F8 (coagulation factor VIII)

Gene

• Entrez ID: 2157
• Gene name: Coagulation factor VIII
• Gene symbol: F8
• Synonyms (NCBI Gene): AHF, DXS1253E, F8B, F8C, FVIII, HEMA, THPH13
• Chromosome: X
• Chromosome location: Xq28
• Summary: This gene encodes coagulation factor VIII, which participates in the intrinsic pathway of blood coagulation; factor VIII is a cofactor for factor IXa which, in the presence of Ca+2 and phospholipids, converts factor X to the activated form Xa. This gene

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs2228152	T>A,C	Pathogenic, likely-benign	Coding sequence variant, missense variant, genic upstream transcript variant, stop gained
rs28933668	G>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant, genic upstream transcript variant
rs28933669	A>G	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs28933670	A>C,G	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs28933671	T>C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs28933672	C>A	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs28933673	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs28933674	C>T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs28933675	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs28933676	T>G	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs28933677	G>A	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs28933678	C>A,T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs28933679	T>C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs28933680	G>C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs28933681	C>T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs28933682	T>C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs28935203	T>A	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs28935499	C>A,T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs28937272	T>A,C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs28937282	G>A	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs28937285	C>T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs28937287	A>C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs28937289	C>T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs28937294	C>A,T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs34371500	C>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant, genic upstream transcript variant
rs111033613	G>A,T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs111033614	C>T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs111033615	C>T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs111033616	A>T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852354	G>A	Pathogenic	Coding sequence variant, stop gained
rs137852355	G>A,C	Pathogenic	Coding sequence variant, stop gained, missense variant
rs137852356	G>A,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained, genic upstream transcript variant
rs137852357	G>A	Pathogenic	Coding sequence variant, stop gained
rs137852358	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs137852359	T>C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852360	C>A,G,T	Pathogenic	Coding sequence variant, missense variant
rs137852361	G>A,C	Pathogenic	Coding sequence variant, stop gained, missense variant, genic upstream transcript variant
rs137852362	T>C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852363	G>A,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained, genic upstream transcript variant
rs137852364	G>A	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852365	A>G	Pathogenic	Coding sequence variant, missense variant
rs137852366	C>G,T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852367	G>A	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852368	G>A,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained, genic upstream transcript variant
rs137852369	T>C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852371	C>A,G	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852372	G>A	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs137852373	C>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant, genic upstream transcript variant
rs137852374	G>A	Pathogenic	Coding sequence variant, missense variant
rs137852375	A>G	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852376	A>G	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852377	A>C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852378	T>A	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852379	C>A,T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852380	C>T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852381	C>A	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852382	A>G,T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852383	A>C,T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852384	T>G	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852385	T>C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852386	A>C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852387	C>G	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852388	T>G	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852389	T>C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852390	T>C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852391	G>A	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852392	C>A,T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852393	G>A	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852394	C>T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852395	T>G	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852396	T>A,C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852397	C>A	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852398	C>T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852399	C>T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852400	A>C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852401	G>A	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852402	T>A	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852403	C>A,T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852404	G>A	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852405	A>G	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852406	T>C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852407	A>G,T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852408	A>T	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs137852409	C>T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852410	C>G	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852413	A>G	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852414	C>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant, genic upstream transcript variant
rs137852415	C>T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852416	G>A	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852417	G>A,C	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852418	C>G,T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852419	T>C	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852420	T>C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852421	C>A	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs137852422	G>T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852424	G>A,C,T	Pathogenic	Stop gained, missense variant, synonymous variant, coding sequence variant, genic upstream transcript variant
rs137852425	C>A	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852426	C>G,T	Pathogenic	Coding sequence variant, stop gained, missense variant, genic upstream transcript variant
rs137852427	T>C,G	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852428	G>A	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852429	T>C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852430	A>G	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852431	C>T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852432	G>C	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs137852433	G>A	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852434	A>G	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852435	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852436	C>T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852439	G>A,C,T	Pathogenic, uncertain-significance	Stop gained, missense variant, synonymous variant, coding sequence variant, genic upstream transcript variant
rs137852440	C>T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852441	C>G	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852442	C>T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852443	G>A,C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852444	G>A,T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852445	G>A	Likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852446	G>A	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs137852448	G>A	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs137852449	C>T	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs137852450	C>A	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852451	G>A	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852452	G>A	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs137852453	G>A	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852454	T>C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852455	A>G	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852456	G>A,T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852457	T>A,C	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852458	A>C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852459	T>C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852460	G>T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852461	C>T	Pathogenic	Coding sequence variant, missense variant
rs137852462	G>T	Pathogenic	Coding sequence variant, missense variant
rs137852463	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs137852464	G>A	Pathogenic	Coding sequence variant, missense variant
rs137852465	C>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs137852466	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs137852467	G>A	Pathogenic	Coding sequence variant, missense variant
rs137852468	C>G	Pathogenic	Coding sequence variant, missense variant
rs137852469	C>A	Pathogenic	Coding sequence variant, missense variant
rs137852470	T>C	Pathogenic	Coding sequence variant, missense variant
rs137852471	G>A,C	Pathogenic	Coding sequence variant, stop gained, missense variant
rs137852472	G>A	Pathogenic	Coding sequence variant, missense variant
rs137852473	G>A,C	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs137852474	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs137852475	A>C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852476	T>C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs139526001	T>A	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs151202877	C>T	Likely-pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs267606791	C>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs369414658	C>T	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs375241473	T>C	Pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs387906429	C>T	Pathogenic	Genic upstream transcript variant, intron variant
rs387906430	A>G	Pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs387906431	CATT>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs387906432	G>A	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs387906433	TT>-,TTT	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs387906434	AACA>-	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs387906435	AC>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs387906436	CT>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs387906437	A>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs387906438	C>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs387906439	C>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs387906440	TC>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs387906441	TT>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs387906442	C>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs387906443	A>G	Pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs387906444	T>C	Pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs387906445	->C	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs387906446	A>G	Pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs387906447	T>-,TT	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs387906448	CT>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs387906449	TT>-,TTT	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs387906450	T>-,TT	Likely-pathogenic, pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs387906451	G>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs387906452	ATCT>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs387906453	AAGAG>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs387906454	TTCT>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs387906455	T>-,TT	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs387906456	G>-	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs387906457	T>A	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs387906458	->A	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs387906459	->T	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs387906460	T>-,TT	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs387906461	C>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs387906462	GA>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs387906463	TT>-	Pathogenic	Frameshift variant, coding sequence variant
