NECTIN1 (nectin cell adhesion molecule 1)

Gene

• Entrez ID: 5818
• Gene name: Nectin cell adhesion molecule 1
• Gene symbol: NECTIN1
• Synonyms (NCBI Gene): CD111, CLPED1, ED4, HIgR, HV1S, HVEC, OFC7, PRR, PRR1, PVRL1, PVRR, PVRR1, SK-12, nectin-1
• Chromosome: 11
• Chromosome location: 11q23.3
• Summary: This gene encodes an adhesion protein that plays a role in the organization of adherens junctions and tight junctions in epithelial and endothelial cells. The protein is a calcium(2+)-independent cell-cell adhesion molecule that belongs to the immunoglobu

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs104894281	C>T	Pathogenic	Coding sequence variant, stop gained
rs876657374	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs878853255	->A	Pathogenic	Frameshift variant, coding sequence variant

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001618	Function	Virus receptor activity	IBA
GO:0001618	Function	Virus receptor activity	IDA	22146396, 25231300, 28542478, 34587223
GO:0001618	Function	Virus receptor activity	IEA
GO:0002089	Process	Lens morphogenesis in camera-type eye	IEA
GO:0002934	Process	Desmosome organization	IEA
GO:0005515	Function	Protein binding	IPI	11277703, 21982860, 22902367, 26787460, 32296183, 33961781
GO:0005576	Component	Extracellular region	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	21325282, 34587223
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005912	Component	Adherens junction	IBA
GO:0005912	Component	Adherens junction	IDA	10225955
GO:0005912	Component	Adherens junction	IEA
GO:0005912	Component	Adherens junction	NAS	12885915
GO:0006826	Process	Iron ion transport	IEA
GO:0006955	Process	Immune response	NAS	10932188
GO:0007155	Process	Cell adhesion	IEA
GO:0007155	Process	Cell adhesion	NAS	12764381
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IBA
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IDA	21325282
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IEA
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	ISS
GO:0007157	Process	Heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules	IBA
GO:0007157	Process	Heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules	IDA	21325282
GO:0007157	Process	Heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules	IEA
GO:0007157	Process	Heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules	ISS
GO:0007411	Process	Axon guidance	IEA
GO:0015026	Function	Coreceptor activity	TAS	9616127
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	10932188
GO:0016020	Component	Membrane	TAS	9616127
GO:0030246	Function	Carbohydrate binding	IEA
GO:0030424	Component	Axon	IEA
GO:0030425	Component	Dendrite	IEA
GO:0032584	Component	Growth cone membrane	IEA
GO:0038023	Function	Signaling receptor activity	IEA
GO:0042734	Component	Presynaptic membrane	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	IPI	21982860, 22902367
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0042803	Function	Protein homodimerization activity	ISS
GO:0042995	Component	Cell projection	IEA
GO:0043296	Component	Apical junction complex	IBA
GO:0043296	Component	Apical junction complex	IEA
GO:0044291	Component	Cell-cell contact zone	IEA
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0045202	Component	Synapse	IEA
GO:0046718	Process	Symbiont entry into host cell	IDA	22146396, 25231300, 28542478
GO:0046718	Process	Symbiont entry into host cell	IEA
GO:0046718	Process	Symbiont entry into host cell	NAS	12885915
GO:0046790	Function	Virion binding	IEA
GO:0048593	Process	Camera-type eye morphogenesis	IEA
GO:0048787	Component	Presynaptic active zone membrane	IEA
GO:0050807	Process	Regulation of synapse organization	IEA
GO:0050839	Function	Cell adhesion molecule binding	IPI	12438620
GO:0051963	Process	Regulation of synapse assembly	IEA
GO:0060041	Process	Retina development in camera-type eye	IEA
GO:0070161	Component	Anchoring junction	IEA
GO:0070166	Process	Enamel mineralization	IEA
GO:0090103	Process	Cochlea morphogenesis	IEA
GO:0090103	Process	Cochlea morphogenesis	ISS
GO:0098609	Process	Cell-cell adhesion	IEA
GO:0098609	Process	Cell-cell adhesion	NAS	12885915
GO:0098631	Function	Cell adhesion mediator activity	IBA
GO:0098631	Function	Cell adhesion mediator activity	IDA	21325282
GO:0098631	Function	Cell adhesion mediator activity	IEA
GO:0098686	Component	Hippocampal mossy fiber to CA3 synapse	IEA
GO:1902414	Process	Protein localization to cell junction	IBA
GO:1902414	Process	Protein localization to cell junction	IEA

