Property Summary

NCBI Gene PubMed Count 747
Grant Count 1,045
R01 Count 485
Funding $206,879,454.71
PubMed Score 8726.33
PubTator Score 5448.68

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Relevance (67)

Disease Z-score Confidence
Von Willebrand's disease 19 8.843 4.0
Thrombotic thrombocytopenic purpura 14 7.311 3.7
Bernard-Soulier syndrome 14 5.989 3.0
Thrombocytopenia 105 5.89 2.9
Coronary artery disease 240 5.59 2.8
Atherosclerosis 275 5.319 2.7
Angiodysplasia 5 5.31 2.7
Cerebrovascular disease 231 5.236 2.6
Glanzmann's thrombasthenia 21 4.916 2.5
Heart disease 279 4.907 2.5
Hypertension 287 4.833 2.4
Anemia 252 4.81 2.4
diabetes mellitus 1,663 4.718 2.4
Kidney disease 396 4.569 2.3
Peripheral vascular disease 90 4.424 2.2
Cancer 2,346 4.357 2.2
Hypersensitivity reaction type II diseas... 235  4.292 2.1
Factor VIII deficiency 10 4.227 2.1
Connective tissue disease 59 4.191 2.1
Disseminated intravascular coagulation 32 4.041 2.0
Vasculitis 64 3.858 1.9
Liver disease 219 3.606 1.8
Purpura 17 3.474 1.7
Intermittent claudication 16 3.453 1.7
Factor XI deficiency 9 3.355 1.7
Hemophilia B 11 3.329 1.7
Factor XIII deficiency 7 3.295 1.6
Congenital afibrinogenemia 9 3.291 1.6
Diabetic Retinopathy 53 3.25 1.6
Hypothyroidism 89 3.14 1.6
Lipid metabolism disorder 102 3.027 1.5
Active peptic ulcer disease 2 3.018 1.5
Atrial Fibrillation 110
Carcinoma 2,147 1.0
Cardiovascular Diseases 50
Down syndrome 548
Heart failure 80
Hypertensive disease 193
Intracranial Thrombosis 3
Peripheral Neuropathy 303
Thrombosis 42
adrenocortical carcinoma 1,427
breast carcinoma 1,614
ductal carcinoma in situ 1,745
gastric carcinoma 832
group 3 medulloblastoma 2,254
interstitial cystitis 2,299
intraductal papillary-mucinous adenoma (... 2,956 
intraductal papillary-mucinous carcinoma... 2,988 
intraductal papillary-mucinous neoplasm ... 3,289 
invasive ductal carcinoma 2,950
lung adenocarcinoma 2,713
lung cancer 4,466
lung carcinoma 2,844
non-small cell lung carcinoma 413
osteosarcoma 7,933
ovarian cancer 8,484
ulcerative colitis 2,087
urothelial carcinoma 318
von Willebrand Disease 1
von Willebrand Disease, Type 1 1
von Willebrand Disease, Type 2 1
von Willebrand Disease, Type 2A 1
von Willebrand Disease, Type 2B 1
von Willebrand Disease, Type 2N 1
von Willebrand Disease, Type 3 1
von Willebrand disease type 2M 1

Expression

Synonym

Accession P04275 Q8TCE8 Q99806 vWF
Symbols VWD
F8VWF

Gene

VWF

PDB

1M10   1SQ0   1U0N   4C2A   4C2B   1AO3   1ATZ   1AUQ   1FE8   1FNS   1IJB   1IJK   1OAK   1UEX   2ADF   2MHP   2MHQ   3GXB   3HXO   3HXQ   3PPV   3PPW   3PPX   3PPY   3ZQK   4C29   4DMU   4NT5   5BV8  

Gene RIF (663)

PMID Text
27060324 rs216293T/G and rs1063857T/C polymorphisms of the vWF gene are associated with the risk for coronary artery disease.
26871104 Study compared the force-induced domain unfolding of recombinant dimeric VWF with recombinant VWF multimers
26827609 Based on prediction scores, four variants, namely, P1266L, H1268D, C1272R, and C1272F, were predicted as highly deleterious from a pool of 72 nsSNPs/variants in A1 domain of VWD belonging to type 2A and 2B
26773038 Glycan stabilization of the VWF A2 domain acts together with the Ca(2+)binding site and vicinal cysteine disulfide bond to control unfolding and ADAMTS13 proteolysis.
26744078 Clonal analysis of cultured endothelial cells reveals that dynamic mosaic heterogeneity in vWF expression is controlled by a low-barrier, noise-sensitive bistable switch that involves random transitions in the DNA methylation status of the VWF promoter.
26677223 These studies reveal a novel rheological strategy in which the incorporation of a single glycine within the GPIbalpha binding interface of normal VWF enhances the probability of local unfolding
26670633 direct binding of PDIA1 to VWF, is reported.
26645283 results strongly argue against apoptosis as a mechanism for the thrombocytopenia of severe VWD-2B exhibiting the VWF/p.V1316M mutation
26616301 An in vitro model for LVAD associated aVWD demonstrated that ADAMTS-13 and platelets contribute to the depletion of HMWM of VWF.
26600159 In the ACS patients, associations between ABO antigens and von Willebrand factor (VWF, P = 9.2 x 10-13), and soluble tissue factor (sTF, P = 8.6 x 10-4) were also found.
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AA Sequence

