Chronic kidney disease

Summary

Chronic kidney disease (MONDO:0005300) is a disease (an umbrella term covering 6 Mondo subtypes) with 75 cohort genes (421 GWAS associations across 120 studies) and 2,033 clinical trials. The dominant Reactome pathway is Fibronectin matrix formation (5 cohort genes). Top therapeutic interventions include cinacalcet, paricalcitol, and sevelamer.

At a glance

• Umbrella term: 6 Mondo subtypes
• Cohort genes: 75
• GWAS associations: 421
• ClinVar variants: 53
• Clinical trials: 2,033

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	chronic kidney disease
Mondo ID	MONDO:0005300
EFO	EFO:0003884
MeSH	D007676
DOID	DOID:784
ICD-10-CM	N18, N18.9
ICD-11	412389819
NCIT	C80078
SNOMED CT	709044004
UMLS	C1561643
MedGen	473458
Is cancer (heuristic)	no

Also known as: chronic kidney disease · chronic renal disease · chronic renal failure syndrome · CKD - chronic kidney disease · kidney disease, chronic

Data availability: 53 ClinVar variants · 421 GWAS associations (120 studies) · 1 cell line.

Disease family

An umbrella term covering 6 Mondo subtypes.

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

Related subtypes (56): 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, 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 (6): chronic pyelonephritis, chronic rapidly progressive glomerulonephritis, end stage renal failure, diabetic kidney disease, chronic renal failure syndrome, arterionephrosclerosis

Genetics & variants

GWAS landscape

421 GWAS associations across 120 studies. Top hits map to 26 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs911119	2e-138	CST3	?
rs77924615	3e-107	PDILT	G	0.22
APOL1	6e-76		?	4.74
chr16:20381010	9e-71		A	0.2
chr16:20367690	7e-68		G	0.19
rs9622363	9e-46	APOL1	A	0.32
rs9622362	2e-45	APOL1	A	0.33
rs6464165	3e-32	PRKAG2	T	0.09
rs334	9e-31	HBB	T	0.36
rs36060036	1e-29	UMOD	C	0.24
rs10224210	1e-29	PRKAG2	T	0.09
rs58384577	3e-26	APOL1	T	0.17
rs60295735	8e-26	APOL1 - MYH9	G	0.17
rs13329952	2e-25	UMOD	T	1.24
rs7903146	2e-25	TCF7L2	C	0.08
rs73728279	7e-24	PRKAG2	T	1.11
rs34872471	4e-23	TCF7L2	T	0.08
chr7:151717243	7e-23		C	0.09
rs10767873	3e-22	MPPED2-AS1 - DCDC1	C	0.08
rs2453533	5e-22	SLC28A2-AS1 - RNU6-953P	?
rs963837	2e-21	MPPED2-AS1 - DCDC1	T	1.08
rs11642015	5e-21	FTO	C	0.07
rs12917707	1e-20	UMOD	T
chr22:36696087	1e-20		C	0.22
rs3925584	2e-20	MPPED2-AS1 - DCDC1	T	0.07
rs17319721	1e-19	SHROOM3	A
rs4821469	2e-19	APOL4 - APOL2	?	2.86
rs56139727	4e-19	TPPP - ZDHHC11B	G	0.11
rs34857077	6e-19	UMOD	GA
rs17730281	1e-18	WDR72	G	1.08

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST010552	Vujkovic M	2020	67,403	129,827	Discovery of 318 new risk loci for type 2 diabetes and related vascular outcomes among 1.4 million participants in a multi-ancestry meta-analysis.
GCST008064	Wuttke M	2019	64,164	561,055	A catalog of genetic loci associated with kidney function from analyses of a million individuals.
GCST008065	Wuttke M	2019	64,164	561,055	A catalog of genetic loci associated with kidney function from analyses of a million individuals.
GCST003374	Pattaro C	2016	12,385	104,780	Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.
GCST005880	van Zuydam NR	2018	5,447	4,717	A Genome-Wide Association Study of Diabetic Kidney Disease in Subjects With Type 2 Diabetes.
GCST005882	van Zuydam NR	2018	3,094	2,906	A Genome-Wide Association Study of Diabetic Kidney Disease in Subjects With Type 2 Diabetes.
GCST005427	Hernandez-Fuentes MP	2018	2,689	7,399	Long- and short-term outcomes in renal allografts with deceased donors: A large recipient and donor genome-wide association study.
GCST000397	Kottgen A	2009	2,388	17,489	Multiple loci associated with indices of renal function and chronic kidney disease.
GCST003864	Sandholm N	2016	2,068	1,903	The Genetic Landscape of Renal Complications in Type 1 Diabetes.
GCST007879	Graham SE	2019	2,044	65,575	Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	16
Tier 2: splice/UTR	3
Tier 3: regulatory	0
Tier 4: intronic/intergenic	31

MAF distribution

Bucket	Variants
common (>=0.05)	31
low_freq (0.01-0.05)	2
rare (<0.01)	0
unknown	17

Functional consequences

Consequence	Count
intron_variant	18
missense_variant	15
unknown	6
intergenic_variant	6
non_coding_transcript_exon_variant	1
3_prime_UTR_variant	1
5_prime_UTR_variant	1
stop_gained	1
splice_region_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs911119	20	23632100	C>G,T	0.21	non_coding_transcript_exon_variant	CST3	2e-138	Tier 4: intronic/intergenic
rs77924615	16	20381010	G>A	0.201	intron_variant	PDILT	3e-107	Tier 4: intronic/intergenic
APOL1							6e-76	Tier 4: intronic/intergenic
chr16:20381010							9e-71	Tier 4: intronic/intergenic
chr16:20367690				0.18			7e-68	Tier 4: intronic/intergenic
rs9622363	22	36260509	A>G	0.108	intron_variant	APOL1	9e-46	Tier 4: intronic/intergenic
rs9622362	22	36260398	A>C	0.472	intron_variant	APOL1	2e-45	Tier 4: intronic/intergenic
rs6464165	7	151716038	T>C	0.282	intron_variant	PRKAG2	3e-32	Tier 4: intronic/intergenic
rs334	11	5227002	T>A,C,G	0.038	missense_variant	HBB	9e-31	Tier 1: coding
rs36060036	16	20350628	C>T	0.163	intron_variant	UMOD	1e-29	Tier 4: intronic/intergenic
rs10224210	7	151716108	T>C	0.233	intron_variant	PRKAG2	1e-29	Tier 4: intronic/intergenic
rs58384577	22	36267167	T>C	0.221	3_prime_UTR_variant	APOL1	3e-26	Tier 2: splice/UTR
rs60295735	22	36271108	G>A	0.047	intergenic_variant	APOL1 - MYH9	8e-26	Tier 4: intronic/intergenic
rs13329952	16	20355185	T>C	0.19	intron_variant	UMOD	2e-25	Tier 4: intronic/intergenic
rs7903146	10	112998590	C>G,T	0.289	intron_variant	TCF7L2	2e-25	Tier 4: intronic/intergenic
rs73728279	7	151714408	G>A,T	0.27	intron_variant	PRKAG2	7e-24	Tier 4: intronic/intergenic
rs34872471	10	112994312	T>C	0.293	intron_variant	TCF7L2	4e-23	Tier 4: intronic/intergenic
chr7:151717243							7e-23	Tier 4: intronic/intergenic
rs10767873	11	30747131	C>T	0.452	intron_variant	MPPED2-AS1 - DCDC1	3e-22	Tier 4: intronic/intergenic
rs2453533	15	45349027	C>A,G,T	0.38	intergenic_variant	SLC28A2-AS1 - RNU6-953P	5e-22	Tier 4: intronic/intergenic
rs963837	11	30727543	T>A,C,G	0.43	intergenic_variant	MPPED2-AS1 - DCDC1	2e-21	Tier 4: intronic/intergenic
rs11642015	16	53768582	C>G,T	0.402	intron_variant	FTO	5e-21	Tier 4: intronic/intergenic
rs12917707	16	20356368	G>A,T	0.18	5_prime_UTR_variant	UMOD	1e-20	Tier 2: splice/UTR
chr22:36696087				0.46			1e-20	Tier 4: intronic/intergenic
rs3925584	11	30738788	T>A,C,G	0.454	intron_variant	MPPED2-AS1 - DCDC1	2e-20	Tier 4: intronic/intergenic
rs17319721	4	76447694	G>A	0.43	intron_variant	SHROOM3	1e-19	Tier 4: intronic/intergenic
rs4821469	22	36220399	T>C	0.056	intergenic_variant	APOL4 - APOL2	2e-19	Tier 4: intronic/intergenic
rs56139727	5	697265	G>C,T	0.391	intergenic_variant	TPPP - ZDHHC11B	4e-19	Tier 4: intronic/intergenic
rs34857077	16	20344691	GAA>G,GA,GAAA	0.237	intron_variant	UMOD	6e-19	Tier 4: intronic/intergenic
rs17730281	15	53615751	G>A	0.29	missense_variant	WDR72	1e-18	Tier 1: coding

