LORICRIN

Summary

LORICRIN (loricrin cornified envelope precursor protein, HGNC:6663) is a protein-coding gene on chromosome 1q21.3, encoding Loricrin (P23490). Major keratinocyte cell envelope protein.

This gene encodes loricrin, a major protein component of the cornified cell envelope found in terminally differentiated epidermal cells. Mutations in this gene are associated with Vohwinkel’s syndrome and progressive symmetric erythrokeratoderma, both inherited skin diseases.

Source: NCBI Gene 4014 — RefSeq curated summary.

At a glance

• Gene–disease (curated): loricrin keratoderma (Strong, GenCC)
• GWAS associations: 3
• Clinical variants (ClinVar): 137 total — 4 pathogenic, 3 likely-pathogenic
• Phenotypes (HPO): 23
• MANE Select transcript: NM_000427

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:6663
Approved symbol	LORICRIN
Name	loricrin cornified envelope precursor protein
Location	1q21.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000203782
Ensembl biotype	protein_coding
OMIM	152445
Entrez	4014

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000368742

RefSeq mRNA: 1 — MANE Select: NM_000427 NM_000427

CCDS: CCDS30870

Canonical transcript exons

ENST00000368742 — 2 exons

Exon	Start	End
ENSE00001447884	153260927	153262124
ENSE00001447885	153259687	153259733

Expression profiles

Bgee: expression breadth ubiquitous, 155 present calls, max score 99.86.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 2.8299 / max 3121.1960, expressed in 36 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
5381	2.8299	36

Top tissues by expression

291 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
upper arm skin	UBERON:0004263	99.86	gold quality
upper leg skin	UBERON:0004262	99.82	gold quality
nipple	UBERON:0002030	99.80	gold quality
mammalian vulva	UBERON:0000997	99.72	gold quality
penis	UBERON:0000989	99.59	gold quality
skin of hip	UBERON:0001554	99.49	gold quality
skin of leg	UBERON:0001511	98.43	gold quality
skin of abdomen	UBERON:0001416	98.23	gold quality
zone of skin	UBERON:0000014	98.11	gold quality
gingiva	UBERON:0001828	87.59	gold quality
gingival epithelium	UBERON:0001949	84.98	gold quality
tongue squamous epithelium	UBERON:0006919	82.29	silver quality
amniotic fluid	UBERON:0000173	81.77	gold quality
cervix squamous epithelium	UBERON:0006922	80.29	silver quality
cervix epithelium	UBERON:0004801	77.09	gold quality
lower esophagus mucosa	UBERON:0035834	65.71	gold quality
gastrocnemius	UBERON:0001388	64.05	gold quality
oviduct epithelium	UBERON:0004804	63.35	silver quality
hair follicle	UBERON:0002073	61.07	gold quality
right frontal lobe	UBERON:0002810	60.67	gold quality
cingulate cortex	UBERON:0003027	59.77	gold quality
heart left ventricle	UBERON:0002084	59.67	gold quality
anterior cingulate cortex	UBERON:0009835	59.43	gold quality
right lung	UBERON:0002167	59.40	gold quality
squamous epithelium	UBERON:0006914	59.36	silver quality
hypothalamus	UBERON:0001898	59.08	gold quality
cardiac ventricle	UBERON:0002082	59.03	gold quality
popliteal artery	UBERON:0002250	58.98	gold quality
tibial artery	UBERON:0007610	58.92	gold quality
right atrium auricular region	UBERON:0006631	58.77	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.48

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): AP1, CREB1, FOS, GATA3, HOPX, JUN, JUNB, JUND, MED1, NCOA3, POU2F3, POU3F1, PPARG, SP1, SP3, TFAP2A, VDR, YY1

miRNA regulators (miRDB)

