DSG1 (desmoglein 1)

Gene

• Entrez ID: 1828
• Gene name: Desmoglein 1
• Gene symbol: DSG1
• Synonyms (NCBI Gene): CDHF4, DG1, DSG, EPKHE, EPKHIA, PPKS1, SPPK1
• Chromosome: 18
• Chromosome location: 18q12.1
• Summary: This gene encodes a member of the desmoglein protein subfamily. Desmogleins, along with desmocollins, are cadherin-like transmembrane glycoproteins that are major components of the desmosome. Desmosomes are cell-cell junctions that help resist shearing fo

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs397515639	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained
rs397515640	C>A,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs397515641	A>T	Pathogenic	Coding sequence variant, stop gained
rs398122949	->C	Pathogenic	Frameshift variant, coding sequence variant
rs398122950	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs398122951	->T	Pathogenic	Frameshift variant, coding sequence variant
rs398122952	G>A	Pathogenic	Splice acceptor variant
rs568609861	C>A,T	Pathogenic	Stop gained, synonymous variant, coding sequence variant
rs761241711	T>C,G	Likely-pathogenic	Synonymous variant, stop gained, coding sequence variant
rs1057518788	G>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1182196436	C>A,T	Likely-pathogenic	Synonymous variant, stop gained, coding sequence variant
rs1568039793	G>A	Pathogenic	Splice acceptor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019462	hsa-miR-148b-3p	Microarray	17612493
MIRT945966	hsa-miR-1225-5p	CLIP-seq
MIRT945967	hsa-miR-1234	CLIP-seq
MIRT945968	hsa-miR-1245	CLIP-seq
MIRT945969	hsa-miR-1251	CLIP-seq
MIRT945970	hsa-miR-129-5p	CLIP-seq
MIRT945971	hsa-miR-1303	CLIP-seq
MIRT945972	hsa-miR-130a	CLIP-seq
MIRT945973	hsa-miR-130b	CLIP-seq
MIRT945974	hsa-miR-2355-3p	CLIP-seq
MIRT945975	hsa-miR-301a	CLIP-seq
MIRT945976	hsa-miR-301b	CLIP-seq
MIRT945977	hsa-miR-3666	CLIP-seq
MIRT945978	hsa-miR-380	CLIP-seq
MIRT945979	hsa-miR-4295	CLIP-seq
MIRT945980	hsa-miR-4495	CLIP-seq
MIRT945981	hsa-miR-454	CLIP-seq
MIRT945982	hsa-miR-4646-3p	CLIP-seq
MIRT945983	hsa-miR-4671-3p	CLIP-seq
MIRT945984	hsa-miR-4684-5p	CLIP-seq
MIRT945985	hsa-miR-548ag	CLIP-seq
MIRT945986	hsa-miR-548ai	CLIP-seq
MIRT945987	hsa-miR-549	CLIP-seq
MIRT1980024	hsa-miR-4269	CLIP-seq
MIRT1980025	hsa-miR-4514	CLIP-seq
MIRT1980026	hsa-miR-4692	CLIP-seq
MIRT1980027	hsa-miR-4742-5p	CLIP-seq
MIRT1980028	hsa-miR-510	CLIP-seq
MIRT1980024	hsa-miR-4269	CLIP-seq
MIRT1980025	hsa-miR-4514	CLIP-seq
MIRT1980026	hsa-miR-4692	CLIP-seq
MIRT1980027	hsa-miR-4742-5p	CLIP-seq
MIRT1980028	hsa-miR-510	CLIP-seq
MIRT2448542	hsa-miR-2467-3p	CLIP-seq
MIRT2448543	hsa-miR-4257	CLIP-seq
MIRT2448544	hsa-miR-4464	CLIP-seq
MIRT2448545	hsa-miR-4698	CLIP-seq
MIRT2448546	hsa-miR-4748	CLIP-seq
MIRT2448547	hsa-miR-885-3p	CLIP-seq
MIRT2448548	hsa-miR-922	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001533	Component	Cornified envelope	IEA
GO:0001533	Component	Cornified envelope	TAS
GO:0005509	Function	Calcium ion binding	IBA
GO:0005509	Function	Calcium ion binding	IEA
GO:0005509	Function	Calcium ion binding	NAS	1770008
GO:0005515	Function	Protein binding	IPI	11790773, 19136012, 24965446
GO:0005634	Component	Nucleus	IDA	34368962
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IDA	34368962
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005911	Component	Cell-cell junction	IDA	7983064
GO:0007043	Process	Cell-cell junction assembly	NAS	12485422
GO:0007155	Process	Cell adhesion	IEA
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IEA
GO:0009898	Component	Cytoplasmic side of plasma membrane	IDA	7983064
GO:0015643	Function	Toxic substance binding	NAS	12582396
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016328	Component	Lateral plasma membrane	IEA
GO:0016339	Process	Calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules	NAS	1770008
GO:0030057	Component	Desmosome	IBA
GO:0030057	Component	Desmosome	IDA	34368962
GO:0030057	Component	Desmosome	IEA
GO:0030057	Component	Desmosome	NAS	1711210
GO:0032570	Process	Response to progesterone	IEA
GO:0045295	Function	Gamma-catenin binding	IBA
GO:0045295	Function	Gamma-catenin binding	IPI	7983064
GO:0046872	Function	Metal ion binding	IEA
GO:0050821	Process	Protein stabilization	IDA	7983064
GO:0060135	Process	Maternal process involved in female pregnancy	IEA
GO:0070161	Component	Anchoring junction	IEA
GO:0098609	Process	Cell-cell adhesion	IBA
GO:0098609	Process	Cell-cell adhesion	NAS	1711210
GO:0101003	Component	Ficolin-1-rich granule membrane	TAS