ClinVar germline variants

53 retrieved; paginated sample, class counts are floors:

22 conflicting classifications of pathogenicity, 15 uncertain significance, 5 likely pathogenic, 4 pathogenic/likely pathogenic, 4 pathogenic, 3 benign/likely benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
449549	NM_000092.5(COL4A4):c.2906C>G (p.Ser969Ter)	COL4A4	Pathogenic	criteria provided, multiple submitters, no conflicts
915852	NM_000092.5(COL4A4):c.4603_4604del (p.Gln1535fs)	COL4A4	Pathogenic	criteria provided, multiple submitters, no conflicts
523547	NM_033380.3(COL4A5):c.3614G>T (p.Gly1205Val)	COL4A5	Pathogenic	criteria provided, single submitter
189227	NM_001081.4(CUBN):c.6928_6934del (p.Glu2310fs)	CUBN	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
373955	NM_000297.4(PKD2):c.357_364delinsTAGGACG (p.Pro120fs)	LOC129992813	Pathogenic	criteria provided, single submitter
217677	NM_017777.4(MKS1):c.1115_1117del (p.Ser372del)	MKS1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
188823	NM_014625.4(NPHS2):c.855_856del (p.Arg286fs)	NPHS2	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
5360	NM_014625.4(NPHS2):c.413G>A (p.Arg138Gln)	NPHS2	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
977307	NM_000092.5(COL4A4):c.2164+2T>G	COL4A4	Likely pathogenic	criteria provided, single submitter
1344866	NM_003396.3(WNT9B):c.949G>A (p.Gly317Arg)	LRRC37A2	Likely pathogenic	no assertion criteria provided
1344867	NM_003396.3(WNT9B):c.11dup (p.Pro5fs)	LRRC37A2	Likely pathogenic	no assertion criteria provided
183313	NM_177550.5(SLC13A5):c.231+2T>G	SLC13A5	Likely pathogenic	no assertion criteria provided
1344815	NM_014553.3(TFCP2L1):c.689del (p.Asp230fs)	TFCP2L1	Likely pathogenic	no assertion criteria provided
915855	NM_018685.5(ANLN):c.575C>G (p.Ser192Trp)	ANLN	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
636899	NM_000039.3(APOA1):c.388AAG[1] (p.Lys131del)	APOA1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
591005	NM_000186.4(CFH):c.2517C>A (p.Cys839Ter)	CFH	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
915864	NM_002113.3(CFHR1):c.790+1G>A	CFHR1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
279752	NM_030787.4(CFHR5):c.622T>C (p.Cys208Arg)	CFHR5	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
402534	NM_030787.4(CFHR5):c.486dup (p.Glu163fs)	CFHR5	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
196327	NM_001845.6(COL4A1):c.161C>T (p.Pro54Leu)	COL4A1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
452348	NM_000091.5(COL4A3):c.1886C>T (p.Thr629Met)	COL4A3	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
774610	NM_001966.4(EHHADH):c.2108C>T (p.Ser703Phe)	EHHADH	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
203697	NM_001985.3(ETFB):c.292C>T (p.Arg98Cys)	ETFB	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
721814	NM_212482.4(FN1):c.5954C>A (p.Pro1985His)	FN1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
779411	NM_212482.4(FN1):c.4486C>T (p.Arg1496Trp)	FN1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
790514	NM_212482.4(FN1):c.1775G>A (p.Arg592His)	FN1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
791471	NM_212482.4(FN1):c.1070G>A (p.Gly357Glu)	FN1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
915850	NM_212482.4(FN1):c.3130G>A (p.Val1044Met)	FN1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
716421	NM_198334.3(GANAB):c.925C>T (p.Arg309Cys)	GANAB	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
5271	NM_004252.5(NHERF1):c.458G>A (p.Arg153Gln)	NHERF1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 59 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 2

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

Gene	HGNC	Evidence routes
UMOD	UMOD	GWAS, Orphanet
TFCP2L1	TFCP2L1	GWAS

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
UMOD	Orphanet:88950	UMOD-related autosomal dominant tubulointerstitial kidney disease
RREB1	Orphanet:567	22q11.2 deletion syndrome
ATXN2	Orphanet:803	Amyotrophic lateral sclerosis
ATXN2	Orphanet:98756	Spinocerebellar ataxia type 2
SDCCAG8	Orphanet:110	Bardet-Biedl syndrome
SDCCAG8	Orphanet:3156	Senior-Loken syndrome
SLC24A4	Orphanet:100032	Hypocalcified amelogenesis imperfecta
SLC24A4	Orphanet:100033	Hypomaturation amelogenesis imperfecta
SLC34A1	Orphanet:157215	Hereditary hypophosphatemic rickets with hypercalciuria
SLC34A1	Orphanet:244305	Dominant hypophosphatemia with nephrolithiasis or osteoporosis
SLC34A1	Orphanet:300547	Autosomal recessive infantile hypercalcemia
SLC34A1	Orphanet:3337	Primary Fanconi renotubular syndrome
SLC35A3	Orphanet:370943	Autism spectrum disorder-epilepsy-arthrogryposis syndrome
SLC7A9	Orphanet:93613	Cystinuria type B
NHERF1	Orphanet:244305	Dominant hypophosphatemia with nephrolithiasis or osteoporosis
SOX11	Orphanet:1465	Coffin-Siris syndrome
SPTBN1	Orphanet:528084	Non-specific syndromic intellectual disability
TALDO1	Orphanet:101028	Transaldolase deficiency
TYRP1	Orphanet:79433	Oculocutaneous albinism type 3
VPS33B	Orphanet:2697	Arthrogryposis-renal dysfunction-cholestasis syndrome
NPHS2	Orphanet:656	Hereditary steroid-resistant nephrotic syndrome
PRUNE1	Orphanet:544469	PRUNE1-related neurological syndrome
SLC2A9	Orphanet:94088	Hereditary renal hypouricemia
C9	Orphanet:169150	Immunodeficiency due to a late component of complement deficiency
CDH23	Orphanet:231169	Usher syndrome type 1
CDH23	Orphanet:2965	Prolactinoma
CDH23	Orphanet:314777	Familial isolated pituitary adenoma
CDH23	Orphanet:90636	Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
CDH23	Orphanet:91347	TSH-secreting pituitary adenoma
CDH23	Orphanet:96253	Cushing disease
CNTNAP2	Orphanet:163681	CNTNAP2-related developmental and epileptic encephalopathy
CACNA1A	Orphanet:2131	Alternating hemiplegia of childhood
CACNA1A	Orphanet:2382	Lennox-Gastaut syndrome
CACNA1A	Orphanet:442835	Non-specific early-onset epileptic encephalopathy
CACNA1A	Orphanet:569	Familial or sporadic hemiplegic migraine
CACNA1A	Orphanet:71518	Benign paroxysmal torticollis of infancy
CACNA1A	Orphanet:97	Familial paroxysmal ataxia
CACNA1A	Orphanet:98758	Spinocerebellar ataxia type 6
ANLN	Orphanet:656	Hereditary steroid-resistant nephrotic syndrome
ARHGEF10	Orphanet:140481	Autosomal dominant slowed nerve conduction velocity
BCAS3	Orphanet:697067	Global developmental delay-intellectual disability-microcephaly-short stature-brain iron accumulation syndrome
IRX5	Orphanet:314555	Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome
CALM2	Orphanet:101016	Romano-Ward syndrome
CALM2	Orphanet:3286	Catecholaminergic polymorphic ventricular tachycardia
CDCA7	Orphanet:2268	ICF syndrome
PLCB1	Orphanet:293181	Epilepsy of infancy with migrating focal seizures
PLCB1	Orphanet:697160	Infantile epileptic spasms syndrome
ACTN4	Orphanet:656	Hereditary steroid-resistant nephrotic syndrome
ZNF423	Orphanet:2318	Joubert syndrome with oculorenal defect
ZNF423	Orphanet:93591	Infantile nephronophthisis

Cohort genes → proteins

75 cohort genes, 72 distinct canonical proteins.

