Skin disorder

Summary

Skin disorder (MONDO:0005093) is a disease (an umbrella term covering 72 Mondo subtypes) with 3 cohort genes (266 GWAS associations across 172 studies) and 14 clinical trials. Top therapeutic interventions include cravacitinib.

At a glance

• Umbrella term: 72 Mondo subtypes
• Cohort genes: 3
• GWAS associations: 266
• Clinical trials: 14

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	skin disorder
Mondo ID	MONDO:0005093
EFO	EFO:0000701
MeSH	D012871
DOID	DOID:37
NCIT	C3371
SNOMED CT	95320005
UMLS	C0037274
MedGen	20777
Anatomy (UBERON)	UBERON:0000014
Is cancer (heuristic)	no

Also known as: cutaneous disorder · dermatosis · disease of zone of skin · disease or disorder of zone of skin · disorder of skin · disorder of zone of skin · genodermatosis · skin diseases and manifestations · skin disorder · zone of skin disease · zone of skin disease or disorder

Data availability: 266 GWAS associations (172 studies).

Disease family

An umbrella term covering 72 Mondo subtypes.

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

Related subtypes (35): Neu-Laxova syndrome, cutaneous mycosis, integumentary system benign neoplasm, integumentary system cancer, nipple neoplasm, nail disorder, disorder of pilosebaceous unit, Bartholin duct cyst, benign mammary dysplasia, breast fibrosis, breast mucosa-associated lymphoid tissue lymphoma, panniculitis, alopecia-epilepsy-pyorrhea-intellectual disability syndrome, autosomal dominant deafness - onychodystrophy syndrome, keratoderma hereditarium mutilans, Rombo syndrome, Sjogren-Larsson syndrome, mucosulfatidosis, ichthyosis prematurity syndrome, ANE syndrome, frontonasal dysplasia with alopecia and genital anomaly, peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome, mandibulofacial dysostosis with alopecia, cutis laxa, X-linked ichthyosis syndrome, demodicidosis, Proteus-like syndrome, familial atypical multiple mole melanoma syndrome, familial tumoral calcinosis, subcutaneous tissue disorder, Bartholin gland neoplasm, pseudoxanthoma elasticum (inherited or acquired), skin appendage disorder, keratinization disease, paraneoplastic cutaneous syndrome

Subtypes (72): dermatitis, cutaneous mucinosis, skin neoplasm, pyoderma, chronic ulcer of skin, systemic sclerosis, sunburn, severe cutaneous adverse reaction, paronychia, Achenbach syndrome, erythema multiforme, erythematosquamous dermatosis, exanthem, facial dermatosis, hand dermatosis, keratosis, leg dermatosis, lichen disease, lipodystrophy, mongolian spot, reactive cutaneous fibrous lesion, rosacea, scalp dermatosis, sebaceous gland disorder, skin atrophy, skin sarcoidosis, sweat gland disorder, vesiculobullous skin disease, hyperglobulinemic purpura, ainhum, cheilitis glandularis, erythema palmare hereditarium, multiple benign circumferential skin creases on limbs, actinic prurigo, congenital lethal erythroderma, Parana hard-skin syndrome, Bazex-Dupre-Christol syndrome, nephrogenic systemic fibrosis, erosive pustular dermatosis of the scalp, pseudoxanthoma elasticum-like papillary dermal elastolysis, toxic dermatosis, oral erosive lichen, chronic actinic dermatitis, Jessner lymphocytic infiltration of the skin, acquired kinky hair syndrome, primary cutaneous plasmacytosis, cutaneous pseudolymphoma, corticosteroid-sensitive aseptic abscess syndrome, interstitial granulomatous dermatitis with arthritis, epidermal disease, skin pigmentation disorder, skin vascular disease, Wells syndrome, solar urticaria, pellagra, hereditary epidermal appendage anomaly, keratosis pilaris, dermis disorder, aquagenic pruritus, Boudhina Yedes Khiari syndrome, non-neoplastic nevus, cutaneous sclerosis, pityriasis rotunda, hematohidrosis, skin disorder caused by infection, livedoid vasculopathy, prurigo nodularis, granuloma faciale, sclerema neonatorum, hereditary skin disorder, hand-foot syndrome, Nicolau syndrome

