FGB (fibrinogen beta chain)

Gene

• Entrez ID: 2244
• Gene name: Fibrinogen beta chain
• Gene symbol: FGB
• Synonyms (NCBI Gene): HEL-S-78p
• Chromosome: 4
• Chromosome location: 4q31.3
• Summary: The protein encoded by this gene is the beta component of fibrinogen, a blood-borne glycoprotein comprised of three pairs of nonidentical polypeptide chains. Following vascular injury, fibrinogen is cleaved by thrombin to form fibrin which is the most abu

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs6054	C>T	Likely-benign, likely-pathogenic, pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs121909616	C>T	Other, likely-pathogenic	Missense variant, coding sequence variant
rs121909621	T>G	Pathogenic	Missense variant, coding sequence variant
rs121909622	G>A	Pathogenic	Missense variant, coding sequence variant
rs121909624	T>A,C	Pathogenic	Missense variant, coding sequence variant
rs121909625	C>T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs606231223	C>T	Pathogenic	Intron variant
rs606231224	G>T	Pathogenic	Splice donor variant
rs1578783532	T>C	Pathogenic	Coding sequence variant, missense variant
rs1578785111	G>C	Pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT005517	hsa-miR-409-3p	ELISA, Flow, Luciferase reporter assay	20570858
MIRT005526	hsa-miR-29c-3p	Luciferase reporter assay	20570858
MIRT005530	hsa-miR-144-3p	Luciferase reporter assay	20570858
MIRT005532	hsa-miR-29a-3p	Luciferase reporter assay	20570858
MIRT005534	hsa-miR-29b-3p	Luciferase reporter assay	20570858
MIRT005526	hsa-miR-29c-3p	Luciferase reporter assay	20570858
MIRT518174	hsa-miR-6890-5p	PAR-CLIP	23446348
MIRT518173	hsa-miR-3155a	PAR-CLIP	23446348
MIRT518172	hsa-miR-3155b	PAR-CLIP	23446348
MIRT518171	hsa-miR-484	PAR-CLIP	23446348
MIRT518170	hsa-miR-1279	PAR-CLIP	23446348
MIRT518169	hsa-miR-193b-5p	PAR-CLIP	23446348
MIRT518168	hsa-miR-6801-5p	PAR-CLIP	23446348
MIRT518167	hsa-miR-6832-5p	PAR-CLIP	23446348
MIRT518166	hsa-miR-197-3p	PAR-CLIP	23446348
MIRT518165	hsa-miR-3170	PAR-CLIP	23446348
MIRT518164	hsa-miR-6855-5p	PAR-CLIP	23446348
MIRT518163	hsa-miR-5587-5p	PAR-CLIP	23446348
MIRT518162	hsa-miR-5096	PAR-CLIP	23446348
MIRT518174	hsa-miR-6890-5p	PAR-CLIP	23446348
MIRT518173	hsa-miR-3155a	PAR-CLIP	23446348
MIRT518172	hsa-miR-3155b	PAR-CLIP	23446348
MIRT518171	hsa-miR-484	PAR-CLIP	23446348
MIRT518170	hsa-miR-1279	PAR-CLIP	23446348
MIRT518169	hsa-miR-193b-5p	PAR-CLIP	23446348
MIRT518168	hsa-miR-6801-5p	PAR-CLIP	23446348
MIRT518167	hsa-miR-6832-5p	PAR-CLIP	23446348
MIRT518166	hsa-miR-197-3p	PAR-CLIP	23446348
MIRT518165	hsa-miR-3170	PAR-CLIP	23446348
MIRT518164	hsa-miR-6855-5p	PAR-CLIP	23446348
MIRT518163	hsa-miR-5587-5p	PAR-CLIP	23446348
MIRT518162	hsa-miR-5096	PAR-CLIP	23446348
MIRT995121	hsa-miR-122	CLIP-seq
MIRT995122	hsa-miR-1273f	CLIP-seq
MIRT995123	hsa-miR-1289	CLIP-seq
MIRT995124	hsa-miR-129-5p	CLIP-seq
MIRT995125	hsa-miR-1304	CLIP-seq
MIRT995126	hsa-miR-197	CLIP-seq
MIRT995127	hsa-miR-3135b	CLIP-seq
MIRT995128	hsa-miR-3155	CLIP-seq
MIRT995129	hsa-miR-3198	CLIP-seq
MIRT995130	hsa-miR-3199	CLIP-seq
MIRT995131	hsa-miR-3652	CLIP-seq
MIRT995132	hsa-miR-4269	CLIP-seq
MIRT995133	hsa-miR-4294	CLIP-seq
MIRT995134	hsa-miR-4309	CLIP-seq
MIRT995135	hsa-miR-4423-5p	CLIP-seq
MIRT995136	hsa-miR-4430	CLIP-seq
MIRT995137	hsa-miR-4438	CLIP-seq
MIRT995138	hsa-miR-4715-3p	CLIP-seq
