NAFLD1
MCID: FTT008
MIFTS: 48

Fatty Liver Disease, Nonalcoholic 1 (NAFLD1)

Categories: Cancer diseases, Liver diseases, Metabolic diseases

Aliases & Classifications for Fatty Liver Disease, Nonalcoholic 1

MalaCards integrated aliases for Fatty Liver Disease, Nonalcoholic 1:

Name: Fatty Liver Disease, Nonalcoholic 1 57 29 6
Hepatic Steatosis 72 29 6
Fatty Liver Disease, Nonalcoholic, Susceptibility to, 1 57 13
Nafld1 57 72
Non-Alcoholic Fatty Liver Disease 1 72
Steatohepatitis 70
Fatty Liver 70

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
multifactorial

Miscellaneous:
genetic heterogeneity


HPO:

31
fatty liver disease, nonalcoholic 1:
Inheritance heterogeneous


Classifications:



External Ids:

OMIM® 57 613282
MeSH 44 D005234
SNOMED-CT via HPO 68 197321007 442191002
UMLS 70 C0015695 C2711227

Summaries for Fatty Liver Disease, Nonalcoholic 1

OMIM® : 57 The accumulation of excess triglyceride in the liver, a condition known as hepatic steatosis (or fatty liver), is associated with adverse metabolic consequences including insulin resistance and dyslipidemia. Factors promoting deposition of fat in the liver include obesity, diabetes, insulin resistance, and alcohol ingestion. Nonalcoholic fatty liver disease (NAFLD) is the most common form of liver disease in Western countries. In a subset of individuals hepatic steatosis promotes an inflammatory response in the liver, referred to as steatohepatitis, which can progress to cirrhosis and liver cancer (summary by Romeo et al., 2008). Cohen et al. (2011) reviewed nonalcoholic fatty liver disease. (613282) (Updated 05-Apr-2021)

MalaCards based summary : Fatty Liver Disease, Nonalcoholic 1, also known as hepatic steatosis, is related to fatty liver disease and non-alcoholic fatty liver disease. An important gene associated with Fatty Liver Disease, Nonalcoholic 1 is PRMT7 (Protein Arginine Methyltransferase 7). The drugs Angiotensin II and Losartan have been mentioned in the context of this disorder. Affiliated tissues include liver, adipocyte and endothelial, and related phenotype is hepatic steatosis.

UniProtKB/Swiss-Prot : 72 Non-alcoholic fatty liver disease 1: A condition characterized by accumulation of triglycerides in the liver. It is associated with adverse metabolic consequences, including insulin resistance and dyslipidemia. In a subset of individuals, hepatic steatosis promotes an inflammatory response in the liver, referred to as steatohepatitis, which can progress to cirrhosis and liver cancer. NAFLD is the most common form of liver disease in Western countries.

Related Diseases for Fatty Liver Disease, Nonalcoholic 1

Diseases in the Fatty Liver Disease, Nonalcoholic 1 family:

Fatty Liver Disease, Nonalcoholic 2

Diseases related to Fatty Liver Disease, Nonalcoholic 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 299)
# Related Disease Score Top Affiliating Genes
1 fatty liver disease 31.6 YARS1 PRMT7 PNPLA3
2 non-alcoholic fatty liver disease 31.1 YARS1 PRMT7 PNPLA3 NAFLD1
3 visceral steatosis, congenital 29.5 YARS1 PRMT7
4 lipodystrophy, familial partial, type 2 11.4
5 lipoatrophy with diabetes, hepatic steatosis, cardiomyopathy, and leukomelanodermic papules 11.2
6 lipodystrophy, congenital generalized, type 2 11.2
7 3-methylglutaconic aciduria, type v 11.2
8 lipodystrophy, congenital generalized, type 3 11.2
9 lipodystrophy, familial partial, type 6 11.2
10 visceral steatosis 11.2
11 hypobetalipoproteinemia, familial, 1 11.1
12 congenital generalized lipodystrophy 11.1
13 abetalipoproteinemia 11.1
14 citrullinemia, type ii, adult-onset 11.1
15 familial partial lipodystrophy 11.1
16 chylomicron retention disease 11.1
17 adrenomyodystrophy 11.1
18 lipodystrophy, congenital generalized, type 1 11.1
19 mitochondrial trifunctional protein deficiency 11.1
20 neutral lipid storage disease with myopathy 11.1
21 lipodystrophy, congenital generalized, type 4 11.1
22 mitochondrial complex iv deficiency, nuclear type 6 11.1
23 lipodystrophy, familial partial, type 5 11.1
24 muscular dystrophy, limb-girdle, autosomal recessive 18 11.1
25 combined oxidative phosphorylation deficiency 16 11.1
26 combined oxidative phosphorylation deficiency 21 11.1
27 microcephaly, developmental delay, and brittle hair syndrome 11.1
28 mitochondrial complex iv deficiency, nuclear type 4 11.1
29 acquired generalized lipodystrophy 11.1
30 liver disease 11.0
31 non-alcoholic steatohepatitis 11.0
32 lipid metabolism disorder 10.9
33 body mass index quantitative trait locus 9 10.9
34 body mass index quantitative trait locus 8 10.9
35 body mass index quantitative trait locus 4 10.9
36 body mass index quantitative trait locus 10 10.9
37 body mass index quantitative trait locus 7 10.9
38 body mass index quantitative trait locus 12 10.9
39 body mass index quantitative trait locus 14 10.9
40 body mass index quantitative trait locus 18 10.9
41 body mass index quantitative trait locus 19 10.9
42 body mass index quantitative trait locus 11 10.9
43 glucose intolerance 10.8
44 hepatitis c 10.8
45 fibrosis of extraocular muscles, congenital, 1 10.8
46 hepatitis b 10.8
47 hyperglycemia 10.7
48 hepatitis 10.7
49 hyperinsulinism 10.7
50 hypertriglyceridemia, familial 10.7

Graphical network of the top 20 diseases related to Fatty Liver Disease, Nonalcoholic 1:



Diseases related to Fatty Liver Disease, Nonalcoholic 1

Symptoms & Phenotypes for Fatty Liver Disease, Nonalcoholic 1

Human phenotypes related to Fatty Liver Disease, Nonalcoholic 1:

31
# Description HPO Frequency HPO Source Accession
1 hepatic steatosis 31 HP:0001397

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Abdomen Liver:
fatty liver (hepatic steatosis), nonalcoholic

Clinical features from OMIM®:

613282 (Updated 05-Apr-2021)

Drugs & Therapeutics for Fatty Liver Disease, Nonalcoholic 1

Drugs for Fatty Liver Disease, Nonalcoholic 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 381)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Angiotensin II Approved, Investigational Phase 4 68521-88-0, 11128-99-7, 4474-91-3 172198
2
Losartan Approved Phase 4 114798-26-4 3961
3
Entecavir Approved, Investigational Phase 4 142217-69-4 153941
4
Milk thistle Approved, Experimental, Investigational Phase 4 65666-07-1
5
Telmisartan Approved, Investigational Phase 4 144701-48-4 65999
6
Simvastatin Approved Phase 4 79902-63-9 54454
7
Amlodipine Approved Phase 4 88150-42-9 2162
8
Perindopril Approved Phase 4 107133-36-8, 82834-16-0 107807
9
Glimepiride Approved Phase 4 93479-97-1 3476
10
Selenium Approved, Investigational, Vet_approved Phase 4 7782-49-2
11
Exenatide Approved, Investigational Phase 4 141758-74-9 15991534
12
Liraglutide Approved Phase 4 204656-20-2 44147092
13
Rifampicin Approved Phase 4 13292-46-1 5381226 5458213
14
Orlistat Approved, Investigational Phase 4 96829-58-2 3034010
15
Phentermine Approved, Illicit Phase 4 122-09-8 4771
16
Gliclazide Approved Phase 4 21187-98-4 3475
17
Insulin aspart Approved Phase 4 116094-23-6 16132418
18
Insulin detemir Approved Phase 4 169148-63-4 5311023
19
Efavirenz Approved, Investigational Phase 4 154598-52-4 64139
20
Empagliflozin Approved Phase 4 864070-44-0
21
Alogliptin Approved Phase 4 850649-61-5 11450633
22
Polyestradiol phosphate Approved Phase 4 28014-46-2
23
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
24
tannic acid Approved Phase 4 1401-55-4
25
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
26
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
27
Cetrorelix Approved, Investigational Phase 4 120287-85-6 25074887 16129715
28
Mannitol Approved, Investigational Phase 4 69-65-8 6251 453
29
Tocopherol Approved, Investigational Phase 4 1406-66-2
30
Methyltestosterone Approved Phase 4 58-18-4 6010
31
Testosterone undecanoate Approved, Investigational Phase 4 5949-44-0
32
Testosterone Approved, Investigational Phase 4 58-22-0 6013
33
Testosterone enanthate Approved Phase 4 315-37-7 9416
34
Dulaglutide Approved, Investigational Phase 4 923950-08-7
35
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
36
Zinc Approved, Investigational Phase 4 7440-66-6 32051
37
Rosiglitazone Approved, Investigational Phase 4 122320-73-4 77999
38
Insulin glargine Approved Phase 4 160337-95-1
39
Rifaximin Approved, Investigational Phase 4 80621-81-4 6436173 46783403
40
Saxagliptin Approved Phase 4 361442-04-8 11243969
41
Ribavirin Approved Phase 4 36791-04-5 37542
42
Peginterferon alfa-2a Approved, Investigational Phase 4 198153-51-4 5360545
43
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 5280795 6221
44
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
45
Calcifediol Approved, Nutraceutical Phase 4 19356-17-3 5283731 6433735
46
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4 59-02-9 14985
47
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
48
Metadoxine Experimental Phase 4 74536-44-0
49
Tenofovir Experimental, Investigational Phase 4 147127-20-6 464205
50
Ipragliflozin Investigational Phase 4 761423-87-4