30 targeting LORICRIN, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-4778-3P	99.93	70.40	1818
HSA-MIR-450B-5P	99.92	71.48	3175
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-LET-7A-2-3P	99.87	70.53	1921
HSA-LET-7G-3P	99.85	70.43	1929
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-1273H-5P	99.77	66.32	2471
HSA-MIR-3617-5P	99.75	69.41	1968
HSA-MIR-641	99.75	69.35	1975
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-30B-3P	99.70	65.76	2325
HSA-MIR-3689A-3P	99.70	65.73	2306
HSA-MIR-3689B-3P	99.70	65.71	2311
HSA-MIR-3689C	99.70	65.71	2311
HSA-MIR-6779-5P	99.70	65.76	2363
HSA-MIR-518A-5P	99.70	69.01	2209
HSA-MIR-527	99.70	69.01	2209
HSA-MIR-7154-5P	99.69	70.52	1900
HSA-MIR-6883-5P	99.69	68.05	3785
HSA-MIR-7106-5P	99.53	67.47	3574
HSA-MIR-6799-5P	99.14	65.72	2093
HSA-MIR-6815-3P	99.13	68.98	1530
HSA-MIR-922	99.02	67.23	1838
HSA-MIR-3613-5P	98.40	68.91	604
HSA-MIR-30C-1-3P	97.80	66.36	1499
HSA-MIR-6857-3P	96.70	65.43	915
HSA-MIR-1281	92.96	65.73	260

Literature-anchored findings (GeneRIF, showing 24)

• regulation of gene expression requires interactions among multiple transcription factors in keratinocytes located in different compartments of the epidermis (PMID:12200429)
• Unique mutations in glycine-rich domain of mutant loricrin form arginine-rich nuclear localization sequences that disrupt differentiation of keratinocytes. (PMID:12615358)
• Barrier abnormality in loricrin keratoderma is linked to defective CE scaffold, resulting in increased extracellular permeability. (PMID:15102081)
• ruled out as a candidate for the PSORS4 locus. (PMID:15598222)
• report the clinical and molecular characterization of a new family with the recurrent 730insG LOR mutation, giving new insights in LK genotype-phenotype correlation (PMID:17953701)
• The expression of loricrin and involucrin in invovled and uninvolved skin of patients with atopic dermatitis is reported. (PMID:18166499)
• results give evidence that heterogeneous phenotypes of LK may be the result of genetic heterogeneity of loricrin mutations, and demonstrate that nuclear accumulation of mutant loricrin is due to the nuclear targeting sequences in the mutant C-terminus. (PMID:18844868)
• the deregulated increase in SPRR1A expression in chronic atopic skin lesions reflects an insufficient rise in SPRR transcripts, unable to compensate for the lack of LOR and thus contributing to the persistence of chronic atopic dermatitis skin lesions. (PMID:19672094)
• These findings suggest that inverse effects of PKCdelta and PKCeta on loricrin expression attributes to the expression of c-Jun and JunD. (PMID:20184865)
• VEGF release and the subsequent activation of VEGF receptor 2 link loricrin gene mutations to rapid cell proliferation in a cellular model of loricrin keratoderma. (PMID:20236940)
• There were no mutations found in the LOR gene and the true pathogenesis of progressive symmetrical erythrokeratodermia remains unknown. (PMID:21198793)
• identified mRNA transcripts from three genes CDSN, LOR and KRT9, showing strong over-expression in skin samples relative to samples from forensic body fluids, making them suitable markers for skin identification (PMID:21221983)
• We describe a young man who was a collodion baby and had the typical presentation of Loricrin keratoderma. Direct DNA sequencing identified a heterozygous mutation in the loricrin gene with a single G insertion, 730insG, present in (a) the patient (PMID:22831754)
• We found no mutations of Loricrin in two Progressive symmetrical erythrokeratoderma families. (PMID:23678955)
• Results describe a novel frameshift mutation leading to loricrin keratoderma presenting with colloidion membrane (PMID:25142840)
• two novel heterozygous frameshift mutations in exon 2 - c.646_647insGCAGCAGGTC, p.Gln216Argfs*123 and c.798_799dupT, p.Gly267Trpfs*69 in loricrin keratoderma patients (PMID:25234742)
• Studies on human keratinocytes recognized that loricrin expression was inversely related to the expression of the cyclin-dependent kinase inhibitor p21 (PMID:25896246)
• Authors report a multi-generation family with prominent ichthyosis and palmoplantar involvement due to a novel mutation in loricrin. (PMID:25965869)
• Letter: Knockdown of either filaggrin or loricrin increases the productions of interleukin (IL)-1alpha, IL-8, IL-18 and granulocyte macrophage colony-stimulating factor in stratified human keratinocytes. (PMID:26381575)
• Epidermal autophagy and beclin 1 regulator 1 and loricrin: a paradigm shift in the prognostication and stratification of the American Joint Committee on Cancer stage I melanomas. (PMID:31056744)
• S100A8 and S100A9 decreased the expression of skin barrier proteins, filaggrin and loricrin. (PMID:31322196)
• Regulation of Filaggrin, Loricrin, and Involucrin by IL-4, IL-13, IL-17A, IL-22, AHR, and NRF2: Pathogenic Implications in Atopic Dermatitis. (PMID:32751111)
• The c.323 G>C mutation in LORICRIN causes new-found late-onset autosomal dominant loricrin keratoderma in a Chinese Han Pedigree. (PMID:35346558)
• The Epidermal Transcriptome Analysis of a Novel c.639_642dup LORICRIN Variant-Delineation of the Loricrin Keratoderma Pathology. (PMID:37298411)

