PLG (plasminogen)

Gene

• Entrez ID: 5340
• Gene name: Plasminogen
• Gene symbol: PLG
• Synonyms (NCBI Gene): HAE4
• Chromosome: 6
• Chromosome location: 6q26
• Summary: The plasminogen protein encoded by this gene is a serine protease that circulates in blood plasma as an inactive zymogen and is converted to the active protease, plasmin, by several plasminogen activators such as tissue plasminogen activator (tPA), urokin

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs73015965	A>G	Benign, pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs121918027	G>A	Conflicting-interpretations-of-pathogenicity, pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs121918028	G>T	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs121918029	T>C	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs121918030	G>A	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs121918031	G>A,C	Pathogenic	Genic downstream transcript variant, missense variant, stop gained, coding sequence variant
rs121918032	G>A,T	Pathogenic	Genic downstream transcript variant, missense variant, stop gained, coding sequence variant
rs121918033	G>A	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs121918034	GAA>-	Pathogenic	Genic downstream transcript variant, inframe deletion, coding sequence variant
rs606231210	G>-	Pathogenic	Genic downstream transcript variant, splice donor variant, coding sequence variant
rs756287836	G>A	Risk-factor	Missense variant, coding sequence variant, genic downstream transcript variant
rs886042477	G>T	Pathogenic	Splice donor variant
rs889957249	A>G	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1242627	hsa-miR-1301	CLIP-seq
MIRT1242628	hsa-miR-181a	CLIP-seq
MIRT1242629	hsa-miR-181b	CLIP-seq
MIRT1242630	hsa-miR-181c	CLIP-seq
MIRT1242631	hsa-miR-181d	CLIP-seq
MIRT1242632	hsa-miR-3140-3p	CLIP-seq
MIRT1242633	hsa-miR-4262	CLIP-seq
MIRT1242634	hsa-miR-4328	CLIP-seq
MIRT1242635	hsa-miR-4660	CLIP-seq
MIRT1242636	hsa-miR-4666-5p	CLIP-seq
MIRT1242637	hsa-miR-4684-3p	CLIP-seq
MIRT1242638	hsa-miR-4768-5p	CLIP-seq
MIRT1242639	hsa-miR-5047	CLIP-seq
MIRT1242640	hsa-miR-543	CLIP-seq
MIRT1242641	hsa-miR-570	CLIP-seq
MIRT1242642	hsa-miR-217	CLIP-seq
MIRT1242643	hsa-miR-3130-3p	CLIP-seq
MIRT1242644	hsa-miR-3607-5p	CLIP-seq
MIRT1242645	hsa-miR-410	CLIP-seq
MIRT1242646	hsa-miR-4418	CLIP-seq
MIRT1242647	hsa-miR-4475	CLIP-seq
MIRT1242648	hsa-miR-4712-3p	CLIP-seq
MIRT1242649	hsa-miR-4785	CLIP-seq
MIRT1242650	hsa-miR-509-3-5p	CLIP-seq
MIRT1242651	hsa-miR-509-5p	CLIP-seq
MIRT1242652	hsa-miR-627	CLIP-seq
MIRT1242653	hsa-miR-767-5p	CLIP-seq
MIRT2298804	hsa-miR-3126-5p	CLIP-seq
MIRT2298805	hsa-miR-3713	CLIP-seq
MIRT2298806	hsa-miR-4742-3p	CLIP-seq
MIRT2298807	hsa-miR-549	CLIP-seq
MIRT2595695	hsa-miR-1276	CLIP-seq
MIRT2595696	hsa-miR-3647-3p	CLIP-seq
MIRT2595697	hsa-miR-409-3p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
SRF	Activation	15514113

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002020	Function	Protease binding	IPI	7679575
GO:0004175	Function	Endopeptidase activity	IBA
GO:0004175	Function	Endopeptidase activity	IDA	7679575, 9603964
GO:0004252	Function	Serine-type endopeptidase activity	IDA	6447255, 14688145, 14699093, 17307854
GO:0004252	Function	Serine-type endopeptidase activity	IEA
GO:0004252	Function	Serine-type endopeptidase activity	IMP	18070902, 19270100, 20727989
GO:0004252	Function	Serine-type endopeptidase activity	TAS	9242524
GO:0005102	Function	Signaling receptor binding	IBA
GO:0005102	Function	Signaling receptor binding	IPI	20028034
GO:0005515	Function	Protein binding	IPI	134998, 6438154, 7679575, 9092705, 9102401, 9603964, 10077593, 11257124, 12456874, 12622818, 16319056, 16480936, 17557824, 17653767, 17849409, 19642995, 19712047, 21949403, 22087329, 22321644, 23197176, 25978044, 26627825, 26667841, 26822058, 30082873, 32814053
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	HDA	16502470
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	6216475, 6980881, 14688145, 17307854
GO:0005886	Component	Plasma membrane	TAS
GO:0006508	Process	Proteolysis	IBA
GO:0006508	Process	Proteolysis	IDA	9603964
GO:0006508	Process	Proteolysis	IEA
GO:0006508	Process	Proteolysis	IMP	18070902, 19270100
GO:0007596	Process	Blood coagulation	IEA
GO:0007596	Process	Blood coagulation	IMP	1986355
GO:0007599	Process	Hemostasis	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008236	Function	Serine-type peptidase activity	IEA
GO:0008236	Function	Serine-type peptidase activity	TAS	24263861
GO:0008285	Process	Negative regulation of cell population proliferation	TAS	8910613
GO:0009897	Component	External side of plasma membrane	IDA	14699093
GO:0009986	Component	Cell surface	IDA	14699093
GO:0009986	Component	Cell surface	IEA
GO:0010812	Process	Negative regulation of cell-substrate adhesion	IDA	14699093
GO:0016485	Process	Protein processing	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0019899	Function	Enzyme binding	IPI	12666133, 12818429, 12867553, 14688145, 17307854, 17849409, 17892475, 17964283, 18070902, 19270100, 19433310, 19574304, 20727989, 21106936, 22025510, 22087329
GO:0019900	Function	Kinase binding	IEA
GO:0019900	Function	Kinase binding	IPI	24196407
GO:0019904	Function	Protein domain specific binding	IPI	9786936, 20028034
GO:0022617	Process	Extracellular matrix disassembly	IDA	14699093
GO:0031012	Component	Extracellular matrix	HDA	25037231, 28675934
GO:0031093	Component	Platelet alpha granule lumen	TAS
GO:0034185	Function	Apolipoprotein binding	IEA
GO:0034185	Function	Apolipoprotein binding	IPI	16480936
GO:0042246	Process	Tissue regeneration	IEA
GO:0042730	Process	Fibrinolysis	IDA	14688145, 17307854, 22025510
GO:0042730	Process	Fibrinolysis	IEA
GO:0043536	Process	Positive regulation of blood vessel endothelial cell migration	IGI	21106936
GO:0045445	Process	Myoblast differentiation	IEA
GO:0046716	Process	Muscle cell cellular homeostasis	IEA
GO:0048771	Process	Tissue remodeling	IEA
GO:0051087	Function	Protein-folding chaperone binding	IPI	17307854, 17849409, 19574304
GO:0051702	Process	Biological process involved in interaction with symbiont	IDA	12818429
GO:0051918	Process	Negative regulation of fibrinolysis	IDA	14726399
GO:0051919	Process	Positive regulation of fibrinolysis	IDA	6438154, 26667841
GO:0060707	Process	Trophoblast giant cell differentiation	IEA
GO:0060716	Process	Labyrinthine layer blood vessel development	IEA
GO:0070062	Component	Extracellular exosome	HDA	19199708, 23533145
GO:0071674	Process	Mononuclear cell migration	IEA
GO:0072562	Component	Blood microparticle	HDA	22516433
GO:0098685	Component	Schaffer collateral - CA1 synapse	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099183	Process	Trans-synaptic signaling by BDNF, modulating synaptic transmission	IEA
GO:1990405	Function	Protein antigen binding	IPI	17849409
GO:2000048	Process	Negative regulation of cell-cell adhesion mediated by cadherin	TAS	17203182

