Disease: IMMUNODEFICIENCY 47 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4310819
Disease: IMMUNODEFICIENCY 47
IMMUNODEFICIENCY 47 		0.700 CausalMutation disease CLINVAR Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG. 29396028 2018
CUI: C4310819
Disease: IMMUNODEFICIENCY 47
IMMUNODEFICIENCY 47 		0.700 Biomarker disease GENOMICS_ENGLAND ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation. 27231034 2016
CUI: C4310819
Disease: IMMUNODEFICIENCY 47
IMMUNODEFICIENCY 47 		0.700 GeneticVariation disease UNIPROT ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation. 27231034 2016
CUI: C4310819
Disease: IMMUNODEFICIENCY 47
IMMUNODEFICIENCY 47 		0.700 Biomarker disease GENOMICS_ENGLAND ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation. 27231034 2016
CUI: C4310819
Disease: IMMUNODEFICIENCY 47
IMMUNODEFICIENCY 47 		0.700 Biomarker disease CTD_human