VWF (von Willebrand factor)

Gene

• Entrez ID: 7450
• Gene name: Von Willebrand factor
• Gene symbol: VWF
• Synonyms (NCBI Gene): F8VWF, VWD
• Chromosome: 12
• Chromosome location: 12p13.31
• Summary: This gene encodes a glycoprotein involved in hemostasis. The encoded preproprotein is proteolytically processed following assembly into large multimeric complexes. These complexes function in the adhesion of platelets to sites of vascular injury and the t

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1800379	A>G,T	Benign, pathogenic, likely-benign	Coding sequence variant, synonymous variant, stop gained
rs1800382	C>A,T	Benign, likely-pathogenic, likely-benign	Coding sequence variant, missense variant
rs1800386	T>C	Conflicting-interpretations-of-pathogenicity, risk-factor, pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs2363337	C>T	Not-provided, pathogenic	Splice donor variant
rs41276736	G>A,C,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, synonymous variant, coding sequence variant
rs41276738	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs61748467	C>T	Not-provided, pathogenic	Missense variant, coding sequence variant
rs61748477	G>A	Likely-pathogenic, not-provided, pathogenic	Missense variant, coding sequence variant
rs61748478	T>C	Not-provided, pathogenic	Missense variant, coding sequence variant
rs61748480	C>G	Not-provided, likely-pathogenic	Splice acceptor variant
rs61748481	C>-	Not-provided, likely-pathogenic	Frameshift variant, coding sequence variant
rs61748497	A>G	Not-provided, pathogenic	Missense variant, coding sequence variant
rs61748511	A>G	Not-provided, pathogenic	Missense variant, coding sequence variant
rs61749364	A>G	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61749370	G>A,T	Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs61749372	A>C,G	Not-provided, pathogenic	Missense variant, coding sequence variant
rs61749380	G>A,C	Not-provided, pathogenic	Missense variant, coding sequence variant
rs61749384	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs61749385	C>A,G,T	Pathogenic, not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61749387	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs61749389	T>C	Not-provided, pathogenic	Missense variant, coding sequence variant
rs61749392	C>G	Not-provided, pathogenic	Missense variant, coding sequence variant
rs61749393	C>A,G	Pathogenic, not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61749395	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs61749397	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs61749398	C>T	Not-provided, pathogenic	Missense variant, coding sequence variant
rs61749403	C>A,G,T	Not-provided, pathogenic	Missense variant, coding sequence variant
rs61749407	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs61749408	A>G	Not-provided, likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs61750069	A>G,T	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61750070	A>C	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61750071	G>A,T	Not-provided, pathogenic	Missense variant, coding sequence variant
rs61750072	C>A,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs61750074	G>A	Pathogenic	Missense variant, coding sequence variant
rs61750077	G>A	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs61750081	A>G,T	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61750084	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs61750089	G>A,T	Not-provided, pathogenic	Missense variant, coding sequence variant
rs61750095	C>-,CC	Not-provided, pathogenic	Frameshift variant, coding sequence variant
rs61750097	A>C,G,T	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61750100	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs61750101	A>C	Not-provided, pathogenic	Missense variant, coding sequence variant
rs61750117	G>A,C,T	Likely-pathogenic, not-provided, pathogenic	Missense variant, synonymous variant, coding sequence variant
rs61750577	C>A,T	Not-provided, pathogenic	Missense variant, coding sequence variant
rs61750579	A>T	Not-provided, pathogenic	Missense variant, coding sequence variant
rs61750581	A>G	Not-provided, pathogenic	Missense variant, coding sequence variant
rs61750584	A>G	Not-provided, pathogenic	Missense variant, coding sequence variant
rs61750595	G>A,T	Not-provided, pathogenic	Synonymous variant, stop gained, coding sequence variant
rs61750601	G>A,C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs61750603	A>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs61750604	C>G,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs61750605	A>G	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61750610	G>C,T	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61750612	G>A,T	Not-provided, pathogenic	Synonymous variant, stop gained, coding sequence variant
rs61750624	C>A	Not-provided, likely-pathogenic	Splice donor variant
rs61750630	C>A	Not-provided, pathogenic	Missense variant, coding sequence variant
rs61751286	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs61751288	G>A	Not-provided, likely-pathogenic	Stop gained, coding sequence variant
rs61751296	G>A	Pathogenic	Stop gained, coding sequence variant
rs61753992	C>A,T	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61753994	A>G,T	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61754002	G>T	Not-provided, pathogenic	Stop gained, coding sequence variant
rs61754010	T>C	Not-provided, pathogenic	Missense variant, coding sequence variant
rs61754011	C>T	Not-provided, pathogenic	Missense variant, coding sequence variant
rs61754019	G>A	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs62643630	C>A	Not-provided, pathogenic	Missense variant, coding sequence variant
rs62643632	G>-,GG	Pathogenic	Frameshift variant, coding sequence variant
rs62643634	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs63749067	GAGGGCAGGGCAGGCGCACTCCAG>-	Not-provided, likely-pathogenic	Coding sequence variant, inframe deletion
rs111597150	G>A,T	Pathogenic	Coding sequence variant, stop gained, synonymous variant
rs121964894	G>A	Pathogenic, not-provided	Coding sequence variant, missense variant
rs121964895	C>A,T	Pathogenic, not-provided	Coding sequence variant, missense variant
rs139845585	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs139864572	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs141649383	G>A,C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs143054357	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs144072210	T>C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs147924974	G>T	Likely-pathogenic	Stop gained, coding sequence variant
rs149834874	C>A,G,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs267607321	C>G	Likely-pathogenic, not-provided	Missense variant, coding sequence variant
rs267607325	A>C	Pathogenic	Missense variant, coding sequence variant
rs267607326	T>C	Pathogenic, not-provided	Missense variant, coding sequence variant
rs267607328	G>A	Likely-pathogenic, not-provided	Missense variant, coding sequence variant
rs267607334	A>C	Likely-pathogenic, not-provided	Missense variant, coding sequence variant
rs267607340	ACGTGGATG>-	Likely-pathogenic, not-provided	Inframe deletion, coding sequence variant
rs267607347	C>T	Likely-pathogenic, not-provided	Missense variant, coding sequence variant
rs267607353	A>C	Pathogenic, not-provided	Missense variant, coding sequence variant
rs267607364	->CT	Likely-pathogenic, not-provided	Frameshift variant, coding sequence variant
rs267607366	C>A,G	Likely-pathogenic, not-provided	Splice acceptor variant
rs369669154	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs369970893	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs370854023	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs373787920	G>A	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs377196768	G>T	Likely-pathogenic, uncertain-significance, pathogenic	Intron variant
rs569962285	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs746457842	C>T	Likely-pathogenic	Splice acceptor variant
rs746482504	G>A	Likely-pathogenic	Coding sequence variant, synonymous variant
rs751286556	->A	Pathogenic	Coding sequence variant, frameshift variant
rs761288966	G>A,C	Likely-pathogenic	Stop gained, synonymous variant, coding sequence variant
rs762105711	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs772203447	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs780538558	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs900907976	G>A	Likely-pathogenic	Synonymous variant, coding sequence variant
rs1555194979	A>T	Pathogenic	Missense variant, coding sequence variant
rs1555198839	C>A	Pathogenic	Splice donor variant
rs1565832072	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1565832211	G>A	Pathogenic	Stop gained, coding sequence variant
rs1591834850	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1591836930	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1591838031	G>T	Likely-pathogenic	Intron variant
rs1591838792	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1591838814	TCCTCCATGTCGGTGCA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1591838833	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1591838900	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1591841452	CA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1591848387	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1591857613	AAAGCACTGCCCCTTTGACGCTGCCCTGGCTGGAGAAGCAAAGGACTCACAGGGGCAGGTCCAGCGGCAGCCACAGGTCTCTTCCACTTTAACAGGGGACTGGCTGTTAGGGCACGAAGGCCTCAGCCCCCGGTCACAGTTGACCCGATGACTCTTCAGCAAGGTCTGGCCATCTGGCTGGCAAGTCACGGTGTGGCACTGGTCTGGCAAGGTCCAGACGTCCCCGGGCTGCAGAAGAAAACAGCAGATTCAGGC	Pathogenic	Intron variant, splice donor variant, splice acceptor variant, coding sequence variant
rs1591858979	->T	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1591862022	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1591862342	GGT>-	Likely-pathogenic	Inframe indel, coding sequence variant
rs1591862366	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1591863294	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1591865026	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1591865617	G>A,C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, synonymous variant
rs1591866220	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1591870340	C>T	Pathogenic	Stop gained, coding sequence variant
rs1591874316	->CAAA	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1591886521	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1591890769	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1591895308	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1591895879	A>G	Likely-pathogenic	Splice donor variant
rs1591914708	TCCAGAAATCACACACCATCCAGGTGCACCCAGGCCAGTCCACACCCACCTTCTGCATTTCCCCAGAGGAGATGTTGCATGAGCTGCTGGGAGGAGATGCCCGTTCACACCACTGTTCTCCACTGCTCAGAGCCCATGAGTTGGCAAAGTCATAAGGGTCCGAGGTCAAGGTCCCTGTGGAGGAAAGTTTCAGGAAAGTAATGCTTCAGTTATGCCTGTCCCAGA>-	Likely-pathogenic	Intron variant, splice donor variant, splice acceptor variant, coding sequence variant
rs1591924188	TAAAAAGCATGGCCACACTTTAGGGAAATGGTATCCCAGAACATCTTACCTTCTTGGGTCATAAAGTCATCTTCAGCAAAGATGTTAAAGTTGCCACACAGCCCGCAGGTCTTGTTGAAGTATCTGTCTGACAGCAGGACTTGAAAGTTGCCGCTGCCATCGATCCTGGCCACAAAGCCATAGGCCTCACCGGACAGCTTGTAGTACCCAGCCTCAGTTTCTAGATACAGCCCTTTGGAGGCATAGGGCATGGAG	Pathogenic	Intron variant, splice donor variant, splice acceptor variant, coding sequence variant
rs1591924208	TTAGGGAAATGGTATCCCAGAACATCTTACCTTCTTGGGTCATAAAGTCATCTTCAGCAAAGATGTTAAAGTTGCCACACAGCCCGCAGGTCTTGTTGAAGTATCTGTCTGACAGCAGGACTTGAAAGTTGCCGCTGCCATCGATCCTGGCCACAAAGCCATAGGCCTCACCGGACAGCTTGTAGTACCCAGCCTCAGTTTCTAGATACAGCCCTTTGGAGGCATAGGGCATGGAGACTCTGGAGGGCAAAGGCT	Likely-pathogenic	Intron variant, splice donor variant, splice acceptor variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1488361	hsa-miR-2467-3p	CLIP-seq
MIRT1488362	hsa-miR-3169	CLIP-seq
MIRT1488363	hsa-miR-3678-3p	CLIP-seq
MIRT1488364	hsa-miR-4515	CLIP-seq
MIRT1488365	hsa-miR-885-3p	CLIP-seq
MIRT2147040	hsa-miR-2278	CLIP-seq
MIRT1488361	hsa-miR-2467-3p	CLIP-seq
MIRT1488362	hsa-miR-3169	CLIP-seq
MIRT1488363	hsa-miR-3678-3p	CLIP-seq
MIRT2147041	hsa-miR-4468	CLIP-seq
MIRT1488364	hsa-miR-4515	CLIP-seq
MIRT1488365	hsa-miR-885-3p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
ERG	Activation	22235125
ERG	Unknown	19359602;9444957
ETS1	Unknown	9444957
ETS2	Unknown	9444957
GATA6	Unknown	12511565
NFIC	Unknown	11895773
NFIL3	Unknown	15498853
NFKB1	Unknown	10848823
POU2F1	Activation	7507210
POU2F1	Repression	9694713
RELA	Unknown	10848823
YY1	Unknown	11522021

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002020	Function	Protease binding	IDA	15824096
GO:0002020	Function	Protease binding	IPI	12775718
GO:0005178	Function	Integrin binding	IPI	9079671
GO:0005201	Function	Extracellular matrix structural constituent	IBA
GO:0005201	Function	Extracellular matrix structural constituent	RCA	23979707, 25037231, 28675934
GO:0005515	Function	Protein binding	IPI	2839553, 7721887, 7756647, 8562925, 11943773, 12183630, 15039442, 16221672, 16912226, 18492805, 25512528, 27749002, 32814053
GO:0005518	Function	Collagen binding	IDA	2056120
GO:0005576	Component	Extracellular region	HDA	27068509
GO:0005576	Component	Extracellular region	IDA	10887119
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:0005783	Component	Endoplasmic reticulum	IDA	6754744
GO:0007155	Process	Cell adhesion	IDA	10764791
GO:0007155	Process	Cell adhesion	IEA
GO:0007596	Process	Blood coagulation	IBA
GO:0007596	Process	Blood coagulation	IEA
GO:0007596	Process	Blood coagulation	IMP	16409464
GO:0007599	Process	Hemostasis	IEA
GO:0007599	Process	Hemostasis	IMP	10887119
GO:0009611	Process	Response to wounding	TAS	15029268
GO:0019865	Function	Immunoglobulin binding	IDA	3121636
GO:0030168	Process	Platelet activation	IDA	8565074
GO:0030168	Process	Platelet activation	IEA
GO:0030168	Process	Platelet activation	NAS	12871509
GO:0031012	Component	Extracellular matrix	HDA	23979707, 25037231, 28675934
GO:0031012	Component	Extracellular matrix	IBA
GO:0031012	Component	Extracellular matrix	IDA	6754744
GO:0031091	Component	Platelet alpha granule	NAS	9759493
GO:0031093	Component	Platelet alpha granule lumen	TAS
GO:0031589	Process	Cell-substrate adhesion	IBA
GO:0031589	Process	Cell-substrate adhesion	IDA	9079671
GO:0031589	Process	Cell-substrate adhesion	IEA
GO:0033093	Component	Weibel-Palade body	IDA	3082891, 3087627
GO:0033093	Component	Weibel-Palade body	IEA
GO:0042802	Function	Identical protein binding	IPI	10887119, 16409464, 17895385, 18182488, 18492805, 21857647
GO:0051087	Function	Protein-folding chaperone binding	IDA	10887119
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0071944	Component	Cell periphery	IEA
GO:1902533	Process	Positive regulation of intracellular signal transduction	IDA	14656219

Other IDs

• MIM: 613160
• HGNC: 12726
• e!Ensembl: ENSG00000110799

Protein

• UniProt ID: P04275
• Protein name: von Willebrand factor (vWF) [Cleaved into: von Willebrand antigen 2 (von Willebrand antigen II)]
• Protein function: Important in the maintenance of hemostasis, it promotes adhesion of platelets to the sites of vascular injury by forming a molecular bridge between sub-endothelial collagen matrix and platelet-surface receptor complex GPIb-IX-V. Also acts as a c
• PDB: 1AO3, 1ATZ, 1AUQ, 1FE8, 1FNS, 1IJB, 1IJK, 1M10, 1OAK, 1SQ0, 1U0N, 1UEX, 2ADF, 2MHP, 2MHQ, 3GXB, 3HXO, 3HXQ, 3PPV, 3PPW, 3PPX, 3PPY, 3ZQK, 4C29, 4C2A, 4C2B, 4DMU, 4NT5, 5BV8, 6FWN, 6N29, 7EOW, 7F49, 7KWO, 7P4N, 7PMV, 7PNF, 7ZWH, 8D3C, 8D3D
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00094	VWD	35 → 179	von Willebrand factor type D domain	Family
  PF08742	C8	224 → 291	C8 domain	Domain
  PF01826	TIL	295 → 348	Trypsin Inhibitor like cysteine rich domain	Domain
  PF00094	VWD	388 → 541	von Willebrand factor type D domain	Family
  PF08742	C8	583 → 648	C8 domain	Domain
  PF01826	TIL	652 → 707	Trypsin Inhibitor like cysteine rich domain	Domain
  PF01826	TIL	776 → 827	Trypsin Inhibitor like cysteine rich domain	Domain
  PF00094	VWD	867 → 1013	von Willebrand factor type D domain	Family
  PF08742	C8	1059 → 1126	C8 domain	Domain
  PF01826	TIL	1141 → 1196	Trypsin Inhibitor like cysteine rich domain	Domain
  PF16164	VWA_N2	1198 → 1276	VWA N-terminal	Family
  PF00092	VWA	1277 → 1452	von Willebrand factor type A domain	Domain
  PF00092	VWA	1498 → 1660	von Willebrand factor type A domain	Domain
  PF00092	VWA	1691 → 1862	von Willebrand factor type A domain	Domain
  PF00094	VWD	1950 → 2102	von Willebrand factor type D domain	Family
  PF08742	C8	2138 → 2199	C8 domain	Domain
  PF00093	VWC	2257 → 2327	von Willebrand factor type C domain	Family
  PF00093	VWC	2431 → 2494	von Willebrand factor type C domain	Family
  PF00093	VWC	2582 → 2644	von Willebrand factor type C domain	Family

• Tissue specificity: TISSUE SPECIFICITY: Plasma.
• Sequence:

  MIPARFAGVLLALALILPGTLCAEGTRGRSSTARCSLFGSDFVNTFDGSMYSFAGYCSYL
  LAGGCQKRSFSIIGDFQNGKRVSLSVYLGEFFDIHLFVNGTVTQGDQRVSMPYASKGLYL
  ETEAGYYKLSGEAYGFVARIDGSGNFQVLLSDRYFNKTCGLCGNFNIFAEDDFMTQEGTL
  TSDPYDFANSWALSSGEQWCERASPPSSSCNISSGEMQKGLWEQCQLLKSTSVFARCHPL
  VDPEPFVALCEKTLCECAGGLECACPALLEYARTCAQEGMVLYGWTDHSACSPVCPAGME
  YRQCVSPCARTCQSLHINEMCQERCVDGCSCPEGQLLDEGLCVESTECPCVHSGKRYPPG
  TSLSRDCNTCICRNSQWICSNEECPGECLVTGQSHFKSFDNRYFTFSGICQYLLARDCQD
  HSFSIVIETVQCADDRDAVCTRSVTVRLPGLHNSLVKLKHGAGVAMDGQDVQLPLLKGDL
  RIQHTVTASVRLSYGEDLQMDWDGRGRLLVKLSPVYAGKTCGLCGNYNGNQGDDFLTPSG
  LAEPRVEDFGNAWKLHGDCQDLQKQHSDPCALNPRMTRFSEEACAVLTSPTFEACHRAVS
  PLPYLRNCRYDVCSCSDGRECLCGALASYAAACAGRGVRVAWREPGRCELNCPKGQVYLQ
  CGTPCNLTCRSLSYPDEECNEACLEGCFCPPGLYMDERGDCVPKAQCPCYYDGEIFQPED
  IFSDHHTMCYCEDGFMHCTMSGVPGSLLPDAVLSSPLSHRSKRSLSCRPPMVKLVCPADN
  LRAEGLECTKTCQNYDLECMSMGCVSGCLCPPGMVRHENRCVALERCPCFHQGKEYAPGE
  TVKIGCNTCVCQDRKWNCTDHVCDATCSTIGMAHYLTFDGLKYLFPGECQYVLVQDYCGS
  NPGTFRILVGNKGCSHPSVKCKKRVTILVEGGEIELFDGEVNVKRPMKDETHFEVVESGR
  YIILLLGKALSVVWDRHLSISVVLKQTYQEKVCGLCGNFDGIQNNDLTSSNLQVEEDPVD
  FGNSWKVSSQCADTRKVPLDSSPATCHNNIMKQTMVDSSCRILTSDVFQDCNKLVDPEPY
  LDVCIYDTCSCESIGDCACFCDTIAAYAHVCAQHGKVVTWRTATLCPQSCEERNLRENGY
  ECEWRYNSCAPACQVTCQHPEPLACPVQCVEGCHAHCPPGKILDELLQTCVDPEDCPVCE
  VAGRRFASGKKVTLNPSDPEHCQICHCDVVNLTCEACQEPGGLVVPPTDAPVSPTTLYVE
  DISEPPLHDFYCSRLLDLVFLLDGSSRLSEAEFEVLKAFVVDMMERLRISQKWVRVAVVE
  YHDGSHAYIGLKDRKRPSELRRIASQVKYAGSQVASTSEVLKYTLFQIFSKIDRPEASRI
  TLLLMASQEPQRMSRNFVRYVQGLKKKKVIVIPVGIGPHANLKQIRLIEKQAPENKAFVL
  SSVDELEQQRDEIVSYLCDLAPEAPPPTLPPDMAQVTVGPGLLGVSTLGPKRNSMVLDVA
  FVLEGSDKIGEADFNRSKEFMEEVIQRMDVGQDSIHVTVLQYSYMVTVEYPFSEAQSKGD
  ILQRVREIRYQGGNRTNTGLALRYLSDHSFLVSQGDREQAPNLVYMVTGNPASDEIKRLP
  GDIQVVPIGVGPNANVQELERIGWPNAPILIQDFETLPREAPDLVLQRCCSGEGLQIPTL
  SPAPDCSQPLDVILLLDGSSSFPASYFDEMKSFAKAFISKANIGPRLTQVSVLQYGSITT
  IDVPWNVVPEKAHLLSLVDVMQREGGPSQIGDALGFAVRYLTSEMHGARPGASKAVVILV
  TDVSVDSVDAAADAARSNRVTVFPIGIGDRYDAAQLRILAGPAGDSNVVKLQRIEDLPTM
  VTLGNSFLHKLCSGFVRICMDEDGNEKRPGDVWTLPDQCHTVTCQPDGQTLLKSHRVNCD
  RGLRPSCPNSQSPVKVEETCGCRWTCPCVCTGSSTRHIVTFDGQNFKLTGSCSYVLFQNK
  EQDLEVILHNGACSPGARQGCMKSIEVKHSALSVELHSDMEVTVNGRLVSVPYVGGNMEV
  NVYGAIMHEVRFNHLGHIFTFTPQNNEFQLQLSPKTFASKTYGLCGICDENGANDFMLRD
  GTVTTDWKTLVQEWTVQRPGQTCQPILEEQCLVPDSSHCQVLLLPLFAECHKVLAPATFY
  AICQQDSCHQEQVCEVIASYAHLCRTNGVCVDWRTPDFCAMSCPPSLVYNHCEHGCPRHC
  DGNVSSCGDHPSEGCFCPPDKVMLEGSCVPEEACTQCIGEDGVQHQFLEAWVPDHQPCQI
  CTCLSGRKVNCTTQPCPTAKAPTCGLCEVARLRQNADQCCPEYECVCDPVSCDLPPVPHC
  ERGLQPTLTNPGECRPNFTCACRKEECKRVSPPSCPPHRLPTLRKTQCCDEYECACNCVN
  STVSCPLGYLASTATNDCGCTTTTCLPDKVCVHRSTIYPVGQFWEEGCDVCTCTDMEDAV
  MGLRVAQCSQKPCEDSCRSGFTYVLHEGECCGRCLPSACEVVTGSPRGDSQSSWKSVGSQ
  WASPENPCLINECVRVKEEVFIQQRNVSCPQLEVPVCPSGFQLSCKTSACCPSCRCERME
  ACMLNGTVIGPGKTVMIDVCTTCRCMVQVGVISGFKLECRKTTCNPCPLGYKEENNTGEC
  CGRCLPTACTIQLRGGQIMTLKRDETLQDGCDTHFCKVNERGEYFWEKRVTGCPPFDEHK
  CLAEGGKIMKIPGTCCDTCEEPECNDITARLQYVKVGSCKSEVEVDIHYCQGKCASKAMY
  SIDINDVQDQCSCCSPTRTEPMQVALHCTNGSVVYHEVLNAMECKCSPRKCSK

• Sequence length: 2813

Pathways

KEGG:

PI3K-Akt signaling pathway
Focal adhesion
ECM-receptor interaction
Complement and coagulation cascades
Platelet activation
Neutrophil extracellular trap formation
Human papillomavirus infection
Coronavirus disease - COVID-19

Reactome:

Platelet degranulation
Intrinsic Pathway of Fibrin Clot Formation
Integrin cell surface interactions
Integrin signaling
GRB2:SOS provides linkage to MAPK signaling for Integrins
p130Cas linkage to MAPK signaling for integrins
GP1b-IX-V activation signalling
MAP2K and MAPK activation
Signaling by moderate kinase activity BRAF mutants
Signaling by high-kinase activity BRAF mutants
Signaling by BRAF and RAF fusions
Paradoxical activation of RAF signaling by kinase inactive BRAF
Platelet Adhesion to exposed collagen
Platelet Aggregation (Plug Formation)
Signaling downstream of RAS mutants

Associated diseases

Evidence Score:

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

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Abnormal bleeding	Likely pathogenic; Pathogenic	rs61748481, rs61750072, rs61751286, rs61748477, rs41276738, rs62643632	RCV001270518 RCV000626712 RCV001270490 RCV000851745 RCV001270529 RCV000852083	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Abnormality of blood and blood-forming tissues	Pathogenic	rs61750612	RCV001813924	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Abnormality of coagulation	Likely pathogenic; Pathogenic	rs62643634, rs61750095, rs61749384, rs41276738, rs111597150, rs1591866220	RCV000852085 RCV000851794 RCV000851990 RCV000851593 RCV000852194 RCV000851633	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary von Willebrand disease	Likely pathogenic; Pathogenic	rs764543553, rs62643625, rs267607305, rs61748482, rs267607321, rs2363337, rs267607328, rs267607332, rs61749364, rs61749371, rs61749377, rs267607334, rs61749385, rs61749389, rs267607337, rs61749395, rs61749402, rs61749408, rs61750071, rs61750072, rs61750074, rs61750077, rs61753992, rs61750078, rs61750081, rs61750083, rs61753994, rs61750100, rs267607340, rs267607344, rs61750577, rs61750605, rs61750624, rs61751286, rs61751288, rs267607363, rs63749067, rs61753997, rs61754000, rs2136403361, rs61750584, rs61750117, rs61749384, rs61749387, rs61749397, rs61749403, rs61748477, rs121964894, rs41276738, rs61750595, rs61750612, rs61751296, rs62643632, rs121964895, rs61749388, rs2136338728, rs2136409514, rs2136413547, rs2497235136, rs267607331, rs61750623, rs2497384798, rs2497535795, rs2497227407, rs1944671082, rs267607326, rs373787920, rs762105711, rs1591836930, rs139864572, rs1591838814, rs1591838833, rs1591848387, rs61750610, rs1591862022, rs61750069, rs1591870340, rs1591874316, rs761288966, rs1591890769, rs1591895308, rs147924974, rs751286556, rs1591895879, rs1591857613, rs1591924208, rs1591924188, rs746482504, rs772203447	RCV003399191 RCV003486648 RCV003447492 RCV004017399 RCV000851636 RCV000851637 RCV000851957 RCV003126497 RCV000851643 RCV002243727 RCV003155073 RCV000851986 RCV003226194 RCV000678766 RCV001250230 RCV000851600 RCV003323398 RCV000851781 RCV000678770 RCV000851939 RCV002243737 RCV000778378 RCV000852119 RCV000852120 RCV002271406 RCV000852123 RCV002227446 RCV000851799 RCV000852128 RCV000852131 RCV002222391 RCV000852141 RCV000852152 RCV000851853 RCV000778374 RCV000852206 RCV002243754 RCV000851880 RCV003398701 RCV002243756 RCV001807690 RCV000778377 RCV000851942 RCV000851599 RCV000851770 RCV000678767 RCV002227435 RCV002227436 RCV001195286 RCV000169683 RCV002227437 RCV000851820 RCV002227438 RCV000851752 RCV000851598 RCV002227921 RCV002245484 RCV002245486 RCV002245489 RCV002308676 RCV003479616 RCV003479819 RCV003479972 RCV004018210 RCV004018258 RCV004018297 RCV000851956 RCV001563671 RCV000851647 RCV000600065 RCV000851867 RCV000851865 RCV000851615 RCV000852203 RCV000851607 RCV000852158 RCV000851803 RCV000852114 RCV000851766 RCV000852098 RCV000851729 RCV000852041 RCV000851587 RCV000851924 RCV000851810 RCV000852007 RCV000852276 RCV000852277 RCV000852278 RCV000778375 RCV000778379	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Prolonged bleeding time	Pathogenic	rs61750072	RCV000626712	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Reduced quantity of Von Willebrand factor	Pathogenic	rs121964895	RCV001003906	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Reduced von Willebrand factor activity	Pathogenic	rs121964895, rs1591865026	RCV001003906 RCV001003907	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thrombocytopenia	Likely pathogenic; Pathogenic	rs61748481, rs267607337, rs61751286, rs41276738, rs1943611659, rs779819811	RCV001270518 RCV002280869 RCV001270490 RCV001270529 RCV003313845 RCV003313899	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
von Willebrand disease type 1	Pathogenic; Likely pathogenic	rs1591836930, rs2136440316, rs61753984, rs61748466, rs267607312, rs267607314, rs267607316, rs2363337, rs267607328, rs61749364, rs267607334, rs61749390, rs61749395, rs61749396, rs61749400, rs61749402, rs61749407, rs61750072, rs61750074, rs61753992, rs61750078, rs61750083, rs61750084, rs267607345, rs267607355, rs61750620, rs61750626, rs61751286, rs61753997, rs61754000, rs2136412581, rs1565831817, rs2136413792, rs2136418339, rs2136420496, rs2136454246, rs1591889534, rs61754005, rs2136472072, rs1195620730, rs2136522667, rs2136522662, rs2136456013, rs2136430770, rs2136430552, rs1201852829, rs2136338765, rs2136411659, rs61750584, rs61749384, rs61749397, rs121964894, rs41276738, rs61750595, rs61750612, rs61751296, rs62643632, rs121964895, rs61748511, rs2136385288, rs1268159078, rs1194776238, rs2136409514, rs1438247325, rs2136420816, rs2136413887, rs2136462110, rs2136411706, rs2136411547, rs2136405765, rs2136382972, rs2497421495, rs2497390193, rs2497515136, rs1944059755, rs2497434558, rs758895722, rs267607326, rs61748467, rs111597150, rs1591865026, rs1591865617, rs1591886521, rs267607366, rs746482504, rs1591858979, rs1943442849	RCV002264782 RCV005361578 RCV005859502 RCV005359027 RCV002264642 RCV002264643 RCV003989318 RCV004820829 RCV002264645 RCV002264646 RCV002264651 RCV005859503 RCV002264655 RCV003333732 RCV002222015 RCV002280870 RCV002264657 RCV001093529 RCV002264660 RCV002264661 RCV002466251 RCV002498470 RCV004760373 RCV003387759 RCV002264666 RCV002264668 RCV002264669 RCV002264670 RCV003313936 RCV002280872 RCV001420492 RCV001420491 RCV001420496 RCV001420361 RCV001420363 RCV001420368 RCV001420369 RCV001420370 RCV001420372 RCV001774767 RCV001774769 RCV001774770 RCV001774771 RCV001774772 RCV001774773 RCV001774774 RCV001774775 RCV001838831 RCV005859448 RCV005007800 RCV002476901 RCV004795363 RCV000000321 RCV000000323 RCV000000325 RCV002264634 RCV002264635 RCV000000335 RCV000000337 RCV002223126 RCV002223127 RCV002264839 RCV003313799 RCV002264851 RCV002264854 RCV002264857 RCV002264859 RCV002264868 RCV002264869 RCV002264871 RCV002264872 RCV002280974 RCV003313848 RCV003314540 RCV003389103 RCV003389129 RCV004787079 RCV002264640 RCV000024003 RCV002264740 RCV002222625 RCV000851955 RCV000851736 RCV000852208 RCV005411561 RCV000985056 RCV001260928	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
von Willebrand disease type 2	Likely pathogenic; Pathogenic	rs2136409487, rs61753984, rs267607309, rs61748466, rs61753988, rs61748496, rs267607314, rs267607321, rs267607324, rs61749371, rs61749375, rs61749379, rs267607334, rs267607335, rs61749385, rs61749386, rs61749389, rs61749395, rs61749396, rs61749400, rs61749402, rs61749403, rs61750071, rs61750072, rs61750074, rs61750077, rs61750078, rs61750081, rs61750083, rs61750084, rs61750100, rs267607340, rs61750110, rs267607349, rs61750577, rs61750596, rs267607352, rs61750606, rs61753998, rs2136411659, rs61750584, rs61750117, rs61750579, rs61749384, rs61749387, rs61749397, rs61748477, rs121964894, rs41276738, rs61750612, rs61749398, rs61749372, rs62643632, rs61748511, rs61754010, rs61749388, rs2136412350, rs2136411988, rs2136470486, rs61750585, rs772796741, rs2136413535, rs2136412203, rs1194776238, rs1565838728, rs2136417619, rs61750593, rs2136455744, rs61750082, rs2136412168, rs2136412846, rs1591865026, rs267607326, rs1555194979, rs1591862342, rs1591862366, rs1591863294, rs1591865617, rs1591890769, rs746482504, rs200770256	RCV002264781 RCV003447491 RCV003447493 RCV003147338 RCV002466428 RCV003447495 RCV002264644 RCV002281057 RCV002243723 RCV002243726 RCV002243728 RCV002264650 RCV002264652 RCV002264653 RCV002243729 RCV002243730 RCV002264654 RCV002243731 RCV002243732 RCV002466429 RCV002243733 RCV002243734 RCV002243735 RCV002264656 RCV002222016 RCV000852116 RCV002264659 RCV002243738 RCV002222017 RCV002243739 RCV002243740 RCV002498470 RCV002243741 RCV002222018 RCV002264662 RCV002264663 RCV002264664 RCV002243742 RCV002243744 RCV002271338 RCV003447496 RCV002243755 RCV002243467 RCV002243602 RCV002243603 RCV002243604 RCV000851989 RCV002225253 RCV000851771 RCV002243605 RCV002264633 RCV004795363 RCV000336497 RCV003447467 RCV003447468 RCV002243607 RCV002476902 RCV002264636 RCV002243608 RCV002243531 RCV002244520 RCV002244521 RCV002244522 RCV002244523 RCV002244527 RCV002244528 RCV002244530 RCV002244534 RCV002244536 RCV002244540 RCV002244541 RCV002244542 RCV002244552 RCV002264850 RCV002264860 RCV002264863 RCV002272594 RCV003313897 RCV000024001 RCV003447537 RCV002264704 RCV000852135 RCV000852134 RCV000851773 RCV000851644 RCV002245652 RCV002264736 RCV005411561 RCV001197641	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Von Willebrand disease type 2A	Likely pathogenic; Pathogenic	rs61754006, rs267607332, rs61749364, rs61750072, rs61750100, rs61750585, rs61751311, rs61750584, rs61750117, rs61750579, rs61749372, rs61750101, rs61754011, rs61751310, rs61748511, rs61754010, rs772796741, rs2136412203, rs1591865026, rs267607326	RCV002271405 RCV001093531 RCV005859331 RCV001093529 RCV004595920 RCV005859332 RCV004821275 RCV000000308 RCV000000309 RCV000000310 RCV000000328 RCV000000331 RCV000000332 RCV000000333 RCV004821258 RCV000000346 RCV005859358 RCV004821325 RCV005859359 RCV005859366 RCV004821262 RCV005859351	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Von Willebrand disease type 2B	Pathogenic; Likely pathogenic	rs61749371, rs61749389, rs61749390, rs61749393, rs61749394, rs61749392, rs61749384, rs61749387, rs61749397, rs61749403, rs2136413547, rs2497272240	RCV004821264 RCV005252758 RCV004821265 RCV004821266 RCV004821267 RCV000000311 RCV000000312 RCV000000313 RCV000000314 RCV000000315 RCV000000329 RCV005859360 RCV002466844	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
von Willebrand disease type 2M	Likely pathogenic; Pathogenic	rs61749396, rs61749399, rs61750072, rs61750077, rs61750078, rs61750080, rs267607352, rs61749398, rs61749380	RCV004821268 RCV004821269 RCV001093529 RCV004821270 RCV001093530 RCV004821271 RCV004821273 RCV000000327 RCV000000339	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
von Willebrand disease type 2N	Likely pathogenic; Pathogenic	rs61748466, rs61748485, rs61748477, rs121964894, rs41276738, rs61748478, rs62643630, rs61754002, rs61748497	RCV005252035 RCV004812300 RCV000000318 RCV000000319 RCV000000320 RCV000000340 RCV000000341 RCV000000344 RCV000000345	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
von Willebrand disease type 3	Pathogenic; Likely pathogenic	rs267607352, rs1943194455, rs2136356178, rs1591836930, rs2136358550, rs1591838814, rs1256082707, rs2136375588, rs2136376158, rs2136385288, rs2136385927, rs2136385937, rs774210583, rs2136387598, rs1359172781, rs764543553, rs2136409487, rs2136411489, rs753701755, rs2136412494, rs2136412749, rs2136413513, rs2136413727, rs2136413869, rs2136418333, rs2136418437, rs2136424529, rs1944232310, rs2136426808, rs2136440246, rs746648486, rs2136440279, rs2136440291, rs2136440316, rs2136440319, rs776747320, rs2136449605, rs61748462, rs2136454053, rs750364485, rs2136455808, rs2136455960, rs1381910966, rs770203987, rs1321160729, rs1250492485, rs2136470584, rs2136474390, rs767837153, rs2136500386, rs1312486904, rs1481396407, rs2136522699, rs2136522827, rs61753984, rs61754003, rs61754009, rs61748460, rs61748463, rs61748464, rs62643619, rs62643628, rs61748465, rs61748466, rs61748480, rs61748481, rs61748482, rs61753988, rs2363337, rs267607328, rs61749364, rs61749366, rs267607337, rs61749405, rs61750083, rs61753994, rs61750103, rs267607343, rs267607301, rs61750606, rs61750614, rs62643623, rs62643624, rs61750626, rs267607358, rs267607359, rs62643640, rs61751286, rs61751288, rs61751297, rs267607364, rs267607365, rs61751301, rs267607366, rs61751303, rs61751304, rs61751305, rs61753998, rs267607368, rs61754000, rs2136420496, rs2136375523, rs61749384, rs61749397, rs121964894, rs41276738, rs61750595, rs61750612, rs61751296, rs62643632, rs61750630, rs1944531613, rs2136456030, rs2136412017, rs1475440343, rs2497449184, rs2136356244, rs2497448284, rs2497505797, rs1591834850, rs1591838792, rs1591841452, rs746457842, rs1591914708, rs746482504, rs200770256	RCV001787130 RCV001787141 RCV001787225 RCV001787224 RCV001787223 RCV001787222 RCV001787209 RCV001787208 RCV001787206 RCV001787203 RCV001787201 RCV001787200 RCV001787199 RCV001787185 RCV001787183 RCV001787178 RCV001787176 RCV001787139 RCV001787138 RCV001787137 RCV001787136 RCV001787134 RCV001787133 RCV001787132 RCV001787217 RCV001787216 RCV001787212 RCV001787211 RCV001787210 RCV001787196 RCV001787197 RCV001787195 RCV001787194 RCV001787193 RCV001787192 RCV001787189 RCV001787190 RCV001787171 RCV001787170 RCV001787168 RCV001787166 RCV001787165 RCV001787164 RCV001787162 RCV001787161 RCV001787160 RCV001787159 RCV001787158 RCV001787227 RCV001787202 RCV001787184 RCV001787135 RCV001787214 RCV001787213 RCV001787188 RCV001787039 RCV001787040 RCV001787041 RCV001787042 RCV001787043 RCV001787044 RCV004771460 RCV001787045 RCV001787046 RCV005359027 RCV001787047 RCV001787048 RCV001787049 RCV001787050 RCV001787052 RCV001787053 RCV001787054 RCV001787055 RCV001787056 RCV001787057 RCV002498470 RCV001787058 RCV001787059 RCV001787060 RCV001787063 RCV001787064 RCV001787065 RCV001787067 RCV001787068 RCV001787069 RCV001787070 RCV001787071 RCV001787072 RCV005364983 RCV001787074 RCV001787075 RCV001787077 RCV001787078 RCV001787079 RCV001787080 RCV001787081 RCV001787082 RCV001787083 RCV001787084 RCV001787085 RCV001787087 RCV005867029 RCV001787230 RCV005007800 RCV002476901 RCV004795363 RCV000762901 RCV000000322 RCV000000324 RCV000000326 RCV000000330 RCV000000343 RCV002264852 RCV002264862 RCV002264865 RCV002264866 RCV002283816 RCV002283992 RCV002466792 RCV002466950 RCV001787115 RCV001787113 RCV001787112 RCV001787114 RCV001787111 RCV001787116 RCV005411561 RCV001787125	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
von Willebrand disorder	Pathogenic; Likely pathogenic	rs1481396407, rs61748481, rs267607328, rs267607331, rs61749395, rs61750071, rs61750077, rs61750112, rs61750606, rs267607355, rs61751286, rs267607364, rs61751301, rs61754000, rs1227349336, rs61750584, rs41276738, rs61750612, rs61751296, rs1944061491, rs1565831817, rs758895722, rs373787920, rs1591865617, rs751286556	RCV005408878 RCV006263663 RCV004586549 RCV005406821 RCV005237534 RCV005417961 RCV004700405 RCV005431469 RCV004700406 RCV006263664 RCV004782236 RCV003993804 RCV004700407 RCV005055578 RCV005419769 RCV005237342 RCV003987302 RCV005887121 RCV005237343 RCV004587505 RCV005240916 RCV005433493 RCV004701576 RCV004782541 RCV004586919	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
von Willebrand factor Vicenza	Pathogenic	rs121964895	RCV000000336	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
VWF-related disorder	Pathogenic; Likely pathogenic	rs61753984, rs61754003, rs267607305, rs121964895, rs61749385, rs61749395, rs61750074, rs61750078, rs61750606, rs61750624, rs61753997, rs61750584, rs61749403, rs41276738, rs61750595, rs61750612, rs2497390162, rs1414503929, rs1565832049, rs2497516912, rs758895722, rs2497300203, rs1591895308, rs751286556	RCV004739354 RCV004549525 RCV004739355 RCV004549527 RCV004739357 RCV004549529 RCV003335097 RCV004724806 RCV004549533 RCV004549534 RCV004739360 RCV004739270 RCV004547443 RCV004547445 RCV004739271 RCV004547446 RCV004547447 RCV004552508 RCV004548645 RCV004550595 RCV004548986 RCV004548906 RCV004550896 RCV004549840 RCV004549841	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BEHCET SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BERNARD-SOULIER SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRAL THROMBOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGESTIVE HEART FAILURE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EXANTHEMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOPHILIA A	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemorrhage	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary factor VIII deficiency disease	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heterotopia, periventricular, X-linked dominant	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	CTD, GWAS catalog CTD, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION, PREGNANCY-INDUCED	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTRACRANIAL THROMBOSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE, CHRONIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOUTH DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic adenocarcinoma	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL NEUROPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIVENTRICULAR HETEROTOPIA, X-LINKED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STEVENS-JOHNSON SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STOMATITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THROMBOCYTHEMIA, ESSENTIAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THROMBOSIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombus	Conflicting classifications of pathogenicity; risk factor	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	-; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VON WILLEBRAND DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VON WILLEBRAND DISEASE 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VON WILLEBRAND DISEASE 2	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VON WILLEBRAND DISEASE 3	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VON WILLEBRAND DISEASE, TYPE 1	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VON WILLEBRAND DISEASE, TYPE 2	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VON WILLEBRAND DISEASE, TYPE 2A	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VON WILLEBRAND DISEASE, TYPE 2B	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VON WILLEBRAND DISEASE, TYPE 2N	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VON WILLEBRAND DISEASE, TYPE 3	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ 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	10695766, 21943361		★☆☆☆☆ Found in Text Mining only
Acute Cerebrovascular Accidents	Stroke	BEFREE	19687510		★☆☆☆☆ Found in Text Mining only
Acute Coronary Syndrome	Coronary Syndrome	BEFREE	15670034, 31550669, 9506596		★☆☆☆☆ Found in Text Mining only
Acute Coronary Syndrome	Coronary Syndrome	LHGDN	16324758		★☆☆☆☆ Found in Text Mining only
Acute Kidney Insufficiency	Acute Kidney Insufficiency	BEFREE	26342041		★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	BEFREE	26612425		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	29334169, 30938058		★☆☆☆☆ Found in Text Mining only
Acute Megakaryocytic Leukemias	Megakaryocytic Leukemia	BEFREE	30052718		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	29299165		★☆☆☆☆ Found in Text Mining only
Adrenogenital Syndrome	Adrenogenital Syndrome	BEFREE	31028847		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	29334169, 30938058		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	17675241, 29367644		★☆☆☆☆ Found in Text Mining only
alpha 1-Antitrypsin Deficiency	Alpha 1-Antitrypsin Deficiency	BEFREE	31028847		★☆☆☆☆ Found in Text Mining only
Alternating hemiplegia of childhood	Alternating hemiplegia of childhood	Pubtator	28652401	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	31315437	Stimulate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	32812532	Associate	★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	27676646		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	32586411	Associate	★☆☆☆☆ Found in Text Mining only
Anaphylaxis	Anaphylaxis	Pubtator	27819553	Associate	★☆☆☆☆ Found in Text Mining only
Androgen-Insensitivity Syndrome	Androgen-Insensitivity Syndrome	BEFREE	29410644		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	19786614, 31378751		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	Pubtator	19786614, 34807970	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Sickle cell anemia	Pubtator	24182550	Stimulate	★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Sickle cell anemia	Pubtator	31648337	Associate	★☆☆☆☆ Found in Text Mining only
Anemia, Hemolytic	Anemia	BEFREE	28011677		★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	15795541, 25263931, 27613177, 28457019, 28969551, 31648337		★☆☆☆☆ Found in Text Mining only
Angina Unstable	Angina pectoris	Pubtator	12025897	Associate	★☆☆☆☆ Found in Text Mining only
Angina, Unstable	Intermediate coronary syndrome	BEFREE	31066256		★☆☆☆☆ Found in Text Mining only
Angiokeratoma	Angiokeratoma	Pubtator	31169171	Associate	★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	29899870		★☆☆☆☆ Found in Text Mining only
Anterior Cruciate Ligament Injuries	Anterior cruciate ligament injury	Pubtator	38160725	Associate	★☆☆☆☆ Found in Text Mining only
Antiphospholipid Syndrome	Antiphospholipid Syndrome	BEFREE	26759371, 29126301		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	30413751		★☆☆☆☆ Found in Text Mining only
Aortic valve calcification	Aortic valve calcification	BEFREE	30529828		★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic Valve Sclerosis	BEFREE	26791163, 28088607, 29194051, 29202604, 29285810, 29443370, 30009379, 30092557, 30722957, 31378751		★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic valve stenosis	Pubtator	36362368	Stimulate	★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic Valve Sclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	14717782, 1575209, 21342431, 22568520, 23075332, 24465435, 26368360, 27696392, 28634421, 29348121, 29898827, 30181741, 30347447, 30580083, 31450612, 31824501		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	31234583		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	15593185, 33977746	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	34456632	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	LHGDN	11864703		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	14717782, 1575209, 21342431, 22568520, 23075332, 24465435, 26368360, 27696392, 28502501, 28634421, 29348121, 29898827, 30181741, 30347447, 30580083, 31450612, 31824501		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	16455954, 25592833, 31450612, 31824501	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	27941341	Stimulate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	15056828, 20458440, 28134282, 28618874, 28713823, 28952167, 29164570, 29547930, 29558818, 29685722, 29979393, 30530119, 31740169, 31771966		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial fibrillation	Pubtator	15056828, 17322628, 24412254, 28306170	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	CTD_human_DG	17890461		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	LHGDN	17996280		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial fibrillation	Pubtator	21972893	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atypical Hemolytic Uremic Syndrome	Hemolytic Uremic Syndrome	BEFREE	24906628, 28748411, 31484852		★☆☆☆☆ Found in Text Mining only
Atypical Hemolytic Uremic Syndrome	Hemolytic uremic syndrome	Pubtator	31484852	Stimulate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	37492575	Associate	★☆☆☆☆ Found in Text Mining only
Barber Say syndrome	Barber Say Syndrome	BEFREE	7855797		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	LHGDN	15849757		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bernard Soulier Syndrome	Bernard-soulier syndrome	Pubtator	15609295, 1694864, 21173099, 28395735, 35055070, 7690774, 9423819	Associate	★☆☆☆☆ Found in Text Mining only
Bernard Soulier Syndrome	Bernard-soulier syndrome	Pubtator	25370924	Stimulate	★☆☆☆☆ Found in Text Mining only
Bernard-Soulier Syndrome	Bernard Soulier Syndrome	BEFREE	10089893, 10583255, 10590056, 10928480, 11222377, 12447957, 12463594, 14717981, 15609295, 17083647, 17763149, 23414566, 23995613, 24934643, 25370924, 28395735, 29227167, 7579348, 7660135, 7855797, 8049428, 8481514, 8950770, 8972003, 9163595		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
beta^0^ Thalassemia	beta Thalassemia	BEFREE	2106777		★☆☆☆☆ Found in Text Mining only
BETHLEM MYOPATHY 1	Bethlem Myopathy	BEFREE	9536084		★☆☆☆☆ Found in Text Mining only
Bile Duct Diseases	Bile duct disease	Pubtator	40596471	Associate	★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood Coagulation Disorders	BEFREE	10583255, 10595636, 10928480, 11212329, 11686102, 11756169, 12463594, 12551832, 12637314, 1373334, 1400069, 14754609, 15029274, 1566742, 1615500, 16702040, 1673047, 1673793, 16870550, 16977566, 17083647, 17701477, 18333841, 18929522, 19083526, 19085651, 1911886, 19473418, 19506363, 19959486, 20680227, 20680229, 20854374, 2106777, 21148813, 21193108, 21244826, 21264446, 21497427, 21781257, 22102188, 22102194, 22102198, 22329792, 22389132, 22722677, 23020315, 23398618, 23406206, 23995613, 24270421, 24762278, 25185554, 25477497, 25696905, 25810255, 26019279, 26215113, 26486471, 27427955, 27472426, 27628010, 27676646, 2786201, 28306198, 28696025, 28868583, 2898953, 29064615, 29165738, 29166373, 29378695, 29734512, 29742318, 29925524, 29941674, 30159948, 30312027, 30645640, 30722078, 30866149, 30867356, 30916034, 30945453, 30978134, 31240882, 31350816, 31371154, 31443861, 7948966, 8456430, 8767102, 8986815, 9759493		★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood coagulation disorder	Pubtator	1906877, 32106291, 32758992, 33991637, 36507906, 36611985, 36944974, 36980889, 38320121	Associate	★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood coagulation disorder	Pubtator	36991043	Stimulate	★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders Inherited	Blood coagulation disorder	Pubtator	2584182	Associate	★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet disorder	Pubtator	10814631, 11674857, 11682459, 12637314, 15681423, 17155947, 18369690, 18443791, 18776767, 19286880, 19786614, 2394830, 28934202, 29242293, 30366922, 32234826, 32586411, 32603422, 32920806, 3487353, 35001370, 38320121	Associate	★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet-type bleeding disorder	BEFREE	24270421		★☆☆☆☆ Found in Text Mining only
Body Weight	Body weight	Pubtator	22207689, 32609846	Associate	★☆☆☆☆ Found in Text Mining only
Bowen-Conradi syndrome	Bowen-Conradi Syndrome	BEFREE	15578624		★☆☆☆☆ Found in Text Mining only
Brain Infarction	Brain infarction	Pubtator	17322628	Associate	★☆☆☆☆ Found in Text Mining only
Brain Thrombosis	Cerebral Thrombosis	CTD_human_DG	3111251		★☆☆☆☆ Found in Text Mining only
Brain Thrombus	Cerebral Thrombus	CTD_human_DG	3111251		★☆☆☆☆ Found in Text Mining only
Breast cancer, lobular	Breast Cancer	BEFREE	31018945		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	31018945		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	31018945, 37268731, 39379897, 39529627	Associate	★☆☆☆☆ Found in Text Mining only
Brooke-Spiegler syndrome	Brooke-Spiegler Syndrome	BEFREE	7855797		★☆☆☆☆ Found in Text Mining only
Capillary malformation (disorder)	Capillary malformation	BEFREE	15900153		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	36359790	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	18300343	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	37958632	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	11953822	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Lobular	Lobular carcinoma	Pubtator	31018945	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	28927148		★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	17965528	Associate	★☆☆☆☆ Found in Text Mining only
Cardioembolic stroke	Cardioembolic Stroke	BEFREE	28409234		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	12792699, 16458279, 19439298, 20008188, 20940418, 21156930, 21342431, 21810271, 21937160, 23159842, 24825749, 25779970, 26368360, 27480067, 27628010, 28122514, 28155617, 28403644, 28446234, 28570705, 29431889, 29615758, 29936324, 30938758, 31145835, 31760507		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular Diseases	Cardiovascular disease	Pubtator	12792699, 20940418, 21156930, 23733198, 25779970, 29685722, 31557676, 35242298, 36474435, 38203423	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular Diseases	Cardiovascular Diseases	CTD_human_DG	16332659		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular Diseases	Cardiovascular disease	Pubtator	26368360	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carotid Artery Diseases	Carotid artery disease	Pubtator	35242298	Associate	★☆☆☆☆ Found in Text Mining only
Carotid Artery Thrombosis	Carotid artery thrombosis	Pubtator	31450612	Associate	★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Carotid artery stenosis	BEFREE	28135035, 28320178, 31557676		★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Carotid artery stenosis	Pubtator	31557676, 32932544	Associate	★☆☆☆☆ Found in Text Mining only
Central visual impairment	Central Visual Impairment	BEFREE	29377939		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	19687510		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	28495826	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Small Vessel Diseases	Cerebral microangiopathy	Pubtator	27576214	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Thrombosis	Cerebral Thrombosis	CTD_human_DG	3111251		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral Thrombus	Cerebral Thrombus	CTD_human_DG	3111251		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	16097850, 16990571, 17630485, 19687510, 20933620, 2105544, 22257027, 23225307, 27317583, 27412500, 27772541, 28409234, 28428179, 28495826, 28570705, 28618874, 28952167, 29685722, 29847840, 29866815, 30593735, 30899379, 31771966, 9227689, 9506596		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	LHGDN	16990571		★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular Disorders	BEFREE	28476896, 28618874		★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular disorder	Pubtator	28476896, 28495826, 35242298	Associate	★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	29334169, 30938058		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	35758372	Associate	★☆☆☆☆ Found in Text Mining only
Cholangitis	Cholangitis	BEFREE	28628948		★☆☆☆☆ Found in Text Mining only
Cholangitis Sclerosing	Sclerosing cholangitis	Pubtator	39969330	Inhibit	★☆☆☆☆ Found in Text Mining only
Chronic heart failure	Heart Failure	BEFREE	28043678		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	22091998, 30026593		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	22091998, 30026593, 30081388		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	27472040		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	LHGDN	17622488		★☆☆☆☆ Found in Text Mining only
Chronic rhinosinusitis with nasal polyps	Rhinosinusitis With Nasal Polyps	BEFREE	30091854		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	14961153, 19908110, 28527913, 28716745, 29377193, 29972862, 30281535, 30768435, 31498279, 31832759		★☆☆☆☆ Found in Text Mining only
Coagulation factor deficiency syndrome	Coagulation Factor Deficiency Syndrome	BEFREE	17762534		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	32812532	Associate	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	31038478	Stimulate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	10629090		★☆☆☆☆ Found in Text Mining only
Colonic Diseases	Colonic disease	Pubtator	24236063	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	29304532, 30542696		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	36510452	Associate	★☆☆☆☆ Found in Text Mining only
Comedone	Comedone	BEFREE	10652623		★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	30976044		★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	9074430	Associate	★☆☆☆☆ Found in Text Mining only
Congenital adrenal hyperplasia	Congenital adrenal hyperplasia	BEFREE	31028847		★☆☆☆☆ Found in Text Mining only
Congenital anomaly of face	Facial dysmorphism	BEFREE	15213848		★☆☆☆☆ Found in Text Mining only
Congenital arteriovenous malformation	Congenital Arteriovenous Malformation	BEFREE	17016610, 24771337		★☆☆☆☆ Found in Text Mining only
Congenital disorder of glycosylation type 2E	Congenital disorder of glycosylation	Pubtator	19286880, 23621778	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	22985731, 28981194		★☆☆☆☆ Found in Text Mining only
Congenital heart disease	Congenital Heart Disease	BEFREE	28981194		★☆☆☆☆ Found in Text Mining only
Congenital Thrombotic Thrombocytopenic Purpura	Congenital Thrombotic Thrombocytopenic Purpura	BEFREE	10397728, 11530799, 12656756, 14512317, 14652658, 14727262, 15284596, 15551280, 15774620, 15869605, 18083848, 20032502, 20539230, 23420593, 23937165, 24033710, 25442981, 26342041, 26791163, 27040023, 28652401, 29040872, 30776151		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	CTD_human_DG	22352330		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congestive heart failure	Congestive Heart Failure	BEFREE	28043678, 28674146, 29507883, 29685722, 31147187		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Connective Tissue Diseases	Connective Tissue Disease	BEFREE	26759371		★☆☆☆☆ Found in Text Mining only
Coronary Aneurysm	Coronary Aneurysm	BEFREE	31760507		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	10446495, 10760079, 11532189, 11736957, 12792699, 14717782, 16320153, 17619827, 21848660, 22568520, 22923007, 27655998, 28409234, 29703054, 30586737, 9519344		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	10446495, 10760079, 11736957, 12792699, 14717782, 16320153, 17023678, 22568520, 22923007, 27536857, 28409234, 29409455, 29703054, 30586737, 9396417, 9519344		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	Pubtator	11736957, 22780915	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	Pubtator	36362368	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Disease	Coronary artery disease	Pubtator	10760079, 14717782, 20940418, 22568520, 32007502	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	10446495, 10760079, 11736957, 12792699, 14717782, 16320153, 20940418, 22568520, 22923007, 28409234, 30586737, 9031455, 9519344		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	LHGDN	16320153		★☆☆☆☆ Found in Text Mining only
Coronary Stenosis	Coronary Stenosis	BEFREE	30181741		★☆☆☆☆ Found in Text Mining only
Coronary Thrombosis	Coronary Thrombosis	BEFREE	11514372		★☆☆☆☆ Found in Text Mining only
Cortical cataract	Cortical cataract	BEFREE	21304226		★☆☆☆☆ Found in Text Mining only
Craniocerebral Trauma	Craniocerebral trauma	Pubtator	36813871	Associate	★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	28924019		★☆☆☆☆ Found in Text Mining only
Critical Illness	Critical illness	Pubtator	33141764	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	28765701		★☆☆☆☆ Found in Text Mining only
Cushing Syndrome	Cushing`s Syndrome	BEFREE	18173757, 20156642, 20614575, 21304226, 22585010, 22688555		★☆☆☆☆ Found in Text Mining only
Cushing Syndrome	Cushing syndrome	Pubtator	18173757	Associate	★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	26993521		★☆☆☆☆ Found in Text Mining only
Deep Vein Thrombosis	Thrombosis	BEFREE	10886197, 18600090, 20682599, 20959603, 23648131, 28739590		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	27865793		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	29615758		★☆☆☆☆ Found in Text Mining only
Dementia, Vascular	Dementia	BEFREE	31096308		★☆☆☆☆ Found in Text Mining only
Dentatorubral-Pallidoluysian Atrophy	Dentatorubral Pallidoluysian Atrophy	BEFREE	8557270		★☆☆☆☆ Found in Text Mining only
Depressive Disorder Major	Major depressive disorder	Pubtator	26171980	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	30701557	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	27655998, 27787621, 8862946		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	10760079, 23383177, 23733198, 35592524	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	22972845, 25814526, 27655998, 27787621, 28446234, 28495930, 29409455, 30181741, 8862946		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	22972845	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	10760079, 36754679	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	23249721	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	23383177	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	10760079, 15699509		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	12190891, 12381897, 16320153, 27787621, 30868261, 30904010, 31145835, 8862946, 8901668		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	LHGDN	19029465		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	10760079, 32778679	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	10760079, 28495930		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	8113010		★☆☆☆☆ Found in Text Mining only
Disseminated Intravascular Coagulation	Disseminated Intravascular Coagulation	BEFREE	31758651		★☆☆☆☆ Found in Text Mining only
Disseminated Intravascular Coagulation	Disseminated intravascular coagulation	Pubtator	36813871	Associate	★☆☆☆☆ Found in Text Mining only
Ehlers-Danlos Syndrome	Ehlers-Danlos Syndrome	BEFREE	28674146		★☆☆☆☆ Found in Text Mining only
Emphysema	Emphysema	Pubtator	32210548	Associate	★☆☆☆☆ Found in Text Mining only
Encephalomyelitis Acute Disseminated	Acute disseminated encephalomyelitis	Pubtator	34685765	Associate	★☆☆☆☆ Found in Text Mining only
Endocarditis	Endocarditis	BEFREE	26743845, 30280967, 31230737		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	27695098		★☆☆☆☆ Found in Text Mining only
Eosinophilic Esophagitis	Eosinophilia	Pubtator	35839075	Associate	★☆☆☆☆ Found in Text Mining only
Epileptic Encephalopathy Early Infantile 4	Developmental and epileptic encephalopathy	Pubtator	24700782	Inhibit	★☆☆☆☆ Found in Text Mining only
Erectile dysfunction	Erectile Dysfunction	BEFREE	29486902		★☆☆☆☆ Found in Text Mining only
Esophageal Varices	Esophageal varix	BEFREE	30281535		★☆☆☆☆ Found in Text Mining only
Exocrine pancreatic insufficiency	Exocrine pancreatic insufficiency	BEFREE	31262040		★☆☆☆☆ Found in Text Mining only
Exudative age-related macular degeneration	Exudative Macular Degeneration	BEFREE	29367644		★☆☆☆☆ Found in Text Mining only
Fabry Disease	Fabry disease	BEFREE	30470436		★☆☆☆☆ Found in Text Mining only
Factor 8 deficiency, acquired	Factor VIII deficiency	BEFREE	31808848		★☆☆☆☆ Found in Text Mining only
Factor VIII Deficiency	Factor VIII Deficiency	BEFREE	10688827, 11686103		★☆☆☆☆ Found in Text Mining only
Factor XII Deficiency	Factor XII Deficiency	BEFREE	1996556		★☆☆☆☆ Found in Text Mining only
Factor XIII Deficiency	Factor xiii deficiency	Pubtator	26342041	Associate	★☆☆☆☆ Found in Text Mining only
Febrile Convulsions	Febrile seizures	BEFREE	30605489		★☆☆☆☆ Found in Text Mining only
Fibrinogen Deficiency	Fibrinogen Deficiency	BEFREE	30097224		★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	LHGDN	12215337		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	27748901, 28377286, 28527913, 30386613		★☆☆☆☆ Found in Text Mining only
Foramen Ovale, Patent	Patent foramen ovale	BEFREE	16097850		★☆☆☆☆ Found in Text Mining only
Fuchs' Endothelial Dystrophy	Fuchs endothelial dystrophy	Pubtator	31847785	Associate	★☆☆☆☆ Found in Text Mining only
Gastric Varix	Gastric Varix	BEFREE	30907172		★☆☆☆☆ Found in Text Mining only
Gastrointestinal angiodysplasia	Gastrointestinal angiodysplasia	BEFREE	15571600, 28729354, 30009379		★☆☆☆☆ Found in Text Mining only
Gastrointestinal angiodysplasia	Gastrointestinal angiodysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Genitourinary Cancer	Genitourinary Cancer	BEFREE	28822718		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	Pubtator	24954072	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	30938185		★☆☆☆☆ Found in Text Mining only
Glaucoma Open Angle	Open angle glaucoma	Pubtator	24954072	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	24868550, 27236861, 31991805	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	30292037, 30312827		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	30292037, 30312827		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	28035064, 29584591, 31803626		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	29584591, 33545987	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	30701557		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis, Membranoproliferative	Glomerulonephritis	BEFREE	19640589		★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease	Glycogen Storage Disease	LHGDN	16435187		★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type I	Glycogen Storage Disease	BEFREE	16435187		★☆☆☆☆ Found in Text Mining only
Glycogen storage disease type Ia	Glycogen Storage Disease	BEFREE	16435187		★☆☆☆☆ Found in Text Mining only
Glycogen storage disease type II	Glycogen Storage Disease	BEFREE	29367644		★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type VI	Glycogen Storage Disease	BEFREE	15551280		★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease XIV	Glycogen storage disease	Pubtator	30701557	Associate	★☆☆☆☆ Found in Text Mining only
Gray Platelet Syndrome	Graves ophthalmopathy	Pubtator	19410025	Associate	★☆☆☆☆ Found in Text Mining only
Hallucinations	Hallucinations	BEFREE	31511061		★☆☆☆☆ Found in Text Mining only
Hamartoma Syndrome, Multiple	Hamartoma	BEFREE	21304226, 31057027		★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	22914812	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	15056828, 22923007, 30458570		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	15056828	Stimulate	★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	16185922, 34003485	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart failure	Heart Failure	CTD_human_DG	22352330		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart failure	Heart Failure	BEFREE	28674146, 29507883, 29685722, 31147187		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Failure, Right-Sided	Heart Failure	CTD_human_DG	22352330		★☆☆☆☆ Found in Text Mining only
Heart Failure, Right-Sided	Heart Failure	BEFREE	28957820		★☆☆☆☆ Found in Text Mining only
Heart valve disease	Cardiac valvular disease	BEFREE	28481153, 30846101		★☆☆☆☆ Found in Text Mining only
Heart Valve Diseases	Heart valve disease	Pubtator	15056828	Stimulate	★☆☆☆☆ Found in Text Mining only
HELLP Syndrome	HELLP Syndrome	BEFREE	29296808		★☆☆☆☆ Found in Text Mining only
Hemangiosarcoma	Hemangiosarcoma	BEFREE	10640966, 30360911		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	28823228		★☆☆☆☆ Found in Text Mining only
Hematological Disease	Hematological Disease	BEFREE	15774620		★☆☆☆☆ Found in Text Mining only
Hemoglobinopathies	Hemoglobinopathy	BEFREE	2106777		★☆☆☆☆ Found in Text Mining only
Hemolytic Uremic Syndrome	Hemolytic uremic syndrome	Pubtator	10397728, 15327386	Associate	★☆☆☆☆ Found in Text Mining only
Hemolytic Uremic Syndrome	Hemolytic uremic syndrome	Pubtator	33641611	Stimulate	★☆☆☆☆ Found in Text Mining only
Hemolytic-Uremic Syndrome	Hemolytic Uremic Syndrome	BEFREE	10397728, 10595623, 11843286, 15551280, 19190808, 20539230, 8767102, 9828245		★☆☆☆☆ Found in Text Mining only
Hemophilia A	Hemophilia	BEFREE	10469177, 10688827, 11686103, 12201837, 15094932, 1566742, 17211843, 17456630, 18024377, 18449422, 18929522, 1906179, 20374449, 21371195, 21425451, 21920013, 24504736, 24797664, 25780857, 25955153, 27380589, 27825181, 28691218, 28750474, 28920105, 29212111, 29314439, 29410404, 29453814, 29520365, 29543371, 30378120, 30609275, 3085744, 30924607, 31026269, 31349985, 31350267, 31648354, 8500791, 8874865, 8903002, 9692396, 9873890		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemophilia A	Hemophilia a	Pubtator	10910913, 11918545, 15471879, 18691168, 19221656, 20374449, 25780857, 26244499, 2971673, 31026269, 3133808, 31350267, 33190257, 36775768, 37017006	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemophilia, NOS	Hemophilia	BEFREE	21425451, 28750474, 29212111, 29543371, 31026269, 8500791, 9873890		★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	11159522, 12080112, 15099289, 15226188, 16985174, 17109387, 17596142, 18041654, 18805962, 19172521, 19687512, 19959486, 20492463, 2104761, 22479377, 22792389, 23216583, 23311757, 23496210, 25477497, 25673639, 25832887, 26582038, 26862110, 26986123, 27414491, 28453889, 28544236, 28586149, 30645640, 31834934, 3257148, 32640909, 33385180, 34807970, 35143643, 35246944, 35343054, 35466528, 35521725, 35596664, 35741733, 35776905, 36121439, 37017006, 38040335, 3877533, 39510415, 40279514, 8282841, 8324222	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemorrhage	Hemorrhage	Pubtator	33662989, 40434960	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemorrhagic Disorders	Hemorrhagic disease	Pubtator	2104761	Associate	★☆☆☆☆ Found in Text Mining only
Hemorrhagic Disorders	Hemorrhagic Disorders	BEFREE	28789675, 29443370, 30586737, 8237996		★☆☆☆☆ Found in Text Mining only
Hemorrhoids	Hemorrhoid	Pubtator	40114371	Associate	★☆☆☆☆ Found in Text Mining only
Hepatic Veno Occlusive Disease	Hepatic veno occlusive disease	Pubtator	21330458	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis Alcoholic	Alcoholic hepatitis	Pubtator	33954832	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis B Chronic	Hepatitis b	Pubtator	36002595	Inhibit	★☆☆☆☆ Found in Text Mining only
Hereditary Factor XI Deficiency	Hereditary Factor XI Deficiency	BEFREE	7792729		★☆☆☆☆ Found in Text Mining only
Hermanski-Pudlak Syndrome	Hermansky-Pudlak Syndrome	BEFREE	8237996		★☆☆☆☆ Found in Text Mining only
High altitude pulmonary edema	High Altitude Pulmonary Edema	BEFREE	26047609		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	28029003		★☆☆☆☆ Found in Text Mining only
Homocystinuria	Homocystinuria	BEFREE	7701480		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	25822971, 28029003		★☆☆☆☆ Found in Text Mining only
Hyalinosis, Systemic	Hyalinosis	BEFREE	12973667		★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	BEFREE	14709855		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	LHGDN	12036879		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	9519344		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	25715248, 25814526, 26022048, 28366840		★☆☆☆☆ Found in Text Mining only
Hypersensitivity Immediate	Hypersensitivity	Pubtator	11756169	Inhibit	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	35242298, 38103737, 9708474	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	CTD_human_DG	12149661, 12425201, 22352330		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	BEFREE	17137217, 18680527, 27655998, 29621786, 29767844, 29936324, 8862946, 9306351, 9708474		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperthyroidism	Hyperthyroidism	BEFREE	29573126, 9291833		★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Hyperthyroidism	Pubtator	34210154	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	LHGDN	18809794		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	31230737		★☆☆☆☆ Found in Text Mining only
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	31230737		★☆☆☆☆ Found in Text Mining only
Hypofibrinogenemia	Hypofibrinogenemia	BEFREE	9519344		★☆☆☆☆ Found in Text Mining only
Hypophosphatemic Rickets Autosomal Dominant	Hypophosphatemic rickets	Pubtator	9389727	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	33351148	Stimulate	★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	28641568, 29369739		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	16936446, 31640794	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	31640794		★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	9306351		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	35875995	Associate	★☆☆☆☆ Found in Text Mining only
Immune thrombocytopenic purpura	Immune Thrombocytopenic Purpura	BEFREE	22102188, 29182425		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	14581802, 28765701		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	25878173, 39969330	Associate	★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial aneurysm	Pubtator	39215680	Stimulate	★☆☆☆☆ Found in Text Mining only
Intracranial Thrombosis	Intracranial Thrombosis	CTD_human_DG	3111251		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Invasive Ductal Breast Carcinoma	Invasive Duct and Lobular Carcinoma	BEFREE	31018945		★☆☆☆☆ Found in Text Mining only
Ischemic Attack Transient	Transient ischemic attack	Pubtator	29385837	Associate	★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	11755948, 12325470, 16990571, 20940418, 21342431, 22858724, 28320178, 28409234, 28487393, 28495826, 29618156, 29847840, 30582456		★☆☆☆☆ Found in Text Mining only
Ischemic Stroke	Ischemic stroke	Pubtator	38296159	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	10760079, 3388295		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	10760079, 16771247	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	14727262		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	31594992		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	22091998, 30026593, 312998		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Left-Sided Heart Failure	Heart Failure	CTD_human_DG	22352330		★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	36066972	Associate	★☆☆☆☆ Found in Text Mining only
Leishmaniasis	Leishmaniasis	Pubtator	23440109	Associate	★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	Pubtator	29565968	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	26612425		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	33299888, 35935313	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	10607717		★☆☆☆☆ Found in Text Mining only
Leukocytoclastic vasculitis	Leukocytoclastic Vasculitis	BEFREE	23812299		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	30386613, 30428508, 31139312, 31322547, 31638892		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	14961153, 17090649, 19908110, 28527913, 28716745, 29377193, 29972862, 30281535, 30768435, 31139312, 31498279, 31832759		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	36002595	Inhibit	★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis Biliary	Liver cirrhosis	Pubtator	40596471	Associate	★☆☆☆☆ Found in Text Mining only
Liver Diseases Alcoholic	Liver disease	Pubtator	33954832	Stimulate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	33991637	Stimulate	★☆☆☆☆ Found in Text Mining only
Liver Failure, Acute	Liver failure	BEFREE	28868583		★☆☆☆☆ Found in Text Mining only
Long QT Syndrome	Long qt syndrome	Pubtator	35001370	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	15467717, 32210548	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases Interstitial	Lung disease	Pubtator	16936446	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases, Interstitial	Lung Diseases	BEFREE	29130325		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	15816602		★☆☆☆☆ Found in Text Mining only
Lupus anticoagulant disorder	Lupus anticoagulant	BEFREE	15115259, 2105544, 26864875, 29675623, 8689338		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	22405175		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	25401491, 8572736	Stimulate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	34646335	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	22405175		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	22405175, 28512017, 31815811, 6508862		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus nephritis	Pubtator	27716443	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	22405175		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic Metastasis	BEFREE	27602496		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	32196607	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	26612425		★☆☆☆☆ Found in Text Mining only
Macrothrombocytopenia	Macrothrombocytopenia	BEFREE	10089893, 23414566, 27734030		★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	29367644, 34620972	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	31018945		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	28927148		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	25886574		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	27602496, 28035064, 28587726, 29165741, 29362409, 29431889, 29974375, 30190423, 30365187, 30428508, 31029024, 31711834		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	16568319, 16796708		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	11914659		★☆☆☆☆ Found in Text Mining only
Marfan Syndrome	Marfan Syndrome	BEFREE	31737529		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	1707057, 20505748, 22032772, 2447074, 37258039	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	BEFREE	20505748		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mesothelioma Malignant	Mesothelioma	Pubtator	37832118	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	25646961	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	25646961, 30519274, 30904010, 8862946		★☆☆☆☆ Found in Text Mining only
Microvascular Angina	Microvascular angina	Pubtator	28652401, 35521725	Associate	★☆☆☆☆ Found in Text Mining only
Microvascular Angina	Microvascular angina	Pubtator	34966385	Stimulate	★☆☆☆☆ Found in Text Mining only
Microvillus inclusion disease	Microvillus Inclusion Disease	BEFREE	29880488		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	16097850, 19298544, 30645751		★☆☆☆☆ Found in Text Mining only
Migraine with Aura	Migraine with Aura	BEFREE	28181217		★☆☆☆☆ Found in Text Mining only
Mitral Valve Prolapse Syndrome	Mitral Valve Prolapse	HPO_DG			★☆☆☆☆ Found in Text Mining only
Monoclonal Gammopathy of Undetermined Significance	Monoclonal Gammapathies	BEFREE	26791163		★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	BEFREE	31055186, 31760507		★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	11686102, 16634745, 16862529, 16889557, 16985174, 17190853, 19372260, 22197721, 23401897, 24319188, 2563148, 26288715, 3495304		★☆☆☆☆ Found in Text Mining only
Multiple Epiphyseal Dysplasia	Multiple Epiphyseal Dysplasia	BEFREE	11479597, 15459972, 26499313		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	30845824		★☆☆☆☆ Found in Text Mining only
Myasthenic Syndromes Congenital	Myasthenic syndrome	Pubtator	16796708	Inhibit	★☆☆☆☆ Found in Text Mining only
Myocardial Failure	Myocardial Infarction	CTD_human_DG	22352330		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	11736957, 12534452, 15166945, 16168297, 16337503, 16684956, 17619827, 19706887, 21342431, 26771163, 27317583, 28391888, 30366922, 30471507, 30656600, 30987839		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	11736957, 15670033, 16697311, 30366922	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	LHGDN	17053057, 17619827, 18194418		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	11532189, 12190891, 16990571, 17644573, 21848660, 29874180		★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	36507906	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10232610, 10411932, 10629090, 11916242, 15467717, 15740644, 19509267, 22732316, 24236063, 25886574, 26662185, 27557492, 27602496, 28362240, 28587726, 29165741, 29299165, 30176826, 30971453, 31099074, 31444972, 31453327, 31638892		★☆☆☆☆ Found in Text Mining only
Nephrogenic Diabetes Insipidus	Nephrogenic Diabetes Insipidus	BEFREE	14709855, 3132483		★☆☆☆☆ Found in Text Mining only
Nephrogenic Diabetes Insipidus, Type I	Nephrogenic Diabetes Insipidus	BEFREE	14709855, 3132483		★☆☆☆☆ Found in Text Mining only
Nephrogenic Syndrome of Inappropriate Antidiuresis	Nephrogenic Syndrome Of Inappropriate Antidiuresis	BEFREE	21834801		★☆☆☆☆ Found in Text Mining only
Neurofibromatoses	Neurofibromatosis	Pubtator	28453889	Associate	★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	28374895, 30190423, 30259978		★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	10652623		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	14629465, 21481180	Stimulate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	21797965, 28262235, 29986373		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	38203423	Associate	★☆☆☆☆ Found in Text Mining only
Osteogenesis imperfecta type 2A	Osteogenesis imperfecta	Pubtator	11159522, 17155947, 20351307, 23539537, 27532107	Associate	★☆☆☆☆ Found in Text Mining only
Osteogenesis imperfecta type 3	Osteogenesis imperfecta	Pubtator	23539537	Associate	★☆☆☆☆ Found in Text Mining only
Osteoglophonic dwarfism	Osteoglosphonic dysplasia	BEFREE	27380043		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	37203779	Stimulate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	15467717, 28035064, 30279208, 31099074		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	15467717, 30279208	Associate	★☆☆☆☆ Found in Text Mining only
Ostium secundum atrial septal defect	Secundum atrial septal defect	BEFREE	16097850		★☆☆☆☆ Found in Text Mining only
Ovarian Hyperstimulation Syndrome	Ovarian Hyperstimulation Syndrome	BEFREE	7775647		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	35735060	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	Pubtator	35745003	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis, Acute Necrotizing	Necrotizing pancreatitis	BEFREE	31037357		★☆☆☆☆ Found in Text Mining only
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	BEFREE	15087601		★☆☆☆☆ Found in Text Mining only
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	CTD_human_DG	17890461		★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	BEFREE	30480800		★☆☆☆☆ Found in Text Mining only
Pemphigus	Pemphigus	Pubtator	39593117	Associate	★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	36072904	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Disease	Peripheral arterial disease	Pubtator	24913105, 32847391	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Disease	Peripheral arterial disease	Pubtator	29587258	Stimulate	★☆☆☆☆ Found in Text Mining only
Peripheral Vascular Diseases	Vascular Diseases	BEFREE	30987839		★☆☆☆☆ Found in Text Mining only
PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS	Pigmentary Disorder, Reticulate, With Systemic Manifestations	BEFREE	12381897, 23798676		★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	24222652	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	19261277	Associate	★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia Vera	BEFREE	21539404		★☆☆☆☆ Found in Text Mining only
Portal Hypertension	Portal Hypertension	BEFREE	29377193, 30281535, 30428508, 30768435, 31365764, 31473610, 31832759		★☆☆☆☆ Found in Text Mining only
Portal Vein Thrombosis	Portal Vein Thrombosis	BEFREE	21848660		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	29615758		★☆☆☆☆ Found in Text Mining only
Proliferative diabetic retinopathy	Proliferative Diabetic Retinopathy	BEFREE	12381897, 23798676		★☆☆☆☆ Found in Text Mining only
Protein C Deficiency	Protein C Deficiency	BEFREE	10650845		★☆☆☆☆ Found in Text Mining only
Protein S Deficiency	Protein S Deficiency	BEFREE	28331932		★☆☆☆☆ Found in Text Mining only
Pseudoxanthoma Elasticum	Pseudoxanthoma elasticum	BEFREE	9830808		★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	20808962	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	32210548, 32731895, 32758992	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	34479474	Stimulate	★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary fibrosis	Pubtator	34479474	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Stenosis	Pulmonary Stenosis	BEFREE	22985731		★☆☆☆☆ Found in Text Mining only
Purpura, Thrombotic Thrombocytopenic	Thrombotic thrombocytopenic purpura	BEFREE	10339486, 10397728, 10595623, 11380451, 11586351, 11843286, 12105394, 12172456, 12393399, 12393505, 12395148, 12576319, 12615692, 12656756, 12753286, 14512317, 14652658, 14727254, 14727256, 14727257, 14727262, 14976043, 15009067, 15045144, 15497097, 15521921, 15662617, 15774620, 16388413, 16568319, 16760911, 16796708, 16807643, 17426255, 18083848, 18756543, 19180123, 19640589, 19786614, 20032502, 20058209, 20539230, 20644116, 20807612, 22022775, 22529289, 23233642, 23420593, 23621748, 24713928, 25587650, 26613809, 26759371, 26771163, 26791163, 27040023, 27246502, 28011677, 28337761, 28369949, 28382967, 28447417, 28521259, 28662310, 28768626, 28969551, 28981198, 29228282, 29250148, 29636514, 29847840, 30208220, 30471507, 30504355, 30551950, 30776151, 31330376, 31753928, 8767102, 9129011, 9423794		★☆☆☆☆ Found in Text Mining only
Purpura, Thrombotic Thrombocytopenic	Thrombotic thrombocytopenic purpura	LHGDN	14727254		★☆☆☆☆ Found in Text Mining only
Raynaud Disease	Raynaud disease	Pubtator	38302542	Associate	★☆☆☆☆ Found in Text Mining only
Raynaud Phenomenon	Raynaud Phenomenon	BEFREE	28450106, 30684190		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	23159842		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	BEFREE	29697443, 31099973, 31822372		★☆☆☆☆ Found in Text Mining only
RETINOSCHISIS 1, X-LINKED, JUVENILE	Retinoschisis, X-Linked	BEFREE	30796650		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	15593185, 28648867, 31234583, 6508862		★☆☆☆☆ Found in Text Mining only
Sarcoma Kaposi	Sarcoma	Pubtator	3258899	Stimulate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	28815548, 28974776		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	28974776	Associate	★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Systemic sclerosis	Pubtator	26360820	Associate	★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	31028847		★☆☆☆☆ Found in Text Mining only
Sepsis	Sepsis	Pubtator	19812385	Stimulate	★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	20390223, 24504734, 29337416, 30159948, 30589495, 31013257, 31086585, 31140293, 31758651		★☆☆☆☆ Found in Text Mining only
Sleep Apnea Obstructive	Sleep apnea	Pubtator	31210414, 33351148	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Apnea Syndromes	Sleep Apnea	BEFREE	29617910		★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	31210414		★☆☆☆☆ Found in Text Mining only
Spondylitis Ankylosing	Ankylosing spondylitis	Pubtator	40591022	Stimulate	★☆☆☆☆ Found in Text Mining only
Spondyloepimetaphyseal disorder	Spondyloepimetaphyseal dysplasia	BEFREE	26499313		★☆☆☆☆ Found in Text Mining only
Stable angina	Stable Angina	BEFREE	31066256		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	25886574		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	33178362, 39456895	Associate	★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	22257027, 28495826, 29685722, 31557676	Associate	★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	28102428, 29257200, 29729651		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	11093443, 26360820, 28217887, 29130325		★☆☆☆☆ Found in Text Mining only
Thrombasthenia	Thrombasthenia	BEFREE	6310559		★☆☆☆☆ Found in Text Mining only
Thrombocythemia Essential	Essential thrombocythemia	Pubtator	19508974	Associate	★☆☆☆☆ Found in Text Mining only
Thrombocytopenia	Thrombocytopenia	Pubtator	12637314, 16720832, 18805962, 25185554, 29734512, 3028536, 34942660, 35521725, 39343102, 40434960	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thrombocytopenia Neonatal Alloimmune	Thrombocytopenia	Pubtator	28436749	Associate	★☆☆☆☆ Found in Text Mining only
Thrombocytosis	Thrombocytosis	BEFREE	29240268, 29304532, 31617211		★☆☆☆☆ Found in Text Mining only
Thromboembolism	Thromboembolism	Pubtator	29685722	Stimulate	★☆☆☆☆ Found in Text Mining only
Thromboembolism	Thromboembolism	Pubtator	30366922, 33385180	Associate	★☆☆☆☆ Found in Text Mining only
Thrombophilia	Thrombophilia	BEFREE	15735796, 15795541, 16097850, 17393014, 18173757, 19398413, 20614575, 21304226, 22405175, 22688555, 23159842, 28374895, 28823228, 31139312, 31237986		★☆☆☆☆ Found in Text Mining only
Thrombophilia	Thrombophilia	Pubtator	32234826, 36696209, 38225453	Associate	★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	11418460, 14521605, 15056828, 15606555, 18826391, 23216583, 23383177, 23555663, 23648131, 28495826, 28652401, 31450612, 33107067, 33351148, 34685765, 35001370, 35246944, 35491445, 36813871, 36944974, 36980889, 37857225, 38203423, 38296159, 38320121, 39694444	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombosis	Thrombosis	Pubtator	24412254	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombotic Microangiopathies	Thrombotic Microangiopathies	BEFREE	15662617, 16760911, 20644116, 21238935, 23420593, 24033710, 24449821, 24967890, 25860876, 28748411, 29337416, 30208220, 31177334		★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	32196607	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	30272326	Associate	★☆☆☆☆ Found in Text Mining only
Tomaculous neuropathy	Hereditary neuropathy with liability to pressure palsies	Pubtator	18055987, 25477497	Associate	★☆☆☆☆ Found in Text Mining only
Tomaculous neuropathy	Hereditary neuropathy with liability to pressure palsies	Pubtator	35246944	Inhibit	★☆☆☆☆ Found in Text Mining only
Transient Ischemic Attack	Transient Ischemic Attack	BEFREE	29385837, 30897531		★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	16760911, 8950770		★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner Syndrome	BEFREE	21848660		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	28765701		★☆☆☆☆ Found in Text Mining only
Ullrich congenital muscular dystrophy 1	Ullrich Congenital Muscular Dystrophy	BEFREE	20729548		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	32234826, 35896848	Associate	★☆☆☆☆ Found in Text Mining only
Urogenital Abnormalities	Urogenital Abnormalities	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	10868972, 22914812, 24182550, 25590623, 25592833, 31782253, 3258899, 32654420, 33107067, 33954832, 34003485, 35634344, 8847680, 9014604	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	28495930, 29571895, 29974375, 30470436, 30692122, 9306351		★☆☆☆☆ Found in Text Mining only
Vascular System Injuries	Vascular system injury	Pubtator	12080112, 12714608, 12791651, 2011604, 20808962, 26368360, 30645640, 9014604	Associate	★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	BEFREE	23812299, 31760507, 6508862		★☆☆☆☆ Found in Text Mining only
Vasculitis, Leukocytoclastic, Cutaneous	Vasculitis	BEFREE	23812299		★☆☆☆☆ Found in Text Mining only
Venous Thromboembolism	Venous thromboembolism	Pubtator	20946148, 24804362, 25779970, 27742707, 37762110, 40374116	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Venous Thromboembolism	Venous thromboembolism	Pubtator	38225166	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Venous Thrombosis	Venous thrombosis	Pubtator	20096009, 20682599, 21163921, 32314961, 34662354	Associate	★☆☆☆☆ Found in Text Mining only
Venous Thrombosis	Venous thrombosis	Pubtator	30471183	Stimulate	★☆☆☆☆ Found in Text Mining only
Ventricular Dysfunction Left	Ventricular dysfunction	Pubtator	24412254	Stimulate	★☆☆☆☆ Found in Text Mining only
Very long chain acyl-CoA dehydrogenase deficiency	Acyl CoA Dehydrogenase Deficiency	BEFREE	31028847		★☆☆☆☆ Found in Text Mining only
von Willebrand Disease	von Willebrand disorder	BEFREE	10102532, 10203106, 10651743, 10688827, 10706867, 1080491, 1081897, 10886198, 10887119, 11019957, 11150026, 11152928, 11154224, 11159522, 11162537, 11212329, 11260057, 11264172, 11325649, 11343385, 11468166, 11487001, 11601142, 11686097, 11686102, 11736956, 11756169, 11776047, 11859851, 11880730, 11958803, 11992241, 12353070, 12393698, 12430915, 12551832, 12791651, 1324533, 1373334, 1400069, 1409710, 1419803, 1419805, 14630825, 14652648, 14717957, 14754609, 15029274, 15039442, 15213842, 15219197, 15226188, 15570243, 15571600, 15662612, 1566742, 1581215, 15849525, 1587530, 15886817, 1609773, 1615500, 16194200, 16252548, 16321553, 16322474, 16359504, 16424652, 16459168, 16507387, 16634745, 16634746, 16643449, 16676067, 16690331, 1673047, 1673793, 16805874, 16862518, 16870550, 16977566, 16977571, 17083505, 17087728, 17090649, 17109387, 17139364, 17155947, 17178659, 1732004, 17393013, 17490730, 1761120, 17681836, 17701477, 18064311, 18315556, 1832934, 18521502, 18556568, 18637125, 18637846, 18680527, 18690339, 18691167, 1873222, 18786008, 18923835, 18929522, 1906179, 1906877, 19083770, 1912563, 1918030, 19309248, 19422453, 19506352, 19506355, 19506357, 19506359, 19506360, 19506361, 19506362, 19506363, 19563498, 19630772, 1967540, 19951969, 19959486, 1996556, 20008188, 20008189, 2009368, 2010538, 2018834, 20200350, 20231421, 2030619, 20335223, 20336352, 20351307, 20586924, 20680229, 20854374, 21148813, 21193108, 2124499, 21264446, 21322782, 21393328, 21596755, 21781257, 22102194, 22102196, 22102198, 22102202, 22102207, 22207689, 22221847, 22315491, 22329792, 22389132, 22422333, 22429825, 22445218, 22473027, 22479377, 22503077, 22871923, 23020315, 2321583, 23216583, 23238591, 23297130, 23335371, 23355534, 23383607, 23398618, 23401896, 23426949, 23520336, 23539537, 2378985, 23852183, 2385594, 24065240, 24319188, 24581275, 24598842, 24675615, 24712919, 24750681, 24762278, 24898873, 24914743, 24928861, 2506947, 25077350, 25103891, 2510503, 2514817, 25185554, 25192242, 25650553, 25662333, 25673639, 25780857, 25810255, 25832887, 25904363, 25953977, 26019279, 26206100, 26207643, 26215113, 26251079, 26375306, 26456374, 26486471, 26714181, 26771163, 26917779, 26986123, 27029718, 27203734, 27212476, 27317792, 27344059, 27427955, 27428891, 27443694, 27468167, 27472426, 27532107, 27611464, 27622750, 27622788, 27778439, 2786201, 27885890, 27913546, 27920237, 27978590, 28026130, 2804373, 28076816, 28111840, 28151804, 28181360, 28362648, 28453889, 28512017, 28523822, 28533135, 28571558, 28577390, 28587726, 28660968, 28691218, 28692107, 28750474, 28791655, 28804847, 28804848, 28874064, 2895123, 28980759, 28987708, 2898953, 29064615, 29098718, 29165738, 29168270, 29187375, 29222282, 29285851, 29288565, 29296713, 29296853, 29304535, 29313798, 29319374, 29369083, 29378356, 29388750, 29427305, 29573506, 29687935, 29727738, 29734512, 29742318, 29767844, 29803281, 29847840, 29913537, 29920949, 29924503, 29924855, 29925524, 29989261, 29992156, 30037523, 30064913, 30273954, 30306084, 3033024, 30358069, 30362288, 30365187, 30488424, 30578256, 30630422, 30645640, 30722078, 30731387, 30770394, 3082350, 3085499, 30866149, 30867356, 30945453, 3100416, 31035301, 31041796, 31055873, 31085919, 31090598, 31107984, 31229334, 31349985, 31350816, 31353031, 31359769, 31364093, 31443861, 31466808, 31496264, 31498884, 31508897, 31557387, 31624107, 31628947, 31714963, 31769905, 31793247, 31808272, 31808831, 31808837, 31808870, 31808884, 3258663, 3258769, 3282380, 3306682, 3484608, 3485111, 3487353, 3492222, 3493688, 3497666, 6416288, 6605165, 6982283, 7492773, 7557958, 7579348, 7948966, 7989040, 8049421, 8052974, 8204881, 8298143, 8324222, 8367445, 8435341, 8518792, 8560432, 8588154, 8652143, 8757968, 8767102, 8839848, 8874865, 9046981, 9064484, 9253800, 9368480, 9371306, 9383803, 9459349, 9473222, 9485000, 9490688, 9495210, 9569179, 9599650, 9690808, 9704661, 9714529, 9759493		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
von Willebrand Disease	von Willebrand disorder	CLINVAR_DG	11325649, 15461624, 1581215, 16221672, 16322474, 1673047, 16953269, 16985174, 17190853, 17681836, 1832934, 18449422, 18485763, 18712522, 18805962, 1906877, 1918030, 19566550, 20305138, 20409624, 21371195, 21393328, 21534937, 22102201, 22197721, 22875612, 23110044, 23335371, 23426949, 23636243, 24675615, 24712919, 26456374, 26986123, 27532107, 31064749, 8486782, 8500791		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
von Willebrand Disease	von Willebrand disorder	LHGDN	11843298, 14755371, 15377475, 15842374, 16870550, 16985174, 17087728, 17190853, 17371490, 17408405, 17681836, 18094571, 18449422		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Von Willebrand disease platelet type	Von willebrand disorder	Pubtator	12637314, 14521605, 15705799, 2052556, 27819553, 33550910, 3487353, 8384898, 9226170	Associate	★☆☆☆☆ Found in Text Mining only
von Willebrand Disease Type 1	Von willebrand disorder	Pubtator	10339461, 12649144, 1415226, 14525793, 15099289, 15226188, 16359504, 16634746, 16634747, 16835381, 16985174, 17090649, 17190853, 17488667, 18230755, 18315556, 18344424, 19286880, 20460340, 20492463, 21393328, 21711445, 22429825, 22792389, 23349392, 23355534, 23426949, 25673639, 26862110, 26986123, 27317792, 27533707, 27543438, 29389944, 31320553, 31834934, 33556167, 33662989, 35064738, 35151252, 35446929, 35505650, 36121439, 37168293, 38013388, 38040335, 3876122, 3877533, 8134377, 8839833, 8839848	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
von Willebrand Disease Type 1	Von willebrand disorder	Pubtator	18187661, 2317558, 27532107	Inhibit	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Von Willebrand disease type 1	Von Willebrand Disorder	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
von Willebrand Disease Type 2	Von willebrand disorder	Pubtator	10203106, 10706763, 12080112, 14630825, 14755371, 15219197, 15226181, 1537829, 1557393, 16247740, 16322474, 16420565, 16420575, 16702040, 16708129, 16720832, 1673047, 17087728, 1729889, 17456630, 17596142, 18725999, 18776767, 18805962, 19060241, 1912563, 19286880, 1967540, 19694940, 19951969, 2009368, 2010538, 2011604, 20118404, 20570857, 20586924, 21244826, 22207689, 22329792, 22479377, 22875612, 23216583, 23322777, 23496210, 23539537, 23621778, 2385594, 25477497, 26917779, 2786201, 28436749, 28544236, 2895123, 29186156, 29734512, 3028536, 313821, 31628947, 32573891, 32722784, 32803740, 3306682, 33550910, 33662989, 34758185, 3485111, 3490883, 34942660, 35452508, 35776905, 36580664, 39343102, 40298995, 7620154, 8123843, 8123844, 8338947, 8376405, 8639896, 9423819, 9490688, 9692396, 9723578, 9845532	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
von Willebrand Disease Type 2	Von willebrand disorder	Pubtator	1672694, 17155947, 20335223, 20351307, 40434960, 8338947	Inhibit	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Von Willebrand disease type 2A	Von Willebrand Disorder	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Von Willebrand disease type 2B	Von Willebrand Disorder	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
von Willebrand disease type 2M	Von Willebrand Disorder	BEFREE	10669167, 12008946, 12588351, 16420565, 16420575, 17596142, 18312368, 19506361, 19694940, 21244826, 23496210, 26345337, 28544236, 31605304, 9253800, 9473222		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Von Willebrand disease type 2M	Von Willebrand Disorder	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
von Willebrand disease type 2M	Von Willebrand Disorder	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
von Willebrand disease type 2M	Von Willebrand Disorder	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Von Willebrand disease type 2N	Von Willebrand Disorder	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
von Willebrand Disease Type 3	Von willebrand disorder	Pubtator	12637314, 14995987, 16720832, 1673793, 17371490, 18055987, 18665926, 19372260, 21362127, 22197721, 22431572, 2378985, 24675615, 25635880, 25780857, 25953977, 26986123, 27236750, 27414491, 28453889, 30936056, 31793247, 3258663, 34351388, 35092343, 35466528, 35491445, 36792472, 39756657, 40279514	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Von Willebrand disease type 3	Von Willebrand Disorder	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
von Willebrand Disease Type 3	Von willebrand disorder	Pubtator	25673639, 35343054	Inhibit	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Von Willebrand disease, platelet type	von Willebrand disorder	BEFREE	12637314, 14521605, 16704444, 18175283, 18187573, 18333841, 18393148, 1911886, 19808696, 19951970, 2052556, 21301777, 22102188, 23014764, 23934752, 24474090, 27819553, 3487353, 9226170, 9282797		★☆☆☆☆ Found in Text Mining only
von Willebrand Disease, Recessive Form	Von Willebrand Disorder	CLINVAR_DG	31064749		★☆☆☆☆ Found in Text Mining only
von Willebrand Disease, Type 1	von Willebrand disorder	BEFREE	10339461, 10494765, 10595636, 10691852, 10792299, 10959688, 11154147, 11529461, 11686102, 11698279, 11736956, 11992235, 12393513, 12551832, 12649144, 14525793, 14630825, 14652648, 15099289, 15166929, 15226188, 15660508, 15755288, 16247740, 16276467, 16359504, 16634746, 16634747, 16835381, 16959681, 16977571, 16985174, 17080221, 17083505, 17090649, 17139363, 17190853, 17488667, 17490730, 17596142, 17635702, 17701477, 17934350, 18187661, 18315556, 18449422, 18510569, 18691167, 19237732, 19286880, 19506352, 19506353, 19506354, 19506357, 19506358, 19506359, 19506363, 19566550, 19624459, 20008188, 20303469, 20492463, 20696945, 20738304, 21264446, 21322782, 21346256, 21393328, 21534937, 21711445, 22429825, 22792389, 2317558, 23349392, 23355534, 23383607, 23406206, 23529928, 24581275, 25673639, 25696906, 25832887, 26251079, 26375306, 26862110, 27428891, 27443694, 27483487, 27532107, 27533707, 27543438, 27622788, 28151804, 28692107, 28855217, 28874064, 28980759, 29388750, 29389944, 29453814, 29754468, 29767844, 29913537, 29972863, 30124466, 30246494, 30378120, 30578256, 30735311, 30866149, 31085919, 31261173, 31359769, 31583797, 31808831, 31834934, 3487361, 3876122, 3877533, 7557958, 7906671, 8096943, 8134377, 8456430, 8562925, 8839833, 8839848, 8865521, 8903002, 9495210, 9792286, 9806826		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
von Willebrand Disease, Type 1	von Willebrand disorder	UNIPROT_DG	10887119, 11698279		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
von Willebrand Disease, Type 1	von Willebrand disorder	GENOMICS_ENGLAND_DG	28971901		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
von Willebrand Disease, Type 1	von Willebrand disorder	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
von Willebrand Disease, Type 1	von Willebrand disorder	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
von Willebrand Disease, Type 2	von Willebrand disorder	BEFREE	11154147, 11686104, 11776314, 11843298, 11880730, 12551832, 15113383, 15571600, 15662612, 16321553, 16959681, 17000885, 17087728, 19404524, 19506360, 19506363, 21094983, 22102189, 23179108, 23355534, 23852183, 24762278, 24914743, 25477497, 25696906, 26019279, 26206100, 26917779, 27029718, 27889474, 28696025, 29453814, 29742318, 29767844, 30306084, 30817071, 31085919, 31107984, 31359769, 31628947, 3493688, 7620154, 7741134, 8011991, 8204881, 8324222, 8560432		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
von Willebrand Disease, Type 2	von Willebrand disorder	UNIPROT_DG	12406074, 1409710, 1419803, 1419804, 1420817, 1429668, 1672694, 1673047, 1729889, 1761120, 1832934, 1906179, 2010538, 2011604, 21592258, 2786201, 7620154, 7734373, 7789955, 8011991, 8123843, 8123844, 8338947, 8348943, 8376405, 8435341, 8486782, 8547152, 8622978		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
von Willebrand Disease, Type 2	von Willebrand disorder	GENOMICS_ENGLAND_DG	28971901		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
von Willebrand Disease, Type 2	von Willebrand disorder	CLINVAR_DG	31064749		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
von Willebrand Disease, Type 2	von Willebrand disorder	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
von Willebrand Disease, Type 2A	Von Willebrand Disorder	BEFREE	11019957, 1380739, 1390214, 1419804, 1420817, 14755371, 15219197, 15377475, 1537829, 16409464, 16708129, 17155947, 18397285, 19506362, 19951969, 21937160, 22329792, 22479377, 23322777, 23539537, 2385594, 26791163, 28379876, 2895123, 29186156, 30762591, 3306682, 8123844, 8338947, 8348943, 8435341, 8639896, 9054649		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
von Willebrand Disease, Type 2A	Von Willebrand Disorder	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
von Willebrand Disease, Type 2A	Von Willebrand Disorder	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
von Willebrand Disease, Type 2B	Von Willebrand Disorder	BEFREE	10233434, 10497852, 10706763, 10845912, 10997984, 12558793, 1373334, 15041272, 1557393, 16702040, 16704444, 1672694, 17087728, 1729889, 1761120, 1772783, 18064311, 18805962, 19060241, 19085651, 1912563, 19630816, 2009368, 2011604, 20118404, 20305138, 20838735, 22740102, 24270421, 24521271, 26278967, 26645283, 27148840, 27683759, 27734030, 27978591, 28060120, 28118618, 28436749, 28640903, 28692141, 28804849, 29378695, 3258474, 3491540, 3926021, 7833255, 8123843, 8165601, 8292729, 8376405, 8547152, 8630394, 8701941, 9108394, 9308766, 9858249		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
von Willebrand Disease, Type 2B	Von Willebrand Disorder	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
von Willebrand Disease, Type 2B	Von Willebrand Disorder	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
von Willebrand Disease, Type 2N	Von Willebrand Disorder	BEFREE	11686103, 12588349, 15461624, 16953269, 17456630, 19298374, 21371195, 22875612, 29115006, 31028847, 31741138, 8822593, 8854570, 8903002, 9684781, 9792286, 9845532		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
von Willebrand Disease, Type 2N	Von Willebrand Disorder	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
von Willebrand Disease, Type 2N	Von Willebrand Disorder	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
von Willebrand Disease, Type 3	von Willebrand disorder	UNIPROT_DG	10887119, 7989040, 8088787		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
von Willebrand Disease, Type 3	von Willebrand disorder	BEFREE	11057846, 12430915, 12551832, 12737944, 1415226, 1448779, 14995987, 15331450, 16276467, 16690331, 16706266, 16894459, 16959681, 16977566, 17139364, 17371490, 17880457, 18328061, 18923835, 19372260, 19473418, 19506352, 19506356, 19506357, 19630771, 20147343, 20409624, 21148813, 21362127, 22102189, 22431567, 22674667, 22722677, 2297569, 23297130, 23311757, 23407766, 23852183, 24065240, 24319188, 25673639, 25696906, 25780857, 2804373, 28512017, 29165738, 29288565, 29304535, 29866817, 29931985, 29984440, 30378120, 30630422, 30836803, 31532876, 31714257, 7557958, 8088787, 8148477, 8622978, 8857958, 9064484, 9569178		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
von Willebrand Disease, Type 3	von Willebrand disorder	GENOMICS_ENGLAND_DG	28971901		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
von Willebrand Disease, Type 3	von Willebrand disorder	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
von Willebrand Disease, Type 3	von Willebrand disorder	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Waldenstrom Macroglobulinemia	Waldenstrom macroglobulinemia	Pubtator	22896002	Associate	★☆☆☆☆ Found in Text Mining only
Waldenstrom Macroglobulinemia	Waldenstrom`s Macroglobulinemia	BEFREE	30224328		★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	11292185	Associate	★☆☆☆☆ Found in Text Mining only