Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3808940
Disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 5
LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 5 		0.600 GermlineCausalMutation disease ORPHANET 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 CausalMutation disease CLINVAR
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		0.170 AlteredExpression disease BEFREE Fsp27 is highly expressed in adipose tissue as well as the fatty liver of ob/ob mice. 28566630 2017
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		0.170 AlteredExpression disease BEFREE We attributed these effects to ceramide that can suppress peroxisome proliferator-activated receptor γ2, thus reducing the expression of Cd36 and Fsp27 and reducing liver steatosis. 23640498 2013
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		0.170 AlteredExpression disease BEFREE Fsp27 is highly expressed in adipose tissue and fatty liver. 31564684 2020
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		0.170 AlteredExpression disease BEFREE Fat-specific protein 27 (FSP27) is highly expressed in the fatty liver of genetically obese ob/ob mice and promotes hepatic triglyceride (TG) accumulation. 29454584 2018
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		0.170 AlteredExpression disease BEFREE In contrast, CIDEA expression decreased, but FSP27-β expression strongly increased in a dietary mouse model of steatohepatitis. 31097771 2019
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.160 AlteredExpression disease BEFREE Fsp27 is highly expressed in adipose tissue as well as the fatty liver of ob/ob mice. 28566630 2017
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.160 AlteredExpression disease BEFREE Fat-specific protein 27 (FSP27) is highly expressed in the fatty liver of genetically obese ob/ob mice and promotes hepatic triglyceride (TG) accumulation. 29454584 2018
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.160 AlteredExpression disease BEFREE We attributed these effects to ceramide that can suppress peroxisome proliferator-activated receptor γ2, thus reducing the expression of Cd36 and Fsp27 and reducing liver steatosis. 23640498 2013
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.160 AlteredExpression disease BEFREE Fsp27 is highly expressed in adipose tissue and fatty liver. 31564684 2020
CUI: C0028754
Disease: Obesity
Obesity 		0.090 AlteredExpression disease BEFREE These data suggest that partial reduction of FSP27 activity (e.g., using ASOs) might be exploited therapeutically in insulin-resistant obese or overweight patients. 27884961 2017
CUI: C0028754
Disease: Obesity
Obesity 		0.090 AlteredExpression disease BEFREE The mRNA expressions and protein levels of PPAR-γ and CIDEC genes started to increase in HFD mice as compared to ND mice and decreased gradually during the late phase of obesity in VAT. 25210844 2014
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.030 AlteredExpression disease BEFREE Interestingly, FSP27 was also expressed in the steatoic liver of a type II diabetes model mouse. 20190390 2010
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.020 AlteredExpression group BEFREE Expression of FSP27 in subcutaneous adipose tissue of a human diabetes cohort decreases with total fat mass but is not associated with measures of insulin resistance (e.g. homeostasis model assessment). 18334488 2008
CUI: C0011847
Disease: Diabetes
Diabetes 		0.010 AlteredExpression disease BEFREE Expression of FSP27 in subcutaneous adipose tissue of a human diabetes cohort decreases with total fat mass but is not associated with measures of insulin resistance (e.g. homeostasis model assessment). 18334488 2008
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		0.010 AlteredExpression disease BEFREE Knockout of CIDEB or CIDEC significantly reduced the amount of supernatant HBV DNA, intracellular viral RNA and nucleocapsid-associated viral DNA, while the expression of CIDEB or CIDEC recovered HBV production in CIDEB- or CIDEC-knockout cells. 28745269 2017
CUI: C0019187
Disease: Hepatitis, Alcoholic
Hepatitis, Alcoholic 		0.010 AlteredExpression disease BEFREE Hepatic expression of FSP27/CIDEC is highly up-regulated in mice following chronic-plus-binge ethanol feeding and in patients with AH; this up-regulation contributes to alcohol-induced liver damage. 26099526 2015
CUI: C0023895
Disease: Liver diseases
Liver diseases 		0.010 AlteredExpression group BEFREE This multifactorial improvement of liver disease noted when combining both drugs suggests that a course of treatment that includes both reduced FSP27 activity and activation of PPARα could provide therapeutic benefit to patients with NAFLD/NASH. 28874443 2017
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		0.010 AlteredExpression disease BEFREE This multifactorial improvement of liver disease noted when combining both drugs suggests that a course of treatment that includes both reduced FSP27 activity and activation of PPARα could provide therapeutic benefit to patients with NAFLD/NASH. 28874443 2017
CUI: C2936179
Disease: Obesity, Visceral
Obesity, Visceral 		0.010 AlteredExpression phenotype BEFREE We unexpectedly discovered extensive FSP27 expression in human endothelial cells that is downregulated in association with visceral obesity. 31433737 2019
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.010 PosttranslationalModification disease BEFREE Therapeutic silencing of FSP27 reduces the progression of atherosclerosis in Ldlr<sup>-/-</sup> mice. 29859472 2018
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.010 PosttranslationalModification disease BEFREE Therapeutic silencing of FSP27 reduces the progression of atherosclerosis in Ldlr<sup>-/-</sup> mice. 29859472 2018
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