JAK2, Janus kinase 2, 3717

N. diseases: 644; N. variants: 54
Disease: Congenital chromosomal disease ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77375493
rs77375493
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C0008626
Disease:
Congenital chromosomal disease 		0.040 GeneticVariation BEFREE Among 50 PMF patients, CALR mutations were detected in 11 (22.0%) and were also associated with higher platelet counts (P=0.035) and trended to a lower rate of cytogenetic abnormalities (P=0.059) than the JAK2 V617F mutation. 26130950 2015
dbSNP: rs77375493
rs77375493
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C0008626
Disease:
Congenital chromosomal disease 		0.040 GeneticVariation BEFREE Cytogenetic abnormalities and molecular markers such as JAK2 V617F, ASXL1, and CALR mutations have also been identified as prognostic variables. 25189726 2014
dbSNP: rs77375493
rs77375493
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C0008626
Disease:
Congenital chromosomal disease 		0.040 GeneticVariation BEFREE We studied 176 patients, all enrolled on prospective treatment trials, for secondary chromosomal aberrations and mutations in N-/KRAS, KIT, FLT3, and JAK2 (V617F) genes. 23115274 2013
dbSNP: rs77375493
rs77375493
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C0008626
Disease:
Congenital chromosomal disease 		0.040 GeneticVariation BEFREE Translocation t(1;9) is a recurrent cytogenetic abnormality associated with progression of essential thrombocythemia patients displaying the JAK2 V617F mutation. 21376394 2011