F9 (coagulation factor IX)

Gene

• Entrez ID: 2158
• Gene name: Coagulation factor IX
• Gene symbol: F9
• Synonyms (NCBI Gene): F9 p22, FIX, HEMB, P19, PTC, THPH8
• Chromosome: X
• Chromosome location: Xq27.1
• Summary: This gene encodes vitamin K-dependent coagulation factor IX that circulates in the blood as an inactive zymogen. This factor is converted to an active form by factor XIa, which excises the activation peptide and thus generates a heavy chain and a light ch

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1801202	C>T	Benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs137852223	C>G,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs137852224	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs137852226	A>T	Pathogenic	Coding sequence variant, missense variant
rs137852227	C>T	Pathogenic	Coding sequence variant, stop gained
rs137852228	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs137852229	A>C	Pathogenic	Coding sequence variant, missense variant
rs137852230	A>G	Pathogenic	Coding sequence variant, intron variant, missense variant
rs137852231	A>C	Pathogenic	Coding sequence variant, intron variant, missense variant
rs137852232	C>G	Pathogenic	Coding sequence variant, intron variant, missense variant
rs137852233	G>A	Pathogenic	Coding sequence variant, intron variant, missense variant
rs137852234	A>G	Pathogenic	Coding sequence variant, intron variant, missense variant
rs137852235	G>C	Pathogenic	Coding sequence variant, intron variant, missense variant
rs137852236	A>G,T	Pathogenic	Coding sequence variant, intron variant, missense variant
rs137852237	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs137852238	G>A	Pathogenic	Coding sequence variant, missense variant
rs137852239	C>T	Pathogenic	Coding sequence variant, stop gained
rs137852240	C>T	Pathogenic	Coding sequence variant, missense variant
rs137852241	G>A	Pathogenic	Coding sequence variant, missense variant
rs137852243	G>A,C,T	Pathogenic	Coding sequence variant, missense variant
rs137852244	C>T	Pathogenic	Coding sequence variant, stop gained
rs137852245	A>T	Pathogenic	Coding sequence variant, missense variant
rs137852246	T>G	Pathogenic	Coding sequence variant, missense variant
rs137852247	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs137852248	C>A,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs137852249	G>A	Pathogenic	Coding sequence variant, missense variant
rs137852250	C>T	Pathogenic	Coding sequence variant, stop gained
rs137852251	A>G	Pathogenic	Coding sequence variant, missense variant
rs137852252	C>T	Pathogenic	Coding sequence variant, missense variant
rs137852253	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs137852254	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs137852255	T>C	Pathogenic	Coding sequence variant, missense variant
rs137852256	G>T	Pathogenic	Coding sequence variant, missense variant
rs137852257	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs137852258	C>G,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs137852259	G>A	Pathogenic	Coding sequence variant, missense variant
rs137852260	T>A,C	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs137852261	C>A,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs137852262	A>G	Pathogenic	Coding sequence variant, missense variant
rs137852263	C>T	Pathogenic	Coding sequence variant, missense variant
rs137852265	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs137852266	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs137852267	G>A	Pathogenic	Coding sequence variant, missense variant
rs137852268	T>C	Pathogenic	Coding sequence variant, missense variant
rs137852269	T>C	Pathogenic	Coding sequence variant, missense variant
rs137852270	A>T	Pathogenic	Coding sequence variant, stop gained
rs137852271	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs137852272	C>T	Pathogenic	Coding sequence variant, stop gained, intron variant
rs137852273	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs137852274	G>A	Pathogenic	Coding sequence variant, intron variant, missense variant
rs137852275	G>A	Pathogenic	Coding sequence variant, missense variant
rs137852276	G>T	Pathogenic	Coding sequence variant, missense variant
rs137852277	A>G	Pathogenic	Coding sequence variant, missense variant
rs137852278	G>C	Pathogenic	Coding sequence variant, missense variant
rs137852279	A>T	Pathogenic	Coding sequence variant, missense variant
rs137852280	T>A,G	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs137852281	G>C	Pathogenic	Coding sequence variant, missense variant
rs137852283	G>C,T	Pathogenic	Coding sequence variant, missense variant
rs144314232	G>A	Likely-pathogenic	Intron variant, synonymous variant, coding sequence variant
rs148060786	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs150190385	A>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs267606792	G>C	Pathogenic	Missense variant, coding sequence variant
rs387906474	T>C	Pathogenic	Missense variant, coding sequence variant
rs387906475	G>A	Pathogenic	Missense variant, coding sequence variant
rs387906477	G>T	Pathogenic	Missense variant, coding sequence variant
rs387906478	G>A	Pathogenic	Missense variant, coding sequence variant
rs387906479	G>T	Pathogenic	Missense variant, coding sequence variant
rs387906480	T>A	Pathogenic	Missense variant, coding sequence variant
rs387906481	T>C	Pathogenic	Missense variant, coding sequence variant
rs387906482	T>C	Pathogenic	Missense variant, coding sequence variant
rs398122990	A>G	Pathogenic	Intron variant
rs587776735	T>C	Pathogenic	Splice donor variant
rs587776736	AG>-	Pathogenic	Frameshift variant, coding sequence variant
rs749754992	A>G	Conflicting-interpretations-of-pathogenicity	Intron variant
rs753654616	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs757996262	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs762229532	C>A,T	Likely-pathogenic	Coding sequence variant, synonymous variant, missense variant
rs1166164399	G>A	Pathogenic	Genic upstream transcript variant, 5 prime UTR variant, upstream transcript variant
rs1216516070	G>A	Pathogenic	Missense variant, coding sequence variant, intron variant
rs1234002716	G>A	Pathogenic	Stop gained, coding sequence variant, intron variant
rs1266788575	G>A	Pathogenic	Intron variant
rs1275708479	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs1317977313	A>G	Pathogenic	3 prime UTR variant
rs1351675410	G>A	Pathogenic	Missense variant, intron variant, coding sequence variant
rs1385141619	G>A	Pathogenic	Coding sequence variant, missense variant
rs1434866164	G>A,C	Pathogenic	Splice acceptor variant
rs1479241411	G>A,T	Likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs1556006174	->A	Likely-pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1556008316	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1556008584	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1556435929	T>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1556435940	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1556437035	G>A	Likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs1569333062	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1569481966	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1603263374	TCA>AT	Pathogenic	Coding sequence variant, frameshift variant
