ADA, adenosine deaminase, 100

N. diseases: 18; N. variants: 57
Disease: SCID Due to ADA Deficiency, Early-Onset ×
Source: CURATED ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555844120
rs1555844120
Entrez Id: 100;11142
Gene Symbol: ADA;PKIG
ADA;PKIG
CUI: C1863236
Disease:
SCID Due to ADA Deficiency, Early-Onset 		A 0.700 CausalMutation CLINVAR Combined immunodeficiencies: twenty years experience from a single center in Turkey. 27095930 2016
dbSNP: rs1555844120
rs1555844120
Entrez Id: 100;11142
Gene Symbol: ADA;PKIG
ADA;PKIG
CUI: C1863236
Disease:
SCID Due to ADA Deficiency, Early-Onset 		A 0.700 CausalMutation CLINVAR Patients with adenosine deaminase deficiency surviving after hematopoietic stem cell transplantation are at high risk of CNS complications. 17185467 2007