2.3.1.51 1-acylglycerol-3-phosphate o-acyltransferase deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=14708602&form=6&db=m Truncation of CGI-58 protein causes malformation of lamellar granules resulting in ichthyosis in Dorfman-Chanarin syndrome. causal interaction,unassigned 4,0 2.3.1.51 1-acylglycerol-3-phosphate o-acyltransferase deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=19187773&form=6&db=m Molecular mechanisms of hepatic steatosis and insulin resistance in the AGPAT2-deficient mouse model of congenital generalized lipodystrophy. causal interaction,unassigned 4,0 2.3.1.51 1-acylglycerol-3-phosphate o-acyltransferase deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=19494770&form=6&db=m Inherited lipodystrophies and hypertriglyceridemia. causal interaction,therapeutic application,unassigned 4,1,0 2.3.1.51 1-acylglycerol-3-phosphate o-acyltransferase deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=21051554&form=6&db=m Pathology of Congenital Generalized Lipodystrophy in Agpat2 -/-Mice. causal interaction,unassigned 2,0 2.3.1.51 1-acylglycerol-3-phosphate o-acyltransferase deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=25482557&form=6&db=m Loss of abhd5 promotes colorectal tumor development and progression by inducing aerobic glycolysis and epithelial-mesenchymal transition. causal interaction,ongoing research,unassigned 3,2,0 2.3.1.51 1-acylglycerol-3-phosphate o-acyltransferase deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=26417690&form=6&db=m AGPAT2 deficiency impairs adipogenic differentiation in primary cultured preadipocytes in a non-autophagy or apoptosis dependent mechanism. causal interaction,unassigned 3,0 2.3.1.51 1-acylglycerol-3-phosphate o-acyltransferase deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=27559856&form=6&db=m ABHD5 interacts with BECN1 to regulate autophagy and tumorigenesis of colon cancer independent of PNPLA2. causal interaction,ongoing research,therapeutic application,unassigned 3,2,1,0 2.3.1.51 1-acylglycerol-3-phosphate o-acyltransferase deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=30842415&form=6&db=m ABHD5 blunts the sensitivity of colorectal cancer to fluorouracil via promoting autophagic uracil yield. unassigned - 2.3.1.51 1-acylglycerol-3-phosphate o-acyltransferase deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=31439546&form=6&db=m Macrophage ABHD5 suppresses NF-?B-dependent matrix metalloproteinase expression and cancer metastasis. causal interaction,diagnostic usage,ongoing research,therapeutic application 3,3,4,1 2.3.1.51 1-acylglycerol-3-phosphate o-acyltransferase deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=32810486&form=6&db=m Absence of AGPAT2 impairs brown adipogenesis, increases IFN stimulated gene expression and alters mitochondrial morphology. causal interaction,diagnostic usage,ongoing research,unassigned 2,3,3,0 2.3.1.51 1-acylglycerol-3-phosphate o-acyltransferase deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=32867817&form=6&db=m Cancer-derived exosomal TRIM59 regulates macrophage NLRP3 inflammasome activation to promote lung cancer progression. causal interaction,unassigned 3,0 2.3.1.51 Adenomatous Polyps http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=25482557&form=6&db=m Loss of abhd5 promotes colorectal tumor development and progression by inducing aerobic glycolysis and epithelial-mesenchymal transition. causal interaction,ongoing research,unassigned 3,2,0 2.3.1.51 Carcinogenesis http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=25482557&form=6&db=m Loss of abhd5 promotes colorectal tumor development and progression by inducing aerobic glycolysis and epithelial-mesenchymal transition. causal interaction,ongoing research,unassigned 3,2,0 2.3.1.51 Carcinogenesis http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=27559856&form=6&db=m ABHD5 interacts with BECN1 to regulate autophagy and tumorigenesis of colon cancer independent of PNPLA2. causal interaction,ongoing research,therapeutic application,unassigned 3,2,1,0 2.3.1.51 Carcinoma http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=9575575&form=6&db=m Interaction of lipopolysaccharide with a mammalian lyso-phosphatidate acyltransferase (LPAAT) transfected into E. coli, and effect of lisofylline on LPAAT transfected into mammalian cells. causal interaction,ongoing research,unassigned 4,2,0 2.3.1.51 Carcinoma http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=15841084&form=6&db=m Expression of lysophosphatidic acid acyltransferase beta (LPAAT-beta) in ovarian carcinoma: correlation with tumour grading and prognosis. causal interaction,diagnostic usage,ongoing research,therapeutic application 4,4,4,1 2.3.1.51 Carcinoma http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16944535&form=6&db=m Lysophosphatidic acid acyltransferase-beta (LPAAT-beta) is highly expressed in advanced ovarian cancer and is associated with aggressive histology and poor survival. causal interaction,diagnostic usage,ongoing research,unassigned 4,4,4,0 2.3.1.51 Carcinoma http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=23557589&form=6&db=m Lipid synthesis and processing proteins ABHD5, PGRMC1 and squalene synthase can serve as novel immunohistochemical markers for sebaceous neoplasms and differentiate sebaceous carcinoma from sebaceoma and basal cell carcinoma with clear cell features. diagnostic usage,ongoing research,unassigned 3,1,0 2.3.1.51 Carcinoma, Basal Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=23557589&form=6&db=m Lipid synthesis and processing proteins ABHD5, PGRMC1 and squalene synthase can serve as novel immunohistochemical markers for sebaceous neoplasms and differentiate sebaceous carcinoma from sebaceoma and basal cell carcinoma with clear cell features. diagnostic usage,ongoing research,unassigned 3,1,0 2.3.1.51 Cardiomyopathies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=25300978&form=6&db=m Inborn errors of cytoplasmic triglyceride metabolism. unassigned - 2.3.1.51 Cardiovascular Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=32280377&form=6&db=m Leu124Serfs*26, a novel AGPAT2 mutation in congenital generalized lipodystrophy with early cardiovascular complications. causal interaction,therapeutic application,unassigned 4,1,0 2.3.1.51 carnitine o-palmitoyltransferase deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=20370797&form=6&db=m High frequency of ETFDH c.250G>A mutation in Taiwanese patients with late-onset lipid storage myopathy. causal interaction,unassigned 3,0 2.3.1.51 Colonic Neoplasms http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=25482557&form=6&db=m Loss of abhd5 promotes colorectal tumor development and progression by inducing aerobic glycolysis and epithelial-mesenchymal transition. causal interaction,ongoing research,unassigned 3,2,0 2.3.1.51 Colonic Neoplasms http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=25749516&form=6&db=m ColoLipidGene: signature of lipid metabolism-related genes to predict prognosis in stage-II colon cancer patients. diagnostic usage,therapeutic application,unassigned 2,1,0 2.3.1.51 Colonic Neoplasms http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=27559856&form=6&db=m ABHD5 interacts with BECN1 to regulate autophagy and tumorigenesis of colon cancer independent of PNPLA2. causal interaction,ongoing research,therapeutic application,unassigned 3,2,1,0 2.3.1.51 Colorectal Neoplasms http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=20363836&form=6&db=m Enzymatic activity of the human 1-acylglycerol-3-phosphate-O-acyltransferase