Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	7450
Gene name Gene Name - the full gene name approved by the HGNC.	Von Willebrand factor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	VWF
Synonyms (NCBI Gene) Gene synonyms aliases	F8VWF, VWD
Chromosome Chromosome number	12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	12p13.31
Summary Summary of gene provided in NCBI Entrez Gene.	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

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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

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miRTarBase ID	miRNA	Experiments
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

Show/Hide all(12)

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

Show/Hide all(41)

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

MIM	HGNC	e!Ensembl
613160	12726	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

Interactions

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	KEGG		Reactome
	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		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

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
thrombocytopenia	Thrombocytopenia	rs267607337	N/A
Von Willebrand Disorder	Hereditary von Willebrand disease, von Willebrand disease type 2, von willebrand disease type 1, von willebrand disease type 3, von willebrand disease type 2b, von Willebrand factor Vicenza	rs267607305, rs61750110, rs61750595, rs61750071, rs267607366, rs61749364, rs61751303, rs267607334, rs61754000, rs267607337, rs1591838833, rs61748480, rs61750614, rs61749372, rs61750077 View all (143 more)	N/A

Show/Hide Text Mining Associations (275)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Acquired Immunodeficiency Syndrome	Stimulate	3258899
Acute Coronary Syndrome	Associate	26600159, 36474435
Adenocarcinoma	Associate	17965528, 26683690
Adenocarcinoma of Lung	Associate	31698633, 33062704, 33511215, 33661044, 35635202
AIDS Related Complex	Stimulate	3258899
Alternating hemiplegia of childhood	Associate	28652401
Alzheimer Disease	Stimulate	31315437
Alzheimer Disease	Associate	32812532
Amyotrophic Lateral Sclerosis	Associate	32586411
Anaphylaxis	Associate	27819553
Anemia	Associate	19786614, 34807970
Anemia Sickle Cell	Stimulate	24182550
Anemia Sickle Cell	Associate	31648337
Angina Unstable	Associate	12025897
Angiodysplasia	Associate	29734512
Angiokeratoma	Associate	31169171
Anterior Cruciate Ligament Injuries	Associate	38160725
Aortic Valve Stenosis	Stimulate	36362368
Arthritis Rheumatoid	Associate	15593185, 33977746
Asthma	Associate	34456632
Atherosclerosis	Associate	16455954, 25592833, 31450612, 31824501
Atherosclerosis	Stimulate	27941341
Atrial Fibrillation	Associate	15056828, 17322628, 24412254, 28306170
Atrial Fibrillation	Stimulate	21972893
Atrial Remodeling	Associate	15056828
Atypical Hemolytic Uremic Syndrome	Stimulate	31484852
Autoimmune Diseases	Associate	37492575
Bernard Soulier Syndrome	Associate	15609295, 1694864, 21173099, 28395735, 35055070, 7690774, 9423819
Bernard Soulier Syndrome	Stimulate	25370924
Bile Duct Diseases	Associate	40596471
Bird headed dwarfism Montreal type	Associate	19060241
Blood Coagulation Disorders	Associate	1906877, 32106291, 32758992, 33991637, 36507906, 36611985, 36944974, 36980889, 38320121
