F13A1 (coagulation factor XIII A chain)

Gene

• Entrez ID: 2162
• Gene name: Coagulation factor XIII A chain
• Gene symbol: F13A1
• Synonyms (NCBI Gene): F13A
• Chromosome: 6
• Chromosome location: 6p25.1
• Summary: This gene encodes the coagulation factor XIII A subunit. Coagulation factor XIII is the last zymogen to become activated in the blood coagulation cascade. Plasma factor XIII is a heterotetramer composed of 2 A subunits and 2 B subunits. The A subunits hav

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs2815822	T>A,C,G	Pathogenic, benign	Intron variant
rs121913064	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs121913065	G>A	Pathogenic	Stop gained, coding sequence variant
rs121913066	G>A,T	Pathogenic	Stop gained, coding sequence variant, synonymous variant
rs121913067	G>A,C,T	Pathogenic	Missense variant, coding sequence variant, synonymous variant
rs121913068	C>T	Pathogenic	Missense variant, coding sequence variant
rs121913069	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs121913070	C>A	Pathogenic	Missense variant, coding sequence variant
rs121913072	C>T	Pathogenic	Missense variant, coding sequence variant
rs121913073	C>A	Pathogenic	Missense variant, coding sequence variant
rs121913074	T>C	Pathogenic	Missense variant, coding sequence variant
rs267606787	G>A	Pathogenic	Coding sequence variant, missense variant
rs267606788	A>G	Pathogenic	Coding sequence variant, missense variant
rs267606789	G>A	Pathogenic	Coding sequence variant, stop gained
rs372296352	C>T	Pathogenic	Splice acceptor variant
rs768024997	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs778181928	G>A,C	Likely-pathogenic	Missense variant, synonymous variant, coding sequence variant
rs1416626948	TTCT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1561645895	AT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1561673120	C>A	Pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT974286	hsa-miR-105	CLIP-seq
MIRT974287	hsa-miR-1200	CLIP-seq
MIRT974288	hsa-miR-1260	CLIP-seq
MIRT974289	hsa-miR-1260b	CLIP-seq
MIRT974290	hsa-miR-1273f	CLIP-seq
MIRT974291	hsa-miR-1276	CLIP-seq
MIRT974292	hsa-miR-143	CLIP-seq
MIRT974293	hsa-miR-188-3p	CLIP-seq
MIRT974294	hsa-miR-203	CLIP-seq
MIRT974295	hsa-miR-299-3p	CLIP-seq
MIRT974296	hsa-miR-3129-3p	CLIP-seq
MIRT974297	hsa-miR-3156-3p	CLIP-seq
MIRT974298	hsa-miR-412	CLIP-seq
MIRT974299	hsa-miR-4307	CLIP-seq
MIRT974300	hsa-miR-4311	CLIP-seq
MIRT974301	hsa-miR-4324	CLIP-seq
MIRT974302	hsa-miR-4422	CLIP-seq
MIRT974303	hsa-miR-4428	CLIP-seq
MIRT974304	hsa-miR-4491	CLIP-seq
MIRT974305	hsa-miR-4637	CLIP-seq
MIRT974306	hsa-miR-4648	CLIP-seq
MIRT974307	hsa-miR-4654	CLIP-seq
MIRT974308	hsa-miR-4657	CLIP-seq
MIRT974309	hsa-miR-4719	CLIP-seq
MIRT974310	hsa-miR-4744	CLIP-seq
MIRT974311	hsa-miR-4769-5p	CLIP-seq
MIRT974312	hsa-miR-4770	CLIP-seq
MIRT974313	hsa-miR-544b	CLIP-seq
MIRT974314	hsa-miR-577	CLIP-seq
MIRT974315	hsa-miR-583	CLIP-seq
MIRT974286	hsa-miR-105	CLIP-seq
MIRT1988660	hsa-miR-128	CLIP-seq
MIRT1988661	hsa-miR-182	CLIP-seq
MIRT1988662	hsa-miR-192	CLIP-seq
MIRT1988663	hsa-miR-215	CLIP-seq
MIRT1988664	hsa-miR-25	CLIP-seq
MIRT1988665	hsa-miR-27a	CLIP-seq
MIRT1988666	hsa-miR-27b	CLIP-seq
MIRT1988667	hsa-miR-32	CLIP-seq
MIRT1988668	hsa-miR-324-5p	CLIP-seq
MIRT1988669	hsa-miR-363	CLIP-seq
MIRT1988670	hsa-miR-367	CLIP-seq
MIRT1988671	hsa-miR-4470	CLIP-seq
MIRT1988672	hsa-miR-4677-3p	CLIP-seq
MIRT974309	hsa-miR-4719	CLIP-seq
MIRT1988673	hsa-miR-92a	CLIP-seq
MIRT1988674	hsa-miR-92b	CLIP-seq
MIRT1988675	hsa-miR-934	CLIP-seq
MIRT974286	hsa-miR-105	CLIP-seq
MIRT1988661	hsa-miR-182	CLIP-seq
MIRT1988671	hsa-miR-4470	CLIP-seq
MIRT1988672	hsa-miR-4677-3p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
ETS1	Unknown	10037697
GATA1	Unknown	10037697