MIPARFAGVLLALALILPGTLCAEGTRGRSSTARCSLFGSDFVNTFDGSMYSFAGYCSYLLAGGCQKRSF      1 - 70
SIIGDFQNGKRVSLSVYLGEFFDIHLFVNGTVTQGDQRVSMPYASKGLYLETEAGYYKLSGEAYGFVARI     71 - 140
DGSGNFQVLLSDRYFNKTCGLCGNFNIFAEDDFMTQEGTLTSDPYDFANSWALSSGEQWCERASPPSSSC    141 - 210
NISSGEMQKGLWEQCQLLKSTSVFARCHPLVDPEPFVALCEKTLCECAGGLECACPALLEYARTCAQEGM    211 - 280
VLYGWTDHSACSPVCPAGMEYRQCVSPCARTCQSLHINEMCQERCVDGCSCPEGQLLDEGLCVESTECPC    281 - 350
VHSGKRYPPGTSLSRDCNTCICRNSQWICSNEECPGECLVTGQSHFKSFDNRYFTFSGICQYLLARDCQD    351 - 420
HSFSIVIETVQCADDRDAVCTRSVTVRLPGLHNSLVKLKHGAGVAMDGQDVQLPLLKGDLRIQHTVTASV    421 - 490
RLSYGEDLQMDWDGRGRLLVKLSPVYAGKTCGLCGNYNGNQGDDFLTPSGLAEPRVEDFGNAWKLHGDCQ    491 - 560
DLQKQHSDPCALNPRMTRFSEEACAVLTSPTFEACHRAVSPLPYLRNCRYDVCSCSDGRECLCGALASYA    561 - 630
AACAGRGVRVAWREPGRCELNCPKGQVYLQCGTPCNLTCRSLSYPDEECNEACLEGCFCPPGLYMDERGD    631 - 700
CVPKAQCPCYYDGEIFQPEDIFSDHHTMCYCEDGFMHCTMSGVPGSLLPDAVLSSPLSHRSKRSLSCRPP    701 - 770
MVKLVCPADNLRAEGLECTKTCQNYDLECMSMGCVSGCLCPPGMVRHENRCVALERCPCFHQGKEYAPGE    771 - 840
TVKIGCNTCVCQDRKWNCTDHVCDATCSTIGMAHYLTFDGLKYLFPGECQYVLVQDYCGSNPGTFRILVG    841 - 910
NKGCSHPSVKCKKRVTILVEGGEIELFDGEVNVKRPMKDETHFEVVESGRYIILLLGKALSVVWDRHLSI    911 - 980
SVVLKQTYQEKVCGLCGNFDGIQNNDLTSSNLQVEEDPVDFGNSWKVSSQCADTRKVPLDSSPATCHNNI    981 - 1050
MKQTMVDSSCRILTSDVFQDCNKLVDPEPYLDVCIYDTCSCESIGDCACFCDTIAAYAHVCAQHGKVVTW   1051 - 1120
RTATLCPQSCEERNLRENGYECEWRYNSCAPACQVTCQHPEPLACPVQCVEGCHAHCPPGKILDELLQTC   1121 - 1190
VDPEDCPVCEVAGRRFASGKKVTLNPSDPEHCQICHCDVVNLTCEACQEPGGLVVPPTDAPVSPTTLYVE   1191 - 1260
DISEPPLHDFYCSRLLDLVFLLDGSSRLSEAEFEVLKAFVVDMMERLRISQKWVRVAVVEYHDGSHAYIG   1261 - 1330
LKDRKRPSELRRIASQVKYAGSQVASTSEVLKYTLFQIFSKIDRPEASRITLLLMASQEPQRMSRNFVRY   1331 - 1400
VQGLKKKKVIVIPVGIGPHANLKQIRLIEKQAPENKAFVLSSVDELEQQRDEIVSYLCDLAPEAPPPTLP   1401 - 1470
PDMAQVTVGPGLLGVSTLGPKRNSMVLDVAFVLEGSDKIGEADFNRSKEFMEEVIQRMDVGQDSIHVTVL   1471 - 1540
QYSYMVTVEYPFSEAQSKGDILQRVREIRYQGGNRTNTGLALRYLSDHSFLVSQGDREQAPNLVYMVTGN   1541 - 1610
PASDEIKRLPGDIQVVPIGVGPNANVQELERIGWPNAPILIQDFETLPREAPDLVLQRCCSGEGLQIPTL   1611 - 1680
SPAPDCSQPLDVILLLDGSSSFPASYFDEMKSFAKAFISKANIGPRLTQVSVLQYGSITTIDVPWNVVPE   1681 - 1750
KAHLLSLVDVMQREGGPSQIGDALGFAVRYLTSEMHGARPGASKAVVILVTDVSVDSVDAAADAARSNRV   1751 - 1820
TVFPIGIGDRYDAAQLRILAGPAGDSNVVKLQRIEDLPTMVTLGNSFLHKLCSGFVRICMDEDGNEKRPG   1821 - 1890
DVWTLPDQCHTVTCQPDGQTLLKSHRVNCDRGLRPSCPNSQSPVKVEETCGCRWTCPCVCTGSSTRHIVT   1891 - 1960
FDGQNFKLTGSCSYVLFQNKEQDLEVILHNGACSPGARQGCMKSIEVKHSALSVELHSDMEVTVNGRLVS   1961 - 2030
VPYVGGNMEVNVYGAIMHEVRFNHLGHIFTFTPQNNEFQLQLSPKTFASKTYGLCGICDENGANDFMLRD   2031 - 2100
GTVTTDWKTLVQEWTVQRPGQTCQPILEEQCLVPDSSHCQVLLLPLFAECHKVLAPATFYAICQQDSCHQ   2101 - 2170
EQVCEVIASYAHLCRTNGVCVDWRTPDFCAMSCPPSLVYNHCEHGCPRHCDGNVSSCGDHPSEGCFCPPD   2171 - 2240
KVMLEGSCVPEEACTQCIGEDGVQHQFLEAWVPDHQPCQICTCLSGRKVNCTTQPCPTAKAPTCGLCEVA   2241 - 2310
RLRQNADQCCPEYECVCDPVSCDLPPVPHCERGLQPTLTNPGECRPNFTCACRKEECKRVSPPSCPPHRL   2311 - 2380
PTLRKTQCCDEYECACNCVNSTVSCPLGYLASTATNDCGCTTTTCLPDKVCVHRSTIYPVGQFWEEGCDV   2381 - 2450
CTCTDMEDAVMGLRVAQCSQKPCEDSCRSGFTYVLHEGECCGRCLPSACEVVTGSPRGDSQSSWKSVGSQ   2451 - 2520
WASPENPCLINECVRVKEEVFIQQRNVSCPQLEVPVCPSGFQLSCKTSACCPSCRCERMEACMLNGTVIG   2521 - 2590
PGKTVMIDVCTTCRCMVQVGVISGFKLECRKTTCNPCPLGYKEENNTGECCGRCLPTACTIQLRGGQIMT   2591 - 2660
LKRDETLQDGCDTHFCKVNERGEYFWEKRVTGCPPFDEHKCLAEGGKIMKIPGTCCDTCEEPECNDITAR   2661 - 2730
LQYVKVGSCKSEVEVDIHYCQGKCASKAMYSIDINDVQDQCSCCSPTRTEPMQVALHCTNGSVVYHEVLN   2731 - 2800
AMECKCSPRKCSK                                                            2801 - 2813
//