Evidence partition

Subset	Genes
gwas_only	65
gwas_and_clinvar	2
multi_evidence	8

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
UMOD	HGNC:12559	ENSG00000169344	P07911	Uromodulin	gwas,clinvar
TFCP2L1	HGNC:17925	ENSG00000115112	Q9NZI6	Transcription factor CP2-like protein 1	gwas,clinvar
RREB1	HGNC:10449	ENSG00000124782	Q92766	Ras-responsive element-binding protein 1	gwas
RRM2	HGNC:10452	ENSG00000171848	P31350	Ribonucleoside-diphosphate reductase subunit M2	gwas
ATXN2	HGNC:10555	ENSG00000204842	Q99700	Ataxin-2	gwas
SDCCAG8	HGNC:10671	ENSG00000054282	Q86SQ7	Serologically defined colon cancer antigen 8	gwas
SETDB1	HGNC:10761	ENSG00000143379	Q15047	Histone-lysine N-methyltransferase SETDB1	gwas
SH3BP4	HGNC:10826	ENSG00000130147	Q9P0V3	SH3 domain-binding protein 4	gwas
SH3GL3	HGNC:10832	ENSG00000140600	Q99963	Endophilin-A3	gwas
SLC16A3	HGNC:10924	ENSG00000141526	O15427	Monocarboxylate transporter 4	gwas
SLC22A2	HGNC:10966	ENSG00000112499	O15244	Solute carrier family 22 member 2	gwas
SLC24A4	HGNC:10978	ENSG00000140090	Q8NFF2	Sodium/potassium/calcium exchanger 4	gwas
SLC34A1	HGNC:11019	ENSG00000131183	Q06495	Sodium-dependent phosphate transport protein 2A	gwas
SLC35A3	HGNC:11023	ENSG00000117620	Q9Y2D2	UDP-N-acetylglucosamine transporter	gwas
SLC6A12	HGNC:11045	ENSG00000111181	P48065	Sodium- and chloride-dependent betaine transporter	gwas
SLC6A13	HGNC:11046	ENSG00000010379	Q9NSD5	Sodium- and chloride-dependent GABA transporter 2	gwas
SLC7A9	HGNC:11067	ENSG00000021488	P82251	b(0,+)-type amino acid transporter 1	gwas
NHERF1	HGNC:11075	ENSG00000109062	O14745	Na(+)/H(+) exchange regulatory cofactor NHE-RF1	clinvar
SORT1	HGNC:11186	ENSG00000134243	Q99523	Sortilin	gwas
SOX11	HGNC:11191	ENSG00000176887	P35716	Transcription factor SOX-11	gwas
SP3	HGNC:11208	ENSG00000172845	Q02447	Transcription factor Sp3	gwas
SPTBN1	HGNC:11275	ENSG00000115306	Q01082	Spectrin beta chain, non-erythrocytic 1	gwas
STC1	HGNC:11373	ENSG00000159167	P52823	Stanniocalcin-1	gwas
TALDO1	HGNC:11559	ENSG00000177156	P37837	Transaldolase	gwas
TBX18	HGNC:11595	ENSG00000112837	O95935	T-box transcription factor TBX18	clinvar
TBX2	HGNC:11597	ENSG00000121068	Q13207	T-box transcription factor TBX2	gwas
TFDP2	HGNC:11751	ENSG00000114126	Q14188	Transcription factor Dp-2	gwas
MPPED2	HGNC:1180	ENSG00000066382	Q15777	Metallophosphoesterase MPPED2	gwas
TMOD4	HGNC:11874	ENSG00000163157	Q9NZQ9	Tropomodulin-4	gwas
TNP1	HGNC:11951	ENSG00000118245	P09430	Spermatid nuclear transition protein 1	gwas
TYRP1	HGNC:12450	ENSG00000107165	P17643	5,6-dihydroxyindole-2-carboxylic acid oxidase	gwas
LINC00111	HGNC:1262	ENSG00000227702		long intergenic non-protein coding RNA 111	gwas
LINC00113	HGNC:1264	ENSG00000225298		long intergenic non-protein coding RNA 113	gwas
VEGFA	HGNC:12680	ENSG00000112715	P15692	Vascular endothelial growth factor A, long form	gwas
VPS33B	HGNC:12712	ENSG00000184056	Q9H267	Vacuolar protein sorting-associated protein 33B	gwas
ZNF77	HGNC:13150	ENSG00000175691	Q15935	Zinc finger protein 77	gwas
CST9	HGNC:13261	ENSG00000173335	Q5W186	Cystatin-9	gwas
FIGN	HGNC:13285	ENSG00000182263	Q5HY92	Fidgetin	gwas
NPHS2	HGNC:13394	ENSG00000116218	Q9NP85	Podocin	clinvar
PHTF2	HGNC:13411	ENSG00000006576	Q8N3S3	Protein PHTF2	gwas
PRUNE1	HGNC:13420	ENSG00000143363	Q86TP1	Exopolyphosphatase PRUNE1	gwas
SLC2A9	HGNC:13446	ENSG00000109667	Q9NRM0	Solute carrier family 2, facilitated glucose transporter member 9	gwas
C9	HGNC:1358	ENSG00000113600	P02748	Complement component C9	gwas
VENTXP7	HGNC:13638	ENSG00000236380		VENT homeobox pseudogene 7	gwas
CDH23	HGNC:13733	ENSG00000107736	Q9H251	Cadherin-23	gwas
RGS19	HGNC:13735	ENSG00000171700	P49795	Regulator of G-protein signaling 19	gwas
CNTNAP2	HGNC:13830	ENSG00000174469	Q9UHC6	Contactin-associated protein-like 2	gwas
CACNA1A	HGNC:1388	ENSG00000141837	O00555	Voltage-dependent P/Q-type calcium channel subunit alpha-1A	gwas
CERS2	HGNC:14076	ENSG00000143418	Q96G23	Ceramide synthase 2	gwas
ANLN	HGNC:14082	ENSG00000011426	Q9NQW6	Anillin	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
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…
TFCP2L1	Transcription factor CP2-like protein 1	Transcription factor that facilitates establishment and maintenance of pluripotency in embryonic stem cells (ESCs).
RREB1	Ras-responsive element-binding protein 1	Transcription factor that binds specifically to the RAS-responsive elements (RRE) of gene promoters.
RRM2	Ribonucleoside-diphosphate reductase subunit M2	Provides the precursors necessary for DNA synthesis.
ATXN2	Ataxin-2	Involved in EGFR trafficking, acting as negative regulator of endocytic EGFR internalization at the plasma membrane.
SDCCAG8	Serologically defined colon cancer antigen 8	Plays a role in the establishment of cell polarity and epithelial lumen formation.
SETDB1	Histone-lysine N-methyltransferase SETDB1	Histone methyltransferase that specifically trimethylates ‘Lys-9’ of histone H3 (H3K9me3).
SH3BP4	SH3 domain-binding protein 4	May function in transferrin receptor internalization at the plasma membrane through a cargo-specific control of clathrin-mediated endocytosis.
SH3GL3	Endophilin-A3	Implicated in endocytosis.
SLC16A3	Monocarboxylate transporter 4	Proton-dependent transporter of monocarboxylates such as L-lactate and pyruvate.
SLC22A2	Solute carrier family 22 member 2	Electrogenic voltage-dependent transporter that mediates the transport of a variety of organic cations such as endogenous bioactive amines, cationic drugs and xenobiotics.
SLC24A4	Sodium/potassium/calcium exchanger 4	Calcium, potassium:sodium antiporter that transports 1 Ca(2+) and 1 K(+) in exchange for 4 Na(+).
SLC34A1	Sodium-dependent phosphate transport protein 2A	Involved in actively transporting phosphate into cells via Na(+) cotransport in the renal brush border membrane.
SLC35A3	UDP-N-acetylglucosamine transporter	Transports diphosphate-N-acetylglucosamine (UDP-GlcNAc) from the cytosol into the lumen of the Golgi apparatus, functioning as an antiporter that exchanges UDP-N-acetyl-alpha-D-glucosamine for UMP.
SLC6A12	Sodium- and chloride-dependent betaine transporter	Transporter that mediates cellular uptake of betaine and GABA in a sodium- and chloride-dependent process.
SLC6A13	Sodium- and chloride-dependent GABA transporter 2	Mediates sodium- and chloride-dependent transport of gamma-aminobutyric acid (GABA).
SLC7A9	b(0,+)-type amino acid transporter 1	Associates with SLC3A1 to form a functional transporter complex that mediates the electrogenic exchange between cationic amino acids and neutral amino acids, with a stoichiometry of 1:1.
NHERF1	Na(+)/H(+) exchange regulatory cofactor NHE-RF1	Scaffold protein that connects plasma membrane proteins with members of the ezrin/moesin/radixin family and thereby helps to link them to the actin cytoskeleton and to regulate their surface expression.
SORT1	Sortilin	Functions as a sorting receptor in the Golgi compartment and as a clearance receptor on the cell surface.
SOX11	Transcription factor SOX-11	Transcription factor that acts as a transcriptional activator.
SP3	Transcription factor Sp3	Transcriptional factor that can act as an activator or repressor depending on isoform and/or post-translational modifications.
SPTBN1	Spectrin beta chain, non-erythrocytic 1	Fodrin, which seems to be involved in secretion, interacts with calmodulin in a calcium-dependent manner and is thus candidate for the calcium-dependent movement of the cytoskeleton at the membrane.
STC1	Stanniocalcin-1	Stimulates renal phosphate reabsorption, and could therefore prevent hypercalcemia.
TALDO1	Transaldolase	Catalyzes the rate-limiting step of the non-oxidative phase in the pentose phosphate pathway.
TBX18	T-box transcription factor TBX18	Acts as a transcriptional repressor involved in developmental processes of a variety of tissues and organs, including the heart and coronary vessels, the ureter and the vertebral column.
TBX2	T-box transcription factor TBX2	Transcription factor which acts as a transcriptional repressor.
TFDP2	Transcription factor Dp-2	Can stimulate E2F-dependent transcription.
MPPED2	Metallophosphoesterase MPPED2	Displays low metallophosphoesterase activity (in vitro).
TMOD4	Tropomodulin-4	Blocks the elongation and depolymerization of the actin filaments at the pointed end.
TNP1	Spermatid nuclear transition protein 1	Plays a key role in the replacement of histones to protamine in the elongating spermatids of mammals.
TYRP1	5,6-dihydroxyindole-2-carboxylic acid oxidase	Plays a role in melanin biosynthesis.
VEGFA	Vascular endothelial growth factor A, long form	Participates in the induction of key genes involved in the response to hypoxia and in the induction of angiogenesis such as HIF1A.
VPS33B	Vacuolar protein sorting-associated protein 33B	May play a role in vesicle-mediated protein trafficking to lysosomal compartments and in membrane docking/fusion reactions of late endosomes/lysosomes.
ZNF77	Zinc finger protein 77	May be involved in transcriptional regulation.
CST9	Cystatin-9	May be involved in testis development.
FIGN	Fidgetin	ATP-dependent microtubule severing protein.
NPHS2	Podocin	Plays a role in the regulation of glomerular permeability, acting probably as a linker between the plasma membrane and the cytoskeleton.
PRUNE1	Exopolyphosphatase PRUNE1	Phosphodiesterase (PDE) that has higher activity toward cAMP than cGMP, as substrate.
SLC2A9	Solute carrier family 2, facilitated glucose transporter member 9	High-capacity urate transporter, which may play a role in the urate reabsorption by proximal tubules.
C9	Complement component C9	Pore-forming component of the membrane attack complex (MAC), a multiprotein complex activated by the complement cascade, which inserts into a target cell membrane and forms a pore, leading to target cell membrane rupture and cell lysis.
CDH23	Cadherin-23	Cadherins are calcium-dependent cell adhesion proteins.
RGS19	Regulator of G-protein signaling 19	Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound form.
CNTNAP2	Contactin-associated protein-like 2	Required for gap junction formation.
CACNA1A	Voltage-dependent P/Q-type calcium channel subunit alpha-1A	Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene exp…
CERS2	Ceramide synthase 2	Ceramide synthase that catalyzes the transfer of the acyl chain from acyl-CoA to a sphingoid base, with high selectivity toward very-long-chain fatty acyl-CoA (chain length C22-C27).
ANLN	Anillin	Required for cytokinesis.
ARHGEF10	Rho guanine nucleotide exchange factor 10	May play a role in developmental myelination of peripheral nerves.
BCAS3	BCAS3 microtubule associated cell migration factor	Plays a role in angiogenesis.
IRX3	Iroquois-class homeodomain protein IRX-3	Transcription factor involved in SHH-dependent neural patterning.
IRX5	Iroquois-class homeodomain protein IRX-5	Establishes the cardiac repolarization gradient by its repressive actions on the KCND2 potassium-channel gene.