Other IDs

• MIM: 173350
• HGNC: 9071
• e!Ensembl: ENSG00000122194

Protein

• UniProt ID: P00747
• Protein name: Plasminogen (EC 3.4.21.7) [Cleaved into: Plasmin heavy chain A; Activation peptide; Angiostatin; Plasmin heavy chain A, short form; Plasmin light chain B]
• Protein function: Plasmin dissolves the fibrin of blood clots and acts as a proteolytic factor in a variety of other processes including embryonic development, tissue remodeling, tumor invasion, and inflammation. In ovulation, weakens the walls of the Graafian fo
• PDB: 1B2I, 1BML, 1BUI, 1CEA, 1CEB, 1DDJ, 1HPJ, 1HPK, 1I5K, 1KI0, 1KRN, 1L4D, 1L4Z, 1PK4, 1PKR, 1PMK, 1QRZ, 1RJX, 2DOH, 2DOI, 2KNF, 2L0S, 2PK4, 3UIR, 4A5T, 4CIK, 4DCB, 4DUR, 4DUU, 5HPG, 5UGD, 5UGG, 6D3X, 6D3Y, 6D3Z, 6D40, 6OG4, 6OQJ, 6OQK, 6Q1U, 6UZ4, 6UZ5, 7E50, 7THS, 7UAH, 8F7U, 8F7V, 8UQ6, 9AZK
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00024	PAN_1	23 → 99	PAN domain	Domain
  PF00051	Kringle	103 → 181	Kringle domain	Domain
  PF00051	Kringle	185 → 262	Kringle domain	Domain
  PF00051	Kringle	275 → 352	Kringle domain	Domain
  PF00051	Kringle	377 → 454	Kringle domain	Domain
  PF00051	Kringle	481 → 560	Kringle domain	Domain
  PF00089	Trypsin	581 → 803	Trypsin	Domain

• Tissue specificity: TISSUE SPECIFICITY: Present in plasma and many other extracellular fluids. It is synthesized in the liver.
• Sequence:

  MEHKEVVLLLLLFLKSGQGEPLDDYVNTQGASLFSVTKKQLGAGSIEECAAKCEEDEEFT
  CRAFQYHSKEQQCVIMAENRKSSIIIRMRDVVLFEKKVYLSECKTGNGKNYRGTMSKTKN
  GITCQKWSSTSPHRPRFSPATHPSEGLEENYCRNPDNDPQGPWCYTTDPEKRYDYCDILE
  CEEECMHCSGENYDGKISKTMSGLECQAWDSQSPHAHGYIPSKFPNKNLKKNYCRNPDRE
  LRPWCFTTDPNKRWELCDIPRCTTPPPSSGPTYQCLKGTGENYRGNVAVTVSGHTCQHWS
  AQTPHTHNRTPENFPCKNLDENYCRNPDGKRAPWCHTTNSQVRWEYCKIPSCDSSPVSTE
  QLAPTAPPELTPVVQDCYHGDGQSYRGTSSTTTTGKKCQSWSSMTPHRHQKTPENYPNAG
  LTMNYCRNPDADKGPWCFTTDPSVRWEYCNLKKCSGTEASVVAPPPVVLLPDVETPSEED
  CMFGNGKGYRGKRATTVTGTPCQDWAAQEPHRHSIFTPETNPRAGLEKNYCRNPDGDVGG
  PWCYTTNPRKLYDYCDVPQCAAPSFDCGKPQVEPKKCPGRVVGGCVAHPHSWPWQVSLRT
  RFGMHFCGGTLISPEWVLTAAHCLEKSPRPSSYKVILGAHQEVNLEPHVQEIEVSRLFLE
  PTRKDIALLKLSSPAVITDKVIPACLPSPNYVVADRTECFITGWGETQGTFGAGLLKEAQ
  LPVIENKVCNRYEFLNGRVQSTELCAGHLAGGTDSCQGDSGGPLVCFEKDKYILQGVTSW
  GLGCARPNKPGVYVRVSRFVTWIEGVMRNN

• Sequence length: 810

Pathways

KEGG:

Neuroactive ligand-receptor interaction
Complement and coagulation cascades
Staphylococcus aureus infection
Influenza A

Reactome:

Platelet degranulation
Degradation of the extracellular matrix
Activation of Matrix Metalloproteinases
Signaling by PDGF
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Dissolution of Fibrin Clot