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003810	Function	Protein-glutamine gamma-glutamyltransferase activity	IBA
GO:0003810	Function	Protein-glutamine gamma-glutamyltransferase activity	IDA	27363989
GO:0003810	Function	Protein-glutamine gamma-glutamyltransferase activity	IEA
GO:0003810	Function	Protein-glutamine gamma-glutamyltransferase activity	TAS	2877456
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS	2877457
GO:0005615	Component	Extracellular space	NAS	12524220
GO:0005737	Component	Cytoplasm	IEA
GO:0007596	Process	Blood coagulation	IEA
GO:0007596	Process	Blood coagulation	IEA
GO:0007596	Process	Blood coagulation	TAS	10801785
GO:0007599	Process	Hemostasis	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016746	Function	Acyltransferase activity	IEA
GO:0018149	Process	Peptide cross-linking	IDA	27363989
GO:0031012	Component	Extracellular matrix	HDA	25037231, 28344315, 28675934
GO:0031093	Component	Platelet alpha granule lumen	TAS
GO:0046872	Function	Metal ion binding	IEA
GO:0072378	Process	Blood coagulation, fibrin clot formation	IBA
GO:0072378	Process	Blood coagulation, fibrin clot formation	IDA	27363989
GO:0072378	Process	Blood coagulation, fibrin clot formation	IEA
GO:0072562	Component	Blood microparticle	HDA	22516433
GO:1990234	Component	Transferase complex	NAS	27363989

Other IDs

• MIM: 134570
• HGNC: 3531
• e!Ensembl: ENSG00000124491

Protein

• UniProt ID: P00488
• Protein name: Coagulation factor XIII A chain (Coagulation factor XIIIa) (EC 2.3.2.13) (Protein-glutamine gamma-glutamyltransferase A chain) (Transglutaminase A chain)
• Protein function: Factor XIII is activated by thrombin and calcium ion to a transglutaminase that catalyzes the formation of gamma-glutamyl-epsilon-lysine cross-links between fibrin chains, thus stabilizing the fibrin clot. Also cross-link alpha-2-plasmin inhibit
• PDB: 1EVU, 1EX0, 1F13, 1FIE, 1GGT, 1GGU, 1GGY, 1QRK, 4KTY, 5MHL, 5MHM, 5MHN, 5MHO, 8CMT, 8CMU
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00868	Transglut_N	45 → 165	Transglutaminase family	Domain
  PF01841	Transglut_core	284 → 398	Transglutaminase-like superfamily	Family
  PF00927	Transglut_C	519 → 623	Transglutaminase family, C-terminal ig like domain	Domain
  PF00927	Transglut_C	631 → 728	Transglutaminase family, C-terminal ig like domain	Domain

