CDSN (corneodesmosin)

Gene

• Entrez ID: 1041
• Gene name: Corneodesmosin
• Gene symbol: CDSN
• Synonyms (NCBI Gene): HTSS, HTSS1, HYPT2, PSS, PSS1
• Chromosome: 6
• Chromosome location: 6p21.33
• Summary: 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 pop

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT882617	hsa-miR-1	CLIP-seq
MIRT882618	hsa-miR-1208	CLIP-seq
MIRT882619	hsa-miR-1245b-3p	CLIP-seq
MIRT882620	hsa-miR-206	CLIP-seq
MIRT882621	hsa-miR-3125	CLIP-seq
MIRT882622	hsa-miR-3165	CLIP-seq
MIRT882623	hsa-miR-3179	CLIP-seq
MIRT882624	hsa-miR-3180-5p	CLIP-seq
MIRT882625	hsa-miR-3184	CLIP-seq
MIRT882626	hsa-miR-3186-5p	CLIP-seq
MIRT882627	hsa-miR-3202	CLIP-seq
MIRT882628	hsa-miR-3673	CLIP-seq
MIRT882629	hsa-miR-3677-5p	CLIP-seq
MIRT882630	hsa-miR-3916	CLIP-seq
MIRT882631	hsa-miR-3937	CLIP-seq
MIRT882632	hsa-miR-3974	CLIP-seq
MIRT882633	hsa-miR-423-5p	CLIP-seq
MIRT882634	hsa-miR-4252	CLIP-seq
MIRT882635	hsa-miR-4271	CLIP-seq
MIRT882636	hsa-miR-4276	CLIP-seq
MIRT882637	hsa-miR-4318	CLIP-seq
MIRT882638	hsa-miR-4476	CLIP-seq
MIRT882639	hsa-miR-4512	CLIP-seq
MIRT882640	hsa-miR-452	CLIP-seq
MIRT882641	hsa-miR-4656	CLIP-seq
MIRT882642	hsa-miR-4676-3p	CLIP-seq
MIRT882643	hsa-miR-4688	CLIP-seq
MIRT882644	hsa-miR-4697-3p	CLIP-seq
MIRT882645	hsa-miR-4701-5p	CLIP-seq
MIRT882646	hsa-miR-4725-3p	CLIP-seq
MIRT882647	hsa-miR-4778-3p	CLIP-seq
MIRT882648	hsa-miR-4796-3p	CLIP-seq
MIRT882649	hsa-miR-520a-5p	CLIP-seq
MIRT882650	hsa-miR-525-5p	CLIP-seq
MIRT882651	hsa-miR-548t	CLIP-seq
MIRT882652	hsa-miR-588	CLIP-seq
MIRT882653	hsa-miR-613	CLIP-seq
MIRT1961523	hsa-miR-198	CLIP-seq
MIRT1961524	hsa-miR-2110	CLIP-seq
MIRT1961525	hsa-miR-219-2-3p	CLIP-seq
MIRT1961526	hsa-miR-3122	CLIP-seq
MIRT1961527	hsa-miR-3127-5p	CLIP-seq
MIRT1961528	hsa-miR-3144-5p	CLIP-seq
MIRT1961529	hsa-miR-3147	CLIP-seq
MIRT1961530	hsa-miR-3150a-3p	CLIP-seq
MIRT1961531	hsa-miR-3173-3p	CLIP-seq
MIRT1961532	hsa-miR-3191	CLIP-seq
MIRT1961533	hsa-miR-3619-3p	CLIP-seq
MIRT1961534	hsa-miR-3650	CLIP-seq
MIRT1961535	hsa-miR-3692	CLIP-seq
MIRT1961536	hsa-miR-3913-5p	CLIP-seq
MIRT1961537	hsa-miR-3936	CLIP-seq
MIRT1961538	hsa-miR-4425	CLIP-seq
MIRT1961539	hsa-miR-4455	CLIP-seq
MIRT1961540	hsa-miR-4506	CLIP-seq
MIRT1961541	hsa-miR-4533	CLIP-seq
MIRT1961542	hsa-miR-4652-5p	CLIP-seq
MIRT1961543	hsa-miR-4661-3p	CLIP-seq
MIRT1961544	hsa-miR-4685-5p	CLIP-seq
MIRT1961545	hsa-miR-4694-5p	CLIP-seq
MIRT1961546	hsa-miR-4738-3p	CLIP-seq
MIRT1961547	hsa-miR-4747-5p	CLIP-seq
MIRT1961548	hsa-miR-4776-5p	CLIP-seq
MIRT1961549	hsa-miR-4779	CLIP-seq
MIRT1961550	hsa-miR-580	CLIP-seq
MIRT1961551	hsa-miR-609	CLIP-seq
MIRT1961552	hsa-miR-665	CLIP-seq
MIRT1961553	hsa-miR-888	CLIP-seq
MIRT1961554	hsa-miR-936	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001533	Component	Cornified envelope	IDA	9395522
GO:0001533	Component	Cornified envelope	TAS
GO:0003336	Process	Corneocyte desquamation	IMP	26014679
GO:0005576	Component	Extracellular region	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005911	Component	Cell-cell junction	TAS	9395522
GO:0007155	Process	Cell adhesion	TAS	9395522
GO:0008544	Process	Epidermis development	TAS	9395522
GO:0030057	Component	Desmosome	IDA	11279026, 26014679
GO:0030057	Component	Desmosome	NAS	9395522
GO:0030216	Process	Keratinocyte differentiation	NAS	8415725
GO:0042803	Function	Protein homodimerization activity	IBA
GO:0042803	Function	Protein homodimerization activity	IDA	15086562
GO:0043589	Process	Skin morphogenesis	IEA
GO:0043589	Process	Skin morphogenesis	IMP	20691404, 26014679
GO:0098609	Process	Cell-cell adhesion	IBA
GO:0098609	Process	Cell-cell adhesion	IDA	11739386
GO:1905716	Process	Negative regulation of cornification	IMP	26014679
GO:1990000	Process	Amyloid fibril formation	EXP	20448140
GO:1990000	Process	Amyloid fibril formation	IDA	20448140

Other IDs

• MIM: 602593
• HGNC: 1802
• e!Ensembl: ENSG00000204539

Protein

• UniProt ID: Q15517
• Protein name: Corneodesmosin (S protein)
• Protein function: Important for the epidermal barrier integrity.
• Tissue specificity: TISSUE SPECIFICITY: Exclusively expressed in skin.
• Sequence:

  MGSSRAPWMGRVGGHGMMALLLAGLLLPGTLAKSIGTFSDPCKDPTRITSPNDPCLTGKG
  DSSGFSSYSGSSSSGSSISSARSSGGGSSGSSSGSSIAQGGSAGSFKPGTGYSQVSYSSG
  SGSSLQGASGSSQLGSSSSHSGNSGSHSGSSSSHSSSSSSFQFSSSSFQVGNGSALPTND
  NSYRGILNPSQPGQSSSSSQTSGVSSSGQSVSSNQRPCSSDIPDSPCSGGPIVSHSGPYI
  PSSHSVSGGQRPVVVVVDQHGSGAPGVVQGPPCSNGGLPGKPCPPITSVDKSYGGYEVVG
  GSSDSYLVPGMTYSKGKIYPVGYFTKENPVKGSPGVPSFAAGPPISEGKYFSSNPIIPSQ
  SAASSAIAFQPVGTGGVQLCGGGSTGSKGPCSPSSSRVPSSSSISSSSGSPYHPCGSASQ
  SPCSPPGTGSFSSSSSSQSSGKIILQPCGSKSSSSGHPCMSVSSLTLTGGPDGSPHPDPS
  AGAKPCGSSSAGKIPCRSIRDILAQVKPLGPQLADPEVFLPQGELLDSP

• Sequence length: 529

Pathways

Reactome:

Formation of the cornified envelope

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
CDSN-related disorder	Likely pathogenic	rs2481088704	RCV003406192	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypotrichosis 2	Pathogenic	rs121917819, rs121917820	RCV000007412 RCV000007413	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Peeling skin syndrome 1	Pathogenic; Likely pathogenic	rs672601343, rs606231275, rs2481089559, rs387906841, rs1246486951	RCV000144907 RCV000144909 RCV003152833 RCV000023198 RCV000987665	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTRICHOSIS SIMPLEX OF SCALP	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTRICHOSIS SIMPLEX OF THE SCALP	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEELING SKIN SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEELING SKIN SYNDROME TYPE B	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATIC DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLEROSING CHOLANGITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alopecia	Alopecia	BEFREE	20448140		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	28243900, 28379109, 29779574, 31088400, 31470635, 31650646		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	28243900, 28379109, 29779574, 31088400, 31470635, 31650646		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	30178172		★☆☆☆☆ Found in Text Mining only
Asthenozoospermia	Asthenozoospermia	BEFREE	29849492		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	16096103		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	GWASCAT_DG	27611488		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atherosclerosis	Atherosclerosis	BEFREE	30178172		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	30442375		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	GWASDB_DG	23001997		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	30056171, 8915579		★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood Coagulation Disorders	BEFREE	23321260		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	28554822		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	30178172		★☆☆☆☆ Found in Text Mining only
Cholesteatoma	Cholesteatoma	BEFREE	27390311		★☆☆☆☆ Found in Text Mining only
Chromosome 11p11.2 Deletion Syndrome	11p11.2 Deletion Syndrome	BEFREE	22146835, 25653495, 28513994, 31539650		★☆☆☆☆ Found in Text Mining only
Chronic Periodontitis	Periodontitis	BEFREE	8655761		★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	28425186	Stimulate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	12530058		★☆☆☆☆ Found in Text Mining only
Connective Tissue Diseases	Connective Tissue Disease	BEFREE	1404156		★☆☆☆☆ Found in Text Mining only
Deep Vein Thrombosis	Thrombosis	BEFREE	23321260		★☆☆☆☆ Found in Text Mining only
Deficiency of testosterone biosynthesis	Deficiency Of Testosterone Biosynthesis	BEFREE	29623697		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	11920402		★☆☆☆☆ Found in Text Mining only
Delirium	Delirium	BEFREE	30518247		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	29779574, 30872094, 31470635, 31488749		★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic	Atopic dermatitis	Pubtator	21211653, 27769847	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic	Atopic dermatitis	Pubtator	35462437	Inhibit	★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	11454986, 20691404, 21307953, 21628128, 2299195, 24116970, 24794518, 29349851, 30032785, 31663161		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	29907153		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	29907153		★☆☆☆☆ Found in Text Mining only
Diffuse Scleroderma	Scleroderma	BEFREE	1404156, 2013671		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	Pubtator	29879492	Associate	★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	BEFREE	24227863		★☆☆☆☆ Found in Text Mining only
ENCEPHALITIS/ENCEPHALOPATHY, MILD, WITH REVERSIBLE MYELIN VACUOLIZATION	Encephalitis/Encephalopathy With Reversible Myelin Vacuolization	BEFREE	27936982, 30058403, 30404801		★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	Pubtator	35178752	Associate	★☆☆☆☆ Found in Text Mining only
Gastroenteritis	Gastroenteritis	BEFREE	30022263		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	18783366		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	25832561		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	25832561		★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	GWASDB_DG	21900946		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	36181011	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	16820007		★☆☆☆☆ Found in Text Mining only
Hyperkeratosis	Hyperkeratosis	BEFREE	17182622		★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	22801563		★☆☆☆☆ Found in Text Mining only
Hypersensitivity Immediate	Hypersensitivity	Pubtator	20691404	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	12215464		★☆☆☆☆ Found in Text Mining only
Hypoalphalipoproteinemias	Hypoalphalipoproteinemia	Pubtator	29879492	Associate	★☆☆☆☆ Found in Text Mining only
Hypotrichosis	Hypotrichosis	LHGDN	12754508		★☆☆☆☆ Found in Text Mining only
Hypotrichosis simplex	Hypotrichosis simplex	BEFREE	12754508, 16307662, 20448140, 20691404, 31663161		★☆☆☆☆ Found in Text Mining only
Hypotrichosis simplex	Hypotrichosis simplex	Pubtator	20691404	Associate	★☆☆☆☆ Found in Text Mining only
Hypotrichosis Simplex of Scalp	Hypotrichosis simplex	ORPHANET_DG	12754508		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypotrichosis Simplex of Scalp	Hypotrichosis simplex	GENOMICS_ENGLAND_DG	22875505		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypotrichosis Simplex of Scalp	Hypotrichosis simplex	Pubtator	31663161	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypotrichosis Simplex of Scalp	Hypotrichosis simplex	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypotrichosis Simplex of Scalp	Hypotrichosis simplex	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypotrichosis simplex of the scalp	Hypotrichosis Simplex Of The Scalp	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ichthyosis Lamellar	Lamellar ichthyosis	Pubtator	27769847	Associate	★☆☆☆☆ Found in Text Mining only
Ichthyosis linearis circumflexa	Netherton syndrome	BEFREE	21545505		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	BEFREE	9626253		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	32709981	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	28127865		★☆☆☆☆ Found in Text Mining only
LATERAL MENINGOCELE SYNDROME	Lateral Meningocele Syndrome	BEFREE	27044099		★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh Syndrome	BEFREE	22535952, 26450614		★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	Pubtator	34879060	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	23436197		★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	BEFREE	25971455		★☆☆☆☆ Found in Text Mining only
LIMB-MAMMARY SYNDROME	Limb-Mammary Syndrome	BEFREE	27044099		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	15163706, 21827734		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	15163706		★☆☆☆☆ Found in Text Mining only
Lung Diseases, Interstitial	Lung Diseases	BEFREE	28324200		★☆☆☆☆ Found in Text Mining only
Lupus anticoagulant disorder	Lupus anticoagulant	BEFREE	12027572		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	2570039, 30518288, 6600509		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	28554822		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30885944		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	21493715		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	28554822		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	29779574, 30872094, 31470635, 31488749		★☆☆☆☆ Found in Text Mining only
Mixed anxiety and depressive disorder	Mixed Anxiety And Depressive Disorder	BEFREE	28775783, 29709767		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	12815745		★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	36181011	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	GWASDB_DG	17660530		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	22869879		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	9626253		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	20964627, 30870427		★☆☆☆☆ Found in Text Mining only
NEUROTICISM	Neuroticism	BEFREE	28379109, 30518247		★☆☆☆☆ Found in Text Mining only
Nocturia	Nocturia	BEFREE	31837098		★☆☆☆☆ Found in Text Mining only
Nonketotic Hyperglycinemia	Nonketotic Hyperglycinemia	BEFREE	2013671		★☆☆☆☆ Found in Text Mining only
Onycholysis	Onycholysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oral Ulcer	Oral Ulcer	GWASCAT_DG	30837455		★☆☆☆☆ Found in Text Mining only
PEELING SKIN SYNDROME	Peeling Skin Syndrome	GENOMICS_ENGLAND_DG	20691404, 23957618		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peeling Skin Syndrome	Peeling skin syndrome	Pubtator	20691404, 21307953, 30032785, 31663161, 35178752	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEELING SKIN SYNDROME	Peeling Skin Syndrome	BEFREE	21307953, 21545505, 22146835, 28513994, 31539650		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEELING SKIN SYNDROME	Peeling Skin Syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEELING SKIN SYNDROME	Peeling Skin Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peeling skin syndrome acral type	Peeling skin syndrome	Pubtator	22622422	Associate	★☆☆☆☆ Found in Text Mining only
Peeling skin syndrome type B	Peeling Skin Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peeling skin syndrome, acral type	Peeling skin syndrome	BEFREE	22622422, 29323540		★☆☆☆☆ Found in Text Mining only
PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS	Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	BEFREE	31392520		★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	29779574, 30897529, 31127819		★☆☆☆☆ Found in Text Mining only
Pruritus	Pruritus	Pubtator	20691404	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	10332047, 10599883, 10888604, 11069619, 11454986, 11556968, 12366786, 12472658, 12653732, 12956875, 15333584, 15529278, 15953084, 16096103, 16134125, 16297191, 16965413, 18369457, 21628128, 22033905, 23769905, 25078048, 27943452, 29589160		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	Pubtator	11454986	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis vulgaris	Psoriasis vulgaris	BEFREE	10599883, 11454986, 12648227, 15654960, 15953084, 16965413		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	11920402, 2013671, 23769905		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	GWASDB_DG	19503088		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	24548877		★☆☆☆☆ Found in Text Mining only
Severe Acute Respiratory Syndrome	Severe Acute Respiratory Syndrome	BEFREE	12791172, 14983044, 15163706, 15170626, 15195247, 15262502, 15308697, 15356154, 15680149, 15749124, 15857975, 15897467, 16022898, 16035944, 16289934, 16337697, 16378996, 17020602, 17063504, 17507478, 18753223, 19198616, 19958537, 20168090, 21592986, 26085157, 29800727		★☆☆☆☆ Found in Text Mining only
Skin Abnormalities	Skin abnormalities	Pubtator	20691404	Associate	★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia, Hereditary	Spastic paraplegia	BEFREE	25609768		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	31368028		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	36181011	Associate	★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	1404156, 2013671, 22146835, 28513994, 31539650		★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	7478621		★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid Diseases	BEFREE	6600509		★☆☆☆☆ Found in Text Mining only
Trichorrhexis nodosa syndrome	Trichorrhexis nodosa syndrome	Pubtator	35178752	Associate	★☆☆☆☆ Found in Text Mining only
Uveitis	Uveitis	BEFREE	30520957		★☆☆☆☆ Found in Text Mining only