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
Angioedema, hereditary, 4	Likely pathogenic; Pathogenic	rs73015965, rs889957249, rs1582955358	RCV005042050 RCV001507288 RCV001507289	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Deep venous thrombosis	Likely pathogenic; Pathogenic	rs73015965	RCV002221996	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dysplasminogenemia	Pathogenic	rs121918028, rs121918029	RCV000014543 RCV000014544	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary angioedema with normal C1Inh	Pathogenic	rs1582955358	RCV001027412	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary angioneurotic edema	Pathogenic	rs889957249	RCV000768407	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Otitis media, susceptibility to	Likely pathogenic; Pathogenic	rs73015965	RCV000999694	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Plasminogen deficiency, type I	Likely pathogenic; Pathogenic	rs2115181746, rs121918030, rs121918031, rs121918032, rs606231210, rs73015965, rs889957249, rs1777777927	RCV001535942 RCV000014545 RCV000014546 RCV000014547 RCV000014550 RCV000014551 RCV005034336 RCV001030447	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PLG-related disorder	Likely pathogenic; Pathogenic	rs2484376042, rs889957249	RCV003419022 RCV003420282	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Abnormal bleeding	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANGIOEDEMAS, HEREDITARY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATYPICAL HEMOLYTIC UREMIC SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atypical hemolytic-uremic syndrome	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★☆☆☆ 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
CHRONIC KIDNEY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONJUNCTIVITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cystic fibrosis	risk factor	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
DEEP VEIN THROMBOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC NEPHROPATHY	—	GWAS catalog	★★☆☆☆ 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
HEART DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; -	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary angioedema type 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE, ACUTE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LARGE ARTERY STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LARYNGEAL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKOCYTE DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	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
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIODONTITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPLENIC DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombocytopenia	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
THROMBOPHILIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombus	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNIPOLAR DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VASCULITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOSIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
AA amyloidosis	AA amyloidosis	BEFREE	29520774		★☆☆☆☆ Found in Text Mining only
Activated Protein C Resistance	Activated Protein C Resistance	BEFREE	10650845, 15609280, 21225090, 9439545, 9544982		★☆☆☆☆ Found in Text Mining only
Acute Cerebrovascular Accidents	Stroke	BEFREE	18662099		★☆☆☆☆ Found in Text Mining only
Acute Coronary Syndrome	Coronary Syndrome	BEFREE	9544737		★☆☆☆☆ Found in Text Mining only
Acute Kidney Insufficiency	Acute Kidney Insufficiency	CTD_human_DG	28885000		★☆☆☆☆ Found in Text Mining only
Acute Kidney Tubular Necrosis	Renal tubular necrosis	BEFREE	8943484		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	29852400		★☆☆☆☆ Found in Text Mining only
Acute pancreatitis	Pancreatitis	BEFREE	31774228		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	10099141, 12165291, 28687976		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	15515049, 1850957, 1855221, 7664291		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	18366077		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	9006343		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	7841059, 9544982		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyps	Adenomatous Polyposis	BEFREE	7841059		★☆☆☆☆ Found in Text Mining only
Adult Oligodendroglioma	Oligodendroglioma	BEFREE	1776845		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	12657615, 12766088		★☆☆☆☆ Found in Text Mining only
Aggressive Periodontitis	Aggressive Periodontitis	BEFREE	25466412, 28548211		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	16828203, 22232349	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	16828203		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	21298325, 29520774, 30018138, 30678343		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	39278909	Associate	★☆☆☆☆ Found in Text Mining only
Androgen-Insensitivity Syndrome	Androgen-Insensitivity Syndrome	BEFREE	31530188		★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	23376284		★☆☆☆☆ Found in Text Mining only
Angioedemas Hereditary	Angioedema	Pubtator	30394658, 31771982, 32066472, 32578786, 33593719, 33799813, 36418094, 36787826, 37992228	Associate	★☆☆☆☆ Found in Text Mining only
Angioedemas, Hereditary	Angioedema	BEFREE	20143645, 27130860, 27826093, 28795768, 2935973, 30809376, 30827947, 31131012, 31167185, 31507620, 3965500, 621394, 8426080		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Angioedemas, Hereditary	Angioedema	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	18366077		★☆☆☆☆ Found in Text Mining only
Antiphospholipid Syndrome	Antiphospholipid Syndrome	BEFREE	11037896, 23519427, 31059997		★☆☆☆☆ Found in Text Mining only
Antithrombin III Deficiency	Antithrombin Deficiency	BEFREE	27459142, 8266926		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm	Aortic Aneurysm	BEFREE	21166705		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	9013920	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	10805895, 16082623, 20513153, 20561659, 25065555, 28834317, 9013920		★☆☆☆☆ Found in Text Mining only
Aortic Dissection	Aortic dissection	Pubtator	9013920	Associate	★☆☆☆☆ Found in Text Mining only
Appendicitis	Appendicitis	BEFREE	19153874		★☆☆☆☆ Found in Text Mining only
Arterial Occlusive Diseases	Arterial occlusive disease	Pubtator	25069814	Stimulate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	11001801, 11208485, 11739291, 12669679, 14515193, 15095009, 15905115, 16968709, 19132220, 19874473, 20127289, 20965889, 21536666, 21719525, 23150653, 25466412, 28052305, 28382527, 28548211, 28762059, 28768900, 30371230, 7615162, 7670960, 8667502, 9186598, 9386151, 9799211, 9915664		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	Pubtator	9013920	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	15095009, 29296974, 30922783, 8054359		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	23701120	Stimulate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	28767591, 8142655	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	17723126		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	19098125, 19604112, 19878584, 20816667, 22479620, 24111848, 27624865, 27659252, 30053974		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	24111848	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	11814314, 11939722, 8012944		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	11001801, 11208485, 11739291, 12669679, 14515193, 15095009, 15905115, 16968709, 19874473, 20127289, 20965889, 21536666, 21719525, 23150653, 25466412, 28052305, 28382527, 28548211, 28762059, 28768900, 30371230, 7615162, 7670960, 9186598, 9386151, 9799211, 9915664		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	17606760, 23118497	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	17655664, 31849809		★☆☆☆☆ Found in Text Mining only