Cross-species orthologs

0 orthologs

Protein

Protein identifiers

Loricrin — P23490 (reviewed: P23490)

All UniProt accessions (1): P23490

UniProt curated annotations — full annotation on UniProt →

Function. Major keratinocyte cell envelope protein.

Subcellular location. Cytoplasm. Nucleus. Nucleoplasm.

Post-translational modifications. Substrate of transglutaminases. Some glutamines and lysines are cross-linked to other loricrin molecules and to SPRRs proteins. Contains inter- or intramolecular disulfide-bonds.

Disease relevance. Vohwinkel syndrome with ichthyosis (VSI) [MIM:604117] A variant form of Vohwinkel syndrome without hearing loss and associated with ichthyosiform dermatosis. Clinical features include palmoplantar keratoderma, pseudoainhum and ichthyosis. Compact hyperkeratosis with round retained nuclei and hypergranulosis is observed on skin biopsies. The disease is caused by variants affecting the gene represented in this entry.

RefSeq proteins (1): NP_000418* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR031700	Loricrin	Family

Pfam: PF15847

UniProt features (17 total): cross-link 8, sequence variant 3, region of interest 2, compositionally biased region 2, chain 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P23490-F1	44.91	0.00

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (8): 216, 312, 312, 89, 89, 154, 212, 213

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

ID	Pathway
R-HSA-6809371	Formation of the cornified envelope
R-HSA-9725554	Differentiation of Keratinocytes in Interfollicular Epidermis in Mammalian Skin
R-HSA-1266738	Developmental Biology
R-HSA-6805567	Keratinization
R-HSA-9734767	Developmental Cell Lineages

MSigDB gene sets: 156 (showing top): MORF_ITGA2, GOBP_EPITHELIUM_DEVELOPMENT, BASSO_B_LYMPHOCYTE_NETWORK, JAEGER_METASTASIS_DN, GCANCTGNY_MYOD_Q6, MORF_BRCA1, GOBP_PEPTIDE_CROSS_LINKING, TGACCTY_ERR1_Q2, MORF_RAD51L3, GOBP_EPIDERMAL_CELL_DIFFERENTIATION, AP1_Q4_01, MODULE_379, MORF_PRKCA, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_UP, GOTZMANN_EPITHELIAL_TO_MESENCHYMAL_TRANSITION_DN

GO Biological Process (4): peptide cross-linking (GO:0018149), keratinocyte differentiation (GO:0030216), keratinization (GO:0031424), cytoskeleton organization (GO:0007010)

GO Molecular Function (3): structural constituent of cytoskeleton (GO:0005200), structural constituent of skin epidermis (GO:0030280), protein binding (GO:0005515)

GO Cellular Component (5): cornified envelope (GO:0001533), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), cytosol (GO:0005829), nucleus (GO:0005634)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Developmental Biology	2
Keratinization	1
Developmental Cell Lineages of the Integumentary System	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
structural molecule activity	2
protein modification process	1
epidermal cell differentiation	1
skin development	1
keratinocyte differentiation	1
multicellular organismal process	1
organelle organization	1
cytoskeleton	1
cytoskeleton organization	1
binding	1
plasma membrane	1
nuclear lumen	1
intracellular anatomical structure	1
cytoplasm	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

