FGA (fibrinogen alpha chain)

Gene

• Entrez ID: 2243
• Gene name: Fibrinogen alpha chain
• Gene symbol: FGA
• Synonyms (NCBI Gene): AMYLD2, Fib2
• Chromosome: 4
• Chromosome location: 4q31.3
• Summary: This gene encodes the alpha subunit of the coagulation factor fibrinogen, which is a component of the blood clot. Following vascular injury, the encoded preproprotein is proteolytically processed by thrombin during the conversion of fibrinogen to fibrin.

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs6050	T>A,C	Benign, risk-factor	Coding sequence variant, missense variant
rs78506343	C>A,G,T	Pathogenic	Missense variant, coding sequence variant
rs121909606	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs121909607	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs121909608	T>C	Other, likely-pathogenic	Missense variant, coding sequence variant
rs121909612	T>A	Pathogenic	Missense variant, coding sequence variant
rs140911890	G>A,T	Likely-pathogenic	Synonymous variant, stop gained, coding sequence variant
rs146387238	C>A,G	Pathogenic	Splice donor variant
rs587777761	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs587777762	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs606231225	->A	Pathogenic	Stop gained, coding sequence variant
rs755117226	G>A	Pathogenic	Coding sequence variant, stop gained
rs762964798	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs776817952	G>A,T	Likely-pathogenic	Stop gained, coding sequence variant, synonymous variant
rs1214070111	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1578795296	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1578795880	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1578796476	G>A	Pathogenic	Coding sequence variant, stop gained
rs1578798730	AATTTCCATTA>-	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT005518	hsa-miR-409-3p	ELISA, Flow, Luciferase reporter assay	20570858
MIRT005527	hsa-miR-29c-3p	Luciferase reporter assay	20570858
MIRT005529	hsa-miR-144-3p	Luciferase reporter assay	20570858
MIRT005531	hsa-miR-29a-3p	Luciferase reporter assay	20570858
MIRT005533	hsa-miR-29b-3p	Luciferase reporter assay	20570858
MIRT005527	hsa-miR-29c-3p	Luciferase reporter assay	20570858
MIRT995087	hsa-miR-101	CLIP-seq
MIRT995088	hsa-miR-105	CLIP-seq
MIRT995089	hsa-miR-1261	CLIP-seq
MIRT995090	hsa-miR-1262	CLIP-seq
MIRT995091	hsa-miR-1290	CLIP-seq
MIRT995092	hsa-miR-1293	CLIP-seq
MIRT995093	hsa-miR-1343	CLIP-seq
MIRT995094	hsa-miR-216a	CLIP-seq
MIRT995095	hsa-miR-2467-3p	CLIP-seq
MIRT995096	hsa-miR-29a	CLIP-seq
MIRT995097	hsa-miR-29b	CLIP-seq
MIRT995098	hsa-miR-29c	CLIP-seq
MIRT995099	hsa-miR-3123	CLIP-seq
MIRT995100	hsa-miR-3167	CLIP-seq
MIRT995101	hsa-miR-3667-3p	CLIP-seq
MIRT995102	hsa-miR-3671	CLIP-seq
MIRT995103	hsa-miR-3674	CLIP-seq
MIRT995104	hsa-miR-3678-3p	CLIP-seq
MIRT995105	hsa-miR-3690	CLIP-seq
MIRT995106	hsa-miR-3925-5p	CLIP-seq
MIRT995107	hsa-miR-4254	CLIP-seq
MIRT995108	hsa-miR-4483	CLIP-seq
MIRT995109	hsa-miR-4694-3p	CLIP-seq
MIRT995110	hsa-miR-4701-3p	CLIP-seq
MIRT995111	hsa-miR-4724-3p	CLIP-seq
MIRT995112	hsa-miR-4732-5p	CLIP-seq
MIRT995113	hsa-miR-4747-5p	CLIP-seq
MIRT995114	hsa-miR-4761-5p	CLIP-seq
MIRT995115	hsa-miR-4762-5p	CLIP-seq
MIRT995116	hsa-miR-520d-5p	CLIP-seq
MIRT995117	hsa-miR-524-5p	CLIP-seq
MIRT995118	hsa-miR-548p	CLIP-seq
MIRT995119	hsa-miR-607	CLIP-seq
MIRT995120	hsa-miR-876-5p	CLIP-seq
MIRT995116	hsa-miR-520d-5p	CLIP-seq
MIRT995117	hsa-miR-524-5p	CLIP-seq
MIRT2229152	hsa-miR-1292	CLIP-seq
MIRT2229153	hsa-miR-141	CLIP-seq
MIRT2229154	hsa-miR-200a	CLIP-seq
MIRT2229155	hsa-miR-4471	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
TFCP2	Unknown	10455131