Atypical Hemolytic Uremic Syndrome	Hemolytic uremic syndrome	Pubtator	24029428, 37611544	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atypical Hemolytic Uremic Syndrome	Hemolytic Uremic Syndrome	BEFREE	27194432, 28939980		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AURAL ATRESIA, CONGENITAL	Aural Atresia, Congenital	BEFREE	12754271		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	26290361	Inhibit	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	21328570		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	15841177		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet disease	Pubtator	37940896	Associate	★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	12778082, 17921261		★☆☆☆☆ Found in Text Mining only
Blister	Blister	Pubtator	15008985	Associate	★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood Coagulation Disorders	BEFREE	19029443, 2445779, 28737691, 30451372		★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood coagulation disorder	Pubtator	34232570	Associate	★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood coagulation disorder	Pubtator	34354045	Inhibit	★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet disorder	Pubtator	22543060	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	17593251	Associate	★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Cerebral Ischemia	BEFREE	29978354		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	12241114		★☆☆☆☆ Found in Text Mining only
Brain Tumor, Primary	Brain Neoplasms	BEFREE	28442916		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	10482694, 10522772, 10930085, 11522269, 11555606, 12142386, 14729636, 15073104, 15226768, 15472905, 15586231, 17079488, 17709314, 18204793, 19351570, 19407555, 20079732, 20383413, 21199807, 22044461, 23201006, 23291383, 23400595, 25373557, 28924209, 29769125, 29893327, 30646864, 31359505, 7542667, 7695959, 8119299, 8569179, 8861840		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	12230559, 17257442, 19845941, 22467324, 24457100, 27221823, 28924209, 35454092, 37753740, 9635833, 9662256	Associate	★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	28382003		★☆☆☆☆ Found in Text Mining only
Bullous pemphigoid	Bullous Pemphigoid	BEFREE	15008985, 15841177		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	10390151, 12757937, 17346539, 7664291		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	36246403, 39633373	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	12778082, 17921261		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	12424612, 18568768, 19117638, 30765871		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	31718609	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	36905103	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	26831905, 32789468, 33838279, 37657024, 37919386, 39247556, 39348357	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	1918364		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	12743121, 20200565, 22158046, 23174953, 27935848, 28738361, 30924028		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	10566656, 11122772, 11209988, 11522017, 11567663, 14605330, 15630497, 17161063, 17485272, 17991725, 18377159, 19132220, 20127289, 21195592, 26884864, 27792942, 28505046, 28768900, 29734173, 29895294, 31300468		★☆☆☆☆ Found in Text Mining only
Caroli Disease	Caroli Disease	BEFREE	19025978		★☆☆☆☆ Found in Text Mining only
Carotid Artery Diseases	Carotid artery disease	BEFREE	17115186, 21127300		★☆☆☆☆ Found in Text Mining only
Carotid Artery Diseases	Carotid artery disease	Pubtator	21127300, 36142883	Associate	★☆☆☆☆ Found in Text Mining only
Carotid Artery Thrombosis	Carotid Artery Thrombosis	BEFREE	31027312		★☆☆☆☆ Found in Text Mining only
Central Nervous System Neoplasms	Central Nervous System Neoplasms	BEFREE	15894933		★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral Amyloid Angiopathy	Cerebral amyloid angiopathy	BEFREE	17662525		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	10650849, 14617754, 30539695, 3721516		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	8392398	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	11168509, 17161063, 1962336, 25231632, 27793534, 28378106, 30018956, 30507392, 31546842, 7897298		★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular Disorders	BEFREE	28378106, 8248995		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	26676222		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	26676222		★☆☆☆☆ Found in Text Mining only
Chagas Disease	Chagas disease	Pubtator	22543060	Associate	★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	31556233		★☆☆☆☆ Found in Text Mining only
Childhood Oligodendroglioma	Oligodendroglioma	BEFREE	1776845		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	22294827		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic irritative conjunctivitis	Conjunctivitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	23369837, 29058166		★☆☆☆☆ Found in Text Mining only
Chronic Periodontitis	Periodontitis	BEFREE	29520774		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	28633871		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	12627382, 1855221, 20199127, 20931209, 7737909, 8434636		★☆☆☆☆ Found in Text Mining only
Colonic Diseases	Colonic disease	Pubtator	7535283	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	9112141		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	12405290, 17804466, 23208491, 30430113, 7841059, 7948815		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	14570893, 7737909	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	14973118		★☆☆☆☆ Found in Text Mining only
Cone-Rod Dystrophy 2	Cone-rod dystrophy	BEFREE	30747207		★☆☆☆☆ Found in Text Mining only
Congenital abnormality of vein	Venous malformation	BEFREE	26319232		★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	22294827		★☆☆☆☆ Found in Text Mining only
Congenital Nephrogenic Diabetes Insipidus	Nephrogenic Diabetes Insipidus	BEFREE	1828422		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	19025978		★☆☆☆☆ Found in Text Mining only
Conjunctivitis	Conjunctivitis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Conn Adenoma	Conn Adenoma	BEFREE	19625761		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	26831905, 8691352		★☆☆☆☆ Found in Text Mining only
Corneal Neovascularization	Corneal Neovascularization	BEFREE	12920335, 23343948		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	10494775, 11884298, 16845248, 20380835, 24253546, 25466412, 28550093, 29109596, 30510136, 30870703		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	10235431, 10494775, 11884298, 16845248, 17023678, 17467713, 24253546, 25466412, 28550093, 29109596, 29344841, 30510136, 31464731, 8908392		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	LHGDN	19074676		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	GWASDB_DG	23202125		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	GWASCAT_DG	26343387		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	Pubtator	26946290, 32685059	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary heart disease	Coronary Heart Disease	BEFREE	11884298, 16845248, 24253546, 25466412, 28550093, 29109596, 29703846, 30510136, 31760103		★☆☆☆☆ Found in Text Mining only
Coronary Stenosis	Coronary stenosis	Pubtator	32685059	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Thrombosis	Coronary Thrombosis	BEFREE	30568707		★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	20537284		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	12694086, 17269998		★☆☆☆☆ Found in Text Mining only
Cutis marmorata	Cutis marmorata	BEFREE	6688517		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	2891140		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Dandy-Walker Syndrome	Dandy-Walker Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Deep Vein Thrombosis	Thrombosis	BEFREE	12692411, 18800213, 28347810, 28458391, 2944241, 31395599		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deep Vein Thrombosis	Thrombosis	CTD_human_DG	7215189		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Degenerative polyarthritis	Arthritis	BEFREE	21240498, 24318839, 29564448, 8877916, 9370880		★☆☆☆☆ Found in Text Mining only