rs1603263376	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1603263395	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs1603263397	G>A,T	Pathogenic, likely-pathogenic	Splice donor variant
rs1603263399	GTTT>-	Likely-pathogenic	Splice donor variant, intron variant
rs1603263401	G>T	Likely-pathogenic	Intron variant
rs1603264205	C>T	Pathogenic	Coding sequence variant, missense variant
rs1603264236	G>A	Pathogenic	Coding sequence variant, missense variant
rs1603264246	AC>-	Pathogenic	Coding sequence variant, stop gained
rs1603264299	T>G	Pathogenic	Coding sequence variant, missense variant
rs1603264300	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1603264719	T>C	Pathogenic	Coding sequence variant, missense variant, intron variant
rs1603264727	A>G	Pathogenic	Coding sequence variant, missense variant, intron variant
rs1603264736	GAAAGA>AAAGG	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1603265480	G>C	Pathogenic	Splice acceptor variant, intron variant
rs1603265481	T>C	Pathogenic	Coding sequence variant, missense variant, intron variant
rs1603265487	C>T	Pathogenic	Coding sequence variant, stop gained, intron variant
rs1603265500	G>A	Pathogenic	Coding sequence variant, missense variant, intron variant
rs1603265504	G>A	Likely-pathogenic	Coding sequence variant, missense variant, intron variant
rs1603265760	ATATCAGGTTACTAATTTTTCTTCTATTTTTCTAGTGCCATTTCCATGTGGAAGAGTTTCTGTTTCACAAACTTCTAAGCTCACCCGTGCTGAGACTGTTTTTCCTGATGTGGACTATGTAAATTCTACTGAAGCTGAAACCATTTTGGATAACATCACTCAAAGCACCCAATCATTTAATGACTTCACTCGGGTTGTTGGTGGAGAAGATGCCAAACCAGGTCAATTCCCTTGGCAGGTACTTTATACTGATGG	Pathogenic	Coding sequence variant, splice acceptor variant, intron variant, splice donor variant
rs1603265779	G>T	Pathogenic	Coding sequence variant, missense variant
rs1603265827	G>A	Pathogenic	Coding sequence variant, stop gained
rs1603265830	G>A	Pathogenic	Coding sequence variant, stop gained
rs1603265832	G>A	Pathogenic	Splice donor variant
rs1603267163	CACAGGTTGTTTT>-	Likely-pathogenic	Coding sequence variant, splice acceptor variant, intron variant
rs1603267171	T>C	Pathogenic	Coding sequence variant, missense variant
rs1603267181	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1603267194	T>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1603267195	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1603267332	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1603267344	T>C	Pathogenic	Coding sequence variant, missense variant
rs1603267362	A>G	Pathogenic	Coding sequence variant, missense variant
rs1603267391	TTCAGTAC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1603267393	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1603267398	C>A	Pathogenic	Coding sequence variant, stop gained
rs1603267411	T>A	Pathogenic	Coding sequence variant, stop gained
rs1603267412	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1603267420	T>A	Pathogenic	Coding sequence variant, missense variant
rs1603267428	->GAGAT	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1603267443	C>T	Pathogenic	Coding sequence variant, missense variant
rs1603267474	G>A	Pathogenic	Coding sequence variant, missense variant
rs1603267486	T>C	Pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT715255	hsa-miR-6845-3p	HITS-CLIP	19536157
MIRT715254	hsa-miR-302b-5p	HITS-CLIP	19536157
MIRT715253	hsa-miR-302d-5p	HITS-CLIP	19536157
MIRT715252	hsa-miR-7106-3p	HITS-CLIP	19536157
MIRT715255	hsa-miR-6845-3p	HITS-CLIP	19536157
MIRT715254	hsa-miR-302b-5p	HITS-CLIP	19536157
MIRT715253	hsa-miR-302d-5p	HITS-CLIP	19536157
MIRT715252	hsa-miR-7106-3p	HITS-CLIP	19536157
MIRT712007	hsa-miR-216b-3p	HITS-CLIP	19536157
MIRT712006	hsa-miR-6890-3p	HITS-CLIP	19536157
MIRT712005	hsa-miR-342-3p	HITS-CLIP	19536157
MIRT712004	hsa-miR-518c-5p	HITS-CLIP	19536157
MIRT712003	hsa-miR-326	HITS-CLIP	19536157
MIRT712002	hsa-miR-330-5p	HITS-CLIP	19536157
MIRT712001	hsa-miR-6764-3p	HITS-CLIP	19536157
MIRT712000	hsa-miR-6824-3p	HITS-CLIP	19536157
MIRT711999	hsa-miR-204-3p	HITS-CLIP	19536157
MIRT711998	hsa-miR-4646-5p	HITS-CLIP	19536157
MIRT711997	hsa-miR-3192-5p	HITS-CLIP	19536157
MIRT711996	hsa-miR-619-5p	HITS-CLIP	19536157
MIRT711995	hsa-miR-6506-5p	HITS-CLIP	19536157
MIRT711994	hsa-miR-3191-5p	HITS-CLIP	19536157
MIRT711993	hsa-miR-4314	HITS-CLIP	19536157
MIRT711992	hsa-miR-1302	HITS-CLIP	19536157
MIRT711991	hsa-miR-4298	HITS-CLIP	19536157
MIRT715255	hsa-miR-6845-3p	HITS-CLIP	19536157
MIRT715254	hsa-miR-302b-5p	HITS-CLIP	19536157
MIRT715253	hsa-miR-302d-5p	HITS-CLIP	19536157
MIRT715252	hsa-miR-7106-3p	HITS-CLIP	19536157
MIRT715255	hsa-miR-6845-3p	HITS-CLIP	19536157
MIRT715254	hsa-miR-302b-5p	HITS-CLIP	19536157
MIRT715253	hsa-miR-302d-5p	HITS-CLIP	19536157
MIRT715252	hsa-miR-7106-3p	HITS-CLIP	19536157
MIRT712007	hsa-miR-216b-3p	HITS-CLIP	19536157
MIRT712006	hsa-miR-6890-3p	HITS-CLIP	19536157
MIRT712005	hsa-miR-342-3p	HITS-CLIP	19536157
MIRT712004	hsa-miR-518c-5p	HITS-CLIP	19536157
MIRT712003	hsa-miR-326	HITS-CLIP	19536157
MIRT712002	hsa-miR-330-5p	HITS-CLIP	19536157
MIRT712001	hsa-miR-6764-3p	HITS-CLIP	19536157
MIRT712000	hsa-miR-6824-3p	HITS-CLIP	19536157
MIRT711999	hsa-miR-204-3p	HITS-CLIP	19536157
MIRT711998	hsa-miR-4646-5p	HITS-CLIP	19536157
MIRT711997	hsa-miR-3192-5p	HITS-CLIP	19536157
MIRT711996	hsa-miR-619-5p	HITS-CLIP	19536157
MIRT711995	hsa-miR-6506-5p	HITS-CLIP	19536157
MIRT711994	hsa-miR-3191-5p	HITS-CLIP	19536157
MIRT711993	hsa-miR-4314	HITS-CLIP	19536157
MIRT711992	hsa-miR-1302	HITS-CLIP	19536157
MIRT711991	hsa-miR-4298	HITS-CLIP	19536157
MIRT974765	hsa-miR-142-3p	CLIP-seq
MIRT974766	hsa-miR-3125	CLIP-seq
MIRT974767	hsa-miR-3132	CLIP-seq
MIRT974768	hsa-miR-3671	CLIP-seq
MIRT974769	hsa-miR-3916	CLIP-seq
MIRT974770	hsa-miR-4255	CLIP-seq
MIRT974771	hsa-miR-4272	CLIP-seq
MIRT974772	hsa-miR-4426	CLIP-seq
MIRT974773	hsa-miR-4436b-5p	CLIP-seq
MIRT974774	hsa-miR-4451	CLIP-seq
MIRT974775	hsa-miR-4647	CLIP-seq
MIRT974776	hsa-miR-4662b	CLIP-seq
MIRT974777	hsa-miR-4762-5p	CLIP-seq
MIRT974778	hsa-miR-495	CLIP-seq
MIRT974779	hsa-miR-515-5p	CLIP-seq
MIRT974780	hsa-miR-607	CLIP-seq
MIRT974781	hsa-miR-877	CLIP-seq
MIRT1988807	hsa-miR-1224-5p	CLIP-seq
MIRT974766	hsa-miR-3125	CLIP-seq
MIRT974767	hsa-miR-3132	CLIP-seq
MIRT1988808	hsa-miR-3915	CLIP-seq
MIRT974769	hsa-miR-3916	CLIP-seq
MIRT1988809	hsa-miR-3928	CLIP-seq
MIRT974773	hsa-miR-4436b-5p	CLIP-seq
MIRT974774	hsa-miR-4451	CLIP-seq
MIRT1988810	hsa-miR-4477a	CLIP-seq
MIRT1988811	hsa-miR-4689	CLIP-seq
MIRT1988812	hsa-miR-4719	CLIP-seq
MIRT1988813	hsa-miR-4760-3p	CLIP-seq
MIRT1988814	hsa-miR-513b	CLIP-seq
MIRT974779	hsa-miR-515-5p	CLIP-seq
MIRT974781	hsa-miR-877	CLIP-seq
MIRT2223198	hsa-miR-329	CLIP-seq
MIRT2223199	hsa-miR-3618	CLIP-seq
MIRT2223200	hsa-miR-362-3p	CLIP-seq
MIRT2223201	hsa-miR-3941	CLIP-seq
MIRT2223202	hsa-miR-603	CLIP-seq
MIRT2387602	hsa-miR-1305	CLIP-seq
MIRT2387603	hsa-miR-2053	CLIP-seq
MIRT2387604	hsa-miR-4775	CLIP-seq
MIRT2387605	hsa-miR-569	CLIP-seq
MIRT2387606	hsa-miR-590-3p	CLIP-seq
MIRT2465237	hsa-miR-1267	CLIP-seq
MIRT2465238	hsa-miR-3973	CLIP-seq
MIRT2465239	hsa-miR-4452	CLIP-seq
MIRT2465240	hsa-miR-520g	CLIP-seq
MIRT2465241	hsa-miR-520h	CLIP-seq
MIRT2465242	hsa-miR-653	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
CEBPA	Activation	8075306

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004175	Function	Endopeptidase activity	IDA	2592373, 20121197
GO:0004175	Function	Endopeptidase activity	IEA
GO:0004252	Function	Serine-type endopeptidase activity	IBA
GO:0004252	Function	Serine-type endopeptidase activity	IEA
GO:0004252	Function	Serine-type endopeptidase activity	NAS	8632006
GO:0005509	Function	Calcium ion binding	EXP	14722079
GO:0005509	Function	Calcium ion binding	IDA	9169594, 14722079, 20121197
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	26157780, 26414444
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	NAS	14718574
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	2592373, 8632006
GO:0005788	Component	Endoplasmic reticulum lumen	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005796	Component	Golgi lumen	IEA
GO:0005796	Component	Golgi lumen	TAS
GO:0005886	Component	Plasma membrane	TAS
GO:0006508	Process	Proteolysis	IDA	20121197
GO:0006508	Process	Proteolysis	IEA
GO:0007596	Process	Blood coagulation	IBA
GO:0007596	Process	Blood coagulation	IDA	2472424, 20121197
GO:0007596	Process	Blood coagulation	IEA
GO:0007596	Process	Blood coagulation	IEA
GO:0007596	Process	Blood coagulation	IMP	2592373
GO:0007599	Process	Hemostasis	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008236	Function	Serine-type peptidase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0031012	Component	Extracellular matrix	HDA	25037231
GO:0031638	Process	Zymogen activation	IBA
GO:0031638	Process	Zymogen activation	IDA	2592373
GO:0031638	Process	Zymogen activation	IEA
GO:0046872	Function	Metal ion binding	EXP	14722079
GO:0046872	Function	Metal ion binding	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145

Other IDs

• MIM: 300746
• HGNC: 3551
• e!Ensembl: ENSG00000101981

Protein

• UniProt ID: P00740
• Protein name: Coagulation factor IX (EC 3.4.21.22) (Christmas factor) (Plasma thromboplastin component) (PTC) [Cleaved into: Coagulation factor IXa light chain; Coagulation factor IXa heavy chain]
• Protein function: Factor IX is a vitamin K-dependent plasma protein that participates in the intrinsic pathway of blood coagulation by converting factor X to its active form in the presence of Ca(2+) ions, phospholipids, and factor VIIIa. {ECO:0000269|PubMed:1730
• PDB: 1CFH, 1CFI, 1EDM, 1IXA, 1MGX, 1NL0, 1RFN, 2WPH, 2WPI, 2WPJ, 2WPK, 2WPL, 2WPM, 3KCG, 3LC3, 3LC5, 4WM0, 4WMA, 4WMB, 4WMI, 4WMK, 4WN2, 4WNH, 4YZU, 4Z0K, 4ZAE, 5EGM, 5F84, 5F85, 5F86, 5JB8, 5JB9, 5JBA, 5JBB, 5JBC, 5TNO, 5TNT, 5VYG, 6MV4, 6RFK, 6X5J, 6X5L, 6X5P, 7AHV, 8EPC, 8EPH, 8EPK, 8OL9, 9BVK, 9BVR
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00594	Gla	52 → 92	Vitamin K-dependent carboxylation/gamma-carboxyglutamic (GLA) domain	Domain
  PF00008	EGF	97 → 127	EGF-like domain	Domain
  PF14670	FXa_inhibition	134 → 170		Domain
  PF00089	Trypsin	227 → 454	Trypsin	Domain

• Tissue specificity: TISSUE SPECIFICITY: Detected in blood plasma (at protein level) (PubMed:19846852, PubMed:2592373, PubMed:3857619, PubMed:8295821, PubMed:9169594). Synthesized primarily in the liver and secreted in plasma. {ECO:0000269|PubMed:19846852, ECO:0000269|PubMed:
• Sequence:

  MQRVNMIMAESPGLITICLLGYLLSAECTVFLDHENANKILNRPKRYNSGKLEEFVQGNL
  ERECMEEKCSFEEAREVFENTERTTEFWKQYVDGDQCESNPCLNGGSCKDDINSYECWCP
  FGFEGKNCELDVTCNIKNGRCEQFCKNSADNKVVCSCTEGYRLAENQKSCEPAVPFPCGR
  VSVSQTSKLTRAETVFPDVDYVNSTEAETILDNITQSTQSFNDFTRVVGGEDAKPGQFPW
  QVVLNGKVDAFCGGSIVNEKWIVTAAHCVETGVKITVVAGEHNIEETEHTEQKRNVIRII
  PHHNYNAAINKYNHDIALLELDEPLVLNSYVTPICIADKEYTNIFLKFGSGYVSGWGRVF
  HKGRSALVLQYLRVPLVDRATCLRSTKFTIYNNMFCAGFHEGGRDSCQGDSGGPHVTEVE
  GTSFLTGIISWGEECAMKGKYGIYTKVSRYVNWIKEKTKLT

• Sequence length: 461

Pathways

KEGG:

Complement and coagulation cascades

Reactome:

Extrinsic Pathway of Fibrin Clot Formation
Intrinsic Pathway of Fibrin Clot Formation
Gamma-carboxylation of protein precursors
Transport of gamma-carboxylated protein precursors from the endoplasmic reticulum to the Golgi apparatus
Removal of aminoterminal propeptides from gamma-carboxylated proteins

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
Abnormality of coagulation	Pathogenic	rs137852247, rs1603264300	RCV000851897 RCV000851757	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
F9-related disorder	Pathogenic; Likely pathogenic	rs137852233, rs137852240, rs137852241, rs137852254, rs137852255, rs137852261, rs1287011273, rs1330705989, rs2520803292, rs1371750567, rs1224128266, rs1927766998, rs1275708479	RCV003430636 RCV003407315 RCV004752695 RCV004752696 RCV004730842 RCV003398481 RCV003408309 RCV003421176 RCV003392999 RCV003421141 RCV003412251 RCV003404429 RCV004753261	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HEMOPHILIA B BRANDENBURG	Pathogenic	rs2148352851	RCV000011399	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hemophilia B leyden	Pathogenic; Likely pathogenic	rs1178811105, rs2148352878, rs2148352869, rs1927322453, rs1927322926, rs1166164399	RCV000011304 RCV000011307 RCV000011390 RCV000011391 RCV000011392 RCV001815011	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hemophilia b(m)	Pathogenic	rs137852241, rs137852243	RCV000011337 RCV000011340	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary factor IX deficiency disease	Likely pathogenic; Pathogenic	rs2148357901, rs759987427, rs1330779541, rs2148356221, rs2148367245, rs1275842849, rs2148368332, rs1439169192, rs2148367725, rs2148358021, rs780435919, rs1229048705, rs1175050951, rs2148367882, rs1928109999, rs2148367304, rs137852247, rs1927592901, rs2148353009, rs2148361240, rs2148362390, rs1390220758, rs1927590546, rs1927593812, rs1927592770, rs1927589695, rs1927507602, rs2148367990, rs1197719763, rs2520842805, rs1927329129, rs1349887620, rs2520790255, rs1927768022, rs267606792, rs1162048721, rs137852249, rs1479241411, rs1928116697, rs1388797589, rs137852273, rs758194285, rs2520790212, rs2520848016, rs2520763530, rs2520844630, rs2520846993, rs2520744315, rs137852223, rs387906474, rs137852226, rs137852227, rs137852228, rs137852229, rs137852230, rs137852231, rs137852232, rs137852233, rs137852234, rs137852235, rs137852236, rs137852237, rs137852238, rs137852248, rs137852239, rs137852240, rs137852241, rs387906477, rs137852243, rs137852244, rs137852245, rs1603265832, rs137852246, rs387906478, rs137852250, rs137852251, rs137852252, rs137852253, rs137852254, rs137852255, rs137852256, rs1928114627, rs137852257, rs137852258, rs137852259, rs137852260, rs137852261, rs137852262, rs137852263, rs387906479, rs137852265, rs137852266, rs137852267, rs137852268, rs137852269, rs137852270, rs2520790051, rs137852271, rs137852272, rs137852274, rs1927322926, rs137852275, rs137852276, rs137852277, rs137852278, rs137852279, rs387906481, rs137852280, rs137852283, rs137852281, rs587776735, rs387906482, rs587776736, rs2520846740, rs2520845620, rs2520845596, rs1927328297, rs2520844151, rs1233706534, rs2520839064, rs1927493197, rs1468904853, rs1354291965, rs2520802842, rs1182648920, rs1928107434, rs2520845534, rs1387119011, rs1465724732, rs1371750567, rs1170838100, rs2520845719, rs2520846572, rs1927508585, rs1603267474, rs2520848336, rs1928111051, rs1341687319, rs1556435929, rs1556006174, rs1556008316, rs1556437035, rs1556435940, rs1434866164, rs1603265481, rs1603267194, rs1603267393, rs1317977313, rs1603263401, rs1603265507, rs1603263395, rs1166164399, rs1603263399, rs1603264205, rs1275708479, rs137852224, rs1266788575, rs1603264727, rs1234002716, rs1216516070, rs144314232, rs1603265504, rs1603265827, rs1603265830, rs1603267171, rs1603267344, rs1603267412, rs1385141619, rs1603267332, rs1603267362, rs1433656857, rs1928130497, rs1927768329, rs1927498635, rs1927764839, rs1928103331, rs1371397743, rs1928110579, rs1224128266, rs398122990, rs1286009187	RCV001378578 RCV001380937 RCV001390294 RCV001383640 RCV001390297 RCV001382694 RCV001382696 RCV001815042 RCV001814742 RCV001838829 RCV001934253 RCV002032039 RCV001905309 RCV001930794 RCV002000163 RCV001912843 RCV001973941 RCV002016448 RCV001925914 RCV001982942 RCV001982943 RCV002009981 RCV002222139 RCV002245377 RCV002245378 RCV002245379 RCV002245380 RCV002272625 RCV002466802 RCV002469944 RCV003050656 RCV003050657 RCV003066386 RCV003050658 RCV003066387 RCV003066388 RCV003066389 RCV003066390 RCV003050659 RCV003066391 RCV003050660 RCV003050661 RCV002842844 RCV002852374 RCV000197147 RCV003048142 RCV003152922 RCV003153105 RCV000011311 RCV000011313 RCV000011314 RCV000011317 RCV000011318 RCV000011319 RCV000011320 RCV000011322 RCV000011323 RCV000011324 RCV000011325 RCV000011326 RCV000011327 RCV000011328 RCV000011330 RCV000011331 RCV000011333 RCV000011335 RCV000011336 RCV001727513 RCV000011338 RCV000011339 RCV000011341 RCV000011342 RCV000011343 RCV000011345 RCV000011347 RCV000011348 RCV000011349 RCV000011350 RCV000011351 RCV000011352 RCV000011353 RCV000011354 RCV000011355 RCV000011356 RCV000011357 RCV000011358 RCV000011359 RCV000011360 RCV000011361 RCV000011362 RCV000011363 RCV000011364 RCV000011366 RCV000011368 RCV000011369 RCV000011370 RCV000011371 RCV000011372 RCV000011373 RCV000011384 RCV000011385 RCV000011386 RCV000011388 RCV000011389 RCV003764554 RCV000011393 RCV000011395 RCV000011396 RCV000011397 RCV000011398 RCV000011402 RCV000011403 RCV000011413 RCV000011407 RCV000011409 RCV000011410 RCV000011411 RCV000011412 RCV000119810 RCV003324303 RCV003330477 RCV003484568 RCV003484572 RCV003484576 RCV003486523 RCV003510979 RCV003785396 RCV003783784 RCV003783785 RCV003783786 RCV003783787 RCV003783788 RCV003783789 RCV003783792 RCV003783793 RCV003783794 RCV003783795 RCV003783796 RCV003782493 RCV003807642 RCV003994820 RCV004577668 RCV004577669 RCV004577670 RCV004577674 RCV004577675 RCV000497960 RCV000498702 RCV000497396 RCV001378470 RCV000551608 RCV000696357 RCV004812364 RCV004812363 RCV004577530 RCV001378168 RCV003768318 RCV005253114 RCV001869074 RCV000806960 RCV000795083 RCV001265099 RCV001815019 RCV001815018 RCV004587010 RCV001265096 RCV001858905 RCV001858906 RCV004689950 RCV004587009 RCV003387953 RCV002282420 RCV003509643 RCV003117680 RCV003769385 RCV003769377 RCV004577539 RCV004577540 RCV001003926 RCV001003927 RCV001068935 RCV001039346 RCV001238122 RCV001265098 RCV001265101 RCV001265102 RCV001265104 RCV001265100 RCV001265103 RCV001265097 RCV001265105 RCV000077844 RCV005647382	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary factor VIII deficiency disease	Pathogenic; Likely pathogenic	rs137852247, rs137852228, rs137852238, rs137852249, rs137852254, rs137852257, rs137852259, rs1603263395, rs1603265481, rs1603267181, rs1603267194, rs137852253, rs1603267393, rs1317977313, rs1603263397, rs1603263401, rs1603265507, rs1603267163, rs1603265760	RCV000851896 RCV000852079 RCV000851602 RCV000851909 RCV000851963 RCV000851648 RCV000851995 RCV000852238 RCV000851938 RCV000851869 RCV000851893 RCV000851629 RCV000851659 RCV000851959 RCV000851907 RCV000851908 RCV000851944 RCV000852198 RCV000852257	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Reduced factor IX activity	Pathogenic	rs1603264246	RCV000788997	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thrombophilia, X-linked, due to factor 9 defect	Likely pathogenic; Pathogenic	rs2148357901, rs759987427, rs1330779541, rs2148356221, rs2148367245, rs1275842849, rs2148368332, rs1439169192, rs780435919, rs1229048705, rs1175050951, rs2148367882, rs1928109999, rs2148367304, rs137852247, rs1927592901, rs2148353009, rs2148361240, rs2148362390, rs1390220758, rs2520842805, rs1927329129, rs1349887620, rs2520790255, rs1927768022, rs267606792, rs1162048721, rs137852249, rs1479241411, rs1928116697, rs1388797589, rs137852273, rs758194285, rs2520790212, rs2520848016, rs2520763530, rs137852227, rs137852228, rs137852232, rs137852233, rs137852237, rs137852238, rs137852248, rs137852240, rs137852250, rs137852254, rs137852255, rs137852258, rs137852259, rs137852260, rs137852261, rs137852268, rs137852272, rs1927322926, rs137852277, rs387906481, rs137852283, rs2520839064, rs1927493197, rs1468904853, rs1354291965, rs2520802842, rs1182648920, rs1928107434, rs2520845534, rs1387119011, rs1465724732, rs1371750567, rs1170838100, rs2520845719, rs2520846572, rs1556437035, rs1556435940, rs1434866164, rs1603267393, rs1317977313, rs1603265507, rs1603263395, rs1166164399, rs1603264205, rs1275708479, rs1603264727, rs1234002716, rs144314232, rs1603267344, rs1603267412, rs1603267362, rs1433656857, rs1928130497, rs1927768329, rs398122990	