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 Biomarker disease CTD_human
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.100 Biomarker disease HPO
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.100 Biomarker disease HPO
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		0.100 Biomarker phenotype HPO
CUI: C0020490
Disease: Hyperopia
Hyperopia 		0.100 Biomarker disease HPO
CUI: C0023530
Disease: Leukopenia
Leukopenia 		0.100 Biomarker disease HPO
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		0.100 Biomarker phenotype HPO
CUI: C1623038
Disease: Cirrhosis
Cirrhosis 		0.100 Biomarker disease HPO
CUI: C1844383
Disease: Recurrent bacterial infection
Recurrent bacterial infection 		0.100 Biomarker phenotype HPO
CUI: C1845977
Disease: X- linked recessive
X- linked recessive 		0.100 Biomarker phenotype HPO
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		0.100 Biomarker phenotype HPO
CUI: C1859236
Disease: Prolonged neonatal jaundice
Prolonged neonatal jaundice 		0.100 Biomarker phenotype HPO
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		0.100 Biomarker phenotype HPO
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		0.100 Biomarker disease HPO
CUI: C4048270
Disease: Decreased antibody level in blood
Decreased antibody level in blood 		0.100 Biomarker phenotype HPO
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		0.010 Biomarker disease BEFREE Moreover, a chronic myelogenous leukemia patient who experienced a complete remission after CD4(+) donor lymphocyte infusions also developed high-titer antibodies to ATP6S1. 11983866 2002
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 Biomarker group BEFREE Three additional vaccinated melanoma patients and three metastatic non-small cell lung carcinoma patients vaccinated with autologous GM-CSF-secreting tumor cells similarly showed a correlation between humoral responses to ATP6S1 and tumor destruction. 11983866 2002
CUI: C1704380
Disease: Distal Renal Tubular Acidosis
Distal Renal Tubular Acidosis 		0.010 GeneticVariation disease BEFREE Localization and regulation of the ATP6V0A4 (a4) vacuolar H+-ATPase subunit defective in an inherited form of distal renal tubular acidosis. 14638902 2003
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa 		0.110 GeneticVariation disease BEFREE Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. 18157129 2008
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: C0024301
Disease: Lymphoma, Follicular
Lymphoma, Follicular 		0.300 Biomarker disease CTD_human Recurrent mTORC1-activating RRAGC mutations in follicular lymphoma. 26691987 2016
CUI: C0079745
Disease: Lymphoma, Large-Cell, Follicular
Lymphoma, Large-Cell, Follicular 		0.300 Biomarker disease CTD_human Recurrent mTORC1-activating RRAGC mutations in follicular lymphoma. 26691987 2016
CUI: C0079758
Disease: Lymphoma, Mixed-Cell, Follicular
Lymphoma, Mixed-Cell, Follicular 		0.300 Biomarker disease CTD_human Recurrent mTORC1-activating RRAGC mutations in follicular lymphoma. 26691987 2016