Interventional clinical trials:

(show top 50) (show all 1071)
# Name Status NCT ID Phase Drugs
1 Endobarrier Treatment in Obese Subjects With T2DM Unknown status NCT01718457 Phase 4
2 Influence of Hepatic Steatosis on the Therapeutic Effect of Entecavir in Chronic Hepatitis B Patients-A Randomized, Double-Blinded, Controlled Trial Unknown status NCT01148576 Phase 4 entecavir;entecavir;essentiale + entecavir;Vitamin E + entecavir
3 A Randomised Controlled Trial of Lifestyle Versus Ezetimibe Plus Lifestyle in Patients With Non-alcoholic Steatohepatitis Unknown status NCT01950884 Phase 4 Ezetimibe
4 Pilot Study to Assess the Antiviral Activity and Safety of Besifovir Dipivoxil 150mg and L-carnitine 660mg Compared to Tenofovir Alafenamide 25mg in Chronic Hepatitis B Patients With Nonalcoholic Fatty Liver Unknown status NCT03604016 Phase 4 Besifovir dipivoxil;L-carnitine;Tenofovir Alafenamide
5 THE EFFECT OF DUAL TREATMENT WITH L-CARNITINE AND MAGNESIUM ON Patients With Non Alcoholic Fatty Liver Disease Unknown status NCT01956825 Phase 4
6 Placebo Controlled Study Using Lovaza as Treatment for Non-Alcoholic Fatty Liver Disease Unknown status NCT00941642 Phase 4 Lovaza;placebo control
7 An Randomized Open Label Trial on the Impact of 24 Weeks of Atorvastatin Therapy on Liver Fat Content and Abdominal Fat Content in Patients With Type 2 Diabetes Combined With High LDL-C and Non-alcoholic Fatty Liver Disease Unknown status NCT01720719 Phase 4 atorvastatin;Vitamin E
8 Randomized Study Comparing Switching to Raltegravir-based Antiretroviral Versus Maintaining Any Other Antiretroviral Therapy in HIV Monoinfected Patients Impact on Fatty Liver and Liver Fibrosis Assessed by Noninvasive Diagnostic Methods Unknown status NCT02210715 Phase 4 Isentress.
9 Evaluation of Perindopril and Telmisartan for the Treatment of Nonalcoholic Fatty Liver Disease: A Randomized Controlled Trial Unknown status NCT02213224 Phase 4 Perindopril;Telmisartan;Amlodipine
10 Pleiotropic Effects and Safety of Sodium Glucose Co-transporter 2 Inhibitor Versus Sulfonylurea in Patients With Type 2 Diabetes and Non-alcoholic Fatty Liver Unknown status NCT02649465 Phase 4 Tofogliflozin;Glimepiride
11 Complex Imaging Assessment of Steatosis in Patients Under Treatment With Combination Silimarin, Phyllanthus Niruri and Choline Unknown status NCT02669641 Phase 4
12 Effect of Liraglutide on Fatty Liver Content Evaluated by Proton-spectroscopy (1H-spectroscopy) and Lipoprotein Kinetic, in Patients With Type 2 Diabetes Unknown status NCT02721888 Phase 4 Liraglutide;MRI/ MRS (Magnetic Resonance Imaging /Magnetic Resonance Spectroscopy)
13 Effect of Metadoxine on Oxidative Stress in Non-alcoholic Fatty Liver Disease Prediabetic Mexican Patients Unknown status NCT02051842 Phase 4 Metadoxine
14 The Effect of Empagliflozin on NAFLD in Asian Patients With Type 2 Diabetes Unknown status NCT02964715 Phase 4 Empagliflozin
15 Ultrasonographic Modification of Liver Steatosis and Visceral Fat Induced by Treatment With Losartan and Simvastatin in Hypertensive Normocholesterolemic Obese Patients Unknown status NCT00669435 Phase 4 Losartan + Simvastatin;Amlodipine + Simvastatin
16 NAFLD in T2DM: Prevalence in Hispanics and Role of Treatment Completed NCT01002547 Phase 4 pioglitazone-placebo;pioglitazone;pioglitazone-placebo;Vitamin E-placebo
17 Effects of Exenatide (Byetta®) on Biochemical and Histological Parameters of Liver Function in Patients With Nonalcoholic Steatohepatitis (NASH) Completed NCT01208649 Phase 4 Exenatide
18 Adding Liraglutide to High Dose Insulin: Breaking the Cycle Completed NCT01505673 Phase 4 Liraglutide;Saline