isoform 11 (AGPAT11): upregulated in breast and cervical cancers. causal interaction,diagnostic usage,ongoing research,unassigned 3,3,4,0 2.3.1.51 Colorectal Neoplasms http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=25482557&form=6&db=m Loss of abhd5 promotes colorectal tumor development and progression by inducing aerobic glycolysis and epithelial-mesenchymal transition. causal interaction,ongoing research,unassigned 3,2,0 2.3.1.51 Colorectal Neoplasms http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=27189574&form=6&db=m Macrophage ABHD5 promotes colorectal cancer growth by suppressing spermidine production by SRM. unassigned - 2.3.1.51 Colorectal Neoplasms http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=27559856&form=6&db=m ABHD5 interacts with BECN1 to regulate autophagy and tumorigenesis of colon cancer independent of PNPLA2. causal interaction,ongoing research,therapeutic application,unassigned 3,2,1,0 2.3.1.51 Colorectal Neoplasms http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=30184511&form=6&db=m Loss of Abhd5 Promotes Colorectal Tumor Development and Progression by Inducing Aerobic Glycolysis and Epithelial-Mesenchymal Transition. unassigned - 2.3.1.51 Colorectal Neoplasms http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=30842415&form=6&db=m ABHD5 blunts the sensitivity of colorectal cancer to fluorouracil via promoting autophagic uracil yield. unassigned - 2.3.1.51 Colorectal Neoplasms http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=31439546&form=6&db=m Macrophage ABHD5 suppresses NF-?B-dependent matrix metalloproteinase expression and cancer metastasis. causal interaction,diagnostic usage,ongoing research,therapeutic application 3,3,4,1 2.3.1.51 Coronary Artery Disease http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=22359512&form=6&db=m Genome-Wide Association Study Identifies Novel Loci Associated with Circulating Phospho- and Sphingolipid Concentrations. unassigned - 2.3.1.51 Dermatitis, Exfoliative http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=24628803&form=6&db=m Early onset of Chanarin-Dorfman syndrome with severe liver involvement in a patient with a complex rearrangement of ABHD5 promoter. causal interaction,unassigned 3,0 2.3.1.51 Dermatitis, Exfoliative http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=26353074&form=6&db=m Chanarin Dorfman syndrome: a case report with novel nonsense mutation. therapeutic application,unassigned 2,0 2.3.1.51 Diabetes Mellitus http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=24293639&form=6&db=m Leptin ameliorates insulin resistance and hepatic steatosis in Agpat2-/- lipodystrophic mice independent of hepatocyte leptin receptors. causal interaction,unassigned 1,0 2.3.1.51 Diabetes Mellitus, Type 2 http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=22359512&form=6&db=m Genome-Wide Association Study Identifies Novel Loci Associated with Circulating Phospho- and Sphingolipid Concentrations. unassigned - 2.3.1.51 Diabetes, Gestational http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=32046372&form=6&db=m Downregulated ABHD5 Aggravates Insulin Resistance of Trophoblast Cells During Gestational Diabetes Mellitus. causal interaction,ongoing research,therapeutic application,unassigned 3,3,1,0 2.3.1.51 Dyslipidemias http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=30954460&form=6&db=m Inherited non-alcoholic fatty liver disease and dyslipidemia due to monoallelic ABHD5 mutations. causal interaction,diagnostic usage,ongoing research,unassigned 3,3,1,0 2.3.1.51 Embryo Loss http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=14976237&form=6&db=m Plastid lysophosphatidyl acyltransferase is essential for embryo development in Arabidopsis. unassigned - 2.3.1.51 Endometrial Neoplasms http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16230405&form=6&db=m Lysophosphatidic acid acyltransferase-beta is a prognostic marker and therapeutic target in gynecologic malignancies. causal interaction,diagnostic usage,ongoing research,therapeutic application 4,4,3,4 2.3.1.51 Endometrial Neoplasms http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=30936746&form=6&db=m Oncogenic role of ABHD5 in endometrial cancer. causal interaction,diagnostic usage,ongoing research,therapeutic application 4,4,4,3 2.3.1.51 Exfoliation Syndrome http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=31687947&form=6&db=m NEW GENETIC MARKERS ASSOCIATED WITH SUSCEPTIBILITY TO EXFOLIATION SYNDROME AMONG GEORGIAN POPULATION. ongoing research,unassigned 2,0 2.3.1.51 Exfoliation Syndrome http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=33396423&form=6&db=m Molecular Genetics of Glaucoma: Subtype and Ethnicity Considerations. causal interaction,unassigned 3,0 2.3.1.51 Fatty Liver http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=15127008&form=6&db=m Steatohepatitis and unsuspected micronodular cirrhosis in Dorfman-Chanarin syndrome with documented ABHD5 mutation. causal interaction,unassigned 4,0 2.3.1.51 Fatty Liver http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=24628803&form=6&db=m Early onset of Chanarin-Dorfman syndrome with severe liver involvement in a patient with a complex rearrangement of ABHD5 promoter. causal interaction,unassigned 3,0 2.3.1.51 Fatty Liver http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=30954460&form=6&db=m Inherited non-alcoholic fatty liver disease and dyslipidemia due to monoallelic ABHD5 mutations. causal interaction,diagnostic usage,ongoing research,unassigned 3,3,1,0 2.3.1.51 Fatty Liver http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=31497752&form=6&db=m Dynamic interactions of ABHD5 with PNPLA3 regulate triacylglycerol metabolism in brown adipocytes. therapeutic application,unassigned 4,0 2.3.1.51 Fatty Liver http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=32107051&form=6&db=m Two cases of non-alcoholic fatty liver disease caused by biallelic ABHD5 mutations. causal interaction,diagnostic usage,therapeutic application,unassigned 4,2,1,0 2.3.1.51 Genetic Diseases, Inborn http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=19401457&form=6&db=m Neutral lipid storage disease: genetic disorders caused by mutations in adipose triglyceride lipase/PNPLA2 or CGI-58/ABHD5. causal interaction,unassigned 3,0 2.3.1.51 Genetic Diseases, Inborn http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=29965897&form=6&db=m Genetics of Exfoliation Syndrome. causal interaction,unassigned 2,0 2.3.1.51 Glucose Metabolism Disorders http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=32046372&form=6&db=m Downregulated ABHD5 Aggravates Insulin Resistance of Trophoblast Cells During Gestational Diabetes Mellitus. causal interaction,ongoing research,therapeutic application,unassigned 3,3,1,0 2.3.1.51 Heart Failure http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=31742248&form=6&db=m The lipid droplet-associated protein ABHD5 protects the heart through proteolysis of HDAC4. ongoing research,unassigned 2,0 2.3.1.51 Hematologic Neoplasms http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=18718103&form=6&db=m [Relationship between Lysophosphatide Acid Acyltransferase beta and Tumor - Review.] causal interaction,therapeutic application,unassigned 4,2,0 2.3.1.51 Hepatitis C http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=32542055&form=6&db=m The ATGL lipase cooperates with ABHD5 to mobilize lipids for hepatitis C virus assembly. causal interaction,therapeutic application,unassigned 1,1,0 2.3.1.51 Hepatomegaly