898 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
LORICRIN	IVL	P07476	999
LORICRIN	FLG2	Q5D862	997
LORICRIN	FLG	P20930	996
LORICRIN	TCHH	Q07283	977
LORICRIN	KRT10	P13645	938
LORICRIN	KRT1	P04264	917
LORICRIN	TGM3	Q08188	899
LORICRIN	TGM1	P22735	867
LORICRIN	SPRR3	Q9UBC9	853
LORICRIN	SPRR1B	P22528	843
LORICRIN	SPRR1A	P35321	827
LORICRIN	CDSN	Q15517	799
LORICRIN	DSP	P15924	791
LORICRIN	KRT5	P13647	787
LORICRIN	CNFN	Q9BYD5	785

IntAct

23 interactions, top by confidence:

A	B	Type	Score
CCNC	MED19	psi-mi:“MI:0914”(association)	0.640
ZSCAN12	A2ML1	psi-mi:“MI:0914”(association)	0.530
ZDHHC23	GAPDHS	psi-mi:“MI:0914”(association)	0.530
B3GALNT1	DUSP14	psi-mi:“MI:0914”(association)	0.530
NDUFS5	NDUFS4	psi-mi:“MI:0914”(association)	0.530
DTL	DNAJA2	psi-mi:“MI:0914”(association)	0.530
Xpo1	IFT56	psi-mi:“MI:0914”(association)	0.350
PI4KA	A2ML1	psi-mi:“MI:0914”(association)	0.350
	AP3B1	psi-mi:“MI:0914”(association)	0.350
NELFE	H1-2	psi-mi:“MI:0914”(association)	0.350
ATG16L1	ESYT2	psi-mi:“MI:0914”(association)	0.350
GSKIP	A2ML1	psi-mi:“MI:0914”(association)	0.350
B3GALNT1	ALOX12B	psi-mi:“MI:0914”(association)	0.350
AAAS	LORICRIN	psi-mi:“MI:0914”(association)	0.350
ZNF550	A2ML1	psi-mi:“MI:0914”(association)	0.350
YAF2	A2ML1	psi-mi:“MI:0914”(association)	0.350
ZDHHC19	QSOX1	psi-mi:“MI:0914”(association)	0.350
THAP4	ALOX12B	psi-mi:“MI:0914”(association)	0.350
AMTN	SERPINB7	psi-mi:“MI:0914”(association)	0.350
POLG2	VSIG8	psi-mi:“MI:0914”(association)	0.350
FAM177A1	LORICRIN	psi-mi:“MI:0914”(association)	0.350
LORICRIN	VIM	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (39): LOR (Affinity Capture-MS), LOR (Affinity Capture-MS), LOR (Affinity Capture-MS), LOR (Affinity Capture-MS), LOR (Affinity Capture-MS), LOR (Affinity Capture-MS), LOR (Affinity Capture-MS), VIM (Two-hybrid), LOR (Reconstituted Complex), LOR (Reconstituted Complex), LOR (Reconstituted Complex), LOR (Reconstituted Complex), LOR (Reconstituted Complex), LOR (Positive Genetic), NELFE (Affinity Capture-MS)

ESM2 similar proteins: A0A286YEV6, A0A286YEX9, A0A286YEY9, A0A286YF01, A0A286YF46, A0A286YF60, A0A286YF77, A0A286YFB4, A0A286YFG1, O14633, P02438, P04459, P05687, P05688, P08131, P08175, P0DSO2, P20730, P23490, Q01642, Q01643, Q01644, Q01645, Q07627, Q3LI58, Q3LI59, Q3V2C1, Q5T750, Q5T754, Q5TA78, Q5TA79, Q5TA81, Q5TA82, Q5TCM9, Q5UR27, Q8IUC1, Q9BQ66, Q9BYP8, Q9BYQ5, Q9BYQ6

Diamond homologs: P18165, P23490

SIGNOR signaling

5 interactions.