Protein-family classification

Druggable: 13 · Difficult: 24 · Unknown: 38 · Druggable fraction: 0.17

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
Transporter	4	4.2×	0.101
Scaffold/PPI	9	2.1×	0.101
Transcription factor	15	1.6×	0.101
Complement	1	3.6×	0.551
Ion channel	1	1.5×	0.885
Other/Unknown	38	0.9×	0.937
Antibody/Immunoglobulin	2	0.8×	0.937
Enzyme (other)	4	0.6×	0.937
Kinase	1	0.4×	0.937

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
UMOD	Other/Unknown	no		EGF-type_Asp/Asn_hydroxyl_site, EGF, ZP_dom
TFCP2L1	Transcription factor	no		CP2, SAM/pointed_sf, TFCP2L1_SAM
RREB1	Transcription factor	no		Znf_C2H2_type, Znf_C2H2_sf, RREB1
RRM2	Enzyme (other)	yes	1.17.4.1	RNR_small_fam, Ferritin-like_SF, RNR-like
ATXN2	Other/Unknown	no		LsmAD_domain, PAM2_motif, LSM_dom_sf
SDCCAG8	Other/Unknown	no		SDCCAG8
SETDB1	Enzyme (other)	yes	2.1.1.355	SET_dom, Methyl_CpG_DNA-bd, Tudor
SH3BP4	Scaffold/PPI	no		ZU5_dom, SH3_domain, SH3BP4_SH3
SH3GL3	Scaffold/PPI	no		SH3_domain, BAR_dom, AH/BAR_dom_sf
SLC16A3	Transporter	yes		MCT, MFS, MFS_dom
SLC22A2	Transporter	yes		Orgcat_transp/SVOP, MFS_sugar_transport-like, Sugar_transporter_CS
SLC24A4	Other/Unknown	no		K/Na/Ca-exchanger, NaCa_Exmemb, NCX_ion-bd_dom_sf
SLC34A1	Other/Unknown	no		Na/Pi_transpt
SLC35A3	Other/Unknown	no		Nuc_sug_transpt, EmrE-like
SLC6A12	Other/Unknown	no		Na/ntran_symport, Na/ntran_symport_betaine, SNS_sf
SLC6A13	Other/Unknown	no		Na/ntran_symport, Na/ntran_symport_GABA_GAT2, SNS_sf
SLC7A9	Transporter	yes		AA/rel_permease1, AminoAcid_Transporter
NHERF1	Scaffold/PPI	no		PDZ, EBP50_C, NHERF-1/NHERF-2
SORT1	Scaffold/PPI	no		VPS10, WD40/YVTN_repeat-like_dom_sf, Sortilin_C
SOX11	Transcription factor	no		HMG_box_dom, SOX-12/11/4, HMG_box_dom_sf
SP3	Transcription factor	no		Znf_C2H2_type, Znf_C2H2_sf
SPTBN1	Scaffold/PPI	no		Actinin_actin-bd_CS, PH_dom-spectrin-type, CH_dom
STC1	Other/Unknown	no		Stanniocalcin
TALDO1	Other/Unknown	no		TAL/FSA, Transaldolase_1, Aldolase_TIM
TBX18	Transcription factor	no		TF_T-box, p53-like_TF_DNA-bd_sf, TF_T-box_CS
TBX2	Transcription factor	no		TF_T-box, TF_Brachyury, p53-like_TF_DNA-bd_sf
TFDP2	Transcription factor	no		E2F_WHTH_DNA-bd_dom, Transc_factor_DP_C, Transcrpt_fac_DP
MPPED2	Other/Unknown	no		Calcineurin-like_PHP, Calcineurin-like_Pesterase, Metallo-depent_PP-like
TMOD4	Other/Unknown	no		TMOD, LRR_dom_sf
TNP1	Other/Unknown	no		Nuclear_transition_prot1, Nuclear_transition_prot1_CS
TYRP1	Other/Unknown	no		Tyrosinase_Cu-bd, Di-copper_centre_dom_sf, Tyrosinase/Hemocyanin
LINC00111	Other/Unknown	no
LINC00113	Other/Unknown	no
VEGFA	Other/Unknown	no		PDGF/VEGF_dom, PD_growth_factor_CS, VEGF_C
VPS33B	Other/Unknown	no		Sec1-like, Sec1-like_dom2, Sec1-like_sf
ZNF77	Transcription factor	no		KRAB, Znf_C2H2_type, KRAB_dom_sf
CST9	Other/Unknown	no		CST9-like, Cystatin_sf
FIGN	Other/Unknown	no		AAA+_ATPase, ATPase_AAA_core, ATPase_AAA_CS
NPHS2	Other/Unknown	no		Band_7, Stomatin_HflK_fam, Band_7/stomatin-like_CS
PHTF2	Other/Unknown	no		PHTF1/2_N, PHTF1/2
PRUNE1	Other/Unknown	no		DDH_dom, DHHA2, DHHA2_dom_sf
SLC2A9	Transporter	yes		Sugar/inositol_transpt, MFS_sugar_transport-like, Sugar_transporter_CS
C9	Complement	yes		TSP1_rpt, MAC_perforin, LDrepeatLR_classA_rpt
VENTXP7	Other/Unknown	no
CDH23	Other/Unknown	no		Cadherin-like_dom, Cadherin-like_sf, Cadherin_CS
RGS19	Other/Unknown	no		RGS, RGS_subdom1/3, RGS_sf
CNTNAP2	Other/Unknown	no		FA58C, EGF, Laminin_G
CACNA1A	Ion channel	yes		VDCCAlpha1, CACNA1A, Ion_trans_dom
CERS2	Transcription factor	no	2.3.1.24	HD, TLC-dom, Homeodomain-like_sf
ANLN	Scaffold/PPI	no		PH_domain, PH-like_dom_sf, AHD

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)	1
moderate (6-20)	0
broad (>20)	74
unknown	0

Top tissues across cohort

Tissue	Cohort genes
buccal mucosa cell	7
ventricular zone	7
endothelial cell	5
adult mammalian kidney	4
adult organism	4
secondary oocyte	4
monocyte	4
sural nerve	4
kidney epithelium	4
Brodmann (1909) area 23	4
renal medulla	3
oocyte	3
calcaneal tendon	3
corpus callosum	3
mononuclear cell	3
stromal cell of endometrium	3
nephron tubule	3
right lobe of liver	3
inferior vagus X ganglion	3
cortical plate	3