RCV001378578 RCV001380937 RCV001390294 RCV001383640 RCV001390297 RCV001382694 RCV001382696 RCV003772215 RCV001934253 RCV002032039 RCV001905309 RCV001930794 RCV002000163 RCV001912843 RCV001973941 RCV002016448 RCV001925914 RCV001982942 RCV001982943 RCV002009981 RCV003775502 RCV003050656 RCV003050657 RCV003066386 RCV003050658 RCV003066387 RCV003066388 RCV003066389 RCV003066390 RCV003050659 RCV003066391 RCV003050660 RCV003050661 RCV002842844 RCV002852374 RCV001378167 RCV003048142 RCV000696946 RCV001851790 RCV003764550 RCV000795416 RCV001390295 RCV001390296 RCV001069256 RCV002512970 RCV000814168 RCV002512971 RCV000792734 RCV003764551 RCV001851791 RCV001851792 RCV003764552 RCV001048961 RCV001382695 RCV003764553 RCV003764554 RCV002512972 RCV001851793 RCV000011414 RCV003785396 RCV003783784 RCV003783785 RCV003783786 RCV003783787 RCV003783788 RCV003783789 RCV003783792 RCV003783793 RCV003783794 RCV003783795 RCV003783796 RCV003782493 RCV003807642 RCV001378470 RCV000551608 RCV000696357 RCV001378168 RCV003768318 RCV001869074 RCV000806960 RCV000795083 RCV001860507 RCV001869416 RCV001858905 RCV001858906 RCV005047185 RCV003769385 RCV003769377 RCV002489512 RCV001068935 RCV001039346 RCV001238122 RCV001072034	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Warfarin sensitivity, X-linked	Likely pathogenic; Pathogenic	rs759987427, rs780435919, rs137852228, rs137852233, rs137852237, rs137852250, rs137852254, rs137852268, rs1327097914, rs144314232, rs1603267412, rs1603267362	RCV005040248 RCV005042562 RCV002490353 RCV002496325 RCV005042030 RCV004819206 RCV005042031 RCV005042032 RCV000011406 RCV005047185 RCV005047182 RCV002489512	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BIPOLAR DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLEEDING DISORDER IN HEMOPHILIA B CARRIERS	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deep venous thrombosis, protection against	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
F9 POLYMORPHISM	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FACTOR IX POLYMORPHISM	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOPHILIA A	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOPHILIA B	—	CTD, ClinGen, Disgenet, GWAS catalog, HPO CTD, ClinGen, Disgenet, GWAS catalog, HPO CTD, ClinGen, Disgenet, GWAS catalog, HPO CTD, ClinGen, Disgenet, GWAS catalog, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MESOTHELIOMA, MALIGNANT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MILD HEMOPHILIA B	—	GenCC, Orphanet GenCC, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MODERATE HEMOPHILIA B	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MODERATELY SEVERE HEMOPHILIA B	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THROMBOPHILIA, X-LINKED, DUE TO FACTOR IX DEFECT	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THROMBOSIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombus	Uncertain significance	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	23015030		★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	BEFREE	21681782		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	8946928		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	3042790, 30914194		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	28261999		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Oxyphilic	Adenocarcinoma	BEFREE	24559275, 28816539		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Tubular	Adenocarcinoma	BEFREE	30349383		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	10646882, 15126554, 17639054		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	24702198, 27623068, 28314770, 9841749		★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	2787798, 3872164, 6090008, 6331549, 6833950, 8946928		★☆☆☆☆ Found in Text Mining only
Afibrinogenemia	Afibrinogenemia	BEFREE	16684009		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	29168048		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	17916583		★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	19809427, 25260367		★☆☆☆☆ Found in Text Mining only
Anaplastic carcinoma	Anaplastic Carcinoma	BEFREE	10934169		★☆☆☆☆ Found in Text Mining only
Anaplastic thyroid carcinoma	Anaplastic thyroid cancer	BEFREE	12729478, 15880523, 19370508, 24295207, 25456951, 27259715, 29976183		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	15357775		★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	29945918		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	26983359		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	17049378		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	17049378		★☆☆☆☆ Found in Text Mining only
Aplastic Anemia	Aplastic anemia	BEFREE	18190588		★☆☆☆☆ Found in Text Mining only
Arthropathy	Arthropathy	BEFREE	21780945, 27148842, 30411401, 30559263		★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	24295207		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	15540515, 23579029, 28850053		★☆☆☆☆ Found in Text Mining only
Autoimmune thyroiditis	Autoimmune Thyroiditis	BEFREE	16405407		★☆☆☆☆ Found in Text Mining only
Autosomal Hemophilia A	Factor VIII deficiency	CTD_human_DG	16051741		★☆☆☆☆ Found in Text Mining only
B-CELL MALIGNANCY, LOW-GRADE	Lymphocytic Leukemia	BEFREE	16906577		★☆☆☆☆ Found in Text Mining only
Basal Cell Nevus Syndrome	Basal Cell Neoplasm	BEFREE	10554356, 15308259		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	18205865		★☆☆☆☆ Found in Text Mining only
Benign Neoplasm	Benign Neoplasm	BEFREE	22158616, 27219469		★☆☆☆☆ Found in Text Mining only
Biliary Tract Cancer	Biliary Tract Cancer	BEFREE	26623561		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	1980485, 9132265		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	1980485, 2884369, 7760986, 9132265		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	9132265	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blood Coagulation Disorders	Blood Coagulation Disorders	BEFREE	10027710, 10097136, 10215951, 10215957, 11273783, 12010428, 12463593, 12588353, 14712305, 15138162, 16086639, 16322469, 16643212, 17014892, 17266422, 17397055, 17594244, 18293119, 18540896, 20305539, 22137432, 23759700, 2385589, 24042561, 24637359, 24762281, 24911674, 25675273, 2714791, 28599169, 31180618, 7559437, 9207793, 9446637, 9883841		★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood coagulation disorder	Pubtator	10970782, 2303434, 31219805, 34248840, 36285399, 3924593	Associate	★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders, Inherited	Blood Coagulation Disorders	BEFREE	12109144		★☆☆☆☆ Found in Text Mining only
Bone Marrow Diseases	Bone Marrow Diseases	BEFREE	1537894		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	27105531, 28418883		★☆☆☆☆ Found in Text Mining only
C-cell hyperplasia of thyroid	Thyroid Hyperplasia	BEFREE	15588381		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	10566678, 12684664, 16290057, 17639054, 19147628, 22803838, 23746767, 24973511		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	25520033		★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	11841368, 12786818, 8658145		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	20603238, 29158468		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	28393470		★☆☆☆☆ Found in Text Mining only
Cataract, total congenital with posterior sutural opacities in Heterozygotes	Congenital Cataract	BEFREE	9590153		★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	25198673		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	28393470		★☆☆☆☆ Found in Text Mining only
Childhood Ganglioglioma	Ganglioglioma	BEFREE	17259542		★☆☆☆☆ Found in Text Mining only
Choroideremia	Choroideremia	BEFREE	27329764		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	16906577		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	29945876		★☆☆☆☆ Found in Text Mining only