Blood Coagulation Disorders	Stimulate	36991043
Blood Coagulation Disorders Inherited	Associate	2584182
Blood Platelet Disorders	Associate	10814631, 11674857, 11682459, 12637314, 15681423, 17155947, 18369690, 18443791, 18776767, 19286880, 19786614, 2394830, 28934202, 29242293, 30366922 View all (7 more)
Body Weight	Associate	22207689, 32609846
Brain Death	Stimulate	18318776
Brain Infarction	Associate	17322628
Breast Neoplasms	Associate	31018945, 37268731, 39379897, 39529627
Carcinogenesis	Associate	36359790
Carcinoma Hepatocellular	Stimulate	18300343
Carcinoma Hepatocellular	Associate	37958632
Carcinoma Intraductal Noninfiltrating	Associate	11953822
Carcinoma Lobular	Stimulate	31018945
Carcinoma Non Small Cell Lung	Associate	28148898, 30259978
Carcinoma Squamous Cell	Associate	17965528
Cardiovascular Diseases	Associate	12792699, 20940418, 21156930, 23733198, 25779970, 29685722, 31557676, 35242298, 36474435, 38203423
Cardiovascular Diseases	Stimulate	26368360
Carotid Artery Diseases	Associate	35242298
Carotid Artery Thrombosis	Associate	31450612
Carotid Stenosis	Associate	31557676, 32932544
Cerebral Arterial Diseases	Associate	22235876
Cerebral Infarction	Associate	28495826
Cerebral Small Vessel Diseases	Associate	27576214
Cerebrovascular Disorders	Associate	28476896, 28495826, 35242298
Cholangiocarcinoma	Associate	35758372
Cholangitis Sclerosing	Inhibit	39969330
Choroidal Effusions	Associate	33977746
Coagulation Protein Disorders	Associate	11380453
Cognition Disorders	Associate	32812532
Colitis Ulcerative	Stimulate	31038478
Colonic Diseases	Associate	24236063
Colorectal Neoplasms	Associate	36510452
Congenital Abnormalities	Associate	9074430
Congenital disorder of glycosylation type 2E	Associate	19286880, 23621778
Constriction Pathologic	Associate	35242298
Corneal Endothelial Cell Loss	Associate	3306682
Coronary Artery Disease	Associate	11736957, 22780915
Coronary Artery Disease	Stimulate	36362368
Coronary Disease	Associate	10760079, 14717782, 20940418, 22568520, 32007502
COVID 19	Associate	33578631, 33991637, 34710269, 35379747, 35521725, 35875995, 36611985, 36685671, 36980889, 37098810, 39333538
COVID 19	Stimulate	35033854
Craniocerebral Trauma	Associate	36813871
Critical Illness	Associate	33141764
Cushing Syndrome	Associate	18173757
Deafness X Linked 1	Associate	18041654
Death	Stimulate	27236861
Death	Associate	29685722
Depressive Disorder Major	Associate	26171980
Developmental Disabilities	Associate	30701557
Diabetes Mellitus	Associate	10760079, 23383177, 23733198, 35592524
Diabetes Mellitus	Stimulate	22972845
Diabetes Mellitus Type 1	Associate	10760079, 36754679
Diabetes Mellitus Type 2	Associate	23249721
Diabetes Mellitus Type 2	Stimulate	23383177
Diabetic Nephropathies	Associate	10760079, 32778679
Disease	Associate	20492466
Disseminated Intravascular Coagulation	Associate	36813871
Drug Related Side Effects and Adverse Reactions	Associate	23143626
Emphysema	Associate	32210548
Encephalomyelitis Acute Disseminated	Associate	34685765
Enhanced S Cone Syndrome	Associate	36754679
Eosinophilic Esophagitis	Associate	35839075
Epileptic Encephalopathy Early Infantile 4	Inhibit	24700782
Factor XIII Deficiency	Associate	26342041
Femur Head Necrosis	Associate	36813871
Fetal Death	Associate	20664396
Fibrosis	Stimulate	18300343
Fibrosis	Associate	29999587