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
UMOD	104	tissue_specific	marker	renal medulla, adult organism, adult mammalian kidney
TFCP2L1	209	broad	marker	parotid gland, saliva-secreting gland, minor salivary gland
RREB1	278	ubiquitous	marker	buccal mucosa cell, epithelium of nasopharynx, oral cavity
RRM2	233	ubiquitous	marker	secondary oocyte, oocyte, ventricular zone
ATXN2	286	ubiquitous	marker	buccal mucosa cell, colonic epithelium, olfactory bulb
SDCCAG8	134	ubiquitous	marker	corpus callosum, calcaneal tendon, thyroid gland
SETDB1	269	ubiquitous	marker	sural nerve, monocyte, mononuclear cell
SH3BP4	274	ubiquitous	marker	parotid gland, trachea, mucosa of paranasal sinus
SH3GL3	209	broad	marker	sperm, middle frontal gyrus, male germ cell
SLC16A3	279	ubiquitous	marker	stromal cell of endometrium, monocyte, mononuclear cell
SLC22A2	108	tissue_specific	marker	adult mammalian kidney, nephron tubule, renal medulla
SLC24A4	168	broad	marker	monocyte, leukocyte, primary visual cortex
SLC34A1	52	tissue_specific	marker	nephron tubule, adult mammalian kidney, kidney epithelium
SLC35A3	287	ubiquitous	marker	mucosa of sigmoid colon, jejunal mucosa, colonic mucosa
SLC6A12	176	broad	marker	metanephros cortex, right lobe of liver, putamen
SLC6A13	204	tissue_specific	marker	pigmented layer of retina, renal medulla, adult organism
SLC7A9	173	tissue_specific	marker	ileal mucosa, secondary oocyte, jejunal mucosa
NHERF1	284	ubiquitous	marker	granulocyte, lower esophagus mucosa, esophagus mucosa
SORT1	291	ubiquitous	marker	inferior vagus X ganglion, corpus epididymis, subthalamic nucleus
SOX11	93	broad	marker	ganglionic eminence, cortical plate, embryo
SP3	299	ubiquitous	marker	hair follicle, germinal epithelium of ovary, sural nerve
SPTBN1	295	ubiquitous	marker	endothelial cell, trigeminal ganglion, skin of hip
STC1	229	ubiquitous	marker	pericardium, vena cava, buccal mucosa cell
TALDO1	294	ubiquitous	marker	trabecular bone tissue, blood, gingival epithelium
TBX18	162	ubiquitous	marker	right coronary artery, popliteal artery, tibial artery
TBX2	236	ubiquitous	marker	right lung, right coronary artery, upper lobe of left lung
TFDP2	276	ubiquitous	marker	calcaneal tendon, left testis, right testis
MPPED2	255	broad	marker	ventricular zone, ganglionic eminence, cortical plate
TMOD4	176	tissue_specific	yes	vastus lateralis, quadriceps femoris, skeletal muscle tissue of rectus abdominis
TNP1	150	tissue_specific	marker	sperm, male germ cell, adult organism

Protein interactions among cohort

Intra-cohort edges: 14.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
ANLN	6,413
SETDB1	4,796
TALDO1	3,738
RRM2	3,546
SLC34A1	3,362
ATXN2	3,360
ACTN4	3,303
DHX35	2,955
SOX17	2,772
TYRP1	2,635

Intra-cohort edges

A	B	Sources
ACTN4	ANLN	biogrid_interaction, string_interaction
ACTN4	NPHS2	string_interaction
ANLN	RRM2	string_interaction
ATXN2	SH3GL3	intact, string_interaction
BCAS3	SLC2A9	string_interaction
BCAS3	TBX2	string_interaction
CDCA7	SP3	string_interaction
IRX3	IRX5	string_interaction
NAT8	SLC7A9	string_interaction
NHERF1	SLC34A1	string_interaction
PDZRN3	PLCB1	intact
SLC24A4	TYRP1	string_interaction
SLC34A1	SLC7A9	string_interaction
SLC34A1	STC1	string_interaction

Structural data

PDB: 36 · AlphaFold-only: 36 · No structure: 3

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
VEGFA	P15692	56
SETDB1	Q15047	26
NHERF1	O14745	22
CALM2	P0DP24	21
SORT1	Q99523	17
TYRP1	P17643	13
UMOD	P07911	10
C9	P02748	9
SLC2A9	Q9NRM0	7
CDH23	Q9H251	6
SLC13A3	Q8WWT9	6
RRM2	P31350	5
ACTN4	O43707	5
SLC7A9	P82251	4
SOX11	P35716	4
CACNA1A	O00555	4
SLC6A12	P48065	3
SPTBN1	Q01082	3
ANLN	Q9NQW6	3
CDON	Q4KMG0	3
SH3GL3	Q99963	2
CDCA7	Q9BWT1	2
KCTD12	Q96CX2	2
PASK	Q96RG2	2
LRIG1	Q96JA1	2
PDZRN3	Q9UPQ7	2
SOX17	Q9H6I2	2
ATXN2	Q99700	1
SLC22A2	O15244	1
TALDO1	P37837	1

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
MPPED2	Q15777	95.43
VPS33B	Q9H267	91.82
NAT8	Q9UHE5	91.79
SLC35A3	Q9Y2D2	89.31
SLC6A13	Q9NSD5	89.18
CERS2	Q96G23	87.31
DHX35	Q9H5Z1	86.94
TMOD4	Q9NZQ9	86.28
PRUNE1	Q86TP1	85.61
PLCB1	Q9NQ66	84.55
LMAN2	Q12907	84.45
SLC16A3	O15427	83.62
TFCP2L1	Q9NZI6	79.32
STC1	P52823	78.81
SDCCAG8	Q86SQ7	78.67
CDH8	P55286	77.26
NPHS2	Q9NP85	75.00
RAI14	Q9P0K7	72.80
SLC34A1	Q06495	72.24
SLC24A4	Q8NFF2	70.84
SH3BP4	Q9P0V3	70.15
ZNF77	Q15935	68.67
BNIPL	Q7Z465	68.67
CST9	Q5W186	68.21
ARHGEF10	O15013	65.56
BCAS3	Q9H6U6	65.25
FIGN	Q5HY92	62.06
TNP1	P09430	61.97
TBX18	O95935	61.09
PHTF2	Q8N3S3	60.23