Other IDs

• MIM: 600644
• HGNC: 9706
• e!Ensembl: ENSG00000110400

Protein

• UniProt ID: Q15223
• Protein name: Nectin-1 (Herpes virus entry mediator C) (Herpesvirus entry mediator C) (HveC) (Herpesvirus Ig-like receptor) (HIgR) (Nectin cell adhesion molecule 1) (Poliovirus receptor-related protein 1) (CD antigen CD111)
• Protein function: Cell adhesion molecule that promotes cell-cell contacts and plays important roles in the development of the nervous system (PubMed:21325282). Acts by forming homophilic or heterophilic trans-dimers (PubMed:21325282). Heterophilic interactions ha
• PDB: 3ALP, 3SKU, 3U82, 3U83, 4FMF, 4MYW
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07686	V-set	34 → 143	Immunoglobulin V-set domain	Domain
  PF08205	C2-set_2	148 → 237	CD80-like C2-set immunoglobulin domain	Domain
  PF13927	Ig_3	246 → 320		Domain

• Sequence:

  MARMGLAGAAGRWWGLALGLTAFFLPGVHSQVVQVNDSMYGFIGTDVVLHCSFANPLPSV
  KITQVTWQKSTNGSKQNVAIYNPSMGVSVLAPYRERVEFLRPSFTDGTIRLSRLELEDEG
  VYICEFATFPTGNRESQLNLTVMAKPTNWIEGTQAVLRAKKGQDDKVLVATCTSANGKPP
  SVVSWETRLKGEAEYQEIRNPNGTVTVISRYRLVPSREAHQQSLACIVNYHMDRFKESLT
  LNVQYEPEVTIEGFDGNWYLQRMDVKLTCKADANPPATEYHWTTLNGSLPKGVEAQNRTL
  FFKGPINYSLAGTYICEATNPIGTRSGQVEVNITEFPYTPSPPEHGRRAGPVPTAIIGGV
  AGSILLVLIVVGGIVVALRRRRHTFKGDYSTKKHVYGNGYSKAGIPQHHPPMAQNLQYPD
  DSDDEKKAGPLGGSSYEEEEEEEEGGGGGERKVGGPHPKYDEDAKRPYFTVDEAEARQDG
  YGDRTLGYQYDPEQLDLAENMVSQNDGSFISKKEWYV

