TYK2, tyrosine kinase 2, 7297

N. diseases: 172; N. variants: 22
Disease: Tyrosine Kinase 2 Deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1969086
Disease: Tyrosine Kinase 2 Deficiency
Tyrosine Kinase 2 Deficiency 		0.720 Biomarker disease BEFREE Data on TYK2 dependence on cytokine responses and in vivo consequences of TYK2 deficiency are inconsistent. 27615517 2016
CUI: C1969086
Disease: Tyrosine Kinase 2 Deficiency
Tyrosine Kinase 2 Deficiency 		0.720 Biomarker disease GENOMICS_ENGLAND Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome. 26304966 2015
CUI: C1969086
Disease: Tyrosine Kinase 2 Deficiency
Tyrosine Kinase 2 Deficiency 		0.720 GeneticVariation disease CLINVAR Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome. 26304966 2015
CUI: C1969086
Disease: Tyrosine Kinase 2 Deficiency
Tyrosine Kinase 2 Deficiency 		0.720 GeneticVariation disease CLINVAR A patient with tyrosine kinase 2 deficiency without hyper-IgE syndrome. 22402565 2012
CUI: C1969086
Disease: Tyrosine Kinase 2 Deficiency
Tyrosine Kinase 2 Deficiency 		0.720 GermlineCausalMutation disease ORPHANET The hyper IgE syndrome and mutations in TYK2. 17521577 2007
CUI: C1969086
Disease: Tyrosine Kinase 2 Deficiency
Tyrosine Kinase 2 Deficiency 		0.720 CausalMutation disease CLINVAR This study identifies human Tyk2 deficiency and demonstrates that Tyk2 plays obligatory roles in multiple cytokine signals involved in innate and acquired immunity of humans, which differs substantially from Tyk2 function in mice. 17088085 2006
CUI: C1969086
Disease: Tyrosine Kinase 2 Deficiency
Tyrosine Kinase 2 Deficiency 		0.720 GermlineCausalMutation disease ORPHANET This study identifies human Tyk2 deficiency and demonstrates that Tyk2 plays obligatory roles in multiple cytokine signals involved in innate and acquired immunity of humans, which differs substantially from Tyk2 function in mice. 17088085 2006
CUI: C1969086
Disease: Tyrosine Kinase 2 Deficiency
Tyrosine Kinase 2 Deficiency 		0.720 Biomarker disease BEFREE This study identifies human Tyk2 deficiency and demonstrates that Tyk2 plays obligatory roles in multiple cytokine signals involved in innate and acquired immunity of humans, which differs substantially from Tyk2 function in mice. 17088085 2006
CUI: C1969086
Disease: Tyrosine Kinase 2 Deficiency
Tyrosine Kinase 2 Deficiency 		0.720 Biomarker disease CTD_human