Genetics & variants

GWAS landscape

266 GWAS associations across 172 studies. Top hits map to 25 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs12203592	1e-323	IRF4	C	0.31
rs1805007	1e-224	MC1R	C	0.26
chr3:38009720	5e-216		A	0.58
rs16891982	7e-175	SLC45A2	C	0.37
rs62211989	9e-119	TPM3P2 - PIGPP3	G	0.2
rs1126809	1e-98	TYR	G	0.11
rs6059655	3e-75	RALY	A	0.19
rs13210419	2e-66	LINC02571	G	0.26
rs2853672	6e-61	TERT	C	0.08
chr3:189199930	1e-49		A	0.07
rs12913832	1e-48	HERC2	A	0.08
chr9:16848790	9e-47		C	0.07
chr5:159399349	6e-44		G	0.17
chr5:1292528	1e-39		TA	0.07
rs1007517	1e-37	TPRG1 - TP63	G	0.07
rs56094641	2e-33	FTO	A	0.1
rs12350739	8e-30	BNC2 - RN7SL720P	G	0.07
chr6:396321	1e-29		T	0.1
rs12188300	2e-29	IL12B-AS1	A	0.15
rs55872725	8e-29	FTO	C	0.09
rs61816761	1e-25	FLG, CCDST	G	0.87
rs34714188	2e-25	VPS9D1-AS1, VPS9D1	T	0.29
chr2:202176024	2e-23		T	0.05
chr19:10352442	4e-23		C	0.27
rs6790260	2e-22	LPP	C	0.05
rs200868187	5e-22	FAM8A1	G	0.21
rs1426654	5e-22	SLC24A5	A	0.18
rs9265640	6e-22	LINC02571 - HLA-B	A	0.05
chr3:189487243	1e-21		A	0.05
rs61839660	2e-21	IL2RA	C	0.13

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90038602	Donertas HM	2021	26,874	457,724	Common genetic associations between age-related diseases.
GCST90038679	Donertas HM	2021	20,101	464,497	Common genetic associations between age-related diseases.
GCST90080384	Backman JD	2021	18,698	342,663	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90084370	Backman JD	2021	18,698	342,663	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90103417	Fitzgerald T	2022	17,277	153,480	CNest: A novel copy number association discovery method uncovers 862 new associations from 200,629 whole-exome sequence datasets in the UK Biobank.
GCST90080818	Backman JD	2021	13,788	351,645	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90084804	Backman JD	2021	13,788	351,645	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90080383	Backman JD	2021	5,937	377,141	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90084369	Backman JD	2021	5,937	377,141	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90044509	Jiang L	2021	4,849	451,499	A generalized linear mixed model association tool for biobank-scale data.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	8
Tier 2: splice/UTR	1
Tier 3: regulatory	2
Tier 4: intronic/intergenic	39

MAF distribution

Bucket	Variants
common (>=0.05)	35
low_freq (0.01-0.05)	4
rare (<0.01)	0
unknown	11

Functional consequences

Consequence	Count
unknown	18
intron_variant	14
missense_variant	7
intergenic_variant	7
regulatory_region_variant	1
TF_binding_site_variant	1
stop_gained	1
3_prime_UTR_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
chr6:31274954								Tier 4: intronic/intergenic
rs12203592	6	396321	C>G,T	0.162	intron_variant	IRF4	1e-323	Tier 4: intronic/intergenic
rs1805007	16	89919709	C>A,G,T	0.083	missense_variant	MC1R	1e-224	Tier 1: coding
chr3:38009720							5e-216	Tier 4: intronic/intergenic
rs16891982	5	33951588	C>A,G	0.037	missense_variant	SLC45A2	7e-175	Tier 1: coding
rs62211989	20	33950585	G>C	0.077	intergenic_variant	TPM3P2 - PIGPP3	9e-119	Tier 4: intronic/intergenic
rs1126809	11	89284793	G>A	0.284	missense_variant	TYR	1e-98	Tier 1: coding
rs6059655	20	34077942	A>G	0.074	intron_variant	RALY	3e-75	Tier 4: intronic/intergenic
rs13210419	6	31299200	G>A	0.066	intron_variant	LINC02571	2e-66	Tier 4: intronic/intergenic
rs2853672	5	1292868	C>A,G	0.482	intron_variant	TERT	6e-61	Tier 4: intronic/intergenic
chr3:189199930				0.432			1e-49	Tier 4: intronic/intergenic
rs12913832	15	28120472	A>C,G	0.24	intron_variant	HERC2	1e-48	Tier 4: intronic/intergenic
chr9:16848790				0.396			9e-47	Tier 4: intronic/intergenic
chr5:159399349							6e-44	Tier 4: intronic/intergenic
chr5:1292528							1e-39	Tier 4: intronic/intergenic
rs1007517	3	189490949	G>A	0.495	regulatory_region_variant	TPRG1 - TP63	1e-37	Tier 3: regulatory
rs56094641	16	53772541	A>G,T	0.405	intron_variant	FTO	2e-33	Tier 4: intronic/intergenic
rs12350739	9	16885019	G>A,C,T	0.445	TF_binding_site_variant	BNC2 - RN7SL720P	8e-30	Tier 3: regulatory
chr6:396321							1e-29	Tier 4: intronic/intergenic
rs12188300	5	159402519	A>G,T	0.088	intergenic_variant	IL12B-AS1	2e-29	Tier 4: intronic/intergenic
rs55872725	16	53775211	C>G,T	0.33	intron_variant	FTO	8e-29	Tier 4: intronic/intergenic
rs61816761	1	152313385	G>A,C,T	0.016	stop_gained	FLG, CCDST	1e-25	Tier 1: coding
rs34714188	16	89715348	T>A,C	0.064	intron_variant	VPS9D1-AS1, VPS9D1	2e-25	Tier 4: intronic/intergenic
chr2:202176024				0.282			2e-23	Tier 4: intronic/intergenic
chr19:10352442							4e-23	Tier 4: intronic/intergenic
rs6790260	3	188399291	C>G,T	0.455	intron_variant	LPP	2e-22	Tier 4: intronic/intergenic
rs200868187	6	17602639	G>A,T	0.033	missense_variant	FAM8A1	5e-22	Tier 1: coding
rs1426654	15	48134287	A>C,G,T	0.208	missense_variant	SLC24A5	5e-22	Tier 1: coding
rs9265640	6	31332337	A>G,T	0.407	intron_variant	LINC02571 - HLA-B	6e-22	Tier 4: intronic/intergenic
chr3:189487243							1e-21	Tier 4: intronic/intergenic