A	Effect	B	Mechanism
HOPX	“up-regulates quantity by expression”	LORICRIN	“transcriptional regulation”
JUNB	“down-regulates quantity by repression”	LORICRIN	“transcriptional regulation”
JUN	“up-regulates quantity by expression”	LORICRIN	“transcriptional regulation”
SP3	“down-regulates quantity by repression”	LORICRIN	“transcriptional regulation”
SP1	“up-regulates quantity by expression”	LORICRIN	“transcriptional regulation”

Disease & clinical

Clinical variants and AI predictions

ClinVar

137 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	4
Likely pathogenic	3
Uncertain significance	93
Likely benign	17
Benign	14

Top pathogenic / likely-pathogenic (7)

Variant ID	HGVS	Classification
14419	NM_000427.3(LORICRIN):c.664dup (p.Gln222fs)	Pathogenic
1805407	NM_000427.3(LORICRIN):c.515dup (p.Gly173fs)	Pathogenic
2579955	NM_000427.3(LORICRIN):c.806dup (p.Ser270fs)	Pathogenic
279841	NM_000427.3(LORICRIN):c.684dup (p.Ser229fs)	Pathogenic
1324671	NM_000427.3(LORICRIN):c.624C>G (p.Tyr208Ter)	Likely pathogenic
1810236	NM_000427.3(LORICRIN):c.484G>T (p.Gly162Ter)	Likely pathogenic
817409	NM_000427.3(LORICRIN):c.673dup (p.Tyr225fs)	Likely pathogenic

SpliceAI

307 predictions. Top by Δscore:

Variant	Effect	Δscore
1:153259732:GG:G	donor_gain	0.9800
1:153259733:GG:G	donor_gain	0.9800
1:153259734:GT:G	donor_loss	0.9700
1:153259735:T:A	donor_loss	0.9700
1:153259734:G:GG	donor_gain	0.9600
1:153259730:TTGG:T	donor_gain	0.8400
1:153259729:TTTGG:T	donor_gain	0.8300
1:153259731:TGG:T	donor_gain	0.8200
1:153259732:GGG:G	donor_gain	0.8200
1:153260469:G:GT	donor_gain	0.7500
1:153260876:G:GG	donor_gain	0.7400
1:153259736:AAGT:A	donor_loss	0.7300
1:153261043:G:GA	donor_gain	0.7300
1:153260871:CCTCC:C	donor_gain	0.6700
1:153260780:AAAG:A	acceptor_gain	0.6500
1:153260873:TCCGT:T	donor_loss	0.6500
1:153260875:CGT:C	donor_loss	0.6500
1:153260876:G:GC	donor_loss	0.6500
1:153260877:T:G	donor_loss	0.6500
1:153260878:A:AC	donor_loss	0.6500
1:153260879:AG:A	donor_loss	0.6500
1:153260779:AAAAG:A	acceptor_gain	0.6400
1:153261042:T:TA	donor_gain	0.6400
1:153260340:C:T	donor_gain	0.6200
1:153260874:CC:C	donor_gain	0.6000
1:153260266:G:GT	donor_gain	0.5900
1:153260528:AG:A	donor_gain	0.5900
1:153260873:TCC:T	donor_gain	0.5900
1:153260106:GAGA:G	donor_gain	0.5800
1:153260107:A:T	donor_gain	0.5600

AlphaMissense

1955 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:153261874:T:A	W309R	0.996
1:153261874:T:C	W309R	0.996
1:153261876:G:C	W309C	0.993
1:153261876:G:T	W309C	0.993
1:153261861:G:C	K304N	0.988
1:153261861:G:T	K304N	0.988
1:153261859:A:G	K304E	0.979
1:153261858:G:C	Q303H	0.976
1:153261858:G:T	Q303H	0.976
1:153261885:A:C	K312N	0.971
1:153261885:A:T	K312N	0.971
1:153261860:A:C	K304T	0.968
1:153261855:G:C	Q302H	0.967
1:153261855:G:T	Q302H	0.967
1:153261875:G:C	W309S	0.963
1:153261864:G:C	Q305H	0.959
1:153261864:G:T	Q305H	0.959
1:153261884:A:T	K312I	0.959
1:153261860:A:T	K304M	0.956
1:153261869:C:A	P307H	0.955
1:153260964:A:C	K5N	0.950
1:153260964:A:T	K5N	0.950
1:153261851:C:T	T301I	0.947
1:153261849:G:C	Q300H	0.946
1:153261849:G:T	Q300H	0.946
1:153260961:G:C	Q4H	0.941
1:153260961:G:T	Q4H	0.941
1:153260967:G:C	K6N	0.939
1:153260967:G:T	K6N	0.939
1:153261874:T:G	W309G	0.939

