CDSN

Summary

CDSN (corneodesmosin, HGNC:1802) is a protein-coding gene on chromosome 6p21.33, encoding Corneodesmosin (Q15517). Important for the epidermal barrier integrity.

This gene encodes a protein found in corneodesmosomes, which localize to human epidermis and other cornified squamous epithelia. The encoded protein undergoes a series of cleavages during corneocyte maturation. This gene is highly polymorphic in human populations, and variation has been associated with skin diseases such as psoriasis, hypotrichosis and peeling skin syndrome. The gene is located in the major histocompatibility complex (MHC) class I region on chromosome 6.

Source: NCBI Gene 1041 — RefSeq curated summary.

At a glance

• Gene–disease (curated): peeling skin syndrome 1 (Strong, GenCC) — +2 more curated relationships
• GWAS associations: 39
• Clinical variants (ClinVar): 167 total — 5 pathogenic, 4 likely-pathogenic
• Phenotypes (HPO): 34
• MANE Select transcript: NM_001264

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:1802
Approved symbol	CDSN
Name	corneodesmosin
Location	6p21.33
Locus type	gene with protein product
Status	Approved
Aliases	D6S586E
Ensembl gene	ENSG00000204539
Ensembl biotype	protein_coding
OMIM	602593
Entrez	1041

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000376288

RefSeq mRNA: 1 — MANE Select: NM_001264 NM_001264

CCDS: CCDS34389

Canonical transcript exons

ENST00000259726 — 0 exons

Expression profiles

Bgee: expression breadth ubiquitous, 101 present calls, max score 98.49.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 3.7283 / max 1295.9511, expressed in 152 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
72642	3.7283	152

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
skin of abdomen	UBERON:0001416	98.49	gold quality
zone of skin	UBERON:0000014	98.05	gold quality
skin of leg	UBERON:0001511	97.71	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	94.40	gold quality
lower esophagus mucosa	UBERON:0035834	55.33	gold quality
placenta	UBERON:0001987	52.80	gold quality
gastrocnemius	UBERON:0001388	52.75	gold quality
vagina	UBERON:0000996	50.89	gold quality
muscle of leg	UBERON:0001383	50.30	gold quality
skeletal muscle tissue	UBERON:0001134	49.47	gold quality
muscle tissue	UBERON:0002385	47.20	gold quality
tonsil	UBERON:0002372	46.22	gold quality
gall bladder	UBERON:0002110	45.81	gold quality
duodenum	UBERON:0002114	45.13	gold quality
body of uterus	UBERON:0009853	44.73	gold quality
heart left ventricle	UBERON:0002084	44.40	gold quality
right lobe of liver	UBERON:0001114	44.16	silver quality
right lung	UBERON:0002167	44.07	gold quality
myometrium	UBERON:0001296	43.96	gold quality
endometrium	UBERON:0001295	43.69	gold quality
islet of Langerhans	UBERON:0000006	43.07	gold quality
multicellular organism	UBERON:0000468	42.70	gold quality
blood	UBERON:0000178	42.02	gold quality
bone marrow	UBERON:0002371	41.86	gold quality
pancreas	UBERON:0001264	41.75	gold quality
uterine cervix	UBERON:0000002	41.54	gold quality
subcutaneous adipose tissue	UBERON:0002190	41.25	gold quality
colonic epithelium	UBERON:0000397	41.19	gold quality
fallopian tube	UBERON:0003889	41.19	gold quality
urinary bladder	UBERON:0001255	41.12	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.16

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

63 targeting CDSN, 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-1252-5P	100.00	69.80	2774
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-4455	100.00	65.48	1587
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-5193	100.00	67.26	1744
HSA-MIR-12118	100.00	65.88	1270
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-3173-3P	99.98	66.49	1217
HSA-MIR-6891-5P	99.98	66.53	1372
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-185-3P	99.95	67.01	1743
HSA-MIR-605-3P	99.88	69.22	1833
HSA-MIR-4779	99.86	66.50	1583
HSA-MIR-629-3P	99.85	67.99	1875
HSA-MIR-6756-5P	99.82	67.97	2466
HSA-MIR-6842-5P	99.80	67.54	1587
HSA-MIR-7110-5P	99.80	67.84	1712
HSA-MIR-636	99.80	69.58	1500
HSA-MIR-4713-5P	99.78	67.80	1794
HSA-MIR-5002-5P	99.76	70.84	1763
HSA-MIR-2116-3P	99.74	64.32	889
HSA-MIR-6745	99.74	65.33	1321
HSA-MIR-6766-5P	99.68	67.70	2325
HSA-MIR-3202	99.66	67.70	2737
HSA-MIR-6126	99.62	68.09	996
HSA-MIR-6797-5P	99.61	66.55	2084
HSA-MIR-6752-5P	99.59	67.32	1243
HSA-MIR-4276	99.56	67.66	2514