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:0005198	Function	Structural molecule activity	IMP	10891444
GO:0005201	Function	Extracellular matrix structural constituent	HDA	28344315
GO:0005201	Function	Extracellular matrix structural constituent	RCA	25037231, 28675934
GO:0005515	Function	Protein binding	IPI	10954706, 12706644, 22582013, 26091039, 28514442, 32296183, 32814053, 33961781
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	NAS	14718574
GO:0005576	Component	Extracellular region	TAS
GO:0005577	Component	Fibrinogen complex	IBA
GO:0005577	Component	Fibrinogen complex	IDA	8910396, 16846481, 18676163
GO:0005577	Component	Fibrinogen complex	IEA
GO:0005577	Component	Fibrinogen complex	TAS	10467729
GO:0005615	Component	Extracellular space	IDA	6777381
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005886	Component	Plasma membrane	TAS
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:0009897	Component	External side of plasma membrane	IEA
GO:0009986	Component	Cell surface	IDA	6777381
GO:0030168	Process	Platelet activation	IEA
GO:0030674	Function	Protein-macromolecule adaptor activity	IBA
GO:0031012	Component	Extracellular matrix	HDA	25037231, 28344315, 28675934
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	IBA
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	IBA
GO:0042730	Process	Fibrinolysis	IDA	16846481
GO:0042730	Process	Fibrinolysis	IEA
GO:0043152	Process	Induction of bacterial agglutination	IDA	24367264
GO:0045087	Process	Innate immune response	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	IDA	9182580
GO:0051258	Process	Protein polymerization	IDA	12706644
GO:0051258	Process	Protein polymerization	IEA
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:0065003	Process	Protein-containing complex assembly	IMP	18676163
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	HMP	23382103
GO:0070527	Process	Platelet aggregation	IBA
GO:0070527	Process	Platelet aggregation	IDA	6281794
GO:0070527	Process	Platelet aggregation	IEA
GO:0072377	Process	Blood coagulation, common pathway	IBA
GO:0072377	Process	Blood coagulation, common pathway	IMP	10891444, 12706644
GO:0072378	Process	Blood coagulation, fibrin clot formation	IDA	16846481
GO:0072378	Process	Blood coagulation, fibrin clot formation	IEA
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:1903561	Component	Extracellular vesicle	HDA	24769233
GO:2000261	Process	Negative regulation of blood coagulation, common pathway	TAS	11529842
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: 134820
• HGNC: 3661
• e!Ensembl: ENSG00000171560

Protein

• UniProt ID: P02671
• Protein name: Fibrinogen alpha chain [Cleaved into: Fibrinopeptide A; Fibrinogen alpha chain]
• Protein function: Cleaved by the protease thrombin to yield monomers which, together with fibrinogen beta (FGB) and fibrinogen gamma (FGG), polymerize to form an insoluble fibrin matrix. Fibrin has a major function in hemostasis as one of the primary components o
• PDB: 1BBR, 1DM4, 1FPH, 1FZA, 1FZB, 1FZC, 1FZD, 1FZE, 1FZF, 1FZG, 1LT9, 1LTJ, 1N86, 1N8E, 1RE3, 1RE4, 1RF0, 1RF1, 1YCP, 2A45, 2FFD, 2H43, 2HLO, 2HOD, 2HPC, 2OYH, 2OYI, 2Q9I, 2XNX, 2XNY, 2Z4E, 3AT0, 3BVH, 3E1I, 3GHG, 3H32, 3HUS, 4F27, 5CFA
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08702	Fib_alpha	49 → 191	Fibrinogen alpha/beta chain family	Coiled-coil
  PF12160	Fibrinogen_aC	445 → 509	Fibrinogen alpha C domain	Domain
  PF00147	Fibrinogen_C	628 → 863	Fibrinogen beta and gamma chains, C-terminal globular domain	Domain

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

  MFSMRIVCLVLSVVGTAWTADSGEGDFLAEGGGVRGPRVVERHQSACKDSDWPFCSDEDW
  NYKCPSGCRMKGLIDEVNQDFTNRINKLKNSLFEYQKNNKDSHSLTTNIMEILRGDFSSA
  NNRDNTYNRVSEDLRSRIEVLKRKVIEKVQHIQLLQKNVRAQLVDMKRLEVDIDIKIRSC
  RGSCSRALAREVDLKDYEDQQKQLEQVIAKDLLPSRDRQHLPLIKMKPVPDLVPGNFKSQ
  LQKVPPEWKALTDMPQMRMELERPGGNEITRGGSTSYGTGSETESPRNPSSAGSWNSGSS
  GPGSTGNRNPGSSGTGGTATWKPGSSGPGSTGSWNSGSSGTGSTGNQNPGSPRPGSTGTW
  NPGSSERGSAGHWTSESSVSGSTGQWHSESGSFRPDSPGSGNARPNNPDWGTFEEVSGNV
  SPGTRREYHTEKLVTSKGDKELRTGKEKVTSGSTTTTRRSCSKTVTKTVIGPDGHKEVTK
  EVVTSEDGSDCPEAMDLGTLSGIGTLDGFRHRHPDEAAFFDTASTGKTFPGFFSPMLGEF
  VSETESRGSESGIFTNTKESSSHHPGIAEFPSRGKSSSYSKQFTSSTSYNRGDSTFESKS
  YKMADEAGSEADHEGTHSTKRGHAKSRPVRDCDDVLQTHPSGTQSGIFNIKLPGSSKIFS
  VYCDQETSLGGWLLIQQRMDGSLNFNRTWQDYKRGFGSLNDEGEGEFWLGNDYLHLLTQR
  GSVLRVELEDWAGNEAYAEYHFRVGSEAEGYALQVSSYEGTAGDALIEGSVEEGAEYTSH
  NNMQFSTFDRDADQWEENCAEVYGGGWWYNNCQAANLNGIYYPGGSYDPRNNSPYEIENG
  VVWVSFRGADYSLRAVRMKIRPLVTQ

• Sequence length: 866

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
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
Amyloid fiber formation

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	rs121909607	RCV000851971	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Afibrinogenemia	Likely pathogenic; Pathogenic	rs1299596156	RCV002245493	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital afibrinogenemia	Pathogenic; Likely pathogenic	rs2110806028, rs778779380, rs1299596156, rs763715993, rs2530823524, rs2530820376, rs121909607, rs121909612, rs121909613, rs146387238, rs606231225, rs755117226, rs776817952, rs762964798, rs140911890, rs1578796476	RCV001420405 RCV002506823 RCV005032194 RCV005225596 RCV004785730 RCV005036830 RCV002476987 RCV002490381 RCV002490382 RCV000017877 RCV000017879 RCV000454272 RCV002500996 RCV005029421 RCV002487602 RCV000984799	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital factor V deficiency	Likely pathogenic; Pathogenic	rs773619297	RCV005860257	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Deep venous thrombosis	Likely pathogenic	rs121909613	RCV002222001	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dysfibrinogenemia	Likely pathogenic; Pathogenic	rs121909606, rs121909607	RCV000017825 RCV000030941	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial dysfibrinogenemia	Likely pathogenic; Pathogenic	rs778779380, rs773619297, rs1299596156, rs763715993, rs745804153, rs2530819182, rs2530820376, rs121909606, rs121909607, rs121909612, rs121909613, rs146387238, rs755117226, rs776817952, rs762964798, rs140911890, rs1184440187	RCV002506823 RCV005868356 RCV005032194 RCV002266520 RCV002283365 RCV003313877 RCV005036830 RCV003330394 RCV002228034 RCV002490381 RCV002490382 RCV004700245 RCV002502594 RCV002500996 RCV002067219 RCV002487602 RCV005418812	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial hypodysfibrinogenemia	Pathogenic	rs146387238	RCV000030942	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial visceral amyloidosis, Ostertag type	Likely pathogenic; Pathogenic	rs778779380, rs773619297, rs1302701490, rs1299596156, rs2530823524, rs2530820376, rs121909607, rs587777761, rs121909612, rs121909613, rs587777762, rs146387238, rs755117226, rs776817952, rs762964798, rs140911890	RCV002506823 RCV006249766 RCV001808895 RCV005032194 RCV002466823 RCV005036830 RCV002476987 RCV000017870 RCV000017871 RCV002490382 RCV000017875 RCV002496394 RCV002502594 RCV002500996 RCV005029421 RCV002487602	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
FGA-related disorder	Pathogenic; Likely pathogenic	rs2530820233, rs2530822869, rs2530830192, rs121909606, rs121909608, rs121909607, rs762964798, rs140911890	RCV004528651 RCV004531662 RCV004534409 RCV004532378 RCV004734521 RCV004532379 RCV004735797 RCV000779434	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
FIBRINOGEN AARHUS 1	Likely pathogenic	rs121909608	RCV000017843	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
FIBRINOGEN CANTERBURY	Pathogenic	rs121909614	RCV000017874	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
FIBRINOGEN DETROIT 1	Likely pathogenic	rs1403508334	RCV000017842	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
FIBRINOGEN DUSART	Likely pathogenic	rs121909613	RCV000017872	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypofibrinogenemia	Likely pathogenic; Pathogenic	rs121909608, rs121909607, rs146387238, rs1578795296, rs1214070111, rs776817952, rs762964798, rs121909606	RCV000851993 RCV000851581 RCV000851811 RCV000852035 RCV000851912 RCV000852248 RCV000852003 RCV000851972 RCV000851968	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AFib amyloidosis	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
AMYLOIDOSIS, FAMILIAL	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYLOIDOSIS, FAMILIAL VISCERAL	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYLOIDOSIS, HEREDITARY SYSTEMIC 2	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBROVASCULAR ACCIDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLESTASIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC THROMBOEMBOLIC PULMONARY HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL FIBRINOGEN DEFICIENCY	—	ClinGen, ClinVar, Disgenet ClinGen, ClinVar, Disgenet	★★☆☆☆ 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
DEEP VEIN THROMBOSIS	—	Disgenet	★★☆☆☆ 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 HYPOFIBRINOGENEMIA	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL VISCERAL AMYLOIDOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FIBRINOGEN CARACAS 2	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FIBRINOGEN KEOKUK	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FIBRINOGEN KYOTO 2	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FIBRINOGEN LILLE 1	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FIBRINOGEN MARBURG	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FIBRINOGEN MUNICH 1	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FIBRINOGEN NIEUWEGEIN	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FIBRINOGEN ROUEN 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOUTH NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPOROSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	CTD, GWAS catalog CTD, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombocytopenia	Benign; Likely benign	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
THROMBOPHILIA	—	CTD, Disgenet, GenCC CTD, Disgenet, GenCC CTD, Disgenet, GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THROMBOSIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Venous thromboembolism, susceptibility to	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Cerebrovascular Accidents	Stroke	CTD_human_DG	29531354		★☆☆☆☆ Found in Text Mining only
Acute schizophrenia	Schizophrenia	BEFREE	28109665		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	31776635		★☆☆☆☆ Found in Text Mining only