Genes & proteins

Mendelian disease overlap and somatic drivers

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

Cohort genes → proteins

3 cohort genes, 3 distinct canonical proteins.

Evidence partition

Subset	Genes
gwas_only	3

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
ZNF827	HGNC:27193	ENSG00000151612	Q17R98	Zinc finger protein 827	gwas
PCED1B	HGNC:28255	ENSG00000179715	Q96HM7	PC-esterase domain-containing protein 1B	gwas
EPHA5	HGNC:3389	ENSG00000145242	P54756	Ephrin type-A receptor 5	gwas

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
ZNF827	Zinc finger protein 827	As part of a ribonucleoprotein complex composed at least of HNRNPK, HNRNPL and the circular RNA circZNF827 that nucleates the complex on chromatin, may negatively regulate the transcription of genes involved in neuronal differentiation.
EPHA5	Ephrin type-A receptor 5	Receptor tyrosine kinase which binds promiscuously GPI-anchored ephrin-A family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells.

Protein-family classification

Druggable: 1 · Difficult: 1 · Unknown: 1 · Druggable fraction: 0.33

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
Kinase	1	9.2×	0.313
Transcription factor	1	2.8×	0.482
Other/Unknown	1	0.6×	0.914

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
ZNF827	Transcription factor	no		Znf_C2H2_type, Znf_C2H2_sf, Zinc_finger/UBP_domain
PCED1B	Other/Unknown	no		SGNH_hydro_sf
EPHA5	Kinase	yes	2.7.10.1	Prot_kinase_dom, EPH_LBD, Ser-Thr/Tyr_kinase_cat_dom

Expression context

Cohort genes with no expression data: 0.

3 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)	3
unknown	0

Top tissues across cohort

Tissue	Cohort genes
buccal mucosa cell	1
pancreatic ductal cell	1
parotid gland	1
granulocyte	1
right adrenal gland	1
right adrenal gland cortex	1
cortical plate	1
ganglionic eminence	1
ventricular zone	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
ZNF827	256	ubiquitous	marker	buccal mucosa cell, parotid gland, pancreatic ductal cell
PCED1B	174	ubiquitous	marker	granulocyte, right adrenal gland cortex, right adrenal gland
EPHA5	142	broad	marker	cortical plate, ganglionic eminence, ventricular zone

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
EPHA5	2,566
ZNF827	779
PCED1B	342

Structural data

PDB: 2 · AlphaFold-only: 1 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
EPHA5	P54756	2
ZNF827	Q17R98	1

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
PCED1B	Q96HM7	72.31

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 4. Enrichment computed across 3 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
EPHA-mediated growth cone collapse	1	190.3×	0.016	EPHA5
EPH-ephrin mediated repulsion of cells	1	109.8×	0.016	EPHA5
EPH-Ephrin signaling	1	82.8×	0.016	EPHA5
Interaction of NuRD complexes with transcription factors	1	63.4×	0.016	ZNF827

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
negative regulation of shelterin complex assembly	1	8426.0×	0.002	ZNF827
establishment of protein localization to telomere	1	1053.2×	0.006	ZNF827
obsolete positive regulation of CREB transcription factor activity	1	842.6×	0.006	EPHA5
regulation of insulin secretion involved in cellular response to glucose stimulus	1	468.1×	0.007	EPHA5
regulation of GTPase activity	1	255.3×	0.011	EPHA5
ephrin receptor signaling pathway	1	172.0×	0.013	EPHA5
telomere maintenance	1	133.8×	0.013	ZNF827
neuron development	1	127.7×	0.013	EPHA5
hippocampus development	1	115.4×	0.013	EPHA5
regulation of actin cytoskeleton organization	1	78.8×	0.018	EPHA5
axon guidance	1	45.3×	0.028	EPHA5
chromatin remodeling	1	36.5×	0.032	ZNF827
negative regulation of DNA-templated transcription	1	15.8×	0.067	ZNF827
positive regulation of transcription by RNA polymerase II	1	7.4×	0.130	ZNF827

Therapeutics

Drugs indicated for this disease

23 approved, 14 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

Drug	Development status
Alclometasone Dipropionate	Approved (phase 4)
Betamethasone Dipropionate	Approved (phase 4)
Betamethasone Valerate	Approved (phase 4)
Clobetasol Propionate	Approved (phase 4)
Desonide	Approved (phase 4)
Desoximetasone	Approved (phase 4)
Diflorasone Diacetate	Approved (phase 4)
Fluocinolone Acetonide	Approved (phase 4)
Fluocinonide	Approved (phase 4)
Flurandrenolide	Approved (phase 4)
Fluticasone Propionate	Approved (phase 4)
Halcinonide	Approved (phase 4)
Halobetasol Propionate	Approved (phase 4)
Hydrocortisone	Approved (phase 4)
Hydrocortisone Acetate	Approved (phase 4)
Hydrocortisone Butyrate	Approved (phase 4)
Hydrocortisone Probutate	Approved (phase 4)
Mometasone Furoate	Approved (phase 4)
Prednicarbate	Approved (phase 4)
Salicylic Acid	Approved (phase 4)
Triamcinolone	Approved (phase 4)
Triamcinolone Acetonide	Approved (phase 4)
Vancomycin	Approved (phase 4)
Aztreonam	Phase 3 (in late-stage trials)
Cefazolin	Phase 3 (in late-stage trials)
Ceftazidime	Phase 3 (in late-stage trials)
Clindamycin	Phase 3 (in late-stage trials)
Daptomycin	Phase 3 (in late-stage trials)
Dexpanthenol	Phase 3 (in late-stage trials)
Floxacillin	Phase 3 (in late-stage trials)
Iclaprim	Phase 3 (in late-stage trials)
Linezolid	Phase 3 (in late-stage trials)
Metronidazole	Phase 3 (in late-stage trials)
Moxifloxacin	Phase 3 (in late-stage trials)
Tedizolid Phosphate	Phase 3 (in late-stage trials)
Teicoplanin	Phase 3 (in late-stage trials)
Tigecycline	Phase 3 (in late-stage trials)

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Calcipotriene, Fusidic Acid, Ingenol Mebutate, Lidocaine, Oritavancin, Prilocaine, Sulfamethoxazole, Tacrolimus Anhydrous, Tazarotene, Tetracaine, Trimethoprim, Urea.

Drug target analysis

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

Druggability breadth: 2 of 3 evidence-associated genes (67%) 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
EPHA5	PONATINIB

Top cohort targets by molecule count

Symbol	Molecules	Max phase
EPHA5	35	4
ZNF827	0	0
PCED1B	0	0

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
PONATINIB	4	EPHA5
TIVOZANIB	4	EPHA5
SORAFENIB	4	EPHA5
DASATINIB ANHYDROUS	4	EPHA5
REGORAFENIB	4	EPHA5
VANDETANIB	4	EPHA5
NILOTINIB	4	EPHA5
BOSUTINIB	4	EPHA5
SUNITINIB	4	EPHA5
DASATINIB	4	EPHA5
ERLOTINIB	4	EPHA5
CRIZOTINIB	4	EPHA5
GEFITINIB	4	EPHA5
SARACATINIB	3	EPHA5
LINIFANIB	3	EPHA5
CANERTINIB	3	EPHA5
ALVOCIDIB	3	EPHA5
LESTAURTINIB	3	EPHA5
DORAMAPIMOD	2	EPHA5
NEFLAMAPIMOD	2	EPHA5
FORETINIB	2	EPHA5
CEP-32496	2	EPHA5
BAFETINIB	2	EPHA5
SAPITINIB	2	EPHA5
GOLVATINIB	2	EPHA5
DANUSERTIB	2	EPHA5
R-406	2	EPHA5
MILCICLIB	2	EPHA5
PELITINIB	2	EPHA5
RO-3201195	1	EPHA5

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 1.