MIRT995139	hsa-miR-4722-3p	CLIP-seq
MIRT995140	hsa-miR-4794	CLIP-seq
MIRT995141	hsa-miR-5095	CLIP-seq
MIRT995142	hsa-miR-1267	CLIP-seq
MIRT995143	hsa-miR-150	CLIP-seq
MIRT995126	hsa-miR-197	CLIP-seq
MIRT995144	hsa-miR-203	CLIP-seq
MIRT995145	hsa-miR-3147	CLIP-seq
MIRT995128	hsa-miR-3155	CLIP-seq
MIRT995146	hsa-miR-320a	CLIP-seq
MIRT995147	hsa-miR-320b	CLIP-seq
MIRT995148	hsa-miR-320c	CLIP-seq
MIRT995149	hsa-miR-320d	CLIP-seq
MIRT995150	hsa-miR-3545-3p	CLIP-seq
MIRT995151	hsa-miR-3619-3p	CLIP-seq
MIRT995152	hsa-miR-3654	CLIP-seq
MIRT995153	hsa-miR-3663-5p	CLIP-seq
MIRT995154	hsa-miR-4252	CLIP-seq
MIRT995155	hsa-miR-4425	CLIP-seq
MIRT995156	hsa-miR-4429	CLIP-seq
MIRT995157	hsa-miR-450b-3p	CLIP-seq
MIRT995158	hsa-miR-4635	CLIP-seq
MIRT995159	hsa-miR-4680-5p	CLIP-seq
MIRT995160	hsa-miR-4707-3p	CLIP-seq
MIRT995161	hsa-miR-4742-3p	CLIP-seq
MIRT995162	hsa-miR-4776-5p	CLIP-seq
MIRT995163	hsa-miR-520g	CLIP-seq
MIRT995164	hsa-miR-520h	CLIP-seq
MIRT995165	hsa-miR-653	CLIP-seq
MIRT995166	hsa-miR-769-3p	CLIP-seq
MIRT995122	hsa-miR-1273f	CLIP-seq
MIRT995126	hsa-miR-197	CLIP-seq
MIRT995128	hsa-miR-3155	CLIP-seq
MIRT995150	hsa-miR-3545-3p	CLIP-seq
MIRT995153	hsa-miR-3663-5p	CLIP-seq
MIRT995158	hsa-miR-4635	CLIP-seq
MIRT995159	hsa-miR-4680-5p	CLIP-seq
MIRT995123	hsa-miR-1289	CLIP-seq
MIRT995124	hsa-miR-129-5p	CLIP-seq
MIRT1995077	hsa-miR-1302	CLIP-seq
MIRT995125	hsa-miR-1304	CLIP-seq
MIRT1995078	hsa-miR-1825	CLIP-seq
MIRT1995079	hsa-miR-199a-5p	CLIP-seq
MIRT1995080	hsa-miR-199b-5p	CLIP-seq
MIRT995129	hsa-miR-3198	CLIP-seq
MIRT995130	hsa-miR-3199	CLIP-seq
MIRT1995081	hsa-miR-3925-3p	CLIP-seq
MIRT995132	hsa-miR-4269	CLIP-seq
MIRT995133	hsa-miR-4294	CLIP-seq
MIRT1995082	hsa-miR-4298	CLIP-seq
MIRT995134	hsa-miR-4309	CLIP-seq
MIRT1995083	hsa-miR-432	CLIP-seq
MIRT995137	hsa-miR-4438	CLIP-seq
MIRT1995084	hsa-miR-4648	CLIP-seq
MIRT995138	hsa-miR-4715-3p	CLIP-seq
MIRT995139	hsa-miR-4722-3p	CLIP-seq
MIRT1995085	hsa-miR-4735-5p	CLIP-seq
MIRT1995086	hsa-miR-4775	CLIP-seq
MIRT995140	hsa-miR-4794	CLIP-seq
MIRT995141	hsa-miR-5095	CLIP-seq
MIRT1995087	hsa-miR-590-3p	CLIP-seq
MIRT995122	hsa-miR-1273f	CLIP-seq
MIRT2449652	hsa-miR-3149	CLIP-seq
MIRT2449653	hsa-miR-411	CLIP-seq
MIRT2449654	hsa-miR-4328	CLIP-seq
MIRT995138	hsa-miR-4715-3p	CLIP-seq
MIRT995139	hsa-miR-4722-3p	CLIP-seq
MIRT1995085	hsa-miR-4735-5p	CLIP-seq
MIRT1995086	hsa-miR-4775	CLIP-seq
MIRT995140	hsa-miR-4794	CLIP-seq
MIRT1995087	hsa-miR-590-3p	CLIP-seq
MIRT995122	hsa-miR-1273f	CLIP-seq
MIRT995126	hsa-miR-197	CLIP-seq
MIRT2449652	hsa-miR-3149	CLIP-seq
MIRT2449653	hsa-miR-411	CLIP-seq
MIRT995138	hsa-miR-4715-3p	CLIP-seq
MIRT995139	hsa-miR-4722-3p	CLIP-seq
MIRT1995085	hsa-miR-4735-5p	CLIP-seq
MIRT1995086	hsa-miR-4775	CLIP-seq
MIRT995140	hsa-miR-4794	CLIP-seq
MIRT1995087	hsa-miR-590-3p	CLIP-seq
MIRT995122	hsa-miR-1273f	CLIP-seq
MIRT995126	hsa-miR-197	CLIP-seq
MIRT2449652	hsa-miR-3149	CLIP-seq
MIRT995130	hsa-miR-3199	CLIP-seq
MIRT2449653	hsa-miR-411	CLIP-seq
MIRT995132	hsa-miR-4269	CLIP-seq
MIRT995137	hsa-miR-4438	CLIP-seq
MIRT995138	hsa-miR-4715-3p	CLIP-seq
MIRT995139	hsa-miR-4722-3p	CLIP-seq
MIRT1995085	hsa-miR-4735-5p	CLIP-seq
MIRT1995086	hsa-miR-4775	CLIP-seq
MIRT995140	hsa-miR-4794	CLIP-seq
MIRT995141	hsa-miR-5095	CLIP-seq
MIRT1995087	hsa-miR-590-3p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
FOXM1	Repression	15737987