AFib amyloidosis	Fibrinogen A Alpha-Chain Amyloidosis	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Afibrinogenemia	Afibrinogenemia	CTD_human_DG	10602365, 10891444, 12358944, 1391954		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Afibrinogenemia	Afibrinogenemia	Pubtator	10891444, 17854317, 25163824, 26139837, 26676819, 29240685, 32228225, 9916133	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Afibrinogenemia	Afibrinogenemia	BEFREE	11238133, 17295221, 17531448		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Afibrinogenemia	Afibrinogenemia	LHGDN	17295221		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Alzheimer Disease	Alzheimer disease	Pubtator	40471493	Associate	★☆☆☆☆ Found in Text Mining only
Amyloid nephropathy	Amyloid Nephropathy	BEFREE	31443619, 8097946, 8944230		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	10825402, 31443619		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	LHGDN	16468976, 18500534		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	Pubtator	29455155	Associate	★☆☆☆☆ Found in Text Mining only
Amyloidosis Familial	Amyloidosis	Pubtator	29240685, 29455155	Associate	★☆☆☆☆ Found in Text Mining only
Amyloidosis, Familial	Amyloidosis	BEFREE	8097946		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyloidosis, Familial	Amyloidosis	CTD_human_DG	8097946, 8639778		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyloidosis, familial visceral	Amyloidosis	GENOMICS_ENGLAND_DG	23551149, 25427968, 8097946		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyloidosis, familial visceral	Amyloidosis	UNIPROT_DG	8097946		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyloidosis, familial visceral	Amyloidosis	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyloidosis, familial visceral	Amyloidosis	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	39278909	Associate	★☆☆☆☆ Found in Text Mining only
Antiphospholipid Syndrome	Antiphospholipid Syndrome	BEFREE	27555433		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	17264959		★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	28431948		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	35757752	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	17264959		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	24192574, 29754444		★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood coagulation disorder	Pubtator	36471393, 36507906	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	20557135		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	25789864	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	29913241		★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	37839873, 37841237, 39354528, 40179422	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	29413753		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	29540862	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	18278190, 22836734		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	LHGDN	18278190		★☆☆☆☆ Found in Text Mining only
Cerebral Hemorrhage	Cerebral hemorrhage	Pubtator	33186848	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	18331453, 19143925	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	22476643		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	LHGDN	18331453, 18690352		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebrovascular accident	Stroke	BEFREE	18690352		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebrovascular accident	Stroke	CTD_human_DG	29531354		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebrovascular Disorders	Cerebrovascular Disorders	LHGDN	17849175		★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	CTD_human_DG	20974703		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis	Cholestasis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cognitive Dysfunction	Cognition disorder	Pubtator	26581183	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Polyps	Colonic polyps	Pubtator	30361067	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	21766496, 28938643, 31179189		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	30361067	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	10602365, 11460507, 15795544, 17083511, 20051841, 20806111, 21245743, 22732251, 31725541		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital hypofibrinogenemia	Congenital afibrinogenemia	CTD_human_DG	10602365, 10891444, 12358944, 1391954		★★☆☆☆ 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	GENOMICS_ENGLAND_DG	25427968		★★☆☆☆ 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	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Corneal Dystrophy Fleck	Corneal dystrophy	Pubtator	32228225	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	20167083, 26908601, 33299376	Associate	★☆☆☆☆ Found in Text Mining only
Craniocerebral Trauma	Craniocerebral trauma	Pubtator	36813871	Associate	★☆☆☆☆ Found in Text Mining only
Deep Vein Thrombosis	Thrombosis	BEFREE	26982741		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Disseminated Intravascular Coagulation	Disseminated intravascular coagulation	Pubtator	36813871	Associate	★☆☆☆☆ Found in Text Mining only
Dysfibrinogenemia	Dysfibrinogenemia	BEFREE	24048413, 26581183, 27555433		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dysfibrinogenemia	Dysfibrinogenemia	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dysfibrinogenemia Congenital	Dysfibrinogenemia	Pubtator	26581183, 29240685, 30290666, 32228225	Associate	★☆☆☆☆ Found in Text Mining only
