Source: LHGDN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3718
Gene Symbol: JAK3
JAK3
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.030 GeneticVariation LHGDN In a series of human AMKL samples from both Down syndrome and non-Down syndrome patients, mutations were identified within KIT, FLT3, JAK2, JAK3, and MPL genes, with a higher frequency in DS than in non-DS patients. 18755984

2008
Entrez Id: 3718
Gene Symbol: JAK3
JAK3
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.030 GeneticVariation LHGDN 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
Entrez Id: 3718
Gene Symbol: JAK3
JAK3
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.030 GeneticVariation LHGDN Our data suggest that both gain-, and loss-of function mutations of jak3 can be acquired in DS-TMD/AMKL. 17456055

2007