Other IDs

• MIM: 125670
• HGNC: 3048
• e!Ensembl: ENSG00000134760

Protein

• UniProt ID: Q02413
• Protein name: Desmoglein-1 (Cadherin family member 4) (Desmosomal glycoprotein 1) (DG1) (DGI) (Pemphigus foliaceus antigen)
• Protein function: Component of intercellular desmosome junctions (PubMed:34368962). Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion (PubMed:19717567). {ECO:0000269|PubMed:19717567, ECO:0000269|PubMed:34368962
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00028	Cadherin	54 → 148	Cadherin domain	Domain
  PF00028	Cadherin	162 → 260	Cadherin domain	Domain
  PF00028	Cadherin	274 → 377	Cadherin domain	Domain
  PF01049	Cadherin_C	641 → 765	Cadherin cytoplasmic region	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in all suprabasal layers of the epidermis, with the highest expression seen in the granular layer (at protein level). {ECO:0000269|PubMed:19717567}.
• Sequence:

  MDWSFFRVVAMLFIFLVVVEVNSEFRIQVRDYNTKNGTIKWHSIRRQKREWIKFAAACRE
  GEDNSKRNPIAKIHSDCAANQQVTYRISGVGIDQPPYGIFVINQKTGEINITSIVDREVT
  PFFIIYCRALNSMGQDLERPLELRVRVLDINDNPPVFSMATFAGQIEENSNANTLVMILN
  ATDADEPNNLNSKIAFKIIRQEPSDSPMFIINRNTGEIRTMNNFLDREQYGQYALAVRGS
  DRDGGADGMSAECECNIKILDVNDNIPYMEQSSYTIEIQENTLNSNLLEIRVIDLDEEFS
  ANWMAVIFFISGNEGNWFEIEMNERTNVGILKVVKPLDYEAMQSLQLSIGVRNKAEFHHS
  IMSQYKLKASAISVTVLNVIEGPVFRPGSKTYVVTGNMGSNDKVGDFVATDLDTGRPSTT
  VRYVMGNNPADLLAVDSRTGKLTLKNKVTKEQYNMLGGKYQGTILSIDDNLQRTCTGTIN
  INIQSFGNDDRTNTEPNTKITTNTGRQESTSSTNYDTSTTSTDSSQVYSSEPGNGAKDLL
  SDNVHFGPAGIGLLIMGFLVLGLVPFLMICCDCGGAPRSAAGFEPVPECSDGAIHSWAVE
  GPQPEPRDITTVIPQIPPDNANIIECIDNSGVYTNEYGGREMQDLGGGERMTGFELTEGV
  KTSGMPEICQEYSGTLRRNSMRECREGGLNMNFMESYFCQKAYAYADEDEGRPSNDCLLI
  YDIEGVGSPAGSVGCCSFIGEDLDDSFLDTLGPKFKKLADISLGKESYPDLDPSWPPQST
  EPVCLPQETEPVVSGHPPISPHFGTTTVISESTYPSGPGVLHPKPILDPLGYGNVTVTES
  YTTSDTLKPSVHVHDNRPASNVVVTERVVGPISGADLHGMLEMPDLRDGSNVIVTERVIA
  PSSSLPTSLTIHHPRESSNVVVTERVIQPTSGMIGSLSMHPELANAHNVIVTERVVSGAG
  VTGISGTTGISGGIGSSGLVGTSMGAGSGALSGAGISGGGIGLSSLGGTASIGHMRSSSD
  HHFNQTIGSASPSTARSRITKYSTVQYSK

• Sequence length: 1049

Pathways

KEGG:

Staphylococcus aureus infection

Reactome:

Apoptotic cleavage of cell adhesion proteins
Neutrophil degranulation
Keratinization
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
Abnormality of the skin	Likely pathogenic	rs2144093610	RCV001814519	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bicuspid aortic valve	Likely pathogenic	rs1057518788	RCV000415242	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Diffuse palmoplantar hyperkeratosis	Likely pathogenic	rs761241711	RCV000415453	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
DSG1-related disorder	Likely pathogenic; Pathogenic	rs1203908934, rs2511043894	RCV003397290 RCV003404647	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epidermal disease	Pathogenic	rs397515641	RCV005625263	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary palmoplantar keratoderma	Likely pathogenic	rs1057518788, rs761241711	RCV000415242 RCV000415453	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Palmoplantar keratoderma i, striate, focal, or diffuse	Likely pathogenic; Pathogenic	rs2144110924, rs2144091452, rs568609861, rs145081747, rs1568039793, rs1182196436, rs398122949, rs398122950, rs397515639, rs398122951, rs397515640, rs397515641	RCV001729859 RCV001808852 RCV003326394 RCV005021906 RCV000018313 RCV000585694 RCV000074349 RCV000074350 RCV000074351 RCV000074352 RCV000074353 RCV000074354	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Severe dermatitis-multiple allergies-metabolic wasting syndrome	Likely pathogenic; Pathogenic	rs2144107587, rs145081747, rs1463828394, rs398122952, rs398122400	RCV002225060 RCV005021906 RCV002224974 RCV000074355 RCV000074356	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
DERMATITIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIFFUSE PALMOPLANTAR KERATODERMA WITH PAINFUL FISSURES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EOSINOPHILIC ESOPHAGITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER-IGE	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FOCAL PALMOPLANTAR KERATODERMA WITH JOINT KERATOSES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERSENSITIVITY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KERATOSIS PALMOPLANTARIS STRIATA 1	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Ablepharon	Ablepharon	BEFREE	30301382		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	37304256	Associate	★☆☆☆☆ Found in Text Mining only
Anus Neoplasms	Anus neoplasm	Pubtator	22333708	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	LHGDN	12058255		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	19843946, 21585555, 31258541		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	19843946	Associate	★☆☆☆☆ Found in Text Mining only
Bicuspid aortic valve	Bicuspid aortic valve	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Blister	Blister	Pubtator	12190860, 21075858, 32235430	Associate	★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary dysplasia	Pubtator	37147394	Associate	★☆☆☆☆ Found in Text Mining only
Bullous pemphigoid	Bullous Pemphigoid	BEFREE	28261028		★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	22333708, 8664118, 8982400, 9062412	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	31037311		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	32850288	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	2123114	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	28490445		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	28490445	Associate	★☆☆☆☆ Found in Text Mining only
Dentinogenesis Imperfecta	Dentinogenesis Imperfecta	BEFREE	10371253, 10765957, 15690376, 18797159, 19103209, 20146806, 7573043		★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	23974871, 25041099, 27154412, 31037311		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dermatitis	Dermatitis	CTD_human_DG	23974871		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dermatitis	Dermatitis	Pubtator	23974871, 26073755, 34352264	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dermatitis Atopic	Atopic dermatitis	Pubtator	21211653, 37540585	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	28238749, 28524044		★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	11313759, 12190860, 12618858, 12823304, 12930313, 17397555, 21056996, 22996451, 24220297, 26911801, 28064226, 28661086, 9257868, 9325073		★☆☆☆☆ Found in Text Mining only
Diffuse palmoplantar hyperkeratosis	Diffuse palmoplantar hyperkeratosis	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Diffuse palmoplantar keratoderma with painful fissures	Diffuse Palmoplantar Keratoderma With Painful Fissures	ORPHANET_DG	15897387		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diffuse palmoplantar keratoderma with painful fissures	Diffuse Palmoplantar Keratoderma With Painful Fissures	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Down Syndrome	Down Syndrome	BEFREE	15473697		★☆☆☆☆ Found in Text Mining only
Dyskinesia Familial with Facial Myokymia	Dyskinesia, familial, with facial myokymia	Pubtator	27534273	Associate	★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	28238749, 28524044		★☆☆☆☆ Found in Text Mining only
Eosinophilic esophagitis	Eosinophilia	BEFREE	24220297, 27262491, 28297154, 28712126, 31589979		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Eosinophilic Esophagitis	Eosinophilia	Pubtator	24220297, 28712126	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Eosinophilic Esophagitis	Eosinophilia	Pubtator	31589979, 39343172	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epidermal Nevus	Epidermal nevus	Pubtator	31681304	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	12530024		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	32546690, 9062412	Associate	★☆☆☆☆ Found in Text Mining only
Esophagitis	Esotropia	Pubtator	40284218	Associate	★☆☆☆☆ Found in Text Mining only
Exfoliative dermatitis	Exfoliative Dermatitis	BEFREE	31037311		★☆☆☆☆ Found in Text Mining only
Exfoliative dermatitis	Exfoliative Dermatitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Focal palmoplantar keratoderma with joint keratoses	Focal Palmoplantar Keratoderma With Joint Keratoses	ORPHANET_DG	16484817		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Focal palmoplantar keratoderma with joint keratoses	Focal Palmoplantar Keratoderma With Joint Keratoses	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	30655320, 30816522		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	30655320, 30816522	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Diffuse Gastric Cancer	Gastric Cancer	BEFREE	1601426		★☆☆☆☆ Found in Text Mining only
Hyperkeratosis	Hyperkeratosis	BEFREE	17182622		★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	32850288	Associate	★☆☆☆☆ Found in Text Mining only
Hypotrichosis	Hypotrichosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ichthyosis linearis circumflexa	Netherton syndrome	BEFREE	16225619, 19438860		★☆☆☆☆ Found in Text Mining only
Ichthyosis Vulgaris	Ichthyosis vulgaris	Pubtator	20178468	Associate	★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	BEFREE	15897387, 16484817, 20082890, 25041099, 27534273, 31192455, 31443639		★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Keratosis palmoplantaris striata 1	Keratosis palmoplantaris striata	Pubtator	11982762, 17194569, 19157795, 23524970	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Keratosis palmoplantaris striata 1	Keratosis Palmoplantaris Striata	GENOMICS_ENGLAND_DG	27534273		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Keratosis palmoplantaris striata 1	Keratosis Palmoplantaris Striata	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Keratosis palmoplantaris striata 1	Keratosis Palmoplantaris Striata	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	9062412	Inhibit	★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	30655320, 30816522		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	20713186, 30655320		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	11781826		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	31563153	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	CTD_human_DG	23974871		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mouth Diseases	Mouth disease	Pubtator	25178305	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	26469831		★☆☆☆☆ Found in Text Mining only
Palmoplantar Keratosis	Palmoplantar Keratosis	LHGDN	17194569		★☆☆☆☆ Found in Text Mining only
Palmoplantar Keratosis	Palmoplantar Keratosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	19091121	Inhibit	★☆☆☆☆ Found in Text Mining only
Peeling Skin Syndrome	Peeling skin syndrome	Pubtator	30032785	Associate	★☆☆☆☆ Found in Text Mining only
Pemphigus	Pemphigus	Pubtator	10642599, 12190860, 17392832, 18373702, 19571823, 19843946, 19893475, 20178468, 22449394, 22876746, 24813052, 25178305, 25384535, 26831096, 29740444, 30116153, 30216441, 31057535, 31178865, 31247885, 31365654, 31440235, 32926429, 35058080, 35449056, 35711465, 36159821, 36212929, 36997112, 37529044, 37940861, 7543545, 8491991, 8982400, 9339649, 9424092	Associate	★☆☆☆☆ Found in Text Mining only
Pemphigus	Pemphigus	BEFREE	11154866, 14646976, 15841178, 17640963, 18219275, 18331528, 19843946, 20163452, 28261028, 29723379, 29740444, 31178865, 31781120, 7543545		★☆☆☆☆ Found in Text Mining only
Pemphigus	Pemphigus	LHGDN	12058255, 16026580		★☆☆☆☆ Found in Text Mining only
Pemphigus Foliaceus	Pemphigus Foliaceus	BEFREE	10551416, 10936030, 11120754, 11154866, 11294567, 12058255, 12190860, 12209366, 12604316, 12963278, 15869862, 16242304, 16611260, 17056584, 17640963, 18007588, 18331528, 18838249, 19421221, 19453789, 19843946, 20163452, 20178466, 20433886, 21352303, 22189787, 22810308, 24813052, 26597100, 28024684, 28211055, 28855908, 28941730, 29489039, 30011065, 30116153, 30474029, 30577075, 30653253, 30884100, 30910537, 31178865, 31335412, 31781120, 7543545, 7547386, 8034325, 9257868, 9325073		★☆☆☆☆ Found in Text Mining only
Pemphigus Vulgaris	Pemphigus Vulgaris	BEFREE	10551416, 10936030, 10951142, 11120754, 11154866, 12604316, 17056584, 17392832, 17442983, 17640963, 18331528, 18838249, 20163452, 20178466, 21352303, 21585555, 22810308, 22996451, 26597100, 26911801, 28012821, 28064226, 28211055, 28297154, 28300855, 28543318, 28591691, 28661086, 29132070, 30157430, 30692201, 30910537, 31024527, 31178865, 31192484, 31258541, 31370093, 7543545, 7547386, 8034325, 9257868		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	21382035		★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia vera	Pubtator	17344213, 20178468	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasiform eczema	Psoriasiform eczema	HPO_DG			★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	Pubtator	31996098	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	15920547	Associate	★☆☆☆☆ Found in Text Mining only
Severe dermatitis, multiple allergies, metabolic wasting syndrome	Dermatitis	BEFREE	23974871, 25041099, 26073755, 27154412, 29349851, 29604126, 30943110, 31037311, 31106887, 31465738		★☆☆☆☆ Found in Text Mining only
Severe dermatitis, multiple allergies, metabolic wasting syndrome	Dermatitis	GENOMICS_ENGLAND_DG	23974871, 27534273		★☆☆☆☆ Found in Text Mining only
Severe dermatitis, multiple allergies, metabolic wasting syndrome	Dermatitis	ORPHANET_DG	23974871		★☆☆☆☆ Found in Text Mining only
Severe dermatitis, multiple allergies, metabolic wasting syndrome	Dermatitis	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Severe dermatitis, multiple allergies, metabolic wasting syndrome	Dermatitis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Severe dermatitis-multiple allergies-metabolic wasting syndrome	Dermatitis-Multiple Allergies-Metabolic Wasting Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Skin Diseases	Skin disease	Pubtator	22936986, 34352264	Associate	★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	17442983, 24813052, 31465738		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	18752129		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	21163944		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	30655320	Inhibit	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	8664118	Associate	★☆☆☆☆ Found in Text Mining only
Striate palmoplantar keratoderma	Striate Palmoplantar Keratoderma	ORPHANET_DG	10332028, 19157795		★☆☆☆☆ Found in Text Mining only
Striate palmoplantar keratoderma	Striate Palmoplantar Keratoderma	Orphanet			★☆☆☆☆ Found in Text Mining only
Striate palmoplantar keratoderma	Striate Palmoplantar Keratoderma	BEFREE	11260246, 11313759, 11982762, 15149499, 19018793, 19157795, 20082890, 23524970, 25041099, 31192455		★☆☆☆☆ Found in Text Mining only
Vasculitis Leukocytoclastic Cutaneous	Vasculitis	Pubtator	24220297	Associate	★☆☆☆☆ Found in Text Mining only