ADA, adenosine deaminase, 100

N. diseases: 379; N. variants: 61
Disease: SCID Due to ADA Deficiency, Early-Onset ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
SCID Due to ADA Deficiency, Early-Onset 		0.600 GeneticVariation disease CLINVAR Clinical, Laboratory, and Molecular Findings for 63 Patients With Severe Combined Immunodeficiency: A Decade´s Experience. 28266921 2019
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
SCID Due to ADA Deficiency, Early-Onset 		0.600 CausalMutation disease CLINVAR Combined immunodeficiencies: twenty years experience from a single center in Turkey. 27095930 2016
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
SCID Due to ADA Deficiency, Early-Onset 		0.600 CausalMutation disease CLINVAR Update on the safety and efficacy of retroviral gene therapy for immunodeficiency due to adenosine deaminase deficiency. 27129325 2016
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
SCID Due to ADA Deficiency, Early-Onset 		0.600 GeneticVariation disease CLINVAR Update on the safety and efficacy of retroviral gene therapy for immunodeficiency due to adenosine deaminase deficiency. 27129325 2016
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
SCID Due to ADA Deficiency, Early-Onset 		0.600 CausalMutation disease CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
SCID Due to ADA Deficiency, Early-Onset 		0.600 GeneticVariation disease CLINVAR Adenosine deaminase deficient severe combined immunodeficiency presenting as atypical haemolytic uraemic syndrome. 25875700 2015
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
SCID Due to ADA Deficiency, Early-Onset 		0.600 CausalMutation disease CLINVAR Spectrum of mutations in a cohort of UK patients with ADA deficient SCID: Segregation of genotypes with specific ethnicities. 26255240 2015
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
SCID Due to ADA Deficiency, Early-Onset 		0.600 GeneticVariation disease CLINVAR Diagnosis, Treatment and Long-Term Follow Up of Patients with ADA Deficiency: a Single-Center Experience. 26376800 2015
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
SCID Due to ADA Deficiency, Early-Onset 		0.600 GeneticVariation disease CLINVAR Spectrum of mutations in a cohort of UK patients with ADA deficient SCID: Segregation of genotypes with specific ethnicities. 26255240 2015
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
SCID Due to ADA Deficiency, Early-Onset 		0.600 CausalMutation disease CLINVAR Diagnosis, Treatment and Long-Term Follow Up of Patients with ADA Deficiency: a Single-Center Experience. 26376800 2015
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
SCID Due to ADA Deficiency, Early-Onset 		0.600 CausalMutation disease CLINVAR Adenosine deaminase deficient severe combined immunodeficiency presenting as atypical haemolytic uraemic syndrome. 25875700 2015
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
SCID Due to ADA Deficiency, Early-Onset 		0.600 CausalMutation disease CLINVAR Severe phenotype of severe combined immunodeficiency caused by adenosine deaminase deficiency in a patient with a homozygous mutation due to uniparental disomy. 23260757 2013
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
SCID Due to ADA Deficiency, Early-Onset 		0.600 GeneticVariation disease CLINVAR Severe combined immunodeficiency due to adenosine deaminase deficiency. 22764473 2012
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
SCID Due to ADA Deficiency, Early-Onset 		0.600 CausalMutation disease CLINVAR Atypical Omenn Syndrome due to Adenosine Deaminase Deficiency. 25954555 2012
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
SCID Due to ADA Deficiency, Early-Onset 		0.600 GeneticVariation disease CLINVAR Delayed onset adenosine deaminase deficiency associated with acute disseminated encephalomyelitis. 22447032 2012
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
SCID Due to ADA Deficiency, Early-Onset 		0.600 CausalMutation disease CLINVAR Gene therapy for adenosine deaminase-deficient severe combined immune deficiency: clinical comparison of retroviral vectors and treatment plans. 22968453 2012
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
SCID Due to ADA Deficiency, Early-Onset 		0.600 CausalMutation disease CLINVAR Clinical and immunological manifestations of patients with atypical severe combined immunodeficiency. 21664875 2011
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
SCID Due to ADA Deficiency, Early-Onset 		0.600 GeneticVariation disease CLINVAR Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B-SCID or Omenn syndrome. 21624848 2011
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
SCID Due to ADA Deficiency, Early-Onset 		0.600 GeneticVariation disease CLINVAR Clinical and immunological manifestations of patients with atypical severe combined immunodeficiency. 21664875 2011
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
SCID Due to ADA Deficiency, Early-Onset 		0.600 GeneticVariation disease CLINVAR Determination of adenosine deaminase activity in dried blood spots by a nonradiochemical assay using reversed-phase high-performance liquid chromatography. 20544538 2010
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
SCID Due to ADA Deficiency, Early-Onset 		0.600 GeneticVariation disease CLINVAR Gene therapy for immunodeficiency due to adenosine deaminase deficiency. 19179314 2009
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
SCID Due to ADA Deficiency, Early-Onset 		0.600 GeneticVariation disease CLINVAR Polyethylene glycol-modified adenosine deaminase improved lung disease but not liver disease in partial adenosine deaminase deficiency. 19665771 2009
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
SCID Due to ADA Deficiency, Early-Onset 		0.600 GeneticVariation disease CLINVAR Immunologic reconstitution during PEG-ADA therapy in an unusual mosaic ADA deficient patient. 18952502 2009
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
SCID Due to ADA Deficiency, Early-Onset 		0.600 GeneticVariation disease CLINVAR Patients with adenosine deaminase deficiency surviving after hematopoietic stem cell transplantation are at high risk of CNS complications. 17185467 2007
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
SCID Due to ADA Deficiency, Early-Onset 		0.600 CausalMutation disease CLINVAR Patients with adenosine deaminase deficiency surviving after hematopoietic stem cell transplantation are at high risk of CNS complications. 17185467 2007