19 Biochemical and Echosonographic Impacts Using Siliphos-Selenium-Methionine-Alpha Lipoic Acid + Metformin Versus Metformin in Patients With Fatty Liver and Steatohepatitis Completed NCT01650181 Phase 4 Metformin;Metformin
20 A Randomized, Prospective, Open Label, Active Control, Phase IV Study to Evaluate the Effects of Statin Monotherapy or Statin / Ezetimibe Combination Therapy on Hepatic Steatosis in Patients With Hyperlipidemia and Nonalcoholic Fatty Liver Disease Completed NCT03434613 Phase 4 Rosuvastatin;Rosuvastatin/ezetimibe combination
21 Role of Pioglitazone in the Treatment of Non-alcoholic Steatohepatitis (NASH) Completed NCT00227110 Phase 4 Pioglitazone;Placebo
22 Clinical Study Evaluating the Efficacy and Safety of Montelukast in the Treatment of Non-Alcoholic Steatohepatitis (NASH) Completed NCT04537780 Phase 4 Montelukast
23 Long-term Role of Pioglitazone in Non-Alcoholic Fatty Liver Disease (NAFLD) in Type 2 Diabetes Mellitus (T2DM). Completed NCT00994682 Phase 4 Pioglitazone study drug;Placebo;Pioglitazone Open Label
24 Orlistat (Xenical) in the Treatment of Overweight Patients With Nonalcoholic Steatohepatitis (NASH) Completed NCT00160407 Phase 4 Orlistat (Xenical)
25 Exenatide BID Compared With Insulin Glargine to Change Liver Fat Content in Non-alcoholic Fatty-liver Disease Patients With Type 2 Diabetes Completed NCT02303730 Phase 4 Exenatide;insulin glargine
26 Efficacy of Pioglitazone Hydrochloride and Metformin Hydrochloride Tablets on the Patients With Newly Diagnosed Type 2 Diabetes Mellitus Combined With Non-alcoholic Fatty Liver Disease:an Multicenter,Randomized, Double-blind, Parallel- Controlled Study. Completed NCT03796975 Phase 4 Combination of Pioglitazone and Metformin Tablets;Metformin Hydrochloride Tablets
27 PXR-aktivaation Vaikutus Maksan Rasvoittumiseen Completed NCT02329405 Phase 4 Rifampicin;Placebo
28 Effectiveness and Tolerability of Phentermine in the Reduction of Intrahepatic Fat Infiltration, Adipose Tissue and Postoperative Complications in Patients Under Bariatric Surgery Completed NCT03849729 Phase 4 Phentermine
29 A 24 Week, Multicenter, Prospective, Open-labeled, Single-arm, Exploratory Phase 4 Clinical Trial to Evaluate the Safety and Efficacy of Lobeglitazone in Decreasing Intrahepatic Fat Contents in Type 2 Diabetes With NAFLD Completed NCT02285205 Phase 4 Oral administration of Lobeglitazone
30 Comparison of Efficacy of Liraglutide, Metformin and Gliclazide MR on Hepatic Lipid Content in Patients With Type 2 Diabetes (T2DM) and Non-alcoholic Fatty Liver (NAFLD) Completed NCT03068065 Phase 4 Liraglutide;Metformin;Gliclazide
31 The Effects of Purified n-3 Fatty Acids on Serum Fibrosis Markers and Cardiovascular Risk Markers in a Randomized Placebo Controlled Trial in Patients With Non Alcoholic Fatty Liver Disease Completed NCT00760513 Phase 4 OMACOR;Placebo oral capsule
32 Effects of Empagliflozin on Liver Fat Content, Energy Metabolism and Body Composition in Patients With Type 2 Diabetes Completed NCT02637973 Phase 4 Empagliflozin;Placebo
33 Use of Vitamin D in Treatment of Non-Alcoholic Fatty Liver Disease Detected by Transient Elastography Completed NCT04038853 Phase 4 1,25-Dihydroxyvitamin D;Placebo
34 Efficacy of Liraglutide vs. Sitagliptin vs. Insulin Glargine Per Day on Liver Fat When Combined With Metformin in T2DM Subjects With Non-alcoholic Fatty-liver Disease Completed NCT02147925 Phase 4 Liraglutide combined with metformin;Insulin glargine combined with metformin;Sitagliptin combined with metformin
35 A New Treatment Strategy of Adding Exenatide to Insulin Therapy for Patients With Type 2 Diabetes and Non-Alcoholic Fatty Liver Disease (NAFLD) Completed NCT01006889 Phase 4 Exenatide