Dementia, Vascular	Dementia	BEFREE	20709033		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	12682443		★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	21311769, 30323258		★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	29691836		★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	2121833, 31604367		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	11423472, 12669679, 17559626, 18580857, 18700166, 23699598, 28261283, 28495863, 29150012		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	11423472, 12669679, 17559626, 18580857, 18700166, 23699598, 26315791, 28193577, 28261283, 28322572, 28495863, 29150012, 29896433		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	21900290, 23699598	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	36898736, 37576973	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	29305116		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	10501817, 11208485, 14650106, 18078928, 19419896, 21800006, 28495863, 28632032, 30160528, 31756973, 31760103, 8281664		★☆☆☆☆ Found in Text Mining only
Diabetic Angiopathies	Diabetic cardiomyopathy	BEFREE	21562063		★☆☆☆☆ Found in Text Mining only
Diabetic Foot	Diabetic Foot	BEFREE	28193577		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	35991124, 36211816	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	10997695, 24443353, 26162494, 29737531		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	19419896, 28632032		★☆☆☆☆ Found in Text Mining only
Diarrhea 5 With Tufting Enteropathy Congenital	Congenital diarrhea	Pubtator	9006343	Associate	★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	3742463		★☆☆☆☆ Found in Text Mining only
Disseminated Intravascular Coagulation	Disseminated Intravascular Coagulation	BEFREE	15992667, 29552913		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	29342922		★☆☆☆☆ Found in Text Mining only
Ductal Breast Carcinoma	Breast Carcinoma	BEFREE	11706057		★☆☆☆☆ Found in Text Mining only
Duodenal Ulcer	Duodenal Ulcer	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dupuytren Contracture	Dupuytren contracture	Pubtator	37894778	Associate	★☆☆☆☆ Found in Text Mining only
Dysfibrinogenemia	Dysfibrinogenemia	BEFREE	12444311, 19809304		★☆☆☆☆ Found in Text Mining only
Dysfibrinogenemia Congenital	Dysfibrinogenemia	Pubtator	10911375	Associate	★☆☆☆☆ Found in Text Mining only
Dysfibrinogenemia, Congenital	Congenital Dysfibrinogenemia	BEFREE	3142089		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	20127289, 9263663		★☆☆☆☆ Found in Text Mining only
Dystrophia myotonica 2	Myotonic dystrophy	BEFREE	31760103		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	29691836		★☆☆☆☆ Found in Text Mining only
Edema	Edema	Pubtator	36193902	Associate	★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	BEFREE	28236848, 30254165		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	11063652, 21761413, 28303356, 9009232		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	7805923	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	10027627, 14981142, 15579491		★☆☆☆☆ Found in Text Mining only
Eosinophilic esophagitis	Eosinophilia	BEFREE	29980278		★☆☆☆☆ Found in Text Mining only
Ependymoma	Ependymoma	BEFREE	1776845		★☆☆☆☆ Found in Text Mining only
Epiretinal Membrane	Epiretinal Membrane	BEFREE	28877445		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	10390151		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	10390151		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	10666386	Associate	★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	15606380, 15673060		★☆☆☆☆ Found in Text Mining only
Excessive tearing	Excessive Tearing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Factor V deficiency	Factor V Deficiency	BEFREE	10726026		★☆☆☆☆ Found in Text Mining only
Factor V Deficiency	Factor v deficiency	Pubtator	32761872	Stimulate	★☆☆☆☆ Found in Text Mining only
Factor XII Deficiency	Factor XII Deficiency	BEFREE	9255907		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	28633871		★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	27604194		★☆☆☆☆ Found in Text Mining only
Fibrinogen Deficiency	Fibrinogen Deficiency	BEFREE	22815383, 31101623		★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	11018526, 11130727, 1281156, 1650454, 1704320, 3118190, 3126194, 3137305, 8613475, 8824249		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	28548299		★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	BEFREE	30921378, 31594897		★☆☆☆☆ Found in Text Mining only
Follicular thyroid carcinoma	Follicular Thyroid Carcinoma	BEFREE	10524570		★☆☆☆☆ Found in Text Mining only
Gallbladder anomaly congenital	Congenital Gallbladder Anomaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	16718765	Associate	★☆☆☆☆ Found in Text Mining only
Gastric ulcer	Gastric ulcer	BEFREE	12589088		★☆☆☆☆ Found in Text Mining only
Gastrointestinal inflammation	Gastrointestinal inflammation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Giant Cell Arteritis	Giant Cell Arteritis	BEFREE	28041642		★☆☆☆☆ Found in Text Mining only
Giant Cell Arteritis	Giant cell arteritis	Pubtator	28041642	Associate	★☆☆☆☆ Found in Text Mining only
Gingivitis	Gingival diseases	Pubtator	37940896	Associate	★☆☆☆☆ Found in Text Mining only
Gingivitis	Gingivitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	28827627		★☆☆☆☆ Found in Text Mining only
Glaucoma Open Angle	Open angle glaucoma	Pubtator	18615155	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	18615155		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	20467333, 20716639, 25849941, 3262361, 3697974, 9678063		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	20467333, 20716639, 26514451, 3262361, 3697974, 9678063		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	BEFREE	12241114, 16166313, 20845060, 24325546, 3121170		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	BEFREE	11920334, 12897205		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	Pubtator	12167592	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis (disorder)	Glomerulosclerosis	BEFREE	24443353		★☆☆☆☆ Found in Text Mining only
Gray Platelet Syndrome	Graves ophthalmopathy	Pubtator	3086385	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	22543060, 23598443	Associate	★☆☆☆☆ Found in Text Mining only
Hematological Disease	Hematological Disease	BEFREE	30970388		★☆☆☆☆ Found in Text Mining only
Hemoglobinuria Paroxysmal	Hemoglobinuria paroxysmal	Pubtator	18954937	Associate	★☆☆☆☆ Found in Text Mining only
Hemolytic-Uremic Syndrome	Hemolytic Uremic Syndrome	BEFREE	11460012, 28968817		★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	21310922, 35216175	Associate	★☆☆☆☆ Found in Text Mining only
Hemorrhagic Disorders	Hemorrhagic Disorders	BEFREE	12152655, 2445779, 29296720, 6681588		★☆☆☆☆ Found in Text Mining only
Hereditary Angioedema Type III	Hereditary angioedema	Pubtator	38086754	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Factor V Deficiency	Hereditary Factor V Deficiency	BEFREE	10726026		★☆☆☆☆ Found in Text Mining only
Homocystinuria	Homocystinuria	BEFREE	10650845		★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	BEFREE	29767556		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	18580857, 20561659, 28612231		★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	11159526, 6681588		★☆☆☆☆ Found in Text Mining only
Hyperlipidemia, Familial Combined	Hyperlipidemia	BEFREE	26340459		★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	8358126	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	11317134, 1719559, 20392162, 29305116, 31230006		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	CTD_human_DG	6383834		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperthyroidism	Hyperthyroidism	Pubtator	32575434	Associate	★☆☆☆☆ Found in Text Mining only
