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Atlas / Disease / Osteoarthritis, hand

Osteoarthritis, hand

disease
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Summary

Osteoarthritis, hand (MONDO:0006632) is a disease with 16 cohort genes (78 GWAS associations across 21 studies).

At a glance

  • Cohort genes: 16
  • GWAS associations: 78

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

FieldValue
Canonical nameosteoarthritis, hand
Mondo IDMONDO:0006632
EFOEFO:1000789
UMLSC0263746
MedGen472992
Is cancer (heuristic)no

Data availability: 78 GWAS associations (21 studies).

Disease family

Classification path: disease › human disease › disease by body system or component › musculoskeletal system disorder › skeletal system disorder › bone disorder › bone inflammation disease › arthritic joint disease › osteoarthritis › osteoarthritis, hand

Related subtypes (4): osteoarthritis, knee, osteoarthritis, hip, osteoarthritis, spine, osteoarthritis, toe

Genetics & variants

GWAS landscape

78 GWAS associations across 21 studies. Top hits map to 21 distinct genes (as reported by GWAS).

Top associations by p-value

rsIDp-valueGeneRisk alleleOdds ratio
rs108516332e-22ALDH1A2T1.09
rs24307403e-18C12orf60T0.87
rs116311277e-18ALDH1A2C1.46
rs110713665e-17ALDH1A2A0.9
rs105007595e-17TEAD1A0.93
rs72946363e-16C12orf60A1.16
rs115888503e-16SNAP47A0.87
rs47641332e-15C12orf60 - ERP27T0.83
rs110713654e-14ALDH1A2A1.11
rs170134958e-14MEPE - HSP90AB3PT1.4
rs109161992e-13ZNF847P - SNAP47A0.31
rs38212693e-13TGFAA1.06
rs18008014e-13MGP, C12orf60T1.37
rs13662021e-11LVRNA1.14
rs93792681e-11HULCA1.12
rs108319032e-11TEAD1T0.91
rs39931104e-11TEAD1A1.09
rs112432844e-11HULCC1.35
rs22410585e-11CYP26B1A0.93
rs342559795e-11FOXA3 - IRF2BP1T0.92
rs81125597e-11IRF2BP1 - MYPOPC1.13
rs93968619e-11RNF144BA1.13
rs115503482e-10IRF2BP1A0.85
rs47606112e-10COL2A1 - SENP1T1.07
rs100627493e-10SPRY4-AS1T1.06
rs104159614e-10SLC44A2 - ILF3-DTC0.92
rs115881546e-10CIMAP2T0.83
rs104076927e-10ILF3A1.06
rs77481893e-09IMPDH1P9 - RNF144BA1.07
rs726603164e-09RAP1GAPT1.07

Top studies (by case count)

StudyLead authorYearCasesControlsTitle
GCST90566797Hatzikotoulas K202539,454814,447Translational genomics of osteoarthritis in 1,962,069 individuals.
GCST90034527Boer CG202120,901282,881Deciphering osteoarthritis genetics across 826,690 individuals from 9 populations.
GCST90061026Boer CG202120,901282,881Deciphering osteoarthritis genetics across 826,690 individuals from 9 populations.
GCST90061037Boer CG202120,901282,881Deciphering osteoarthritis genetics across 826,690 individuals from 9 populations.
GCST90566803Hatzikotoulas K202516,653759,835Translational genomics of osteoarthritis in 1,962,069 individuals.
GCST90566796Hatzikotoulas K202516,039690,450Translational genomics of osteoarthritis in 1,962,069 individuals.
GCST90034528Boer CG202110,804255,814Deciphering osteoarthritis genetics across 826,690 individuals from 9 populations.
GCST90061027Boer CG202110,804255,814Deciphering osteoarthritis genetics across 826,690 individuals from 9 populations.
GCST90061038Boer CG202110,804255,814Deciphering osteoarthritis genetics across 826,690 individuals from 9 populations.
GCST90034529Boer CG202110,536236,919Deciphering osteoarthritis genetics across 826,690 individuals from 9 populations.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

