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Atlas / Disease / Seborrheic keratosis

Seborrheic keratosis

disease
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Also known as basal cell papillomakeratosis Seborrheicakeratosis, seborrheic, somatic

Summary

Seborrheic keratosis (MONDO:0008420) is a disease (an umbrella term covering 5 Mondo subtypes) with 2 cohort genes (84 GWAS associations across 14 studies) and 23 clinical trials. Top therapeutic interventions include hydrogen peroxide, fusidate sodium, and petrolatum.

At a glance

  • Umbrella term: 5 Mondo subtypes
  • Cohort genes: 2
  • GWAS associations: 84
  • ClinVar variants: 23
  • Clinical trials: 23

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

FieldValue
Canonical nameseborrheic keratosis
Mondo IDMONDO:0008420
EFOEFO:0005584
MeSHD017492
OMIM182000
DOIDDOID:6498
ICD-10-CML82
NCITC9006
SNOMED CT398838000
UMLSC0022603
MedGen5957
Is cancer (heuristic)no

Also known as: basal cell papilloma · keratosis Seborrheica · keratosis, seborrheic, somatic

Data availability: 23 ClinVar variants · 84 GWAS associations (14 studies).

Disease family

An umbrella term covering 5 Mondo subtypes.

Classification path: disease › human disease › disease by body system or component › integumentary system disorder › skin disorder › keratosis › seborrheic keratosis

Related subtypes (8): keratosis follicularis spinulosa decalvans, acquired keratosis, cholesteatoma, palmoplantar keratosis, porokeratosis, hereditary papulotranslucent acrokeratoderma, acrokeratosis verruciformis, trichostasis spinulosa

Subtypes (5): inflamed seborrheic keratosis, inverted follicular keratosis, melanoacanthoma, vulvar seborrheic keratosis, eyelid seborrheic keratosis

Genetics & variants

GWAS landscape

84 GWAS associations across 14 studies. Top hits map to 20 distinct genes (as reported by GWAS).

Top associations by p-value

rsIDp-valueGeneRisk alleleOdds ratio
rs28536721e-185TERTC0.15
rs122035923e-158IRF4C0.2
chr5:12928686e-127A0.2
rs168919825e-72SLC45A2C0.27
chr3:1891999301e-62A0.09
rs11268096e-50TYRG0.09
rs92908902e-45TPRG1 - TP63A0.09
chr3:1894909491e-38A0.11
rs60596554e-36RALYA0.11
chr2:330515291e-33G0.07
rs112178164e-33POU2F3 - TLCD5G0.06
rs42687483e-31DEF8T0.07
rs75684531e-27TTC27 - LINC00486A0.07
chr2:2021266156e-27A0.06
chr11:1203177134e-24G0.09
rs47768884e-23SMAD3C0.05
rs116115849e-23KRT6A - KRT5C0.09
rs345602612e-22SEMA4BC0.08
rs10492075e-22PPLC0.05
chr2:328204953e-21C0.08
rs20362042e-20ANKRD50A0.06
rs755070319e-20CASP8, FLACC1C0.06
rs24766013e-18AP4B1-AS1, PTPN22A0.08
chr1:1515323728e-18C0.05
chr1:2012988669e-18G0.05
rs755967091e-17TBCDG0.07
chr2:2324858332e-17A0.06
chr9:168818772e-17C0.05
rs1177440813e-15CPVLA0.12
rs111701643e-15KRT5C0.09

Top studies (by case count)

StudyLead authorYearCasesControlsTitle
GCST90476206Verma A202488,990303,479Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90473976UK Biobank Whole-Genome Sequencing Consortium202530,519427,921Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90667946UK Biobank Whole-Genome Sequencing Consortium202530,519427,921Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90080369Backman JD202110,168361,048Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90084355Backman JD202110,168361,048Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90476205Verma A20244,51850,328Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90478813Verma A20243,192112,982Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90480469Verma A20243,192112,982Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90436622Zhou W20183,092403,439Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.
GCST90044526Jiang L20212,684453,664A generalized linear mixed model association tool for biobank-scale data.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

TierVariants
Tier 1: coding6
Tier 2: splice/UTR0
Tier 3: regulatory0
Tier 4: intronic/intergenic44

