JAK3, Janus kinase 3, 3718

N. diseases: 194; N. variants: 28
Disease: Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852624
rs137852624
Entrez Id: 3718
Gene Symbol: JAK3
JAK3
CUI: C1833275
Disease:
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative 		0.700 GeneticVariation UNIPROT Janus kinase 3 (JAK3) deficiency: clinical, immunologic, and molecular analyses of 10 patients and outcomes of stem cell transplantation. 14615376 2004
dbSNP: rs137852624
rs137852624
Entrez Id: 3718
Gene Symbol: JAK3
JAK3
CUI: C1833275
Disease:
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative 		0.700 GeneticVariation UNIPROT Complete genomic organization of the human JAK3 gene and mutation analysis in severe combined immunodeficiency by single-strand conformation polymorphism. 10982185 2000
dbSNP: rs137852624
rs137852624
Entrez Id: 3718
Gene Symbol: JAK3
JAK3
CUI: C1833275
Disease:
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative 		0.700 GeneticVariation UNIPROT Molecular and biochemical characterization of JAK3 deficiency in a patient with severe combined immunodeficiency over 20 years after bone marrow transplantation: implications for treatment. 9753072 1998
dbSNP: rs137852624
rs137852624
Entrez Id: 3718
Gene Symbol: JAK3
JAK3
CUI: C1833275
Disease:
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative 		0.700 GeneticVariation UNIPROT Structural and functional basis for JAK3-deficient severe combined immunodeficiency. 9354668 1997
dbSNP: rs137852624
rs137852624
Entrez Id: 3718
Gene Symbol: JAK3
JAK3
CUI: C1833275
Disease:
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative 		0.700 GeneticVariation UNIPROT Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID). 7659163 1995