TierVariants
Tier 1: coding1
Tier 2: splice/UTR1
Tier 3: regulatory1
Tier 4: intronic/intergenic47

MAF distribution

BucketVariants
common (>=0.05)50
low_freq (0.01-0.05)0
rare (<0.01)0
unknown0

Functional consequences

ConsequenceCount
intron_variant27
intergenic_variant16
unknown2
TF_binding_site_variant1
5_prime_UTR_variant1
synonymous_variant1
missense_variant1
non_coding_transcript_exon_variant1

Top variants

rsIDChrPosAllelesMAFConsequenceGenep-valueTier
rs108516331558030867C>A,G,T0.372intron_variantALDH1A22e-22Tier 4: intronic/intergenic
rs24307401214889004T>C,G0.384intergenic_variantC12orf603e-18Tier 4: intronic/intergenic
rs116311271557977811G>A,C0.424intron_variantALDH1A27e-18Tier 4: intronic/intergenic
rs110713661558042046A>C,G,T0.386intron_variantALDH1A25e-17Tier 4: intronic/intergenic
rs105007591112801041G>A0.406intron_variantTEAD15e-17Tier 4: intronic/intergenic
rs72946361214901082G>A0.373TF_binding_site_variantC12orf603e-16Tier 3: regulatory
rs115888501227739541A>G0.174intron_variantSNAP473e-16Tier 4: intronic/intergenic
rs47641331214911429C>G,T0.39intergenic_variantC12orf60 - ERP272e-15Tier 4: intronic/intergenic
rs110713651558041928G>A0.385intron_variantALDH1A24e-14Tier 4: intronic/intergenic
rs17013495487885460C>T0.404intron_variantMEPE - HSP90AB3P8e-14Tier 4: intronic/intergenic
rs109161991227714771A>G0.19intergenic_variantZNF847P - SNAP472e-13Tier 4: intronic/intergenic
rs3821269270471458A>C,G0.495intron_variantTGFA3e-13Tier 4: intronic/intergenic
rs18008011214885854C>A,G,T0.3725_prime_UTR_variantMGP, C12orf604e-13Tier 2: splice/UTR
rs13662025116006862A>C,G,T0.18intron_variantLVRN1e-11Tier 4: intronic/intergenic
rs937926868950663A>C,G,T0.305intergenic_variantHULC1e-11Tier 4: intronic/intergenic
rs108319031112737113C>T0.395intron_variantTEAD12e-11Tier 4: intronic/intergenic
rs39931101112772983A>C0.392intron_variantTEAD14e-11Tier 4: intronic/intergenic
rs1124328468945086C>G,T0.289intergenic_variantHULC4e-11Tier 4: intronic/intergenic
rs2241058272134736C>A,G,T0.158intron_variantCYP26B15e-11Tier 4: intronic/intergenic
rs342559791945881572C>T0.114intergenic_variantFOXA3 - IRF2BP15e-11Tier 4: intronic/intergenic
rs81125591945887197C>G0.114intron_variantIRF2BP1 - MYPOP7e-11Tier 4: intronic/intergenic
rs9396861618403902C>A,G,T0.39intron_variantRNF144B9e-11Tier 4: intronic/intergenic
rs115503481945884086G>A0.119synonymous_variantIRF2BP12e-10Tier 4: intronic/intergenic
rs47606111248027666C>A,T0.165intergenic_variantCOL2A1 - SENP12e-10Tier 4: intronic/intergenic
rs100627495142425523G>C,T0.27intron_variantSPRY4-AS13e-10Tier 4: intronic/intergenic
rs104159611910649305G>C,T0.327intergenic_variantSLC44A2 - ILF3-DT4e-10Tier 4: intronic/intergenic
rs11588154154836263T>A,C,G0.166intron_variantCIMAP26e-10Tier 4: intronic/intergenic
rs104076921910660107A>G0.336intron_variantILF37e-10Tier 4: intronic/intergenic
rs7748189618385658G>A0.275intergenic_variantIMPDH1P9 - RNF144B3e-09Tier 4: intronic/intergenic
rs72660316121608200T>A,C0.139intron_variantRAP1GAP4e-09Tier 4: intronic/intergenic