Fuchs' Endothelial Dystrophy	Associate	31847785
Gaucher like disease	Associate	32609846
Genetic Diseases Inborn	Associate	18665926, 3133808, 3258663
Glaucoma	Associate	24954072
Glaucoma Open Angle	Associate	24954072
Glioblastoma	Associate	24868550, 27236861, 31991805
Glioma	Associate	29584591, 33545987
Glucosephosphate Dehydrogenase Deficiency	Associate	19008126
Glycogen Storage Disease XIV	Associate	30701557
Gray Platelet Syndrome	Associate	19410025
Hand Arm Vibration Syndrome	Stimulate	38302542
Heart Defects Congenital	Associate	22914812
Heart Diseases	Stimulate	15056828
Heart Failure	Associate	16185922, 34003485
Heart Valve Diseases	Stimulate	15056828
HELLP Syndrome	Associate	19190814
Hemolytic Uremic Syndrome	Associate	10397728, 15327386
Hemolytic Uremic Syndrome	Stimulate	33641611
Hemophilia A	Associate	10910913, 11918545, 15471879, 18691168, 19221656, 20374449, 25780857, 26244499, 2971673, 31026269, 3133808, 31350267, 33190257, 36775768, 37017006
Hemorrhage	Associate	11159522, 12080112, 15099289, 15226188, 16985174, 17109387, 17596142, 18041654, 18805962, 19172521, 19687512, 19959486, 20492463, 2104761, 22479377 View all (36 more)
Hemorrhage	Inhibit	33662989, 40434960
Hemorrhagic Disorders	Associate	2104761
Hemorrhoids	Associate	40114371
Hepatic Veno Occlusive Disease	Associate	21330458
Hepatitis Alcoholic	Associate	33954832
Hepatitis B Chronic	Inhibit	36002595
Hyaline Fibromatosis Syndrome	Associate	12973667
Hypersensitivity Immediate	Inhibit	11756169
Hypertension	Associate	35242298, 38103737, 9708474
Hyperthyroidism	Stimulate	34210154
Hypophosphatemic Rickets Autosomal Dominant	Associate	9389727
Hypoxia	Stimulate	33351148
Idiopathic Noncirrhotic Portal Hypertension	Stimulate	31851564
Idiopathic Pulmonary Fibrosis	Associate	16936446, 31640794
IgA Vasculitis	Associate	9014604
Immune System Diseases	Associate	35875995
Immunologic Deficiency Syndromes	Associate	12406074, 35839075
Immunologic Deficiency Syndromes	Stimulate	20553378, 36991043
Immunologic Deficiency Syndromes	Inhibit	23058857, 28652401, 29357939
Inflammation	Associate	16458279, 18382655, 23440109, 26617700, 31210414, 32758992, 35521725, 40596471, 9014604
Inflammation	Stimulate	19812385
Inflammation	Inhibit	31824501
Inflammatory Bowel Diseases	Associate	25878173, 39969330
Intracranial Aneurysm	Stimulate	39215680
Invasive Pulmonary Aspergillosis	Associate	22731696
Ischemic Attack Transient	Associate	29385837
Ischemic Stroke	Associate	38296159
Jaundice	Associate	23058857
Kidney Diseases	Associate	10760079, 16771247
Kininogen Deficiency High Molecular Weight and Low Molecular Weight	Associate	2385594
Kleine Levin Syndrome	Inhibit	35859339
Leiomyoma	Associate	36066972
Leishmaniasis	Associate	23440109
Leprosy	Associate	29565968
Leukemia Acute X Linked	Associate	16771247
Leukemia Myeloid Acute	Associate	33299888, 35935313
Livedoid Vasculopathy	Associate	35521725
Liver Cirrhosis	Inhibit	36002595
Liver Cirrhosis Biliary	Associate	40596471
Liver Diseases Alcoholic	Stimulate	33954832
Liver Failure	Stimulate	33991637
Long QT Syndrome	Associate	35001370
Lung Diseases	Associate	15467717, 32210548
Lung Diseases Interstitial	Associate	16936446
Lupus Erythematosus Systemic	Stimulate	25401491, 8572736
Lupus Erythematosus Systemic	Associate	34646335
Lupus Nephritis	Associate	27716443
Lymphangioleiomyomatosis	Associate	25133674