36 Impact of Short-term Fructose-enriched Diet on Serum Metabolome by Normal- and Over-weighed Women. Completed NCT03444233 Phase 4
37 The Comparison of Effect Between Salsalate and Placebo in Osteoarthritis With Nonalcoholic Fatty Liver Disease: Investigator Initiated Randomized Placebo-controlled Double-blind, Pilot Study Completed NCT03222206 Phase 4 Salsalate
38 Effects of Ipragliflozin on Excessive Fat in Type 2 Diabetes Patients With Non-alcoholic Fatty Liver Disease Treated With Metformin and Pioglitazone Completed NCT02875821 Phase 4 Ipragliflozin;metformin with pioglitazone
39 A Multi-Centered, Prospective, Randomized, Placebo-Controlled Clinical Trial for the Treatment of Significant Steatosis or NASH With Xenical Followed by Treatment of Hepatitis C (HCV) With PEG-Interferon Alpha-2a/Copegus Completed NCT00207311 Phase 4 Xenical, Pegasys, Copegus
40 The Effect of Vitamin D Supplementation on the Glycemic Control and Non-alcoholic Fatty Liver Disease in Type 2 Diabetes Completed NCT01854463 Phase 4 Vitamin D3;placebo
41 Magnetic Resonance Assessment of Victoza Efficacy in the Regression of Cardiovascular Dysfunction In Type 2 Diabetes Mellitus Completed NCT01761318 Phase 4 Liraglutide;Liraglutide - Placebo
42 A 24 Week Monocentric Prospective Randomized, Placebo-controlled Trial to Evaluate Efficacy of Combination of Exenatide and Dapagliflozin Compared to Dapagliflozin and Placebo and Its Effects on Hepatic, Myocardial and Pancreatic Fat Distribution in Patients With Uncontrolled Type 2 Diabetes Mellitus. Completed NCT03007329 Phase 4 Exenatide;Exenatide matching Placebo;Dapagliflozin
43 Changes in Liver Steatosis After Switching From Efavirenz to Raltegravir Among HIV/HCV-Coinfected Patients Receiving Two Nucleoside Analogs Plus Efavirenz: The Steral Study Completed NCT01900015 Phase 4 Raltegravir;Efavirenz
44 MRI Substudy; Metabolic Changes Due to Iatrogenic Hypogonadism in Patients With Prostate Cancer: Orchiectomy vs. Triptorelin Completed NCT02102646 Phase 4 Triptorelin
45 Magnetic Resonance Assessment of Victoza Efficacy in the Regression of Cardiovascular Dysfunction In Type 2 Diabetes Mellitus and South Asian Descent Completed NCT02660047 Phase 4 Liraglutide;Liraglutide - Placebo
46 Effect on Liver Fat, Adipose Tissue and Metabolic Parameters When Switching a Protease Inhibitor or Efavirenz to Once Daily Raltegravir in HIV+ Patients With Body Mass Index Over 25 kg/m2 and With at Least One Metabolic Syndrome Component Completed NCT03374358 Phase 4 Raltegravir
47 To Evaluate the Effect of Nesinaact on Non-alcoholic Steatohepatitis Through MRI and Liver Fibroscan in Patients With Type 2 Diabetes: A Prospective, Open-Label, Single-Arm, Single-Center Clinical Study Recruiting NCT03950505 Phase 4 Nesinaact 25/15 (Alogliptin benzoate 25mg, pioglitazone hydrochloride 15mg) treatment for 24 weeks
48 Efficacy and Safety of Berberine in Non-alcoholic Steatohepatitis: a Multicentre, Randomised, Placebo-controlled Trial Recruiting NCT03198572 Phase 4 Placebo;Berberine
49 Comparison of The Effects of Thiazolidinediones(TZD), Sodium- Glucose Cotransporter 2 Inhibitors(SGLT2i) Alone and TZD / SGLT2i Combination Therapy on Non-alcoholic Fatty Liver Disease in Type 2 Diabetic Patients With Fatty Liver Recruiting NCT03646292 Phase 4 Pioglitazone;Empagliflozin;Combination of pioglitazone and empagliflozin
50 Combined Active Treatment in Type 2 Diabetes With NASH Recruiting NCT04639414 Phase 4 Empagliflozin 10mg oral tablet / Semaglutide 1mg pen injector;Empagliflozin 10mg oral tablet and placebo pen injector matching semaglutide;Placebo matching empagliflozin and placebo pen injector matching semaglutide

Search NIH Clinical Center for Fatty Liver Disease, Nonalcoholic 1

Genetic Tests for Fatty Liver Disease, Nonalcoholic 1

Genetic tests related to Fatty Liver Disease, Nonalcoholic 1:

# Genetic test Affiliating Genes
1 Fatty Liver Disease, Nonalcoholic 1 29
2 Hepatic Steatosis 29

Anatomical Context for Fatty Liver Disease, Nonalcoholic 1

MalaCards organs/tissues related to Fatty Liver Disease, Nonalcoholic 1:

40
Liver, Adipocyte, Endothelial, Thyroid, Ovary, Kidney, Skeletal Muscle

Publications for Fatty Liver Disease, Nonalcoholic 1

Articles related to Fatty Liver Disease, Nonalcoholic 1:

(show top 50) (show all 10116)
# Title Authors PMID Year
1
The PNPLA3 I148M variant modulates the fibrogenic phenotype of human hepatic stellate cells. 6 61
28073161 2017
2
PNPLA3 expression and its impact on the liver: current perspectives. 61 6
29158695 2017
3
Pnpla3I148M knockin mice accumulate PNPLA3 on lipid droplets and develop hepatic steatosis. 61 6
24917523 2015
4
Inflammasome-mediated dysbiosis regulates progression of NAFLD and obesity. 57 61
22297845 2012
5
Prevalence of hepatic steatosis in an urban population in the United States: impact of ethnicity. 61 57
15565570 2004
6
An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS. 6
29232904 2017
7
NAFLD causes selective CD4(+) T lymphocyte loss and promotes hepatocarcinogenesis. 57
26934227 2016
8
Influence of the PNPLA3 rs738409 Polymorphism on Non-Alcoholic Fatty Liver Disease and Renal Function among Normal Weight Subjects. 6
26200108 2015
9
Meta-analysis of the influence of I148M variant of patatin-like phospholipase domain containing 3 gene (PNPLA3) on the susceptibility and histological severity of nonalcoholic fatty liver disease. 6
21381068 2011
10
Human fatty liver disease: old questions and new insights. 57
21700865 2011
11
Variant in PNPLA3 is associated with alcoholic liver disease. 57
19946271 2010
12
Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease. 57
18820647 2008
13
Ethnic differences in the prevalence of cryptogenic cirrhosis. 57
15046220 2004
14
Swertiamarin supplementation prevents obesity-related chronic inflammation and insulin resistance in mice fed a high-fat diet. 61
33794740 2021
15
Temperature-corrected proton density fat fraction estimation using chemical shift-encoded MRI in phantoms. 61
33565112 2021
16
Co-option of PPARα in the regulation of lipogenesis and fatty acid oxidation in CLA-induced hepatic steatosis. 61
33184849 2021
17
Danthron ameliorates obesity and MAFLD through activating the interplay between PPARα/RXRα heterodimer and adiponectin receptor 2. 61
33581653 2021
18
SLC6A14 deficiency is linked to obesity, fatty liver, and metabolic syndrome but only under conditions of a high-fat diet. 61
33513428 2021
19
Evaluation of hepatic steatosis before liver transplantation in ex vivo by volumetric quantitative PDFF-MRI. 61
33197060 2021
20
Deletion of phospholipase D1 decreases bone mass and increases fat mass via modulation of Runx2, β-catenin-osteoprotegerin, PPAR-γ and C/EBPα signaling axis. 61
33497821 2021
21
Long-term androgen excess induces insulin resistance and non-alcoholic fatty liver disease in PCOS-like rats. 61
33513383 2021
22
Serum leptin as a mediator of the influence of insulin resistance on hepatic steatosis in youths with excess adiposity. 61
33618924 2021
23
Adipose-specific knockout of ubiquitin-conjugating enzyme E2L6 (Ube2l6) reduces diet-induced obesity, insulin resistance, and hepatic steatosis. 61
33712284 2021
24
Beinaglutide shows significantly beneficial effects in diabetes/obesity-induced nonalcoholic steatohepatitis in ob/ob mouse model. 61
33482185 2021
25
Mesencephalic astrocyte-derived neurotrophic factor alleviates alcohol induced hepatic steatosis via activating Stat3-mediated autophagy. 61
33713857 2021
26
Genetic ablation of fas-activated serine/threonine kinase ameliorates alcoholic liver disease through modulating HuR-SIRT1 mRNA complex stability. 61
33610658 2021
27
Urantide decreases hepatic steatosis in rats with experimental atherosclerosis via the MAPK/Erk/JNK pathway. 61
33604686 2021
28
GCSF deficiency attenuates nonalcoholic fatty liver disease through regulating GCSFR-SOCS3-JAK-STAT3 pathway and immune cells infiltration. 61
33470903 2021
29
Racial and Ethnic Differences in Metabolic Disease in Adolescents With Obesity and Polycystic Ovary Syndrome. 61
33644620 2021
30
Changes in Liver Stiffness and Noninvasive Fibrosis Scores in Egyptian Adolescents Successfully Treated with Ledipasvir-Sofosbuvir for Chronic Hepatitis C Virus Infection. 61
33347957 2021
31
Erratum to: Non-nucleoside reverse transcriptase inhibitor efavirenz activates PXR to induce hypercholesterolemia and hepatic steatosis [J Hepatol (2019); 70 (5): 930-940]. 61
33526292 2021
32
Hepatic Ago2 Regulates PPARα for Oxidative Metabolism Linked to Glycemic Control in Obesity and Post Bariatric Surgery. 61
33567453 2021
33
Inhibition of the sodium-glucose co-transporter SGLT2 by canagliflozin ameliorates diet-induced obesity by increasing intra-adipose sympathetic innervation. 61
33480065 2021
34
Association of abdominal subcutaneous fat thickness with hepatic steatosis, liver enzymes, and serum lipids in obese children. 61
33749197 2021
35
The S100 calcium-binding protein A11 promotes hepatic steatosis through RAGE-mediated AKT-mTOR signaling. 61
33571540 2021
36
Drug-induced hepatic steatosis in absence of severe mitochondrial dysfunction in HepaRG cells: proof of multiple mechanism-based toxicity. 61
32535746 2021
37
Nonalcoholic fatty liver disease, diastolic dysfunction, and impaired myocardial glucose uptake in patients with type 2 diabetes. 61
33394549 2021
38
Seasonal variations in photoperiod affect hepatic metabolism of medaka (Oryzias latipes). 61
33475250 2021
39
Inhibition of PAI-1 Promotes Lipolysis and Enhances Weight Loss in Obese Mice. 61
33594826 2021
40
Hydrogen-rich water protects against liver injury in nonalcoholic steatohepatitis through HO-1 enhancement via IL-10 and Sirt 1 signaling. 61
33439102 2021
41
Dairy Fat Intake, Plasma Pentadecanoic Acid, and Plasma Iso-heptadecanoic Acid Are Inversely Associated With Liver Fat in Children. 61
33399331 2021
42
Leukocyte cell-derived chemotaxin 2 promotes the development of nonalcoholic fatty liver disease through STAT-1 pathway in mice. 61
33555112 2021
43
The effect of acetylsalicylic acid and pentoxifylline in guinea pigs with non-alcoholic steatohepatitis. 61
33354924 2021
44
Pharmacokinetic interaction between atorvastatin and fixed-dose combination of sofosbuvir/ledipasvir in healthy male Egyptian volunteers. 61
33791829 2021
45
DOT1L regulates thermogenic adipocyte differentiation and function via modulating H3K79 methylation. 61
33795413 2021
46
Pilot study of a noninvasive real-time optical backscatter probe in liver transplantation. 61
33462839 2021
47
Osr1 regulates hepatic inflammation and cell survival in the progression of non-alcoholic fatty liver disease. 61
33005011 2021
48
Testosterone treatment is associated with reduced adipose tissue dysfunction and nonalcoholic fatty liver disease in obese hypogonadal men. 61
32772323 2021
49
Therapeutic potential of puerarin against methionine-choline-deficient diet-induced non-alcoholic steatohepatitis determined by combination of 1H NMR spectroscopy-based metabonomics and 16S rRNA gene sequencing. 61
33601157 2021
50
Oxidative stress and Liver X Receptor agonist induce hepatocellular carcinoma in Non-alcoholic steatohepatitis model. 61
32870526 2021