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 4 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Orphanet rare-disease linkage (cohort genes)

GeneOrphanet IDRare disease
CCDC91Orphanet:38Acrokeratoelastoidosis of Costa
F2Orphanet:325Congenital factor II deficiency
F2Orphanet:329217Cerebral sinovenous thrombosis
MGPOrphanet:85202Keutel syndrome

Cohort genes → proteins

16 cohort genes, 15 distinct canonical proteins.

Evidence partition

SubsetGenes
gwas_only16

Cohort genes (full)

SymbolHGNCEnsemblUniProtNameEvidence
SUPT3HHGNC:11466ENSG00000196284O75486Transcription initiation protein SPT3 homologgwas
UVRAGHGNC:12640ENSG00000198382Q9P2Y5UV radiation resistance-associated gene proteingwas
WNT11HGNC:12776ENSG00000085741O96014Protein Wnt-11gwas
CDC5LHGNC:1743ENSG00000096401Q99459Cell division cycle 5-like proteingwas
STXBP6HGNC:19666ENSG00000168952Q8NFX7Syntaxin-binding protein 6gwas
FAT3HGNC:23112ENSG00000165323Q8TDW7Protocadherin Fat 3gwas
CCDC91HGNC:24855ENSG00000123106Q7Z6B0Coiled-coil domain-containing protein 91gwas
ERP27HGNC:26495ENSG00000139055Q96DN0Endoplasmic reticulum resident protein 27gwas
ZNF678HGNC:28652ENSG00000181450Q5SXM1Zinc finger protein 678gwas
PSMG1HGNC:3043ENSG00000183527O95456Proteasome assembly chaperone 1gwas
ENPP3HGNC:3358ENSG00000154269O14638Ectonucleotide pyrophosphatase/phosphodiesterase family member 3gwas
DISC1FP1HGNC:33625ENSG00000261645DISC1 fusion partner 1gwas
ETS2HGNC:3489ENSG00000157557P15036Protein C-ets-2gwas
F2HGNC:3535ENSG00000180210P00734Prothrombingwas
MGPHGNC:7060ENSG00000111341P08493Matrix Gla proteingwas
NOVA1HGNC:7886ENSG00000139910P51513RNA-binding protein Nova-1gwas

Cohort function summary

Lead sentence per gene, UniProt-curated.

SymbolProtein nameFunction (lead sentence)
SUPT3HTranscription initiation protein SPT3 homologProbable transcriptional activator.
UVRAGUV radiation resistance-associated gene proteinVersatile protein that is involved in regulation of different cellular pathways implicated in membrane trafficking.
WNT11Protein Wnt-11Ligand for members of the frizzled family of seven transmembrane receptors.
CDC5LCell division cycle 5-like proteinDNA-binding protein involved in cell cycle control.
STXBP6Syntaxin-binding protein 6Forms non-fusogenic complexes with SNAP25 and STX1A and may thereby modulate the formation of functional SNARE complexes and exocytosis.
FAT3Protocadherin Fat 3May play a role in the interactions between neurites derived from specific subsets of neurons during development.
CCDC91Coiled-coil domain-containing protein 91Involved in the regulation of membrane traffic through the trans-Golgi network (TGN).
ERP27Endoplasmic reticulum resident protein 27Specifically binds unfolded proteins and may recruit protein disulfide isomerase PDIA3 to unfolded substrates.
ZNF678Zinc finger protein 678May be involved in transcriptional regulation.
PSMG1Proteasome assembly chaperone 1Chaperone protein which promotes assembly of the 20S proteasome as part of a heterodimer with PSMG2.
ENPP3Ectonucleotide pyrophosphatase/phosphodiesterase family member 3Hydrolase that metabolizes extracellular nucleotides, including ATP, GTP, UTP and CTP.
ETS2Protein C-ets-2Transcription factor activating transcription.
F2ProthrombinThrombin, which cleaves bonds after Arg and Lys, converts fibrinogen to fibrin and activates factors V, VII, VIII, XIII, and, in complex with thrombomodulin, protein C.
MGPMatrix Gla proteinAssociates with the organic matrix of bone and cartilage.
NOVA1RNA-binding protein Nova-1RNA-binding protein which regulates alternative splicing of pre-mRNAs in the brain and spinal cord in a sequence-specific manner.

