F11 (coagulation factor XI)

Gene

• Entrez ID: 2160
• Gene name: Coagulation factor XI
• Gene symbol: F11
• Synonyms (NCBI Gene): FXI, PTA
• Chromosome: 4
• Chromosome location: 4q35.2
• Summary: This gene encodes coagulation factor XI of the blood coagulation cascade. This protein is present in plasma as a zymogen, which is a unique plasma coagulation enzyme because it exists as a homodimer consisting of two identical polypeptide chains linked by

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28934608	C>T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant, genic downstream transcript variant
rs121965063	G>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs121965064	T>C	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, non coding transcript variant, intron variant
rs121965066	C>A	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs121965067	C>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, 3 prime UTR variant, downstream transcript variant, non coding transcript variant
rs121965068	C>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, downstream transcript variant, non coding transcript variant
rs121965069	T>C	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs121965070	A>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs121965071	G>A,C,T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, downstream transcript variant, non coding transcript variant
rs143648758	C>A	Likely-pathogenic, pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs281875244	C>A,G,T	Not-provided, likely-pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs281875245	G>A,T	Not-provided, likely-pathogenic	Genic downstream transcript variant, intron variant, non coding transcript variant, coding sequence variant, missense variant
rs281875257	G>A	Not-provided, likely-pathogenic	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs281875266	G>A,T	Not-provided, likely-pathogenic	3 prime UTR variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs281875272	A>G	Conflicting-interpretations-of-pathogenicity, not-provided	Coding sequence variant, non coding transcript variant, missense variant
rs369650561	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs375440170	T>C	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant, genic downstream transcript variant
rs533335580	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, 3 prime UTR variant, genic downstream transcript variant, missense variant
rs538083600	C>T	Pathogenic-likely-pathogenic	Coding sequence variant, downstream transcript variant, non coding transcript variant, stop gained, genic downstream transcript variant
rs747702749	C>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained, non coding transcript variant, intron variant
rs752907087	C>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained, non coding transcript variant, intron variant
rs753909969	G>A	Pathogenic	Missense variant, genic downstream transcript variant, downstream transcript variant, coding sequence variant, non coding transcript variant
rs754087775	C>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained, non coding transcript variant, intron variant
rs755700350	G>T	Likely-pathogenic	Missense variant, non coding transcript variant, initiator codon variant
rs756908183	C>T	Pathogenic-likely-pathogenic, pathogenic, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, stop gained
rs757817254	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant, genic downstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs762013077	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant, stop gained, non coding transcript variant
rs763496524	C>T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant, genic downstream transcript variant
rs767727775	T>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs768409400	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs768474112	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs770505620	C>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained, non coding transcript variant
rs771896253	C>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant, non coding transcript variant, 3 prime UTR variant
rs773905328	C>A,T	Pathogenic-likely-pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant, synonymous variant, non coding transcript variant
rs779802284	G>A	Pathogenic-likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, downstream transcript variant, missense variant
rs786204429	A>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant
rs786204449	TG>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant
rs786204722	G>-	Likely-pathogenic	Non coding transcript variant, intron variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs933333847	A>G	Likely-pathogenic	Genic downstream transcript variant, intron variant
rs1024865708	A>C,G	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant, splice acceptor variant, synonymous variant, genic downstream transcript variant
rs1057516431	AC>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, frameshift variant