rs387906464	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs387906465	CT>-	Pathogenic	Frameshift variant, coding sequence variant
rs387906466	GATTT>-	Pathogenic	Frameshift variant, coding sequence variant
rs397514036	T>-,TT	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs781797728	T>A,C	Pathogenic	Coding sequence variant, missense variant
rs781928603	AAAAAAAAAAAAA>-,A,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA	Pathogenic	Intron variant, genic upstream transcript variant
rs781943956	G>A	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs782158761	T>C	Uncertain-significance, likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs782193428	A>G	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs782198570	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs782216863	A>G	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs782473762	C>A,T	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs782657516	T>C	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs782668199	A>C,G	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, synonymous variant, missense variant
rs782733685	C>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, synonymous variant
rs782763245	G>A,T	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant, synonymous variant
rs886039906	->TTGGTTAT	Likely-pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs942909873	C>T	Pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs1047644991	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1057521074	C>T	Pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs1060499784	C>T	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained
rs1189348665	A>G	Likely-pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs1190705187	C>A,T	Likely-pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs1195283929	C>T	Likely-pathogenic	Genic upstream transcript variant, intron variant
rs1215569190	C>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1216878586	AT>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1229954426	C>T	Likely-pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs1232517683	C>T	Likely-pathogenic	Synonymous variant, coding sequence variant, genic upstream transcript variant
rs1261929809	C>T	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1273080258	T>A,C	Pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1297584118	T>A	Pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained
rs1305924233	T>A,G	Likely-pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs1312347909	T>C	Pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs1359096117	G>A,T	Likely-pathogenic	Genic upstream transcript variant, stop gained, missense variant, coding sequence variant
rs1375894900	TTCT>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs1417520379	C>T	Pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs1448187077	A>G	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs1454692506	C>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs1472169963	G>C	Pathogenic	Coding sequence variant, missense variant
rs1482306571	C>T	Likely-pathogenic	Intron variant, genic upstream transcript variant
rs1486435006	A>G	Likely-pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs1490417405	C>T	Pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs1557271042	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1557278259	C>T	Pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs1557278411	G>T	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs1557278778	TT>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs1557280964	A>T	Likely-pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs1557281265	T>C	Pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs1557281954	G>T	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs1557285171	C>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs1569559514	CTCTT>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1569559516	T>C	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1569559523	G>A	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1569559755	C>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1569559758	T>G	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1569559881	G>C	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1569559955	A>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1603430929	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1603431479	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1603431506	A>G	Pathogenic	Coding sequence variant, missense variant
rs1603431508	G>A	Pathogenic	Coding sequence variant, missense variant
rs1603431511	G>A	Pathogenic	Coding sequence variant, missense variant
rs1603431512	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1603431561	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1603431562	A>C	Pathogenic	Coding sequence variant, missense variant
rs1603432783	G>C	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1603432784	A>T	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1603432906	A>G	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1603432908	C>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1603432913	C>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1603432970	T>G	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1603432979	C>G	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1603432996	C>T	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1603433713	A>G	Likely-pathogenic	Genic upstream transcript variant, splice donor variant
rs1603433715	G>A	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, synonymous variant
rs1603433729	C>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1603433733	C>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs1603433756	->G	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1603433779	TTTTGAG>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1603433803	AT>-	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1603434460	C>G	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1603434697	A>C	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1603434698	T>-	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1603434863	A>G	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1603435026	T>C	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1603435027	G>C	Likely-pathogenic	Genic upstream transcript variant, intron variant
rs1603435217	A>C	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1603435220	GT>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1603435260	C>T	Pathogenic	Genic upstream transcript variant, splice donor variant
rs1603435281	->T	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1603435286	T>G	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1603435395	G>C	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1603436123	GGTGCTGAATTTGGAAGACCCTGAGGATTGTTGAGCAGGTGTGTACATACCTGGCAGAGACCTGTTTACATAACCATTGACTGTGTGCATTTTAGGCCAGGCCCGAGCAGATGCAGCATCCCTATCCTGCATCAAGGAGTTCTTTGTTTCTGAGTGCCAACTTTTCCCTGATGAGAGAGAAGGCAAAGATAGAGTCAGCTAAGCATGTGTCTCATGA>-	Likely-pathogenic	Splice acceptor variant, coding sequence variant, splice donor variant, intron variant, genic upstream transcript variant
rs1603436217	A>C	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1603436218	C>T	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1603436424	->G	Pathogenic	Coding sequence variant, genic upstream transcript variant
rs1603436426	G>T	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1603436436	T>G	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1603436638	A>G	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1603436639	T>C	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1603436770	G>C	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1603437863	TGCAC>-	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT735098	hsa-miR-19b-3p	Luciferase reporter assay, Western blotting, qRT-PCR	32789639
MIRT735099	hsa-miR-186-5p	Luciferase reporter assay, Western blotting, qRT-PCR	32850803
MIRT735906	hsa-miR-30c-5p	Luciferase reporter assay, Western blotting, Immunofluorescence, qRT-PCR, ELISA	31785023
MIRT974661	hsa-miR-134	CLIP-seq
MIRT974662	hsa-miR-3118	CLIP-seq
MIRT974663	hsa-miR-3145-5p	CLIP-seq
MIRT974664	hsa-miR-3152-5p	CLIP-seq
MIRT974665	hsa-miR-3164	CLIP-seq
MIRT974666	hsa-miR-3188	CLIP-seq
MIRT974667	hsa-miR-3682-3p	CLIP-seq
MIRT974668	hsa-miR-3691-5p	CLIP-seq
MIRT974669	hsa-miR-4318	CLIP-seq
MIRT974670	hsa-miR-4433	CLIP-seq
MIRT974671	hsa-miR-4459	CLIP-seq
MIRT974672	hsa-miR-4504	CLIP-seq
MIRT974673	hsa-miR-4693-5p	CLIP-seq
MIRT974674	hsa-miR-4695-5p	CLIP-seq
MIRT974675	hsa-miR-4752	CLIP-seq
MIRT974676	hsa-miR-4760-3p	CLIP-seq
MIRT974677	hsa-miR-4768-3p	CLIP-seq
MIRT974678	hsa-miR-4774-3p	CLIP-seq
MIRT974679	hsa-miR-508-3p	CLIP-seq
MIRT974680	hsa-miR-542-3p	CLIP-seq
MIRT974681	hsa-miR-579	CLIP-seq
MIRT974682	hsa-miR-664	CLIP-seq
MIRT974683	hsa-miR-758	CLIP-seq
MIRT974684	hsa-miR-892a	CLIP-seq
MIRT1988787	hsa-miR-297	CLIP-seq
MIRT1988788	hsa-miR-3149	CLIP-seq
MIRT1988789	hsa-miR-4307	CLIP-seq
MIRT1988790	hsa-miR-567	CLIP-seq
MIRT1988791	hsa-miR-592	CLIP-seq
MIRT1988792	hsa-miR-597	CLIP-seq
MIRT2223179	hsa-miR-1321	CLIP-seq
MIRT2223180	hsa-miR-298	CLIP-seq
MIRT974663	hsa-miR-3145-5p	CLIP-seq
MIRT974664	hsa-miR-3152-5p	CLIP-seq
MIRT2223181	hsa-miR-3158-5p	CLIP-seq
MIRT2223182	hsa-miR-3192	CLIP-seq
MIRT2223183	hsa-miR-3692	CLIP-seq
MIRT2223184	hsa-miR-4270	CLIP-seq
MIRT2223185	hsa-miR-4300	CLIP-seq
MIRT2223186	hsa-miR-4314	CLIP-seq
MIRT2223187	hsa-miR-4441	CLIP-seq
MIRT2223188	hsa-miR-4646-5p	CLIP-seq
MIRT2223189	hsa-miR-4728-5p	CLIP-seq
MIRT2223190	hsa-miR-4739	CLIP-seq
MIRT2223191	hsa-miR-4756-5p	CLIP-seq
MIRT974678	hsa-miR-4774-3p	CLIP-seq
MIRT974679	hsa-miR-508-3p	CLIP-seq
MIRT2223192	hsa-miR-646	CLIP-seq
MIRT2223193	hsa-miR-920	CLIP-seq
MIRT974663	hsa-miR-3145-5p	CLIP-seq
MIRT974664	hsa-miR-3152-5p	CLIP-seq
MIRT974678	hsa-miR-4774-3p	CLIP-seq
MIRT2527057	hsa-miR-1207-5p	CLIP-seq
MIRT2527058	hsa-miR-1252	CLIP-seq
MIRT2527059	hsa-miR-1273e	CLIP-seq
MIRT2527060	hsa-miR-129-5p	CLIP-seq
MIRT2527061	hsa-miR-146b-3p	CLIP-seq
MIRT2527062	hsa-miR-203	CLIP-seq
MIRT2527063	hsa-miR-2467-5p	CLIP-seq
MIRT2527064	hsa-miR-3127-5p	CLIP-seq
MIRT2527065	hsa-miR-3135	CLIP-seq
MIRT2527066	hsa-miR-3143	CLIP-seq
MIRT2527067	hsa-miR-3150b-3p	CLIP-seq
MIRT974664	hsa-miR-3152-5p	CLIP-seq
MIRT2527068	hsa-miR-3160-3p	CLIP-seq
MIRT2527069	hsa-miR-3160-5p	CLIP-seq
MIRT2527070	hsa-miR-3173-5p	CLIP-seq
MIRT974666	hsa-miR-3188	CLIP-seq
MIRT2527071	hsa-miR-3202	CLIP-seq
MIRT2527072	hsa-miR-34a	CLIP-seq
MIRT2527073	hsa-miR-34c-5p	CLIP-seq
MIRT2527074	hsa-miR-3665	CLIP-seq
MIRT2527075	hsa-miR-375	CLIP-seq
MIRT2527076	hsa-miR-383	CLIP-seq
MIRT2527077	hsa-miR-3921	CLIP-seq
MIRT2527078	hsa-miR-3975	CLIP-seq
MIRT2527079	hsa-miR-4251	CLIP-seq
MIRT2527080	hsa-miR-4254	CLIP-seq
MIRT2223184	hsa-miR-4270	CLIP-seq
MIRT2527081	hsa-miR-4279	CLIP-seq
MIRT2527082	hsa-miR-4308	CLIP-seq
MIRT2527083	hsa-miR-4329	CLIP-seq
MIRT2527084	hsa-miR-4419a	CLIP-seq
MIRT2223187	hsa-miR-4441	CLIP-seq
MIRT2527085	hsa-miR-449a	CLIP-seq
MIRT2527086	hsa-miR-449b	CLIP-seq
MIRT2527087	hsa-miR-4510	CLIP-seq
MIRT2527088	hsa-miR-4522	CLIP-seq
MIRT2527089	hsa-miR-4533	CLIP-seq
MIRT2527090	hsa-miR-4633-3p	CLIP-seq
MIRT2527091	hsa-miR-4653-5p	CLIP-seq
MIRT2527092	hsa-miR-4689	CLIP-seq
MIRT2527093	hsa-miR-4693-3p	CLIP-seq
MIRT2527094	hsa-miR-4714-5p	CLIP-seq
MIRT2527095	hsa-miR-4736	CLIP-seq
MIRT2527096	hsa-miR-4763-3p	CLIP-seq
MIRT2527097	hsa-miR-4772-5p	CLIP-seq
MIRT974678	hsa-miR-4774-3p	CLIP-seq
MIRT2527098	hsa-miR-4779	CLIP-seq
MIRT2527099	hsa-miR-4784	CLIP-seq
MIRT2527100	hsa-miR-4804-3p	CLIP-seq
MIRT2527101	hsa-miR-485-5p	CLIP-seq
MIRT2527102	hsa-miR-490-3p	CLIP-seq
MIRT2527103	hsa-miR-494	CLIP-seq
MIRT2527104	hsa-miR-649	CLIP-seq
MIRT2527105	hsa-miR-657	CLIP-seq
MIRT2527106	hsa-miR-764	CLIP-seq
MIRT2527107	hsa-miR-874	CLIP-seq
MIRT2527059	hsa-miR-1273e	CLIP-seq
MIRT2527060	hsa-miR-129-5p	CLIP-seq
MIRT2527061	hsa-miR-146b-3p	CLIP-seq
MIRT2527064	hsa-miR-3127-5p	CLIP-seq
MIRT2527065	hsa-miR-3135	CLIP-seq
MIRT2527067	hsa-miR-3150b-3p	CLIP-seq
MIRT974664	hsa-miR-3152-5p	CLIP-seq
MIRT2527068	hsa-miR-3160-3p	CLIP-seq
MIRT2527069	hsa-miR-3160-5p	CLIP-seq
MIRT2527070	hsa-miR-3173-5p	CLIP-seq
MIRT2527071	hsa-miR-3202	CLIP-seq
MIRT2527074	hsa-miR-3665	CLIP-seq
MIRT2527075	hsa-miR-375	CLIP-seq
MIRT2527076	hsa-miR-383	CLIP-seq
MIRT2527077	hsa-miR-3921	CLIP-seq
MIRT2527079	hsa-miR-4251	CLIP-seq
MIRT2527080	hsa-miR-4254	CLIP-seq
MIRT2223184	hsa-miR-4270	CLIP-seq
MIRT2527081	hsa-miR-4279	CLIP-seq
MIRT2527082	hsa-miR-4308	CLIP-seq
MIRT2527083	hsa-miR-4329	CLIP-seq
MIRT2527084	hsa-miR-4419a	CLIP-seq
MIRT2223187	hsa-miR-4441	CLIP-seq
MIRT2527087	hsa-miR-4510	CLIP-seq
MIRT2527088	hsa-miR-4522	CLIP-seq
MIRT2527089	hsa-miR-4533	CLIP-seq
MIRT2527090	hsa-miR-4633-3p	CLIP-seq
MIRT2527091	hsa-miR-4653-5p	CLIP-seq
MIRT2527092	hsa-miR-4689	CLIP-seq
MIRT2527093	hsa-miR-4693-3p	CLIP-seq
MIRT2527094	hsa-miR-4714-5p	CLIP-seq
MIRT2527097	hsa-miR-4772-5p	CLIP-seq
MIRT974678	hsa-miR-4774-3p	CLIP-seq
MIRT2527098	hsa-miR-4779	CLIP-seq
MIRT2527099	hsa-miR-4784	CLIP-seq
MIRT2527103	hsa-miR-494	CLIP-seq
MIRT2527105	hsa-miR-657	CLIP-seq
MIRT2527107	hsa-miR-874	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
APC	Unknown	12010799
CEBPB	Unknown	10959692
NFKB1	Unknown	10959692
RELA	Unknown	10959692

