DGKE, diacylglycerol kinase epsilon, 8526

N. diseases: 41; N. variants: 18
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931788
Disease: Atypical Hemolytic Uremic Syndrome
Atypical Hemolytic Uremic Syndrome 		0.700 GeneticVariation disease CLINVAR
CUI: C3554330
Disease: NEPHROTIC SYNDROME, TYPE 7
NEPHROTIC SYNDROME, TYPE 7 		0.700 CausalMutation disease CLINVAR
CUI: C3554330
Disease: NEPHROTIC SYNDROME, TYPE 7
NEPHROTIC SYNDROME, TYPE 7 		0.700 Biomarker disease CTD_human
CUI: C3554330
Disease: NEPHROTIC SYNDROME, TYPE 7
NEPHROTIC SYNDROME, TYPE 7 		0.700 GeneticVariation disease CLINVAR
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.300 GeneticVariation disease UNIPROT
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome 		0.110 Biomarker group HPO
CUI: C0002879
Disease: Anemia, Hemolytic, Acquired
Anemia, Hemolytic, Acquired 		0.100 CausalMutation disease CLINVAR
CUI: C0017658
Disease: Glomerulonephritis
Glomerulonephritis 		0.100 Biomarker disease HPO
CUI: C0033687
Disease: Proteinuria
Proteinuria 		0.100 Biomarker phenotype HPO
CUI: C0033687
Disease: Proteinuria
Proteinuria 		0.100 CausalMutation phenotype CLINVAR
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.100 CausalMutation phenotype CLINVAR
CUI: C0445347
Disease: Thickening of glomerular basement membrane
Thickening of glomerular basement membrane 		0.100 Biomarker phenotype HPO
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		0.100 CausalMutation disease CLINVAR
CUI: C2609414
Disease: Acute kidney injury
Acute kidney injury 		0.100 Biomarker disease HPO
CUI: C2609414
Disease: Acute kidney injury
Acute kidney injury 		0.100 CausalMutation disease CLINVAR
CUI: C3808620
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7 		0.100 SusceptibilityMutation phenotype CLINVAR
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.010 Biomarker disease BEFREE Characterization of the human diacylglycerol kinase epsilon gene and its assessment as a candidate for inherited retinitis pigmentosa. 10571048 1999
CUI: C0036572
Disease: Seizures
Seizures 		0.010 Biomarker phenotype BEFREE Diacylglycerol kinase epsilon regulates seizure susceptibility and long-term potentiation through arachidonoyl- inositol lipid signaling. 11287665 2001
CUI: C0342782
Disease: Depletion of mitochondrial DNA
Depletion of mitochondrial DNA 		0.020 GeneticVariation disease BEFREE Mitochondrial DNA depletion and dGK gene mutations. 12205643 2002
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		0.010 GeneticVariation disease BEFREE Molecular analysis of the dGK gene should be performed in infants with cirrhosis even in the absence of CNS involvement. 15150663 2004
CUI: C0686377
Disease: CNS metastases
CNS metastases 		0.010 Biomarker phenotype BEFREE Molecular analysis of the dGK gene should be performed in infants with cirrhosis even in the absence of CNS involvement. 15150663 2004
CUI: C1623038
Disease: Cirrhosis
Cirrhosis 		0.010 GeneticVariation disease BEFREE Molecular analysis of the dGK gene should be performed in infants with cirrhosis even in the absence of CNS involvement. 15150663 2004
CUI: C0342782
Disease: Depletion of mitochondrial DNA
Depletion of mitochondrial DNA 		0.020 GeneticVariation disease BEFREE New DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome. 15883261 2005
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		0.010 AlteredExpression disease BEFREE Together, these findings indicate that increased levels of kinase DGKε contribute to HD pathogenesis and suggest that reducing its levels or activity is a potential therapy for HD. 22511757 2012
CUI: C2931788
Disease: Atypical Hemolytic Uremic Syndrome
Atypical Hemolytic Uremic Syndrome 		0.700 GeneticVariation disease BEFREE A new study reports that recessive loss-of-function mutations in the gene encoding diacylglycerol kinase ε result in atypical hemolytic-uremic syndrome. 23619787 2013