http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=17187067&form=6&db=m The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy. causal interaction,unassigned 3,0 2.3.1.51 Hepatomegaly http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=24628803&form=6&db=m Early onset of Chanarin-Dorfman syndrome with severe liver involvement in a patient with a complex rearrangement of ABHD5 promoter. causal interaction,unassigned 3,0 2.3.1.51 Hyperlipidemias http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=31883530&form=6&db=m A novel mutation of ABHD5 gene in a Chanarin Dorfman patient with unusual dermatological findings. causal interaction,diagnostic usage,therapeutic application,unassigned 3,3,1,0 2.3.1.51 Hypertriglyceridemia http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=25300978&form=6&db=m Inborn errors of cytoplasmic triglyceride metabolism. unassigned - 2.3.1.51 Ichthyosiform Erythroderma, Congenital http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=24628803&form=6&db=m Early onset of Chanarin-Dorfman syndrome with severe liver involvement in a patient with a complex rearrangement of ABHD5 promoter. causal interaction,unassigned 3,0 2.3.1.51 Ichthyosis http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=14708602&form=6&db=m Truncation of CGI-58 protein causes malformation of lamellar granules resulting in ichthyosis in Dorfman-Chanarin syndrome. causal interaction,unassigned 4,0 2.3.1.51 Ichthyosis http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=15127008&form=6&db=m Steatohepatitis and unsuspected micronodular cirrhosis in Dorfman-Chanarin syndrome with documented ABHD5 mutation. causal interaction,unassigned 4,0 2.3.1.51 Ichthyosis http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=17187067&form=6&db=m The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy. causal interaction,unassigned 3,0 2.3.1.51 Ichthyosis http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=17631826&form=6&db=m [Neutral lipid storage diseases and ATGL (adipose triglyceride lipase) and CGI-58/ABHD5 (alpha-beta hydrolase domain-containing 5) deficiency: myopathy, ichthyosis, but no obesity] causal interaction,unassigned 2,0 2.3.1.51 Ichthyosis http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=19208393&form=6&db=m Clinical and genetic analysis of lipid storage myopathies. causal interaction,unassigned 3,0 2.3.1.51 Ichthyosis http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=20370797&form=6&db=m High frequency of ETFDH c.250G>A mutation in Taiwanese patients with late-onset lipid storage myopathy. causal interaction,unassigned 3,0 2.3.1.51 Ichthyosis http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=25300978&form=6&db=m Inborn errors of cytoplasmic triglyceride metabolism. unassigned - 2.3.1.51 Ichthyosis http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=30361410&form=6&db=m ABHD5 stimulates PNPLA1-mediated ?-O-acylceramide biosynthesis essential for a functional skin permeability barrier. unassigned - 2.3.1.51 Ichthyosis http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=30527376&form=6&db=m Molecular mechanism of the ichthyosis pathology of Chanarin-Dorfman syndrome: Stimulation of PNPLA1-catalyzed ?-O-acylceramide production by ABHD5. ongoing research,unassigned 2,0 2.3.1.51 Ichthyosis http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=33985321&form=6&db=m Recurrent N209* ABHD5 mutation in two unreported families with Chanarin Dorfman Syndrome. causal interaction,unassigned 3,0 2.3.1.51 Infections http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=31815960&form=6&db=m Dengue virus reduces AGPAT1 expression to alter phospholipids and enhance infection in Aedes aegypti. causal interaction,ongoing research,therapeutic application,unassigned 4,1,1,0 2.3.1.51 Insulin Resistance http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=14516935&form=6&db=m Monogenic forms of insulin resistance: apertures that expose the common metabolic syndrome. causal interaction,unassigned 4,0 2.3.1.51 Insulin Resistance http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=15908053&form=6&db=m [Monogenic severe insulin resistance syndromes] causal interaction,unassigned 3,0 2.3.1.51 Insulin Resistance http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16246048&form=6&db=m Diseases of adipose tissue: genetic and acquired lipodystrophies. causal interaction,therapeutic application,unassigned 1,1,0 2.3.1.51 Insulin Resistance http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=21873652&form=6&db=m Human AGPAT isoforms 1 and 2: Biochemical characterization and their inability to rescue hepatic steatosis in Agpat2-/- lipodystrophic mice. causal interaction,unassigned 3,0 2.3.1.51 Insulin Resistance http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=22748602&form=6&db=m How to diagnose a lipodystrophy syndrome. causal interaction,unassigned 3,0 2.3.1.51 Insulin Resistance http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=22872237&form=6&db=m Alterations in Lipid Signaling Underlie Lipodystrophy Secondary to AGPAT2 Mutations. unassigned - 2.3.1.51 Insulin Resistance http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=23337016&form=6&db=m AGPAT2 gene mutation in a child with Berardinelli-Seip congenital lipodystrophy syndrome. causal interaction,unassigned 4,0 2.3.1.51 Insulin Resistance http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=24293639&form=6&db=m Leptin ameliorates insulin resistance and hepatic steatosis in Agpat2-/- lipodystrophic mice independent of hepatocyte leptin receptors. causal interaction,unassigned 1,0 2.3.1.51 Insulin Resistance http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=24425876&form=6&db=m Hepatic gluconeogenesis is enhanced by phosphatidic acid which remains uninhibited by insulin in lipodystrophic Agpat2-/- mice. ongoing research,unassigned 4,0 2.3.1.51 Insulin Resistance http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=26417690&form=6&db=m AGPAT2 deficiency impairs adipogenic differentiation in primary cultured preadipocytes in a non-autophagy or apoptosis dependent mechanism. causal interaction,unassigned 3,0 2.3.1.51 Insulin Resistance http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=32046372&form=6&db=m Downregulated ABHD5 Aggravates Insulin Resistance of Trophoblast Cells During Gestational Diabetes Mellitus. causal interaction,ongoing research,therapeutic application,unassigned 3,3,1,0 2.3.1.51 Intellectual Disability http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=15181077&form=6&db=m Mutations in Gng3lg and AGPAT2 in Berardinelli-Seip congenital lipodystrophy and Brunzell syndrome: phenotype variability suggests important modifier effects. causal interaction,unassigned 4,0 2.3.1.51 Intellectual Disability http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=24996587&form=6&db=m Dorfman-Chanarin syndrome without mental retardation caused by a homozygous ABHD5 splice site mutation that skips exon 6. causal interaction,unassigned 2,0 2.3.1.51 Leukemia http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16488473&form=6&db=m Effect of lysophosphatidic acid acyltransferase-beta inhibition in acute leukemia. causal interaction,therapeutic application,unassigned 4,4,0 2.3.1.51 Leukemia http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=17085669&form=6&db=m Antileukemic activity of lysophosphatidic acid acyltransferase-beta inhibitor CT32228 in chronic myelogenous leukemia sensitive and resistant to imatinib. causal interaction,ongoing research,therapeutic application,unassigned 4,4,4,0 2.3.1.51 Leukemia http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=21176343&form=6&db=m [Lysophosphatidic acid acyltransferase ? gene expression in newly diagnosed leukemia patients]. causal interaction,diagnostic usage,ongoing research,unassigned 4,4,4,0 2.3.1.51 Leukemia, Myelogenous, Chronic, BCR-ABL Positive http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=17085669&form=6&db=m Antileukemic activity of lysophosphatidic acid acyltransferase-beta inhibitor CT32228 in chronic myelogenous leukemia sensitive and resistant to imatinib. causal interaction,ongoing research,therapeutic application,unassigned 4,4,4,0 2.3.1.51 Leukemia, Myelogenous, Chronic, BCR-ABL Positive http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=21176343&form=6&db=m [Lysophosphatidic acid acyltransferase ? gene expression in newly diagnosed leukemia patients]. causal interaction,diagnostic usage,ongoing research,unassigned 4,4,4,0 2.3.1.51 Leukemia, Myeloid, Acute http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=21176343&form=6&db=m [Lysophosphatidic acid acyltransferase ? gene expression in newly diagnosed leukemia patients]. causal interaction,diagnostic usage,ongoing research,unassigned 4,4,4,0 2.3.1.51 Leukemia, Promyelocytic, Acute http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=21176343&form=6&db=m [Lysophosphatidic acid acyltransferase ? gene expression in newly diagnosed leukemia patients]. causal interaction,diagnostic usage,ongoing research,unassigned 4,4,4,0 2.3.1.51 Lipodystrophy http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=12765973&form=6&db=m Prevalence of mutations in AGPAT2 among human lipodystrophies. causal interaction,ongoing research,unassigned 2,3,0 2.3.1.51 Lipodystrophy http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=12826327&form=6&db=m Congenital generalized lipodystrophy: significance of triglyceride biosynthetic pathways. causal interaction,unassigned 4,0 2.3.1.51 Lipodystrophy http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=14516935&form=6&db=m Monogenic forms of insulin resistance: apertures that expose the common metabolic syndrome. causal interaction,unassigned 4,0 2.3.1.51 Lipodystrophy http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=14557463&form=6&db=m Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy. causal interaction,unassigned 1,0 2.3.1.51 Lipodystrophy http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=14557833&form=6&db=m Genetic basis of congenital generalized lipodystrophy. causal interaction,unassigned 3,0 2.3.1.51 Lipodystrophy http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=14715872&form=6&db=m Mutations in the seipin and AGPAT2 genes clustering in consanguineous families with Berardinelli-Seip congenital lipodystrophy from two separate geographical regions of Brazil. unassigned - 2.3.1.51 Lipodystrophy http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=15181077&form=6&db=m Mutations in Gng3lg and AGPAT2 in Berardinelli-Seip congenital lipodystrophy and Brunzell syndrome: phenotype variability suggests important modifier effects. causal interaction,unassigned 4,0 2.3.1.51 Lipodystrophy http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16435205&form=6&db=m Phenotypic heterogeneity in biochemical parameters correlates with mutations in AGPAT2 or Seipin genes among Berardinelli-Seip congenital lipodystrophy patients. causal interaction,unassigned 3,0 2.3.1.51 Lipodystrophy http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16495223&form=6&db=m A regulatory role for 1-acylglycerol-3-phosphate-O-acyltransferase 2 in adipocyte differentiation. causal interaction,ongoing research,unassigned 4,3,0 2.3.1.51 Lipodystrophy http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16722806&form=6&db=m Genetic disorders of adipose tissue development, differentiation, and death. causal interaction,unassigned 2,0 2.3.1.51 Lipodystrophy http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=18057387&form=6&db=m Novel BSCL2 gene mutation E189X in Chinese congenital generalized lipodystrophy child with early onset diabetes mellitus. ongoing research,unassigned 2,0 2.3.1.51 Lipodystrophy http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=19162222&form=6&db=m Lipodystrophies: Disorders of adipose tissue biology. causal interaction,therapeutic application,unassigned 2,1,0 2.3.1.51 Lipodystrophy http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=19494770&form=6&db=m Inherited lipodystrophies and hypertriglyceridemia. causal interaction,therapeutic application,unassigned 4,1,0 2.3.1.51 Lipodystrophy http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=19727665&form=6&db=m Efficacy of leptin therapy in the different forms of human lipodystrophy. diagnostic usage,ongoing research,unassigned 1,1,0 2.3.1.51 Lipodystrophy http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=20097706&form=6&db=m Higher adiponectin levels in patients with Berardinelli-Seip congenital lipodystrophy due to seipin as compared with 1-acylglycerol-3-phosphate-o-acyltransferase-2 deficiency. causal interaction,diagnostic usage,ongoing research,unassigned 3,4,3,0 2.3.1.51 Lipodystrophy http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=21051554&form=6&db=m Pathology of Congenital Generalized Lipodystrophy in Agpat2 -/-Mice. causal interaction,unassigned 2,0 2.3.1.51 Lipodystrophy http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=22872237&form=6&db=m Alterations in Lipid Signaling Underlie Lipodystrophy Secondary to AGPAT2 Mutations. unassigned - 2.3.1.51 Lipodystrophy http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=23337016&form=6&db=m AGPAT2 gene mutation in a child with Berardinelli-Seip congenital lipodystrophy syndrome. causal interaction,unassigned 4,0 2.3.1.51 Lipodystrophy http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=23430550&form=6&db=m Identification and Characterisation of a Novel Pathogenic Mutation in the Human Lipodystrophy Gene AGPAT2 : C48R: A Novel Mutation in AGPAT2. causal interaction,ongoing research,unassigned 2,2,0 2.3.1.51 Lipodystrophy http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=23647707&form=6&db=m Early infantile cardiomyopathy and liver disease: a multisystemic disorder caused by congenital lipodystrophy. causal interaction,diagnostic usage,unassigned 1,1,0 2.3.1.51 Lipodystrophy http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=24152769&form=6&db=m Exploring the pathophysiology behind the more common genetic and acquired lipodystrophies. causal interaction,therapeutic application,unassigned 3,4,0 2.3.1.51 Lipodystrophy http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=26176221&form=6&db=m A Frame-Shift Mutation in CAV1 Is Associated with a Severe Neonatal Progeroid and Lipodystrophy Syndrome. unassigned - 2.3.1.51 Lipodystrophy http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=26417690&form=6&db=m AGPAT2 deficiency impairs adipogenic differentiation in primary cultured preadipocytes in a non-autophagy or apoptosis dependent mechanism. causal interaction,unassigned 3,0 2.3.1.51 Lipodystrophy http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=26573975&form=6&db=m Case report: Dental management of Berardinelli-Seip congenital lipodystrophy. causal interaction,unassigned 3,0 2.3.1.51 Lipodystrophy http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=27408775&form=6&db=m AGPAT2 is essential for postnatal development and maintenance of white and brown adipose tissue. causal interaction,ongoing research,unassigned 4,3,0 