Lymphatic Metastasis	Associate	32196607
Lymphoma Mantle Cell	Associate	36359790
Macular Degeneration	Associate	29367644, 34620972
Malaria Cerebral	Associate	22168261
Melanoma	Associate	1707057, 20505748, 22032772, 2447074, 37258039
Menorrhagia	Associate	20381040, 34807970, 37017006
Mesothelioma Malignant	Associate	37832118
Metabolic Syndrome	Associate	25646961
Microvascular Angina	Associate	28652401, 35521725
Microvascular Angina	Stimulate	34966385
Mitral Valve Stenosis	Associate	24412254
Myasthenic Syndromes Congenital	Inhibit	16796708
Myocardial Infarction	Associate	11736957, 15670033, 16697311, 30366922
Myotonic Dystrophy	Associate	36507906
Neoplasm Invasiveness	Associate	11953822
Neoplasm Metastasis	Associate	15467717, 30279208, 39379897
Neoplasms	Associate	11676859, 11682459, 15467717, 18230189, 18369690, 23206928, 24222652, 24236063, 24868550, 27236861, 36641653, 38160725
Neoplasms	Inhibit	26056802
Neoplasms Basal Cell	Associate	11682459
Neoplasms Vascular Tissue	Associate	32234826
Neoplasms Vascular Tissue	Stimulate	36281781
Neoplastic Syndromes Hereditary	Associate	34237177
Neurofibromatoses	Associate	28453889
No Reflow Phenomenon	Associate	22163125
Obesity	Stimulate	14629465, 21481180
Obesity	Associate	38203423
Osteogenesis imperfecta type 2A	Associate	11159522, 17155947, 20351307, 23539537, 27532107
Osteogenesis imperfecta type 2B	Associate	17087728, 17155947, 21244826, 26206100, 27532107, 39343102, 8134377, 9723578
Osteogenesis imperfecta type 3	Associate	23539537
Osteoporosis	Stimulate	37203779
Osteosarcoma	Associate	15467717, 30279208
Ovarian Neoplasms	Associate	35735060
Pain	Associate	35033099
Pancreatitis	Associate	35745003
Pemphigus	Associate	39593117
Periodic fever familial autosomal dominant	Associate	37857225
Periodontitis	Associate	36072904
Peripheral Arterial Disease	Associate	24913105, 32847391
Peripheral Arterial Disease	Stimulate	29587258
Pituitary Neoplasms	Associate	24222652
Plaque Atherosclerotic	Associate	22982001
Platelet Aggregation Spontaneous	Associate	2932469
Platelet Storage Pool Deficiency	Associate	19172521
Polycystic Ovary Syndrome	Associate	19261277
Post Acute COVID 19 Syndrome	Associate	35875995, 36131342
Postpartum Thyroiditis	Associate	39343102
Pre Eclampsia	Associate	18598365
Pre Eclampsia	Stimulate	39735539
Preeclamptic toxemia	Stimulate	19190814
Pulmonary Arterial Hypertension	Associate	20808962
Pulmonary Disease Chronic Obstructive	Associate	32210548, 32731895, 32758992
Pulmonary Disease Chronic Obstructive	Stimulate	34479474
Pulmonary Embolism	Associate	30655285, 36064077
Pulmonary Fibrosis	Associate	34479474
Purpura Thrombocytopenic Idiopathic	Associate	36696209
Purpura Thrombotic Thrombocytopenic	Associate	10339486, 10397728, 11586351, 12393399, 12393505, 15327386, 15551280, 19786614, 20032502, 23058857, 23555663, 27236750, 32073234, 32365113, 35746657, 37689812 View all (1 more)
Raynaud Disease	Associate	38302542
Renal Insufficiency Chronic	Associate	16771247
Respiratory Distress Syndrome	Stimulate	31796023
Respiratory Distress Syndrome	Associate	32931480
Retinal Vein Occlusion	Inhibit	33356499
Sarcoma Kaposi	Stimulate	3258899
Schizophrenia	Associate	28974776
Scleral Diseases	Associate	33746571
Scleroatonic muscular dystrophy	Associate	20729548
Scleroderma Systemic	Associate	26360820
Sepsis	Stimulate	19812385