• Sequence length: 517

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
Cleft lip/palate-ectodermal dysplasia syndrome	Pathogenic; Likely pathogenic	rs769476648, rs104894281, rs876657374, rs878853255, rs778591472, rs2135551778	RCV002267572 RCV000009531 RCV000009533 RCV000009534 RCV003984996 RCV001376126	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Orofacial cleft 7	Pathogenic	rs104894281	RCV000009532	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT LIP AND CLEFT OF ALVEOLAR PROCESS OF MAXILLA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT PALATE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT PALATE WITH CLEFT LIP	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT UPPER LIP	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLETE UNILATERAL CLEFT LIP	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ECTODERMAL DYSPLASIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NECTIN1-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSESSIVE-COMPULSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOURETTE SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	30759143		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	20855955		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	25690753		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	23583282		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	29256146		★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	23583282		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	16893397		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	19180502	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	16893397		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	26079624, 28515320		★☆☆☆☆ Found in Text Mining only
Autonomic nervous system disorders	Autonomic Central Nervous System Diseases	BEFREE	30925093		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	30224769		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	15784625, 24386110, 27801578		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	20543867, 24386110	Associate	★☆☆☆☆ Found in Text Mining only
Bronchiolitis	Bronchiolitis	BEFREE	19386802		★☆☆☆☆ Found in Text Mining only
Carcinoma Adenoid Cystic	Adenoid cystic carcinoma	Pubtator	23583282	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	26058814	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	31440821		★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	16879022	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	20855955	Associate	★☆☆☆☆ Found in Text Mining only
Chronic otitis media	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cleft Lip	Cleft lip	Pubtator	22455396, 9758630	Associate	★☆☆☆☆ Found in Text Mining only
Cleft Lip with or without Cleft Palate	Cleft Lip With Or Without Cleft Palate	GENOMICS_ENGLAND_DG	10932188		★☆☆☆☆ Found in Text Mining only
Cleft Lip with or without Cleft Palate	Cleft Lip With Or Without Cleft Palate	BEFREE	22455396, 26953873		★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	19715471, 22455396, 36901988, 9758630	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cleft palate and bilateral cleft lip	Cleft Palate And Bilateral Cleft Lip	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	38502899	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	19129446	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	26074693, 30917374		★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital abnormality of Eustachian tube	Congenital Abnormality Of Eustachian Tube	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	28086762		★☆☆☆☆ Found in Text Mining only
Cutaneous finger syndactyly	Syndactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cutaneous syndactyly of toes	Syndactyly Of The Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental absence of tooth	Anodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	31217373		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	31217373		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	36066992	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Cardiomyopathies	Diabetic cardiomyopathy	BEFREE	23116220		★☆☆☆☆ Found in Text Mining only
Dysautonomia	Dysautonomia	BEFREE	30925093		★☆☆☆☆ Found in Text Mining only
Dysmorphism	Dysmorphism	BEFREE	25966106		★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal Dysplasia	BEFREE	10932188, 11159940, 17534374, 20691405, 24577405		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ectodermal Dysplasia	Ectodermal Dysplasia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ectopia Lentis	Ectopia Lentis	BEFREE	29305299		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	22926846		★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa Simplex Superficialis	Epidermolysis Bullosa	BEFREE	28450279		★☆☆☆☆ Found in Text Mining only
Erectile dysfunction	Erectile Dysfunction	BEFREE	10932188, 24577405		★☆☆☆☆ Found in Text Mining only
Gilles de la Tourette syndrome	Tourette Syndrome	GWASCAT_DG	25158072		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	23737374, 28059652		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	23737374, 28059652		★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	BEFREE	24497984		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	30925093, 31217373		★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypohidrosis	Hypohidrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of the maxilla	Hypoplasia of the maxilla	HPO_DG			★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	26240347, 34353900	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	31196050		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Irido-corneo-trabecular dysgenesis (disorder)	Anterior segment dysgenesis	BEFREE	29305299		★☆☆☆☆ Found in Text Mining only
Keratitis Herpetic	Herpetic keratitis	Pubtator	35119473	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	26058814		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	21886831	Associate	★☆☆☆☆ Found in Text Mining only
Macrodontia	Macrodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	24386110, 27801578		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	31440821		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	30221498		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	17327376, 20455254		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	17164781, 20455254, 28515320, 29256146, 30097713, 30917374		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microdontia (disorder)	Microdontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	BEFREE	22507623		★☆☆☆☆ Found in Text Mining only
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9	Nail Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nail dysplasia	Nail dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16904340, 17164781, 26261495, 31123052		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	18005714		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	24130898		★☆☆☆☆ Found in Text Mining only
Obsessive-Compulsive Disorder	Obsessive-Compulsive Disorder	GWASCAT_DG	25158072		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Orofacial Cleft 1	Orofacial cleft	Pubtator	17089422, 19715471, 25966106, 27527345	Associate	★☆☆☆☆ Found in Text Mining only
OROFACIAL CLEFT 1	Orofacial Cleft	BEFREE	19715471		★☆☆☆☆ Found in Text Mining only
OROFACIAL CLEFT 7	Orofacial cleft	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Oropharyngeal Dysphagia	Oropharyngeal Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Palmoplantar Keratosis	Palmoplantar Keratosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	29256146		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	20455254		★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia Vera	BEFREE	15534229, 17652377, 19161552		★☆☆☆☆ Found in Text Mining only
Recurrent otitis media	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sepsis	Sepsis	Pubtator	34769069	Associate	★☆☆☆☆ Found in Text Mining only
Situs inversus totalis	Situs Inversus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin neoplasm	Pubtator	16879022	Inhibit	★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	17164781, 17525764		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	30221498		★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	BEFREE	24577405		★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	Pubtator	9758630	Associate	★☆☆☆☆ Found in Text Mining only
Syndactyly of fingers	Syndactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly of the toes	Syndactyly Of The Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Synophrys	Synophrys	HPO_DG			★☆☆☆☆ Found in Text Mining only
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)	Arthrocutaneouveal granulomatosis	BEFREE	28836875		★☆☆☆☆ Found in Text Mining only
Teratozoospermia	Teratozoospermia	BEFREE	28689229		★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	17327376, 20455254		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	17327376, 20455254		★☆☆☆☆ Found in Text Mining only
Uranostaphyloschisis	Uranostaphyloschisis	BEFREE	16674562, 24581844		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	34625065	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	16879022	Associate	★☆☆☆☆ Found in Text Mining only
Van der Woude syndrome	Van Der Woude Syndrome	BEFREE	14994877		★☆☆☆☆ Found in Text Mining only
Velopharyngeal Insufficiency	Velopharyngeal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Zlotogora-Ogur syndrome	Cleft lip/palate-ectodermal dysplasia syndrome	GENOMICS_ENGLAND_DG	10932188, 11559849		★☆☆☆☆ Found in Text Mining only
Zlotogora-Ogur syndrome	Cleft lip/palate-ectodermal dysplasia syndrome	ORPHANET_DG	10932188		★☆☆☆☆ Found in Text Mining only
Zlotogora-Ogur syndrome	Cleft lip/palate-ectodermal dysplasia syndrome	CTD_human_DG	10932188		★☆☆☆☆ Found in Text Mining only
Zlotogora-Ogur syndrome	Cleft lip/palate-ectodermal dysplasia syndrome	BEFREE	14994877, 20691405, 25913853		★☆☆☆☆ Found in Text Mining only
Zlotogora-Ogur syndrome	Cleft lip/palate-ectodermal dysplasia syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only