Protein-family classification

Druggable: 4 · Difficult: 2 · Unknown: 10 · Druggable fraction: 0.25

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.

FamilyGenesFoldFDR
Phosphatase15.2×0.489
Protease12.3×0.489
Enzyme (other)21.5×0.489
Other/Unknown101.1×0.489
Transcription factor21.0×0.594

Per-gene assignment

SymbolFamilyDruggable?ECInterPro (top 3)
SUPT3HOther/UnknownnoTFIID_TAF13, Histone-fold
UVRAGEnzyme (other)yes2.7.1.137C2_dom, UV_resistance/autophagy_Atg14, C2_domain_sf
WNT11Other/UnknownnoWnt, Wnt_CS, Wnt_C
CDC5LTranscription factornoSANT/Myb, Homeodomain-like_sf, Myb_dom
STXBP6Other/UnknownnoSec3-PIP2_bind, STXBP6_PH, STXBP6_SNARE
FAT3Other/UnknownnoEGF-type_Asp/Asn_hydroxyl_site, EGF, Laminin_G
CCDC91Other/UnknownnoCCDC91
ERP27Enzyme (other)yes5.3.4.1Thioredoxin-like_sf
ZNF678Transcription factornoZnf_C2H2_type, Znf_C2H2_sf
PSMG1Other/UnknownnoProteasome_assmbl_chp_1
ENPP3Phosphataseyes3.6.1.9Somatomedin_B_dom, Endo_G_ENPP1-like_dom, Phosphodiest/P_Trfase
DISC1FP1Other/Unknownno
ETS2Other/UnknownnoEts_dom, Pointed_dom, SAM/pointed_sf
F2Proteaseyes3.4.21.5Kringle, GLA_domain, Trypsin_dom
MGPOther/UnknownnoGLA_domain, Osteocalcin/MGP, MGP
NOVA1Other/UnknownnoKH_dom, KH_dom_type_1, KH_dom_type_1_sf

Expression context

Cohort genes with no expression data: 0.

13 cohort genes are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

BucketGenes
narrow (1-5 tissues)0
moderate (6-20)0
broad (>20)16
unknown0

Top tissues across cohort

TissueCohort genes
male germ line stem cell (sensu Vertebrata) in testis4
buccal mucosa cell3
primordial germ cell in gonad2
sperm2
left testis2
right testis2
testis2
adrenal tissue1
calcaneal tendon1
corpus callosum1
adipose tissue of abdominal region1
omental fat pad1
peritoneum1
male germ cell1
endothelial cell1
lateral globus pallidus1
lateral nuclear group of thalamus1
Brodmann (1909) area 231
middle temporal gyrus1
body of pancreas1

Per-gene tissue summary (top 30)