Color blindness	Color Blindness	BEFREE	16431664, 1980485, 310801, 7726217		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	18612427, 25015728, 28990086		★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	15188460, 26686734		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	29754812		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	20173117		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	28393470		★☆☆☆☆ Found in Text Mining only
Costello syndrome (disorder)	Costello syndrome	BEFREE	26138095		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	23575333, 28411872, 30032288, 30056776, 30563755		★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	24858900		★☆☆☆☆ Found in Text Mining only
Deep Vein Thrombosis	Thrombosis	BEFREE	11122387, 19286883, 19407317, 23015030		★☆☆☆☆ Found in Text Mining only
Deep Vein Thrombosis	Thrombosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	16269929, 17569750, 18276743		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Delirium	Delirium	Pubtator	37748302	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	31325222		★☆☆☆☆ Found in Text Mining only
Differentiated Thyroid Gland Carcinoma	Thyroid Carcinoma	BEFREE	12729478, 22690899, 24325646, 24405857, 28704099, 29446856		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	11390512		★☆☆☆☆ Found in Text Mining only
Dyschromatopsia	Dyschromatopsia	BEFREE	7726217		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	15805664		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	29158468		★☆☆☆☆ Found in Text Mining only
Erythema Nodosum	Erythema nodosum	BEFREE	18205865		★☆☆☆☆ Found in Text Mining only
Factor VII Deficiency	Factor VII Deficiency	BEFREE	10805278		★☆☆☆☆ Found in Text Mining only
Factor VIII Deficiency	Factor VIII Deficiency	CTD_human_DG	16051741		★☆☆☆☆ Found in Text Mining only
Factor X Deficiency	Factor X Deficiency	BEFREE	18374200		★☆☆☆☆ Found in Text Mining only
Factor X Deficiency	Factor x deficiency	Pubtator	33190257	Associate	★☆☆☆☆ Found in Text Mining only
Factor XI Deficiency	Factor xi deficiency	Pubtator	12586617, 15456490, 9787168	Associate	★☆☆☆☆ Found in Text Mining only
familial non-medullary thyroid cancer	Thyroid cancer	BEFREE	21049463		★☆☆☆☆ Found in Text Mining only
Follicular adenoma	Adenoma	BEFREE	16889486, 20130073, 28261999, 29582677, 29683529		★☆☆☆☆ Found in Text Mining only
Follicular thyroid carcinoma	Follicular Thyroid Carcinoma	BEFREE	12192544, 12729478, 21778212, 22690899, 24510380, 24559275, 27207655, 28017809, 28114855, 29046324, 29108474, 29731874, 30673845		★☆☆☆☆ Found in Text Mining only
Fragile X Syndrome	Fragile X Syndrome	BEFREE	2995232, 3860635, 6595664		★☆☆☆☆ Found in Text Mining only
FRAXA Syndrome	Fragile X syndrome	BEFREE	1673310		★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	24114011		★☆☆☆☆ Found in Text Mining only
Ganglioglioma	Ganglioglioma	BEFREE	17259542		★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher Disease	BEFREE	1267559		★☆☆☆☆ Found in Text Mining only
Giant Cell Arteritis	Giant Cell Arteritis	BEFREE	29731755		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	30938185		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	29886801		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	29886801		★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	12684664		★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto Disease	BEFREE	16405407, 20012784, 31686862		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	29754812		★☆☆☆☆ Found in Text Mining only
Hematological Disease	Hematological Disease	BEFREE	30210749		★☆☆☆☆ Found in Text Mining only
Hematopoietic Neoplasms	Hematopoietic Neoplasms	BEFREE	8946928		★☆☆☆☆ Found in Text Mining only
Hemophilia A	Hemophilia	BEFREE	10027708, 10365659, 1036844, 10469176, 10744150, 11171549, 11547364, 11554929, 11735604, 11873243, 12109144, 12222714, 12463593, 12640573, 12781551, 12871416, 15057309, 15118930, 15230944, 15479373, 15508114, 16011585, 16102034, 16276463, 16474400, 16684001, 1683292, 16888433, 17123389, 17266422, 17596134, 18370215, 18374200, 18459950, 18600094, 18841277, 19603001, 1981181, 1982946, 20132333, 20590852, 21239794, 21325603, 21396685, 2162822, 21771207, 22031860, 22137432, 22671033, 23517072, 2372509, 23809114, 23913812, 2472424, 24762281, 24911674, 2508796, 25224783, 2563663, 25849132, 26149016, 26635073, 26637698, 26960037, 26964564, 27061380, 2713493, 27148841, 27405674, 27685947, 28039188, 28264199, 2831715, 28411016, 28599169, 28651975, 28691557, 28750474, 28793786, 28921441, 28984010, 29211678, 29232720, 29334995, 29357074, 29357868, 29405496, 29446525, 29517971, 29563336, 29624465, 29808946, 29845491, 29878653, 29895509, 29979821, 29994897, 30073913, 30093248, 30128815, 30146094, 30210749, 3033024, 30411401, 30507046, 30705923, 30709356, 30865582, 30999657, 31069799, 31070517, 31267011, 31272859, 31383642, 31427262, 31517708, 31594977, 31606899, 31676141, 31697801, 31743722, 31815335, 31846168, 3487139, 3499681, 7101232, 8239704, 8318985, 8512923, 8518277, 8602635, 8865521, 9207793, 9590153		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemophilia A	Hemophilia a	Pubtator	10027708, 16051741, 16420569, 16551972, 1675686, 20864578, 2162822, 2472424, 2563663, 2831715, 31267011, 3461460, 35314527, 36473488, 8602635	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemophilia A	Hemophilia	CTD_human_DG	16051741		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemophilia A	Hemophilia	CLINVAR_DG	31064749		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemophilia B	Hemophilia	BEFREE	10028310, 10068660, 10097136, 10192459, 10215957, 103564, 1036844, 10516718, 10569955, 10577911, 10595634, 10698280, 10700178, 10744150, 10753068, 10769754, 10792479, 10802653, 10805278, 1082713, 10942410, 11025603, 11057861, 11122097, 11122099, 11240615, 11369429, 11380446, 11385709, 11520790, 11554942, 11595404, 11735604, 11754103, 11795424, 11916066, 12174674, 12222714, 12463593, 12515715, 12588353, 12614370, 12687663, 12781551, 12871290, 12871416, 12871546, 12918547, 12969984, 1346975, 1356960, 14712305, 15009460, 15086324, 15178576, 15357775, 15357782, 15508114, 15550487, 15590401, 15889137, 15975012, 16051741, 16086639, 16096011, 16102034, 16163377, 16249376, 16270645, 1631558, 1634040, 16411385, 16474400, 16643212, 1680287, 16822719, 1683496, 16868252, 16888433, 17014892, 17066096, 17095052, 17264943, 17308903, 1733855, 17362228, 17397055, 1740319, 17594244, 17596134, 17663728, 17880456, 1796396, 17979678, 18370215, 18374200, 18432276, 18434706, 18449417, 18540896, 18600094, 1864609, 18682698, 1871712, 18721150, 18841277, 1896457, 19262239, 19309290, 19357501, 19603001, 1969838, 1980717, 1982946, 1986380, 1998585, 2004020, 20056791, 20305539, 20335222, 20424599, 20445020, 20492477, 20539913, 2066105, 2096489, 21244243, 21301787, 21325603, 21410419, 21700771, 21710610, 21780945, 21833450, 2192981, 2212858, 22137432, 22149959, 22271447, 22421106, 22461470, 22618954, 2270538, 22764744, 22829631, 22919027, 2306516, 23093250, 23197580, 23233607, 23360488, 2339358, 2342576, 23472758, 23517072, 2352926, 23617593, 23676890, 23689273, 23692404, 2370049, 2372508, 23759700, 2385589, 23941813, 24042561, 24106222, 24106230, 24375831, 24460861, 24500177, 24656159, 24679056, 2472424, 24762274, 24762281, 2481310, 25034357, 2508796, 25142322, 25251685, 25409372, 25417755, 25419787, 25470321, 25568350, 25675273, 25739383, 25745178, 25795563, 25851619, 25929987, 25981983, 25982359, 25990590, 26023895, 26149016, 26805907, 26823276, 26960037, 27109384, 27126652, 27148842, 27333467, 2738071, 2743975, 27480487, 2752145, 2753873, 27824213, 27834949, 2788012, 27988873, 28007939, 28153098, 28159192, 28166609, 28168417, 28196793, 28202722, 2821070, 28233381, 28243977, 2831715, 28331929, 28335488, 28337764, 28357444, 28406575, 2841226, 28440032, 28460646, 2848757, 28508290, 28567541, 28594432, 28645365, 28646206, 28646426, 28688133, 28752769, 2875754, 28826659, 28833808, 28895303, 28905352, 2902887, 29135476, 2917183, 2917196, 29172774, 29178325, 29211678, 29232720, 29245009, 29246900, 29314552, 29363389, 29388273, 29446525, 29446741, 29488668, 29599079, 29608237, 29624465, 29713519, 29719266, 2981590, 29909699, 29925096, 2992643, 29993188, 29994897, 3001143, 3008893, 3009023, 30210749, 30248217, 30254423, 3029178, 