rs1057516616	CATT>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1057516695	A>G	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant, intron variant
rs1057516738	G>A	Likely-pathogenic	Splice donor variant
rs1057517116	CGCGCAGCTTGT>-	Likely-pathogenic	Coding sequence variant, splice acceptor variant, non coding transcript variant, intron variant, genic downstream transcript variant
rs1057517151	G>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1057517364	G>A	Pathogenic	Splice acceptor variant
rs1057517446	CTCA>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, downstream transcript variant, frameshift variant, genic downstream transcript variant
rs1173748968	G>A,C	Pathogenic	Intron variant, 3 prime UTR variant
rs1220869989	T>C	Pathogenic-likely-pathogenic	Splice donor variant, intron variant, genic downstream transcript variant
rs1262002209	C>T	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant, intron variant
rs1316806485	G>A,C	Likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, splice donor variant
rs1340928778	C>A,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs1349655563	G>C	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1439195599	GTTG>-	Likely-pathogenic, pathogenic	Intron variant, genic downstream transcript variant, 3 prime UTR variant
rs1459304265	TCGACA>-	Likely-pathogenic	Inframe deletion, non coding transcript variant, intron variant, genic downstream transcript variant, coding sequence variant
rs1554081281	T>A	Likely-pathogenic	Non coding transcript variant, missense variant, initiator codon variant
rs1554081288	C>T	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1554081886	->A	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1554082832	C>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant
rs1554082938	T>-,TT	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant
rs1580075457	T>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1580090765	T>C	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs1580098946	->GATATTA	Pathogenic	Downstream transcript variant, non coding transcript variant, frameshift variant, genic downstream transcript variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT974028	hsa-miR-15a	CLIP-seq
MIRT974029	hsa-miR-15b	CLIP-seq
MIRT974030	hsa-miR-16	CLIP-seq
MIRT974031	hsa-miR-195	CLIP-seq
MIRT974032	hsa-miR-424	CLIP-seq
MIRT974033	hsa-miR-4327	CLIP-seq
MIRT974034	hsa-miR-4514	CLIP-seq
MIRT974035	hsa-miR-4692	CLIP-seq
MIRT974036	hsa-miR-497	CLIP-seq
MIRT974037	hsa-miR-507	CLIP-seq
MIRT974038	hsa-miR-511	CLIP-seq
MIRT974039	hsa-miR-557	CLIP-seq
MIRT974040	hsa-miR-577	CLIP-seq
MIRT974041	hsa-miR-628-5p	CLIP-seq
MIRT974042	hsa-miR-646	CLIP-seq
MIRT1988582	hsa-miR-128	CLIP-seq
MIRT1988583	hsa-miR-2117	CLIP-seq
MIRT1988584	hsa-miR-375	CLIP-seq
MIRT1988585	hsa-miR-4273	CLIP-seq
MIRT1988586	hsa-miR-4279	CLIP-seq
MIRT1988587	hsa-miR-4659a-3p	CLIP-seq
MIRT1988588	hsa-miR-4659b-3p	CLIP-seq
MIRT1988589	hsa-miR-4677-5p	CLIP-seq
MIRT974038	hsa-miR-511	CLIP-seq
MIRT2223027	hsa-miR-299-3p	CLIP-seq
MIRT2223028	hsa-miR-3671	CLIP-seq
MIRT2223029	hsa-miR-4491	CLIP-seq
MIRT2223030	hsa-miR-4504	CLIP-seq
MIRT2223031	hsa-miR-4657	CLIP-seq
MIRT2223032	hsa-miR-607	CLIP-seq
MIRT1988583	hsa-miR-2117	CLIP-seq
MIRT1988584	hsa-miR-375	CLIP-seq
MIRT1988585	hsa-miR-4273	CLIP-seq
MIRT1988586	hsa-miR-4279	CLIP-seq
MIRT1988587	hsa-miR-4659a-3p	CLIP-seq
MIRT1988588	hsa-miR-4659b-3p	CLIP-seq
MIRT1988589	hsa-miR-4677-5p	CLIP-seq
MIRT974038	hsa-miR-511	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004252	Function	Serine-type endopeptidase activity	IEA
GO:0004252	Function	Serine-type endopeptidase activity	NAS	9593722
GO:0004252	Function	Serine-type endopeptidase activity	TAS	10823824
GO:0005515	Function	Protein binding	IPI	2844223, 15545266
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	NAS	9593722
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	89876
GO:0005615	Component	Extracellular space	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006508	Process	Proteolysis	IEA
GO:0007596	Process	Blood coagulation	IDA	9169594
GO:0007596	Process	Blood coagulation	IEA
GO:0007596	Process	Blood coagulation	NAS	9593722
GO:0007596	Process	Blood coagulation	TAS	10823824
GO:0007599	Process	Hemostasis	IEA
GO:0008201	Function	Heparin binding	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008236	Function	Serine-type peptidase activity	IBA
GO:0008236	Function	Serine-type peptidase activity	IEA
GO:0016020	Component	Membrane	NAS	9593722
GO:0016787	Function	Hydrolase activity	IEA
GO:0030193	Process	Regulation of blood coagulation	IEA
GO:0031639	Process	Plasminogen activation	IBA
GO:0031639	Process	Plasminogen activation	IDA	89876
GO:0031639	Process	Plasminogen activation	IEA
GO:0042802	Function	Identical protein binding	IPI	16699514, 17884987
GO:0051919	Process	Positive regulation of fibrinolysis	IBA
GO:0051919	Process	Positive regulation of fibrinolysis	IDA	89876
GO:0051919	Process	Positive regulation of fibrinolysis	IEA
GO:0070009	Function	Serine-type aminopeptidase activity	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867

