Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0854110
Disease: Insulin-resistant diabetes mellitus
Insulin-resistant diabetes mellitus 		0.110 GeneticVariation disease BEFREE In this paper we describe a female patient with partial lipodystrophy (affecting limb, femorogluteal and subcutaneous abdominal fat), white adipocytes with multiloculated lipid droplets and insulin-resistant diabetes, who was found to be homozygous for a premature truncation mutation in the lipid droplet protein cell death-inducing Dffa-like effector C (CIDEC) (E186X). 20049731 2009
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		0.010 GeneticVariation disease BEFREE In specific cases (Hapln4, ApoA4, Cidec, genes involved in lipid metabolism and liver fibrosis) mRNA upregulation was associated with hypomethylation. 31683443 2020
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias 		0.010 GeneticVariation group BEFREE Importantly, mutations and SNPs in CIDEC are associated with dyslipidemia and altered metabolic function in humans. 29859472 2018
CUI: C4316789
Disease: Partial lipodystrophy
Partial lipodystrophy 		0.010 GeneticVariation disease BEFREE Partial lipodystrophy and insulin resistant diabetes in a patient with a homozygous nonsense mutation in CIDEC. 20049731 2009
CUI: C3808940
Disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 5
LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 5 		0.600 Biomarker disease GENOMICS_ENGLAND Partial lipodystrophy and insulin resistant diabetes in a patient with a homozygous nonsense mutation in CIDEC. 20049731 2009
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		0.310 Biomarker disease CTD_human
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		0.310 Biomarker disease BEFREE CIDEC is the disease gene for autosomal recessive, FPL and LMNA and ZMPSTE24 for autosomal recessive, mandibuloacral dysplasia-associated lipodystrophy. 21865368 2011
CUI: C0162820
Disease: Dermatitis, Allergic Contact
Dermatitis, Allergic Contact 		0.300 Biomarker disease CTD_human Microarray analyses in dendritic cells reveal potential biomarkers for chemical-induced skin sensitization. 17374397 2007
CUI: C1720859
Disease: Familial Partial Lipodystrophy, Type 1
Familial Partial Lipodystrophy, Type 1 		0.300 Biomarker disease CTD_human
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		0.300 Biomarker disease CTD_human
CUI: C1720861
Disease: Familial Partial Lipodystrophy, Type 3
Familial Partial Lipodystrophy, Type 3 		0.300 Biomarker disease CTD_human
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		0.170 Biomarker disease BEFREE Data show that ASO-Fsp27 and fenofibrate synergize to promote resistance to diet-induced obesity and hypertriglyceridemia and to reverse hepatic steatosis, inflammation, oxidative stress, and fibrosis. 28874443 2017
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		0.170 Biomarker disease BEFREE Plasticity of histone modifications around Cidea and Cidec genes with secondary bile in the amelioration of developmentally-programmed hepatic steatosis. 31745102 2019
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		0.170 Biomarker disease HPO
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.160 Biomarker disease HPO
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.160 Biomarker disease BEFREE Data show that ASO-Fsp27 and fenofibrate synergize to promote resistance to diet-induced obesity and hypertriglyceridemia and to reverse hepatic steatosis, inflammation, oxidative stress, and fibrosis. 28874443 2017
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.160 Biomarker disease BEFREE Plasticity of histone modifications around Cidea and Cidec genes with secondary bile in the amelioration of developmentally-programmed hepatic steatosis. 31745102 2019
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		0.110 Biomarker phenotype HPO
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		0.110 Biomarker phenotype BEFREE Data show that ASO-Fsp27 and fenofibrate synergize to promote resistance to diet-induced obesity and hypertriglyceridemia and to reverse hepatic steatosis, inflammation, oxidative stress, and fibrosis. 28874443 2017
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy 		0.110 Biomarker disease HPO
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy 		0.110 Biomarker disease BEFREE CIDEC is the disease gene for autosomal recessive, FPL and LMNA and ZMPSTE24 for autosomal recessive, mandibuloacral dysplasia-associated lipodystrophy. 21865368 2011
CUI: C0854110
Disease: Insulin-resistant diabetes mellitus
Insulin-resistant diabetes mellitus 		0.110 Biomarker disease HPO
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans 		0.100 Biomarker disease HPO
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		0.100 Biomarker phenotype HPO
CUI: C0028949
Disease: Oligomenorrhea
Oligomenorrhea 		0.100 Biomarker phenotype HPO