CARD14 (caspase recruitment domain family member 14)

Gene

• Entrez ID: 79092
• Gene name: Caspase recruitment domain family member 14
• Gene symbol: CARD14
• Synonyms (NCBI Gene): BIMP2, CARMA2, PRP, PSORS2, PSS1
• Chromosome: 17
• Chromosome location: 17q25.3
• Summary: This gene encodes a caspase recruitment domain-containing protein that is a member of the membrane-associated guanylate kinase (MAGUK) family of proteins. Members of this protein family are scaffold proteins that are involved in a diverse array of cellula

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs200790561	G>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, missense variant
rs281875212	G>A,C	Not-provided, pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, missense variant
rs281875213	A>G	Not-provided, pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, missense variant
rs281875214	A>C	Not-provided, pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, missense variant
rs281875215	G>A	Not-provided, pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, missense variant
rs369755459	T>G	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant, 5 prime UTR variant
rs387907240	T>C	Pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, missense variant
rs587777763	G>A,C	Pathogenic	Intron variant, genic upstream transcript variant
rs886041402	G>A	Pathogenic	Genic upstream transcript variant, splice donor variant
rs1567872320	G>A	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs1598639584	T>C,G	Uncertain-significance, pathogenic	Missense variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs1598639617	T>C	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs1598639659	G>C	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs1598639974	A>C	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022735	hsa-miR-124-3p	Microarray	18668037
MIRT029698	hsa-miR-26b-5p	Microarray	19088304
MIRT862780	hsa-miR-146b-3p	CLIP-seq
MIRT862781	hsa-miR-1912	CLIP-seq
MIRT862782	hsa-miR-2278	CLIP-seq
MIRT862783	hsa-miR-339-5p	CLIP-seq
MIRT1955899	hsa-miR-4269	CLIP-seq
MIRT2193486	hsa-miR-3158-5p	CLIP-seq
MIRT2193487	hsa-miR-3180-5p	CLIP-seq
MIRT2193488	hsa-miR-3919	CLIP-seq
MIRT2193489	hsa-miR-520a-5p	CLIP-seq
MIRT2193490	hsa-miR-525-5p	CLIP-seq
MIRT2385536	hsa-miR-1208	CLIP-seq
MIRT2385537	hsa-miR-4420	CLIP-seq
MIRT2385538	hsa-miR-892a	CLIP-seq
MIRT2385539	hsa-miR-935	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001934	Process	Positive regulation of protein phosphorylation	IDA	11278692
GO:0005515	Function	Protein binding	IPI	27071417, 32296183
GO:0005737	Component	Cytoplasm	IDA	11278692, 21302310
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	NAS	11278692
GO:0006915	Process	Apoptotic process	IEA
GO:0007250	Process	Activation of NF-kappaB-inducing kinase activity	NAS	11278692
GO:0010604	Process	Positive regulation of macromolecule metabolic process	IEA
GO:0016235	Component	Aggresome	IDA
GO:0033209	Process	Tumor necrosis factor-mediated signaling pathway	IMP	21302310
GO:0042981	Process	Regulation of apoptotic process	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IMP	21302310
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IBA
GO:0050700	Function	CARD domain binding	IPI	11278692
GO:0050776	Process	Regulation of immune response	IBA
GO:0051092	Process	Positive regulation of NF-kappaB transcription factor activity	IMP	21302310, 27113748

Other IDs

• MIM: 607211
• HGNC: 16446
• e!Ensembl: ENSG00000141527

Protein

• UniProt ID: Q9BXL6
• Protein name: Caspase recruitment domain-containing protein 14 (CARD-containing MAGUK protein 2) (Carma 2)
• Protein function: Acts as a scaffolding protein that can activate the inflammatory transcription factor NF-kappa-B and p38/JNK MAP kinase signaling pathways. Forms a signaling complex with BCL10 and MALT1, and activates MALT1 proteolytic activity and inflammatory
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00619	CARD	20 → 106	Caspase recruitment domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Isoform 1 is detected in placenta and epidermal keratinocytes (PubMed:22521418). Isoform 2 is detected in leukocytes and fetal brain (PubMed:22521418). {ECO:0000269|PubMed:22521418}.
• Sequence:

  MGELCRRDSALTALDEETLWEMMESHRHRIVRCICPSRLTPYLRQAKVLCQLDEEEVLHS
  PRLTNSAMRAGHLLDLLKTRGKNGAIAFLESLKFHNPDVYTLVTGLQPDVDFSNFSGLME
  TSKLTECLAGAIGSLQEELNQEKGQKEVLLRRCQQLQEHLGLAETRAEGLHQLEADHSRM
  KREVSAHFHEVLRLKDEMLSLSLHYSNALQEKELAASRCRSLQEELYLLKQELQRANMVS
  SCELELQEQSLRTASDQESGDEELNRLKEENEKLRSLTFSLAEKDILEQSLDEARGSRQE
  LVERIHSLRERAVAAERQREQYWEEKEQTLLQFQKSKMACQLYREKVNALQAQVCELQKE
  RDQAYSARDSAQREISQSLVEKDSLRRQVFELTDQVCELRTQLRQLQAEPPGVLKQEART
  REPCPREKQRLVRMHAICPRDDSDCSLVSSTESQLLSDLSATSSRELVDSFRSSSPAPPS
  QQSLYKRVAEDFGEEPWSFSSCLEIPEGDPGALPGAKAGDPHLDYELLDTADLPQLESSL
  QPVSPGRLDVSESGVLMRRRPARRILSQVTMLAFQGDALLEQISVIGGNLTGIFIHRVTP
  GSAADQMALRPGTQIVMVDYEASEPLFKAVLEDTTLEEAVGLLRRVDGFCCLSVKVNTDG
  YKRLLQDLEAKVATSGDSFYIRVNLAMEGRAKGELQVHCNEVLHVTDTMFQGCGCWHAHR
  VNSYTMKDTAAHGTIPNYSRAQQQLIALIQDMTQQCTVTRKPSSGGPQKLVRIVSMDKAK
  ASPLRLSFDRGQLDPSRMEGSSTCFWAESCLTLVPYTLVRPHRPARPRPVLLVPRAVGKI
  LSEKLCLLQGFKKCLAEYLSQEEYEAWSQRGDIIQEGEVSGGRCWVTRHAVESLMEKNTH
  ALLDVQLDSVCTLHRMDIFPIVIHVSVNEKMAKKLKKGLQRLGTSEEQLLEAARQEEGDL
  DRAPCLYSSLAPDGWSDLDGLLSCVRQAIADEQKKVVWTEQSPR

• Sequence length: 1004

Pathways

KEGG:

NF-kappa B signaling pathway

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
Papulosquamous eruptions	Pathogenic; Likely pathogenic	rs281875215, rs387907240, rs1567872320, rs1598639584, rs1598639617, rs1598639659, rs1598639974	RCV000845181 RCV000845186 RCV000845185 RCV000845188 RCV000845184 RCV000845187 RCV000845182 RCV000845189	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pityriasis rubra pilaris	Pathogenic; Likely pathogenic	rs886041402, rs281875215, rs387907240, rs1390003312, rs1598639584, rs1598639617	RCV000029231 RCV001852567 RCV000029229 RCV000029230 RCV000817174 RCV001869284	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Psoriasis 2	Pathogenic; Likely pathogenic	rs886041402, rs281875215, rs587777763, rs281875213, rs281875212, rs387907240, rs1390003312, rs1598639584, rs1598639617	RCV001855059 RCV000024310 RCV000024311 RCV000024312 RCV000024314 RCV001852578 RCV002513232 RCV000817174 RCV001869284	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PSORIASIS 2, PUSTULAR	Pathogenic	rs281875214	RCV000024313	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoinflammatory syndrome	Conflicting classifications of pathogenicity; Likely benign; Benign; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CARD14-related disorder	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ERYTHEMATOSQUAMOUS DERMATOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pityriasis rubra pilaris	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HIRSCHSPRUNG DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOYAMOYA DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUCOPOLYSACCHARIDOSIS III	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUCOPOLYSACCHARIDOSIS TYPE IIIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic adenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS VULGARIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEBORRHEIC DERMATITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	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	29443105		★☆☆☆☆ Found in Text Mining only
Alopecia, Male Pattern	Alopecia, Male Pattern	BEFREE	29443105		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	31194501		★☆☆☆☆ Found in Text Mining only
Androgenetic Alopecia	Androgenetic Alopecia	BEFREE	29443105		★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	16622521, 27071417, 31286971	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	38013380	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	16733365, 22521418, 31323190		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	34271060	Associate	★☆☆☆☆ Found in Text Mining only
Autoinflammatory disorder	Autoinflammatory Disease	GENOMICS_ENGLAND_DG	29980436		★☆☆☆☆ Found in Text Mining only
Bernard-Soulier Syndrome	Bernard Soulier Syndrome	BEFREE	14717981, 4031633, 759524		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	21494810		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	39362963	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	29070896		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	BEFREE	18612811, 24178909, 26094604, 29138803, 31180539		★☆☆☆☆ Found in Text Mining only
Creutzfeldt-Jakob Disease, Familial	Creutzfeldt-Jakob disease	BEFREE	1357594		★☆☆☆☆ Found in Text Mining only
Creutzfeldt-Jakob Disease, Sporadic	Creutzfeldt-Jakob disease	BEFREE	10762506		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	28339078, 29379374, 30443214		★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	29150564, 29980436, 31323190		★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic	Atopic dermatitis	Pubtator	16374479, 34271060	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	16374479, 30248356		★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	28887889, 29422292, 29689250, 30319628, 30386326, 31486084		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	16374479, 30248356		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	HPO_DG			★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	7767489, 8137132		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	29070896		★☆☆☆☆ Found in Text Mining only
Exanthema	Exanthema	Pubtator	38013380	Associate	★☆☆☆☆ Found in Text Mining only
Exfoliative dermatitis	Exfoliative Dermatitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fatal Familial Insomnia	Fatal Insomnia	BEFREE	20806222, 9270595		★☆☆☆☆ Found in Text Mining only
Generalized pustular psoriasis	Pustular Psoriasis	BEFREE	22521419, 24656634, 26203641, 26358359, 28887889, 29422292, 31353537		★☆☆☆☆ Found in Text Mining only
Gerstmann-Straussler-Scheinker Disease	Gerstmann-Straussler-Scheinker syndrome	BEFREE	10581259, 1684745, 29338055, 31142381, 7858176, 7922109, 9153600		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	30295074		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	26094604		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	26094604		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	39362963	Stimulate	★☆☆☆☆ Found in Text Mining only
Hemophilia A	Hemophilia	BEFREE	31639263		★☆☆☆☆ Found in Text Mining only
Hemophilia, NOS	Hemophilia	BEFREE	31639263		★☆☆☆☆ Found in Text Mining only
Hyperkeratosis	Hyperkeratosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	31619708		★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	30008619		★☆☆☆☆ Found in Text Mining only
Inflammatory dermatosis	Dermatitis	BEFREE	29150564, 29980436, 31323190		★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	BEFREE	29379374		★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
LATERAL MENINGOCELE SYNDROME	Lateral Meningocele Syndrome	BEFREE	27044099		★☆☆☆☆ Found in Text Mining only
LIMB-MAMMARY SYNDROME	Limb-Mammary Syndrome	BEFREE	27044099		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	29437631		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	30254439		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	18612811, 31180539		★☆☆☆☆ Found in Text Mining only
Moyamoya Disease	Moyamoya Disease	GWASCAT_DG	29273593		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Moyamoya disease 1	Moyamoya disease	GWASCAT_DG	29273593		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	21494810, 24178909, 26094604, 29138803, 30254439		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
New Variant Creutzfeldt-Jakob Disease	Creutzfeldt-Jakob Disease	BEFREE	10931212, 16480953, 21790605		★☆☆☆☆ Found in Text Mining only
Osteoarthritis, Knee	Knee osteoarthritis	BEFREE	29388085, 29511819, 31538913		★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	29180271		★☆☆☆☆ Found in Text Mining only
Parakeratosis	Parakeratosis	BEFREE	31849081		★☆☆☆☆ Found in Text Mining only
Parakeratosis	Parakeratosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polyarthritis	Polyarthritis	BEFREE	28776328		★☆☆☆☆ Found in Text Mining only
Psoriasiform eczema	Psoriasiform eczema	HPO_DG			★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	12483297, 14608357, 15654961, 16374479, 16622521, 22521418, 22521419, 22703878, 23013406, 23291100, 23897274, 23905699, 24212883, 25369198, 26130407, 26203641, 26249641, 26358359, 26854129, 26982778, 26984337, 27071417, 27113748, 27706581, 27939769, 28776328, 29150564, 29194363, 29477734, 29689250, 29980436, 30143077, 30248356, 30386326, 30697821, 31156649, 31323190		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	Pubtator	16622521, 22521418, 27071417, 29194363, 29477734, 30092825, 31286971, 33804147, 35853659, 38013380	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	CTD_human_DG	23143594, 24212883		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	GWASCAT_DG	23143594		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	GWASDB_DG	23143594		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	GENOMICS_ENGLAND_DG	29980436		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS 2	Psoriasis	UNIPROT_DG	22521418, 22521419, 26358359, 27071417, 27113748		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PSORIASIS 2	Psoriasis	BEFREE	23905699		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PSORIASIS 2	Psoriasis	GENOMICS_ENGLAND_DG	29689250, 29980436		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PSORIASIS 2	Psoriasis	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Psoriasis vulgaris	Psoriasis vulgaris	BEFREE	26130407, 26203641, 26249641, 26358359, 26982778, 29422292		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pustular psoriasis	Pustular Psoriasis	BEFREE	26130407, 26203641, 28887889, 29422292		★☆☆☆☆ Found in Text Mining only
Pustulosis of Palms and Soles	Palmoplantar Pustules	CTD_human_DG	23143594, 24212883		★☆☆☆☆ Found in Text Mining only
Pustulosis of Palms and Soles	Palmoplantar Pustules	BEFREE	29422292		★☆☆☆☆ Found in Text Mining only
Rotator cuff syndrome	Rotator cuff syndrome	BEFREE	27684960		★☆☆☆☆ Found in Text Mining only
Salivary Gland Pleomorphic Adenoma	Pleomorphic adenoma of salivary gland	BEFREE	31323190		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	39362963	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEBASTIAN SYNDROME	SEBASTIAN SYNDROME	BEFREE	4031633		★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	26212909, 27071417, 39362963	Associate	★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	29689250		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	26212909		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	30254439		★☆☆☆☆ Found in Text Mining only
Subungual hyperkeratosis	Subungual hyperkeratosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Synovitis	Synovitis	BEFREE	31847701		★☆☆☆☆ Found in Text Mining only
Tendinopathy	Tendinopathy	BEFREE	29300106, 30487054, 31840415, 31842921		★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	BEFREE	31541597		★☆☆☆☆ Found in Text Mining only
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)	Vitiligo-associated SYSTEMIC LUPUS ERYTHEMATOSUS	BEFREE	31541597		★☆☆☆☆ Found in Text Mining only