• Sequence:

  MSETSRTAFGGRRAVPPNNSNAAEDDLPTVELQGVVPRGVNLQEFLNVTSVHLFKERWDT
  NKVDHHTDKYENNKLIVRRGQSFYVQIDFSRPYDPRRDLFRVEYVIGRYPQENKGTYIPV
  PIVSELQSGKWGAKIVMREDRSVRLSIQSSPKCIVGKFRMYVAVWTPYGVLRTSRNPETD
  TYILFNPWCEDDAVYLDNEKEREEYVLNDIGVIFYGEVNDIKTRSWSYGQFEDGILDTCL
  YVMDRAQMDLSGRGNPIKVSRVGSAMVNAKDDEGVLVGSWDNIYAYGVPPSAWTGSVDIL
  LEYRSSENPVRYGQCWVFAGVFNTFLRCLGIPARIVTNYFSAHDNDANLQMDIFLEEDGN
  VNSKLTKDSVWNYHCWNEAWMTRPDLPVGFGGWQAVDSTPQENSDGMYRCGPASVQAIKH
  GHVCFQFDAPFVFAEVNSDLIYITAKKDGTHVVENVDATHIGKLIVTKQIGGDGMMDITD
  TYKFQEGQEEERLALETALMYGAKKPLNTEGVMKSRSNVDMDFEVENAVLGKDFKLSITF
  RNNSHNRYTITAYLSANITFYTGVPKAEFKKETFDVTLEPLSFKKEAVLIQAGEYMGQLL
  EQASLHFFVTARINETRDVLAKQKSTVLTIPEIIIKVRGTQVVGSDMTVTVQFTNPLKET
  LRNVWVHLDGPGVTRPMKKMFREIRPNSTVQWEEVCRPWVSGHRKLIASMSSDSLRHVYG
  ELDVQIQRRPSM

• Sequence length: 732

Pathways

KEGG:

Complement and coagulation cascades
Coronavirus disease - COVID-19

Reactome:

Platelet degranulation
Common Pathway of Fibrin Clot Formation
Interleukin-4 and Interleukin-13 signaling

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
F13A1-related disorder	Pathogenic; Likely pathogenic	rs1479557022, rs760818476, rs372296352, rs267606789, rs774669729	RCV003410898 RCV003901095 RCV004755742 RCV003415716 RCV003894441	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Factor XIII, A subunit, deficiency of	Pathogenic; Likely pathogenic	rs1760997136, rs2113123881, rs2480618246, rs2480490515, rs1757202231, rs1176119481, rs2480385304, rs2480651992, rs760818476, rs2113184331, rs121913064, rs121913065, rs121913066, rs121913067, rs121913069, rs121913070, rs121913071, rs121913072, rs121913073, rs121913074, rs1290008988, rs372296352, rs267606787, rs267606789, rs267606788, rs2480618478, rs1416626948, rs2815822, rs1561645895, rs1561641262, rs757172838, rs778181928, rs1757581465, rs763797788	RCV001783234 RCV002052271 RCV003126312 RCV003145090 RCV003313841 RCV003313846 RCV003313884 RCV003333888 RCV003484579 RCV000017987 RCV000017988 RCV000017989 RCV000017990 RCV000017991 RCV000017993 RCV000017994 RCV000017995 RCV000017998 RCV000017999 RCV000018000 RCV000018001 RCV000018002 RCV000018003 RCV000018004 RCV000018005 RCV003890759 RCV005042081 RCV000022542 RCV000714480 RCV000754780 RCV000852055 RCV000851910 RCV001420448 RCV003388121	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Gastric cancer	Pathogenic	rs121913069	RCV005887536	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary factor XIII deficiency disease	Pathogenic	rs1561673120	RCV000785755	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myocardial infarction, susceptibility to	Pathogenic	rs1416626948	RCV005042081	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonpapillary renal cell carcinoma	Likely pathogenic; Pathogenic	rs372296352	RCV005887537	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thrombophilia due to thrombin defect	Pathogenic	rs1416626948	RCV005042081	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Abnormal bleeding	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTERIOSCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD ONSET ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL FACTOR XIII DEFICIENCY	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DERMATITIS, ALLERGIC CONTACT	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISSEMINATED INTRAVASCULAR COAGULATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FACTOR XIII DEFICIENCY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial infarction, protection against	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombocytopenia	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
THROMBOPHILIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOSIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Venous thrombosis, protection against	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	8634442		★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	GWASDB_DG	21116278		★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	GWASCAT_DG	26830138		★☆☆☆☆ Found in Text Mining only
Angina Unstable	Angina pectoris	Pubtator	25693916	Inhibit	★☆☆☆☆ Found in Text Mining only
Angina Unstable	Angina pectoris	Pubtator	25693916	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	25384012	Associate	★☆☆☆☆ Found in Text Mining only
Arterial Occlusive Diseases	Arterial occlusive disease	Pubtator	10627467	Associate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	11834540, 15507206		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	8838494	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	24934276		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	Pubtator	24934276, 26525229	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Astrocytoma	Astrocytoma	Pubtator	1675869	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	BEFREE	1928103		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	11834540, 15507206		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	9710118	Associate	★☆☆☆☆ Found in Text Mining only
AURAL ATRESIA, CONGENITAL	Aural Atresia, Congenital	BEFREE	30409906		★☆☆☆☆ Found in Text Mining only
Bathing suit ichthyosis	Ichthyosis	BEFREE	16968736		★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood coagulation disorder	Pubtator	21829388, 36944974, 37180121, 4977030	Associate	★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood Coagulation Disorders	BEFREE	9414279		★☆☆☆☆ Found in Text Mining only
Brain Infarction	Brain infarction	Pubtator	10627467	Associate	★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Brain ischemia	Pubtator	19826759	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	40264151	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	12654631		★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	34177903	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	17515963	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	33167412, 35126952	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	27629735		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	30223472, 30320542	Associate	★☆☆☆☆ Found in Text Mining only
Cartilage Diseases	Cartilage disease	Pubtator	11438463	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Hemorrhage	Cerebral hemorrhage	Pubtator	11391716, 11961312, 17488662	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	11841441, 18006701, 29769590, 34357004	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	LHGDN	11692020, 17927806		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	30223472		★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular disorder	Pubtator	11391716, 11841441, 12542492	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular Disorders	BEFREE	11841441		★☆☆☆☆ Found in Text Mining only
