JAK2, Janus kinase 2, 3717

N. diseases: 644; N. variants: 54
Disease: Toxic Epidermal Necrolysis ×
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: 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