Dysfibrinogenemia, Congenital	Congenital Dysfibrinogenemia	ORPHANET_DG	14615374, 25320241		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dysfibrinogenemia, Congenital	Congenital Dysfibrinogenemia	UNIPROT_DG	16846481, 8473507		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dysfibrinogenemia, Congenital	Congenital Dysfibrinogenemia	GENOMICS_ENGLAND_DG	25427968		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dysfibrinogenemia, Congenital	Congenital Dysfibrinogenemia	BEFREE	27684817, 30290666		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dysfibrinogenemia, Congenital	Congenital Dysfibrinogenemia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometriosis	Endometriosis	BEFREE	24937656, 31740226		★☆☆☆☆ 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			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial hypofibrinogenemia	Hypofibrinogenemia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fibrinogen Deficiency	Fibrinogen Deficiency	CTD_human_DG	10602365, 10891444, 12358944, 1391954		★☆☆☆☆ Found in Text Mining only
Fibrinogen Deficiency	Fibrinogen Deficiency	BEFREE	17295221, 20051841		★☆☆☆☆ Found in Text Mining only
Fibrinogen Deficiency	Fibrinogen Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fibrinogen Deficiency	Fibrinogen Deficiency	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Graft vs Host Disease	Graft-versus-host disease	Pubtator	34269649	Associate	★☆☆☆☆ Found in Text Mining only
Granulomatosis with Polyangiitis	Granulomatosis with polyangiitis	Pubtator	35757752	Stimulate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	32174066	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	25789864	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Factor V Deficiency	Hereditary Factor V Deficiency	LHGDN	11914657		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	27553289	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	19190816		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypodysfibrinogenemia	Hypodysfibrinogenemia	BEFREE	20806111		★☆☆☆☆ Found in Text Mining only
Hypodysfibrinogenemia, Congenital	Congenital Hypodysfibrinogenemia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hypofibrinogenemia	Hypofibrinogenemia	BEFREE	17295221		★★★★★ 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)
Hypothyroidism	Hypothyroidism	Pubtator	29301248	Associate	★☆☆☆☆ Found in Text Mining only
Intracranial Thrombosis	Intracranial thrombosis	Pubtator	37175682	Associate	★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	18331453, 27266621, 31314131		★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	Pubtator	24194634	Inhibit	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	CTD_human_DG	8097946, 8639778		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Diseases	Kidney Disease	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	33284559	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	16698114		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	37839873	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	20557135		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	29913241		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	29913241		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	CTD_human_DG	16239339		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	29719494, 30106150, 31179189		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	10825402		★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth Neoplasms	CTD_human_DG	16239339		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Myeloma	Multiple myeloma	BEFREE	30651846		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	LHGDN	18202324, 18772067		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	18278190, 19143925		★☆☆☆☆ 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
Nephrotic Syndrome	Nephrotic Syndrome	BEFREE	16382323		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	19196496		★☆☆☆☆ 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, Age-Related	Osteoporosis	CTD_human_DG	18924182		★☆☆☆☆ Found in Text Mining only
Osteoporosis, Senile	Osteoporosis	CTD_human_DG	18924182		★☆☆☆☆ Found in Text Mining only
Pemphigus	Pemphigus	Pubtator	39593117	Associate	★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	24192574		★☆☆☆☆ Found in Text Mining only
Post-Traumatic Osteoporosis	Osteoporosis	CTD_human_DG	18924182		★☆☆☆☆ Found in Text Mining only
Primary amyloidosis	Amyloidosis	BEFREE	10825402		★☆☆☆☆ Found in Text Mining only
Pulmonary Thromboembolisms	Pulmonary thromboembolism	CTD_human_DG	10910940		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	28203040		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	31253657	Stimulate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of mouth	Oral cavity carcinoma	BEFREE	31253657		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	29719494, 30106150, 31179189		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	30106150, 36842141	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	33788653	Inhibit	★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	26908601	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thromboembolism	Thromboembolism	Pubtator	19515723	Associate	★☆☆☆☆ Found in Text Mining only
Thrombophilia	Thrombophilia	Pubtator	26139837, 26581183	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombophilia	Thrombophilia	CTD_human_DG	8473507		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombophilia	Thrombophilia	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombosis	Thrombosis	Pubtator	32299226, 36028558, 36813871	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	30625128	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	LHGDN	15217804		★☆☆☆☆ Found in Text Mining only
Venous Thromboembolism	Venous thromboembolism	Pubtator	26581183, 26908601	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	22353194, 26982741, 30168256	Associate	★☆☆☆☆ Found in Text Mining only