2.3.1.51 Lipodystrophy http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=28597290&form=6&db=m Erratum to: Identification and Characterisation of a Novel Pathogenic Mutation in the Human Lipodystrophy Gene AGPAT2 : C48R: A Novel Mutation in AGPAT2. causal interaction,ongoing research,unassigned 2,2,0 2.3.1.51 Lipodystrophy http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=30319454&form=6&db=m A Single Complex Agpat2 Allele in a Patient With Partial Lipodystrophy. causal interaction,diagnostic usage,ongoing research,unassigned 4,1,1,0 2.3.1.51 Lipodystrophy http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=30940487&form=6&db=m Discovering metabolic disease gene interactions by correlated effects on cellular morphology. therapeutic application,unassigned 1,0 2.3.1.51 Lipodystrophy http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=32094408&form=6&db=m Oligomers of the lipodystrophy protein seipin may co-ordinate GPAT3 and AGPAT2 enzymes to facilitate adipocyte differentiation. causal interaction,unassigned 3,0 2.3.1.51 Lipodystrophy, Congenital Generalized http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=11967537&form=6&db=m AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34. causal interaction,unassigned 4,0 2.3.1.51 Lipodystrophy, Congenital Generalized http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=14516935&form=6&db=m Monogenic forms of insulin resistance: apertures that expose the common metabolic syndrome. causal interaction,unassigned 4,0 2.3.1.51 Lipodystrophy, Congenital Generalized http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=14557463&form=6&db=m Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy. causal interaction,unassigned 1,0 2.3.1.51 Lipodystrophy, Congenital Generalized http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=14557833&form=6&db=m Genetic basis of congenital generalized lipodystrophy. causal interaction,unassigned 3,0 2.3.1.51 Lipodystrophy, Congenital Generalized http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=14602785&form=6&db=m Phenotypic heterogeneity in body fat distribution in patients with congenital generalized lipodystrophy caused by mutations in the AGPAT2 or seipin genes. causal interaction,ongoing research,unassigned 4,1,0 2.3.1.51 Lipodystrophy, Congenital Generalized http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=14715872&form=6&db=m Mutations in the seipin and AGPAT2 genes clustering in consanguineous families with Berardinelli-Seip congenital lipodystrophy from two separate geographical regions of Brazil. unassigned - 2.3.1.51 Lipodystrophy, Congenital Generalized http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=15181077&form=6&db=m Mutations in Gng3lg and AGPAT2 in Berardinelli-Seip congenital lipodystrophy and Brunzell syndrome: phenotype variability suggests important modifier effects. causal interaction,unassigned 4,0 2.3.1.51 Lipodystrophy, Congenital Generalized http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=15629135&form=6&db=m Enzymatic activity of naturally occurring 1-acylglycerol-3-phosphate-O-acyltransferase 2 mutants associated with congenital generalized lipodystrophy. causal interaction,therapeutic application,unassigned 4,1,0 2.3.1.51 Lipodystrophy, Congenital Generalized http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16246048&form=6&db=m Diseases of adipose tissue: genetic and acquired lipodystrophies. causal interaction,therapeutic application,unassigned 1,1,0 2.3.1.51 Lipodystrophy, Congenital Generalized http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16435205&form=6&db=m Phenotypic heterogeneity in biochemical parameters correlates with mutations in AGPAT2 or Seipin genes among Berardinelli-Seip congenital lipodystrophy patients. causal interaction,unassigned 3,0 2.3.1.51 Lipodystrophy, Congenital Generalized http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16495223&form=6&db=m A regulatory role for 1-acylglycerol-3-phosphate-O-acyltransferase 2 in adipocyte differentiation. causal interaction,ongoing research,unassigned 4,3,0 2.3.1.51 Lipodystrophy, Congenital Generalized http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=17320032&form=6&db=m [Primary lipodystrophies] causal interaction,unassigned 4,0 2.3.1.51 Lipodystrophy, Congenital Generalized http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=18057387&form=6&db=m Novel BSCL2 gene mutation E189X in Chinese congenital generalized lipodystrophy child with early onset diabetes mellitus. ongoing research,unassigned 2,0 2.3.1.51 Lipodystrophy, Congenital Generalized http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=19162222&form=6&db=m Lipodystrophies: Disorders of adipose tissue biology. causal interaction,therapeutic application,unassigned 2,1,0 2.3.1.51 Lipodystrophy, Congenital Generalized http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=19187773&form=6&db=m Molecular mechanisms of hepatic steatosis and insulin resistance in the AGPAT2-deficient mouse model of congenital generalized lipodystrophy. causal interaction,unassigned 4,0 2.3.1.51 Lipodystrophy, Congenital Generalized http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=19226263&form=6&db=m Novel mutations of the BSCL2 and AGPAT2 genes in ten families with Berardinelli-Seip congenital generalized lipodystrophy syndrome. causal interaction,unassigned 3,0 2.3.1.51 Lipodystrophy, Congenital Generalized http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=19494770&form=6&db=m Inherited lipodystrophies and hypertriglyceridemia. causal interaction,therapeutic application,unassigned 4,1,0 2.3.1.51 Lipodystrophy, Congenital Generalized http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=21051554&form=6&db=m Pathology of Congenital Generalized Lipodystrophy in Agpat2 -/-Mice. causal interaction,unassigned 2,0 2.3.1.51 Lipodystrophy, Congenital Generalized http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=21744063&form=6&db=m Description of an AGPAT2 pathologic allelic variant in a 54-year-old Caucasian woman with Berardinelli-Seip syndrome. diagnostic usage,unassigned 3,0 2.3.1.51 Lipodystrophy, Congenital Generalized http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=21865368&form=6&db=m Lipodystrophies: Genetic and Acquired Body Fat Disorders. causal interaction,therapeutic application,unassigned 2,3,0 2.3.1.51 Lipodystrophy, Congenital Generalized http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=22872237&form=6&db=m Alterations in Lipid Signaling Underlie Lipodystrophy Secondary to AGPAT2 Mutations. unassigned - 2.3.1.51 Lipodystrophy, Congenital Generalized http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=22902344&form=6&db=m Identification of a novel nonsense mutation and a missense substitution in the AGPAT2 gene causing congenital generalized lipodystrophy type 1. causal interaction,unassigned 3,0 2.3.1.51 Lipodystrophy, Congenital Generalized http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=23337016&form=6&db=m AGPAT2 gene mutation in a child with Berardinelli-Seip congenital lipodystrophy syndrome. causal interaction,unassigned 4,0 2.3.1.51 Lipodystrophy, Congenital Generalized http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=23430896&form=6&db=m A Patient with Congenital Generalized Lipodystrophy Due To a Novel Mutation in BSCL2: Indications for Secondary Mitochondrial Dysfunction. unassigned - 2.3.1.51 Lipodystrophy, Congenital Generalized http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=24152769&form=6&db=m Exploring the pathophysiology behind the more common genetic and acquired lipodystrophies. causal interaction,therapeutic application,unassigned 3,4,0 2.3.1.51 Lipodystrophy, Congenital Generalized http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=24293639&form=6&db=m Leptin ameliorates insulin resistance and hepatic steatosis in Agpat2-/- lipodystrophic mice independent of hepatocyte leptin receptors. causal interaction,unassigned 1,0 2.3.1.51 Lipodystrophy, Congenital Generalized http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=24498038&form=6&db=m Divergent metabolic phenotype between two sisters with congenital generalized lipodystrophy due to double AGPAT2 homozygous mutations. a clinical, genetic and in silico study. causal interaction,diagnostic usage,unassigned 2,3,0 2.3.1.51 Lipodystrophy, Congenital Generalized http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=25737955&form=6&db=m Seipin oligomers can interact directly with AGPAT2 and lipin 1, physically scaffolding critical regulators of adipogenesis. unassigned - 2.3.1.51 Lipodystrophy, Congenital Generalized http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=26573975&form=6&db=m Case report: Dental management of Berardinelli-Seip congenital lipodystrophy. causal interaction,unassigned 3,0 2.3.1.51 Lipodystrophy, Congenital Generalized http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=28973305&form=6&db=m Metabolic, Reproductive, and Neurologic Abnormalities in Agpat1-Null Mice. unassigned - 2.3.1.51 Lipodystrophy, Congenital Generalized http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=29908837&form=6&db=m Expression of AGPAT2, an enzyme involved in the glycerophospholipid/triacylglycerol biosynthesis pathway, is directly regulated by HIF-1 and promotes survival and etoposide resistance of cancer cells under hypoxia. causal interaction,diagnostic usage,therapeutic application,unassigned 4,1,1,0 2.3.1.51 Lipodystrophy, Congenital Generalized http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=30266686&form=6&db=m Further delineation of AGPAT2 and BSCL2 related congenital generalized lipodystrophy in young infants. causal interaction,unassigned 4,0 2.3.1.51 Lipodystrophy, Congenital Generalized http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=30319454&form=6&db=m A Single Complex Agpat2 Allele in a Patient With Partial Lipodystrophy. causal interaction,diagnostic usage,ongoing research,unassigned 4,1,1,0 2.3.1.51 Lipodystrophy, Congenital Generalized http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=30563316&form=6&db=m Berardinelli-Seip syndrome patient with novel AGPAT2 splicesite mutation and concomitant development of non-diabetic polyneuropathy causal interaction,unassigned 4,0 2.3.1.51 Lipodystrophy, Congenital Generalized http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=31312462&form=6&db=m Oil Red-O Positive lipid blobs on peripheral blood film examination in a muscular infant with the diagnosis of Berardinelli-Seip syndrome. causal interaction,ongoing research,therapeutic application,unassigned 4,2,1,0 2.3.1.51 Lipodystrophy, Congenital Generalized http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=32280377&form=6&db=m Leu124Serfs*26, a novel AGPAT2 mutation in congenital generalized lipodystrophy with early cardiovascular complications. causal interaction,therapeutic application,unassigned 4,1,0 2.3.1.51 Lipodystrophy, Congenital Generalized http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=32412105&form=6&db=m A rare frameshift mutation in the AGPAT2 gene in a family from gaza with congenital generalized lipodystrophy. causal interaction,ongoing research,unassigned 1,1,0 2.3.1.51 Lipodystrophy, Congenital Generalized http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=32810486&form=6&db=m Absence of AGPAT2 impairs brown adipogenesis, increases IFN stimulated gene expression and alters mitochondrial morphology. causal interaction,diagnostic usage,ongoing research,unassigned 2,3,3,0 2.3.1.51 Lipodystrophy, Congenital Generalized http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=32924125&form=6&db=m [Identification of a novel AGPAT2 variant in a Chinese patient with congenital generalized lipodystrophy type 1]. causal interaction,unassigned 1,0 2.3.1.51 Lipodystrophy, Congenital Generalized http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=33389126&form=6&db=m A novel AGPAT2 mutation associated with a case of late-diagnosed congenital generalized lipodystrophy type 1. causal interaction,unassigned 4,0 2.3.1.51 Lipodystrophy, Familial Partial http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=14516935&form=6&db=m Monogenic forms of insulin resistance: apertures that expose the common metabolic syndrome. causal interaction,unassigned 4,0 2.3.1.51 Liver Cirrhosis http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=20528790&form=6&db=m Liver cirrhosis in an infant with Chanarin-Dorfman syndrome caused by a novel splice-site mutation in ABHD5. causal interaction,unassigned 2,0 2.3.1.51 Liver Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=30954460&form=6&db=m Inherited non-alcoholic fatty liver disease and dyslipidemia due to monoallelic ABHD5 mutations. causal interaction,diagnostic usage,ongoing research,unassigned 3,3,1,0 2.3.1.51 Liver Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=31497752&form=6&db=m Dynamic interactions of ABHD5 with PNPLA3 regulate triacylglycerol metabolism in brown adipocytes. therapeutic application,unassigned 4,0 2.3.1.51 Liver Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=32107051&form=6&db=m Two cases of non-alcoholic fatty liver disease caused by biallelic ABHD5 mutations. causal interaction,diagnostic usage,therapeutic application,unassigned 4,2,1,0 2.3.1.51 Lung Neoplasms http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=32867817&form=6&db=m Cancer-derived exosomal TRIM59 regulates macrophage NLRP3 inflammasome activation to promote lung cancer progression. causal interaction,unassigned 3,0 2.3.1.51 Lymphatic Metastasis http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=30936746&form=6&db=m Oncogenic role of ABHD5 in endometrial cancer. causal interaction,diagnostic usage,ongoing research,therapeutic application 4,4,4,3 2.3.1.51 Lymphoma http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16000584&form=6&db=m Induction of apoptosis using inhibitors of lysophosphatidic acid acyltransferase-beta and anti-CD20 monoclonal antibodies for treatment of human non-Hodgkin's lymphomas. ongoing research,therapeutic application,unassigned 4,4,0 2.3.1.51 Lymphoma, Non-Hodgkin http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16000584&form=6&db=m Induction of apoptosis using inhibitors of lysophosphatidic acid acyltransferase-beta and anti-CD20 monoclonal antibodies for treatment of human non-Hodgkin's lymphomas. ongoing research,therapeutic application,unassigned 4,4,0 2.3.1.51 Marfan Syndrome http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=22748602&form=6&db=m How to diagnose a lipodystrophy syndrome. causal interaction,unassigned 3,0 2.3.1.51 Metabolic Syndrome http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=14516935&form=6&db=m Monogenic forms of insulin resistance: apertures that expose the common metabolic syndrome. causal interaction,unassigned 4,0 2.3.1.51 Multiple Myeloma http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=14679006&form=6&db=m Antitumor activity of lysophosphatidic acid acyltransferase-beta inhibitors, a novel class of agents, in multiple myeloma. ongoing research,therapeutic application,unassigned 