TAGLN (transgelin)

Gene

• Entrez ID: 6876
• Gene name: Transgelin
• Gene symbol: TAGLN
• Synonyms (NCBI Gene): SM22, SM22-alpha, SMCC, TAGLN1, TGLN, WS3-10
• Chromosome: 11
• Chromosome location: 11q23.3
• Summary: This gene encodes a shape change and transformation sensitive actin-binding protein which belongs to the calponin family. It is ubiquitously expressed in vascular and visceral smooth muscle, and is an early marker of smooth muscle differentiation. The enc

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT021406	hsa-miR-9-5p	Microarray	17612493
MIRT022018	hsa-miR-128-3p	Microarray	17612493
MIRT023899	hsa-miR-1-3p	Other	20458751
MIRT025891	hsa-miR-7-5p	Microarray	17612493
MIRT030313	hsa-miR-26b-5p	Microarray	19088304
MIRT496609	hsa-miR-3714	PAR-CLIP	22291592
MIRT496608	hsa-miR-2682-5p	PAR-CLIP	22291592
MIRT496607	hsa-miR-34b-5p	PAR-CLIP	22291592
MIRT496606	hsa-miR-449c-5p	PAR-CLIP	22291592
MIRT496605	hsa-miR-1321	PAR-CLIP	22291592
MIRT496604	hsa-miR-4739	PAR-CLIP	22291592
MIRT496603	hsa-miR-4756-5p	PAR-CLIP	22291592
MIRT496602	hsa-miR-4419a	PAR-CLIP	22291592
MIRT496601	hsa-miR-4510	PAR-CLIP	22291592
MIRT496600	hsa-miR-6127	PAR-CLIP	22291592
MIRT496599	hsa-miR-6129	PAR-CLIP	22291592
MIRT496598	hsa-miR-6130	PAR-CLIP	22291592
MIRT496597	hsa-miR-6133	PAR-CLIP	22291592
MIRT496596	hsa-miR-3184-5p	PAR-CLIP	22291592
MIRT496595	hsa-miR-423-5p	PAR-CLIP	22291592
MIRT496594	hsa-miR-1249-5p	PAR-CLIP	22291592
MIRT496593	hsa-miR-6797-5p	PAR-CLIP	22291592
MIRT496592	hsa-miR-149-3p	PAR-CLIP	22291592
MIRT496591	hsa-miR-4728-5p	PAR-CLIP	22291592
MIRT496590	hsa-miR-6785-5p	PAR-CLIP	22291592
MIRT496589	hsa-miR-6883-5p	PAR-CLIP	22291592
MIRT496588	hsa-miR-486-3p	PAR-CLIP	22291592
MIRT496587	hsa-miR-6762-5p	PAR-CLIP	22291592
MIRT496586	hsa-miR-6845-5p	PAR-CLIP	22291592
MIRT496609	hsa-miR-3714	PAR-CLIP	22291592
MIRT496608	hsa-miR-2682-5p	PAR-CLIP	22291592
MIRT496607	hsa-miR-34b-5p	PAR-CLIP	22291592
MIRT496606	hsa-miR-449c-5p	PAR-CLIP	22291592
MIRT496605	hsa-miR-1321	PAR-CLIP	22291592
MIRT496604	hsa-miR-4739	PAR-CLIP	22291592
MIRT496603	hsa-miR-4756-5p	PAR-CLIP	22291592
MIRT496602	hsa-miR-4419a	PAR-CLIP	22291592
MIRT496601	hsa-miR-4510	PAR-CLIP	22291592
MIRT496600	hsa-miR-6127	PAR-CLIP	22291592
MIRT496599	hsa-miR-6129	PAR-CLIP	22291592
MIRT496598	hsa-miR-6130	PAR-CLIP	22291592
MIRT496597	hsa-miR-6133	PAR-CLIP	22291592
MIRT496596	hsa-miR-3184-5p	PAR-CLIP	22291592
MIRT496595	hsa-miR-423-5p	PAR-CLIP	22291592
MIRT496594	hsa-miR-1249-5p	PAR-CLIP	22291592
MIRT496593	hsa-miR-6797-5p	PAR-CLIP	22291592
MIRT496592	hsa-miR-149-3p	PAR-CLIP	22291592
MIRT496591	hsa-miR-4728-5p	PAR-CLIP	22291592
MIRT496590	hsa-miR-6785-5p	PAR-CLIP	22291592
MIRT496589	hsa-miR-6883-5p	PAR-CLIP	22291592
MIRT496588	hsa-miR-486-3p	PAR-CLIP	22291592
MIRT496587	hsa-miR-6762-5p	PAR-CLIP	22291592
MIRT496586	hsa-miR-6845-5p	PAR-CLIP	22291592
MIRT1410153	hsa-miR-1275	CLIP-seq
MIRT1410154	hsa-miR-28-5p	CLIP-seq
MIRT1410155	hsa-miR-3139	CLIP-seq
MIRT1410156	hsa-miR-4487	CLIP-seq
MIRT1410157	hsa-miR-4525	CLIP-seq
MIRT1410158	hsa-miR-4665-5p	CLIP-seq
MIRT1410159	hsa-miR-4723-5p	CLIP-seq
MIRT1410160	hsa-miR-4731-5p	CLIP-seq
MIRT1410161	hsa-miR-625	CLIP-seq
MIRT1410162	hsa-miR-637	CLIP-seq
MIRT1410163	hsa-miR-708	CLIP-seq
MIRT1554407	hsa-miR-1184	CLIP-seq
