FGG (fibrinogen gamma chain)

Gene

• Entrez ID: 2266
• Gene name: Fibrinogen gamma chain
• Gene symbol: FGG
• Synonyms (NCBI Gene): -
• Chromosome: 4
• Chromosome location: 4q32.1
• Summary: The protein encoded by this gene is the gamma 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 ab

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs6063	C>T	Likely-benign, uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs78257946	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs121913087	G>A	Other, pathogenic	Missense variant, coding sequence variant
rs121913088	C>T	Other, pathogenic	Missense variant, coding sequence variant
rs138511699	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant
rs148685782	G>C	Likely-benign, pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs587776837	C>T	Pathogenic, likely-pathogenic	Intron variant
rs587776838	C>T	Pathogenic	Intron variant
rs587776839	T>A	Pathogenic	Intron variant
rs587777720	A>G	Pathogenic	Missense variant, coding sequence variant
rs1310452604	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1414035000	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1553965519	C>T	Pathogenic	Stop gained, coding sequence variant
rs1560833290	C>-,CC	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1578810856	A>T	Pathogenic	Intron variant
rs1578812509	T>A	Pathogenic	Coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT005519	hsa-miR-409-3p	ELISA, Flow, Luciferase reporter assay	20570858
MIRT005521	hsa-miR-29a-3p	ELISA, Flow, Luciferase reporter assay	20570858
MIRT005522	hsa-miR-29b-3p	ELISA, Flow, Luciferase reporter assay	20570858
MIRT005523	hsa-miR-144-3p	ELISA, Flow, Luciferase reporter assay	20570858
MIRT005525	hsa-miR-29c-3p	Luciferase reporter assay	20570858
MIRT005523	hsa-miR-144-3p	Luciferase reporter assay	20570858
MIRT005521	hsa-miR-29a-3p	Luciferase reporter assay	20570858
MIRT005522	hsa-miR-29b-3p	Luciferase reporter assay	20570858
MIRT005525	hsa-miR-29c-3p	Luciferase reporter assay	20570858
MIRT716822	hsa-miR-188-5p	HITS-CLIP	19536157
MIRT716821	hsa-miR-6866-3p	HITS-CLIP	19536157
MIRT716819	hsa-miR-4645-5p	HITS-CLIP	19536157
MIRT716820	hsa-miR-4673	HITS-CLIP	19536157
MIRT716818	hsa-miR-4780	HITS-CLIP	19536157
MIRT716817	hsa-miR-6780b-3p	HITS-CLIP	19536157
MIRT716816	hsa-miR-4786-5p	HITS-CLIP	19536157
MIRT716815	hsa-miR-769-5p	HITS-CLIP	19536157
MIRT716814	hsa-miR-5008-5p	HITS-CLIP	19536157
MIRT716813	hsa-miR-6089	HITS-CLIP	19536157
MIRT716812	hsa-miR-4755-3p	HITS-CLIP	19536157
MIRT716811	hsa-miR-623	HITS-CLIP	19536157
MIRT716810	hsa-miR-3672	HITS-CLIP	19536157
MIRT716809	hsa-miR-6864-3p	HITS-CLIP	19536157
MIRT716808	hsa-miR-6765-5p	HITS-CLIP	19536157
MIRT716807	hsa-miR-1304-5p	HITS-CLIP	19536157
MIRT716822	hsa-miR-188-5p	HITS-CLIP	19536157
MIRT716821	hsa-miR-6866-3p	HITS-CLIP	19536157
MIRT716819	hsa-miR-4645-5p	HITS-CLIP	19536157
MIRT716820	hsa-miR-4673	HITS-CLIP	19536157
MIRT716818	hsa-miR-4780	HITS-CLIP	19536157
MIRT716817	hsa-miR-6780b-3p	HITS-CLIP	19536157
MIRT716816	hsa-miR-4786-5p	HITS-CLIP	19536157
MIRT716815	hsa-miR-769-5p	HITS-CLIP	19536157
MIRT716814	hsa-miR-5008-5p	HITS-CLIP	19536157
MIRT716813	hsa-miR-6089	HITS-CLIP	19536157
MIRT716812	hsa-miR-4755-3p	HITS-CLIP	19536157
MIRT716811	hsa-miR-623	HITS-CLIP	19536157
MIRT716810	hsa-miR-3672	HITS-CLIP	19536157
MIRT716809	hsa-miR-6864-3p	HITS-CLIP	19536157
MIRT716808	hsa-miR-6765-5p	HITS-CLIP	19536157
MIRT716807	hsa-miR-1304-5p	HITS-CLIP	19536157

