Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77375493
rs77375493
CUI: C0242584
Disease: Autoimmune thrombocytopenia
Autoimmune thrombocytopenia
0.010 GeneticVariation BEFREE JAK2 V617F-positive essential thrombocythemia with subsequent development of immune thrombocytopenia: A case report. 31689837

2019

dbSNP: rs77375493
rs77375493
CUI: C0241144
Disease: Petechiae of skin
Petechiae of skin
0.010 GeneticVariation BEFREE A 70-year-old woman with a five-year history of ET with JAK2 V617F mutation treated with hydroxycarbamide for five months presented with petechiae on her limbs. 31689837

2019

dbSNP: rs77375493
rs77375493
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
0.010 GeneticVariation BEFREE Moreover, despite the absence of JAK2 V617F mutation in patients with IBD, the increased gene expression of JAK2 can be explained by another molecular mechanism such as regulation of gene expression at the transcriptional level which may play crucial roles in the pathogenesis of IBD. 31069840

2019

dbSNP: rs77375493
rs77375493
CUI: C0085702
Disease: Monocytosis
Monocytosis
0.010 GeneticVariation BEFREE We conclude that besides morphology of megakaryocytes and other features, JAK2 V617F allelic burden can help differentiate CMML from PMF with monocytosis. 30447300

2019

dbSNP: rs77375493
rs77375493
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 GeneticVariation BEFREE Molecular analysis of V617F mutation in Janus kinase 2 gene of breast cancer patients. 31516339

2019

dbSNP: rs77375493
rs77375493
Thrombocytopenia due to platelet alloimmunization
0.010 GeneticVariation BEFREE JAK2 V617F-positive essential thrombocythemia with subsequent development of immune thrombocytopenia: A case report. 31689837

2019

dbSNP: rs77375493
rs77375493
CUI: C0398650
Disease: Immune thrombocytopenic purpura
Immune thrombocytopenic purpura
0.010 GeneticVariation BEFREE JAK2 V617F-positive essential thrombocythemia with subsequent development of immune thrombocytopenia: A case report. 31689837

2019

dbSNP: rs77375493
rs77375493
CUI: C0852949
Disease: Arteriopathic disease
Arteriopathic disease
0.010 GeneticVariation BEFREE The current study describes rare cases of SAH accompanied by ischemic stroke secondary to ET along with a review of the current literature, implying specific mechanisms for cerebral artery disorders associated with JAK2 V617F mutation. 31049728

2019

dbSNP: rs77375493
rs77375493
CUI: C0031256
Disease: Petechiae
Petechiae
0.010 GeneticVariation BEFREE A 70-year-old woman with a five-year history of ET with JAK2 V617F mutation treated with hydroxycarbamide for five months presented with petechiae on her limbs. 31689837

2019

dbSNP: rs77375493
rs77375493
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE Molecular analysis of V617F mutation in Janus kinase 2 gene of breast cancer patients. 31516339

2019

dbSNP: rs77375493
rs77375493
CUI: C0020545
Disease: Hypertension, Renovascular
Hypertension, Renovascular
0.010 GeneticVariation BEFREE Evaluations revealed right renal artery stenosis causing renovascular hypertension and polycythemia vera with JAK2 V617F mutation. 29656438

2018

dbSNP: rs77375493
rs77375493
CUI: C0272285
Disease: Heparin-induced thrombocytopenia
Heparin-induced thrombocytopenia
0.010 GeneticVariation BEFREE Our data show that HIT is more frequent, during heparin treatment, in patients with ET carrying V617F mutation, as compared with patients without mutations (P = 0.029). 29022213

2018

dbSNP: rs77375493
rs77375493
CUI: C0040997
Disease: Trigeminal Neuralgia
Trigeminal Neuralgia
0.010 GeneticVariation BEFREE There was no significant difference in the occurrence of thrombotic events among CARL-mutant, JAK2 V617F-mutant and TN patients. 29725364

2018

dbSNP: rs77375493
rs77375493
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.010 GeneticVariation BEFREE The expanding scope of creative impact is perhaps most startling-from NCI-funded built environments to AACR Team Science Awarded studies of Asian cancer genomes informing global primary prevention policies; cell-free epigenetic marks identifying incipient neoplastic site; practice-changing genomic subclasses in myeloproliferative neoplasia (including germline variant tightly linked to JAK2 V617F haplotype); universal germline genetic testing for pancreatic cancer; and repurposing drugs targeting immune- and stem-cell signals (e.g., IL-1β, PD-1, RANK-L) to cancer interception. 30530635