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002250	Process	Adaptive immune response	IEA
GO:0002376	Process	Immune system process	IEA
GO:0005102	Function	Signaling receptor binding	IDA	10903502
GO:0005102	Function	Signaling receptor binding	IEA
GO:0005198	Function	Structural molecule activity	IDA	8910396
GO:0005201	Function	Extracellular matrix structural constituent	HDA	28344315
GO:0005201	Function	Extracellular matrix structural constituent	RCA	25037231, 28327460, 28675934
GO:0005515	Function	Protein binding	IPI	12706644, 20162731
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	NAS	14718574
GO:0005576	Component	Extracellular region	TAS
GO:0005577	Component	Fibrinogen complex	IDA	6688356, 8910396, 16846481, 18676163
GO:0005577	Component	Fibrinogen complex	IEA
GO:0005615	Component	Extracellular space	HDA	16502470
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	6777381, 19996109
GO:0005615	Component	Extracellular space	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005886	Component	Plasma membrane	TAS
GO:0005938	Component	Cell cortex	IEA
GO:0007160	Process	Cell-matrix adhesion	IBA
GO:0007160	Process	Cell-matrix adhesion	IDA	10903502
GO:0007596	Process	Blood coagulation	IEA
GO:0007599	Process	Hemostasis	IEA
GO:0009897	Component	External side of plasma membrane	IDA	6777381
GO:0009986	Component	Cell surface	IDA	6777381
GO:0030168	Process	Platelet activation	IEA
GO:0031012	Component	Extracellular matrix	HDA	25037231, 28327460, 28344315, 28675934
GO:0031012	Component	Extracellular matrix	IBA
GO:0031091	Component	Platelet alpha granule	IDA	6777381
GO:0031093	Component	Platelet alpha granule lumen	TAS
GO:0031639	Process	Plasminogen activation	IDA	16846481
GO:0034116	Process	Positive regulation of heterotypic cell-cell adhesion	IDA	8100742
GO:0042730	Process	Fibrinolysis	IDA	16846481
GO:0043152	Process	Induction of bacterial agglutination	IDA	24367264
GO:0044320	Process	Cellular response to leptin stimulus	IEA
GO:0045087	Process	Innate immune response	IEA
GO:0045202	Component	Synapse	IEA
GO:0045907	Process	Positive regulation of vasoconstriction	IDA	15739255
GO:0045921	Process	Positive regulation of exocytosis	IDA	19193866
GO:0050714	Process	Positive regulation of protein secretion	IDA	19193866
GO:0050839	Function	Cell adhesion molecule binding	IDA	9182580
GO:0051087	Function	Protein-folding chaperone binding	IPI	19996109
GO:0051258	Process	Protein polymerization	IDA	12706644
GO:0051258	Process	Protein polymerization	IEA
GO:0051592	Process	Response to calcium ion	IDA	6777381
GO:0065003	Process	Protein-containing complex assembly	IDA	8910396
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IDA	10903502, 19193866
GO:0070527	Process	Platelet aggregation	IBA
GO:0070527	Process	Platelet aggregation	IDA	6281794
GO:0071347	Process	Cellular response to interleukin-1	IEA
GO:0072378	Process	Blood coagulation, fibrin clot formation	IBA
GO:0072378	Process	Blood coagulation, fibrin clot formation	IDA	16846481
GO:0072562	Component	Blood microparticle	HDA	22516433
GO:0072562	Component	Blood microparticle	IEA
GO:0090277	Process	Positive regulation of peptide hormone secretion	IDA	19193866
GO:1900026	Process	Positive regulation of substrate adhesion-dependent cell spreading	NAS	24041635
GO:1902042	Process	Negative regulation of extrinsic apoptotic signaling pathway via death domain receptors	IDA	10903502
GO:1903561	Component	Extracellular vesicle	HDA	24769233
GO:2000352	Process	Negative regulation of endothelial cell apoptotic process	IDA	10903502

Other IDs

• MIM: 134830
• HGNC: 3662
• e!Ensembl: ENSG00000171564

Protein

• UniProt ID: P02675
• Protein name: Fibrinogen beta chain [Cleaved into: Fibrinopeptide B; Fibrinogen beta chain]
• Protein function: Cleaved by the protease thrombin to yield monomers which, together with fibrinogen alpha (FGA) and fibrinogen gamma (FGG), polymerize to form an insoluble fibrin matrix. Fibrin has a major function in hemostasis as one of the primary components
• PDB: 1FZA, 1FZB, 1FZC, 1FZE, 1FZF, 1FZG, 1LT9, 1LTJ, 1N86, 1N8E, 1RE3, 1RE4, 1RF0, 1RF1, 2A45, 2FFD, 2H43, 2HLO, 2HOD, 2HPC, 2OYH, 2OYI, 2Q9I, 2XNX, 2XNY, 2Z4E, 3BVH, 3E1I, 3GHG, 3H32, 3HUS, 6ATZ, 6BIJ, 6BIL, 6V0Y, 6V13, 6V15, 6V18, 6V19, 6V1A
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08702	Fib_alpha	91 → 234	Fibrinogen alpha/beta chain family	Coiled-coil
  PF00147	Fibrinogen_C	237 → 487	Fibrinogen beta and gamma chains, C-terminal globular domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Detected in blood plasma (at protein level). {ECO:0000269|PubMed:10074346, ECO:0000269|PubMed:19296670, ECO:0000269|PubMed:9628725}.
• Sequence:

  MKRMVSWSFHKLKTMKHLLLLLLCVFLVKSQGVNDNEEGFFSARGHRPLDKKREEAPSLR
  PAPPPISGGGYRARPAKAAATQKKVERKAPDAGGCLHADPDLGVLCPTGCQLQEALLQQE
  RPIRNSVDELNNNVEAVSQTSSSSFQYMYLLKDLWQKRQKQVKDNENVVNEYSSELEKHQ
  LYIDETVNSNIPTNLRVLRSILENLRSKIQKLESDVSAQMEYCRTPCTVSCNIPVVSGKE
  CEEIIRKGGETSEMYLIQPDSSVKPYRVYCDMNTENGGWTVIQNRQDGSVDFGRKWDPYK
  QGFGNVATNTDGKNYCGLPGEYWLGNDKISQLTRMGPTELLIEMEDWKGDKVKAHYGGFT
  VQNEANKYQISVNKYRGTAGNALMDGASQLMGENRTMTIHNGMFFSTYDRDNDGWLTSDP
  RKQCSKEDGGGWWYNRCHAANPNGRYYWGGQYTWDMAKHGTDDGVVWMNWKGSWYSMRKM
  SMKIRPFFPQQ

• Sequence length: 491

Pathways

KEGG:

Complement and coagulation cascades
Platelet activation
Neutrophil extracellular trap formation
Coronavirus disease - COVID-19

Reactome:

Platelet degranulation
Common Pathway of Fibrin Clot Formation
Integrin cell surface interactions
Integrin signaling
GRB2:SOS provides linkage to MAPK signaling for Integrins
p130Cas linkage to MAPK signaling for integrins
MAP2K and MAPK activation
Regulation of TLR by endogenous ligand
Signaling by moderate kinase activity BRAF mutants
Signaling by high-kinase activity BRAF mutants
Signaling by BRAF and RAF fusions
Paradoxical activation of RAF signaling by kinase inactive BRAF
Signaling downstream of RAS mutants