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 646. Enrichment computed across 250 evidence-associated genes (143 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 143 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Fibronectin matrix formation	5	20.0×	0.002	COL4A1, COL4A3, COL4A4, COL4A5, FN1
Attachment of bacteria to epithelial cells	5	17.4×	0.002	COL4A1, COL4A3, COL4A4, COL4A5, FN1
Collagen chain trimerization	6	10.9×	0.002	COL4A1, COL4A3, COL4A4, COL4A5, COL6A3, COL6A5
Signaling by PDGF	6	10.7×	0.002	COL4A1, COL4A3, COL4A4, COL4A5, COL6A3, COL6A5
NCAM1 interactions	6	10.4×	0.002	COL4A1, COL4A3, COL4A4, COL4A5, COL6A3, COL6A5
R-HSA-425366	7	8.9×	0.002	SLC16A3, SLC22A2, SLC6A12, SLC6A13, SLC13A3, SLC13A5, SLC47A1
Collagen biosynthesis and modifying enzymes	7	8.3×	0.002	ADAMTS3, COL4A1, COL4A3, COL4A4, COL4A5, COL6A3, COL6A5
Anchoring fibril formation	4	21.3×	0.002	COL4A1, COL4A3, COL4A4, COL4A5
ECM proteoglycans	7	7.4×	0.003	COL4A1, COL4A3, COL4A4, COL4A5, COL6A3, COL6A5, FN1
Assembly of collagen fibrils and other multimeric structures	6	8.4×	0.005	COL4A1, COL4A3, COL4A4, COL4A5, COL6A3, COL6A5
Crosslinking of collagen fibrils	4	16.0×	0.005	COL4A1, COL4A3, COL4A4, COL4A5
Integrin cell surface interactions	7	6.6×	0.005	COL4A1, COL4A3, COL4A4, COL4A5, COL6A3, COL6A5, FN1
Collagen degradation	6	7.4×	0.007	COL4A1, COL4A3, COL4A4, COL4A5, COL6A3, COL6A5
SLC-mediated transmembrane transport	10	4.1×	0.007	SLC16A3, SLC22A2, SLC24A4, SLC35A3, SLC6A12, SLC6A13, SLC7A9, SLC13A3 (+2 more)
Transport of small molecules	16	2.8×	0.008	SLC16A3, SLC22A2, SLC24A4, SLC35A3, SLC6A12, SLC6A13, SLC7A9, SLC13A3 (+8 more)
Regulation of Complement cascade	5	8.2×	0.014	C9, CFHR5, CFH, CFHR1, CFI
SLC-mediated transport of organic anions	2	53.2×	0.018	SLC13A3, SLC13A5
Laminin interactions	4	10.7×	0.018	COL4A1, COL4A3, COL4A4, COL4A5
Transmission across Chemical Synapses	8	4.3×	0.020	SLC22A2, SLC6A12, SLC6A13, CACNA1A, ADCY5, ADCY8, HTR3A, HTR3B
Sensory processing of sound by outer hair cells of the cochlea	5	7.1×	0.021	SPTBN1, CDH23, OTOGL, EPB41L3, MYH9
Reuptake of GABA	2	39.9×	0.028	SLC6A12, SLC6A13
Hedgehog ‘off’ state	5	6.2×	0.036	ADCY5, ADCY8, TTC21B, IFT172, MKS1
Sodium-coupled sulphate, di- and tri-carboxylate transporters	2	31.9×	0.041	SLC13A3, SLC13A5
HDL clearance	2	31.9×	0.041	CUBN, APOA1
PLC beta mediated events	4	7.4×	0.051	PLCB1, ADCY5, ADCY8, PLCB2
Non-integrin membrane-ECM interactions	5	5.4×	0.057	COL4A1, COL4A3, COL4A4, COL4A5, FN1
Nephrin family interactions	3	10.0×	0.077	SPTBN1, NPHS2, ACTN4
Fatty Acids bound to GPR40 (FFAR1) regulate insulin secretion	2	20.0×	0.089	PLCB1, PLCB2
Neurotransmitter release cycle	3	9.2×	0.089	SLC22A2, SLC6A12, SLC6A13
Sensory Perception	6	4.0×	0.089	SPTBN1, CDH23, ABCA4, APOA1, LRP2, 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 216 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
peptidyl-lysine N6-acetylation	2	78.0×	0.071	NAT8, NAT8B
citrate transport	2	52.0×	0.071	SLC13A3, SLC13A5
putrescine transport	2	52.0×	0.071	SLC22A2, SLC47A1
lymph vessel morphogenesis	2	52.0×	0.071	VEGFA, PKD1
mammary placode formation	2	52.0×	0.071	TBX2, NRG3
common bile duct development	2	52.0×	0.071	SOX17, MKS1
obsolete cytolysis by host of symbiont cells	3	29.3×	0.071	CFHR5, CFHR1, APOL1
monocarboxylic acid transport	3	21.3×	0.071	SLC16A3, SLC6A12, SLC6A13
intracellular phosphate ion homeostasis	3	21.3×	0.071	UMOD, SLC34A1, NHERF1
complement activation	4	11.6×	0.071	C9, CFHR5, CFH, CFHR1
collagen fibril organization	6	6.2×	0.071	VPS33B, ADAMTS3, COL4A1, COL4A3, COL4A4, COL4A5
collagen-activated tyrosine kinase receptor signaling pathway	3	18.0×	0.072	COL4A1, COL4A3, COL4A5
calcium-independent cell-matrix adhesion	2	39.0×	0.073	FN1, PKD1
gamma-aminobutyric acid reuptake	2	39.0×	0.073	SLC6A12, SLC6A13
regulation of glucagon secretion	2	39.0×	0.073	PASK, IL6
protein localization to juxtaparanode region of axon	2	39.0×	0.073	CNTNAP2, EPB41L3
metanephric ascending thin limb development	2	39.0×	0.073	UMOD, PKD1
embryonic camera-type eye morphogenesis	3	15.6×	0.073	SP3, TBX2, IFT172
renal water homeostasis	4	9.5×	0.073	UMOD, ADCY5, ADCY8, AQP4
kidney development	7	4.5×	0.073	SLC34A1, SOX11, VEGFA, HAS2, LRP2, OVOL1, PKD1
homophilic cell-cell adhesion	7	4.5×	0.073	CDH23, CDH8, AMIGO1, MYPN, TENM3, DSCAM, PKD1
amino acid import across plasma membrane	3	14.6×	0.075	SLC22A2, SLC6A13, SLC47A1
complement activation, alternative pathway	3	13.8×	0.086	C9, CFHR5, CFH
negative regulation of cell adhesion molecule production	2	31.2×	0.098	APOA1, CXCL8
L-arginine import across plasma membrane	2	31.2×	0.098	SLC22A2, SLC47A1
serotonin-gated cation-selective signaling pathway	2	31.2×	0.098	HTR3A, HTR3B
amino acid catabolic process	2	26.0×	0.108	ETFA, ETFB
ERBB4 signaling pathway	2	26.0×	0.108	NRG1, NRG3
gamma-aminobutyric acid import	2	26.0×	0.108	SLC6A13, NHERF1
endocardial cell differentiation	2	26.0×	0.108	SOX17, NRG1

Therapeutics

Drugs indicated for this disease

38 approved, 65 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

Drug	Development status
Ascorbic Acid	Approved (phase 4)
Biotin	Approved (phase 4)
Calcitriol	Approved (phase 4)
Calcium Acetate	Approved (phase 4)
Chlorothiazide	Approved (phase 4)
Chlorthalidone	Approved (phase 4)
Cyanocobalamin	Approved (phase 4)
Dapagliflozin	Approved (phase 4)
Daprodustat	Approved (phase 4)
Darbepoetin Alfa	Approved (phase 4)
Doxercalciferol	Approved (phase 4)
Empagliflozin	Approved (phase 4)
Epoetin Alfa	Approved (phase 4)
Epoetin Beta	Approved (phase 4)
Epoetin Delta	Approved (phase 4)
Epoetin Theta	Approved (phase 4)
Epoetin Zeta	Approved (phase 4)
Ferric Oxyhydroxide	Approved (phase 4)
Ferric Pyrophosphate Citrate	Approved (phase 4)
Ferumoxytol	Approved (phase 4)
Finerenone	Approved (phase 4)
Folic Acid	Approved (phase 4)
Hydrochlorothiazide	Approved (phase 4)
Irbesartan	Approved (phase 4)
Iron Sucrose	Approved (phase 4)
Lanthanum Carbonate	Approved (phase 4)
Levocarnitine	Approved (phase 4)
Methoxy Polyethylene Glycol-Epoetin Beta	Approved (phase 4)
Niacin	Approved (phase 4)
Pantothenic Acid	Approved (phase 4)
Paricalcitol	Approved (phase 4)
Pyridoxine	Approved (phase 4)
Riboflavin	Approved (phase 4)
Roxadustat	Approved (phase 4)
Sevelamer Hydrochloride	Approved (phase 4)
Somatropin	Approved (phase 4)
Sotagliflozin	Approved (phase 4)
Vadadustat	Approved (phase 4)
Acetylcysteine	Phase 3 (in late-stage trials)
Angiotensin	Phase 3 (in late-stage trials)
Aspirin	Phase 3 (in late-stage trials)
Atorvastatin	Phase 3 (in late-stage trials)
Azathioprine	Phase 3 (in late-stage trials)
Belatacept	Phase 3 (in late-stage trials)
Bortezomib	Phase 3 (in late-stage trials)
Carvedilol	Phase 3 (in late-stage trials)
Charcoal, Activated	Phase 3 (in late-stage trials)
Cholecalciferol	Phase 3 (in late-stage trials)
Cinacalcet	Phase 3 (in late-stage trials)
Clopidogrel	Phase 3 (in late-stage trials)
Colestilan Chloride	Phase 3 (in late-stage trials)
Corn Oil	Phase 3 (in late-stage trials)
Curcumin	Phase 3 (in late-stage trials)
Cyclosporine	Phase 3 (in late-stage trials)
Daclizumab	Phase 3 (in late-stage trials)
Dalteparin Sodium	Phase 3 (in late-stage trials)
Desidustat	Phase 3 (in late-stage trials)
Dexamethasone	Phase 3 (in late-stage trials)
Dextrose	Phase 3 (in late-stage trials)
Enarodustat	Phase 3 (in late-stage trials)
Eplerenone	Phase 3 (in late-stage trials)
Ergocalciferol	Phase 3 (in late-stage trials)
Everolimus	Phase 3 (in late-stage trials)
Fentanyl	Phase 3 (in late-stage trials)
Fermagate	Phase 3 (in late-stage trials)
Ferric Derisomaltose	Phase 3 (in late-stage trials)
Flurandrenolide	Phase 3 (in late-stage trials)
Glipizide	Phase 3 (in late-stage trials)
Heparin	Phase 3 (in late-stage trials)
Heparin Sodium	Phase 3 (in late-stage trials)
Hepatitis B Virus Vaccine Inactivated	Phase 3 (in late-stage trials)
Human Immunoglobulin G	Phase 3 (in late-stage trials)
IRON ISOMALTOSIDE 1000	Phase 3 (in late-stage trials)
Losartan	Phase 3 (in late-stage trials)
Medronic Acid	Phase 3 (in late-stage trials)
Methadone	Phase 3 (in late-stage trials)
Methylprednisolone	Phase 3 (in late-stage trials)
Mycophenolate Mofetil	Phase 3 (in late-stage trials)
Niacinamide	Phase 3 (in late-stage trials)
OMEGA-3 FATTY ACIDS	Phase 3 (in late-stage trials)
Ocedurenone	Phase 3 (in late-stage trials)
Patiromer	Phase 3 (in late-stage trials)
Pentoxifylline	Phase 3 (in late-stage trials)
Prasugrel	Phase 3 (in late-stage trials)
Pravastatin	Phase 3 (in late-stage trials)
Prednisone	Phase 3 (in late-stage trials)
Ramipril	Phase 3 (in late-stage trials)
Relmapirazin	Phase 3 (in late-stage trials)
Resveratrol	Phase 3 (in late-stage trials)
Sevelamer	Phase 3 (in late-stage trials)
Silver Nitrate	Phase 3 (in late-stage trials)
Simvastatin	Phase 3 (in late-stage trials)
Sirolimus	Phase 3 (in late-stage trials)
Sitagliptin	Phase 3 (in late-stage trials)
Sodium Bicarbonate	Phase 3 (in late-stage trials)
Spironolactone	Phase 3 (in late-stage trials)
Sulodexide	Phase 3 (in late-stage trials)
Tacrolimus Anhydrous	Phase 3 (in late-stage trials)
Telmisartan	Phase 3 (in late-stage trials)
Testosterone	Phase 3 (in late-stage trials)
Ticagrelor	Phase 3 (in late-stage trials)
Ubidecarenone	Phase 3 (in late-stage trials)
Vonapanitase	Phase 3 (in late-stage trials)