dbSNP variants (sampled 300 via entrez): RS1000114609 (1:153261704 G>A), RS1001116290 (1:153260305 C>T), RS1001168823 (1:153260625 G>A), RS1002530240 (1:153259016 G>A), RS1002561196 (1:153259279 T>C), RS1003498408 (1:153258750 T>C), RS1004072714 (1:153259676 C>G), RS1004567812 (1:153257917 T>C,G), RS1006161180 (1:153261607 G>A), RS1007073915 (1:153257993 G>A), RS1007172025 (1:153258316 T>G), RS1007505705 (1:153259814 T>C), RS1009056713 (1:153258003 G>A), RS1009166771 (1:153258546 C>T), RS1010005227 (1:153258963 T>C)

Disease associations

OMIM: gene MIM:152445 | disease phenotypes: MIM:604117

GenCC curated gene-disease

Disease	Classification	Inheritance
loricrin keratoderma	Strong	Autosomal dominant

Mondo (1): loricrin keratoderma (MONDO:0011396)

Orphanet (1): Keratoderma hereditarium mutilans with ichthyosis (Orphanet:79395)

HPO phenotypes

23 total (23 of 23 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000407	Sensorineural hearing impairment
HP:0000707	Abnormality of the nervous system
HP:0000962	Hyperkeratosis
HP:0000972	Palmoplantar hyperkeratosis
HP:0000982	Palmoplantar keratoderma
HP:0001036	Parakeratosis
HP:0001595	Abnormal hair morphology
HP:0001596	Alopecia
HP:0001805	Onychogryphosis
HP:0007465	Honeycomb palmoplantar hyperkeratosis
HP:0007479	Congenital nonbullous ichthyosiform erythroderma
HP:0007503	Generalized ichthyosis
HP:0008404	Nail dystrophy
HP:0009775	Amniotic constriction ring
HP:0010491	Digital constriction ring
HP:0010783	Erythema
HP:0025092	Epidermal acanthosis
HP:0025114	Hypergranulosis
HP:0025525	Scaling skin on fingertip
HP:0032541	Knuckle pad
HP:0040162	Orthokeratosis
HP:0200035	Skin plaque

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST008916_87	Asthma	2.000000e-13
GCST012298_14	Schizophrenia, bipolar disorder or major depressive disorder x sex interaction	7.000000e-06
GCST012301_8	Schizophrenia, bipolar disorder or major depressive disorder x sex interaction	7.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0008343	sex interaction measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C565826	Vohwinkel Syndrome, Variant Form (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

29 total (human), top 29 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects methylation, decreases expression, increases abundance, increases expression	4
hydroquinone	increases expression	2
Calcium	increases expression, increases reaction, decreases reaction	2
Sodium Dodecyl Sulfate	decreases expression, increases expression	2
Tretinoin	decreases expression	2
2-methyl-4-isothiazolin-3-one	increases expression	1
arsenite	decreases expression, increases abundance	1
avobenzone	decreases expression	1
antimonite	increases abundance, decreases expression	1
CGP 52608	affects binding, increases reaction	1
SB 203580	decreases reaction, increases expression, decreases expression	1
2-(2-amino-3-methoxyphenyl)-4H-1-benzopyran-4-one	increases expression, increases reaction	1
Antimony Potassium Tartrate	decreases expression, increases abundance	1
Arsenates	decreases expression	1
Benzo(a)pyrene	increases methylation	1
Chromates	decreases expression	1
Copper	affects binding, decreases expression	1
Disulfiram	affects binding, decreases expression	1
Dust	affects cotreatment, affects expression, affects reaction	1
Hydrocortisone	decreases expression	1
Latex	decreases expression	1
Mustard Gas	increases reaction, decreases reaction, increases expression	1
Silicon Dioxide	increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Triclosan	decreases expression	1
Vanadates	decreases expression	1
beta-Naphthoflavone	decreases expression	1
Particulate Matter	decreases expression	1
Volatile Organic Compounds	decreases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.