Hypoplasminogenemia	Hypoplasminogenemia	CLINGEN_DG	10215610, 10233898, 11477736, 16849641, 29321155, 9242524, 9375744, 9473227, 9501859, 9834305		★☆☆☆☆ Found in Text Mining only
Hypoplasminogenemia	Hypoplasminogenemia	BEFREE	10650845, 12945885, 15213608, 15269832, 17900274, 19141167, 21537161, 22815383, 27976734, 28275164, 29321155, 30459211, 31469483, 3219292, 9473227, 9544982		★☆☆☆☆ Found in Text Mining only
Hypoplasminogenemia	Hypoplasminogenemia	ORPHANET_DG	16849641		★☆☆☆☆ Found in Text Mining only
Hypoplasminogenemia	Hypoplasminogenemia	Orphanet			★☆☆☆☆ Found in Text Mining only
Hypoplasminogenemia	Hypoplasminogenemia	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	11023511	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic Nephrotic Syndrome	Nephrotic Syndrome	BEFREE	10669658		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	18337154		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	18491991, 26425916, 28139758, 29101610, 29474926, 29518524		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	28139758	Stimulate	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	33522725	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary hypertension	Pulmonary Hypertension	BEFREE	18337154		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	34452463	Associate	★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	19281240		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	17206678, 24496159		★☆☆☆☆ Found in Text Mining only
Inflammatory dermatosis	Dermatitis	BEFREE	21311769		★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal Diseases	BEFREE	18276785		★☆☆☆☆ Found in Text Mining only
Intestinal Volvulus	Intestinal Volvulus	BEFREE	12818429		★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial Aneurysm	BEFREE	28754830		★☆☆☆☆ Found in Text Mining only
Intracranial Embolism	Intracranial embolism	Pubtator	10911375	Associate	★☆☆☆☆ Found in Text Mining only
Intracranial Thrombosis	Intracranial thrombosis	Pubtator	10911375	Associate	★☆☆☆☆ Found in Text Mining only
Intraepithelial Neoplasia	Intraepithelial Neoplasia	BEFREE	9006343		★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	16142313		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	11168509, 15630497, 17581326, 17689414, 21903703, 27472428, 27793534, 28925023, 30160528, 30268366, 30507392, 31529593, 31530188, 31552559		★☆☆☆☆ Found in Text Mining only
Keratoconjunctivitis	Keratoconjunctivitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	26162494, 28495863, 28656379, 29648468, 31319876, 9701458		★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	20099993		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	28758975		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Failure, Acute	Kidney Failure	CTD_human_DG	28885000		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
leukemia	Leukemia	BEFREE	3840278		★☆☆☆☆ Found in Text Mining only
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	10099141, 22327096, 8142655	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	29180721		★☆☆☆☆ Found in Text Mining only
Leukocyte Disorders	Leukocyte Disorders	CTD_human_DG	30213540		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ligneous conjunctivitis	Ligneous Conjunctivitis	BEFREE	10233898, 11434676, 11931777, 16444438, 17179833, 17701212, 19689523, 21174000, 25674820, 27065432, 30165199, 30180242, 30994256, 9242524, 9255907, 9473227		★☆☆☆☆ Found in Text Mining only
Ligneous conjunctivitis	Ligneous Conjunctivitis	ORPHANET_DG	17701212		★☆☆☆☆ Found in Text Mining only
Ligneous conjunctivitis	Ligneous Conjunctivitis	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	21125336		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	12143053, 12424612, 1371701, 16809420, 19172279, 19793165, 20706793, 23188538, 24018669, 27459171, 31791275		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	28633871		★☆☆☆☆ Found in Text Mining only
Liver Failure Acute	Liver failure	Pubtator	30024701	Associate	★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	1371701, 19793165		★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	9030096		★☆☆☆☆ Found in Text Mining only
Lung Diseases, Interstitial	Lung Diseases	BEFREE	27538472		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	18568768		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	2555056		★☆☆☆☆ Found in Text Mining only
Lupus anticoagulant disorder	Lupus anticoagulant	BEFREE	10706928, 27459142		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	21719525, 23143392, 29400123, 31002598		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	31319876		★☆☆☆☆ Found in Text Mining only
Lymphangioleiomyomatosis	Lymphangiomyomatosis	BEFREE	15514113		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	3840278		★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrophage Activation Syndrome	Macrophage Activation Syndrome	BEFREE	28325863		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	18794724		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	PSYGENET_DG	18794724		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant Glioma	Glioma	BEFREE	10417767, 17233842		★☆☆☆☆ Found in Text Mining only
Malignant Meningioma	Malignant Meningioma	BEFREE	17549400		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	10482694, 10522772, 11522269, 11555606, 12142386, 14729636, 15073104, 15226768, 15472905, 15586231, 17079488, 17709314, 18204793, 19351570, 19407555, 20079732, 20383413, 21199807, 22044461, 23201006, 23291383, 23400595, 25373557, 28924209, 29893327, 30646864, 7695959, 8569179, 8641985, 8861840		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	11063652, 21761413, 28303356, 9009232		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	10390151		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	12424612, 18568768, 19117638, 30765871		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	21125336		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	12743121, 20200565, 23174953, 27935848, 28738361, 30924028		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	10482694, 9482108, 9641882		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	15016824, 16127174, 17044080, 17629406, 25672980, 2659823, 29906406, 9766566		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	22815383		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	20559690, 29072683, 31218131, 8624578		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	12778082, 17921261		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10524570, 10582698, 11223863, 11920633, 12142386, 12461559, 12533669, 12963694, 15515049, 16008557, 17044080, 17084931, 17721886, 18808175, 19055748, 19691469, 20133942, 20553606, 21199807, 22198637, 23174953, 23201006, 23259783, 2440556, 24602611, 24644264, 25407528, 25587663, 25950911, 26676222, 27351226, 28210916, 28257048, 28404945, 28697634, 2891140, 29086689, 30040489, 30130401, 30572596, 30628661, 30953603, 31176112, 3138024, 31402590, 31755385, 7737909, 8703368, 9496254		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	26676222		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	12627382, 1855221, 20199127, 20931209, 7737909, 8434636		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	8972025		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	10090848, 19407555, 22044461, 22842551		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	11251188, 15016824, 15054877, 8291613		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	15016824, 8291613, 8774480	Associate	★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	12527924, 16685436, 23441133		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	12682443		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	2555056		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	11423472, 11553182, 15297806, 21800006, 30008151, 30319420, 30753255, 31758356		★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	BEFREE	16154434, 16483878, 17470597, 23685927		★☆☆☆☆ Found in Text Mining only