Choroidal Neovascularization	Choroidal neovascularization	Pubtator	26307969	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Disease	Chronic disease	Pubtator	16950433	Associate	★☆☆☆☆ Found in Text Mining only
Cleft Lip	Cleft lip	Pubtator	8411074	Associate	★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	8099257	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	29657559		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	10816592	Associate	★☆☆☆☆ Found in Text Mining only
Congenital factor XIII deficiency	Congenital Factor XIII Deficiency	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	11834540, 11941274		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	11834540, 11941274		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	LHGDN	11941274, 12878486, 17597187		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	Pubtator	16501286, 16881935, 20211923, 21800001, 24510702, 32525847	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Disease	Coronary artery disease	Pubtator	11391716	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	11834540, 11941274		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	LHGDN	16911684		★☆☆☆☆ Found in Text Mining only
Cutaneous Fibrous Histiocytoma	Fibrous Histiocytoma	BEFREE	28609344, 30893190		★☆☆☆☆ Found in Text Mining only
Deep Vein Thrombosis	Thrombosis	CTD_human_DG	10365735		★☆☆☆☆ Found in Text Mining only
Deep Vein Thrombosis	Thrombosis	BEFREE	11941274		★☆☆☆☆ Found in Text Mining only
Deep Vein Thrombosis	Thrombosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic	Atopic dermatitis	Pubtator	2576222	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis, Allergic Contact	Dermatitis	CTD_human_DG	17374397		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dermatofibrosarcoma Protuberans	Dermatofibrosarcoma Protuberans	BEFREE	28609344		★☆☆☆☆ Found in Text Mining only
Disseminated Intravascular Coagulation	Disseminated Intravascular Coagulation	LHGDN	16642548		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dysfibrinogenemia, Congenital	Congenital Dysfibrinogenemia	BEFREE	11841441		★☆☆☆☆ Found in Text Mining only
Factor XIII B Subunit Deficiency Of	Factor xiii deficiency	Pubtator	1353995, 8025280, 8547636, 9414279	Associate	★☆☆☆☆ Found in Text Mining only
Factor XIII Deficiency	Factor xiii deficiency	Pubtator	15456491, 20179087, 22923741, 27879471, 29307277, 30404926, 31340840, 31914974, 32883222, 8025280, 8547636, 9414279, 9531593	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Factor XIII Deficiency	Factor xiii deficiency	Pubtator	1644910	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Factor XIII Deficiency	Factor xiii deficiency	Pubtator	22923741, 34506591	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fibrosis, Liver	Liver Fibrosis	BEFREE	30415489		★☆☆☆☆ Found in Text Mining only
Giant Cell Fibroblastoma	Giant Cell Fibroblastoma	BEFREE	28609344		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	34180136	Associate	★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	1675869	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	17515963, 30223472	Associate	★☆☆☆☆ Found in Text Mining only
Hematoma	Hematoma	Pubtator	34857025	Associate	★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	11342420, 31013569, 34857025, 37832789	Associate	★☆☆☆☆ Found in Text Mining only
Hemorrhagic Disorders	Hemorrhagic disease	Pubtator	32311817, 32883222	Associate	★☆☆☆☆ Found in Text Mining only
Hemorrhagic Stroke	Hemorrhagic stroke	Pubtator	10627467, 30404926	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Factor XIII Deficiency	Hereditary Factor XIII Deficiency	BEFREE	12801297, 16330458, 16456856, 16543965, 20179087, 25004025, 30935919, 31340840		★☆☆☆☆ Found in Text Mining only
Hereditary Factor XIII Deficiency	Hereditary Factor XIII Deficiency	LHGDN	16330458, 16456856		★☆☆☆☆ Found in Text Mining only
Hereditary Factor XIII Deficiency	Hereditary Factor XIII Deficiency	CTD_human_DG	1644910		★☆☆☆☆ Found in Text Mining only
Hereditary Factor XIII Deficiency	Hereditary Factor XIII Deficiency	ORPHANET_DG	21738029		★☆☆☆☆ Found in Text Mining only
Hereditary Factor XIII Deficiency	Hereditary Factor XIII Deficiency	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hereditary Factor XIII Deficiency	Hereditary Factor XIII Deficiency	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Hereditary pancreatitis	Hereditary Pancreatitis	BEFREE	15668900		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	11738472		★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	33167412	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic generalized epilepsy	Epilepsy	BEFREE	1574178		★☆☆☆☆ Found in Text Mining only
Idiopathic Inflammatory Myopathies	Inflammatory Myopathy	BEFREE	14631123		★☆☆☆☆ Found in Text Mining only
Intracranial Hemorrhages	Intracranial hemorrhage	Pubtator	30404926, 9920839	Associate	★☆☆☆☆ Found in Text Mining only
Intracranial Thrombosis	Intracranial thrombosis	Pubtator	37175682	Associate	★☆☆☆☆ Found in Text Mining only
