rs77375493, INSL6;JAK2

N. diseases: 187
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Vertical Talus
CUI: C0240912
Disease: Vertical Talus
0.030 GeneticVariation BEFREE JAK2 V617F was positive in four out of seven patients with PVT and in one CVT patient. 21893442 2011
Vertical Talus
CUI: C0240912
Disease: Vertical Talus
0.030 GeneticVariation BEFREE Screening for the JAK2 V617F mutation in CVT patients seems to be useful even in the absence of overt MPN and/or in the presence of other risk factors for CVT because of its relatively high prevalence and the risk of thrombosis recurrence. 28609766 2017
Vertical Talus
CUI: C0240912
Disease: Vertical Talus
0.030 GeneticVariation BEFREE Thrombophilia abnormalities were significantly more prevalent in the MPN-CVT and MPN-VT than in MPN-NoT group (P = 0.015), as well as the JAK2 V617F mutation in patients with essential thrombocythemia (P = 0.059). 25042466 2014
Venous Thromboembolism
CUI: C1861172
Disease: Venous Thromboembolism
0.060 GeneticVariation BEFREE The somatic mutation of JAK2 V617F and CALR mutations are less frequent causes of VTE, thus routine testing for these mutations is not recommended. 26304686 2017
Venous Thromboembolism
CUI: C1861172
Disease: Venous Thromboembolism
0.060 GeneticVariation BEFREE Furthermore, patients affected by essential thrombocythemia who are carriers of the Janus kinase 2 Val617Phe mutation show a higher incidence of venous thromboembolism both before, and at the time of diagnosis, compared with noncarriers, and recent evidence of splanchnic and cerebral vein thrombosis in carriers of the Janus kinase 2 Val617Phe mutation has been reported. 18600099 2008
Venous Thromboembolism
CUI: C1861172
Disease: Venous Thromboembolism
0.060 GeneticVariation BEFREE The JAK2(V617F)mutation is recurrent in polycythemia vera and essential thrombocythemia, which are myeloproliferative neoplasms frequently associated with arterial and venous thromboembolism. 20551270 2010
Venous Thromboembolism
CUI: C1861172
Disease: Venous Thromboembolism
0.060 GeneticVariation BEFREE The JAK2 (Janus kinase 2) V617F mutation is a well-known point mutation which is involved in the pathogenesis of IBD, and VTE. 31069840 2019
Venous Thromboembolism
CUI: C1861172
Disease: Venous Thromboembolism
0.060 GeneticVariation BEFREE JAK2 V617F somatic mutation positives versus negatives had higher erythrocyte (P = 2 × 10(-5) ), thrombocyte (P = 2 × 10(-16) ), and leucocyte (P = 4 × 10(-9) ) counts, and had 2·7-/2·5-fold risk of cancer (prevalent/incident), 44-/28-fold risk of haematological cancer, 221-/97-fold risk of myeloproliferative cancer, 2·2-/1·2-fold risk of ischaemic heart disease, and 3·1-/1·0-fold risk of venous thromboembolism. 23116358 2013
Venous Thromboembolism
CUI: C1861172
Disease: Venous Thromboembolism
0.060 GeneticVariation BEFREE Individuals harboring JAK2 V617F mutation, regardless of MPN type, were at higher risk of VTE (OR=5.15, 95%CI: 1.16-22.90, P=0.024), mainly deep vein thrombosis (DVT). 25559461 2015
Vascular Hemostatic Disorders
CUI: C0600502
Disease: Vascular Hemostatic Disorders
0.010 GeneticVariation BEFREE JAK2(V617F), the main mutation involved in MPN, is considered as a risk factor for thrombosis, although the direct link between the mutation and hemostatic disorders is not strictly established. 24951423 2014
Undifferentiated leukemia
CUI: C1378511
Disease: Undifferentiated leukemia
0.010 GeneticVariation BEFREE It is hoped that the same will happen in other MPN with specific genetic alterations: polycythemia vera (JAK2 V617F and other JAK2 mutations), essential thrombocythemia (JAK2V617F and MPL515 mutations), primary myelofibrosis (JAK2 V617F and MPL515 mutations), systemic mastocytosis (KITD816V and other KIT mutations) and stem cell leukaemia/lymphoma (ZNF198-FGFR1 and other FGFR1 fusion genes). 19175693 2009
Tumor Progression
CUI: C0178874
Disease: Tumor Progression
0.010 GeneticVariation BEFREE A role for reactive oxygen species in JAK2 V617F myeloproliferative neoplasm progression. 23558526 2013
Tuberculosis
CUI: C0041296
Disease: Tuberculosis
0.010 GeneticVariation BEFREE We present here a 56-year-old woman with PV harboring a JAK2(V617F) mutation that had a diffuse reticulonodular pattern on chest radiography and was initially suspected of having military tuberculosis. 21790864 2011
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
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
Thymoma
CUI: C0040100
Disease: Thymoma
0.010 GeneticVariation BEFREE This activity was coupled with inhibition of phosphorylation of the key JAK2(V617F)-dependent downstream signaling effectors signal transducer and activator of transcription (STAT)3, STAT5, and v-akt murine thymoma viral oncogene homolog (AKT). 18482053 2008
Thrombosis of cerebral veins
CUI: C0151945
Disease: Thrombosis of cerebral veins
0.040 GeneticVariation BEFREE To assess the incidence of the JAK2 V617F mutation among patients with splanchnic or cerebral venous thrombosis with or without overt CMD. 17263783 2007
Thrombosis of cerebral veins
CUI: C0151945
Disease: Thrombosis of cerebral veins
0.040 GeneticVariation BEFREE Furthermore, patients affected by essential thrombocythemia who are carriers of the Janus kinase 2 Val617Phe mutation show a higher incidence of venous thromboembolism both before, and at the time of diagnosis, compared with noncarriers, and recent evidence of splanchnic and cerebral vein thrombosis in carriers of the Janus kinase 2 Val617Phe mutation has been reported. 18600099 2008
Thrombosis of cerebral veins
CUI: C0151945
Disease: Thrombosis of cerebral veins
0.040 GeneticVariation BEFREE Patients with cerebral venous thrombosis can carry the JAK2 V617F mutation, irrespective of blood count. 22469236 2012
Thrombosis of cerebral veins
CUI: C0151945
Disease: Thrombosis of cerebral veins
0.040 GeneticVariation BEFREE Should We Screen for Janus Kinase 2 V617F Mutation in Cerebral Venous Thrombosis? 28609766 2017
Thrombophilia, hereditary
CUI: C2584620
Disease: Thrombophilia, hereditary
0.010 GeneticVariation BEFREE Primary thrombophilia in México VII: the V617F mutation of JAK2 is not a frequent cause of thrombosis. 18796251 2008
Thrombophilia
CUI: C0398623
Disease: Thrombophilia
0.080 GeneticVariation BEFREE We used the thrombin generation assay to evaluate the hypercoagulable state according to JAK2(V617F) mutational status in essential thrombocythemia (ET) and polycythemia vera (PV) patients. 18768782 2008
Thrombophilia
CUI: C0398623
Disease: Thrombophilia
0.080 GeneticVariation BEFREE Impact of common thrombophilias and JAK2 V617F on pregnancy outcomes in unselected Italian women. 21232003 2011
Thrombophilia
CUI: C0398623
Disease: Thrombophilia
0.080 GeneticVariation BEFREE A work-up for JAK2 V617F mutation and thrombophilia was done. 23941968 2013
Thrombophilia
CUI: C0398623
Disease: Thrombophilia
0.080 GeneticVariation BEFREE Accordingly, it seems that the investigation for the V617F mutation of the JAK2 gene is not mandatory in all Mexican mestizo patients with unexplained thrombophilia and that this genetic study should be reserved for special cases, such as patients with thrombosis in uncommon sites or patients with cell counts suggesting the presence of an underlying MPD. 18796251 2008