Disease: Immune dysfunction with T-cell inactivation due to calcium entry defect 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2748568
Disease: Immune dysfunction with T-cell inactivation due to calcium entry defect 1
Immune dysfunction with T-cell inactivation due to calcium entry defect 1 		0.700 Biomarker disease GENOMICS_ENGLAND ORAI1 deficiency and lack of store-operated Ca2+ entry cause immunodeficiency, myopathy, and ectodermal dysplasia. 20004786 2009
CUI: C2748568
Disease: Immune dysfunction with T-cell inactivation due to calcium entry defect 1
Immune dysfunction with T-cell inactivation due to calcium entry defect 1 		0.700 Biomarker disease GENOMICS_ENGLAND A mutation in Orai1 causes immune deficiency by abrogating CRAC channel function. 16582901 2006
CUI: C2748568
Disease: Immune dysfunction with T-cell inactivation due to calcium entry defect 1
Immune dysfunction with T-cell inactivation due to calcium entry defect 1 		0.700 GeneticVariation disease UNIPROT A mutation in Orai1 causes immune deficiency by abrogating CRAC channel function. 16582901 2006
CUI: C2748568
Disease: Immune dysfunction with T-cell inactivation due to calcium entry defect 1
Immune dysfunction with T-cell inactivation due to calcium entry defect 1 		0.700 GeneticVariation disease UNIPROT A severe defect in CRAC Ca2+ channel activation and altered K+ channel gating in T cells from immunodeficient patients. 16147976 2005
CUI: C2748568
Disease: Immune dysfunction with T-cell inactivation due to calcium entry defect 1
Immune dysfunction with T-cell inactivation due to calcium entry defect 1 		0.700 CausalMutation disease CLINVAR
CUI: C2748568
Disease: Immune dysfunction with T-cell inactivation due to calcium entry defect 1
Immune dysfunction with T-cell inactivation due to calcium entry defect 1 		0.700 GermlineCausalMutation disease ORPHANET
CUI: C2748568
Disease: Immune dysfunction with T-cell inactivation due to calcium entry defect 1
Immune dysfunction with T-cell inactivation due to calcium entry defect 1 		0.700 Biomarker disease CTD_human