Ischemic Attack Transient	Transient ischemic attack	Pubtator	11391716	Associate	★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	11841441, 18006701, 27629735		★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	1676036, 7692824		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	22434605, 28523449	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	22434605	Associate	★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	17515963	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lymphedema	Lymphedema	Pubtator	11841441	Associate	★☆☆☆☆ Found in Text Mining only
Lymphohistiocytosis Hemophagocytic	Hemophagocytic lymphohistiocytosis	Pubtator	38183241	Associate	★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	26307969	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	12654631		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	23555315, 8645175		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	GWASDB_DG	23555315		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29777108		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	15668900		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	36596079	Stimulate	★☆☆☆☆ Found in Text Mining only
Mycosis Fungoides	Mycosis fungoides	Pubtator	1281618	Associate	★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	10627467, 11391716, 11841441, 12456499, 12480694, 12542492, 15629368, 16501286, 17515963, 20211923, 21800001, 24510702, 30223472, 40305362, 9920839	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial Infarction	BEFREE	11841441, 12456499, 12515735, 16525568, 17241179, 17515963, 30972713		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial Infarction	LHGDN	12456499, 17296595, 17515963		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial Infarction	CTD_human_DG	17393027		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopia Degenerative	Myopia	Pubtator	26307969	Associate	★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	34462518	Associate	★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyp	Pubtator	23541322	Stimulate	★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyp	Pubtator	36361742	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	28873247, 31350263, 31578366		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	17582472, 20532202, 33167412	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	22565190, 27759118		★☆☆☆☆ Found in Text Mining only
Orofacial Cleft 1	Orofacial cleft	Pubtator	8099257	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	11438463	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis Knee	Osteoarthritis	Pubtator	11438463	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Diseases	Vascular Diseases	BEFREE	11941274		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	22565190		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	LHGDN	18000871		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	23555315, 8645175		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	1676036		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	Pubtator	2576222	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	26525229	Stimulate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	37180121	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary fibrosis	Pubtator	1707417	Associate	★☆☆☆☆ Found in Text Mining only
Retinopathy of Prematurity	Retinopathy of prematurity	Pubtator	2312834	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	BEFREE	10527395		★☆☆☆☆ Found in Text Mining only
Sebaceous Adenocarcinoma	Sebaceous Adenocarcinoma	BEFREE	29087003		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	27302551		★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	1675869	Associate	★☆☆☆☆ Found in Text Mining only
Spontaneous hematomas	Hematomas	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	34979665	Associate	★☆☆☆☆ Found in Text Mining only
Thromboembolism	Thromboembolism	Pubtator	27976734	Stimulate	★☆☆☆☆ Found in Text Mining only
Thromboembolism	Thromboembolism	Pubtator	27976734	Associate	★☆☆☆☆ Found in Text Mining only
Thrombophilia	Thrombophilia	BEFREE	31187948		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombophilia	Thrombophilia	Pubtator	31914974	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombophilia	Thrombophilia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombosis	Thrombosis	Pubtator	10910940, 11342420, 11841441, 12358922, 17582472, 17895511, 19572074, 20010469, 20211923, 21800001, 26307969, 34234378	Associate	★☆☆☆☆ Found in Text Mining only
Thrombosis of cerebral veins	Thrombosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tomaculous neuropathy	Hereditary neuropathy with liability to pressure palsies	Pubtator	1644910, 20179087, 9920838	Associate	★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous sclerosis complex	Pubtator	1675869	Associate	★☆☆☆☆ Found in Text Mining only
Uranostaphyloschisis	Uranostaphyloschisis	BEFREE	1574178		★☆☆☆☆ Found in Text Mining only
Urticaria	Urticaria	Pubtator	23781752	Associate	★☆☆☆☆ Found in Text Mining only
Venous Insufficiency	Venous Insufficiency	LHGDN	16950433		★☆☆☆☆ Found in Text Mining only
Venous Thromboembolism	Venous thromboembolism	Pubtator	11091190, 12542492, 17433418, 19552680, 25341889, 40105557, 9920839	Associate	★☆☆☆☆ Found in Text Mining only
Venous Thromboembolism	Venous thromboembolism	Pubtator	19552680	Stimulate	★☆☆☆☆ Found in Text Mining only
Venous Thrombosis	Venous thrombosis	Pubtator	10627467, 11391716, 12358922, 16241947, 16501286, 17582472, 20010469, 25973747, 31989767, 40105557, 9920839	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations