rs77375493, INSL6;JAK2

N. diseases: 187
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.010 GeneticVariation BEFREE Molecular analysis of V617F mutation in Janus kinase 2 gene of breast cancer patients. 31516339 2019
Arteriopathic disease
CUI: C0852949
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
Autoimmune thrombocytopenia
CUI: C0242584
Disease: Autoimmune thrombocytopenia
0.010 GeneticVariation BEFREE JAK2 V617F-positive essential thrombocythemia with subsequent development of immune thrombocytopenia: A case report. 31689837 2019
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
Petechiae
CUI: C0031256
Disease: 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
Inflammatory Bowel Diseases
CUI: C0021390
Disease: 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
Monocytosis
CUI: C0085702
Disease: 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
Petechiae of skin
CUI: C0241144
Disease: 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
Immune thrombocytopenic purpura
CUI: C0398650
Disease: Immune thrombocytopenic purpura
0.010 GeneticVariation BEFREE JAK2 V617F-positive essential thrombocythemia with subsequent development of immune thrombocytopenia: A case report. 31689837 2019
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.010 GeneticVariation BEFREE Molecular analysis of V617F mutation in Janus kinase 2 gene of breast cancer patients. 31516339 2019
Heparin-induced thrombocytopenia
CUI: C0272285
Disease: 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
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
Pulmonary congestion
CUI: C0242073
Disease: 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
Renal Artery Stenosis
CUI: C0035067
Disease: 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
Pancreatic carcinoma
CUI: C0235974
Disease: 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
Hypertension, Renovascular
CUI: C0020545
Disease: Hypertension, Renovascular
0.010 GeneticVariation BEFREE Evaluations revealed right renal artery stenosis causing renovascular hypertension and polycythemia vera with JAK2 V617F mutation. 29656438 2018
Trigeminal Neuralgia
CUI: C0040997
Disease: 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
Malignant neoplasm of pancreas
CUI: C0346647
Disease: 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
Toxic Epidermal Necrolysis
CUI: C0014518
Disease: 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
Sagittal Sinus Thrombosis
CUI: C0338575
Disease: Sagittal Sinus Thrombosis
0.010 GeneticVariation BEFREE Sagittal sinus thrombosis in JAK2-V617F mutation without overt myeloproliferative disorder. 28228434 2017
Acquired von Willebrand's disease
CUI: C0272362
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
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: 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
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: 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
Idiopathic pulmonary arterial hypertension
0.010 GeneticVariation BEFREE Correlation analysis between JAK2 V617F allele burden and other parameters revealed: statistical significant correlation with age, HB, HCT, PLT, UA, LDH, and splenic diameter but insignificant correlation with WBCs and PAH. 27468853 2016
Malignant neoplasm of duodenum
CUI: C0153426
Disease: 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