MIRT1554408	hsa-miR-1262	CLIP-seq
MIRT1554409	hsa-miR-1827	CLIP-seq
MIRT1554410	hsa-miR-1915	CLIP-seq
MIRT1554411	hsa-miR-22	CLIP-seq
MIRT1554412	hsa-miR-2467-5p	CLIP-seq
MIRT1554413	hsa-miR-2682	CLIP-seq
MIRT1410154	hsa-miR-28-5p	CLIP-seq
MIRT1554414	hsa-miR-3136-3p	CLIP-seq
MIRT1410155	hsa-miR-3139	CLIP-seq
MIRT1554415	hsa-miR-3150b-3p	CLIP-seq
MIRT1554416	hsa-miR-3160-5p	CLIP-seq
MIRT1554417	hsa-miR-3173-3p	CLIP-seq
MIRT1554418	hsa-miR-3184	CLIP-seq
MIRT1554419	hsa-miR-3188	CLIP-seq
MIRT1554420	hsa-miR-328	CLIP-seq
MIRT1554421	hsa-miR-34a	CLIP-seq
MIRT1554422	hsa-miR-34c-5p	CLIP-seq
MIRT1554423	hsa-miR-361-3p	CLIP-seq
MIRT1554424	hsa-miR-3653	CLIP-seq
MIRT1554425	hsa-miR-3975	CLIP-seq
MIRT1554426	hsa-miR-4259	CLIP-seq
MIRT1554427	hsa-miR-4270	CLIP-seq
MIRT1554428	hsa-miR-4316	CLIP-seq
MIRT1554429	hsa-miR-4441	CLIP-seq
MIRT1554430	hsa-miR-4455	CLIP-seq
MIRT1554431	hsa-miR-4488	CLIP-seq
MIRT1554432	hsa-miR-449a	CLIP-seq
MIRT1554433	hsa-miR-449b	CLIP-seq
MIRT1554434	hsa-miR-449c	CLIP-seq
MIRT1554435	hsa-miR-4505	CLIP-seq
MIRT1554436	hsa-miR-4640-3p	CLIP-seq
MIRT1554437	hsa-miR-4649-3p	CLIP-seq
MIRT1554438	hsa-miR-4656	CLIP-seq
MIRT1554439	hsa-miR-4697-5p	CLIP-seq
MIRT1554440	hsa-miR-4701-3p	CLIP-seq
MIRT1554441	hsa-miR-4710	CLIP-seq
MIRT1554442	hsa-miR-4726-3p	CLIP-seq
MIRT1410160	hsa-miR-4731-5p	CLIP-seq
MIRT1554443	hsa-miR-4784	CLIP-seq
MIRT1554444	hsa-miR-485-5p	CLIP-seq
MIRT1554445	hsa-miR-555	CLIP-seq
MIRT1554446	hsa-miR-558	CLIP-seq
MIRT1554447	hsa-miR-604	CLIP-seq
MIRT1410162	hsa-miR-637	CLIP-seq
MIRT1554448	hsa-miR-647	CLIP-seq
MIRT1410163	hsa-miR-708	CLIP-seq
MIRT1554449	hsa-miR-764	CLIP-seq
MIRT1554450	hsa-miR-765	CLIP-seq
MIRT1554451	hsa-miR-935	CLIP-seq
MIRT1554452	hsa-miR-940	CLIP-seq
MIRT2433768	hsa-miR-1587	CLIP-seq
MIRT2433769	hsa-miR-4492	CLIP-seq
MIRT2433770	hsa-miR-4498	CLIP-seq
MIRT1554435	hsa-miR-4505	CLIP-seq
MIRT1554438	hsa-miR-4656	CLIP-seq
MIRT2433771	hsa-miR-762	CLIP-seq
MIRT2433768	hsa-miR-1587	CLIP-seq
MIRT2433769	hsa-miR-4492	CLIP-seq
MIRT2433770	hsa-miR-4498	CLIP-seq
MIRT1554435	hsa-miR-4505	CLIP-seq
MIRT1554438	hsa-miR-4656	CLIP-seq
MIRT2433771	hsa-miR-762	CLIP-seq
MIRT1554407	hsa-miR-1184	CLIP-seq
MIRT1554408	hsa-miR-1262	CLIP-seq
MIRT2638336	hsa-miR-140-3p	CLIP-seq
MIRT1554409	hsa-miR-1827	CLIP-seq
MIRT1410154	hsa-miR-28-5p	CLIP-seq
MIRT1410155	hsa-miR-3139	CLIP-seq
MIRT2638337	hsa-miR-3187-3p	CLIP-seq
MIRT2638338	hsa-miR-330-3p	CLIP-seq
MIRT1554428	hsa-miR-4316	CLIP-seq
MIRT2638339	hsa-miR-4435	CLIP-seq
MIRT2638340	hsa-miR-4446-3p	CLIP-seq
MIRT2638341	hsa-miR-4453	CLIP-seq
MIRT1554430	hsa-miR-4455	CLIP-seq
MIRT1410156	hsa-miR-4487	CLIP-seq
MIRT2638342	hsa-miR-4538	CLIP-seq
MIRT1554438	hsa-miR-4656	CLIP-seq
MIRT2638343	hsa-miR-4685-5p	CLIP-seq
MIRT1554440	hsa-miR-4701-3p	CLIP-seq
MIRT2638344	hsa-miR-4701-5p	CLIP-seq
MIRT1554441	hsa-miR-4710	CLIP-seq
MIRT1410160	hsa-miR-4731-5p	CLIP-seq
MIRT2638345	hsa-miR-493	CLIP-seq
MIRT2638346	hsa-miR-548s	CLIP-seq
MIRT2638347	hsa-miR-588	CLIP-seq
MIRT2638348	hsa-miR-602	CLIP-seq
MIRT1554447	hsa-miR-604	CLIP-seq
MIRT1410162	hsa-miR-637	CLIP-seq
MIRT1554448	hsa-miR-647	CLIP-seq
MIRT1410163	hsa-miR-708	CLIP-seq
MIRT1554452	hsa-miR-940	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
KLF4	Unknown	19486889
MKL1	Activation	14970199
SRF	Activation	14970199

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003779	Function	Actin binding	IEA
GO:0005515	Function	Protein binding	IPI	21044950, 22245152, 32296183
GO:0005737	Component	Cytoplasm	IEA
GO:0007517	Process	Muscle organ development	TAS	9615232
GO:0030855	Process	Epithelial cell differentiation	IDA	21492153

Other IDs

• MIM: 600818
• HGNC: 11553
• e!Ensembl: ENSG00000149591

Protein

• UniProt ID: Q01995
• Protein name: Transgelin (22 kDa actin-binding protein) (Protein WS3-10) (Smooth muscle protein 22-alpha) (SM22-alpha)
• Protein function: Actin cross-linking/gelling protein (By similarity). Involved in calcium interactions and contractile properties of the cell that may contribute to replicative senescence.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00307	CH	24 → 139	Calponin homology (CH) domain	Domain
  PF00402	Calponin	175 → 199	Calponin family repeat	Repeat

• Sequence:

  MANKGPSYGMSREVQSKIEKKYDEELEERLVEWIIVQCGPDVGRPDRGRLGFQVWLKNGV
  ILSKLVNSLYPDGSKPVKVPENPPSMVFKQMEQVAQFLKAAEDYGVIKTDMFQTVDLFEG
  KDMAAVQRTLMALGSLAVTKNDGHYRGDPNWFMKKAQEHKREFTESQLQEGKHVIGLQMG
  SNRGASQAGMTGYGRPRQIIS

• Sequence length: 201

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLONIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL SQUAMOUS CELL CARCINOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIPIDOSES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIPOIDOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	LHGDN	18446369		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	19848416, 24938684		★☆☆☆☆ Found in Text Mining only
Adult Hepatocellular Carcinoma	Liver carcinoma	BEFREE	24476357		★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	10073960, 31494396		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm	Aortic Aneurysm	BEFREE	29515022		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	22310065, 30580562, 30905780		★☆☆☆☆ Found in Text Mining only
Aortic Dissection	Aortic dissection	Pubtator	27320219, 33910387	Inhibit	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	21862018, 23497784, 30354209		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	19011151		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	LHGDN	19011151		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	21862018, 23497784, 30354209		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	34794617, 37967346	Associate	★☆☆☆☆ Found in Text Mining only
Atypical Teratoid Rhabdoid Tumor	Teratoid Rhabdoid Tumor	BEFREE	29408713		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	28117838		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	28117838	Associate	★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	30633156, 31420300		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	GWASCAT_DG	29059430		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	23936147	Inhibit	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	25841305, 28058861, 29059430	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	37834385	Stimulate	★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary dysplasia	Pubtator	24828686, 30001393	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	26344167	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	19848416		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	34001947	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	30633156, 31420300		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	15378762, 19350537		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	22798525		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	34902367	Associate	★☆☆☆☆ Found in Text Mining only
Childhood Hepatocellular Carcinoma	Liver carcinoma	BEFREE	24476357		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	31519772		★☆☆☆☆ Found in Text Mining only
Chronic Periodontitis	Periodontitis	BEFREE	30922293		★☆☆☆☆ Found in Text Mining only
Chronic Periodontitis	Periodontitis	Pubtator	30922293	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	11773051		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	11773051		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colonic Neoplasms	Colonic Neoplasms	LHGDN	11773051		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colonic Neoplasms	Colonic Neoplasms	CTD_human_DG	15059925		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colonic Polyps	Colonic polyps	Pubtator	37365287	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	19329940, 19724680, 23138394, 26847345, 29416680, 29725466		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	19329940, 32353950	Inhibit	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	19724680, 23138394, 23372686, 27270312, 33096021	Associate	★☆☆☆☆ Found in Text Mining only
Congenital heart disease	Congenital Heart Disease	BEFREE	30338626		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	31296099		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	30361065		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	30338626		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	23331552		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	29949406	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	35768543	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	23331552		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	36949528	Associate	★☆☆☆☆ Found in Text Mining only
Diaphyseal medullary stenosis with malignant fibrous histiocytoma	Diaphyseal bone disorder	Pubtator	12401825	Associate	★☆☆☆☆ Found in Text Mining only
Dissection of aorta	Aortic dissection	BEFREE	27320219, 28239811, 29515022		★☆☆☆☆ Found in Text Mining only
Dystrophia myotonica 2	Myotonic dystrophy	BEFREE	30517030		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	20236630	Associate	★☆☆☆☆ Found in Text Mining only
Endometrioma	Endometrioma	CTD_human_DG	21063030		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	CTD_human_DG	21063030		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometriosis	Endometriosis	BEFREE	21763649		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Erectile Dysfunction	Erectile dysfunction	Pubtator	38111702	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	28392898		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	26344167	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	28392898		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	15986332, 21517111, 26344167	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	29020885	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	37203411	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Focal glomerulosclerosis	Glomerulosclerosis	BEFREE	21677441		★☆☆☆☆ Found in Text Mining only
Folic Acid Deficiency	Folic Acid Deficiency	BEFREE	17320366		★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	24657443		★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	24657443	Associate	★☆☆☆☆ Found in Text Mining only
Gallstones	Gallstones	Pubtator	25671835	Stimulate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	BEFREE	21677441		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis, Membranoproliferative	Glomerulonephritis	BEFREE	21289056		★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis (disorder)	Glomerulosclerosis	BEFREE	21677441		★☆☆☆☆ Found in Text Mining only