Severe Acute Respiratory Syndrome	Associate	36889591
Sleep Apnea Obstructive	Associate	31210414, 33351148
Spondylitis Ankylosing	Stimulate	40591022
Stomach Neoplasms	Associate	33178362, 39456895
Stroke	Associate	22257027, 28495826, 29685722, 31557676
Subarachnoid Hemorrhage	Associate	29077161
Thrombocythemia Essential	Associate	19508974
Thrombocytopenia	Associate	12637314, 16720832, 18805962, 25185554, 29734512, 3028536, 34942660, 35521725, 39343102, 40434960
Thrombocytopenia Neonatal Alloimmune	Associate	28436749
Thromboembolism	Stimulate	29685722
Thromboembolism	Associate	30366922, 33385180
Thrombophilia	Associate	32234826, 36696209, 38225453
Thrombosis	Associate	11418460, 14521605, 15056828, 15606555, 18826391, 23216583, 23383177, 23555663, 23648131, 28495826, 28652401, 31450612, 33107067, 33351148, 34685765 View all (11 more)
Thrombosis	Stimulate	24412254
Thymoma	Associate	36991043
Thyroid Cancer Papillary	Associate	32196607
Thyroid Neoplasms	Associate	30272326
Tomaculous neuropathy	Associate	18055987, 25477497
Tomaculous neuropathy	Inhibit	35246944
Urinary Bladder Neoplasms	Associate	32234826, 35896848
Vascular Diseases	Associate	10868972, 22914812, 24182550, 25590623, 25592833, 31782253, 3258899, 32654420, 33107067, 33954832, 34003485, 35634344, 8847680, 9014604
Vascular System Injuries	Associate	12080112, 12714608, 12791651, 2011604, 20808962, 26368360, 30645640, 9014604
Venous Thromboembolism	Associate	20946148, 24804362, 25779970, 27742707, 37762110, 40374116
Venous Thromboembolism	Stimulate	38225166
Venous Thrombosis	Associate	20096009, 20682599, 21163921, 32314961, 34662354
Venous Thrombosis	Stimulate	30471183
Ventricular Dysfunction Left	Stimulate	24412254
Von Willebrand disease platelet type	Associate	12637314, 14521605, 15705799, 2052556, 27819553, 33550910, 3487353, 8384898, 9226170
von Willebrand Disease Type 1	Associate	10339461, 12649144, 1415226, 14525793, 15099289, 15226188, 16359504, 16634746, 16634747, 16835381, 16985174, 17090649, 17190853, 17488667, 18230755 View all (36 more)
von Willebrand Disease Type 1	Inhibit	18187661, 2317558, 27532107
von Willebrand Disease Type 2	Associate	10203106, 10706763, 12080112, 14630825, 14755371, 15219197, 15226181, 1537829, 1557393, 16247740, 16322474, 16420565, 16420575, 16702040, 16708129 View all (69 more)
von Willebrand Disease Type 2	Inhibit	1672694, 17155947, 20335223, 20351307, 40434960, 8338947
von Willebrand Disease Type 3	Associate	12637314, 14995987, 16720832, 1673793, 17371490, 18055987, 18665926, 19372260, 21362127, 22197721, 22431572, 2378985, 24675615, 25635880, 25780857 View all (15 more)
von Willebrand Disease Type 3	Inhibit	25673639, 35343054
von Willebrand Diseases	Associate	10102532, 11159522, 11292185, 11756169, 12080112, 12393698, 12791651, 1409710, 1415226, 15226181, 16359504, 16420565, 1673047, 1673793, 17109387 View all (135 more)
von Willebrand Diseases	Inhibit	10339461, 20088930, 20381040, 2317558, 27533707, 35343054, 8839848, 9074430
von Willebrand Diseases	Stimulate	33663351
Von willebrand factor deficiency	Inhibit	14995987, 22429825
Von willebrand factor deficiency	Associate	14995987, 16835381, 19286880, 21596755, 22429825, 24646657, 39510415, 8839833
Waldenstrom Macroglobulinemia	Associate	22896002
Wilms Tumor	Associate	11292185

VWF (von Willebrand factor)