SymbolBgee breadthFANTOM5 breadthSCXATop tissues
SUPT3H206ubiquitousyesprimordial germ cell in gonad, sperm, male germ line stem cell (sensu Vertebrata) in testis
UVRAG279ubiquitousmarkeradrenal tissue, corpus callosum, calcaneal tendon
WNT11178broadmarkeromental fat pad, peritoneum, adipose tissue of abdominal region
CDC5L290ubiquitousmarkerbuccal mucosa cell, sperm, male germ cell
STXBP6252ubiquitousmarkerlateral nuclear group of thalamus, endothelial cell, lateral globus pallidus
FAT3194broadmarkerbuccal mucosa cell, Brodmann (1909) area 23, middle temporal gyrus
CCDC91282ubiquitousmarkerleft testis, right testis, testis
ERP27180broadmarkerbody of pancreas, kidney epithelium, epithelial cell of pancreas
ZNF678233ubiquitousyesmale germ line stem cell (sensu Vertebrata) in testis, buccal mucosa cell, primordial germ cell in gonad
PSMG1134ubiquitousmarkerleft testis, right testis, testis
ENPP3181tissue_specificmarkerjejunal mucosa, ileal mucosa, seminal vesicle
DISC1FP1118broadyesmale germ line stem cell (sensu Vertebrata) in testis, bone marrow cell, sural nerve
ETS2287ubiquitousmarkerskin of abdomen, mucosa of urinary bladder, skin of leg
F2117tissue_specificmarkerright lobe of liver, liver, male germ line stem cell (sensu Vertebrata) in testis
MGP274ubiquitousmarkerascending aorta, thoracic aorta, descending thoracic aorta
NOVA1241ubiquitousmarkercortical plate, cerebellum, cerebellar hemisphere

Protein interactions among cohort

Intra-cohort edges: 2.

Hub genes (top 10 by interactor count)

SymbolInteractor count
CDC5L5,930
PSMG13,355
F22,709
ETS22,131
WNT112,017
UVRAG1,937
FAT31,660
MGP1,645
SUPT3H1,603
NOVA11,481

Intra-cohort edges

ABSources
CCDC91ZNF678string_interaction
F2MGPstring_interaction

Structural data

PDB: 11 · AlphaFold-only: 4 · No structure: 1

Cohort genes with PDB structures (top 30)

SymbolUniProtPDB entries
F2P00734475
CDC5LQ9945937
PSMG1O9545613
SUPT3HO754864
UVRAGQ9P2Y53
ENPP3O146383
MGPP084933
NOVA1P515133
ERP27Q96DN02
ETS2P150362
CCDC91Q7Z6B01

AlphaFold-only cohort genes (top 30 by pLDDT)

SymbolUniProtpLDDT
WNT11O9601490.35
STXBP6Q8NFX787.31
ZNF678Q5SXM176.20
FAT3Q8TDW7

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 58. Enrichment computed across 16 evidence-associated genes (9 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 9 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

PathwayCohort genesFoldFDRSample cohort genes
Gamma-carboxylation, transport, and amino-terminal cleavage of proteins11268.9×0.023F2
Defective factor VIII causes hemophilia A11268.9×0.023F2
R-HSA-96514961423.0×0.026F2
Defective F8 cleavage by thrombin1423.0×0.026F2
R-HSA-1408751317.2×0.026F2
Defective factor XII causes hereditary angioedema1317.2×0.026F2
Diseases of hemostasis1317.2×0.026F2
R-HSA-1408371158.6×0.039F2
Transport of gamma-carboxylated protein precursors from the endoplasmic reticulum to the Golgi apparatus1141.0×0.039F2
Gamma-carboxylation of protein precursors1126.9×0.039F2
Removal of aminoterminal propeptides from gamma-carboxylated proteins1126.9×0.039F2
SARS-CoV-2 modulates autophagy1115.3×0.039UVRAG
R-HSA-1408771105.7×0.039F2
Translation of Replicase and Assembly of the Replication Transcription Complex197.6×0.039UVRAG
Fibrin formation197.6×0.039F2
Translation of Replicase and Assembly of the Replication Transcription Complex190.6×0.040UVRAG
Vitamin B5 (pantothenate) metabolism184.6×0.040ENPP3
Complement cascade170.5×0.043F2
Amplification and propagation of coagulation cascade170.5×0.043F2
Dengue Virus-Host Interactions210.2×0.045CDC5L, F2
Formation of the ureteric bud155.2×0.049WNT11
Initiation of coagulation cascade152.9×0.049F2
Platelet Aggregation (Plug Formation)148.8×0.049F2
Gamma carboxylation, hypusinylation, hydroxylation, and arylsulfatase activation147.0×0.049F2
WNT ligand biogenesis and trafficking147.0×0.049WNT11
Thrombin signalling through proteinase activated receptors (PARs)139.6×0.056F2
Oncogene Induced Senescence137.3×0.057ETS2
PCP/CE pathway133.4×0.061WNT11
Regulation of clotting cascade125.9×0.073F2
Regulation of Complement cascade125.9×0.073F2

