENTASVIR	4	2
REGADENOSON ANHYDROUS	4	2
SODIUM BICARBONATE	4	2
SPARSENTAN	4	2
VADADUSTAT	4	2
ACYCLOVIR	4	1
ALLOPURINOL	4	1
ALPROSTADIL	4	1
ALTEPLASE	4	1