Literature-anchored findings (GeneRIF, showing 22)

• identified nonsense mutations in the gene CDSN (encoding corneodesmosin) in three families suffering from hypotrichosis simplex of the scalp (PMID:12754508)
• non-glycosylated CDSN is able to spontaneously form large homo-oligomers in vitro and that the N-terminal glycine loop domain is necessary for the formation of these macromolecular complexes. (PMID:15086562)
• Association analyses show that haplotypes bearing CDSN*971T maps to a RNA stability motif and confers psoriasis susceptibility in a wide range of ethnic groups. (PMID:15333584)
• phenotype of Netherton syndrome is a consequence of desmosomal fragility associated with premature proteolysis of corneodesmosin (PMID:15466487)
• Data identifies hypotrichosis simplex of the scalp as a human amyloidosis related to the aggregation of natively unfolded (mut)CDSN polypeptides into amyloid fibrils. (PMID:20448140)
• Lack of corneodesmosin causes an epidermal barrier defect supposed to account for the predisposition to atopic diseases. (PMID:20691404)
• Study of consangunity in a large family points to a homozygous nonesense mutation of the gene coding for corneodesmosin. (PMID:21134591)
• The distribution of corneodesmosin on the surface of the stratum corneum was mapped at the nanoscale using atomic force microscopy. (PMID:21182673)
• 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)
• CDSN plays a vital role in the structural and functional integrity of the epidermis and the hair follicle integrity by preventing the rupture of corneodesmosome. (PMID:21628128)
• CDSN -619C/T polymorphism may not be associated with susceptibility to psoriasis. (PMID:22033905)
• A nonsense mutation (C717G) in cDNA sequence of the CDSN gene was identified in all three patients of the family. (PMID:22875505)
• we report a patient with PSD caused by a novel homozygous large deletion in the 6p21.3 region encompassing the CDSN gene, which abrogates CDSN expression (PMID:24116970)
• PSORS1C1/CDSN gene may play a pathogenic role in ankylosing spondylitis (PMID:24210685)
• Case Report: homozygous deletion of CDSN was considered to be responsible for generalized peeling skin disease. (PMID:24794518)
• Investigated potential direct protein-protein interactions between six late cornified envelope (LCE) proteins and two corneodesmosin sequence variants. Partial colocalization of LCE2 and CDSN was observed in normal and psoriasis skin. (PMID:25078048)
• We found that a burden of low-frequency coding variants in N4BP2, CDSN, PRTG, and AHRR were associated with increased risk of Nonsyndromic cleft lip with or without cleft palate (NSCL/P) . Low-frequency variants in other genes were associated with decreased risk of NSCL/P. These results demonstrate that low-frequency variants contribute to the genetic etiology of NSCL/P (PMID:28425186)
• results show, for the first time, the male-only associations of the PSORS1C3 gene with psoriasis risk and of the PSORS1C1/CDSN gene with severity of disease. However, the age dependent associations need to be validated in larger sample sizes as well as in other populations. (PMID:29589160)
• Mutations in the CDSN gene cause peeling skin disease and hypotrichosis simplex of the scalp. (PMID:31663161)
• Treatment of hereditary hypotrichosis simplex of the scalp with topical gentamicin. (PMID:31746457)
• Identification of B-cell-related HSPG2 and CDSN as susceptibility loci for Kawasaki disease. (PMID:37453912)
• Mature IL-36gamma Induces Stratum Corneum Exfoliation in Generalized Pustular Psoriasis by Suppressing Corneodesmosin. (PMID:37827276)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Cdsn	ENSMUSG00000039518
rattus_norvegicus	Cdsn	ENSRNOG00000050215

Protein

Protein identifiers

Corneodesmosin — Q15517 (reviewed: Q15517)

Alternative names: S protein

All UniProt accessions (1): Q15517

UniProt curated annotations — full annotation on UniProt →

Function. Important for the epidermal barrier integrity.

Subcellular location. Secreted.

Tissue specificity. Exclusively expressed in skin.

Disease relevance. Hypotrichosis 2 (HYPT2) [MIM:146520] A condition characterized by the presence of less than the normal amount of hair. Affected individuals have normal hair in early childhood but experience progressive hair loss limited to the scalp beginning in the middle of the first decade and almost complete baldness by the third decade. Body hair, beard, eyebrows, axillary hair, teeth, and nails develop normally. HYPT2 inheritance is autosomal dominant. The disease is caused by variants affecting the gene represented in this entry. Peeling skin syndrome 1 (PSS1) [MIM:270300] A genodermatosis characterized by generalized, continuous shedding of the outer layers of the epidermis. Two main PSS subtypes have been suggested. Patients with non-inflammatory PSS (type A) manifest white scaling, with painless and easy removal of the skin, irritation when in contact with water, dust and sand, and no history of erythema, pruritis or atopy. Inflammatory PSS (type B) is associated with generalized erythema, pruritus and atopy. It is an ichthyosiform erythroderma characterized by lifelong patchy peeling of the entire skin with onset at birth or shortly after. Several patients have been reported with high IgE levels. The disease is caused by variants affecting the gene represented in this entry. CDNS mutations are responsible for generalized, inflammatory peeling skin syndrome type B.

Polymorphism. Genetic variation in CDSN may be associated with susceptibility to psoriasis [MIM:177900]. Various CDSN alleles are known including alleles 1.11, 1.21, 1.31, 1.32, 1.41, 1.42, 1.43, 1.51, 1.52, 2.11, 2.21, 2.22 and 2.23.

RefSeq proteins (1): NP_001255* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR026087	Corneodesmosin	Family

UniProt features (27 total): sequence variant 13, compositionally biased region 7, region of interest 2, sequence conflict 2, signal peptide 1, chain 1, glycosylation site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q15517-F1	38.13	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.

Glycosylation sites (1): 172

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-6809371	Formation of the cornified envelope
R-HSA-1266738	Developmental Biology
R-HSA-6805567	Keratinization

MSigDB gene sets: 0 (showing top):

GO Biological Process (8): corneocyte desquamation (GO:0003336), cell adhesion (GO:0007155), epidermis development (GO:0008544), keratinocyte differentiation (GO:0030216), skin morphogenesis (GO:0043589), cell-cell adhesion (GO:0098609), negative regulation of cornification (GO:1905716), amyloid fibril formation (GO:1990000)

GO Molecular Function (1): protein homodimerization activity (GO:0042803)

GO Cellular Component (5): cornified envelope (GO:0001533), extracellular region (GO:0005576), plasma membrane (GO:0005886), cell-cell junction (GO:0005911), desmosome (GO:0030057)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Keratinization	1
Developmental Biology	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
skin development	2
corneocyte development	1
delamination	1
cellular process	1
tissue development	1
epidermal cell differentiation	1
animal organ morphogenesis	1
cell adhesion	1
negative regulation of programmed cell death	1
cornification	1
regulation of cornification	1
protein metabolic process	1
supramolecular fiber organization	1
identical protein binding	1
protein dimerization activity	1
plasma membrane	1
cellular anatomical structure	1
membrane	1
cell periphery	1
anchoring junction	1
cell-cell junction	1

Protein interactions and networks

STRING

1012 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CDSN	DSG1	Q02413	995
CDSN	DSC1	Q08554	995
CDSN	PSORS1C1	Q9UIG5	945
CDSN	CCHCR1	Q8TD31	919
CDSN	HLA-C	P04222	845
CDSN	KLK7	P49862	804
CDSN	LORICRIN	P23490	799
CDSN	TGM5	O43548	741
CDSN	KLK6	Q92876	735
CDSN	SPINK5	Q9NQ38	728
CDSN	TGM3	Q08188	703
CDSN	DSG4	Q86SJ6	688
CDSN	KRT10	P13645	681
CDSN	KRT1	P04264	670
CDSN	FLG2	Q5D862	669

IntAct

75 interactions, top by confidence:

A	B	Type	Score
FANCG	FANCA	psi-mi:“MI:0914”(association)	0.960
OAZ3	AZIN1	psi-mi:“MI:0914”(association)	0.800
ATF2	BACH1	psi-mi:“MI:0914”(association)	0.780
JADE1	KAT7	psi-mi:“MI:0914”(association)	0.720
RPP14	RPP40	psi-mi:“MI:0914”(association)	0.670
POLR2L	RCCD1	psi-mi:“MI:0914”(association)	0.640
CCNC	MED19	psi-mi:“MI:0914”(association)	0.640
ALDH3A1	RCCD1	psi-mi:“MI:0914”(association)	0.640
CETN1	SFI1	psi-mi:“MI:0914”(association)	0.640
CFAP298	PEX7	psi-mi:“MI:0914”(association)	0.620
CA8	IGLL5	psi-mi:“MI:0914”(association)	0.530
CCDC51	TGM5	psi-mi:“MI:0914”(association)	0.530
MMRN1	CTSV	psi-mi:“MI:0914”(association)	0.530
PDPK1	PDPK1	psi-mi:“MI:0914”(association)	0.530
RAB9B	CHM	psi-mi:“MI:0914”(association)	0.530
CLINT1	PIK3C2A	psi-mi:“MI:0914”(association)	0.530
DYNC1H1	CDSN	psi-mi:“MI:0915”(physical association)	0.400
CDSN	CEP55	psi-mi:“MI:0915”(physical association)	0.370
CDSN	ZDHHC17	psi-mi:“MI:0915”(physical association)	0.370
CD81	HIP1R	psi-mi:“MI:0914”(association)	0.350
NFKB1	NFKB1	psi-mi:“MI:0914”(association)	0.350
M	NPEPPSL1	psi-mi:“MI:0914”(association)	0.350
PI4KA	A2ML1	psi-mi:“MI:0914”(association)	0.350
GPATCH2L	A2ML1	psi-mi:“MI:0914”(association)	0.350
VAV1	CHEK1	psi-mi:“MI:0914”(association)	0.350
SLX4	MYO1C	psi-mi:“MI:0914”(association)	0.350

BioGRID (136): CEP55 (Two-hybrid), CDSN (Two-hybrid), CDSN (Affinity Capture-MS), CDSN (Affinity Capture-MS), CDSN (Affinity Capture-MS), CDSN (Affinity Capture-MS), CDSN (Affinity Capture-MS), CDSN (Affinity Capture-MS), CDSN (Affinity Capture-MS), CDSN (Affinity Capture-MS), CDSN (Affinity Capture-MS), CDSN (Affinity Capture-MS), CDSN (Affinity Capture-MS), CDSN (Affinity Capture-MS), CDSN (Affinity Capture-MS)

ESM2 similar proteins: A0A0D1CVX2, A0A172M4N0, A2VE23, B3A0P1, B3A0P6, B3A0Q2, B3A0Q7, D1FQ14, F1NSM7, G5EC21, H2A0M1, K9N4Q4, O19084, O36415, O46203, O55196, O84462, P02671, P02672, P04279, P24804, P34468, Q04536, Q04807, Q15517, Q1XI13, Q27002, Q5TM45, Q6AYN3, Q6E0U4, Q6GX35, Q6P253, Q6UX39, Q6UXA7, Q7TPC1, Q7YR44, Q80Y39, Q86HP9, Q8BM15, Q8K4L6

Diamond homologs: O19084, Q15517, Q5TM45, Q7TPC1, Q7YR44

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	5
Likely pathogenic	4
Uncertain significance	74
Likely benign	24
Benign	50

Top pathogenic / likely-pathogenic (9)

Variant ID	HGVS	Classification
157563	NM_001264.5(CDSN):c.746del (p.Gly249fs)	Pathogenic
157565	NM_001264.5(CDSN):c.424G>T (p.Gly142Ter)	Pathogenic
30269	NM_001264.5(CDSN):c.175A>T (p.Lys59Ter)	Pathogenic
6997	NM_001264.5(CDSN):c.643C>T (p.Gln215Ter)	Pathogenic
6998	NM_001264.5(CDSN):c.598C>T (p.Gln200Ter)	Pathogenic
2444035	NM_001264.5(CDSN):c.484C>T (p.Gln162Ter)	Likely pathogenic
2632545	NM_001264.5(CDSN):c.583del (p.Ser195fs)	Likely pathogenic
3393421	NM_001264.5(CDSN):c.30dup (p.Arg11fs)	Likely pathogenic
802195	NM_001264.5(CDSN):c.1459G>A (p.Gly487Ser)	Likely pathogenic

SpliceAI

284 predictions. Top by Δscore:

Variant	Effect	Δscore
6:31117527:TCCCT:T	acceptor_loss	1.0000
6:31117529:CCTG:C	acceptor_loss	1.0000
6:31117530:C:CC	acceptor_gain	1.0000
6:31117530:CTGT:C	acceptor_loss	1.0000
6:31117525:GGTCC:G	acceptor_gain	0.9900
6:31117526:GTCC:G	acceptor_gain	0.9900
6:31117527:TCC:T	acceptor_gain	0.9900
6:31117528:CC:C	acceptor_gain	0.9900
6:31117528:CCC:C	acceptor_gain	0.9900
6:31117529:CC:C	acceptor_gain	0.9900
6:31117531:T:C	acceptor_loss	0.9900
6:31117532:G:GC	acceptor_gain	0.9700
6:31120329:TCCTA:T	donor_loss	0.9600
6:31120330:CCTAC:C	donor_loss	0.9600
6:31120331:CTACC:C	donor_loss	0.9600
6:31120332:TA:T	donor_loss	0.9600
6:31120334:C:G	donor_loss	0.9600
6:31120335:C:A	donor_loss	0.9500
6:31117445:G:GG	donor_gain	0.9100
6:31120328:CTCCT:C	donor_loss	0.9100
6:31115345:GCCCC:G	donor_gain	0.8800
6:31115389:G:GT	donor_gain	0.8800
6:31115389:G:T	donor_gain	0.8700
6:31115320:G:GT	donor_gain	0.8500
6:31119635:ATG:A	donor_gain	0.8300
6:31115256:C:T	donor_gain	0.8200
6:31115128:G:A	acceptor_gain	0.8000
6:31117472:A:AG	donor_gain	0.8000
6:31117530:C:T	acceptor_gain	0.7700
6:31115127:T:TA	acceptor_gain	0.7600

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000602109 (6:31121823 G>A,C), RS1000949975 (6:31122052 A>G), RS1001140627 (6:31122145 C>A), RS1001162849 (6:31118426 G>C), RS1001920328 (6:31121381 G>A), RS1002163875 (6:31117331 G>A,T), RS1002309004 (6:31121679 T>C), RS1002838264 (6:31119829 C>T), RS1003300670 (6:31114677 T>C), RS1003456903 (6:31120242 G>C), RS1004010271 (6:31120220 C>A,T), RS1004466808 (6:31119798 C>G), RS1004788058 (6:31118298 A>G), RS1005160375 (6:31121344 C>T), RS1005438333 (6:31118629 T>C)

Disease associations

OMIM: gene MIM:602593 | disease phenotypes: MIM:146520, MIM:270300

GenCC curated gene-disease

Disease	Classification	Inheritance
hypotrichosis 2	Strong	Autosomal dominant
peeling skin syndrome 1	Strong	Autosomal recessive
hypotrichosis simplex of the scalp	Supportive	Autosomal dominant

Mondo (3): hypotrichosis 2 (MONDO:0007805), peeling skin syndrome 1 (MONDO:0024548), hypotrichosis simplex of the scalp (MONDO:0019575)

Orphanet (3): Hypotrichosis simplex of the scalp (Orphanet:90368), Generalized peeling skin syndrome (Orphanet:263543), Peeling skin syndrome type B (Orphanet:263553)

HPO phenotypes

34 total (30 of 34 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000164	Abnormality of the dentition
HP:0000499	Abnormal eyelash morphology
HP:0000534	Abnormal eyebrow morphology
HP:0000962	Hyperkeratosis
HP:0000989	Pruritus
HP:0001019	Erythroderma
HP:0001036	Parakeratosis
HP:0001047	Atopic dermatitis
HP:0001597	Abnormal nail morphology
HP:0001806	Onycholysis
HP:0001880	Increased total eosinophil count
HP:0002099	Asthma
HP:0002209	Sparse scalp hair
HP:0002213	Fine hair
HP:0002293	Alopecia of scalp
HP:0002299	Brittle hair
HP:0002550	Absent facial hair
HP:0003193	Allergic rhinitis
HP:0003212	Increased circulating IgE concentration
HP:0003621	Juvenile onset
HP:0003623	Neonatal onset
HP:0004322	Short stature
HP:0004528	Generalized hypotrichosis
HP:0007410	Palmoplantar hyperhidrosis
HP:0007550	Hypohidrosis or hyperhidrosis
HP:0008404	Nail dystrophy
HP:0025092	Epidermal acanthosis
HP:0034838	Cleavage at junction of stratum corneum and stratum granulosum

GWAS associations

39 associations (top):

Study	Trait	p-value
GCST000549_2	HIV-1 control	8.000000e-08
GCST000589_3	White blood cell count	7.000000e-09
GCST001137_9	White blood cell count	4.000000e-13
GCST001779_4	Hematology traits	5.000000e-07
GCST002140_3	Multiple myeloma	1.000000e-10
GCST004131_25	Inflammatory bowel disease	2.000000e-31
GCST004133_79	Ulcerative colitis	5.000000e-65
GCST004521_103	Autism spectrum disorder or schizophrenia	2.000000e-08
GCST004521_114	Autism spectrum disorder or schizophrenia	3.000000e-17
GCST004521_117	Autism spectrum disorder or schizophrenia	3.000000e-15
GCST004521_126	Autism spectrum disorder or schizophrenia	2.000000e-10
GCST004521_132	Autism spectrum disorder or schizophrenia	2.000000e-09
GCST004521_16	Autism spectrum disorder or schizophrenia	2.000000e-12
GCST004521_19	Autism spectrum disorder or schizophrenia	2.000000e-12
GCST004521_2	Autism spectrum disorder or schizophrenia	2.000000e-16
GCST004521_209	Autism spectrum disorder or schizophrenia	5.000000e-16
GCST004521_210	Autism spectrum disorder or schizophrenia	5.000000e-15
GCST004521_211	Autism spectrum disorder or schizophrenia	5.000000e-15
GCST004521_229	Autism spectrum disorder or schizophrenia	4.000000e-11
GCST004521_257	Autism spectrum disorder or schizophrenia	6.000000e-10
GCST004521_265	Autism spectrum disorder or schizophrenia	7.000000e-14
GCST004521_27	Autism spectrum disorder or schizophrenia	1.000000e-09
GCST004521_282	Autism spectrum disorder or schizophrenia	5.000000e-09
GCST004521_295	Autism spectrum disorder or schizophrenia	6.000000e-18
GCST004521_3	Autism spectrum disorder or schizophrenia	2.000000e-15
GCST004521_48	Autism spectrum disorder or schizophrenia	1.000000e-09
GCST004521_60	Autism spectrum disorder or schizophrenia	1.000000e-11
GCST004521_70	Autism spectrum disorder or schizophrenia	8.000000e-20
GCST004946_173	Schizophrenia	2.000000e-08
GCST006575_5	Takayasu arteritis	2.000000e-10

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0000180	HIV-1 infection
EFO:0008579	risk-taking behaviour
EFO:0004509	hemoglobin measurement
EFO:0008039	BMI-adjusted hip circumference

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C564143	Hypotrichosis Simplex of Scalp (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB clinical annotations

1 annotations.

Variant	Type	Level	Drugs	Phenotypes
rs3130985	Toxicity	3	carboplatin;gemcitabine	Non-Small Cell Lung Carcinoma;Thrombocytopenia

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs3130985	CDSN, PSORS1C1	3	2.50	1	carboplatin;gemcitabine

CTD chemical–gene interactions

21 total (human), top 21 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Tobacco Smoke Pollution	affects expression, decreases expression	2
urushiol	increases expression	1
pirinixic acid	affects binding, decreases expression, increases activity	1
bisphenol A	affects cotreatment, increases methylation	1
sodium arsenate	increases abundance, decreases expression	1
aflatoxin B2	decreases methylation	1
hydroquinone	increases expression	1
CGP 52608	affects binding, increases reaction	1
rofecoxib	affects expression	1
Resveratrol	affects cotreatment, decreases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Acetaminophen	decreases expression	1
Aerosols	increases expression	1
Amphotericin B	increases expression	1
Arsenic	decreases expression, increases abundance	1
Cisplatin	decreases expression	1
Ibuprofen	affects expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Cadmium Chloride	increases expression	1
Lactic Acid	decreases expression	1
S-Nitrosoglutathione	decreases expression	1

Clinical trials (associated diseases)

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