3029708, 30364483, 30394056, 30408273, 30427091, 30453348, 30520547, 30705923, 30771412, 30795708, 30817849, 30865582, 30992271, 31006077, 31069799, 31094591, 31102861, 31106079, 31168882, 31180618, 31219805, 31253089, 31272859, 31427262, 31446339, 31469321, 31537632, 31659733, 31698454, 31709273, 31808868, 3181127, 31820573, 3243764, 3262389, 3401602, 3416069, 3426960, 3461460, 3487139, 3499681, 3514676, 3556729, 3563965, 3651597, 3790720, 3873655, 391020, 3965513, 4033760, 4040611, 465373, 476013, 6142993, 6325506, 6603618, 6689201, 6843667, 7101232, 7407407, 7528527, 7544665, 7571995, 7734378, 7740444, 7795145, 7873393, 7915915, 7937052, 7949171, 7974379, 7986720, 7989034, 8043442, 8055323, 8069649, 8075306, 8076946, 8096443, 8101718, 8111369, 8251390, 8320491, 8324220, 8338876, 8365725, 8423707, 8434583, 8478007, 8499919, 8499951, 8560402, 8578494, 8594556, 8602635, 8603026, 8632006, 8652822, 8701406, 8772212, 8839853, 8865521, 8875257, 9016521, 9100030, 9207793, 9233568, 9242498, 9259588, 9275366, 9326649, 9354664, 9399849, 9446637, 9450791, 952762, 9590153, 9600455, 9716144, 9788727, 9873759, 9883841		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemophilia B	Hemophilia	UNIPROT_DG	10094553, 10698280, 11122099, 12588353, 12604421, 1346975, 1615485, 1902289, 1958666, 2162822, 2339358, 2372509, 2472424, 25251685, 25470321, 2592373, 2713493, 2714791, 2738071, 2753873, 2773937, 2775660, 3009023, 3243764, 3401602, 3790720, 6603618, 7981722, 8076946, 8199596, 8257988, 8295821, 8680410, 9169594, 9222764, 9452115, 9590153, 9600455		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemophilia B	Hemophilia b	Pubtator	10192459, 10381508, 10769754, 10942410, 11122097, 11122099, 11122404, 11380446, 12105230, 12588353, 12871416, 1346077, 1346483, 1346975, 1371869, 15009460, 15219198, 16270645, 16420569, 1675686, 17264403, 1907972, 1972560, 1986380, 2020563, 21410419, 2220823, 22271447, 22870602, 2303434, 2306516, 2352926, 24375831, 24656159, 2472424, 25315324, 25409372, 26023895, 26516624, 27109384, 2738071, 2741941, 2743975, 2752145, 2753873, 28007939, 28196793, 2821070, 2831715, 2846283, 2875754, 2878695, 2881949, 2902887, 2917196, 29211678, 29245009, 29246900, 2981590, 2992643, 29993188, 3001143, 3008893, 3029178, 3033024, 31219805, 3181127, 3243764, 3262389, 32766856, 33190257, 3416069, 3461460, 34626083, 3514676, 35314527, 35842956, 35857660, 36490302, 36787808, 36795372, 3790720, 38184202, 3965513, 4045960, 4078877, 6096810, 6194835, 6325506, 6329734, 6478059, 711853, 7915915, 7937052, 8178822, 8226948, 8304338, 8324220, 8434583, 8594556, 8602635, 8632006, 8701940, 9016521, 9092680, 9233568, 9399849, 9450791, 9525872, 9531344	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemophilia B	Hemophilia	LHGDN	12513796, 15590401, 15842381, 16322469, 17014892, 17308903, 17985356		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemophilia B	Hemophilia	GENOMICS_ENGLAND_DG	15921378		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemophilia B	Hemophilia	CLINGEN_DG	16643212, 25330515, 26612714, 26964564, 30210749, 3286010, 3416069, 9639513		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemophilia B	Hemophilia	CLINVAR_DG	18624698, 1864609, 1969838, 19699296, 2066105, 2198809, 22544209, 22639855, 23093250, 2472424, 25470321, 27824213, 28752769, 29993188		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemophilia B	Hemophilia	CTD_human_DG	2388855, 7062952		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemophilia B	Hemophilia b	Pubtator	8427961	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemophilia, NOS	Hemophilia	BEFREE	10365659, 1036844, 10469176, 11171549, 11547364, 11554929, 11735604, 11873243, 12463593, 12640573, 12871416, 15057309, 15479373, 16011585, 16474400, 1674433, 1683292, 17123389, 17266422, 18370215, 18374200, 18459950, 18600094, 18841277, 19603001, 20132333, 20590852, 21239794, 21396685, 2162822, 21771207, 22031860, 22137432, 22829631, 23233607, 23517072, 2372509, 2472424, 2563663, 26149016, 26960037, 26964564, 27061380, 2713493, 27405674, 27685947, 28039188, 28264199, 2831715, 28651975, 28750474, 28793786, 28984010, 29211678, 29334995, 29357868, 29517971, 29624465, 29845491, 29878653, 29895509, 30073913, 30146094, 30411401, 30507046, 30999657, 31069799, 31070517, 31267011, 31272859, 31517708, 31743722, 31815335, 31846168, 3487139, 3499681, 7101232, 8239704, 8318985, 8512923, 8518277, 8602635, 8865521, 9207793, 9590153		★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	11418471, 25315324, 26023895, 33082527, 34187575, 36787808, 40197980, 8226948, 9787168	Associate	★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	25409372, 29245009, 38625717	Inhibit	★☆☆☆☆ Found in Text Mining only
Hemorrhagic Disorders	Hemorrhagic Disorders	BEFREE	10942410, 16276463, 16684001, 2753873, 6603618		★☆☆☆☆ Found in Text Mining only
Hereditary Factor XI Deficiency	Hereditary Factor XI Deficiency	BEFREE	15456490		★☆☆☆☆ Found in Text Mining only
Hereditary Factor XI Deficiency	Hereditary Factor XI Deficiency	LHGDN	15842381		★☆☆☆☆ Found in Text Mining only
Hurthle Cell Tumor	Tumor	BEFREE	28261999		★☆☆☆☆ Found in Text Mining only
Hyperkinesis	Hyperkinesia	Pubtator	31219805	Associate	★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	11795424		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	2828023	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	2991115		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	28393470		★☆☆☆☆ Found in Text Mining only
Juvenile Myelomonocytic Leukemia	Myelomonocytic Leukemia	BEFREE	21681782		★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	BEFREE	25329069		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	9031081, 9639410		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	8946928		★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	2787798, 6090008		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	25981983, 30415263, 4040611		★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	34187575	Associate	★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	25981983, 4040611		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	8946928, 9031081		★☆☆☆☆ Found in Text Mining only
Macular dystrophy	Macular dystrophy	BEFREE	29168048		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 2	Major Affective Disorder	BEFREE	1980485, 7760986, 9132265		★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	CTD_human_DG	23056237		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	27105531, 28418883		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	25520033		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	20603238		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	28325302		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	21042764		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	28584022		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	10787193, 11344225, 12240753, 16331264, 16889486, 17891236, 17891249, 19147628, 19495791, 21878896, 22136268, 24811481, 24858900, 25333496, 25456951, 25627462, 26265449, 26354077, 27207655, 9841749		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11344225, 11443191, 12057919, 15297606, 18757433, 20046837, 20130073, 20603238, 22442268, 23837487, 24559275, 24794415, 26138095, 26572991, 27689252, 27864149, 28302441, 29552294, 29683529, 29731874, 31821747, 8875257, 9818027, 9889797		★☆☆☆☆ Found in Text Mining only
Mandibuloacral dysostosis	Mandibuloacral Dysostosis	BEFREE	21267004		★☆☆☆☆ Found in Text Mining only
Marfan Syndrome	Marfan syndrome	Pubtator	9525872	Associate	★☆☆☆☆ Found in Text Mining only
Medullary carcinoma	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	25465739		★☆☆☆☆ Found in Text Mining only
Medullary carcinoma of thyroid	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	25456951, 28089742, 28585679		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	11106272		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	24858900, 9622062		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	2991115		★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked	Mental retardation	BEFREE	3674751, 3967889		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	23323969		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	22664050		★☆☆☆☆ Found in Text Mining only
