Skin tag

Summary

Skin tag (MONDO:0004026) is a disease with 2 cohort genes and 5 clinical trials. Top therapeutic interventions include fusidate sodium and petrolatum.

At a glance

• Cohort genes: 2
• ClinVar variants: 3
• Clinical trials: 5

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	skin tag
Mondo ID	MONDO:0004026
DOID	DOID:6873
NCIT	C3374
SNOMED CT	201091002
UMLS	C0037293
MedGen	11452
Is cancer (heuristic)	no

Also known as: acrochordon · cutaneous fibroepithelial polyp · cutaneous tag · fibroepithelial polyp of skin · fibroepithelial polyp of the skin · fibroma molle · soft fibroma

Data availability: 3 ClinVar variants.

Disease family

Classification path: disease › human disease › disease by body system or component › integumentary system disorder › skin disorder › reactive cutaneous fibrous lesion › skin tag

Related subtypes (1): keloid

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

ClinVar germline variants

3 retrieved; paginated sample, class counts are floors:

3 uncertain significance

ClinVar	Variant (HGVS)	Gene	Classification	Review
1065336	NM_001374353.1(GLI2):c.3784C>T (p.His1262Tyr)	GLI2	Uncertain significance	criteria provided, multiple submitters, no conflicts
1065337	NM_004716.4(PCSK7):c.1678C>G (p.Arg560Gly)	PCSK7	Uncertain significance	criteria provided, multiple submitters, no conflicts
1065338	NM_004716.4(PCSK7):c.1634A>C (p.Lys545Thr)	PCSK7	Uncertain significance	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 8 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
GLI2	Orphanet:220386	Semilobar holoprosencephaly
GLI2	Orphanet:280195	Septopreoptic holoprosencephaly
GLI2	Orphanet:280200	Microform holoprosencephaly
GLI2	Orphanet:420584	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
GLI2	Orphanet:93924	Lobar holoprosencephaly
GLI2	Orphanet:93925	Alobar holoprosencephaly
GLI2	Orphanet:93926	Midline interhemispheric variant of holoprosencephaly
GLI2	Orphanet:95494	Combined pituitary hormone deficiencies, genetic forms

Cohort genes → proteins

2 cohort genes, 2 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	2

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
GLI2	HGNC:4318	ENSG00000074047	P10070	Zinc finger protein GLI2	clinvar
PCSK7	HGNC:8748	ENSG00000160613	Q16549	Proprotein convertase subtilisin/kexin type 7	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
GLI2	Zinc finger protein GLI2	Functions as a transcription regulator in the hedgehog (Hh) pathway.
PCSK7	Proprotein convertase subtilisin/kexin type 7	Serine endoprotease that processes various proproteins by cleavage at paired basic amino acids, recognizing the RXXX[KR]R consensus motif.

Protein-family classification

Druggable: 1 · Difficult: 1 · Unknown: 0 · Druggable fraction: 0.5

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
Protease	1	18.3×	0.108
Transcription factor	1	4.1×	0.228

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
GLI2	Transcription factor	no		Znf_C2H2_type, Znf_C2H2_sf, GLI-like
PCSK7	Protease	yes	3.4.21.B27	Peptidase_S8/S53_dom, P_dom, Galactose-bd-like_sf

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)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	2
unknown	0

Top tissues across cohort

Tissue	Cohort genes
germinal epithelium of ovary	1
tibia	1
ventricular zone	1
granulocyte	1
mucosa of transverse colon	1
sural nerve	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
GLI2	211	ubiquitous	marker	tibia, germinal epithelium of ovary, ventricular zone
PCSK7	263	ubiquitous	marker	granulocyte, sural nerve, mucosa of transverse colon

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
GLI2	3,112
PCSK7	1,827

Structural data

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

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
PCSK7	Q16549	81.92
GLI2	P10070	42.68

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 6. 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.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
RUNX2 regulates chondrocyte maturation	1	1142.0×	0.004	GLI2
GLI proteins bind promoters of Hh responsive genes to promote transcription	1	815.7×	0.004	GLI2
Regulation of CDH1 posttranslational processing and trafficking to plasma membrane	1	167.9×	0.012	PCSK7
Degradation of GLI2 by the proteasome	1	112.0×	0.013	GLI2
Hedgehog ‘off’ state	1	89.2×	0.013	GLI2
Hedgehog ‘on’ state	1	79.3×	0.013	GLI2

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 term	Cohort genes	Fold	FDR	Sample cohort genes
ventral midline development	1	2808.7×	0.004	GLI2
floor plate formation	1	2808.7×	0.004	GLI2
spinal cord ventral commissure morphogenesis	1	2808.7×	0.004	GLI2
hindgut morphogenesis	1	2106.5×	0.004	GLI2
tube development	1	2106.5×	0.004	GLI2
cerebellar cortex morphogenesis	1	1404.3×	0.005	GLI2
spinal cord dorsal/ventral patterning	1	1053.2×	0.005	GLI2
ventral spinal cord development	1	936.2×	0.005	GLI2
epidermal cell differentiation	1	842.6×	0.005	GLI2
positive regulation of T cell differentiation in thymus	1	766.0×	0.005	GLI2
hindbrain development	1	561.7×	0.006	GLI2
osteoblast development	1	495.6×	0.006	GLI2
embryonic digestive tract development	1	495.6×	0.006	GLI2
peptide hormone processing	1	468.1×	0.006	PCSK7
developmental growth	1	366.4×	0.006	GLI2
branching morphogenesis of an epithelial tube	1	366.4×	0.006	GLI2
proximal/distal pattern formation	1	324.1×	0.006	GLI2
pituitary gland development	1	324.1×	0.006	GLI2
mammary gland development	1	324.1×	0.006	GLI2
positive regulation of DNA replication	1	290.6×	0.007	GLI2
hair follicle morphogenesis	1	247.8×	0.007	GLI2
pattern specification process	1	234.1×	0.007	GLI2
odontogenesis of dentin-containing tooth	1	150.5×	0.011	GLI2
neuron development	1	127.7×	0.012	GLI2
cellular response to virus	1	100.3×	0.015	GLI2
lung development	1	99.1×	0.015	GLI2
smoothened signaling pathway	1	90.6×	0.015	GLI2
protein processing	1	85.1×	0.016	PCSK7
kidney development	1	70.2×	0.019	GLI2
skeletal system development	1	62.9×	0.020	GLI2

Therapeutics

Drug target analysis

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

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.

Symbol	Example approved molecule
PCSK7	WARFARIN

Top cohort targets by molecule count

Symbol	Molecules	Max phase
PCSK7	2	4
GLI2	0	0

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
WARFARIN	4	PCSK7
DICUMAROL	4	PCSK7

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 1.

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

Symbol	Assays	Type breakdown
PCSK7	10	Binding:10
GLI2	6	Binding:6

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
PCSK7	3.4.21.B27

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

2 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)
WARFARIN	4	PCSK7
DICUMAROL	4	PCSK7

Druggability pyramid

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

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	1	PCSK7
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	1	GLI2

Undrugged target profiles

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

Symbol	ChEMBL assays	Drugged partners (top 3)
GLI2	6	—

Clinical trials & evidence

Clinical trials

Clinical trials: 5.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	5

Top trials by phase / activity

NCT	Phase	Status	Title
NCT07355543	Not specified	RECRUITING	Evaluate the Effectiveness and Safety of a Cryogenic Pen to Treat Skin Tags Versus a Comparator.
NCT00520078	Not specified	UNKNOWN	Clinicopathological and Molecular Correlation of Acrochordon in Relation to Human Papillomavirus Infection
NCT04161274	Not specified	COMPLETED	Randomized Clinical Trial on Skin Tags Approachment.
NCT05353374	Not specified	COMPLETED	Effectiveness of Sodium Fusidate Ointment Compared to Petrolatum for Wound Healing Following Cauterization
NCT06315946	Not specified	COMPLETED	Efficacy of a Cryogenic Medical Device on Skin Tags Versus a Comparator Product.

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
FUSIDATE SODIUM	4	1
PETROLATUM	3	1