4,1,0 2.3.1.51 Muscular Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=17187067&form=6&db=m The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy. causal interaction,unassigned 3,0 2.3.1.51 Muscular Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=17631826&form=6&db=m [Neutral lipid storage diseases and ATGL (adipose triglyceride lipase) and CGI-58/ABHD5 (alpha-beta hydrolase domain-containing 5) deficiency: myopathy, ichthyosis, but no obesity] causal interaction,unassigned 2,0 2.3.1.51 Muscular Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=19208393&form=6&db=m Clinical and genetic analysis of lipid storage myopathies. causal interaction,unassigned 3,0 2.3.1.51 Muscular Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=20370797&form=6&db=m High frequency of ETFDH c.250G>A mutation in Taiwanese patients with late-onset lipid storage myopathy. causal interaction,unassigned 3,0 2.3.1.51 Muscular Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=25300978&form=6&db=m Inborn errors of cytoplasmic triglyceride metabolism. unassigned - 2.3.1.51 Neoplasm Metastasis http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16944535&form=6&db=m Lysophosphatidic acid acyltransferase-beta (LPAAT-beta) is highly expressed in advanced ovarian cancer and is associated with aggressive histology and poor survival. causal interaction,diagnostic usage,ongoing research,unassigned 4,4,4,0 2.3.1.51 Neoplasm Metastasis http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=30936746&form=6&db=m Oncogenic role of ABHD5 in endometrial cancer. causal interaction,diagnostic usage,ongoing research,therapeutic application 4,4,4,3 2.3.1.51 Neoplasm Metastasis http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=31439546&form=6&db=m Macrophage ABHD5 suppresses NF-?B-dependent matrix metalloproteinase expression and cancer metastasis. causal interaction,diagnostic usage,ongoing research,therapeutic application 3,3,4,1 2.3.1.51 Neoplasms http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=9212163&form=6&db=m Cloning and expression of two human lysophosphatidic acid acyltransferase cDNAs that enhance cytokine-induced signaling responses in cells. causal interaction,ongoing research,unassigned 1,1,0 2.3.1.51 Neoplasms http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=11487472&form=6&db=m The structure and functions of human lysophosphatidic acid acyltransferases. causal interaction,ongoing research,unassigned 3,2,0 2.3.1.51 Neoplasms http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=14498826&form=6&db=m Lysophosphatidic acid acyltransferase-beta: a novel target for induction of tumour cell apoptosis. causal interaction,diagnostic usage,ongoing research,therapeutic application 3,3,3,4 2.3.1.51 Neoplasms http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=14578472&form=6&db=m Inhibition of lysophosphatidic acid acyltransferase beta disrupts proliferative and survival signals in normal cells and induces apoptosis of tumor cells. causal interaction,ongoing research,unassigned 4,4,0 2.3.1.51 Neoplasms http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=15841084&form=6&db=m Expression of lysophosphatidic acid acyltransferase beta (LPAAT-beta) in ovarian carcinoma: correlation with tumour grading and prognosis. causal interaction,diagnostic usage,ongoing research,therapeutic application 4,4,4,1 2.3.1.51 Neoplasms http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16230405&form=6&db=m Lysophosphatidic acid acyltransferase-beta is a prognostic marker and therapeutic target in gynecologic malignancies. causal interaction,diagnostic usage,ongoing research,therapeutic application 4,4,3,4 2.3.1.51 Neoplasms http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16488473&form=6&db=m Effect of lysophosphatidic acid acyltransferase-beta inhibition in acute leukemia. causal interaction,therapeutic application,unassigned 4,4,0 2.3.1.51 Neoplasms http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16944535&form=6&db=m Lysophosphatidic acid acyltransferase-beta (LPAAT-beta) is highly expressed in advanced ovarian cancer and is associated with aggressive histology and poor survival. causal interaction,diagnostic usage,ongoing research,unassigned 4,4,4,0 2.3.1.51 Neoplasms http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=17002884&form=6&db=m Identification of a Novel Human Lysophosphatidic Acid Acyltransferase, LPAAT-theta, Which Activates mTOR Pathway. causal interaction,unassigned 4,0 2.3.1.51 Neoplasms http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=17085669&form=6&db=m Antileukemic activity of lysophosphatidic acid acyltransferase-beta inhibitor CT32228 in chronic myelogenous leukemia sensitive and resistant to imatinib. causal interaction,ongoing research,therapeutic application,unassigned 4,4,4,0 2.3.1.51 Neoplasms http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=18718103&form=6&db=m [Relationship between Lysophosphatide Acid Acyltransferase beta and Tumor - Review.] causal interaction,therapeutic application,unassigned 4,2,0 2.3.1.51 Neoplasms http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=20363836&form=6&db=m Enzymatic activity of the human 1-acylglycerol-3-phosphate-O-acyltransferase isoform 11 (AGPAT11): upregulated in breast and cervical cancers. causal interaction,diagnostic usage,ongoing research,unassigned 3,3,4,0 2.3.1.51 Neoplasms http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=21152068&form=6&db=m Lysophosphatidic acid acyltransferase ? (LPAAT?) promotes the tumor growth of human osteosarcoma. ongoing research,unassigned 4,0 2.3.1.51 Neoplasms http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=23557589&form=6&db=m Lipid synthesis and processing proteins ABHD5, PGRMC1 and squalene synthase can serve as novel immunohistochemical markers for sebaceous neoplasms and differentiate sebaceous carcinoma from sebaceoma and basal cell carcinoma with clear cell features. diagnostic usage,ongoing research,unassigned 3,1,0 2.3.1.51 Neoplasms http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=25482557&form=6&db=m Loss of abhd5 promotes colorectal tumor development and progression by inducing aerobic glycolysis and epithelial-mesenchymal transition. causal interaction,ongoing research,unassigned 3,2,0 2.3.1.51 Neoplasms http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=27559856&form=6&db=m ABHD5 interacts with BECN1 to regulate autophagy and tumorigenesis of colon cancer independent of PNPLA2. causal interaction,ongoing research,therapeutic application,unassigned 3,2,1,0 2.3.1.51 Neoplasms http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=29026202&form=6&db=m Loss of ABHD5 promotes the aggressiveness of prostate cancer cells. causal interaction,diagnostic usage,therapeutic application,unassigned 3,3,4,0 2.3.1.51 Neoplasms http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=29908837&form=6&db=m Expression of AGPAT2, an enzyme involved in the glycerophospholipid/triacylglycerol biosynthesis pathway, is directly regulated by HIF-1 and promotes survival and etoposide resistance of cancer cells under hypoxia. causal interaction,diagnostic usage,therapeutic application,unassigned 4,1,1,0 2.3.1.51 Neoplasms http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=30936746&form=6&db=m Oncogenic role of ABHD5 in endometrial cancer. causal interaction,diagnostic usage,ongoing research,therapeutic application 4,4,4,3 2.3.1.51 Neoplasms http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=31439546&form=6&db=m Macrophage ABHD5 suppresses NF-?B-dependent matrix metalloproteinase expression and cancer metastasis. causal interaction,diagnostic usage,ongoing research,therapeutic application 3,3,4,1 2.3.1.51 Neoplasms http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=32822232&form=6&db=m Circular RNA cMras Suppresses the Progression of Lung Adenocarcinoma Through ABHD5/ATGL Axis Using NF-?B Signaling Pathway. ongoing research,unassigned 2,0 2.3.1.51 Neoplasms http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=32867817&form=6&db=m Cancer-derived exosomal TRIM59 regulates macrophage NLRP3 inflammasome activation to promote lung cancer progression. causal interaction,unassigned 3,0 2.3.1.51 Neoplasms http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=33219129&form=6&db=m ABHD5 suppresses cancer cell anabolism through lipolysis-dependent activation of the AMPK/mTORC1 pathway. causal interaction,diagnostic usage,therapeutic application,unassigned 4,4,1,0 2.3.1.51 Non-alcoholic Fatty Liver Disease http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=30954460&form=6&db=m Inherited non-alcoholic fatty liver disease and dyslipidemia due to monoallelic ABHD5 mutations. causal interaction,diagnostic usage,ongoing research,unassigned 3,3,1,0 2.3.1.51 Non-alcoholic Fatty Liver Disease http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=31883530&form=6&db=m A novel mutation of ABHD5 gene in a Chanarin Dorfman patient with unusual dermatological findings. causal interaction,diagnostic usage,therapeutic application,unassigned 3,3,1,0 2.3.1.51 Non-alcoholic Fatty Liver Disease http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=32107051&form=6&db=m Two cases of non-alcoholic fatty liver disease caused by biallelic ABHD5 mutations. causal interaction,diagnostic usage,therapeutic application,unassigned 4,2,1,0 2.3.1.51 Obesity http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=12826327&form=6&db=m Congenital generalized lipodystrophy: significance of triglyceride biosynthetic pathways. causal interaction,unassigned 4,0 2.3.1.51 Obesity http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=17631826&form=6&db=m [Neutral lipid storage diseases and ATGL (adipose triglyceride lipase) and CGI-58/ABHD5 (alpha-beta hydrolase domain-containing 5) deficiency: myopathy, ichthyosis, but no obesity] causal interaction,unassigned 2,0 2.3.1.51 Obesity http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=21885429&form=6&db=m Adipose-selective overexpression of ABHD5/CGI-58 does not increase lipolysis or protect against diet-induced obesity. ongoing research,unassigned 1,0 2.3.1.51 Obesity http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=24084163&form=6&db=m Transcriptomic and epigenetic changes in early liver steatosis associated to obesity: Effect of dietary methyl donor supplementation. unassigned - 2.3.1.51 Osteosarcoma http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=21152068&form=6&db=m Lysophosphatidic acid acyltransferase ? (LPAAT?) promotes the tumor growth of human osteosarcoma. ongoing research,unassigned 4,0 2.3.1.51 Osteosarcoma http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=23578572&form=6&db=m MicroRNA-24 inhibits osteosarcoma cell proliferation both in vitro and in vivo by targeting LPAAT?. causal interaction,unassigned 2,0 2.3.1.51 Osteosarcoma http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=28035350&form=6&db=m Silencing LPAAT? inhibits tumor growth of cisplatin-resistant human osteosarcoma in vivo and in vitro. diagnostic usage,ongoing research,unassigned 3,4,0 2.3.1.51 Ovarian Neoplasms http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=15841084&form=6&db=m Expression of lysophosphatidic acid acyltransferase beta (LPAAT-beta) in ovarian carcinoma: correlation with tumour grading and prognosis. causal interaction,diagnostic usage,ongoing research,therapeutic application 4,4,4,1 2.3.1.51 Ovarian Neoplasms http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16230405&form=6&db=m Lysophosphatidic acid acyltransferase-beta is a prognostic marker and therapeutic target in gynecologic malignancies. causal interaction,diagnostic usage,ongoing research,therapeutic application 4,4,3,4 2.3.1.51 Ovarian Neoplasms http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=17106955&form=6&db=m LPAAT-beta identifies aggressive ovarian cancer. diagnostic usage,unassigned 1,0 2.3.1.51 Ovarian Neoplasms http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=33300816&form=6&db=m Clinical significance of combining salivary mRNAs and carcinoembryonic antigen for ovarian cancer detection. diagnostic usage,ongoing research,unassigned 1,2,0 2.3.1.51 Pancreatic Neoplasms http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=34078402&form=6&db=m Identification of prognostic lipid droplet-associated genes in pancreatic cancer patients via bioinformatics analysis. unassigned - 2.3.1.51 Polyneuropathies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=30563316&form=6&db=m Berardinelli-Seip syndrome patient with novel AGPAT2 splicesite mutation and concomitant development of non-diabetic polyneuropathy causal interaction,unassigned 4,0 2.3.1.51 Precursor Cell Lymphoblastic Leukemia-Lymphoma http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=21176343&form=6&db=m [Lysophosphatidic acid acyltransferase ? gene expression in newly diagnosed leukemia patients]. causal interaction,diagnostic usage,ongoing research,unassigned 4,4,4,0 2.3.1.51 Prostatic Neoplasms http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=28877685&form=6&db=m Positive regulation of prostate cancer cell growth by lipid droplet forming and processing enzymes DGAT1 and ABHD5. causal interaction,diagnostic usage,ongoing research,therapeutic application 3,3,3,2 2.3.1.51 Prostatic Neoplasms http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=29026202&form=6&db=m Loss of ABHD5 promotes the aggressiveness of prostate cancer cells. causal interaction,diagnostic usage,therapeutic application,unassigned 3,3,4,0 2.3.1.51 Prostatic Neoplasms http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=33219129&form=6&db=m ABHD5 suppresses cancer cell anabolism through lipolysis-dependent activation of the AMPK/mTORC1 pathway. causal interaction,diagnostic usage,therapeutic application,unassigned 4,4,1,0 2.3.1.51 Protein Deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=14708602&form=6&db=m Truncation of CGI-58 protein causes malformation of lamellar granules resulting in ichthyosis in Dorfman-Chanarin syndrome. causal interaction,unassigned 4,0 2.3.1.51 Pulmonary Disease, Chronic Obstructive http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=28575117&form=6&db=m Gene and metabolite time-course response to cigarette smoking in mouse lung and plasma. causal interaction,ongoing research,therapeutic application,unassigned 3,1,1,0 2.3.1.51 Sepsis http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=9575575&form=6&db=m Interaction of lipopolysaccharide with a mammalian lyso-phosphatidate acyltransferase (LPAAT) transfected into E. coli, and effect of lisofylline on LPAAT transfected into mammalian cells. causal interaction,ongoing research,unassigned 4,2,0 2.3.1.51 Thymoma http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=19162222&form=6&db=m Lipodystrophies: Disorders of adipose tissue biology. causal interaction,therapeutic application,unassigned 2,1,0 2.3.1.51 Thymoma http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=19494770&form=6&db=m Inherited lipodystrophies and hypertriglyceridemia. causal interaction,therapeutic application,unassigned 4,1,0