MAF distribution

BucketVariants
common (>=0.05)36
low_freq (0.01-0.05)2
rare (<0.01)0
unknown12

Functional consequences

ConsequenceCount
unknown25
intron_variant12
missense_variant6
intergenic_variant6
synonymous_variant1

Top variants

rsIDChrPosAllelesMAFConsequenceGenep-valueTier
rs285367251292868C>A,G0.482intron_variantTERT1e-185Tier 4: intronic/intergenic
rs122035926396321C>G,T0.16intron_variantIRF43e-158Tier 4: intronic/intergenic
chr5:12928686e-127Tier 4: intronic/intergenic
rs16891982533951588C>A,G0.037missense_variantSLC45A25e-72Tier 1: coding
chr3:1891999300.4311e-62Tier 4: intronic/intergenic
rs11268091189284793G>A0.283missense_variantTYR6e-50Tier 1: coding
rs92908903189478776A>C0.477intergenic_variantTPRG1 - TP632e-45Tier 4: intronic/intergenic
chr3:1894909491e-38Tier 4: intronic/intergenic
rs60596552034077942A>G0.092intron_variantRALY4e-36Tier 4: intronic/intergenic
chr2:330515290.4221e-33Tier 4: intronic/intergenic
rs1121781611120320288G>A0.349intergenic_variantPOU2F3 - TLCD54e-33Tier 4: intronic/intergenic
rs42687481689960104T>C0.281intron_variantDEF83e-31Tier 4: intronic/intergenic
rs7568453232823995A>C,G,T0.368intergenic_variantTTC27 - LINC004861e-27Tier 4: intronic/intergenic
chr2:2021266150.2676e-27Tier 4: intronic/intergenic
chr11:1203177134e-24Tier 4: intronic/intergenic
rs47768881567091921C>A,G,T0.446intron_variantSMAD34e-23Tier 4: intronic/intergenic
rs116115841252512251C>A0.087intron_variantKRT6A - KRT59e-23Tier 4: intronic/intergenic
rs345602611590191194C>T0.162intron_variantSEMA4B2e-22Tier 4: intronic/intergenic
rs1049207164884563C>A,G,T0.445synonymous_variantPPL5e-22Tier 4: intronic/intergenic
chr2:328204953e-21Tier 4: intronic/intergenic
rs20362044124698876A>G0.196intron_variantANKRD502e-20Tier 4: intronic/intergenic
rs755070312201296039C>A,T0.28intron_variantCASP8, FLACC19e-20Tier 4: intronic/intergenic
rs24766011113834946A>G,T0.096missense_variantAP4B1-AS1, PTPN223e-18Tier 1: coding
chr1:1515323720.4078e-18Tier 4: intronic/intergenic
chr1:2012988660.4179e-18Tier 4: intronic/intergenic
rs755967091782794256G>A,T0.099intron_variantTBCD1e-17Tier 4: intronic/intergenic
chr2:2324858330.1822e-17Tier 4: intronic/intergenic
chr9:168818770.4062e-17Tier 4: intronic/intergenic
rs117744081729092663A>G0.032missense_variantCPVL3e-15Tier 1: coding
rs111701641252519884C>A,G,T0.06missense_variantKRT53e-15Tier 1: coding

ClinVar germline variants

23 retrieved; paginated sample, class counts are floors:

16 uncertain significance, 5 pathogenic, 1 pathogenic/likely pathogenic, 1 likely pathogenic

ClinVarVariant (HGVS)GeneClassificationReview
16332NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys)FGFR3Pathogeniccriteria provided, multiple submitters, no conflicts
16339NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys)FGFR3Pathogeniccriteria provided, multiple submitters, no conflicts
13652NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg)PIK3CAPathogenicreviewed by expert panel
13655NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys)PIK3CAPathogenic/Likely pathogeniccriteria provided, multiple submitters, no conflicts
376050NM_006218.4(PIK3CA):c.1035T>A (p.Asn345Lys)PIK3CAPathogeniccriteria provided, multiple submitters, no conflicts
39705NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr)PIK3CAPathogeniccriteria provided, multiple submitters, no conflicts
376492NM_006218.4(PIK3CA):c.113G>A (p.Arg38His)PIK3CALikely pathogeniccriteria provided, multiple submitters, no conflicts
1006390NM_006218.4(PIK3CA):c.1082A>G (p.Tyr361Cys)PIK3CAUncertain significancecriteria provided, multiple submitters, no conflicts
1209560NM_006218.4(PIK3CA):c.2980C>T (p.His994Tyr)PIK3CAUncertain significancecriteria provided, multiple submitters, no conflicts
2441860NM_006218.4(PIK3CA):c.1873G>A (p.Asp625Asn)PIK3CAUncertain significancecriteria provided, multiple submitters, no conflicts
3225343NM_006218.4(PIK3CA):c.1860A>T (p.Glu620Asp)PIK3CAUncertain significancecriteria provided, multiple submitters, no conflicts
3258063NM_006218.4(PIK3CA):c.1189C>T (p.Pro397Ser)PIK3CAUncertain significancecriteria provided, single submitter
3306571NM_006218.4(PIK3CA):c.314T>G (p.Val105Gly)PIK3CAUncertain significancecriteria provided, multiple submitters, no conflicts
3588946NM_006218.4(PIK3CA):c.1442G>A (p.Ser481Asn)PIK3CAUncertain significancecriteria provided, single submitter
3588947NM_006218.4(PIK3CA):c.1701A>T (p.Lys567Asn)PIK3CAUncertain significancecriteria provided, single submitter
3588948NM_006218.4(PIK3CA):c.2949G>A (p.Met983Ile)PIK3CAUncertain significancecriteria provided, single submitter
403909NM_006218.4(PIK3CA):c.1130C>G (p.Pro377Arg)PIK3CAUncertain significancecriteria provided, multiple submitters, no conflicts
403919NM_006218.4(PIK3CA):c.341A>G (p.Asn114Ser)PIK3CAUncertain significancecriteria provided, multiple submitters, no conflicts
526637NM_006218.4(PIK3CA):c.2651A>G (p.Lys884Arg)PIK3CAUncertain significancecriteria provided, multiple submitters, no conflicts
526641NM_006218.4(PIK3CA):c.436G>A (p.Val146Ile)PIK3CAUncertain significancecriteria provided, multiple submitters, no conflicts
660732NM_006218.4(PIK3CA):c.2048G>C (p.Arg683Thr)PIK3CAUncertain significancecriteria provided, multiple submitters, no conflicts
936426NM_006218.4(PIK3CA):c.1494G>T (p.Trp498Cys)PIK3CAUncertain significancecriteria provided, multiple submitters, no conflicts
965858NM_006218.4(PIK3CA):c.1476T>G (p.Ile492Met)PIK3CAUncertain significancecriteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 28 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Orphanet rare-disease linkage (cohort genes)

GeneOrphanet IDRare disease
FGFR3Orphanet:15Achondroplasia
FGFR3Orphanet:1860Thanatophoric dysplasia type 1
FGFR3Orphanet:2363Lacrimoauriculodentodigital syndrome
FGFR3Orphanet:251576Gliosarcoma
FGFR3Orphanet:251579Giant cell glioblastoma
FGFR3Orphanet:35099Non-syndromic bicoronal craniosynostosis
FGFR3Orphanet:429Hypochondroplasia
FGFR3Orphanet:53271Muenke syndrome
FGFR3Orphanet:794Saethre-Chotzen syndrome
FGFR3Orphanet:85164Camptodactyly-tall stature-scoliosis-hearing loss syndrome
FGFR3Orphanet:85165Severe achondroplasia-developmental delay-acanthosis nigricans syndrome
FGFR3Orphanet:93262Crouzon syndrome-acanthosis nigricans syndrome
FGFR3Orphanet:93274Thanatophoric dysplasia type 2
PIK3CAOrphanet:140944CLOVES syndrome
PIK3CAOrphanet:144Lynch syndrome
PIK3CAOrphanet:168984CLAPO syndrome
PIK3CAOrphanet:201Cowden syndrome
PIK3CAOrphanet:210159Adult hepatocellular carcinoma
PIK3CAOrphanet:221061Familial cerebral cavernous malformation
PIK3CAOrphanet:2495Meningioma
PIK3CAOrphanet:276280Hemihyperplasia-multiple lipomatosis syndrome
PIK3CAOrphanet:295239Macrodactyly of fingers, unilateral
PIK3CAOrphanet:295243Macrodactyly of toes, unilateral
PIK3CAOrphanet:314662Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
PIK3CAOrphanet:60040Megalencephaly-capillary malformation-polymicrogyria syndrome
PIK3CAOrphanet:714737Diffuse capillary malformation with overgrowth
PIK3CAOrphanet:90308Capillary-lymphatic-venous malformation with segmental distribution
PIK3CAOrphanet:99802Hemimegalencephaly

Cohort genes → proteins

2 cohort genes, 2 distinct canonical proteins.