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
Afibrinogenemia	Likely pathogenic; Pathogenic	rs121909625	RCV002243650	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital afibrinogenemia	Pathogenic; Likely pathogenic	rs121909621, rs121909622, rs606231223, rs606231224, rs121909624, rs121909625, rs1578785111	RCV000017815 RCV000017816 RCV000017818 RCV000017819 RCV000017821 RCV000017822 RCV000984797	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial dysfibrinogenemia	Likely pathogenic; Pathogenic	rs2530775972, rs1578783532, rs111502670	RCV003493346 RCV000984798 RCV001260487	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
FGB-related disorder	Likely pathogenic	rs2530775972, rs2530766247	RCV004747302 RCV003898936	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
FIBRINOGEN CHRISTCHURCH 2	Likely pathogenic	rs121909616	RCV000017804	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypofibrinogenemia	Likely pathogenic; Pathogenic	rs121909616, rs121909625	RCV000852015 RCV000851927	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Abnormal bleeding	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAROTID ARTERY DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC ISCHEMIC HEART DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL FIBRINOGEN DEFICIENCY	—	CTD, ClinGen, Disgenet CTD, ClinGen, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HYPOFIBRINOGENEMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERIOSCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY HEART DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEEP VEIN THROMBOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deep venous thrombosis	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSFIBRINOGENEMIA, CONGENITAL	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL AFIBRINOGENEMIA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL HYPODYSFIBRINOGENEMIA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL HYPOFIBRINOGENEMIA	—	CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FIBRINOGEN BALTIMORE 2	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FIBRINOGEN ISE	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FIBRINOGEN LONGMONT	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FIBRINOGEN NAPLES	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FIBRINOGEN NIJMEGEN	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FIBRINOGEN PONTOISE 2	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FIBRINOGEN, BETA-148 POLYMORPHISM	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FIBRINOGEN-BETA POLYMORPHISM	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE, CHRONIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPOROSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ 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, GenCC Disgenet, GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombus	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Coronary Syndrome	Coronary Syndrome	BEFREE	24203353		★☆☆☆☆ Found in Text Mining only
Adrenal Hyperplasia Congenital	Congenital adrenal hyperplasia	Pubtator	26075496	Associate	★☆☆☆☆ Found in Text Mining only
Afibrinogenemia	Afibrinogenemia	Pubtator	10688828, 10880389, 10891444, 11001902, 12393540, 12511408, 12871501, 13960907, 14629469, 15070682, 15613026, 15632207, 16565503, 17082318, 17650452, 17883696, 21459789, 25038212, 26039544, 27520927, 29240685, 29244742, 29286337, 30418131, 32228225, 32698516, 35054908, 40310436, 7949126, 9332319	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Afibrinogenemia	Afibrinogenemia	BEFREE	10891444, 11354637, 12893758, 17531448, 27824214		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Afibrinogenemia	Afibrinogenemia	Pubtator	11001902, 15848993, 17854317, 31797863, 32584008, 40268443, 447844, 9916133	Inhibit	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Afibrinogenemia	Afibrinogenemia	LHGDN	12393540		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Afibrinogenemia	Afibrinogenemia	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Alzheimer Disease	Alzheimer disease	Pubtator	30007166, 32093517, 32518112, 35695802	Associate	★☆☆☆☆ Found in Text Mining only
Amyloid Neuropathies Familial	Amyloid neuropathy	Pubtator	22053176	Associate	★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	Pubtator	31924745, 8113408	Associate	★☆☆☆☆ Found in Text Mining only
Amyloidosis Familial	Amyloidosis	Pubtator	19073821, 29240685, 8113408, 9389696	Associate	★☆☆☆☆ Found in Text Mining only
Amyloidosis familial visceral	Visceral amyloidosis	Pubtator	9389696	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	32586411, 39278909	Associate	★☆☆☆☆ Found in Text Mining only
Angina Unstable	Angina pectoris	Pubtator	15346842	Associate	★☆☆☆☆ Found in Text Mining only
Angina Unstable	Angina pectoris	Pubtator	20467748	Stimulate	★☆☆☆☆ Found in Text Mining only
Antiphospholipid Syndrome	Antiphospholipid syndrome	Pubtator	18759277	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	20620767, 25384012	Associate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	1347581, 18772067		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	Pubtator	31055797	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	Pubtator	30867536	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	20506214, 26684871, 27906052, 37654483, 39969330	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	27044366	Stimulate	★☆☆☆☆ Found in Text Mining only
Atelosteogenesis type 2	Atelosteogenesis	Pubtator	7949126	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	1347581, 18772067		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	18772067, 19332210, 20025644, 21322770, 22836718, 39227703	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	10910940, 29235504	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	29235504		★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	33142286	Stimulate	★☆☆☆☆ Found in Text Mining only
beta Thalassemia	Beta thalassemia	Pubtator	34559910	Associate	★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood coagulation disorder	Pubtator	16230339, 22407772, 24178511, 24349325, 24759134, 25119470, 26658659, 27553289, 27684817, 29240685, 29518939, 30784176, 31055797, 31948701, 33991637, 36471393, 36507906, 37054625, 38003341	Associate	★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet disorder	Pubtator	12406067, 16045623, 17495120, 20031577, 21526886, 22407772, 2242424, 24203353, 25338090, 2738154, 28934202, 29242293, 29369482, 3165296, 32586411, 3818957, 8652809	Associate	★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet disorder	Pubtator	7592985	Stimulate	★☆☆☆☆ Found in Text Mining only
Blue rubber bleb nevus syndrome	Blue rubber bleb nevus syndrome	Pubtator	39426903	Associate	★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	23028511	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	23958057	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	25654390	Associate	★☆☆☆☆ Found in Text Mining only
Brugada Syndrome	Brugada syndrome	Pubtator	23276942	Associate	★☆☆☆☆ Found in Text Mining only
CADASIL	Cadasil	Pubtator	35695802	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	19596924, 23826206, 30345303, 31578661	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	34512814	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	31393394	Associate	★☆☆☆☆ Found in Text Mining only