Other IDs

• MIM: 264900
• HGNC: 3529
• e!Ensembl: ENSG00000088926

Protein

• UniProt ID: P03951
• Protein name: Coagulation factor XI (FXI) (EC 3.4.21.27) (Plasma thromboplastin antecedent) (PTA) [Cleaved into: Coagulation factor XIa heavy chain; Coagulation factor XIa light chain]
• Protein function: Factor XI triggers the middle phase of the intrinsic pathway of blood coagulation by activating factor IX.
• PDB: 1XX9, 1XXD, 1XXF, 1ZHM, 1ZHP, 1ZHR, 1ZJD, 1ZLR, 1ZMJ, 1ZML, 1ZMN, 1ZOM, 1ZPB, 1ZPC, 1ZPZ, 1ZRK, 1ZSJ, 1ZSK, 1ZSL, 1ZTJ, 1ZTK, 1ZTL, 2FDA, 2J8J, 2J8L, 3BG8, 3SOR, 3SOS, 4CR5, 4CR9, 4CRA, 4CRB, 4CRC, 4CRD, 4CRE, 4CRF, 4CRG, 4D76, 4D7F, 4D7G, 4NA7, 4NA8, 4TY6, 4TY7, 4WXI, 4X6M, 4X6N, 4X6O, 4X6P, 4Y8X, 4Y8Y
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00024	PAN_1	20 → 103	PAN domain	Domain
  PF00024	PAN_1	110 → 193	PAN domain	Domain
  PF00024	PAN_1	200 → 283	PAN domain	Domain
  PF00024	PAN_1	291 → 374	PAN domain	Domain
  PF00089	Trypsin	388 → 618	Trypsin	Domain

• Tissue specificity: TISSUE SPECIFICITY: Isoform 2 is produced by platelets and megakaryocytes but absent from other blood cells.
• Sequence:

  MIFLYQVVHFILFTSVSGECVTQLLKDTCFEGGDITTVFTPSAKYCQVVCTYHPRCLLFT
  FTAESPSEDPTRWFTCVLKDSVTETLPRVNRTAAISGYSFKQCSHQISACNKDIYVDLDM
  KGINYNSSVAKSAQECQERCTDDVHCHFFTYATRQFPSLEHRNICLLKHTQTGTPTRITK
  LDKVVSGFSLKSCALSNLACIRDIFPNTVFADSNIDSVMAPDAFVCGRICTHHPGCLFFT
  FFSQEWPKESQRNLCLLKTSESGLPSTRIKKSKALSGFSLQSCRHSIPVFCHSSFYHDTD
  FLGEELDIVAAKSHEACQKLCTNAVRCQFFTYTPAQASCNEGKGKCYLKLSSNGSPTKIL
  HGRGGISGYTLRLCKMDNECTTKIKPRIVGGTASVRGEWPWQVTLHTTSPTQRHLCGGSI
  IGNQWILTAAHCFYGVESPKILRVYSGILNQSEIKEDTSFFGVQEIIIHDQYKMAESGYD
  IALLKLETTVNYTDSQRPICLPSKGDRNVIYTDCWVTGWGYRKLRDKIQNTLQKAKIPLV
  TNEECQKRYRGHKITHKMICAGYREGGKDACKGDSGGPLSCKHNEVWHLVGITSWGEGCA
  QRERPGVYTNVVEYVDWILEKTQAV

• Sequence length: 625

Pathways

KEGG:

Complement and coagulation cascades

Reactome:

Intrinsic Pathway of Fibrin Clot 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	Likely pathogenic; Pathogenic	rs756908183, rs143648758, rs201007090, rs121965063	RCV000851775 RCV000851782 RCV000851708 RCV001270535	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Clear cell carcinoma of kidney	Pathogenic	rs373297713	RCV005887467	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Coagulation factor deficiency syndrome	Likely pathogenic; Pathogenic	rs281875266	RCV000851583	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
F11-related disorder	Pathogenic; Likely pathogenic	rs140190776, rs786204429, rs786204724, rs375422404, rs121965063, rs121965064, rs941166157, rs2477435655, rs1220869989	RCV003898366 RCV003416050 RCV003947448 RCV003409399 RCV003914828 RCV003407319 RCV003402336 RCV003416705 RCV003392509	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Factor XI	Pathogenic	rs121965064	RCV001258090	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Factor XI deficiency	Likely pathogenic; Pathogenic	rs121965069	RCV005249987	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary factor XI deficiency disease	Likely pathogenic; Pathogenic	rs777714867, rs768894507, rs779123395, rs764711007, rs2477208862, rs2477246721, rs2477405583, rs2477280161, rs1280101266, rs2477206578, rs2477228328, rs2477278563, rs2477149062, rs2477406435, rs2477277265, rs1740702281, rs1739959023, rs2477327654, rs768409400, rs768474112, rs756908183, rs143648758, rs752907087, rs747702749, rs754087775, rs786204722, rs786204449, rs786204429, rs773905328, rs771896253, rs786204724, rs201007090, rs139695003, rs2477280470, rs760612112, rs375422404, rs373297713, rs121965063, rs121965064, rs1024865708, rs1173748968, rs121965065, rs121965066, rs28934608, rs28934609, rs121965069, rs121965071, rs121965072, rs542967227, rs1389121348, rs140190776, rs2477280960, rs2477404743, rs753909969, rs1741388544, rs1004775935, rs2126731736, rs2477325641, rs2477335764, rs748926718, rs1580110270, rs757530565, rs199657604, rs2477404278, rs1057516616, rs1057516738, rs762013077, rs1057517151, rs1057517364, rs1057516695, rs1057517116, rs1057516431, rs1057517446, rs779802284, rs1057517204, rs1057517035, rs1057516506, rs1057516777, rs1057517171, rs145906668, rs281875251, rs533335580, rs770505620, rs755700350, rs1554081281, rs1554081288, rs1554082938, rs1439195599, rs1554084031, rs1554081886, rs1554082832, rs1340928778, rs1554082932, rs1220869989, rs1554083727, rs754109115, rs281875250, rs538083600, rs1554083734, rs1554083754, rs1459304265, rs1349655563, rs1316806485, rs901732635, rs1554083736, rs1554083753, rs1554083758, rs200622588, rs1580075457, rs767727775, rs1262002209, rs375440170, rs1580090765, rs1580098946, rs281875266, rs281875272, rs281875245, rs281875265, rs281875257, rs281875269, rs774280710, rs1741002305	RCV002280909 RCV004526165 RCV002222147 RCV002245402 RCV002306474 RCV002309575 RCV002309611 RCV002309660 RCV002309750 RCV002308018 RCV002308099 RCV002309057 RCV002309334 RCV002307019 RCV002307348 RCV002310083 RCV002310269 RCV002310472 RCV000169536 RCV000169144 RCV000169273 RCV000169275 RCV000169125 RCV000169501 RCV000169287 RCV000169545 RCV000169073 RCV000169028 RCV000169527 RCV000169077 RCV000169556 RCV000169241 RCV000169580 RCV003145073 RCV003145080 RCV000763125 RCV000012665 RCV000012666 RCV000012667 RCV000012668 RCV000012669 RCV000012670 RCV000012671 RCV000012673 RCV000012675 RCV000012676 RCV000012678 RCV000012679 RCV000352684 RCV003313864 RCV003313891 RCV003331918 RCV003337778 RCV000851679 RCV003404811 RCV003405127 RCV003447676 RCV005871191 RCV005419653 RCV005419654 RCV005063050 RCV000387557 RCV003990659 RCV004574885 RCV000411987 RCV000409767 RCV000409418 RCV000409581 RCV000409991 RCV000409802 RCV000411048 RCV000410660 RCV000411516 RCV000411689 RCV000410824 RCV000410709 RCV000412477 RCV000409880 RCV000411882 RCV000411281 RCV000411308 RCV000851667 RCV000763124 RCV002497250 RCV000668218 RCV000666100 RCV000664796 RCV000671916 RCV000666958 RCV000665098 RCV000665461 RCV000668586 RCV000671578 RCV000665214 RCV000670636 RCV000668236 RCV000665462 RCV000668664 RCV000668701 RCV000670354 RCV000668149 RCV000666697 RCV000674279 RCV000673837 RCV000670861 RCV000665450 RCV000667125 RCV000674398 RCV000672255 RCV000671819 RCV000851639 RCV000851646 RCV000852200 RCV000851662 RCV000851663 RCV003141837 RCV002222013 RCV000454166 RCV000671144 RCV000667740 RCV000852186 RCV000670643 RCV000852252 RCV003447485 RCV001095694 RCV003479308	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nonpapillary renal cell carcinoma	Pathogenic	rs768474112	RCV005889645	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Plasma factor XI deficiency	Likely pathogenic; Pathogenic	rs1349655563, rs140190776, rs768474112, rs756908183, rs786204429, rs201007090, rs375422404, rs373297713, rs121965063, rs121965064, rs121965066, rs121965069, rs542967227, rs757530565, rs1057517116, rs533335580, rs770505620, rs1439195599, rs281875243	RCV001826146 RCV001826169 RCV001831987 RCV001273716 RCV001831986 RCV001835701 RCV001273725 RCV001831565 RCV001273717 RCV001273722 RCV001826459 RCV001273715 RCV001828215 RCV001835782 RCV005614405 RCV001273723 RCV001273720 RCV001829873 RCV005614379	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thrombocytopenia	Pathogenic	rs121965063	RCV001270535	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CHRONIC THROMBOEMBOLIC PULMONARY HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL FACTOR XI DEFICIENCY	—	ClinGen, Orphanet ClinGen, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COR PULMONALE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTRACRANIAL THROMBOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THROMBOPHILIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations