BCAR1 (BCAR1 scaffold protein, Cas family member)

Gene

• Entrez ID: 9564
• Gene name: BCAR1 scaffold protein, Cas family member
• Gene symbol: BCAR1
• Synonyms (NCBI Gene): CAS, CAS1, CASS1, CRKAS, P130Cas
• Chromosome: 16
• Chromosome location: 16q23.1
• Summary: The protein encoded by this gene is a member of the Crk-associated substrate (CAS) family of scaffold proteins, characterized by the presence of multiple protein-protein interaction domains and many serine and tyrosine phosphorylation sites. The encoded p

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT697058	hsa-miR-548aa	HITS-CLIP	23313552
MIRT697057	hsa-miR-548ap-3p	HITS-CLIP	23313552
MIRT697056	hsa-miR-548t-3p	HITS-CLIP	23313552
MIRT697055	hsa-miR-4694-3p	HITS-CLIP	23313552
MIRT697054	hsa-miR-224-3p	HITS-CLIP	23313552
MIRT697053	hsa-miR-522-3p	HITS-CLIP	23313552
MIRT697052	hsa-miR-580-5p	HITS-CLIP	23313552
MIRT697051	hsa-miR-105-5p	HITS-CLIP	23313552
MIRT697050	hsa-miR-7853-5p	HITS-CLIP	23313552
MIRT697049	hsa-miR-509-3p	HITS-CLIP	23313552
MIRT697048	hsa-miR-3148	HITS-CLIP	23313552
MIRT697047	hsa-miR-6124	HITS-CLIP	23313552
MIRT697046	hsa-miR-139-3p	HITS-CLIP	23313552
MIRT697045	hsa-miR-3978	HITS-CLIP	23313552
MIRT697058	hsa-miR-548aa	HITS-CLIP	23313552
MIRT697057	hsa-miR-548ap-3p	HITS-CLIP	23313552
MIRT697056	hsa-miR-548t-3p	HITS-CLIP	23313552
MIRT697055	hsa-miR-4694-3p	HITS-CLIP	23313552
MIRT697054	hsa-miR-224-3p	HITS-CLIP	23313552
MIRT697053	hsa-miR-522-3p	HITS-CLIP	23313552
MIRT697052	hsa-miR-580-5p	HITS-CLIP	23313552
MIRT697051	hsa-miR-105-5p	HITS-CLIP	23313552
MIRT697050	hsa-miR-7853-5p	HITS-CLIP	23313552
MIRT697049	hsa-miR-509-3p	HITS-CLIP	23313552
MIRT697048	hsa-miR-3148	HITS-CLIP	23313552
MIRT697047	hsa-miR-6124	HITS-CLIP	23313552
MIRT697046	hsa-miR-139-3p	HITS-CLIP	23313552
MIRT697045	hsa-miR-3978	HITS-CLIP	23313552
MIRT817503	hsa-miR-3649	CLIP-seq
MIRT817504	hsa-miR-4270	CLIP-seq
MIRT817505	hsa-miR-4300	CLIP-seq
MIRT817506	hsa-miR-4421	CLIP-seq
MIRT817507	hsa-miR-4441	CLIP-seq
MIRT817508	hsa-miR-4487	CLIP-seq
MIRT817509	hsa-miR-4731-5p	CLIP-seq
MIRT817510	hsa-miR-615-5p	CLIP-seq
MIRT817511	hsa-miR-920	CLIP-seq
MIRT1941695	hsa-miR-1197	CLIP-seq
MIRT1941696	hsa-miR-1291	CLIP-seq
MIRT1941697	hsa-miR-146b-3p	CLIP-seq
MIRT1941698	hsa-miR-1470	CLIP-seq
MIRT1941699	hsa-miR-193a-3p	CLIP-seq
MIRT1941700	hsa-miR-193b	CLIP-seq
MIRT1941701	hsa-miR-328	CLIP-seq
MIRT1941702	hsa-miR-329	CLIP-seq
MIRT1941703	hsa-miR-331-3p	CLIP-seq
MIRT1941704	hsa-miR-339-5p	CLIP-seq
MIRT1941705	hsa-miR-342-3p	CLIP-seq
MIRT817503	hsa-miR-3649	CLIP-seq
MIRT1941706	hsa-miR-3688-5p	CLIP-seq
MIRT1941707	hsa-miR-4299	CLIP-seq
MIRT817506	hsa-miR-4421	CLIP-seq
MIRT1941708	hsa-miR-4431	CLIP-seq
MIRT1941709	hsa-miR-4456	CLIP-seq
MIRT1941710	hsa-miR-4469	CLIP-seq
MIRT817508	hsa-miR-4487	CLIP-seq
MIRT1941711	hsa-miR-4651	CLIP-seq
MIRT1941712	hsa-miR-4667-3p	CLIP-seq
MIRT1941713	hsa-miR-4687-5p	CLIP-seq
MIRT817509	hsa-miR-4731-5p	CLIP-seq
MIRT1941714	hsa-miR-4793-3p	CLIP-seq
MIRT1941715	hsa-miR-489	CLIP-seq
MIRT1941716	hsa-miR-508-5p	CLIP-seq
MIRT1941717	hsa-miR-548q	CLIP-seq
MIRT1941718	hsa-miR-564	CLIP-seq
MIRT1941719	hsa-miR-608	CLIP-seq
MIRT817510	hsa-miR-615-5p	CLIP-seq
MIRT1941720	hsa-miR-658	CLIP-seq
MIRT1941721	hsa-miR-766	CLIP-seq
MIRT817510	hsa-miR-615-5p	CLIP-seq
MIRT1941702	hsa-miR-329	CLIP-seq
MIRT1941706	hsa-miR-3688-5p	CLIP-seq
MIRT817506	hsa-miR-4421	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
EGR1	Activation	22431919
NAB2	Activation	22431919

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001558	Process	Regulation of cell growth	TAS	11607844
GO:0001726	Component	Ruffle	IDA	9472046
GO:0005515	Function	Protein binding	IPI	9285683, 9360983, 9407132, 9418872, 9748234, 10339567, 10542110, 10587647, 10889023, 11158326, 11782456, 12799422, 14657239, 14688263, 15866871, 16105984, 16245368, 17038317, 17474147, 18164686, 18722344, 19086031, 19732724, 20534451, 21034468, 22081014, 27880917, 28007913, 31413325
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	8070403
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	21245381
GO:0005925	Component	Focal adhesion	IBA
GO:0005925	Component	Focal adhesion	IDA	21245381
GO:0005925	Component	Focal adhesion	IEA
GO:0005925	Component	Focal adhesion	ISS
GO:0007015	Process	Actin filament organization	IDA	16105984
GO:0007155	Process	Cell adhesion	IEA
GO:0007169	Process	Cell surface receptor protein tyrosine kinase signaling pathway	IBA
GO:0007169	Process	Cell surface receptor protein tyrosine kinase signaling pathway	IEA
GO:0007173	Process	Epidermal growth factor receptor signaling pathway	ISS
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	ISS
GO:0007186	Process	G protein-coupled receptor signaling pathway	NAS	10092204
GO:0007229	Process	Integrin-mediated signaling pathway	IDA	8649368
GO:0008286	Process	Insulin receptor signaling pathway	ISS
GO:0010595	Process	Positive regulation of endothelial cell migration	IDA	21245381
GO:0015629	Component	Actin cytoskeleton	IEA
GO:0016020	Component	Membrane	IEA
GO:0016477	Process	Cell migration	IBA
GO:0016477	Process	Cell migration	IDA	9425168
GO:0016477	Process	Cell migration	IEA
GO:0016477	Process	Cell migration	IEA
GO:0017124	Function	SH3 domain binding	IEA
GO:0019901	Function	Protein kinase binding	IPI	8070403, 8649368, 9020138, 9472046, 10026197
GO:0030027	Component	Lamellipodium	IEA
GO:0030335	Process	Positive regulation of cell migration	IDA	9472046
GO:0030424	Component	Axon	IEA
GO:0035729	Process	Cellular response to hepatocyte growth factor stimulus	IMP	21245381
GO:0042981	Process	Regulation of apoptotic process	TAS	11607844
GO:0042995	Component	Cell projection	IEA
GO:0048008	Process	Platelet-derived growth factor receptor signaling pathway	IEA
GO:0048008	Process	Platelet-derived growth factor receptor signaling pathway	ISS
GO:0048010	Process	Vascular endothelial growth factor receptor signaling pathway	IMP	21245381
GO:0048011	Process	Neurotrophin TRK receptor signaling pathway	ISS
GO:0048012	Process	Hepatocyte growth factor receptor signaling pathway	IMP	21245381
GO:0050851	Process	Antigen receptor-mediated signaling pathway	IDA	10587647
GO:0050852	Process	T cell receptor signaling pathway	NAS	9295052
GO:0050853	Process	B cell receptor signaling pathway	IDA	9020138
GO:0051301	Process	Cell division	NAS	10675905
GO:0060326	Process	Cell chemotaxis	IMP	21245381
GO:0070161	Component	Anchoring junction	IEA
GO:0086100	Process	Endothelin receptor signaling pathway	IDA	19086031

Other IDs

• MIM: 602941
• HGNC: 971
• e!Ensembl: ENSG00000050820

Protein

• UniProt ID: P56945
• Protein name: Breast cancer anti-estrogen resistance protein 1 (CRK-associated substrate) (Cas scaffolding protein family member 1) (p130cas)
• Protein function: Docking protein which plays a central coordinating role for tyrosine kinase-based signaling related to cell adhesion (PubMed:12432078, PubMed:12832404). Implicated in induction of cell migration and cell branching (PubMed:12432078, PubMed:128324
• PDB: 1WYX, 3T6G, 5O2M, 5O2P, 5O2Q
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00018	SH3_1	9 → 57	SH3 domain	Domain
  PF08824	Serine_rich	454 → 608	Serine rich protein interaction domain	Domain
  PF12026	CAS_C	654 → 864	Crk-Associated Substrate C-terminal domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in B-cells (at protein level) (PubMed:9020138). Widely expressed with an abundant expression in the testis (PubMed:10639512). Low level of expression seen in the liver, thymus, and peripheral blood leukocytes (PubMed:10639512
• Sequence:

  MNHLNVLAKALYDNVAESPDELSFRKGDIMTVLEQDTQGLDGWWLCSLHGRQGIVPGNRL
  KILVGMYDKKPAGPGPGPPATPAQPQPGLHAPAPPASQYTPMLPNTYQPQPDSVYLVPTP
  SKAQQGLYQVPGPSPQFQSPPAKQTSTFSKQTPHHPFPSPATDLYQVPPGPGGPAQDIYQ
  VPPSAGMGHDIYQVPPSMDTRSWEGTKPPAKVVVPTRVGQGYVYEAAQPEQDEYDIPRHL
  LAPGPQDIYDVPPVRGLLPSQYGQEVYDTPPMAVKGPNGRDPLLEVYDVPPSVEKGLPPS
  NHHAVYDVPPSVSKDVPDGPLLREETYDVPPAFAKAKPFDPARTPLVLAAPPPDSPPAED
  VYDVPPPAPDLYDVPPGLRRPGPGTLYDVPRERVLPPEVADGGVVDSGVYAVPPPAEREA
  PAEGKRLSASSTGSTRSSQSASSLEVAGPGREPLELEVAVEALARLQQGVSATVAHLLDL
  AGSAGATGSWRSPSEPQEPLVQDLQAAVAAVQSAVHELLEFARSAVGNAAHTSDRALHAK
  LSRQLQKMEDVHQTLVAHGQALDAGRGGSGATLEDLDRLVACSRAVPEDAKQLASFLHGN
  ASLLFRRTKATAPGPEGGGTLHPNPTDKTSSIQSRPLPSPPKFTSQDSPDGQYENSEGGW
  MEDYDYVHLQGKEEFEKTQKELLEKGSITRQGKSQLELQQLKQFERLEQEVSRPIDHDLA
  NWTPAQPLAPGRTGGLGPSDRQLLLFYLEQCEANLTTLTNAVDAFFTAVATNQPPKIFVA
  HSKFVILSAHKLVFIGDTLSRQAKAADVRSQVTHYSNLLCDLLRGIVATTKAAALQYPSP
  SAAQDMVERVKELGHSTQQFRRVLGQLAAA

• Sequence length: 870

Pathways

KEGG:

Rap1 signaling pathway
Chemokine signaling pathway
Efferocytosis
Focal adhesion
Leukocyte transendothelial migration
Regulation of actin cytoskeleton
Growth hormone synthesis, secretion and action
Bacterial invasion of epithelial cells
Shigellosis
Yersinia infection
Human cytomegalovirus infection

Reactome:

Downstream signal transduction
p130Cas linkage to MAPK signaling for integrins
VEGFA-VEGFR2 Pathway
PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases

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
Hereditary breast ovarian cancer syndrome	Likely pathogenic	rs1597262107	RCV001374512	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BRAIN ANEURYSM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, DUCTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ATHEROSCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ 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
Actinic keratosis	Actinic keratosis	BEFREE	15598753		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	23287717		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	23904007, 27941559		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Endometrioid	Endometrial Cancer	BEFREE	29364471		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	9854589		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	28570763		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	31281277		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	31281277		★☆☆☆☆ Found in Text Mining only
Apraxia, Developmental Verbal	Apraxia	BEFREE	22909774, 27155185, 30266356, 31221009, 31221010		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	30542083		★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	30541503		★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	Pubtator	27834916	Associate	★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	BEFREE	27941559		★☆☆☆☆ Found in Text Mining only
Benign Neoplasm	Benign Neoplasm	BEFREE	1723634		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	23345605		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	10639512, 10639513, 11008210, 11724300, 14583477, 15448007, 17192874, 17427198, 17616674, 18256281, 18435854, 19029090, 19330798, 19412734, 19454314, 20961652, 22431919, 24169358, 24457433, 24584939, 25805500, 25938342, 26247733, 26337669, 26716506, 26867768, 27449292, 27622508, 29304771, 30422386, 30683095, 30816273, 8413311, 8880875		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	10639513, 15642172, 17427198, 17616674, 18256281, 18974122, 19029090, 19330798, 19454314, 20961652, 22431919, 24169358, 24584939, 26716506, 27622508, 33334252, 9056741	Associate	★☆☆☆☆ Found in Text Mining only
Bulbo-Spinal Atrophy, X-Linked	Bulbospinal Atrophy, X-Linked	BEFREE	31537808		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	22558353	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	11008210, 1360498, 22431919, 27622508		★☆☆☆☆ Found in Text Mining only
Carcinoma Endometrioid	Endometrioid carcinoma	Pubtator	29364471	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	23904007, 26312766, 27677288, 9056741		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	26637171	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	23904007	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Endometrioid	Endometrioid cancer	BEFREE	29364471		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	21957230		★☆☆☆☆ Found in Text Mining only
Carotid Atherosclerosis	Carotid Atherosclerosis	BEFREE	30186852		★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Carotid artery stenosis	BEFREE	28474136, 30355202, 31025147, 31201981		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	28887238, 29524497, 30341824, 30355202, 30418006, 30922980		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	30341970		★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	BEFREE	30987467, 31221009		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	7651399		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	LHGDN	17982677		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	22710723		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	18392556, 29693170	Associate	★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	28628499		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	23152477, 26276885		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	23152477, 26276885		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Vasospasm	Coronary Artery Vasospasm	BEFREE	28766048		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	23152477, 26276885		★☆☆☆☆ Found in Text Mining only
Coronary Stenosis	Coronary Stenosis	BEFREE	28766048		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	28628499, 31281277		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	28224925		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	28224925, 30048166		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	26053495	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	25273842, 26053495, 30188962	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	23457408, 25951451, 26053495, 30188962		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	31221009, 31221010		★☆☆☆☆ Found in Text Mining only
Ductal Breast Carcinoma	Breast Carcinoma	BEFREE	23701402, 9142183		★☆☆☆☆ Found in Text Mining only
Ductal Carcinoma	Ductal Carcinoma	BEFREE	23701402		★☆☆☆☆ Found in Text Mining only
Ductal Carcinoma	Ductal Carcinoma	CTD_human_DG	29295717		★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	BEFREE	31221010		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	28333195		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	28333195	Associate	★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	30542083		★☆☆☆☆ Found in Text Mining only
ESTROGEN RESISTANCE	Estrogen Resistance	BEFREE	17427198, 19330798, 19412734		★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	23536552		★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	BEFREE	31345156		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	18704117, 26418954, 29743287		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	27293031	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	18704117, 29743287		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	21245381		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	21245381	Associate	★☆☆☆☆ Found in Text Mining only
Graves Ophthalmopathy	Graves ophthalmopathy	Pubtator	30593716	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	28628499		★☆☆☆☆ Found in Text Mining only
Hemophilia A	Hemophilia a	Pubtator	35314527	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Angioedema Type III	Hereditary angioedema	Pubtator	17427198	Associate	★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	28602666		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	28602666		★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism, Primary	Hyperparathyroidism	BEFREE	9606285		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	30542083	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
leukemia	Leukemia	BEFREE	23287717, 8963895		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	23287717	Stimulate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	29100287		★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	21291860, 21630091		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	18842495		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	24799195, 31470077		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	11295109		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	23042269, 29132432, 30867848, 33001583, 33334252, 36400248	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	23042269	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic Metastasis	BEFREE	23904007		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	23904007, 29364471	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	23287717		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	23287717, 36375119	Associate	★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	32246154	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	10639512, 10639513, 11724300, 14583477, 15448007, 16651418, 17192874, 17427198, 17616674, 18256281, 18435854, 19029090, 19330798, 19412734, 19454314, 20505116, 20961652, 22431919, 24169358, 24457433, 24584939, 25805500, 25938342, 26247733, 26337669, 26716506, 26867768, 27449292, 29304771, 30422386, 30683095, 30816273, 8413311, 8880875		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	23904007, 26312766, 27677288, 9056741		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	21630091		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	21957230		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	CTD_human_DG	26098869		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	17192874, 29304771		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	29295717		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	1723634, 20688056, 20886051, 22710723, 24584939, 27622508, 29304771, 29697367, 29743287, 30422386, 8158775		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	11008210, 11693462, 15448007, 19330798, 20505116, 22431919, 23098208, 25805500, 26867768, 30816273, 31308057		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	15448007, 17616674, 19029090		★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	BEFREE	10368674, 8213640		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	10587647, 16040804	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	16040804, 18078823		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	18538130, 24281418, 27068854		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	28628499, 31281277		★☆☆☆☆ Found in Text Mining only
Metastatic Prostate Carcinoma	Metastatic Prostate Carcinoma	BEFREE	20470445		★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	21291860	Associate	★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyp	Pubtator	14567719	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10639513, 15448007, 16452211, 16651418, 18281492, 19412734, 20470445, 2047381, 20505116, 21957230, 23904007, 24799195, 26247733, 26337669, 26356564, 27068854, 28337997, 29304771, 7651399, 9472046		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	17828307		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	17828307	Associate	★☆☆☆☆ Found in Text Mining only
Nevus	Nevus	BEFREE	10368674, 8213640		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	23904007		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	30770289		★☆☆☆☆ Found in Text Mining only
Osteoarthritis, Knee	Knee osteoarthritis	BEFREE	28889222		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	29714810		★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	BEFREE	21957230		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	21957230		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	27622508	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	GWASCAT_DG	25086665, 29422604		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic Neoplasm	Pancreatic Neoplasm	CTD_human_DG	26098869		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	31917448, 33517887, 34192548	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parathyroid Adenoma	Parathyroid Adenoma	BEFREE	9854589		★☆☆☆☆ Found in Text Mining only
Pleural effusion disorder	Pleural effusion	BEFREE	28287043		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	17192874, 29304771		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	12738793		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	29295717		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	29295717, 29304771	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	1733409		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	12472286		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	31823148		★☆☆☆☆ Found in Text Mining only
Speech Delay	Speech Delay	BEFREE	31221009		★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	BEFREE	31221009		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	23904007		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	23047035	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	28438299		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	37928269	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid associated opthalmopathies	Thyroid eye disease	BEFREE	29336220, 30048166, 30593716		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	23592522		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	25482942	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	23345605, 24494199, 33571114	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	25100830, 25136604	Associate	★☆☆☆☆ Found in Text Mining only
Wiskott-Aldrich Syndrome	Wiskott-Aldrich Syndrome	LHGDN	12135674		★☆☆☆☆ Found in Text Mining only