Evidence partition

SubsetGenes
multi_evidence2

Cohort genes (full)

SymbolHGNCEnsemblUniProtNameEvidence
FGFR3HGNC:3690ENSG00000068078P22607Fibroblast growth factor receptor 3clinvar
PIK3CAHGNC:8975ENSG00000121879P42336Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoformclinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

SymbolProtein nameFunction (lead sentence)
FGFR3Fibroblast growth factor receptor 3Tyrosine-protein kinase that acts as a cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of cell proliferation, differentiation and apoptosis.
PIK3CAPhosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoformPhosphoinositide-3-kinase (PI3K) phosphorylates phosphatidylinositol (PI) and its phosphorylated derivatives at position 3 of the inositol ring to produce 3-phosphoinositides.

Protein-family classification

Druggable: 2 · Difficult: 0 · Unknown: 0 · Druggable fraction: 1.0

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
Kinase227.7×0.001

Per-gene assignment

SymbolFamilyDruggable?ECInterPro (top 3)
FGFR3Kinaseyes2.7.10.1Prot_kinase_dom, Ser-Thr/Tyr_kinase_cat_dom, Ig_sub2
PIK3CAKinaseyes2.7.1.137PI3K_Ras-bd_dom, PI3/4_kinase_cat_dom, PI3K_accessory_dom

Expression context

Cohort genes with no expression data: 0.

2 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)2
unknown0

Top tissues across cohort

TissueCohort genes
skin of hip1
upper arm skin1
upper leg skin1
adrenal tissue1
calcaneal tendon1
tendon1

Per-gene tissue summary (top 30)

SymbolBgee breadthFANTOM5 breadthSCXATop tissues
FGFR3262broadmarkerupper leg skin, skin of hip, upper arm skin
PIK3CA284ubiquitousmarkercalcaneal tendon, adrenal tissue, tendon

Protein interactions among cohort

Intra-cohort edges: 1.

Hub genes (top 10 by interactor count)

SymbolInteractor count
PIK3CA5,157
FGFR34,510

Intra-cohort edges

ABSources
FGFR3PIK3CAstring_interaction

Structural data

PDB: 2 · AlphaFold-only: 0 · No structure: 0

Cohort genes with PDB structures (top 30)

SymbolUniProtPDB entries
PIK3CAP42336135
FGFR3P2260715

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 69. Enrichment computed across 2 evidence-associated genes (2 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 2 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

