COL13A1 (collagen type XIII alpha 1 chain)

Gene

• Entrez ID: 1305
• Gene name: Collagen type XIII alpha 1 chain
• Gene symbol: COL13A1
• Synonyms (NCBI Gene): CMS19, COLXIIIA1
• Chromosome: 10
• Chromosome location: 10q22.1
• Summary: This gene encodes the alpha chain of one of the nonfibrillar collagens. The function of this gene product is not known, however, it has been detected at low levels in all connective tissue-producing cells so it may serve a general function in connective t

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs375471249	T>C	Likely-pathogenic	Splice donor variant, intron variant
rs763281993	A>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs769426298	C>G,T	Pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant, missense variant, non coding transcript variant
rs864309662	G>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs864309663	G>-	Pathogenic	Non coding transcript variant, coding sequence variant, 5 prime UTR variant, splice acceptor variant
rs1554943789	T>C	Likely-pathogenic	Intron variant, splice donor variant
rs1554967575	->A	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT706674	hsa-miR-124-3p	HITS-CLIP	21572407
MIRT706695	hsa-miR-3714	HITS-CLIP	21572407
MIRT706696	hsa-miR-3910	HITS-CLIP	21572407
MIRT706694	hsa-miR-3664-5p	HITS-CLIP	21572407
MIRT706693	hsa-miR-6808-5p	HITS-CLIP	21572407
MIRT706692	hsa-miR-6893-5p	HITS-CLIP	21572407
MIRT706691	hsa-miR-940	HITS-CLIP	21572407
MIRT706690	hsa-miR-1182	HITS-CLIP	21572407
MIRT706689	hsa-miR-4639-3p	HITS-CLIP	21572407
MIRT706688	hsa-miR-1304-3p	HITS-CLIP	21572407
MIRT706687	hsa-miR-1267	HITS-CLIP	21572407
MIRT706686	hsa-miR-367-5p	HITS-CLIP	21572407
MIRT706685	hsa-miR-4746-3p	HITS-CLIP	21572407
MIRT706684	hsa-miR-3135b	HITS-CLIP	21572407
MIRT706683	hsa-miR-504-3p	HITS-CLIP	21572407
MIRT706682	hsa-miR-122-5p	HITS-CLIP	21572407
MIRT706681	hsa-miR-1207-5p	HITS-CLIP	21572407
MIRT706680	hsa-miR-4763-3p	HITS-CLIP	21572407
MIRT706679	hsa-miR-3652	HITS-CLIP	21572407
MIRT706678	hsa-miR-4430	HITS-CLIP	21572407
MIRT706677	hsa-miR-3944-5p	HITS-CLIP	21572407
MIRT706676	hsa-miR-6501-5p	HITS-CLIP	21572407
MIRT706675	hsa-miR-4423-5p	HITS-CLIP	21572407
MIRT706674	hsa-miR-124-3p	HITS-CLIP	21572407
MIRT706673	hsa-miR-506-3p	HITS-CLIP	21572407
MIRT706672	hsa-miR-6794-3p	HITS-CLIP	21572407
MIRT706671	hsa-miR-744-3p	HITS-CLIP	21572407
MIRT706670	hsa-miR-4477b	HITS-CLIP	21572407
MIRT706669	hsa-miR-7856-5p	HITS-CLIP	21572407
MIRT706674	hsa-miR-124-3p	HITS-CLIP	21572407
MIRT706695	hsa-miR-3714	HITS-CLIP	21572407
MIRT706696	hsa-miR-3910	HITS-CLIP	21572407
MIRT706694	hsa-miR-3664-5p	HITS-CLIP	21572407
MIRT706693	hsa-miR-6808-5p	HITS-CLIP	21572407
MIRT706692	hsa-miR-6893-5p	HITS-CLIP	21572407
MIRT706691	hsa-miR-940	HITS-CLIP	21572407
MIRT706690	hsa-miR-1182	HITS-CLIP	21572407
MIRT706689	hsa-miR-4639-3p	HITS-CLIP	21572407
MIRT706688	hsa-miR-1304-3p	HITS-CLIP	21572407
MIRT706687	hsa-miR-1267	HITS-CLIP	21572407
MIRT706686	hsa-miR-367-5p	HITS-CLIP	21572407
MIRT706685	hsa-miR-4746-3p	HITS-CLIP	21572407
MIRT706684	hsa-miR-3135b	HITS-CLIP	21572407
MIRT706683	hsa-miR-504-3p	HITS-CLIP	21572407
MIRT706682	hsa-miR-122-5p	HITS-CLIP	21572407
MIRT706681	hsa-miR-1207-5p	HITS-CLIP	21572407
MIRT706680	hsa-miR-4763-3p	HITS-CLIP	21572407
MIRT706679	hsa-miR-3652	HITS-CLIP	21572407
MIRT706678	hsa-miR-4430	HITS-CLIP	21572407
MIRT706677	hsa-miR-3944-5p	HITS-CLIP	21572407
MIRT706676	hsa-miR-6501-5p	HITS-CLIP	21572407
MIRT706675	hsa-miR-4423-5p	HITS-CLIP	21572407
MIRT706674	hsa-miR-124-3p	HITS-CLIP	21572407
MIRT706673	hsa-miR-506-3p	HITS-CLIP	21572407
MIRT706672	hsa-miR-6794-3p	HITS-CLIP	21572407
MIRT706671	hsa-miR-744-3p	HITS-CLIP	21572407
MIRT706670	hsa-miR-4477b	HITS-CLIP	21572407
MIRT706669	hsa-miR-7856-5p	HITS-CLIP	21572407
MIRT902467	hsa-miR-3665	CLIP-seq
MIRT902468	hsa-miR-657	CLIP-seq
MIRT1967698	hsa-miR-1303	CLIP-seq
MIRT1967699	hsa-miR-4716-5p	CLIP-seq
MIRT1967700	hsa-miR-579	CLIP-seq
MIRT2203514	hsa-miR-1972	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001503	Process	Ossification	IEA
GO:0001763	Process	Morphogenesis of a branching structure	ISS
GO:0001958	Process	Endochondral ossification	ISS
GO:0005515	Function	Protein binding	IPI	11956183
GO:0005576	Component	Extracellular region	TAS
GO:0005581	Component	Collagen trimer	IEA
GO:0005600	Component	Collagen type XIII trimer	TAS	2459707, 9624150
GO:0005604	Component	Basement membrane	IBA
GO:0005788	Component	Endoplasmic reticulum lumen	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	9624150
GO:0007155	Process	Cell adhesion	IEA
GO:0007160	Process	Cell-matrix adhesion	IPI	11956183
GO:0008201	Function	Heparin binding	IDA	11956183
GO:0008201	Function	Heparin binding	IEA
GO:0016020	Component	Membrane	IEA
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	IBA
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	RCA	25037231, 28675934
GO:0030154	Process	Cell differentiation	IEA
GO:0031012	Component	Extracellular matrix	HDA	25037231, 28675934
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0098609	Process	Cell-cell adhesion	IEP	10865988