Cardioembolic stroke	Cardioembolic Stroke	BEFREE	29235504		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	29540862	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	15737987, 20570858	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	15983960, 16697386, 18278190, 19352213, 20059469, 22836734, 27629735, 30660782, 31300468, 9409270		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular Diseases	Cardiovascular disease	Pubtator	16194201, 18700015, 18818200, 19143925, 19352213, 20025644, 20059469, 20135074, 23036532, 26256740, 31055797, 31075152, 31354890, 32192491, 32492148	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular Diseases	Cardiovascular Diseases	LHGDN	17497226, 18278190		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carotid Artery Diseases	Carotid artery disease	BEFREE	17115186		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carotid Artery Thrombosis	Carotid artery thrombosis	Pubtator	19143925	Associate	★☆☆☆☆ Found in Text Mining only
Carotid Atherosclerosis	Carotid Atherosclerosis	BEFREE	9514419		★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Carotid artery stenosis	Pubtator	18178454	Associate	★☆☆☆☆ Found in Text Mining only
Cat eye syndrome	Cat Eye Syndrome	BEFREE	29235504		★☆☆☆☆ Found in Text Mining only
Cerebral Amyloid Angiopathy	Cerebral amyloid angiopathy	Pubtator	32518112	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Amyloid Angiopathy Familial	Cerebral amyloid angiopathy	Pubtator	32518112	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	12141403, 17637253, 18188987, 25398500, 30503677		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	15608011, 18331453, 19143925, 33367543, 33834859, 34357004, 40310436	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	LHGDN	17637253, 18188987		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	25063764, 31760390	Stimulate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	LHGDN	12637691, 16767673		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	16443328, 19352213, 24090469, 24720800, 24957141, 9102181, 9690809		★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular disorder	Pubtator	32518112	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular Disorders	BEFREE	9409270		★☆☆☆☆ Found in Text Mining only
Cholangitis Sclerosing	Sclerosing cholangitis	Pubtator	36868481	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Disease	Chronic disease	Pubtator	28382370	Associate	★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	19352213		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	29733497, 35503943	Stimulate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	33142286	Associate	★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	26581183, 33142286	Associate	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	34183667	Stimulate	★☆☆☆☆ Found in Text Mining only
Colonic Diseases	Colonic disease	Pubtator	7535283	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	31397080		★☆☆☆☆ Found in Text Mining only
Complement Factor I (C3 inactivator) deficiency	Complement Component Deficiency	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	10691848, 2257302	Associate	★☆☆☆☆ Found in Text Mining only
Congenital hypofibrinogenemia	Congenital afibrinogenemia	BEFREE	10666208, 10891444, 12511408, 12893758, 23740095, 28306188		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital hypofibrinogenemia	Congenital afibrinogenemia	UNIPROT_DG	10666208, 11468164, 15070683, 25427968		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital hypofibrinogenemia	Congenital afibrinogenemia	ORPHANET_DG	11460507, 17295221		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital hypofibrinogenemia	Congenital afibrinogenemia	GENOMICS_ENGLAND_DG	19404555		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital hypofibrinogenemia	Congenital afibrinogenemia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital hypofibrinogenemia	Congenital afibrinogenemia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	31201813		★☆☆☆☆ Found in Text Mining only
Corneal Dystrophy Fleck	Corneal dystrophy	Pubtator	32228225	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	10525668, 10595628, 16525569, 24448059, 8565160, 8689411, 9241743, 9484992, 9514419, 9690809		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	BEFREE	10595628, 11336400, 11530961, 16525569, 16870675, 20167083, 22116284, 24448059, 8565160, 8689411, 8908392, 9241743, 9514419, 9690809		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	Pubtator	12754559	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	Pubtator	14681238, 16881935, 19707286, 20167083, 27553289, 28894953, 32192491, 32525847, 32584014, 37824465	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	LHGDN	18726528		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Disease	Coronary artery disease	Pubtator	11418615, 18700015, 3970784	Stimulate	★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	15121769, 19352213, 21029470, 31075152, 31354890	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	10595628, 16525569, 16870675, 24448059, 8565160, 8689411, 9241743, 9514419, 9690809		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Restenosis	Coronary restenosis	Pubtator	27277665	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Vasospasm	Coronary vasospasm	Pubtator	2768708	Associate	★☆☆☆☆ Found in Text Mining only
Critical Illness	Critical illness	Pubtator	35196304	Inhibit	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	20031577	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	34183667	Stimulate	★☆☆☆☆ Found in Text Mining only
Deafness Autosomal Recessive 1b	Deafness	Pubtator	12406067	Associate	★☆☆☆☆ Found in Text Mining only
Deep Vein Thrombosis	Thrombosis	BEFREE	12406024, 15795538		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dementia Vascular	Vascular dementia	Pubtator	32093517	Associate	★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	34488523	Stimulate	★☆☆☆☆ Found in Text Mining only
Depressive Disorder Major	Major depressive disorder	Pubtator	22447087	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	9833932		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	17969370, 19332210, 25415563, 27929198, 31740441, 32192491	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	21029470, 30256013, 33760664	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	9833932		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	15857159, 17189536, 27929198, 32517350	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	17189536	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	12716802		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	10525668, 15709716, 15857159, 8908392, 9833932		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	9826034	Associate	★☆☆☆☆ Found in Text Mining only
Disseminated Intravascular Coagulation	Disseminated intravascular coagulation	Pubtator	1536954, 34137469, 34428280	Associate	★☆☆☆☆ Found in Text Mining only
Dysfibrinogenemia	Dysfibrinogenemia	BEFREE	27812779		★☆☆☆☆ Found in Text Mining only
Dysfibrinogenemia Congenital	Dysfibrinogenemia	Pubtator	11071644, 11159525, 1391954, 15009465, 16959688, 19420351, 19949684, 22407772, 2496144, 2738154, 27684817, 28948631, 29240685, 30290666, 3345340, 33663356, 33895794, 36401403, 37442158, 37516116, 5564389, 7493975, 8770228	Associate	★☆☆☆☆ Found in Text Mining only
Dysfibrinogenemia, Congenital	Congenital Dysfibrinogenemia	UNIPROT_DG	1634610		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dysfibrinogenemia, Congenital	Congenital Dysfibrinogenemia	GENOMICS_ENGLAND_DG	19404555		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dysfibrinogenemia, Congenital	Congenital Dysfibrinogenemia	BEFREE	22449744		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dysfibrinogenemia, Congenital	Congenital Dysfibrinogenemia	ORPHANET_DG	22955321, 25320241		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dysfibrinogenemia, Congenital	Congenital Dysfibrinogenemia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	37635376	Stimulate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	33082886	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	34044599	Associate	★☆☆☆☆ Found in Text Mining only
