JAK3, Janus kinase 3, 3718

N. diseases: 194; N. variants: 28
Disease: Complete Trisomy 21 Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		0.020 GeneticVariation disease BEFREE These results suggest that the JAK3 activating mutation is an early event during leukaemogenesis in Down syndrome, and they provide proof-of-principle evidence that JAK3 inhibitors would have therapeutic effects on TMD and DS-AMKL patients carrying activating JAK3 mutations. 18397343 2008
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		0.020 GeneticVariation disease BEFREE Our data suggest that both gain-, and loss-of function mutations of jak3 can be acquired in DS-TMD/AMKL. 17456055 2007