Source: CURATED ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5591
Gene Symbol: PRKDC
PRKDC 		0.700 Biomarker disease GENOMICS_ENGLAND PRKDC mutations associated with immunodeficiency, granuloma, and autoimmune regulator-dependent autoimmunity. 25842288 2015
Entrez Id: 3718
Gene Symbol: JAK3
JAK3 		0.700 Biomarker disease CTD_human We discuss how the identification of mutations of Jak3 in autosomal recessive SCID has facilitated the diagnosis of these disorders, offered new insights into the biology of this kinase, permitted new avenues for therapy, and provided the rationale for a generation of a new class of immunosuppressants. 15661026 2005
Entrez Id: 3718
Gene Symbol: JAK3
JAK3 		0.700 Biomarker disease CTD_human Herein, we discuss the normal actions of the gammac cytokines, the pathogenesis and treatment protocols for SCID, and finally, the production of a new, selective Jak3 inhibitor capable of preventing transplant rejection in two animal models. 15220007 2004
Entrez Id: 3718
Gene Symbol: JAK3
JAK3 		0.700 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 5896
Gene Symbol: RAG1
RAG1 		0.700 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 916
Gene Symbol: CD3E
CD3E 		0.620 Biomarker disease CLINGEN Successful haploidentical hematopoietic stem cell transplantation in a patient with SCID due to CD3ε deficiency: need for IgG-substitution 6 years later. 24515816 2014
Entrez Id: 916
Gene Symbol: CD3E
CD3E 		0.620 Biomarker disease CLINGEN Severe combined immunodeficiency caused by deficiency in either the delta or the epsilon subunit of CD3. 15546002 2004
Entrez Id: 916
Gene Symbol: CD3E
CD3E 		0.620 Biomarker disease CTD_human Severe combined immunodeficiency caused by deficiency in either the delta or the epsilon subunit of CD3. 15546002 2004
Entrez Id: 916
Gene Symbol: CD3E
CD3E 		0.620 Biomarker disease GENOMICS_ENGLAND A block in both early T lymphocyte and natural killer cell development in transgenic mice with high-copy numbers of the human CD3E gene. 7937778 1994
Entrez Id: 916
Gene Symbol: CD3E
CD3E 		0.620 Biomarker disease CLINGEN A block in both early T lymphocyte and natural killer cell development in transgenic mice with high-copy numbers of the human CD3E gene. 7937778 1994
Entrez Id: 916
Gene Symbol: CD3E
CD3E 		0.620 Biomarker disease CLINGEN Independent mutations of the human CD3-epsilon gene resulting in a T cell receptor/CD3 complex immunodeficiency. 8490660 1993
Entrez Id: 916
Gene Symbol: CD3E
CD3E 		0.620 Biomarker disease CLINGEN Structural analysis of low TCR-CD3 complex expression in T cells of an immunodeficient patient. 1370449 1992
Entrez Id: 916
Gene Symbol: CD3E
CD3E 		0.620 Biomarker disease CLINGEN Pairwise, cooperative and inhibitory interactions describe the assembly and probable structure of the T-cell antigen receptor. 1828760 1991
Entrez Id: 7535
Gene Symbol: ZAP70
ZAP70 		0.600 Biomarker disease GENOMICS_ENGLAND Loss of the Protein Tyrosine Phosphatase PTPN22 Reduces Mannan-Induced Autoimmune Arthritis in SKG Mice. 27288531 2016
Entrez Id: 7535
Gene Symbol: ZAP70
ZAP70 		0.600 Biomarker disease CTD_human Here, three siblings are described with an autosomal recessive form of severe combined immunodeficiency disease (SCID) in which ZAP-70, a non-Src PTK, is absent as a result of mutations in the ZAP-70 gene. 8202713 1994
Entrez Id: 7535
Gene Symbol: ZAP70
ZAP70 		0.600 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 915
Gene Symbol: CD3D
CD3D 		0.540 Biomarker disease CTD_human Severe combined immunodeficiency caused by deficiency in either the delta or the epsilon subunit of CD3. 15546002 2004
Entrez Id: 915
Gene Symbol: CD3D
CD3D 		0.540 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 100
Gene Symbol: ADA
ADA 		0.500 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 3981
Gene Symbol: LIG4
LIG4 		0.500 Biomarker disease GENOMICS_ENGLAND Identification of Variants in Genes Associated with Single-gene Inflammatory Bowel Disease by Whole-exome Sequencing. 27537055 2016
Entrez Id: 3575
Gene Symbol: IL7R
IL7R 		0.500 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 3561
Gene Symbol: IL2RG
IL2RG 		0.500 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 5897
Gene Symbol: RAG2
RAG2 		0.500 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 3981
Gene Symbol: LIG4
LIG4 		0.500 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 64421
Gene Symbol: DCLRE1C
DCLRE1C 		0.500 Biomarker disease GENOMICS_ENGLAND