Mitral Valve Prolapse Syndrome	Mitral Valve Prolapse	BEFREE	15262029		★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth Neoplasms	BEFREE	20145038		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	26869462, 28501622		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	10426151, 15735559, 23897640, 28275164		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	27194806	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	10073956, 10494775, 11229822, 12477941, 12615788, 17161063, 17656673, 17721742, 17927806, 20127289, 20380835, 21082259, 24695040, 9700201, 9733226		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial Infarction	LHGDN	17927806		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial infarction	Pubtator	35156527	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Ischemia	Myocardial Ischemia	BEFREE	20380835		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Ischemia	Myocardial ischemia	Pubtator	29396305	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopia	Myopia	Pubtator	33888814	Stimulate	★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	39377095	Associate	★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	BEFREE	29962211		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10524570, 10666386, 10681423, 10811477, 11063652, 11130727, 11278833, 11312111, 11525425, 11603427, 12571629, 12700666, 12757937, 15073104, 15205313, 15226768, 15386352, 15771956, 15893003, 16166313, 16327990, 16408192, 1648983, 1650454, 16703752, 17549400, 18204793, 18429492, 18436576, 18519796, 18528863, 1855221, 18566996, 1918364, 19214512, 19691469, 19770839, 2155139, 21606492, 21707521, 22179830, 22354580, 22590653, 22815383, 23174953, 2379161, 24647588, 24795021, 2497975, 2498314, 25176506, 25373557, 2555056, 2659823, 27286449, 27935848, 28167300, 29072683, 29123986, 29548613, 30132879, 30225958, 30646864, 30877933, 30970388, 31380170, 3697974, 8291613, 8386710, 8434636, 9142977, 922693, 9521847, 9641882, 9699667		★☆☆☆☆ Found in Text Mining only
Neoplasms, Intracranial	Intracranial Neoplasm	BEFREE	21406197		★☆☆☆☆ Found in Text Mining only
Nephritis	Nephritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	BEFREE	10669658, 11340346, 19996890, 29042083, 31269481, 31845496		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic syndrome	Pubtator	23024298	Associate	★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome, Minimal Change	Nephrotic Syndrome	BEFREE	10669658		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	24423642, 30246668		★☆☆☆☆ Found in Text Mining only
Neurilemmoma	Neurilemmoma	BEFREE	14963743		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	28925023, 30040489		★☆☆☆☆ Found in Text Mining only
neurofibroma	Neurofibroma	BEFREE	16408192		★☆☆☆☆ Found in Text Mining only
Neurofibromatoses	Neurofibromatosis	BEFREE	16408192		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	16408192		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 2	Neurofibromatosis	BEFREE	14963743		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	21911891		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	20937265, 29340706, 31821791, 9294010		★☆☆☆☆ Found in Text Mining only
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	BEFREE	27604194		★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	15226768, 17701256		★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	31125952		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	11522017, 15319168, 18037477, 18057090, 18078928, 19151845, 20127289, 20514421, 26315791, 28262235, 28378106, 29986373, 31054988		★☆☆☆☆ Found in Text Mining only
Obesity, Morbid	Obesity	BEFREE	18037477, 31128997		★☆☆☆☆ Found in Text Mining only
oligodendroglioma	Oligodendroglioma	BEFREE	1776845		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oral Submucous Fibrosis	Oral Submucous Fibrosis	BEFREE	12676256		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	17975844	Associate	★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	17559626		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	23184207		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	21283769		★☆☆☆☆ Found in Text Mining only
Ovarian Hyperstimulation Syndrome	Ovarian Hyperstimulation Syndrome	BEFREE	30232642		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	12743121, 20200565, 23174953, 27935848, 28738361, 30924028		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	10482694, 9482108, 9641882		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	28086938		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	LHGDN	17545513		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	17496331	Stimulate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	30009399	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis Chronic	Pancreatitis	Pubtator	17496331	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis, Acute Necrotizing	Necrotizing pancreatitis	BEFREE	9663255		★☆☆☆☆ Found in Text Mining only
Pancreatitis, Chronic	Pancreatitis	BEFREE	29941541		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	21106716, 22702340		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	22619171		★☆☆☆☆ Found in Text Mining only
Paroxysmal nocturnal hemoglobinuria	Paroxysmal nocturnal hemoglobinuria	BEFREE	18954937		★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	BEFREE	29304073		★☆☆☆☆ Found in Text Mining only
Pemphigoid Bullous	Bullous pemphigoid	Pubtator	15008985	Stimulate	★☆☆☆☆ Found in Text Mining only
Pemphigoid Bullous	Bullous pemphigoid	Pubtator	8879451	Associate	★☆☆☆☆ Found in Text Mining only
Pemphigus Vulgaris	Pemphigus Vulgaris	BEFREE	8162344, 9077478		★☆☆☆☆ Found in Text Mining only
Peptic Ulcer	Peptic Ulcer	BEFREE	12589088		★☆☆☆☆ Found in Text Mining only
Pericarditis	Pericarditis	BEFREE	26036227		★☆☆☆☆ Found in Text Mining only
Periodontal Diseases	Periodontal Diseases	BEFREE	17559626, 28530468		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	17608581, 19689523, 25466412, 25979345, 26172848, 27743595, 27781272, 29243487, 29520774		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Periodontitis	Periodontitis	Pubtator	37940896	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Periodontitis	Periodontitis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peripheral Arterial Diseases	Vascular Diseases	BEFREE	28728756		★☆☆☆☆ Found in Text Mining only
Peripheral Vascular Diseases	Vascular Diseases	BEFREE	10501817, 28728756		★☆☆☆☆ Found in Text Mining only
Plasminogen Deficiency, Type I	Plasminogen Deficiency	BEFREE	10066157, 12091052, 12692411, 12945885, 17900274, 26340456, 27193180, 28686706, 8865518, 8972025, 9020027		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Plasminogen Deficiency, Type I	Plasminogen Deficiency	CLINGEN_DG	10215610, 10233898, 11477736, 16849641, 29321155, 9242524, 9375744, 9473227, 9501859, 9834305		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Plasminogen Deficiency, Type I	Plasminogen Deficiency	UNIPROT_DG	10233898, 1427790, 1986355, 6216475, 6238949, 8392398, 9242524, 9858247		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Plasminogen Deficiency, Type I	Plasminogen Deficiency	GENOMICS_ENGLAND_DG	10233898		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Plasminogen Deficiency, Type I	Plasminogen Deficiency	ORPHANET_DG	16849641		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Plasminogen Deficiency, Type I	Plasminogen Deficiency	CLINVAR_DG	31064749		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Plasminogen Deficiency, Type I	Plasminogen Deficiency	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pleural effusion disorder	Pleural effusion	LHGDN	14719094		★☆☆☆☆ Found in Text Mining only
PLG-related hereditary angioedema with normal C1Inh	Hereditary Angioedema	Orphanet			★☆☆☆☆ Found in Text Mining only