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Alcohol, Alemtuzumab, Allopurinol, Anakinra, Apixaban, Atrasentan, Balcinrenone, Bardoxolone Methyl, Baricitinib, Basiliximab, Beraprost, Bumetanide, Calcium Carbonate, Colchicine, Daclatasvir, Dasatinib Anhydrous, Drotrecogin Alfa (Activated), Dulaglutide, Eculizumab, Ertapenem, Escitalopram, Etanercept, Fenoldopam, Fish Oil, Furosemide, Icodextrin, Icosapent, Iloprost, Imlifidase, Isoflavone, Ixazomib, Lipoic Acid, Alpha, Metformin, Methylcellulose, Metolazone, Milk Thistle, Mycophenolic Acid, Nifedipine, OMEGA-3-ACID ETHYL ESTERS, Perflutren, Phytonadione, Pioglitazone, Pirfenidone, Prednisolone, Propolis Wax, Quercetin, Rituximab, Sapropterin, Simeprevir, Sitaxentan, Sodium Chloride, Sulforaphane, Tabalumab, Thymalfasin, Tirzepatide, Tolvaptan, Valsartan, Vancomycin, Vitamin E, Xylitol, Zibotentan, Zinc Sulfate.

Drug target analysis

Approved (phase 4): 6 · Phase ≥3: 9 · Phased (≥1): 16 · Undrugged: 59

Druggability breadth: 94 of 250 evidence-associated genes (38%) 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
SLC22A2	PROGESTERONE
SLC34A1	SODIUM PHOSPHATE, DIBASIC, ANHYDROUS
VEGFA	VADADUSTAT
PRUNE1	DIPYRIDAMOLE
CACNA1A	NIMODIPINE
CERS2	FINGOLIMOD

Top cohort targets by molecule count

Symbol	Molecules	Max phase
SLC22A2	47	4
VEGFA	5	4
SLC16A3	4	2
SLC34A1	2	4
CACNA1A	2	4
RRM2	1	3
SLC6A12	1	1
SLC6A13	1	1
SORT1	1	3
SPTBN1	1	2

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
PROGESTERONE	4	SLC22A2
IMIPRAMINE	4	SLC22A2
EPINASTINE	4	SLC22A2
VECURONIUM BROMIDE	4	SLC22A2
DOLUTEGRAVIR	4	SLC22A2
PIMOZIDE	4	SLC22A2
PANTOPRAZOLE	4	SLC22A2
RITONAVIR	4	SLC22A2
QUININE	4	SLC22A2
PHENFORMIN	4	SLC22A2
DIHYDROERGOTAMINE	4	SLC22A2
PRAZOSIN	4	SLC22A2
DOMPERIDONE	4	SLC22A2
GRANISETRON	4	SLC22A2
BITHIONOL	4	SLC22A2
CIMETIDINE	4	SLC22A2
TUBOCURARINE	4	SLC22A2
NOSCAPINE	4	SLC22A2
BICTEGRAVIR	4	SLC22A2
ONDANSETRON	4	SLC22A2
IRINOTECAN	4	SLC22A2
BUSPIRONE	4	SLC22A2
DISOPYRAMIDE	4	SLC22A2
PENTAMIDINE	4	SLC22A2
MITOXANTRONE	4	SLC22A2
ZAFIRLUKAST	4	SLC22A2
PROCAINAMIDE	4	SLC22A2
AMANTADINE	4	SLC22A2
ETHINYL ESTRADIOL	4	SLC22A2
DESIPRAMINE	4	SLC22A2

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 5.

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

Symbol	Assays	Type breakdown
PASK	199	Binding:198, Functional:1
SLC22A2	101	Functional:62, ADMET:21, Binding:18
SETDB1	65	Binding:64, ADMET:1
VEGFA	64	Binding:64
SLC16A3	58	Binding:53, Functional:5
SLC6A12	50	Binding:48, Functional:2
RRM2	37	Binding:34, Functional:3
CACNA1A	19	Binding:18, Functional:1
SORT1	17	Binding:15, ADMET:2
SLC6A13	15	Binding:15
SLC2A9	13	Binding:11, Functional:2
KCTD12	12	Binding:12
PLCB1	11	Binding:9, Functional:2
SLC34A1	8	Binding:7, Functional:1
DHX35	8	Binding:8
SPTBN1	7	Binding:7
ACTN4	7	Binding:7
ATXN2	5	Binding:3, Functional:2
NHERF1	5	Binding:5
CERS2	4	Binding:4
SLC13A3	4	Binding:3, Functional:1
TYRP1	3	Binding:3
PRUNE1	3	Binding:3
TFDP2	2	Binding:2
SLC24A4	1	Functional:1
TALDO1	1	Binding:1
C9	1	Binding:1
RGS19	1	Binding:1
CALM2	1	Binding:1
LMAN2	1	Binding:1
SOX17	1	Binding:1

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
RRM2	1.17.4.1	ribonucleoside-diphosphate reductase
SETDB1	2.1.1.355, 2.1.1.366, 2.1.1.368	[histone H3]-lysine9 N-trimethyltransferase, [histone H3]-N6,N6-dimethyl-lysine9 N-methyltransferase, [histone H3]-lysine9 N-dimethyltransferase
CERS2	2.3.1.24, 2.3.1.297	sphingosine N-acyltransferase, very-long-chain ceramide synthase
PLCB1	3.1.4.11	phosphoinositide phospholipase C
NAT8	2.3.1.80	cysteine-S-conjugate N-acetyltransferase

Cohort genes with high screening signal

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

Symbol	ChEMBL assays
SLC22A2	101
PASK	199

Pharmacogenomics

Cohort genes with a PharmGKB record: 75; 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)
PROGESTERONE	4	SLC22A2
IMIPRAMINE	4	SLC22A2
EPINASTINE	4	SLC22A2
VECURONIUM BROMIDE	4	SLC22A2
DOLUTEGRAVIR	4	SLC22A2
PIMOZIDE	4	SLC22A2
PANTOPRAZOLE	4	SLC22A2
RITONAVIR	4	SLC22A2
QUININE	4	SLC22A2
PHENFORMIN	4	SLC22A2
DIHYDROERGOTAMINE	4	SLC22A2
PRAZOSIN	4	SLC22A2
DOMPERIDONE	4	SLC22A2
GRANISETRON	4	SLC22A2
BITHIONOL	4	SLC22A2
CIMETIDINE	4	SLC22A2
TUBOCURARINE	4	SLC22A2
NOSCAPINE	4	SLC22A2
BICTEGRAVIR	4	SLC22A2
ONDANSETRON	4	SLC22A2
IRINOTECAN	4	SLC22A2
BUSPIRONE	4	SLC22A2
DISOPYRAMIDE	4	SLC22A2
PENTAMIDINE	4	SLC22A2
MITOXANTRONE	4	SLC22A2
ZAFIRLUKAST	4	SLC22A2
PROCAINAMIDE	4	SLC22A2
AMANTADINE	4	SLC22A2
ETHINYL ESTRADIOL	4	SLC22A2
DESIPRAMINE	4	SLC22A2

Druggability pyramid

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

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	6	SLC22A2, SLC34A1, VEGFA, PRUNE1, CACNA1A, CERS2
B	Phased (≥1) drug, not yet approved	10	RRM2, SLC16A3, SLC6A12, SLC6A13, SORT1, SPTBN1, SLC2A9, DHX35, ACTN4, PASK
C	Druggable family + PDB, no drug	5	SETDB1, SLC7A9, C9, CDON, LRIG1
D	Druggable family + AlphaFold only, no drug	2	PLCB1, NAT8
E	Difficult family or no structure, no drug	52	UMOD, TFCP2L1, RREB1, ATXN2, SDCCAG8, SH3BP4, SH3GL3, SLC24A4, SLC35A3, NHERF1 (+42 more)

Undrugged target profiles

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

Symbol	ChEMBL assays	Drugged partners (top 3)
STC1	0	SLC34A1
UMOD	0	—
TFCP2L1	0	—
RREB1	0	—
ATXN2	5	—
SDCCAG8	0	—
SETDB1	65	—
SH3BP4	0	—
SH3GL3	0	—
SLC24A4	1	—
SLC35A3	0	—
SLC7A9	0	—
NHERF1	5	—
SOX11	0	—
SP3	0	—
TALDO1	1	—
TBX18	0	—
TBX2	0	—
TFDP2	2	—
MPPED2	0	—
TMOD4	0	—
TNP1	0	—
TYRP1	3	—
LINC00111	0	—
LINC00113	0	—
VPS33B	0	—
ZNF77	0	—
CST9	0	—
FIGN	0	—
NPHS2	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 2,033.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	379
PHASE4	195
PHASE2	183
PHASE3	172
PHASE1	108
PHASE1/PHASE2	28
PHASE2/PHASE3	21
EARLY_PHASE1	14

Top trials by phase / activity

NCT	Phase	Status	Title
NCT03055598	PHASE4	ACTIVE_NOT_RECRUITING	Ferric Citrate in ESRD Pilot Project
NCT03471117	PHASE4	RECRUITING	Pioglitazone to Reduce Sympathetic Overactivity in CKD Patients
NCT03826147	PHASE4	ACTIVE_NOT_RECRUITING	Nitrite-boosting Therapy for Improving Physiological Function in Patients With Chronic Kidney Disease
NCT03982160	PHASE4	RECRUITING	L-arginine to Reduce Sympathetic Nerve Activity in CKD Patients
NCT03991169	PHASE4	RECRUITING	Oral Iron in Children With Chronic Kidney Disease
NCT04297592	PHASE4	ENROLLING_BY_INVITATION	Antibiotic Prophylaxis in High-Risk Arthroplasty Patients
NCT04522622	PHASE4	RECRUITING	Treatment of Adynamic Bone Disorder With Parathyroid Hormone in Chronic Kidney Disease
NCT05515367	PHASE4	RECRUITING	A Post Marketing Surveillance to Evaluate the Safety of Desidustat for the Treatment of Anemia in Subjects With Chronic Kidney Disease (CKD).(Real World Evidence Study)
NCT05557370	PHASE4	ACTIVE_NOT_RECRUITING	Immunogenicity of HPV Vaccine in Transplant Recipients.
NCT05846490	PHASE4	RECRUITING	Impact of Obstructive Sleep Apnea (OSA) Treatment on Blood Pressure Control in Chronic Kidney Disease
NCT05887817	PHASE4	ACTIVE_NOT_RECRUITING	Effects of Finerenone on Vascular Stiffness and Cardiorenal Biomarkers in T2D and CKD (FIVE-STAR)
NCT05942027	PHASE4	RECRUITING	Role of Coenzyme Q10 in Chronic Kidney Disease
NCT05942053	PHASE4	RECRUITING	Role of Vitamin K2 in Chronic Kidney Disease
NCT06013865	PHASE4	RECRUITING	Empagliflozin Treatment in Kidney Transplant Recipients
NCT06110130	PHASE4	RECRUITING	Effect of Empagliflozin on Podocyte Specific Proteins in African American Veterans With NDKD
NCT06256991	PHASE4	RECRUITING	Potassium Correction for RAAS Optimization in Chronic Kidney Disease
NCT06396416	PHASE4	RECRUITING	Obesity Management for Kidney TRANSPLANTation: OK-TRANSPLANT 2
NCT06402851	PHASE4	RECRUITING	Vitamin K AntagonISt, Factor Xa Inhibitor or No Anticoagulation in Atrial Fibrillation and DIalytic End-stage Renal DiseasE (VISIONAIRE)
NCT06475625	PHASE4	ACTIVE_NOT_RECRUITING	Clinical Impact of Orsiro™ Stent in Patient With Chronic Kidney Disease
NCT06560801	PHASE4	RECRUITING	Dapagliflozin on Renal Morphology and Renal Perfusion in Patients One Year After Kidney Transplantation
NCT06574425	PHASE4	ENROLLING_BY_INVITATION	Long-term, High Blood Flow Hemoadsorption Therapy in Patients Undergoing Maintenance Hemodialysis
NCT06610526	PHASE4	ACTIVE_NOT_RECRUITING	A Study of Dapagliflozin in Chinese Adult Patients With Chronic Kidney Disease
NCT06642272	PHASE4	RECRUITING	A Pragmatic Trial Comparing Empagliflozin and Dapagliflozin Through Cluster Randomization Embedded in the Electronic Health Record
NCT06660524	PHASE4	RECRUITING	Calcium-Phosphorus Regulation Therapy on Heart Valve Disease
NCT06701825	PHASE4	RECRUITING	Effectiveness and Cost-effectiveness of a Pre-emptive Genotyping Strategy in Patients Receiving Tacrolimus
NCT06860711	PHASE4	RECRUITING	Safety of Short-course of NSAIDs in Pediatric Patients With CKD
NCT07017270	PHASE4	NOT_YET_RECRUITING	Glucagon-like-peptide-1 Receptor Agonists in Patients Receiving Maintenance Dialysis
NCT07025460	PHASE4	ACTIVE_NOT_RECRUITING	Darbepoetin Alfa Once Monthly Dosing Schedule Maintains Hemoglobin Concentration Comparable to Every 2 Weeks Dosing Schedule in Advanced Chronic Kidney Disease Patients Not on Dialysis: A Multicenter, Phase 4 Study
NCT07027774	PHASE4	NOT_YET_RECRUITING	Effect of Henagliflozin on Renal Outcomes in Non-dialysis Patients With Advanced Chronic Kidney Disease : A Multicenter Prospective, Randomized Controlled Trial（HERO -aCKD）
NCT07030894	PHASE4	RECRUITING	Nefecon and Ambrisentan in IgA Nephropathy
NCT07074418	PHASE4	NOT_YET_RECRUITING	Effect of Empagliflozin in Patients With eGFR Between 10 and 20 ml/Min/1.73m2
NCT07116928	PHASE4	NOT_YET_RECRUITING	Ganagliflozin on the Progression of Kidney Disease in Subjects With Type 2 Diabetes Mellitus and Chronic Kidney Disease
NCT07187713	PHASE4	RECRUITING	ACE Reno, Pico Cell Matrix and Its Effect on eGFR in Chronic Kidney Diseases
NCT07235891	PHASE4	NOT_YET_RECRUITING	Retinal Protective Effects of Novel Finerenone in Patients With Chronic Kidney Disease
NCT07239570	PHASE4	RECRUITING	A Biomarker-targeted Clinical Trial to Optimize Treatment for Patients With Chronic Kidney Disease
NCT07259512	PHASE4	RECRUITING	Single and Twice-daily Dosing of Ramipril on Renal Function in Chronic Kidney Disease Patients With Reduced Ejection Fraction Heart Failure
NCT07405216	PHASE4	RECRUITING	Efficacy and Safety of Sodium-Glucose Cotransporter-2 Inhibitors in Adolescents With Early Stages of Chronic Kidney Disease
NCT07527390	PHASE4	NOT_YET_RECRUITING	CANagliflozin In DIALysis Patients
NCT07537088	PHASE4	NOT_YET_RECRUITING	Efficacy and Safety of Triple Therapy With Dulaglutide, SGLT2 Inhibitors, and Finerenone in Chinese Adults With Type 2 Diabetes and Chronic Kidney Disease
NCT07547878	PHASE4	NOT_YET_RECRUITING	Rapid and Simultaneous Initiation of Four Guideline-Directed CKD Therapies (RAPID-CKD)

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
CINACALCET	4	38
PARICALCITOL	4	23
SEVELAMER	4	20
DARBEPOETIN ALFA	4	15
PEGINESATIDE	4	14
CALCITRIOL	4	11
FINERENONE	4	11
SODIUM BICARBONATE	4	10
CLOPIDOGREL BISULFATE	4	9
COLESTILAN CHLORIDE	4	8
LANTHANUM CARBONATE	4	8
ROXADUSTAT	4	8
SEVELAMER HYDROCHLORIDE	4	8
EMPAGLIFLOZIN	4	7
RAMIPRIL	4	6
ACETYLCYSTEINE	4	5
ALISKIREN	4	5
CALCIFEDIOL	4	5
METHOXY POLYETHYLENE GLYCOL-EPOETIN BETA	4	5
SODIUM ZIRCONIUM CYCLOSILICATE	4	5
SOTAGLIFLOZIN	4	5
AMILORIDE	4	4
DOXERCALCIFEROL	4	4
EPLERENONE	4	4
ERGOCALCIFEROL	4	4
FUROSEMIDE	4	4
IRON SUCROSE	4	4
PENTOXIFYLLINE	4	4
SOMATROPIN	4	4
CALCIUM ACETATE	4	3