Text Mined References (752)

PMID Year Title
27060324 2016 [Association of von Willebrand factor gene polymorphisms with coronary artery disease among ethnic southern Han Chinese].
26871104 2016 Single-molecule force measurements of the polymerizing dimeric subunit of von Willebrand factor.
26827609 2016 Role of von Willebrand Factor--A1 Domain Variants P1266L, H1268D, C1272R, and C1272F in VWD: A Molecular Modeling and Simulation Analysis Approach.
26773038 2016 N-linked glycan stabilization of the VWF A2 domain.
26744078 2016 A role of stochastic phenotype switching in generating mosaic endothelial cell heterogeneity.
26677223 2016 Mutational Constraints on Local Unfolding Inhibit the Rheological Adaptation of von Willebrand Factor.
26670633 2016 von Willebrand factor is dimerized by protein disulfide isomerase.
26645283 2015 Apoptotic Platelet Events Are Not Observed in Severe von Willebrand Disease-Type 2B Mutation p.V1316M.
26616301 2016 Acquired von Willebrand factor deficiency caused by LVAD is ADAMTS-13 and platelet dependent.
26600159 2015 Genome-Wide Association Study Identifies That the ABO Blood Group System Influences Interleukin-10 Levels and the Risk of Clinical Events in Patients with Acute Coronary Syndrome.
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