Transcription factors

Transcription factor	Regulation	Reference
STAT3	Activation	11460505

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005102	Function	Signaling receptor binding	IBA
GO:0005102	Function	Signaling receptor binding	IEA
GO:0005102	Function	Signaling receptor binding	IPI	7822297
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	10788510, 21546586, 26627825
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005577	Component	Fibrinogen complex	IDA	6451630, 8470043, 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
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005886	Component	Plasma membrane	TAS
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:0009306	Process	Protein secretion	IMP	18676163
GO:0009897	Component	External side of plasma membrane	IDA	6777381
GO:0009897	Component	External side of plasma membrane	IEA
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	IEA
GO:0031093	Component	Platelet alpha granule lumen	TAS
GO:0031639	Process	Plasminogen activation	IDA	16846481
GO:0031639	Process	Plasminogen activation	IEA
GO:0034116	Process	Positive regulation of heterotypic cell-cell adhesion	IDA	8100742
GO:0034116	Process	Positive regulation of heterotypic cell-cell adhesion	IEA
GO:0042730	Process	Fibrinolysis	IDA	16846481
GO:0042730	Process	Fibrinolysis	IEA
GO:0045907	Process	Positive regulation of vasoconstriction	IDA	15739255
GO:0045907	Process	Positive regulation of vasoconstriction	IEA
GO:0045921	Process	Positive regulation of exocytosis	IDA	19193866
GO:0046872	Function	Metal ion binding	IEA
GO:0050714	Process	Positive regulation of protein secretion	IDA	19193866
GO:0050714	Process	Positive regulation of protein secretion	IEA
GO:0050839	Function	Cell adhesion molecule binding	IPI	7822297
GO:0051258	Process	Protein polymerization	IEA
GO:0051258	Process	Protein polymerization	IMP	12706644
GO:0051592	Process	Response to calcium ion	IDA	6777381
GO:0051592	Process	Response to calcium ion	IEA
GO:0065003	Process	Protein-containing complex assembly	IDA	8910396
GO:0070062	Component	Extracellular exosome	HDA	19056867, 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:0070527	Process	Platelet aggregation	IEA
GO:0072378	Process	Blood coagulation, fibrin clot formation	IDA	16846481
GO:0072378	Process	Blood coagulation, fibrin clot formation	IEA
GO:0072378	Process	Blood coagulation, fibrin clot formation	IMP	11001902
GO:0072562	Component	Blood microparticle	HDA	22516433
GO:0090277	Process	Positive regulation of peptide hormone secretion	IDA	19193866
GO:0090277	Process	Positive regulation of peptide hormone secretion	IEA
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:1902042	Process	Negative regulation of extrinsic apoptotic signaling pathway via death domain receptors	IEA
GO:2000352	Process	Negative regulation of endothelial cell apoptotic process	IDA	10903502
GO:2000352	Process	Negative regulation of endothelial cell apoptotic process	IEA