2018

dbSNP: rs77375493
rs77375493
Heparin-induced thrombocytopenia with thrombosis
0.010 GeneticVariation BEFREE High prevalence of heparin induced thrombocytopenia with thrombosis among patients with essential thrombocytemia carrying V617F mutation. 29022213

2018

dbSNP: rs77375493
rs77375493
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
0.010 GeneticVariation BEFREE The expanding scope of creative impact is perhaps most startling-from NCI-funded built environments to AACR Team Science Awarded studies of Asian cancer genomes informing global primary prevention policies; cell-free epigenetic marks identifying incipient neoplastic site; practice-changing genomic subclasses in myeloproliferative neoplasia (including germline variant tightly linked to JAK2 V617F haplotype); universal germline genetic testing for pancreatic cancer; and repurposing drugs targeting immune- and stem-cell signals (e.g., IL-1β, PD-1, RANK-L) to cancer interception. 30530635

2018

dbSNP: rs77375493
rs77375493
CUI: C0242073
Disease: Pulmonary congestion
Pulmonary congestion
0.010 GeneticVariation BEFREE TN patients had a significantly lower incidence of clinical symptoms, including dizziness, palpitation and chest congestion compared with CALR- or JAK2 V617F-mutant patients (14.1 vs. 39.1%; P=0.043 and 14.1 vs. 38.1%; P=0.050). 29725364

2018

dbSNP: rs77375493
rs77375493
CUI: C0035067
Disease: Renal Artery Stenosis
Renal Artery Stenosis
0.010 GeneticVariation BEFREE Evaluations confirmed left renal artery stenosis and essential thrombocythemia with JAK2 V617F.Angioplasty cured the hypertension. 29656438

2018

dbSNP: rs77375493
rs77375493
CUI: C0338575
Disease: Sagittal Sinus Thrombosis
Sagittal Sinus Thrombosis
0.010 GeneticVariation BEFREE Sagittal sinus thrombosis in JAK2-V617F mutation without overt myeloproliferative disorder. 28228434

2017

dbSNP: rs77375493
rs77375493
CUI: C0272362
Disease: Acquired von Willebrand's disease
Acquired von Willebrand's disease
0.010 GeneticVariation BEFREE Among ET patients, JAK2 V617F was a main driver for the development of AVWS. 27919526

2017

dbSNP: rs77375493
rs77375493
CUI: C0014518
Disease: Toxic Epidermal Necrolysis
Toxic Epidermal Necrolysis
0.010 GeneticVariation BEFREE 26 (39%) of 66 haematological responders and 25 (71%) of 35 molecular responders (with the JAK2 Val617Phe mutation) have maintained some response during follow-up: 49% maintained their best molecular response (nine of ten patients who had a complete response, five of 20 who had a partial response, and three of five who had a minor response). 28291640

2017

dbSNP: rs77375493
rs77375493
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.010 GeneticVariation BEFREE Further analysis of TCGA genomic data revealed JAK2 gain or loss due to genetic alterations in NSCLC clinical samples are associated with significantly elevated or reduced PD-L1 expression, suggesting that the activating JAK2 p.V617F mutation could confer sensitivity to both JAK inhibitors and anti-PD1 immunotherapy. 29082853

2017

dbSNP: rs77375493
rs77375493
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.010 GeneticVariation BEFREE JAK2 V617F and N30S mutations and JAK2 amplification were detected by NGS in plasmid samples in patients with lung adenocarcinoma. 28639892

2017

dbSNP: rs77375493
rs77375493
CUI: C0153426
Disease: Malignant neoplasm of duodenum
Malignant neoplasm of duodenum
0.010 GeneticVariation BEFREE This report presents a case of a JAK2 V617F mutation falsely identified as a duodenal cancer mutation via NGS. 27956534

2016

dbSNP: rs77375493
rs77375493
CUI: C0162557
Disease: Liver Failure, Acute
Liver Failure, Acute
0.010 GeneticVariation BEFREE Here, a 22 year old female with angiographically proven BCS secondary to JAK2/V617F positive Polycythemia vera on therapeutic warfarin presented with acute liver failure (ALF). 26626649

2016