Factor VII Deficiency	Factor VII Deficiency	BEFREE	22576285		★☆☆☆☆ Found in Text Mining only
Familial afibrinogenemia	Afibrinogenemia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial dysfibrinogenemia	Dysfibrinogenemia	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial hypodysfibrinogenemia	Hypodysfibrinogenemia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial hypofibrinogenemia	Hypofibrinogenemia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial Mediterranean Fever	Familial mediterranean fever	Pubtator	18408398	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty liver	Pubtator	34082137	Stimulate	★☆☆☆☆ Found in Text Mining only
Fibrinogen Deficiency	Fibrinogen Deficiency	BEFREE	23266225, 24560896, 31259773		★☆☆☆☆ Found in Text Mining only
Fibrinogen Deficiency	Fibrinogen Deficiency	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Fibrinogen Deficiency	Fibrinogen Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fibrinogen Deficiency	Fibrinogen Deficiency	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	Pubtator	35566209	Stimulate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	33694259	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	33694259	Associate	★☆☆☆☆ Found in Text Mining only
Gray Platelet Syndrome	Graves ophthalmopathy	Pubtator	19410025	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	24466284	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	18331966	Associate	★☆☆☆☆ Found in Text Mining only
Hemoglobinuria Paroxysmal	Hemoglobinuria paroxysmal	Pubtator	32311169	Stimulate	★☆☆☆☆ Found in Text Mining only
Hemophilia A	Hemophilia a	Pubtator	17229056	Inhibit	★☆☆☆☆ Found in Text Mining only
Hemophilia A	Hemophilia a	Pubtator	4622105	Associate	★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	10887149, 11159525, 11468164, 1438206, 15632207, 19229055, 20386430, 20570858, 2496144, 29286337, 30145561, 30418131, 31924745, 33186848, 3345340, 33668986, 37940047	Associate	★☆☆☆☆ Found in Text Mining only
Hemorrhagic Disorders	Hemorrhagic disease	Pubtator	30418131	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis Chronic	Hepatitis	Pubtator	25038212	Associate	★☆☆☆☆ Found in Text Mining only
Hepatolenticular Degeneration	Hepatolenticular degeneration	Pubtator	31547461	Stimulate	★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	32235718	Associate	★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia, Familial	Hypercholesterolemia	BEFREE	16776623		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	9833932		★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type IIa	Hyperlipoproteinemia	BEFREE	16776623		★☆☆☆☆ Found in Text Mining only
Hypersensitivity Immediate	Hypersensitivity	Pubtator	2257302, 8049427	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	19332210, 19352213, 20135074, 27553289, 38103737	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	30217946	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	LHGDN	17126309		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	18173921, 20135074		★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Hyperthyroidism	Pubtator	32575434	Associate	★☆☆☆☆ Found in Text Mining only
Hypoalphalipoproteinemias	Hypoalphalipoproteinemia	Pubtator	30418131	Associate	★☆☆☆☆ Found in Text Mining only
Hypodysfibrinogenemia	Hypodysfibrinogenemia	BEFREE	22955321		★☆☆☆☆ Found in Text Mining only
Hypofibrinogenemia	Hypofibrinogenemia	BEFREE	23266225, 24352576, 31259773		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypofibrinogenemia	Hypofibrinogenemia	CLINVAR_DG	31064749		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypofibrinogenemia	Hypofibrinogenemia	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypoglycemia	Hypoglycemia	Pubtator	33760664	Stimulate	★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	38274228	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	17111197		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	25878173	Associate	★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	21959347	Associate	★☆☆☆☆ Found in Text Mining only
Intermittent Claudication	Claudication	Pubtator	12844097, 17826235	Associate	★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial aneurysm	Pubtator	33106390	Associate	★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial aneurysm	Pubtator	35469231	Stimulate	★☆☆☆☆ Found in Text Mining only
Intracranial Embolism	Intracranial embolism	Pubtator	10911375	Associate	★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholestasis of Pregnancy	Intrahepatic cholestasis of pregnancy	Pubtator	34559910	Associate	★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	11940334, 16443328, 16899909, 18278190, 18331453, 18511872, 23650004, 24366241, 24448059, 24720800, 25867317, 25890854, 25981141, 26951304, 27629735, 30503677, 9409270, 9690809		★☆☆☆☆ Found in Text Mining only
Ischemic Stroke	Ischemic stroke	Pubtator	35503943	Stimulate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	17469143, 18408398	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	12969171, 19352213	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	19352213		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Legg-Calve-Perthes Disease	Legg-Calve-Perthes Disease	BEFREE	14629463		★☆☆☆☆ Found in Text Mining only
Legg-Calve-Perthes Disease	Legg-Calve-Perthes Disease	LHGDN	14629463		★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	Pubtator	29565968	Associate	★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis Biliary	Liver cirrhosis	Pubtator	33180817	Associate	★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	16565503, 25038212	Associate	★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	29244742	Inhibit	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	17883696, 31547461	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	33991637	Stimulate	★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	36555850	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	29576497, 29851300, 35341249, 39560968	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	15934123	Stimulate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	30170966	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	17469143		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	LHGDN	17469143		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus nephritis	Pubtator	17469143	Associate	★☆☆☆☆ Found in Text Mining only
Lymphohistiocytosis Hemophagocytic	Hemophagocytic lymphohistiocytosis	Pubtator	27513731, 37653176, 37904401	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	11282562	Associate	★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development	Cortical development malformation	Pubtator	31675181	Stimulate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	29518939		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	1707057, 2447074	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	22447087, 34219465	Associate	★☆☆☆☆ Found in Text Mining only