Other IDs

• MIM: 134850
• HGNC: 3694
• e!Ensembl: ENSG00000171557

Protein

• UniProt ID: P02679
• Protein name: Fibrinogen gamma chain
• Protein function: Together with fibrinogen alpha (FGA) and fibrinogen beta (FGB), polymerizes to form an insoluble fibrin matrix. Has a major function in hemostasis as one of the primary components of blood clots. In addition, functions during the early stages of
• PDB: 1DUG, 1FIB, 1FIC, 1FID, 1FZA, 1FZB, 1FZC, 1FZE, 1FZF, 1FZG, 1LT9, 1LTJ, 1N86, 1N8E, 1RE3, 1RE4, 1RF0, 1RF1, 2A45, 2FFD, 2FIB, 2H43, 2HLO, 2HOD, 2HPC, 2HWL, 2OYH, 2OYI, 2Q9I, 2VDO, 2VDP, 2VDQ, 2VDR, 2VR3, 2XNX, 2XNY, 2Y7L, 2Z4E, 3BVH, 3E1I, 3FIB, 3GHG, 3H32, 3HUS, 4B60
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08702	Fib_alpha	30 → 172	Fibrinogen alpha/beta chain family	Coiled-coil
  PF00147	Fibrinogen_C	175 → 415	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:

  MSWSLHPRNLILYFYALLFLSSTCVAYVATRDNCCILDERFGSYCPTTCGIADFLSTYQT
  KVDKDLQSLEDILHQVENKTSEVKQLIKAIQLTYNPDESSKPNMIDAATLKSRKMLEEIM
  KYEASILTHDSSIRYLQEIYNSNNQKIVNLKEKVAQLEAQCQEPCKDTVQIHDITGKDCQ
  DIANKGAKQSGLYFIKPLKANQQFLVYCEIDGSGNGWTVFQKRLDGSVDFKKNWIQYKEG
  FGHLSPTGTTEFWLGNEKIHLISTQSAIPYALRVELEDWNGRTSTADYAMFKVGPEADKY
  RLTYAYFAGGDAGDAFDGFDFGDDPSDKFFTSHNGMQFSTWDNDNDKFEGNCAEQDGSGW
  WMNKCHAGHLNGVYYQGGTYSKASTPNGYDNGIIWATWKTRWYSMKKTTMKIIPFNRLTI
  GEGQQHHLGGAKQVRPEHPAETEYDSLYPEDDL

• Sequence length: 453

Pathways

KEGG:

Complement and coagulation cascades
Platelet activation
Neutrophil extracellular trap formation
Staphylococcus aureus infection
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
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
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
Post-translational protein phosphorylation
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
Abnormal bleeding	Pathogenic	rs1578812509	RCV000851634	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Afibrinogenemia	Likely pathogenic; Pathogenic	rs121913087	RCV002243649	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital afibrinogenemia	Pathogenic; Likely pathogenic	rs75848804, rs121913088, rs587776837, rs587776838, rs587776839, rs1553965519, rs1578810856	RCV005412537 RCV005229813 RCV000017798 RCV000017799 RCV000017802 RCV000600509 RCV000984549	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial dysfibrinogenemia	Pathogenic; Likely pathogenic	rs2110850824, rs75848804, rs121913094, rs1553965518, rs121913087, rs121913088, rs121913091, rs2530855793, rs1578812509	RCV001730003 RCV005412537 RCV003444468 RCV003447705 RCV002272022 RCV002225266 RCV001797589 RCV004586097 RCV003987698	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
FGG-related disorder	Likely pathogenic; Pathogenic	rs121913087, rs121913091	RCV004754264 RCV003398534	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
FIBRINOGEN ASAHI	Likely pathogenic; Pathogenic	rs121913091	RCV000017786	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
FIBRINOGEN HAIFA 1	Likely pathogenic; Pathogenic	rs121913088	RCV000017777	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
FIBRINOGEN TOKYO 2	Likely pathogenic; Pathogenic	rs121913087	RCV000017772	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary spastic paraplegia 4	Pathogenic	rs75848804	RCV003314519	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypofibrinogenemia	Likely pathogenic; Pathogenic	rs121913087, rs121913088, rs587776837, rs1414035000	RCV000851951 RCV000851952 RCV000852217 RCV000851919	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BLOOD COAGULATION DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOEMBOLIC STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC THROMBOEMBOLIC PULMONARY HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL FIBRINOGEN DEFICIENCY	—	ClinGen, Disgenet, GWAS catalog ClinGen, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HYPOFIBRINOGENEMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COR PULMONALE	—	GWAS catalog	★★☆☆☆ 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	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FIBRINOGEN BALTIMORE 1	other; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FIBRINOGEN BALTIMORE 3	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FIBRINOGEN GIESSEN 4	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FIBRINOGEN HILLSBOROUGH	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FIBRINOGEN KYOTO 1	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FIBRINOGEN KYOTO 3	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FIBRINOGEN MATSUMOTO 1	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FIBRINOGEN MILANO 1	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fibrinogen Milano XII, digenic	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FIBRINOGEN NAGOYA 1	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FIBRINOGEN OSAKA 5	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FIBRINOGEN PARIS 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FIBRINOGEN VLISSINGEN 1	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemorrhage	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary factor I deficiency disease	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypodysfibrinogenemia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STOMACH NEOPLASMS	—	CTD	★★☆☆☆ 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)
Thromboembolism	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THROMBOPHILIA	—	Disgenet, GWAS catalog, GenCC Disgenet, GWAS catalog, GenCC Disgenet, GWAS catalog, 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
Activated Protein C Resistance	Activated Protein C Resistance	BEFREE	24951429		★☆☆☆☆ Found in Text Mining only
Afibrinogenemia	Afibrinogenemia	Pubtator	10891444, 11001902, 16959688, 17854317, 25038212, 26039544, 27520927, 29240685, 29769041, 32228225, 32698516, 34196169, 40310436	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Afibrinogenemia	Afibrinogenemia	BEFREE	11001902, 11354637		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Afibrinogenemia	Afibrinogenemia	LHGDN	15284111		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Afibrinogenemia	Afibrinogenemia	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amyloidosis Familial	Amyloidosis	Pubtator	29240685	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	39278909	Associate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	17264959, 18772067		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	30770760		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	Pubtator	30770760	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	17403086		★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	32496505	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	17264959, 18772067		★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	29769041	Associate	★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood coagulation disorder	Pubtator	36471393, 36507906	Associate	★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	29769041	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	16980951, 19596924	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	37841237	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	29540862	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	18278190, 20059469, 22836734		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	LHGDN	18278190		★☆☆☆☆ Found in Text Mining only
Carotid Artery Thrombosis	Carotid artery thrombosis	Pubtator	22707612	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	BEFREE	29769041		★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	BEFREE	29769041		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	40310436	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	LHGDN	18239174, 18331453, 18567199, 18690352		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	18690352		★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	23388545	Associate	★☆☆☆☆ Found in Text Mining only