Other IDs

• MIM: 120350
• HGNC: 2190
• e!Ensembl: ENSG00000197467

Protein

• UniProt ID: Q5TAT6
• Protein name: Collagen alpha-1(XIII) chain (COLXIIIA1)
• Protein function: Involved in cell-matrix and cell-cell adhesion interactions that are required for normal development. May participate in the linkage between muscle fiber and basement membrane. May play a role in endochondral ossification of bone and branching m
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01391	Collagen	156 → 216	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	257 → 322	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	285 → 340	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	318 → 383	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	382 → 441	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	463 → 522	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	506 → 567	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	566 → 625	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	643 → 712	Collagen triple helix repeat (20 copies)	Repeat

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed in both fetal and adult ocular tissues (at protein level). In the eye, expression is accentuated in the ciliary muscle, optic nerve and the neural retina. In early placenta, localized to fibroblastoid stromal cells of
• Sequence:

  MVAERTHKAAATGARGPGELGAPGTVALVAARAERGARLPSPGSCGLLTLALCSLALSLL
  AHFRTAELQARVLRLEAERGEQQMETAILGRVNQLLDEKWKLHSRRRREAPKTSPGCNCP
  PGPPGPTGRPGLPGDKGAIGMPGRVGSPGDAGLSIIGPRGPPGQPGTRGFPGFPGPIGLD
  GKPGHPGPKGDMGLTGPPGQPGPQGQKGEKGQCGEYPHRECLSSMPAALRSSQIIALKLL
  PLLNSVRLAPPPVIKRRTFQGEQSQASIQGPPGPPGPPGPSGPLGHPGLPGPMGPPGLPG
  PPGPKGDPGIQGYHGRKGERGMPGMPGKHGAKGAPGIAVAGMKGEPGIPGTKGEKGAEGS
  PGLPGLLGQKGEKGDAGNSIGGGRGEPGPPGLPGPPGPKGEAGVDGQVGPPGQPGDKGER
  GAAGEQGPDGPKGSKGEPGKGEMVDYNGNINEALQEIRTLALMGPPGLPGQIGPPGAPGI
  PGQKGEIGLPGPPGHDGEKGPRGKPGDMGPPGPQGPPGKDGPPGVKGENGHPGSPGEKGE
  KGETGQAGSPGEKGEAGEKGNPGAEVPGLPGPEGPPGPPGLQGVPGPKGEAGLDGAKGEK
  GFQGEKGDRGPLGLPGASGLDGRPGPPGTPGPIGVPGPAGPKGERGSKGDPGMTGPTGAA
  GLPGLHGPPGDKGNRGERGKKGSRGPKGDKGDQGAPGLDAPCPLGEDGLPVQGCWNK

• Sequence length: 717

Pathways

KEGG:

Protein digestion and absorption

Reactome:

Collagen degradation
Collagen biosynthesis and modifying enzymes
Integrin cell surface interactions
Collagen chain trimerization

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
Congenital myasthenic syndrome 19	Likely pathogenic; Pathogenic	rs763197055, rs2136077497, rs2134842358, rs2135829327, rs769673346, rs1480562957, rs864309662, rs864309663, rs2544717844, rs763281993, rs1057204973, rs2545815673, rs1554943789, rs2064735979, rs1564932829, rs2065959942, rs759296053	RCV003136050 RCV001543594 RCV001543595 RCV001543596 RCV001780804 RCV002272855 RCV000203254 RCV000203249 RCV002789987 RCV003492024 RCV003447874 RCV003493228 RCV000578262 RCV001253101 RCV001254694 RCV001261648 RCV005042673	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic	rs894208635	RCV005928392	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CIRRHOSIS OF LIVER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COL13A1-related disorder	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGEN MYASTHENIC SYNDROMES PRESYNAPTIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROME, CONGENITAL, 19	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROMES, CONGENITAL	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POSTSYNAPTIC CONGEN MYASTHENIC SYNDROMES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POSTSYNAPTIC CONGENITAL MYASTHENIC SYNDROME	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRESYNAPTIC CONGENITAL MYASTHENIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRESYNAPTIC CONGENITAL MYASTHENIC SYNDROMES	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SIALOLITHIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ 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
Acquired Kyphoscoliosis	Acquired Kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	28415608, 28837258		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bulbar palsy	Bulbar palsy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	28837258		★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Dysplasia Of The Hip	Developmental dysplasia of the hip	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital kyphoscoliosis	Congenital kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Myasthenic Syndromes, Postsynaptic	Myasthenic Syndrome	ORPHANET_DG	26626625		★☆☆☆☆ Found in Text Mining only
Congenital Myasthenic Syndromes, Postsynaptic	Myasthenic Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Congenital Myasthenic Syndromes, Presynaptic	Myasthenic Syndrome	ORPHANET_DG	26626625		★☆☆☆☆ Found in Text Mining only
Congenital Myasthenic Syndromes, Presynaptic	Myasthenic Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus carinatum	Congenital Pectus Carinatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	20060954		★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Distal amyotrophy	Distal amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Esotropia	Esotropia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fatty Liver Alcoholic	Fatty liver, alcoholic	Pubtator	26845607	Associate	★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gross motor development delay	Developmental delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lambert-Eaton Myasthenic Syndrome	Lambert-Eaton Myasthenic Syndrome	BEFREE	29363764, 31081514		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	GWASCAT_DG	20708005		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	28837258		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28415608		★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	CTD_human_DG	18539642		★☆☆☆☆ Found in Text Mining only
Myasthenias	Myasthenia Gravis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myasthenic Syndrome	Myasthenic Syndrome	BEFREE	29363764, 31081514		★☆☆☆☆ Found in Text Mining only
MYASTHENIC SYNDROME, CONGENITAL, 19	Myasthenic Syndrome	GENOMICS_ENGLAND_DG	26626625		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROME, CONGENITAL, 19	Myasthenic Syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myasthenic Syndromes Congenital	Myasthenic syndrome	Pubtator	31081514, 35337379, 36308527	Associate	★☆☆☆☆ Found in Text Mining only
Myasthenic Syndromes, Congenital	Myasthenic Syndrome	BEFREE	28369367, 29363764, 30767057, 31081514		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myasthenic Syndromes, Congenital	Myasthenic Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myasthenic Syndromes, Congenital, Slow Channel	Myasthenic Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	GWASDB_DG	21211798		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	GWASCAT_DG	20708005		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	20060954	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	33926256	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	GWASCAT_DG	23793441		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	GWASDB_DG	23793441		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polyneuropathy, Motor	Polyneuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Postsynaptic congenital myasthenic syndromes	Myasthenic Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Presynaptic congenital myasthenic syndromes	Myasthenic Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scleroderma Diffuse	Scleroderma	Pubtator	27111861	Associate	★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Central	Sleep Apnea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	34999279	Associate	★☆☆☆☆ Found in Text Mining only
Sudden episodic apnea	Sudden episodic apnea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	27779685	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	28837258	Stimulate	★☆☆☆☆ Found in Text Mining only