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005507	Function	Copper ion binding	IEA
GO:0005515	Function	Protein binding	IPI	7756647, 8562925, 18492805, 26157780, 27749002, 32814053
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:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005796	Component	Golgi lumen	TAS
GO:0005886	Component	Plasma membrane	TAS
GO:0006953	Process	Acute-phase response	IEA
GO:0007596	Process	Blood coagulation	IEA
GO:0007596	Process	Blood coagulation	TAS	8275087
GO:0007597	Process	Blood coagulation, intrinsic pathway	IBA
GO:0007599	Process	Hemostasis	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0030134	Component	COPII-coated ER to Golgi transport vesicle	IEA
GO:0030134	Component	COPII-coated ER to Golgi transport vesicle	TAS
GO:0031093	Component	Platelet alpha granule lumen	IEA
GO:0031093	Component	Platelet alpha granule lumen	TAS
GO:0033116	Component	Endoplasmic reticulum-Golgi intermediate compartment membrane	IEA
GO:0033116	Component	Endoplasmic reticulum-Golgi intermediate compartment membrane	TAS
GO:0046872	Function	Metal ion binding	IEA

Other IDs

• MIM: 300841
• HGNC: 3546
• e!Ensembl: ENSG00000185010

Protein

• UniProt ID: P00451
• Protein name: Coagulation factor VIII (Antihemophilic factor) (AHF) (Procoagulant component) [Cleaved into: Factor VIIIa heavy chain, 200 kDa isoform; Factor VIIIa heavy chain, 92 kDa isoform; Factor VIII B chain; Factor VIIIa light chain]
• Protein function: Factor VIII, along with calcium and phospholipid, acts as a cofactor for F9/factor IXa when it converts F10/factor X to the activated form, factor Xa.
• PDB: 1CFG, 1D7P, 1FAC, 1IQD, 2R7E, 3CDZ, 3HNB, 3HNY, 3HOB, 3J2Q, 3J2S, 4BDV, 4KI5, 4PT6, 4XZU, 5K8D, 6MF0, 6MF2, 7K66, 7KBT, 7KWO, 8G6I, 8TY1, 9D5D
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07732	Cu-oxidase_3	88 → 202	Multicopper oxidase	Domain
  PF00394	Cu-oxidase	218 → 349	Multicopper oxidase	Domain
  PF07732	Cu-oxidase_3	444 → 577	Multicopper oxidase	Domain
  PF07731	Cu-oxidase_2	1915 → 2039	Multicopper oxidase	Domain
  PF00754	F5_F8_type_C	2055 → 2185	F5/8 type C domain	Domain
  PF00754	F5_F8_type_C	2208 → 2342	F5/8 type C domain	Domain

• Sequence:

  MQIELSTCFFLCLLRFCFSATRRYYLGAVELSWDYMQSDLGELPVDARFPPRVPKSFPFN
  TSVVYKKTLFVEFTDHLFNIAKPRPPWMGLLGPTIQAEVYDTVVITLKNMASHPVSLHAV
  GVSYWKASEGAEYDDQTSQREKEDDKVFPGGSHTYVWQVLKENGPMASDPLCLTYSYLSH
  VDLVKDLNSGLIGALLVCREGSLAKEKTQTLHKFILLFAVFDEGKSWHSETKNSLMQDRD
  AASARAWPKMHTVNGYVNRSLPGLIGCHRKSVYWHVIGMGTTPEVHSIFLEGHTFLVRNH
  RQASLEISPITFLTAQTLLMDLGQFLLFCHISSHQHDGMEAYVKVDSCPEEPQLRMKNNE
  EAEDYDDDLTDSEMDVVRFDDDNSPSFIQIRSVAKKHPKTWVHYIAAEEEDWDYAPLVLA
  PDDRSYKSQYLNNGPQRIGRKYKKVRFMAYTDETFKTREAIQHESGILGPLLYGEVGDTL
  LIIFKNQASRPYNIYPHGITDVRPLYSRRLPKGVKHLKDFPILPGEIFKYKWTVTVEDGP
  TKSDPRCLTRYYSSFVNMERDLASGLIGPLLICYKESVDQRGNQIMSDKRNVILFSVFDE
  NRSWYLTENIQRFLPNPAGVQLEDPEFQASNIMHSINGYVFDSLQLSVCLHEVAYWYILS
  IGAQTDFLSVFFSGYTFKHKMVYEDTLTLFPFSGETVFMSMENPGLWILGCHNSDFRNRG
  MTALLKVSSCDKNTGDYYEDSYEDISAYLLSKNNAIEPRSFSQNSRHPSTRQKQFNATTI
  PENDIEKTDPWFAHRTPMPKIQNVSSSDLLMLLRQSPTPHGLSLSDLQEAKYETFSDDPS
  PGAIDSNNSLSEMTHFRPQLHHSGDMVFTPESGLQLRLNEKLGTTAATELKKLDFKVSST
  SNNLISTIPSDNLAAGTDNTSSLGPPSMPVHYDSQLDTTLFGKKSSPLTESGGPLSLSEE
  NNDSKLLESGLMNSQESSWGKNVSSTESGRLFKGKRAHGPALLTKDNALFKVSISLLKTN
  KTSNNSATNRKTHIDGPSLLIENSPSVWQNILESDTEFKKVTPLIHDRMLMDKNATALRL
  NHMSNKTTSSKNMEMVQQKKEGPIPPDAQNPDMSFFKMLFLPESARWIQRTHGKNSLNSG
  QGPSPKQLVSLGPEKSVEGQNFLSEKNKVVVGKGEFTKDVGLKEMVFPSSRNLFLTNLDN
  LHENNTHNQEKKIQEEIEKKETLIQENVVLPQIHTVTGTKNFMKNLFLLSTRQNVEGSYD
  GAYAPVLQDFRSLNDSTNRTKKHTAHFSKKGEEENLEGLGNQTKQIVEKYACTTRISPNT
  SQQNFVTQRSKRALKQFRLPLEETELEKRIIVDDTSTQWSKNMKHLTPSTLTQIDYNEKE
  KGAITQSPLSDCLTRSHSIPQANRSPLPIAKVSSFPSIRPIYLTRVLFQDNSSHLPAASY
  RKKDSGVQESSHFLQGAKKNNLSLAILTLEMTGDQREVGSLGTSATNSVTYKKVENTVLP
  KPDLPKTSGKVELLPKVHIYQKDLFPTETSNGSPGHLDLVEGSLLQGTEGAIKWNEANRP
  GKVPFLRVATESSAKTPSKLLDPLAWDNHYGTQIPKEEWKSQEKSPEKTAFKKKDTILSL
  NACESNHAIAAINEGQNKPEIEVTWAKQGRTERLCSQNPPVLKRHQREITRTTLQSDQEE
  IDYDDTISVEMKKEDFDIYDEDENQSPRSFQKKTRHYFIAAVERLWDYGMSSSPHVLRNR
  AQSGSVPQFKKVVFQEFTDGSFTQPLYRGELNEHLGLLGPYIRAEVEDNIMVTFRNQASR
  PYSFYSSLISYEEDQRQGAEPRKNFVKPNETKTYFWKVQHHMAPTKDEFDCKAWAYFSDV
  DLEKDVHSGLIGPLLVCHTNTLNPAHGRQVTVQEFALFFTIFDETKSWYFTENMERNCRA
  PCNIQMEDPTFKENYRFHAINGYIMDTLPGLVMAQDQRIRWYLLSMGSNENIHSIHFSGH
  VFTVRKKEEYKMALYNLYPGVFETVEMLPSKAGIWRVECLIGEHLHAGMSTLFLVYSNKC
  QTPLGMASGHIRDFQITASGQYGQWAPKLARLHYSGSINAWSTKEPFSWIKVDLLAPMII
  HGIKTQGARQKFSSLYISQFIIMYSLDGKKWQTYRGNSTGTLMVFFGNVDSSGIKHNIFN
  PPIIARYIRLHPTHYSIRSTLRMELMGCDLNSCSMPLGMESKAISDAQITASSYFTNMFA
  TWSPSKARLHLQGRSNAWRPQVNNPKEWLQVDFQKTMKVTGVTTQGVKSLLTSMYVKEFL
  ISSSQDGHQWTLFFQNGKVKVFQGNQDSFTPVVNSLDPPLLTRYLRIHPQSWVHQIALRM
  EVLGCEAQDLY

• Sequence length: 2351

Pathways

KEGG:

Complement and coagulation cascades

Reactome:

Platelet degranulation
Intrinsic Pathway of Fibrin Clot Formation
Common Pathway of Fibrin Clot Formation
COPII-mediated vesicle transport
Cargo concentration in the ER

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Abnormal bleeding	Pathogenic; Likely pathogenic	rs151202877, rs2073030462	RCV000852151 RCV001270538	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Abnormality of coagulation	Likely pathogenic; Pathogenic	rs137852435, rs111033614, rs782158761, rs1047644991, rs1603431508	RCV000851590 RCV000851813 RCV000851605 RCV000851860 RCV000852190	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
F8-related disorder	Pathogenic; Likely pathogenic	rs137852394, rs2073548872, rs137852403, rs137852404, rs137852419, rs28937285, rs111033614, rs137852442, rs2523977122, rs1301600876, rs2523977108, rs2523839448, rs1412892301, rs2523882193, rs2523879905, rs782198570, rs369414658, rs375241473, rs1603435395	RCV003398478 RCV003934820 RCV004745151 RCV003415685 RCV003934821 RCV004745152 RCV003914826 RCV003430635 RCV003397416 RCV003391546 RCV003408569 RCV003393027 RCV003414436 RCV003983365 RCV003907408 RCV003392221 RCV004745431 RCV004745578 RCV003396339	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
FACTOR VIII (EAST HARTFORD)	Pathogenic	rs111033613	RCV000010827	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
FACTOR VIII (OKAYAMA)	Pathogenic	rs28935499	RCV000010823	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial aortopathy	Pathogenic	rs137852428	RCV004540992	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary factor IX deficiency disease	Pathogenic; Likely pathogenic	rs137852358, rs28935499, rs137852360, rs137852394, rs137852405, rs137852414, rs137852416, rs137852424, rs137852428, rs137852435, rs137852436, rs387906450, rs28933675, rs137852465, rs137852469, rs137852472, rs369414658, rs1490417405, rs375241473, rs1603430929, rs1603431479, rs1603431506, rs1603431512, rs781797728, rs1603431561, rs1603431562, rs1603432906, rs1603432908, rs1273080258, rs1603432970, rs1603433715, rs1603433756, rs1603433803, rs1359096117, rs1603434460, rs1603434697, rs1603434698, rs782193428, rs1603434863, rs139526001, rs1603435217, rs1603435281, rs1603435286, rs1603435395, rs781943956, rs1603436426, rs1603436436, rs1261929809, rs1603433713, rs1603436123	RCV000852189 RCV000852002 RCV000851861 RCV000851946 RCV000852250 RCV000851700 RCV000852048 RCV000852054 RCV000851933 RCV000851937 RCV000852072 RCV000851976 RCV000851817 RCV000852179 RCV000851849 RCV000851613 RCV000851606 RCV000852168 RCV000851582 RCV000851858 RCV000851852 RCV000851610 RCV000852184 RCV000851608 RCV000851843 RCV000851842 RCV000852173 RCV000852172 RCV000852165 RCV000852163 RCV000852146 RCV000851785 RCV000852113 RCV000851936 RCV000851735 RCV000852066 RCV000852065 RCV000852053 RCV000851714 RCV000851710 RCV000852045 RCV000851687 RCV000851650 RCV000851962 RCV000851921 RCV000852202 RCV000851947 RCV000852132 RCV000852028 RCV000852147 RCV000852265	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary factor VIII deficiency disease	Pathogenic; Likely pathogenic	rs782548763, rs1273763950, rs2123996454, rs2124050215, rs2073189135, rs2124140985, rs2124148856, rs2124148911, rs2123997081, rs2073315379, rs2124134352, rs1321311878, rs1464962436, rs2124050272, rs387906450, rs2124082382, rs2124000594, rs1444273117, rs2124099224, rs2148568062, rs1475873048, rs1168919288, rs1378662017, rs2124131338, rs1384374956, rs137852396, rs2148555597, rs2148584915, rs2124105898, rs2123994187, rs2124146053, rs1377354928, rs782176982, rs2123997870, rs2123993603, rs2124141140, rs2123997982, rs2073313804, rs1314906579, rs2124174458, rs2148567338, rs2124134359, rs2124053251, rs2124048012, rs1362305882, rs137852413, rs2124174443, rs2124054281, rs2124105158, rs2123994155, rs2148555575, rs1342455699, rs2124052011, rs2124106062, rs2073029867, rs2124082414, rs2073444412, rs2124094420, rs1401805753, rs137852474, rs2072694107, rs1444225681, rs1603436436, rs2073621465, rs1603432913, rs2124046974, rs1255271151, rs2123996355, rs2124109849, rs2073420861, rs2124106016, rs1046670041, rs2123993600, rs1218576358, rs2523954426, rs1347629116, rs2073181877, rs1557275595, rs2523884149, rs2523933185, rs2523977029, rs1416238727, rs2073620915, rs2523932916, rs387906460, rs2073012337, rs1409681779, rs2523885415, rs2523883814, rs2073549219, rs2523883958, rs2523887288, rs2523951206, rs2523876957, rs1302660801, rs1603434460, rs137852354, rs137852355, rs137852356, rs137852357, rs137852358, rs137852359, rs137852360, rs28937294, rs28935499, rs137852361, rs111033613, rs28935203, rs137852362, rs137852363, rs137852364, rs137852365, rs137852366, rs137852367, rs137852368, rs137852369, rs387906430, rs137852371, rs387906431, rs137852372, rs137852373, rs137852374, rs137852375, rs137852376, rs387906432, rs137852377, rs137852378, rs2124149047, rs387906433, rs387906434, rs387906435, rs2124134457, rs137852380, rs137852381, rs137852382, rs137852383, rs137852384, rs137852385, rs137852386, rs137852387, rs137852389, rs137852390, rs137852392, rs137852393, rs137852394, rs137852395, rs137852397, rs387906436, rs2124131475, rs2073548872, rs137852398, rs34371500, rs137852399, rs387906437, rs137852400, rs137852401, rs137852402, rs137852403, rs387906438, rs137852404, rs137852405, rs137852406, rs387906439, rs137852407, rs137852408, rs137852409, rs137852410, rs387906440, rs28933668, rs28933669, rs387906441, rs28933670, rs28933671, rs28933672, rs387906442, rs28937272, rs111033616, rs387906443, rs387906444, rs137852414, rs2124099163, rs1414679955, rs387906445, rs137852415, rs137852416, rs137852417, rs137852418, rs137852419, rs137852420, rs137852421, rs28937282, rs137852422, rs387906446, rs137852424, rs137852425, rs137852426, rs137852427, rs137852428, rs137852429, rs2124090120, rs137852430, rs137852431, rs137852432, rs137852433, rs137852434, rs137852435, rs137852436, rs28937285, rs2228152, rs387906447, rs387906448, rs387906449, rs387906451, rs2124049493, rs387906452, rs1360639935, rs387906453, rs387906454, rs387906455, rs2124048199, rs397514036, rs387906456, rs137852438, rs111033614, rs137852439, rs2073039685, rs137852440, rs28937287, rs137852441, rs28937289, rs137852442, rs137852443, rs137852444, rs137852445, rs137852446, rs28933674, rs28933675, rs28933676, rs387906457, rs28933677, rs2123997676, rs28933678, rs28933680, rs387906458, rs137852448, rs28933681, rs387906459, rs28933682, rs137852449, rs111033615, rs137852451, rs137852452, rs387906461, rs267606791, rs137852453, rs137852454, rs137852455, rs137852456, rs137852457, rs137852458, rs137852459, rs137852460, rs387906462, rs387906463, rs137852465, rs137852462, rs137852463, rs137852464, rs137852466, rs137852467, rs137852468, rs1229477261, rs387906464, rs137852469, rs137852470, rs387906465, rs137852471, rs387906466, rs137852472, rs137852473, rs2523885652, rs2124094327, rs137852475, rs137852476, rs886039906, rs782052307, rs1482235107, rs2523933192, rs2523950236, rs782641941, rs2523954592, rs2523913908, rs2523969776, rs2523951343, rs1475665992, rs2523839082, rs2073029506, rs2523913122, rs2073173294, rs2523841357, rs2073597802, rs1290849675, rs2073350107, rs1433146066, rs2523950289, rs2523885566, rs2523942195, rs2523969889, rs2523876654, rs2523887223, rs2124141036, rs1262469737, rs2523969707, rs2523909095, rs2523885648, rs2523887246, rs2523951122, rs2523812635, rs782198570, rs1375894900, rs1557278778, rs1060499784, rs369414658, rs1557278259, rs782733685, rs782158761, rs781928603, rs1569559755, rs1490417405, rs375241473, rs1448187077, rs1047644991, rs1603430929, rs781797728, rs1603432906, rs151202877, rs1603433715, rs1603434698, rs782193428, rs1603435395, rs1261929809, rs1603432783, rs1603433729, rs1603436218, rs782473762, rs1603431511, rs1472169963, rs1603432784, rs1216878586, rs1603432996, rs782763245, rs1603433733, rs1603433779, rs942909873, rs1482306571, rs1603435027, rs1195283929, rs1603435260, rs1603436217, rs1229954426, rs1603436638, rs1603436639, rs1312347909, rs1603436770, rs1603437863, rs1264918703, rs1356674990, rs2072681848, rs2072682503, rs1377166595, rs1342196860, rs2072977865, rs1267586059, rs2073026512, rs2073182544, rs2073195449, rs2073351165, rs2073393487, rs1317834655, rs2073755958, rs2073793798, rs2073027912, rs2073445259, rs2072484280, rs2072484506, rs1174359623, rs2072692745, rs2073013277, rs1411617809, rs1603432981, rs2073030045, rs1280131174, rs2073173387, rs2073177296, rs2073183197, rs137852437, rs2073350730, rs2073424782, rs2073442480, rs2073563995, rs2073597882	RCV001330797 RCV001420434 RCV001420461 RCV001420464 RCV001420466 RCV001420472 RCV001420473 RCV001420474 RCV001528189 RCV002243431 RCV001801317 RCV001801319 RCV001803484 RCV001803511 RCV004764803 RCV001803518 RCV001803531 RCV001803547 RCV001803593 RCV001803603 RCV001803658 RCV001803671 RCV001802253 RCV001802265 RCV001802297 RCV001802300 RCV001802326 RCV001802350 RCV001802359 RCV001802368 RCV001802391 RCV001802414 RCV001802436 RCV001802440 RCV001802450 RCV001802458 RCV001802479 RCV001802513 RCV001802530 RCV001802542 RCV001802551 RCV001802555 RCV001802564 RCV001802578 RCV003987908 RCV001802583 RCV001802616 RCV001802625 RCV001802699 RCV001802716 RCV001802742 RCV001802744 RCV001802749 RCV001807989 RCV001838833 RCV002222140 RCV002223107 RCV002227328 RCV002227385 RCV002245382 RCV002245383 RCV002245384 RCV002245385 RCV002245389 RCV002245390 RCV002272597 RCV002272632 RCV002272637 RCV002272639 RCV002272640 RCV002272643 RCV002272676 RCV002272720 RCV002272788 RCV002273142 RCV002281004 RCV002281005 RCV002281635 RCV002283781 RCV002466796 RCV002466803 RCV002466889 RCV002466910 RCV002466915 RCV002466945 RCV002466954 RCV002795924 RCV005051266 RCV003152909 RCV003152975 RCV003152982 RCV003153008 RCV003153009 RCV003153015 RCV003153049 RCV003153061 RCV003153065 RCV003153097 RCV003153227 RCV000010797 RCV000010798 RCV000010800 RCV000010808 RCV000010810 RCV000010811 RCV000010821 RCV000010822 RCV000757254 RCV000010824 RCV000010826 RCV000010828 RCV000010829 RCV000010831 RCV000010838 RCV000010839 RCV000010840 RCV000010841 RCV000010842 RCV000010852 RCV000010853 RCV000010854 RCV000010855 RCV000010856 RCV000010858 RCV000010859 RCV000010860 RCV000010861 RCV000010862 RCV000010865 RCV000010866 RCV000010867 RCV000010870 RCV000010871 RCV000010872 RCV000010873 RCV000010875 RCV000010876 RCV000010877 RCV000010878 RCV000010879 RCV000010880 RCV000010881 RCV000010882 RCV000010883 RCV000010885 RCV000010886 RCV000010888 RCV000010889 RCV000010890 RCV000010891 RCV000010892 RCV000010893 RCV000010894 RCV000010895 RCV000010896 RCV000010898 RCV000010899 RCV000010900 RCV000010901 RCV000010902 RCV000010903 RCV000010904 RCV000010905 RCV000010906 RCV000010907 RCV000010908 RCV000010909 RCV000010910 RCV000010911 RCV000010912 RCV000010913 RCV000010914 RCV000010915 RCV000010916 RCV000010917 RCV000010918 RCV000010919 RCV000010920 RCV000010921 RCV000010922 RCV000010923 RCV000010924 RCV000010925 RCV000010926 RCV000010927 RCV000010928 RCV000010929 RCV000010930 RCV000010931 RCV000010932 RCV000010933 RCV000010934 RCV000010935 RCV000010936 RCV000010937 RCV000010938 RCV000010939 RCV000010940 RCV000010941 RCV000010942 RCV000010943 RCV000010944 RCV000010945 RCV000010946 RCV000010947 RCV000010948 RCV000010949 RCV000010950 RCV000010951 RCV000010952 RCV000010953 RCV000010954 RCV000010955 RCV000010957 RCV000010958 RCV000010959 RCV000010960 RCV000010961 RCV000010962 RCV000010963 RCV000010965 RCV000010966 RCV000010967 RCV000010968 RCV000010969 RCV000010970 RCV000010971 RCV000010972 RCV000010974 RCV000010975 RCV000010976 RCV000010977 RCV000010978 RCV000010979 RCV000010980 RCV000010981 RCV000010982 RCV000010983 RCV000010984 RCV000010985 RCV000010986 RCV000010987 RCV000010988 RCV000010989 RCV000010990 RCV000010991 RCV000010992 RCV000010993 RCV000010994 RCV000010995 RCV000010996 RCV000010997 RCV000010998 RCV000010999 RCV000011000 RCV000011002 RCV000011003 RCV000011004 RCV000011005 RCV000011006 RCV000011007 RCV000011008 RCV000011009 RCV000011010 RCV000011012 RCV000011013 RCV000011014 RCV000011015 RCV000011016 RCV000011017 RCV000011018 RCV000011019 RCV000011020 RCV000011021 RCV000011022 RCV000011023 RCV000011024 RCV000011025 RCV000011026 RCV000011027 RCV000011029 RCV000011030 RCV000011031 RCV000011032 RCV000011033 RCV000011034 RCV000011035 RCV000011036 RCV000011037 RCV000011038 RCV000011039 RCV000011040 RCV000011041 RCV000011042 RCV000011043 RCV000011044 RCV000011045 RCV000011046 RCV000011047 RCV000011059 RCV000011063 RCV000011064 RCV000011065 RCV000256432 RCV005861330 RCV003327330 RCV003388689 RCV003388752 RCV003405132 RCV003405199 RCV003405200 RCV003405201 RCV003405205 RCV003444533 RCV003447792 RCV003479575 RCV003479725 RCV003988123 RCV003484565 RCV003486495 RCV005254816 RCV005636959 RCV003510972 RCV003510973 RCV003510974 RCV003510975 RCV003510976 RCV003510977 RCV003510978 RCV003985710 RCV003986024 RCV003990267 RCV003992864 RCV003991908 RCV004018216 RCV004555777 RCV004577665 RCV004577666 RCV000403190 RCV000509008 RCV000509004 RCV000454124 RCV001803794 RCV004689770 RCV003147490 RCV003403227 RCV005418239 RCV000723273 RCV000756107 RCV001093532 RCV004702392 RCV001803975 RCV005056512 RCV001286233 RCV001803976 RCV003509601 RCV004808871 RCV002245654 RCV001249714 RCV003994110 RCV003235389 RCV005633669 RCV000991020 RCV000991023 RCV000991027 RCV002245829 RCV001001039 RCV001000941 RCV001002040 RCV001000840 RCV001001337 RCV001002324 RCV001002494 RCV001001170 RCV001000839 RCV001000480 RCV001001162 RCV001001168 RCV001002370 RCV001001991 RCV001001316 RCV001000703 RCV001002229 RCV001000773 RCV001002670 RCV001001056 RCV001002612 RCV001195277 RCV001265094 RCV001265085 RCV001265087 RCV001265081 RCV001265079 RCV001265086 RCV001265083 RCV001265092 RCV001265093 RCV001265095 RCV001265088 RCV001265091 RCV001265084 RCV001265090 RCV001265080 RCV001265078 RCV001265082 RCV001265089 RCV001286176 RCV001285944 RCV001286914 RCV001289767 RCV001286318 RCV001284775 RCV001285457 RCV001286809 RCV001285631 RCV001285498 RCV001286783 RCV001807852 RCV001284823 RCV001285250 RCV001287862 RCV001285586 RCV001286934 RCV001286245 RCV001285215 RCV001285264	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mild hemophilia A	Likely pathogenic; Pathogenic	rs137852417, rs781928603	RCV004595878 RCV000591635	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonpapillary renal cell carcinoma	Likely pathogenic; Pathogenic	rs2148584915, rs2123993603, rs137852396, rs1569559516, rs1280131174	RCV005922569 RCV005922570 RCV005887420 RCV005897290 RCV005910852	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thrombocytopenia	Likely pathogenic	rs2073030462	RCV001270538	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thrombophilia, X-linked, due to factor 8 defect	Likely pathogenic; Pathogenic	rs2124094299, rs781792644, rs374988541, rs781812149, rs387906460, rs137852372, rs137852384, rs137852418, rs137852428, rs137852435, rs137852436, rs387906452, rs137852467, rs1475665992, rs369414658, rs1557278259, rs781928603, rs781943956, rs1472169963, rs942909873, rs387906455	RCV002249042 RCV002249953 RCV002249956 RCV002249961 RCV005051266 RCV002247316 RCV002247318 RCV005042025 RCV002247320 RCV002247321 RCV002490351 RCV002490352 RCV002247323 RCV005047589 RCV002248743 RCV005044760 RCV002248811 RCV002249472 RCV002481798 RCV002249609 RCV002503301	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic; Pathogenic	rs2148568062, rs1255271151, rs2124134457, rs267606791, rs137852453, rs1603432913	RCV005922568 RCV005930198 RCV005887418 RCV005887421 RCV005887422 RCV005912322	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANKYLOSING SPONDYLITIS AND OTHER INFLAMMATORY SPONDYLOPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANTI-NEUTROPHIL ANTIBODY ASSOCIATED VASCULITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bardet-Biedl syndrome 2	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLEEDING DISORDER IN HEMOPHILIA A CARRIERS	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral palsy	risk factor; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FACTOR 8 DEFICIENCY, ACQUIRED	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOPHILIA A	—	CTD, ClinGen, Disgenet, HPO CTD, ClinGen, Disgenet, HPO CTD, ClinGen, Disgenet, HPO CTD, ClinGen, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemorrhage	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MODERATE HEMOPHILIA A	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MODERATELY SEVERE HEMOPHILIA A	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THROMBOPHILIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THROMBOPHILIA, X-LINKED, DUE TO FACTOR VIII DEFECT	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOSIS	—	CTD	★★☆☆☆ 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	11204592, 22726452		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	29334169		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	29334169		★☆☆☆☆ Found in Text Mining only
Angioedemas Hereditary	Angioedema	Pubtator	12393451, 21251204, 29877292	Associate	★☆☆☆☆ Found in Text Mining only
Angioedemas Hereditary	Angioedema	Pubtator	20704648	Stimulate	★☆☆☆☆ Found in Text Mining only
Arterial Occlusive Diseases	Arterial Occlusive Disease	LHGDN	17116206		★☆☆☆☆ Found in Text Mining only
Arthropathy	Arthropathy	BEFREE	11442647, 24354535, 31130012		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	28150186		★☆☆☆☆ Found in Text Mining only
Atypical Teratoid Rhabdoid Tumor	Teratoid Rhabdoid Tumor	BEFREE	29405578		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	CTD_human_DG	11886462		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases	Autoimmune Diseases	BEFREE	20015215		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal Hemophilia A	Factor VIII deficiency	CTD_human_DG	11918545, 16051741		★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood Coagulation Disorders	BEFREE	11179760, 11673057, 12430915, 15975012, 16684009, 19141160, 20626616, 2126393, 22137432, 23852824, 24517184, 24762281, 27730530, 28486277, 28599169, 28692112, 30261520, 31843450, 9245995, 9326186, 9873758		★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood coagulation disorder	Pubtator	15471879, 19552680, 29769125, 38320121	Associate	★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood coagulation disorder	Pubtator	36859289	Inhibit	★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet disorder	Pubtator	38320121	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	25592075, 29560796, 31656880		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	20877573		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	26399219	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	25779970		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	25779970	Stimulate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	31985870	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	17927806	Stimulate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	LHGDN	15202164, 17636198, 17927806		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	29334169		★☆☆☆☆ Found in Text Mining only
Cholangitis Sclerosing	Sclerosing cholangitis	Pubtator	39969330	Inhibit	★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	8825026		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	28576889		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	29577605		★☆☆☆☆ Found in Text Mining only
Coagulation factor deficiency syndrome	Coagulation Factor Deficiency Syndrome	BEFREE	15333032, 24762275		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	25209581	Associate	★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	30140928, 30566223		★☆☆☆☆ Found in Text Mining only
Connective Tissue Diseases	Connective Tissue Disease	BEFREE	2306575		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	20810930		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	LHGDN	17334514		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	20810930, 24242684, 27684604		★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	10760079, 31985870	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	20810930		★☆☆☆☆ Found in Text Mining only
Craniosynostosis, Type 1	Craniosynostosis	BEFREE	31355422		★☆☆☆☆ Found in Text Mining only
Deep Vein Thrombosis	Thrombosis	CTD_human_DG	16875063		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	30701557	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	10760079, 22219226	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	30589402, 31325222		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	17929148		★☆☆☆☆ Found in Text Mining only
Edema	Edema	Pubtator	39333538	Associate	★☆☆☆☆ Found in Text Mining only
Factor 8 deficiency acquired	Factor viii deficiency	Pubtator	12911593, 34455699, 38003562	Associate	★☆☆☆☆ Found in Text Mining only
Factor 8 deficiency, acquired	Factor VIII deficiency	CTD_human_DG	11886462		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Factor 8 deficiency, acquired	Factor VIII deficiency	BEFREE	25315236, 28150393, 28597369, 28886353, 30542801, 31514689, 31789659		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF	Combined deficiency of factor V and factor VIII	BEFREE	31558466, 9245995		★☆☆☆☆ Found in Text Mining only
Factor VIII Deficiency	Factor VIII Deficiency	CTD_human_DG	11918545, 16051741		★☆☆☆☆ Found in Text Mining only
Factor VIII Deficiency	Factor VIII Deficiency	BEFREE	28452855, 9245995		★☆☆☆☆ Found in Text Mining only
Factor X Deficiency	Factor x deficiency	Pubtator	26878264	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty liver	Pubtator	34082137	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Hemorrhage	Gastrointestinal hemorrhage	Pubtator	36859289	Inhibit	★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease XIV	Glycogen storage disease	Pubtator	30701557	Associate	★☆☆☆☆ Found in Text Mining only
Gonadal Dysgenesis, 46,XY	Gonadal Dysgenesis	LHGDN	16601852		★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	29212866		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	31355422		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	30140928, 30566223		★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	31985870	Associate	★☆☆☆☆ Found in Text Mining only
Heart Valve Diseases	Heart valve disease	Pubtator	10841240	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	30335623		★☆☆☆☆ Found in Text Mining only
Hemophilia A	Hemophilia	BEFREE	10027708, 10215942, 10458328, 10468616, 10744150, 10773919, 10805288, 10896236, 11019969, 11157485, 11171549, 11179760, 11380445, 11535168, 11554586, 11554929, 11673057, 11781225, 11798076, 11933222, 12008949, 12091341, 12098090, 12130502, 12154809, 12406074, 12614369, 12640561, 12738670, 12765843, 12857556, 1301932, 14649674, 14675082, 14699993, 14717970, 14737084, 14998268, 15269828, 15357783, 15479386, 15670040, 15682412, 15810915, 15975012, 16011583, 16011585, 16091456, 16126990, 16128892, 16409170, 16507778, 16628729, 16786531, 16796387, 16805874, 16972227, 17059431, 17181826, 17211847, 17222201, 17342157, 17445092, 17456630, 17654057, 17823971, 17901109, 17978172, 18190586, 18191040, 18371163, 18371166, 18459951, 18496572, 18500941, 18523449, 18574023, 18634839, 19199081, 19404520, 19473423, 19758994, 19817879, 19943872, 20015215, 20046514, 20050928, 20236351, 20331761, 20528906, 20619307, 20869414, 20961391, 21057709, 21118332, 21166991, 2121641, 21251204, 21396685, 21425451, 21592259, 21906573, 22077817, 22116520, 22117735, 22137432, 22246033, 22371627, 22488441, 22672258, 22741565, 23205847, 23209578, 23291180, 23467620, 23625609, 23696725, 23809411, 24037092, 24199202, 24253479, 24269957, 24296544, 24317041, 24377868, 24452774, 24684505, 24717090, 24762281, 24766411, 2477082, 24797664, 24824129, 24916518, 24927536, 2493803, 25224783, 25631402, 25652415, 25854144, 25955153, 26149015, 26176629, 26383047, 26582282, 26635073, 26727350, 26784374, 26914731, 26921444, 27061380, 27496751, 27734582, 27761962, 27761964, 27832514, 27868395, 28133956, 28212975, 28252515, 28296129, 28327546, 28335488, 28411016, 28452855, 28478688, 28550758, 28599169, 28651975, 28750470, 28780303, 28804837, 28849064, 28859889, 28921441, 28921445, 2896159, 29148258, 29181141, 29208927, 29212111, 29225598, 29257899, 29270992, 29357074, 29357868, 29359417, 29439640, 29444872, 29458233, 29552578, 29562772, 29682884, 29734520, 29808946, 29845491, 29869648, 29994897, 30073913, 30088693, 30107983, 30140713, 30232086, 30396910, 30451376, 30556650, 30609275, 30670078, 30681006, 30709356, 30814851, 30839399, 30996250, 31040652, 31044485, 31069799, 31105049, 31131515, 31141731, 31149782, 31203578, 31261034, 31271527, 31282024, 31282050, 3137981, 31454152, 31465300, 31487098, 31502548, 31503016, 31594977, 31608540, 31648333, 31649737, 31657709, 31676141, 31697801, 31843450, 31846168, 31850352, 343683, 6783148, 7603762, 7814012, 7905147, 7986726, 8449505, 8486358, 851299, 8578479, 8698347, 9245995, 9326186, 9463799, 9776210, 9829908, 9864159, 9873753, 9873758		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemophilia A	Hemophilia	UNIPROT_DG	10215414, 10338101, 10404764, 10408784, 10554831, 10612839, 10691849, 10800171, 10886198, 10896236, 10910910, 10910913, 11298607, 11341489, 11410838, 11442643, 11442647, 11554935, 11748850, 11857744, 11858487, 12195713, 12199686, 12203998, 12325022, 12351418, 12406074, 12614369, 12871415, 12930394, 1301194, 1301932, 1301960, 1349567, 1356412, 15682412, 15810915, 1639429, 16805874, 18184865, 1851341, 1908096, 1908817, 1973901, 2104766, 2105106, 2105906, 2106480, 2107542, 21371196, 2495245, 2498882, 2499363, 2506948, 2510835, 25550078, 26278069, 2833855, 2835904, 3012775, 3122181, 7579394, 7759074, 7794769, 8322269, 8449505, 8639447, 8644728, 8759905, 9029040, 9326186, 9341862, 9450898, 9452104, 9569180, 9569189, 9603440, 9792405, 9829908, 9886318		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemophilia A	Hemophilia a	Pubtator	10468875, 10554831, 10606882, 10627462, 10841240, 11110718, 12091341, 12393451, 12406074, 12763932, 12911593, 12930394, 12969981, 14521599, 14699993, 15566360, 15682412, 1569180, 16051741, 16173970, 16460441, 16805874, 17059431, 17211843, 17211847, 18047548, 1967212, 20054547, 20536985, 2105106, 2109644, 21251204, 21605333, 21899664, 21909383, 22371627, 23696725, 24032553, 24037092, 24533949, 2506948, 25244644, 25550078, 25617427, 25832012, 26278069, 26473492, 26689265, 26743572, 27471234, 27629384, 28674365, 29108420, 29170251, 29444815, 29444872, 29877292, 30037801, 31055871, 31267011, 3133808, 31350267, 31994403, 32201943, 32595650, 32801433, 32915950, 33219619, 33342086, 34013558, 34060724, 34262568, 34327828, 35054807, 35130281, 35505650, 35533261, 35806285, 35924581, 36367416, 36459498, 36735712, 36775768, 36936969, 36998198, 38341614, 38453023, 38614387, 8486358, 8605341, 8639447, 8695835, 9217180, 9497244, 9504646	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemophilia A	Hemophilia a	Pubtator	10607698, 12941038, 16042693, 19548904, 2105106, 24199202, 25029970, 28374963, 28393618, 30042145, 30396910, 31329369, 31876401, 32928254, 33645244, 34421119, 38460838	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemophilia A	Hemophilia	CLINGEN_DG	10886198, 12847523, 16805874, 2105106, 28252515, 2987704, 30210749, 3035554, 3286010, 7647782, 8281136		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemophilia A	Hemophilia	LHGDN	11848452, 11858487, 12091341, 12154809, 12203998, 12204009, 12412575, 12857556, 14717992, 15073030, 15304045, 15670040, 15921397, 16086318, 16601852, 16786531, 17680530, 17944985, 17958750, 18184865, 18217193, 18419741, 18752578		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemophilia A	Hemophilia	CTD_human_DG	11918545, 16051741		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemophilia A	Hemophilia	GENOMICS_ENGLAND_DG	18217193		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemophilia A	Hemophilia	CLINVAR_DG	1924291, 24108539		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemophilia B	Hemophilia	BEFREE	22137432, 24762281, 27761962, 27824213, 29994897, 31069799		★☆☆☆☆ Found in Text Mining only
Hemophilia B	Hemophilia	CLINVAR_DG	31064749		★☆☆☆☆ Found in Text Mining only
Hemophilia, NOS	Hemophilia	BEFREE	10215942, 10773919, 10896236, 11171549, 11535168, 11554586, 11554929, 12008949, 12130502, 12154809, 14998268, 16011585, 17059431, 17222201, 18190586, 19758994, 21118332, 21396685, 21425451, 21592259, 22829631, 23233607, 23625609, 24452774, 24766411, 26727350, 27061380, 28212975, 28327546, 28478688, 28550758, 28599169, 28651975, 28804837, 2896159, 29148258, 29208927, 29212111, 29270992, 29357868, 29439640, 29845491, 30073913, 30451376, 30556650, 31069799, 31282024, 31608540, 31676141, 31846168, 343683, 7905147, 7986726, 9776210, 9873758		★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	12763932, 16999850, 19563500, 21605333, 27629384, 32915950, 34455699, 35533261, 39800255	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemorrhage	Hemorrhage	Pubtator	24001010, 25029970, 31834934, 32627611, 33645244	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemorrhagic Disorders	Hemorrhagic Disorders	BEFREE	16091456, 31320278		★☆☆☆☆ Found in Text Mining only
Homocystinuria	Homocystinuria	BEFREE	7893924		★☆☆☆☆ Found in Text Mining only
Hyperhomocysteinemia	Hyperhomocysteinemia	BEFREE	18055997, 31156478		★☆☆☆☆ Found in Text Mining only
Hypersensitivity Immediate	Hypersensitivity	Pubtator	11564075	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	29728831		★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Hyperthyroidism	Pubtator	34210154	Stimulate	★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	14737084		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	29733497		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	39969330	Stimulate	★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	17927806		★☆☆☆☆ Found in Text Mining only
Ischemic Stroke	Ischemic stroke	Pubtator	28431990	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	10760079	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	30589402, 31355422		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	26612425		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	LHGDN	14961153		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	29577605		★☆☆☆☆ Found in Text Mining only
Lupus anticoagulant disorder	Lupus anticoagulant	BEFREE	20390230, 29078111		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	33622323	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	2306575		★☆☆☆☆ Found in Text Mining only
LUSCAN-LUMISH SYNDROME	LUSCAN-LUMISH SYNDROME	BEFREE	31165409		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	26612425		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	25592075, 29560796, 31656880		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	19758994, 27864149, 28415725		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	16894464		★☆☆☆☆ Found in Text Mining only
MASA SYNDROME (disorder)	MASA syndrome	BEFREE	2277384		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	10970689		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	Pubtator	22664050	Associate	★☆☆☆☆ Found in Text Mining only
Mild hemophilia A	Hemophilia A	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Miscarriage	Miscarriage	BEFREE	26227848		★☆☆☆☆ Found in Text Mining only
Moderately severe hemophilia A	Hemophilia A	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple sclerosis	Pubtator	39969330	Inhibit	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Emery Dreifuss	Emery dreifuss muscular dystrophy	Pubtator	1998333	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	24318042		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	28711338		★☆☆☆☆ Found in Text Mining only
Osteonecrosis	Osteonecrosis	Pubtator	33622323	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	28711338		★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Disease	Peripheral arterial disease	Pubtator	32847391	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Diseases	Vascular Diseases	BEFREE	20390230		★☆☆☆☆ Found in Text Mining only
Portal Vein Thrombosis	Portal Vein Thrombosis	BEFREE	29063359		★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	16868270		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	21624643	Associate	★☆☆☆☆ Found in Text Mining only
Raynaud Phenomenon	Raynaud Phenomenon	BEFREE	2306575		★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	30701557	Associate	★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	20153022		★☆☆☆☆ Found in Text Mining only
Severe hemophilia A	Hemophilia A	Orphanet			★☆☆☆☆ Found in Text Mining only
ST segment elevation myocardial infarction	ST Segment Elevation Myocardial Infarction	BEFREE	24934326		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	BEFREE	28362978		★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	31985870, 38253246	Associate	★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	2306575		★☆☆☆☆ Found in Text Mining only
Tetany	Tetany	Pubtator	25617427	Associate	★☆☆☆☆ Found in Text Mining only
Thromboembolism	Thromboembolism	Pubtator	16188774	Associate	★☆☆☆☆ Found in Text Mining only
Thrombophilia	Thrombophilia	BEFREE	14521595, 29577605		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombophilia	Thrombophilia	LHGDN	14521595		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombophilia	Thrombophilia	Pubtator	14521595	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombophilia	Thrombophilia	CTD_human_DG	16628723		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombophilia hereditary	Thrombophilia	Pubtator	14521595	Associate	★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	11380453, 12393556, 15606555, 16732372, 19825912, 24759134, 26264493, 38320121	Associate	★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	33622323	Stimulate	★☆☆☆☆ Found in Text Mining only
Thrombotic Microangiopathies	Thrombotic Microangiopathies	BEFREE	31676141		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	34847278	Associate	★☆☆☆☆ Found in Text Mining only
Vascular System Injuries	Vascular system injury	Pubtator	15566360	Associate	★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	BEFREE	2306575		★☆☆☆☆ Found in Text Mining only
Venous Thromboembolism	Venous thromboembolism	Pubtator	14510956, 14521595, 15353485, 20946148, 21498909, 22531482, 25779970, 25782371, 34847278	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Venous Thromboembolism	Venous thromboembolism	Pubtator	24804362	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Venous Thrombosis	Venous thrombosis	Pubtator	14510956, 16188774, 16732372, 24679097, 26264493	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Venous Thrombosis	Venous thrombosis	Pubtator	15353485, 19029445, 20682599, 30471183	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1	Combined Deficiency Of Vitamin K-Dependent Clotting Factors	BEFREE	15333032		★☆☆☆☆ Found in Text Mining only
von Willebrand Disease	von Willebrand disorder	BEFREE	11992241, 12430915, 1419805, 14630825, 14652648, 1906179, 19506355, 19506359, 19506361, 19563498, 22102194, 25955153, 27443694, 2816925, 28388959, 28804848, 29742318, 29754468, 30273954, 30747707, 309746, 31085919, 31271527, 31714963, 31808884, 9690808		★☆☆☆☆ Found in Text Mining only
von Willebrand Disease Type 1	Von willebrand disorder	Pubtator	16634747, 23349392, 31834934	Associate	★☆☆☆☆ Found in Text Mining only
von Willebrand Disease Type 2	Von willebrand disorder	Pubtator	16420565, 22102194, 28436749, 33662989, 9692396	Associate	★☆☆☆☆ Found in Text Mining only
von Willebrand Disease Type 3	Von willebrand disorder	Pubtator	18055987, 30836803	Associate	★☆☆☆☆ Found in Text Mining only
von Willebrand Disease Type 3	Von willebrand disorder	Pubtator	22102194	Inhibit	★☆☆☆☆ Found in Text Mining only
Von Willebrand disease, platelet type	von Willebrand disorder	BEFREE	2931492		★☆☆☆☆ Found in Text Mining only
von Willebrand Disease, Type 1	von Willebrand disorder	BEFREE	14652648, 16276467, 19506359, 20492463, 23349392, 31085919, 8562925, 9792286		★☆☆☆☆ Found in Text Mining only
von Willebrand Disease, Type 2	von Willebrand disorder	BEFREE	17000885, 19404524, 31085919		★☆☆☆☆ Found in Text Mining only
von Willebrand Disease, Type 2B	Von Willebrand Disorder	BEFREE	22740102, 28436749		★☆☆☆☆ Found in Text Mining only
von Willebrand Disease, Type 2N	Von Willebrand Disorder	BEFREE	10494764, 17456630		★☆☆☆☆ Found in Text Mining only
von Willebrand Disease, Type 3	von Willebrand disorder	BEFREE	16276467, 19563498, 27761577, 28692112, 30261520, 30836803		★☆☆☆☆ Found in Text Mining only