rs1557196978, ATP6AP1

N. diseases: 8
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
IMMUNODEFICIENCY 47
CUI: C4310819
Disease: IMMUNODEFICIENCY 47
0.700 CausalMutation CLINVAR Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG. 29396028 2018
Abnormality of copper homeostasis
CUI: C4023689
Disease: Abnormality of copper homeostasis
0.700 CausalMutation CLINVAR Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG. 29396028 2018
Hepatosplenomegaly
CUI: C0019214
Disease: Hepatosplenomegaly
0.700 CausalMutation CLINVAR Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG. 29396028 2018
Abnormality of the immune system
CUI: C4021753
Disease: Abnormality of the immune system
0.700 CausalMutation CLINVAR Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG. 29396028 2018
Exocrine pancreatic insufficiency
CUI: C0267963
Disease: Exocrine pancreatic insufficiency
0.700 CausalMutation CLINVAR Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG. 29396028 2018
Cutis Laxa
CUI: C0010495
Disease: Cutis Laxa
0.700 CausalMutation CLINVAR Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG. 29396028 2018
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG. 29396028 2018
Decreased serum ceruloplasmin
CUI: C0240997
Disease: Decreased serum ceruloplasmin
0.700 CausalMutation CLINVAR Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG. 29396028 2018