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	BEFREE	31171572		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	14669168, 16483878, 17601881, 21413876, 30878040, 9619341		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	25393639	Associate	★☆☆☆☆ Found in Text Mining only
Polyendocrinopathies, Autoimmune	Autoimmune Polyendocrinopathy	BEFREE	11037896, 23519427		★☆☆☆☆ Found in Text Mining only
Progeria	Progeria	BEFREE	7862176		★☆☆☆☆ Found in Text Mining only
Proliferative diabetic retinopathy	Proliferative Diabetic Retinopathy	BEFREE	14562162		★☆☆☆☆ Found in Text Mining only
Proliferative vitreoretinopathy	Proliferative Vitreoretinopathy	BEFREE	14562162		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	15016824, 16127174, 17044080, 17629406, 25672980, 2659823, 29906406, 7479384, 9766566		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	11284727, 11449410, 15016824	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	12036889		★☆☆☆☆ Found in Text Mining only
Protein C Deficiency	Protein C Deficiency	BEFREE	3840289, 8266926		★☆☆☆☆ Found in Text Mining only
Protein S Deficiency	Protein S Deficiency	BEFREE	2966450, 8266926		★☆☆☆☆ Found in Text Mining only
Proteinuria	Proteinuria	Pubtator	23024298	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	21311769, 31758356		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	31125952		★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	18337154		★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	19023114	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	26099590, 39346628	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	12376355, 12765340, 15308506, 29474926, 29518524, 31705517, 31831767		★☆☆☆☆ Found in Text Mining only
Pulmonary Thromboembolisms	Pulmonary thromboembolism	BEFREE	9598841		★☆☆☆☆ Found in Text Mining only
Purpura, Thrombotic Thrombocytopenic	Thrombotic thrombocytopenic purpura	BEFREE	24449821, 28279966, 28981198, 29228282, 30551950		★☆☆☆☆ Found in Text Mining only
Quebec platelet disorder	Quebec Platelet Disorder	BEFREE	11435291, 18277131, 18988861, 19029443, 20007542		★☆☆☆☆ Found in Text Mining only
Reactive systemic amyloidosis	Reactive Systemic Amyloidosis	BEFREE	29520774		★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	19214512		★☆☆☆☆ Found in Text Mining only
Recurrent bronchitis	Bronchitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Recurrent otitis media	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	8691352		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	18495745, 29421776		★☆☆☆☆ Found in Text Mining only
Respiratory Tract Infections	Respiratory system infectious disease	Pubtator	26667841, 32014855	Associate	★☆☆☆☆ Found in Text Mining only
Reticulosarcoma	Reticulosarcoma	BEFREE	3742463		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	19419896		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	12942549, 3262618		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	10943860, 15998634, 22200807, 22466403, 23701120, 27781272, 28767591, 29859810, 29997113, 30008151, 30516104, 8877916, 9370880		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	17523079		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	25205258, 27796029		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	25205258		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seminoma	Seminoma	BEFREE	20403162		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	16237647, 18194423, 31401267		★☆☆☆☆ Found in Text Mining only
Sinus Thrombosis, Intracranial	Sinus Thrombosis, Intracranial	BEFREE	27314862		★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	32066472	Associate	★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	10202183		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	23261456, 2555056		★☆☆☆☆ Found in Text Mining only
SMALL PATELLA SYNDROME	SMALL PATELLA SYNDROME	BEFREE	15609280		★☆☆☆☆ Found in Text Mining only
Spondylo-ocular syndrome	Spondyloocular Syndrome	BEFREE	28707749		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	12384986, 15893003, 21833477, 2497975, 7861005, 8968087		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	10666386, 28404945		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	21641406	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	15893003		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	27385000		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	28633871		★☆☆☆☆ Found in Text Mining only
Stiff-Person Syndrome	Stiff-Person Syndrome	BEFREE	15609280		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	20559690, 29072683, 31218131, 8624578		★☆☆☆☆ Found in Text Mining only
Stomatitis	Stomatitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Synovitis	Synovitis	BEFREE	15998634		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	25894644, 27538472, 30709025		★☆☆☆☆ Found in Text Mining only
Temporal Arteritis	Temporal Arteritis	GWASCAT_DG	28041642		★☆☆☆☆ Found in Text Mining only
Thrombasthenia	Thrombasthenia	Pubtator	3086385, 40239810	Associate	★☆☆☆☆ Found in Text Mining only
Thromboembolism	Thromboembolism	Pubtator	2891140	Associate	★☆☆☆☆ Found in Text Mining only
Thrombophilia	Thrombophilia	BEFREE	10650845, 11739291, 11953626, 12140748, 12172465, 16154434, 1826407, 19132219, 1962336, 22512572, 22961244, 23519427, 23772166, 26315791, 2683188, 27314862, 27459142, 28758928, 29324332, 29407626, 6208389		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombophilia due to Activated Protein C Resistance	Thrombophilia	Pubtator	9544982	Associate	★☆☆☆☆ Found in Text Mining only
Thrombophilia, hereditary	Thrombophilia	BEFREE	1554698		★☆☆☆☆ Found in Text Mining only
Thrombophlebitis	Thrombophlebitis	Pubtator	9544982	Associate	★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	10652041, 10911375, 1986355, 22543060, 8392398	Associate	★☆☆☆☆ Found in Text Mining only
Thrombosis of cerebral veins	Thrombosis	BEFREE	12468923		★☆☆☆☆ Found in Text Mining only
Thrombotic Microangiopathies	Thrombotic Microangiopathies	BEFREE	24807299, 8943484		★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	34803909	Inhibit	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	10524570		★☆☆☆☆ Found in Text Mining only
Tomaculous neuropathy	Hereditary neuropathy with liability to pressure palsies	Pubtator	2445779	Associate	★☆☆☆☆ Found in Text Mining only
Toxic Epidermal Necrolysis	Stevens-Johnson Syndrome	BEFREE	15008985		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	37753740	Associate	★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous Sclerosis	BEFREE	3683441		★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	PSYGENET_DG	18794724		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	38000776	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervicitis	Uterine Cervicitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal Melanoma	BEFREE	10596910		★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	7891228	Associate	★☆☆☆☆ Found in Text Mining only
Vaginitis	Vaginitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Varicosity	Vulval varices	BEFREE	1783414		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	10073956, 1719559, 19132220, 27538472, 7923681, 8281664, 9349387		★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	BEFREE	28041642		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vasculitis	Vasculitis	Pubtator	28041642	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vasculitis Leukocytoclastic Cutaneous	Vasculitis	Pubtator	2121833	Associate	★☆☆☆☆ Found in Text Mining only
Venous malformation	Venous malformation	BEFREE	26319232		★☆☆☆☆ Found in Text Mining only
Venous Thrombosis	Venous thrombosis	Pubtator	12692411	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
von Willebrand Disease	von Willebrand disorder	BEFREE	29201071		★☆☆☆☆ Found in Text Mining only
Well Differentiated Oligodendroglioma	Oligodendroglioma	BEFREE	1776845		★☆☆☆☆ Found in Text Mining only
Werner Syndrome	Werner Syndrome	BEFREE	7962138		★☆☆☆☆ Found in Text Mining only