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 15 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO termCohort genesFoldFDRSample cohort genes
SNARE complex assembly2187.2×0.007UVRAG, STXBP6
regulation of protein serine/threonine kinase activity11123.5×0.031UVRAG
proteasome core complex assembly11123.5×0.031PSMG1
ectodermal cell fate commitment1561.7×0.031ETS2
basophil activation involved in immune response1561.7×0.031ENPP3
cloacal septation1561.7×0.031WNT11
primary heart field specification1374.5×0.031WNT11
positive regulation of transforming growth factor beta2 production1374.5×0.031WNT11
ureteric bud morphogenesis1374.5×0.031WNT11
negative regulation of mast cell proliferation1374.5×0.031ENPP3
pyrimidine nucleotide metabolic process1280.9×0.031ENPP3
Wnt signaling pathway, calcium modulating pathway1280.9×0.031WNT11
negative regulation of mast cell activation involved in immune response1280.9×0.031ENPP3
maintenance of Golgi location1280.9×0.031UVRAG
negative regulation of fibroblast growth factor production1280.9×0.031WNT11
nucleoside triphosphate catabolic process1224.7×0.031ENPP3
paraxial mesoderm formation1224.7×0.031WNT11
notochord morphogenesis1224.7×0.031WNT11
convergent extension involved in axis elongation1224.7×0.031WNT11
neutrophil-mediated killing of gram-negative bacterium1224.7×0.031F2
mesonephric duct development1224.7×0.031WNT11
negative regulation of mesenchymal cell proliferation1187.2×0.031WNT11
maintenance of epithelial cell apical/basal polarity1160.5×0.031WNT11
negative regulation of exocytosis1160.5×0.031STXBP6
neuroendocrine cell differentiation1160.5×0.031WNT11
thrombin-activated receptor signaling pathway1160.5×0.031F2
positive regulation of phospholipase C-activating G protein-coupled receptor signaling pathway1160.5×0.031F2
positive regulation of autophagosome maturation1160.5×0.031UVRAG
atrial septum development1140.4×0.031WNT11
obsolete cytolysis by host of symbiont cells1140.4×0.031F2

Therapeutics

Drug target analysis

Approved (phase 4): 1 · Phase ≥3: 2 · Phased (≥1): 2 · Undrugged: 14

Druggability breadth: 5 of 16 evidence-associated genes (31%) 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.

SymbolExample approved molecule
F2INDIGOTINDISULFONATE

Top cohort targets by molecule count

SymbolMoleculesMax phase
F2484
ENPP313
SUPT3H00
UVRAG00
WNT1100
CDC5L00
STXBP600
FAT300
CCDC9100
ERP2700

Drugs targeting cohort genes (top 30)

MoleculeMax phaseTargets in cohort
INDIGOTINDISULFONATE4F2
ARGATROBAN4F2
BENZOYL PEROXIDE4F2
SUCCIMER4F2
EDOXABAN4F2
METHYLPREDNISOLONE ACETATE4F2
LIOTHYRONINE4F2
CAPTOPRIL4F2
RIVAROXABAN4F2
TELOTRISTAT4F2
LUSUTROMBOPAG4F2
APIXABAN4F2
HEXAMIDINE4F2
MELAGATRAN4F2
CIANIDANOL4F2
BORTEZOMIB4F2
DEQUALINIUM4F2
SULFAGUANIDINE4F2
BETRIXABAN4F2
XIMELAGATRAN4F2
BIVALIRUDIN4F2
DABIGATRAN ETEXILATE4F2
PENTAMIDINE4F2
GENTIAN VIOLET4F2
SURAMIN3ENPP3
NAFAMOSTAT3F2
MILVEXIAN3F2
DABIGATRAN3F2
QUERCETIN3F2
CAMOSTAT3F2

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 4.

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

SymbolAssaysType breakdown
F21,269Binding:1216, Functional:38, ADMET:13, Toxicity:2
ENPP358Binding:51, ADMET:7
PSMG15Binding:5
UVRAG2Binding:2
CDC5L1Binding:1

Cohort enzymes (BRENDA EC)

SymbolEC numbersNames
UVRAG2.7.1.137phosphatidylinositol 3-kinase
ERP275.3.4.1protein disulfide-isomerase
ENPP33.6.1.9nucleotide diphosphatase
F23.4.21.5thrombin

Cohort genes with high screening signal

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

SymbolChEMBL assays
F21,269

Pharmacogenomics

Cohort genes with a PharmGKB record: 15; 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.

CompoundMax phaseCohort target (bioactivity)
INDIGOTINDISULFONATE4F2
ARGATROBAN4F2
BENZOYL PEROXIDE4F2
SUCCIMER4F2
EDOXABAN4F2
METHYLPREDNISOLONE ACETATE4F2
LIOTHYRONINE4F2
CAPTOPRIL4F2
RIVAROXABAN4F2
TELOTRISTAT4F2
LUSUTROMBOPAG4F2
APIXABAN4F2
HEXAMIDINE4F2
MELAGATRAN4F2
CIANIDANOL4F2
BORTEZOMIB4F2
DEQUALINIUM4F2
SULFAGUANIDINE4F2
BETRIXABAN4F2
XIMELAGATRAN4F2
BIVALIRUDIN4F2
DABIGATRAN ETEXILATE4F2
PENTAMIDINE4F2
GENTIAN VIOLET4F2
SURAMIN3ENPP3
NAFAMOSTAT3F2
MILVEXIAN3F2
DABIGATRAN3F2
QUERCETIN3F2
CAMOSTAT3F2

Druggability pyramid

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

TierDefinitionGenesSymbols
AApproved (phase 4 drug)1F2
BPhased (≥1) drug, not yet approved1ENPP3
CDruggable family + PDB, no drug2UVRAG, ERP27
DDruggable family + AlphaFold only, no drug0
EDifficult family or no structure, no drug12SUPT3H, WNT11, CDC5L, STXBP6, FAT3, CCDC91, ZNF678, PSMG1, DISC1FP1, ETS2 (+2 more)

Undrugged target profiles

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

SymbolChEMBL assaysDrugged partners (top 3)
SUPT3H0—
UVRAG2—
WNT110—
CDC5L1—
STXBP60—
FAT30—
CCDC910—
ERP270—
ZNF6780—
PSMG15—
DISC1FP10—
ETS20—
MGP0—
NOVA10—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.

About this page

Generated deterministically by Sugi Atlas from primary biomedical databases via BioBTree. Every record on this page traces to a primary source.

Generated
Atlas version
v1.1.2
BioBTree
v2.0.2

Sources 68

This page pulls from 68 datasets indexed by BioBTree:

alphafoldantibodybgeebgee_evidencebindingdbbiogrid_interactionbrendabrenda_kineticscellosauruschembl_activitychembl_assaychembl_documentchembl_moleculechembl_targetcivic_evidenceclingen_dosageclinical_trialsclinvarctd_gene_interactiondbsnpdepmapdiamond_similarityefoensemblentrezesm2_similarityfantom5_genefantom5_promotergenccgenerifgogtopdbgtopdb_interactiongwasgwas_studyhgncintactinterpromedgenmeshmimmondomondochildmondoparentorphanetpatentpatent_compoundpdbpfampharmgkb_clinicalpharmgkb_genepharmgkb_guidelinepharmgkb_variantpubchempubchem_activitypubchem_assayreactomerefseqrhearnacentralscxa_expressionscxa_gene_experimentsignorstring_interactiontranscriptufeatureumlsuniprot