Complement Factor I (C3 inactivator) deficiency	Complement Component Deficiency	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypofibrinogenemia	Congenital afibrinogenemia	BEFREE	10891444, 11354637, 15284111, 17854317		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital hypofibrinogenemia	Congenital afibrinogenemia	ORPHANET_DG	11460507, 17295221, 18676163		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital hypofibrinogenemia	Congenital afibrinogenemia	UNIPROT_DG	25427968		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital hypofibrinogenemia	Congenital afibrinogenemia	GENOMICS_ENGLAND_DG	30349899		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital hypofibrinogenemia	Congenital afibrinogenemia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital hypofibrinogenemia	Congenital afibrinogenemia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	BEFREE	20167083		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	20167083, 26908601	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	28629174		★☆☆☆☆ Found in Text Mining only
Deep Vein Thrombosis	Thrombosis	BEFREE	17403086, 20709368		★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	34488523	Stimulate	★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	Pubtator	30352204	Associate	★☆☆☆☆ Found in Text Mining only
Dysfibrinogenemia	Dysfibrinogenemia	BEFREE	11071644, 18832913, 22576285, 25551304, 27677677, 28318107		★☆☆☆☆ Found in Text Mining only
Dysfibrinogenemia Congenital	Dysfibrinogenemia	Pubtator	19949684, 29240685	Associate	★☆☆☆☆ Found in Text Mining only
Dysfibrinogenemia, Congenital	Congenital Dysfibrinogenemia	ORPHANET_DG	15632207, 25320241		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dysfibrinogenemia, Congenital	Congenital Dysfibrinogenemia	UNIPROT_DG	15632207, 2257302, 2976995, 3708159		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dysfibrinogenemia, Congenital	Congenital Dysfibrinogenemia	BEFREE	25982359		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dysfibrinogenemia, Congenital	Congenital Dysfibrinogenemia	GENOMICS_ENGLAND_DG	30349899		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dysfibrinogenemia, Congenital	Congenital Dysfibrinogenemia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Encephalopathies	Epileptic encephalopathy	BEFREE	29769041		★☆☆☆☆ 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
Fibrinogen Deficiency	Fibrinogen Deficiency	BEFREE	16363237, 16607083, 19551918, 20589319, 23492915, 26039544, 27677677, 28318107, 29769041, 30412834		★☆☆☆☆ Found in Text Mining only
Fibrinogen Deficiency	Fibrinogen Deficiency	CTD_human_DG			★☆☆☆☆ 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
Glomerulonephritis IGA	Iga nephropathy	Pubtator	36941570	Stimulate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	32174066	Associate	★☆☆☆☆ Found in Text Mining only
Hemophilia B	Hemophilia	BEFREE	25982359		★☆☆☆☆ Found in Text Mining only
Hereditary Diffuse Gastric Cancer	Gastric Cancer	CTD_human_DG	19424620		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	32235718, 36077307	Associate	★☆☆☆☆ Found in Text Mining only
Hypodysfibrinogenemia	Hypodysfibrinogenemia	BEFREE	26540127, 27837696, 30632992, 31131962		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypodysfibrinogenemia	Hypodysfibrinogenemia	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypodysfibrinogenemia	Hypodysfibrinogenemia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypofibrinogenemia	Hypofibrinogenemia	BEFREE	16363237, 16607083, 20589319, 23492915, 26039544, 27677677, 28318107, 29769041, 30412834		★★★★☆ 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)
Ischemic stroke	Ischemic Stroke	BEFREE	18278190, 18690352		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	LHGDN	19034331		★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	36033826	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	30863175		★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	32698516	Associate	★☆☆☆☆ Found in Text Mining only
Lymphohistiocytosis Hemophagocytic	Hemophagocytic lymphohistiocytosis	Pubtator	37653176	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	CTD_human_DG	19424620		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	30106150		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30863175		★☆☆☆☆ Found in Text Mining only
Microvascular Angina	Microvascular angina	Pubtator	31484330	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	40483507	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	18202324, 18278190, 20709368		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	LHGDN	18202324		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	18772067	Associate	★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	36507906	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	29769041	Associate	★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	31821791		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	39684216	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	30266682		★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Diseases	Vascular Diseases	BEFREE	20709368		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	23338533		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	17949478		★☆☆☆☆ Found in Text Mining only
Protein C Deficiency	Protein C Deficiency	BEFREE	30632992		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	34764646	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	30106150		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	CTD_human_DG	19424620		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach neoplasms	Pubtator	30106150	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stroke	Stroke	Pubtator	26908601	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombosis	Thrombosis	Pubtator	16144795, 17263791, 22707612, 27999448, 36028558, 40310436	Associate	★☆☆☆☆ Found in Text Mining only
Thrombotic Microangiopathies	Thrombotic Microangiopathies	BEFREE	17038160		★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	33120861	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	LHGDN	15217804		★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	Pubtator	30352204	Associate	★☆☆☆☆ Found in Text Mining only
Venous Thromboembolism	Venous thromboembolism	Pubtator	23150947, 23650146, 25472531, 26565658, 26908601, 28373160, 29094466, 30773804, 31582554, 32671915, 34200207	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	16144795, 17403086, 21980494, 22707612, 30168256, 32342502, 34200207	Associate	★☆☆☆☆ Found in Text Mining only
Venous Thrombosis	Venous thrombosis	Pubtator	20156641	Inhibit	★☆☆☆☆ Found in Text Mining only