Hallopeau-Siemens Disease	DYSTROPHIC EPIDERMOLYSIS BULLOSA	BEFREE	30816994		★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	30338626	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	31296099		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	31161871		★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	29059430	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	24464808		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	15026807	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	22245152	Stimulate	★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	30338626		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	18245174		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	21289056		★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma	Leiomyosarcoma	Pubtator	23178314, 25991737	Associate	★☆☆☆☆ Found in Text Mining only
Lipoidosis	Lipoidosis	CTD_human_DG	15342952, 16919414, 17175557		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver carcinoma	Liver carcinoma	BEFREE	17341888, 23734827, 24476357, 25185798, 28301817		★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	19177598	Associate	★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	25185798		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	39676863	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	27402083	Inhibit	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	27402083		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	19724680, 26344167	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Childhood Neoplasm	Malignant Neoplasm	GWASCAT_DG	29059430		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	28392898		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	24657443		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	24476357		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	15378762, 15922865, 19350537		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	23331552		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	17082327, 20012321		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	30633156, 31420300		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11008214, 15547752, 19329940, 19350537, 20707403, 23510049, 26847345, 28058861, 29296211, 29416680, 30918060		★☆☆☆☆ Found in Text Mining only
Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	25109740		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	11773051		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	CTD_human_DG	15059925		★☆☆☆☆ Found in Text Mining only
Marfan Syndrome	Marfan Syndrome	BEFREE	29371244, 31678158		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	26502640		★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	39308508	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	30361065		★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	38013282	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11503213, 15922865, 18378184, 19329940, 22245152, 22257561, 23331552, 23510049, 23734827, 24476357, 25318625, 26242444, 26847345, 29615809, 30290263, 30301526		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	Pubtator	25109740	Stimulate	★☆☆☆☆ Found in Text Mining only
Neurofibrosarcoma	Neurofibrosarcoma	Pubtator	25109740	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	12401825, 35665757	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	25318625		★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	BEFREE	28770041		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	31315664, 36222710	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	23331552		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	23331552		★☆☆☆☆ Found in Text Mining only
Pelvic Organ Prolapse	Pelvic organ prolapse	Pubtator	26612295	Inhibit	★☆☆☆☆ Found in Text Mining only
Pentalogy of Cantrell	Pentalogy Of Cantrell	BEFREE	29483576		★☆☆☆☆ Found in Text Mining only
Plexiform Neurofibroma	Plexiform neurofibroma	BEFREE	25109740		★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	BEFREE	28770041		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	17082327, 20012321		★☆☆☆☆ Found in Text Mining only
Prostatic Hyperplasia	Prostatic hyperplasia	Pubtator	37781794	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	17082327		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	24264315, 28510269, 37781794	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	33771884	Inhibit	★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	30338626		★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	30338626, 32813135	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	36411774	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	18245174		★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	BEFREE	30760649		★☆☆☆☆ Found in Text Mining only
Rhabdoid Tumor	Rhabdoid Tumor	BEFREE	14662021		★☆☆☆☆ Found in Text Mining only
Rhabdoid Tumor	Rhabdoid tumor	Pubtator	14662021	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	30760649		★☆☆☆☆ Found in Text Mining only
Sarcoma Endometrial Stromal	Endometrial stromal sarcoma	Pubtator	25991737	Associate	★☆☆☆☆ Found in Text Mining only
SMITH-MCCORT DYSPLASIA 1	Smith-McCort Dysplasia	BEFREE	30262154, 31441677		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	26242444		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	CTD_human_DG	21517111		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	29020885		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	26242444	Stimulate	★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	23510049		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	12923326, 32410620	Associate	★☆☆☆☆ Found in Text Mining only
synovial sarcoma	Synovial sarcoma	BEFREE	30680066		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	23413114, 31234888		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	25841305, 34326372	Associate	★☆☆☆☆ Found in Text Mining only
Ureteral Obstruction	Urethral obstruction	Pubtator	38013282	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	21483740, 21672358, 30633156	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Incontinence Stress	Stress urinary incontinence	Pubtator	22136672	Associate	★☆☆☆☆ Found in Text Mining only
Werner Syndrome	Werner Syndrome	BEFREE	1712899		★☆☆☆☆ Found in Text Mining only
Werner Syndrome	Werner syndrome	Pubtator	1712899, 8134370	Associate	★☆☆☆☆ Found in Text Mining only