Mild hemophilia B	Hemophilia B	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mobius Syndrome	Mobius Syndrome	BEFREE	3674751		★☆☆☆☆ Found in Text Mining only
Moderately severe hemophilia B	Hemophilia B	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucopolysaccharidosis II	Mucopolysaccharidosis	BEFREE	3126700, 3674751		★☆☆☆☆ Found in Text Mining only
Multinodular goiter	Multinodular goiter	BEFREE	16405407, 24559275, 29108474		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	26935956, 29262596, 8946928		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	17003070		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	28530521		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Emery-Dreifuss	Emery-Dreifuss Muscular Dystrophy	BEFREE	1686773		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	9111168		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	8946928		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	12406910		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	19430707		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10208428, 11443191, 1381340, 14555660, 1457350, 15126554, 15188460, 15256053, 15375577, 16772343, 19495791, 20001716, 20854070, 21865371, 21947652, 24702198, 24973511, 25803323, 2594368, 26935956, 27105531, 27259715, 27623068, 27992500, 28315434, 28550398, 29200967, 29368294, 29435461, 29582677, 29886801, 29923169, 30026381, 30084677, 30506430, 30851890, 31042674, 31327063, 31616630, 31695609, 6090008, 8380100, 8658145, 8784097, 9052406, 9140104, 9639410, 9669285, 9811335, 9889797		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	BEFREE	10028310, 24106230		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	22160428		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	21691801		★☆☆☆☆ Found in Text Mining only
NEUROTICISM	Neuroticism	BEFREE	29104107		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	20400894		★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	21947652		★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	BEFREE	17156781		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	20603238		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	28325302		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	10646664, 10646882, 10690905, 10931090, 10934169, 11117782, 11443191, 11707626, 12383219, 12605035, 14555660, 15126554, 15184868, 15356021, 15687339, 16015630, 16889486, 18261626, 18406659, 19060924, 19495791, 2000227, 20012784, 20950194, 20951315, 21411301, 22690899, 23128507, 23461584, 24510380, 24702198, 24858900, 24957039, 25456951, 2594368, 27732329, 27997908, 28314770, 28374549, 28534687, 28558632, 28673327, 28740507, 28816539, 28920749, 29349484, 29489673, 29498921, 30084677, 30254191, 30289307, 30560718, 30648353, 31327063, 31461359, 7753554, 8275421, 8570194, 8634704, 8689603, 8780751, 8784097, 9067436, 9354893, 9516913, 9528832, 9589668, 9669285, 9811335, 9814501, 9889797		★☆☆☆☆ Found in Text Mining only
Paraneoplastic Syndromes	Paraneoplastic Syndromes	BEFREE	29446856		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	22651796, 23046827		★☆☆☆☆ Found in Text Mining only
Paroxysmal Nonkinesigenic Dyskinesia 1	Paroxysmal nonkinesigenic dyskinesia	BEFREE	11788678		★☆☆☆☆ Found in Text Mining only
Polyendocrinopathies, Autoimmune	Autoimmune Polyendocrinopathy	BEFREE	15540515		★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	BEFREE	17156781		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	21042764		★☆☆☆☆ Found in Text Mining only
Protein C Deficiency	Protein C Deficiency	BEFREE	8427961		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	18205865, 28100093, 28770513, 29557200, 29893222, 30174431, 30215632, 30345790, 30394141, 30924030		★☆☆☆☆ Found in Text Mining only
Psoriasis vulgaris	Psoriasis vulgaris	BEFREE	14707118		★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	BEFREE	11117523		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	27329764		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	8502481		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	11117523, 17569750, 18276743, 2692124		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	BEFREE	28889339		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	26722409		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	20153022		★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	BEFREE	30301136		★☆☆☆☆ Found in Text Mining only
Severe hemophilia B	Hemophilia B	Orphanet			★☆☆☆☆ Found in Text Mining only
Sheehan Syndrome	Sheehan Syndrome	BEFREE	27425780		★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	18205865		★☆☆☆☆ Found in Text Mining only
Spinal Cord Diseases	Spinal Cord Diseases	BEFREE	1537894		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	28150893, 29200967, 9140104		★☆☆☆☆ Found in Text Mining only
Thrombophilia	Thrombophilia	BEFREE	14521595, 19846852, 20539913, 23043073, 23197580		★☆☆☆☆ Found in Text Mining only
Thrombophilia	Thrombophilia	LHGDN	14521595		★☆☆☆☆ Found in Text Mining only
Thrombophilia	Thrombophilia	Pubtator	14521595	Associate	★☆☆☆☆ Found in Text Mining only
Thrombophilia	Thrombophilia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thrombophilia, X-Linked, Due To Factor Ix Defect	Thrombophilia, X-Linked	CLINVAR_DG	18624698, 1864609, 1969838, 19699296, 2066105, 2198809, 22544209, 22639855, 23093250, 2472424, 25470321, 27824213, 29993188		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombophilia, X-Linked, Due To Factor Ix Defect	Thrombophilia, X-Linked	UNIPROT_DG	19846852		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombophilia, X-Linked, Due To Factor Ix Defect	Thrombophilia, X-Linked	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombophilia, X-Linked, Due To Factor Ix Defect	Thrombophilia, X-Linked	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombosis	Thrombosis	Pubtator	11038326, 30801944, 31219805, 34813608	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, follicular	Thyroid cancer	BEFREE	27207655, 29731874		★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	10787193, 11344225, 12240753, 15126554, 15368067, 15375577, 15687339, 16331264, 16889486, 17891236, 17891249, 19147628, 19495791, 19878585, 21878896, 22136268, 23414134, 23746767, 24811481, 24858900, 25333496, 25456951, 25627462, 26265449, 26354077, 27207655, 29046324, 8784097, 9841749		★☆☆☆☆ Found in Text Mining only
Thyroid Gland Follicular Adenoma	Thyroid Gland Follicular Adenoma	BEFREE	1717926, 20130073, 28261999		★☆☆☆☆ Found in Text Mining only
Thyroid Gland Oncocytic Adenoma	Thyroid Gland Oncocytic Adenoma	BEFREE	28261999		★☆☆☆☆ Found in Text Mining only
Thyroid Hurthle Cell Carcinoma	Thyroid Carcinoma	BEFREE	26354077		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	11344225, 11443191, 11788678, 12114746, 12240753, 1381340, 15126554, 15368067, 16015630, 16331264, 16889486, 17891236, 17891249, 19147628, 19495791, 19766698, 21878896, 22136268, 24811481, 25333496, 25456951, 25627462, 26265449, 26354077, 27207655, 8275421, 9814501, 9841749, 9861322		★☆☆☆☆ Found in Text Mining only
Thyroid Nodule	Thyroid Nodule	BEFREE	11443191, 12057919, 16028414, 17381488, 21173509, 21411555, 22770943, 24074409, 25333496, 28537891, 28616727, 31461359		★☆☆☆☆ Found in Text Mining only
Tomaculous neuropathy	Hereditary neuropathy with liability to pressure palsies	Pubtator	12588353	Associate	★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	2995232		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	30563755		★☆☆☆☆ Found in Text Mining only
Undifferentiated carcinoma	Carcinoma	BEFREE	15368067		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	1904059	Associate	★☆☆☆☆ Found in Text Mining only
Venous Thrombosis	Venous thrombosis	Pubtator	10845896, 19286883, 19407317	Associate	★☆☆☆☆ Found in Text Mining only
Venous Thrombosis	Venous thrombosis	Pubtator	33090602	Stimulate	★☆☆☆☆ Found in Text Mining only
von Willebrand Disease	von Willebrand disorder	BEFREE	12781551, 27148841, 28388959, 28750474, 29388750		★☆☆☆☆ Found in Text Mining only