PathwayCohort genesFoldFDRSample cohort genes
PI-3K cascade:FGFR32634.4×1e-04FGFR3, PIK3CA
Signaling by FGFR3 in disease2496.5×1e-04FGFR3, PIK3CA
PI3K Cascade2271.9×3e-04FGFR3, PIK3CA
Constitutive Signaling by Aberrant PI3K in Cancer2126.9×0.001FGFR3, PIK3CA
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling296.8×0.001FGFR3, PIK3CA
t(4;14) translocations of FGFR315710.0×0.002FGFR3
Signaling by FGFR3 fusions in cancer15710.0×0.002FGFR3
PIP3 activates AKT signaling266.8×0.002FGFR3, PIK3CA
RAF/MAP kinase cascade261.1×0.002FGFR3, PIK3CA
MET activates PI3K/AKT signaling1951.7×0.006PIK3CA
Activated NTRK3 signals through PI3K1951.7×0.006PIK3CA
FGFR3b ligand binding and activation1815.7×0.006FGFR3
Activated NTRK2 signals through PI3K1815.7×0.006PIK3CA
Signaling by LTK in cancer1815.7×0.006PIK3CA
PI3K/AKT activation1634.4×0.006PIK3CA
IRS-mediated signalling1519.1×0.006PIK3CA
PI3K events in ERBB4 signaling1519.1×0.006PIK3CA
Co-stimulation by ICOS1519.1×0.006PIK3CA
Signaling by activated point mutants of FGFR31475.8×0.006FGFR3
Signaling by FGFR4 in disease1475.8×0.006PIK3CA
Erythropoietin activates Phosphoinositide-3-kinase (PI3K)1475.8×0.006PIK3CA
FGFR3c ligand binding and activation1439.2×0.006FGFR3
Phospholipase C-mediated cascade; FGFR31439.2×0.006FGFR3
Signaling by PDGFRA transmembrane, juxtamembrane and kinase domain mutants1439.2×0.006PIK3CA
Signaling by PDGFRA extracellular domain mutants1439.2×0.006PIK3CA
Signaling by LTK1439.2×0.006PIK3CA
Signaling by FLT3 ITD and TKD mutants1380.7×0.006PIK3CA
Constitutive Signaling by EGFRvIII1356.9×0.006PIK3CA
PI3K events in ERBB2 signaling1335.9×0.006PIK3CA
Signaling by ERBB2 ECD mutants1335.9×0.006PIK3CA

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 2 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO termCohort genesFoldFDRSample cohort genes
response to muscle inactivity18426.0×0.003PIK3CA
negative regulation of developmental growth18426.0×0.003FGFR3
response to butyrate18426.0×0.003PIK3CA
positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction278.4×0.003FGFR3, PIK3CA
fibroblast growth factor receptor apoptotic signaling pathway14213.0×0.003FGFR3
response to L-leucine12808.7×0.003PIK3CA
bone maturation12808.7×0.003FGFR3
cellular response to hydrostatic pressure12808.7×0.003PIK3CA
positive regulation of phospholipase activity11685.2×0.004FGFR3
negative regulation of actin filament depolymerization11404.3×0.004PIK3CA
regulation of cellular respiration11404.3×0.004PIK3CA
regulation of actin filament organization11203.7×0.004PIK3CA
autosome genomic imprinting11203.7×0.004PIK3CA
negative regulation of fibroblast apoptotic process11203.7×0.004PIK3CA
endochondral bone growth1842.6×0.005FGFR3
cardiac muscle cell contraction1842.6×0.005PIK3CA
positive regulation of protein localization to membrane1842.6×0.005PIK3CA
TORC2 signaling1766.0×0.005PIK3CA
phosphatidylinositol-3-phosphate biosynthetic process1648.1×0.005PIK3CA
anoikis1648.1×0.005PIK3CA
relaxation of cardiac muscle1648.1×0.005PIK3CA
response to dexamethasone1601.9×0.005PIK3CA
vasculature development1561.7×0.005PIK3CA
negative regulation of macroautophagy1561.7×0.005PIK3CA
chondrocyte proliferation1526.6×0.005FGFR3
vascular endothelial growth factor signaling pathway1526.6×0.005PIK3CA
negative regulation of anoikis1443.5×0.006PIK3CA
response to muscle stretch1383.0×0.006PIK3CA
positive regulation of tyrosine phosphorylation of STAT protein1366.4×0.006FGFR3
phosphatidylinositol-mediated signaling1351.1×0.006PIK3CA

Therapeutics

Drugs indicated or in trials for this disease

1 approved drug — disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

DrugStatus
Hydrogen PeroxideApproved (phase 4)

1 drug in clinical trials for this disease (phase 2–3, investigational): efficacy not established — a trial record, not an indication.

DrugHighest phase
Ingenol MebutatePhase 2

Drug target analysis

Approved (phase 4): 2 · Phase ≥3: 2 · Phased (≥1): 2 · Undrugged: 0

Druggability breadth: 2 of 2 evidence-associated genes (100%) 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
FGFR3PONATINIB
PIK3CAIDELALISIB

Top cohort targets by molecule count

SymbolMoleculesMax phase
PIK3CA674
FGFR3644

Drugs targeting cohort genes (top 30)

MoleculeMax phaseTargets in cohort
PONATINIB4FGFR3
PEMIGATINIB4FGFR3
NINTEDANIB4FGFR3
FEDRATINIB4FGFR3, PIK3CA
LENVATINIB4FGFR3
AXITINIB4FGFR3
SORAFENIB4FGFR3
INFIGRATINIB PHOSPHATE4FGFR3
INFIGRATINIB4FGFR3
ENTRECTINIB4FGFR3
CERITINIB4FGFR3
VANDETANIB4FGFR3
NINTEDANIB ESYLATE4FGFR3
BRIGATINIB4FGFR3
ERDAFITINIB4FGFR3
FUTIBATINIB4FGFR3
PAZOPANIB4FGFR3
SUNITINIB4FGFR3, PIK3CA
DASATINIB4FGFR3, PIK3CA
CRIZOTINIB4FGFR3, PIK3CA
MIDOSTAURIN4FGFR3, PIK3CA
IDELALISIB4PIK3CA
ALPELISIB4PIK3CA
DUVELISIB4PIK3CA
COPANLISIB4PIK3CA
ROMIDEPSIN4PIK3CA
COPANLISIB HYDROCHLORIDE4PIK3CA
LENIOLISIB4PIK3CA
BELINOSTAT4PIK3CA
INAVOLISIB4PIK3CA

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 2.

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

SymbolAssaysType breakdown
PIK3CA2,034Binding:2009, ADMET:19, Toxicity:4, Functional:2
FGFR3975Binding:948, Functional:18, ADMET:9

Cohort enzymes (BRENDA EC)

SymbolEC numbersNames
FGFR32.7.10.1receptor protein-tyrosine kinase
PIK3CA2.7.1.137, 2.7.1.153, 2.7.11.1phosphatidylinositol 3-kinase, phosphatidylinositol-4,5-bisphosphate 3-kinase, non-specific serine/threonine protein kinase

Cohort genes with high screening signal

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

SymbolChEMBL assays
FGFR3975
PIK3CA2,034

Pharmacogenomics

Cohort genes with a PharmGKB record: 2; 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)
PONATINIB4FGFR3
PEMIGATINIB4FGFR3
NINTEDANIB4FGFR3
FEDRATINIB4FGFR3, PIK3CA
LENVATINIB4FGFR3
AXITINIB4FGFR3
SORAFENIB4FGFR3
INFIGRATINIB PHOSPHATE4FGFR3
INFIGRATINIB4FGFR3
ENTRECTINIB4FGFR3
CERITINIB4FGFR3
VANDETANIB4FGFR3
NINTEDANIB ESYLATE4FGFR3
BRIGATINIB4FGFR3
ERDAFITINIB4FGFR3
FUTIBATINIB4FGFR3
PAZOPANIB4FGFR3
SUNITINIB4FGFR3, PIK3CA
DASATINIB4FGFR3, PIK3CA
CRIZOTINIB4FGFR3, PIK3CA
MIDOSTAURIN4FGFR3, PIK3CA
IDELALISIB4PIK3CA
ALPELISIB4PIK3CA
DUVELISIB4PIK3CA
COPANLISIB4PIK3CA
ROMIDEPSIN4PIK3CA
COPANLISIB HYDROCHLORIDE4PIK3CA
LENIOLISIB4PIK3CA
BELINOSTAT4PIK3CA
INAVOLISIB4PIK3CA

Druggability pyramid

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

TierDefinitionGenesSymbols
AApproved (phase 4 drug)2FGFR3, PIK3CA
BPhased (≥1) drug, not yet approved0
CDruggable family + PDB, no drug0
DDruggable family + AlphaFold only, no drug0
EDifficult family or no structure, no drug0

Undrugged target profiles

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

Clinical trials & evidence

Clinical trials

Clinical trials: 23.

Phase distribution (across all retrieved trials)

PhaseTrials
Not specified12
PHASE26
PHASE33
PHASE41
PHASE1/PHASE21

Top trials by phase / activity

NCTPhaseStatusTitle
NCT03487588PHASE4COMPLETEDAn A Study Assessing Subject Satisfaction With A-101 Topical Solution for Seborrheic Keratoses
NCT02667236PHASE3COMPLETEDA Study of A-101 Solution 40% in Subjects With Seborrheic Keratosis.
NCT02667275PHASE3COMPLETEDA Randomized, Double-Blind, Vehicle-Controlled Study in Subjects With Seborrheic Keratosis
NCT02667288PHASE3COMPLETEDAn Open-Label Safety Study of A-101 Solution
NCT06108024PHASE2RECRUITINGA Trial to Evaluate the Safety and Efficacy of SM-020 Gel 1.0% in Subjects With Seborrheic Keratosis
NCT01214564PHASE2COMPLETEDStudy to Evaluate the Safety and Efficacy of PEP005(Ingenol Mebutate) Gel, 0.05%, in Patients With Seborrhoeic Keratosis
NCT01986920PHASE1/PHASE2COMPLETEDStudy of Safety, Tolerability and Effectiveness of A-101 in Subjects With Seborrheic Keratosis
NCT02160626PHASE2COMPLETEDDose-Response Profile of A-101 in Subjects With Seborrheic Keratosis
NCT02260180PHASE2COMPLETEDStudy of A-101 for the Treatment of Seborrheic Keratosis
NCT03148691PHASE2COMPLETEDA Randomized, Vehicle-Controlled Study of 2 Concentrations of A-101 for the Treatment of Seborrheic Keratosis
NCT05136144PHASE2UNKNOWNAdaptive Design Study for Safety and Efficacy of Treatment Regimens With SM-020 in Subjects With Seborrheic Keratosis
NCT00540566Not specifiedCOMPLETEDOptical Biopsy of Human Skin in Conjunction With Laser Treatment
NCT01159860Not specifiedCOMPLETEDIs Cryosurgery or Curettage More Effective at Treating Seborrheic Keratoses?
NCT03846531Not specifiedCOMPLETEDNano-Pulse Stimulation (NPS) in Seborrheic Keratosis Study
NCT04229277Not specifiedCOMPLETEDFast Track Diagnosis of Skin Cancer by Advanced Imaging
NCT04249115Not specifiedTERMINATEDNano-Pulse Stimulation (NPS) in Seborrheic Keratosis Optimization Study
NCT04688749Not specifiedTERMINATEDUse of Electrical Impedance Spectroscopy (EIS) for Early Diagnosis of Skin Damage
NCT05353374Not specifiedCOMPLETEDEffectiveness of Sodium Fusidate Ointment Compared to Petrolatum for Wound Healing Following Cauterization
NCT06046144Not specifiedCOMPLETEDComparison of 3 in Vivo Microscopic Imaging Techniques for the Diagnosis of Pigmented Tumors
NCT07095348Not specifiedCOMPLETEDRelationship Between Serum Xanthine Oxidase Levels and Seborrheic Keratosis
NCT07334600Not specifiedCOMPLETEDEffect of 1% Andaliman Fruit Extract Cream on Facial Seborrheic Keratosis
NCT07384299Not specifiedCOMPLETEDImpact of Skin Type on Wonud Healing and Scarring Following Facial Skin Surgery
NCT07441538Not specifiedCOMPLETEDOptimizing the Timing for Facial Surgical Dressing Removal

Drugs tested across these trials (top 30)

MoleculeMax phaseTrials referencing
HYDROGEN PEROXIDE48
FUSIDATE SODIUM41
PETROLATUM31
VEHICLE04

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
v1.1.4
BioBTree
v2.0.2

Sources 72

This page pulls from 72 datasets indexed by BioBTree:

alphafoldantibodybgeebgee_evidencebindingdbbiogrid_interactionbrendabrenda_kineticscellosauruschembl_activitychembl_assaychembl_documentchembl_moleculechembl_targetcivic_evidenceclingen_dosageclinical_trialsclinvarctd_gene_interactiondbsnpdepmapdiamond_similaritydoidefoensemblentrezesm2_similarityfantom5_genefantom5_promotergenccgenerifgogtopdbgtopdb_interactiongwasgwas_studyhgncicd10cmintactinterpromedgenmeshmimmondomondochildmondoparentncitorphanetpatentpatent_compoundpdbpfampharmgkb_clinicalpharmgkb_genepharmgkb_guidelinepharmgkb_variantpubchempubchem_activitypubchem_assayreactomerefseqrhearnacentralsctidscxa_expressionscxa_gene_experimentsignorstring_interactiontranscriptufeatureumlsuniprot