Migraine with Aura	Migraine	Pubtator	33795393	Associate	★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	BEFREE	11506076, 29264983		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	37822056	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	23692923, 31675181, 34561786	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	37406976, 39969330	Stimulate	★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia gravis	Pubtator	38040826	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	12366606, 12393744, 12406067, 15709716, 17241179, 18772067, 26658659, 32879090, 33228791, 8226773, 9935039	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial Infarction	BEFREE	12514663, 12615788, 15709716, 16870675, 17126309, 18278190, 18982866, 19409601, 26658659, 28685248, 8165611, 8565160, 8689411, 9241743, 9437197, 9649939		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial Infarction	LHGDN	12514663, 15213870, 15583729, 17126309, 18202324, 18772067, 18982866		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial infarction	Pubtator	15670033, 19707286, 20467748	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Ischemia	Myocardial Ischemia	BEFREE	10512427, 10525668, 12141403, 9185528		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Ischemia	Myocardial ischemia	Pubtator	16194201, 2768708	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	36507906	Associate	★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	26684871	Associate	★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	19633201, 39988003	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	33142286	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	10512427, 17582472		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	17582472, 21029470, 21959347, 32214403	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	25914268, 30536591, 30658193, 33668851	Stimulate	★☆☆☆☆ Found in Text Mining only
Obesity Morbid	Obesity	Pubtator	37266430	Stimulate	★☆☆☆☆ Found in Text Mining only
Oculocutaneous albinism type 2	Oculocutaneous albinism	Pubtator	16735602	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	39684216	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	CTD_human_DG	18924182		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis	Osteoporosis	Pubtator	34977236	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis, Age-Related	Osteoporosis	CTD_human_DG	18924182		★☆☆☆☆ Found in Text Mining only
Osteoporosis, Senile	Osteoporosis	CTD_human_DG	18924182		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	23720361	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Hyperstimulation Syndrome	Ovarian hyperstimulation syndrome	Pubtator	28534980	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	33277847	Stimulate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	17012836	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	CTD_human_DG	23233872		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	Pubtator	37939393	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Paroxysmal ventricular fibrillation	Paroxysmal ventricular fibrillation	Pubtator	27759448	Associate	★☆☆☆☆ Found in Text Mining only
Periodontal Diseases	Periodontal Diseases	BEFREE	12710752		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	12710752		★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Disease	Peripheral arterial disease	Pubtator	16443741, 23235487	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Diseases	Vascular Diseases	BEFREE	8565160		★☆☆☆☆ Found in Text Mining only
Peripheral Vascular Diseases	Vascular Diseases	BEFREE	8565160		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	22035022, 28534980	Associate	★☆☆☆☆ Found in Text Mining only
Post-Traumatic Osteoporosis	Osteoporosis	CTD_human_DG	18924182		★☆☆☆☆ Found in Text Mining only
Proteinuria	Proteinuria	Pubtator	18408398	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	Pubtator	20031577	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	19272152, 20500811, 25709430	Stimulate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	22419864, 22701684, 30217946, 33910578, 35534521	Associate	★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	31201813		★☆☆☆☆ Found in Text Mining only
Respiratory Tract Infections	Respiratory system infectious disease	Pubtator	31169138	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	22267327, 28296337		★☆☆☆☆ Found in Text Mining only
Salivary Gland Neoplasms	Salivary gland neoplasms	Pubtator	39201484	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	24743863	Associate	★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	447844	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Apnea Syndromes	Sleep apnea	Pubtator	20508215	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	29518939		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	26662807, 29518939	Associate	★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	11260063, 15608011, 21499712, 24090469, 24957141, 37673933, 39988003, 8226773	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombasthenia	Thrombasthenia	Pubtator	12199799, 12472580, 12941045, 1438206, 1602006, 23995838, 2539213, 40239810, 8049427, 9351872	Associate	★☆☆☆☆ Found in Text Mining only
Thrombocythemia Essential	Essential thrombocythemia	Pubtator	28397442	Stimulate	★☆☆☆☆ Found in Text Mining only
Thrombocythemia Essential	Essential thrombocythemia	Pubtator	31856623	Associate	★☆☆☆☆ Found in Text Mining only
Thrombocytopenia	Thrombocytopenia	Pubtator	27365488, 34137469	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Thrombocytopenia Neonatal Alloimmune	Thrombocytopenia	Pubtator	11830467	Associate	★☆☆☆☆ Found in Text Mining only
Thromboembolism	Thromboembolism	Pubtator	15070682	Associate	★☆☆☆☆ Found in Text Mining only
Thrombophilia	Thrombophilia	BEFREE	12514663		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombophilia	Thrombophilia	Pubtator	1634610, 17650452, 26581183, 37390087, 8473507	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombophilia	Thrombophilia	Pubtator	29308659	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombophilia due to Activated Protein C Resistance	Thrombophilia	Pubtator	15070682	Associate	★☆☆☆☆ Found in Text Mining only
Thrombophilia hereditary	Thrombophilia	Pubtator	1634610	Associate	★☆☆☆☆ Found in Text Mining only
Thrombophlebitis	Thrombophlebitis	Pubtator	40397612	Associate	★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	10910940, 10911375, 14681238, 15709716, 16881935, 17582472, 18665927, 18700015, 19058807, 19698862, 20031577, 20467748, 24758255, 24759134, 27929198, 30418131, 3156856, 31924745, 33367543, 33424834, 33895794, 36131342, 36647888, 37087333, 37940047, 40310436, 7949126, 8473507, 8770228	Associate	★☆☆☆☆ Found in Text Mining only
Tomaculous neuropathy	Hereditary neuropathy with liability to pressure palsies	Pubtator	13960907	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	22159600	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	LHGDN	15217804		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	20031577, 27929198	Associate	★☆☆☆☆ Found in Text Mining only
Vascular System Injuries	Vascular system injury	Pubtator	27929198	Associate	★☆☆☆☆ Found in Text Mining only
Venous Thromboembolism	Venous thromboembolism	Pubtator	10910940, 12752105, 24804362, 26581183, 33367543, 36507737, 37762110	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Venous Thromboembolism	Venous thromboembolism	Pubtator	33834859	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Venous Thrombosis	Venous thrombosis	Pubtator	10910940, 1634610, 17038160, 17582472, 27812779, 29286337, 29851809, 34142473, 34583575	Associate	★☆☆☆☆ Found in Text Mining only
Venous Thrombosis	Venous thrombosis	Pubtator	20096009	Stimulate	★☆☆☆☆ Found in Text Mining only
Venous Thrombosis	Venous thrombosis	Pubtator	20156641	Inhibit	★☆☆☆☆ Found in Text Mining only
Vitamin D Deficiency	Vitamin d deficiency	Pubtator	31347309	Associate	★☆☆☆☆ Found in Text Mining only