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

Symbol	Assays	Type breakdown
EPHA5	243	Binding:243
ZNF827	1	Binding:1

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
EPHA5	2.7.10.1	receptor protein-tyrosine kinase

Cohort genes with high screening signal

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

Symbol	ChEMBL assays
EPHA5	243

Pharmacogenomics

Cohort genes with a PharmGKB record: 3; 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)
PONATINIB	4	EPHA5
TIVOZANIB	4	EPHA5
SORAFENIB	4	EPHA5
DASATINIB ANHYDROUS	4	EPHA5
REGORAFENIB	4	EPHA5
VANDETANIB	4	EPHA5
NILOTINIB	4	EPHA5
BOSUTINIB	4	EPHA5
SUNITINIB	4	EPHA5
DASATINIB	4	EPHA5
ERLOTINIB	4	EPHA5
CRIZOTINIB	4	EPHA5
GEFITINIB	4	EPHA5
SARACATINIB	3	EPHA5
LINIFANIB	3	EPHA5
CANERTINIB	3	EPHA5
ALVOCIDIB	3	EPHA5
LESTAURTINIB	3	EPHA5
DORAMAPIMOD	2	EPHA5
NEFLAMAPIMOD	2	EPHA5
FORETINIB	2	EPHA5
CEP-32496	2	EPHA5
BAFETINIB	2	EPHA5
SAPITINIB	2	EPHA5
GOLVATINIB	2	EPHA5
DANUSERTIB	2	EPHA5
R-406	2	EPHA5
MILCICLIB	2	EPHA5
PELITINIB	2	EPHA5
RO-3201195	1	EPHA5

Druggability pyramid

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

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	1	EPHA5
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	2	ZNF827, PCED1B

Undrugged target profiles

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

Symbol	ChEMBL assays	Drugged partners (top 3)
ZNF827	1	—
PCED1B	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 14.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	11
PHASE2	2
EARLY_PHASE1	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT06136403	PHASE2	RECRUITING	A 44-week Monocentric Open Study Assessing the Efficacy and Safety of Deucravacitinib in Adults With Inflammatory Genodermatoses
NCT06509984	PHASE2	RECRUITING	A 20-Week Study Assessing the Efficacy of Apremilast in Patients with EB Simplex Generalized
NCT05287724	EARLY_PHASE1	COMPLETED	Defining N-Acetyl Cysteine as a Treatment for Inhibiting Prurogenic Stimuli
NCT07213154	Not specified	RECRUITING	Optical Imaging Scans for the Diagnosis of Skin Cancer in Patients With Lesions
NCT00001813	Not specified	COMPLETED	Examination of Clinical and Laboratory Abnormalities in Patients With Defective DNA Repair: Xeroderma Pigmentosum, Cockayne Syndrome, or Trichothiodystrophy
NCT02896569	Not specified	COMPLETED	Tolerability of Using a Post-Treatment Topical Adjuvant Combination Following Fractional Radiofrequency Ablation
NCT03873285	Not specified	UNKNOWN	Method of Genetic Analysis in Genodermatoses
NCT03937557	Not specified	WITHDRAWN	The Analysis of Hair Count in Healthy Taiwanese Persons by Trichoscope
NCT04731389	Not specified	COMPLETED	Digital Strategies for Patients With Chronic Dermatosis With Pruritus / Skin Picking Disorder
NCT04834167	Not specified	COMPLETED	OneDoc Picopulse™ for the Treatment of Melasma Among Malaysian Women
NCT05112744	Not specified	UNKNOWN	Alteration of Dermal Elastic Fibers During Calcifying Dermatosis: Structural Study Using Multiphoton Microscopy
NCT05127044	Not specified	COMPLETED	Characterization of Pre-Term Neonatal Skin
NCT05506644	Not specified	COMPLETED	Biofeedback for Psoriasis
NCT06042075	Not specified	UNKNOWN	Representation of Congenital Birthmarks

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
CRAVACITINIB	4	3
CHEMBL475165	0	1