Variations for Fatty Liver Disease, Nonalcoholic 1

ClinVar genetic disease variations for Fatty Liver Disease, Nonalcoholic 1:

6 (show top 50) (show all 87)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PNPLA3 NM_025225.3(PNPLA3):c.444C>G (p.Ile148Met) SNV Benign, risk factor 341932 rs738409 GRCh37: 22:44324727-44324727
GRCh38: 22:43928847-43928847
2 PRMT7 NM_019023.5(PRMT7):c.1713C>A (p.Cys571Ter) SNV Pathogenic 523434 rs1251713297 GRCh37: 16:68389688-68389688
GRCh38: 16:68355785-68355785
3 PRMT7 NM_019023.5(PRMT7):c.322G>T (p.Glu108Ter) SNV Pathogenic 523435 rs1014959895 GRCh37: 16:68363008-68363008
GRCh38: 16:68329105-68329105
4 YARS1 NM_003680.3:c.806T>C SNV Likely pathogenic 996695 GRCh37: 1:33252555-33252555
GRCh38: 1:32786954-32786954
5 OPA1 NM_001354663.2(OPA1):c.-260_-243del Deletion Uncertain significance 214916 rs863224140 GRCh37: 3:193332587-193332604
GRCh38: 3:193614798-193614815
6 PNPLA3 NM_025225.3(PNPLA3):c.917G>A (p.Arg306His) SNV Uncertain significance 900761 GRCh37: 22:44333090-44333090
GRCh38: 22:43937210-43937210
7 PNPLA3 NM_025225.3(PNPLA3):c.950T>A (p.Leu317Gln) SNV Uncertain significance 900762 GRCh37: 22:44333123-44333123
GRCh38: 22:43937243-43937243
8 PNPLA3 NM_025225.3(PNPLA3):c.*141T>G SNV Uncertain significance 341951 rs886057602 GRCh37: 22:44342403-44342403
GRCh38: 22:43946523-43946523
9 MT-TL1 NC_012920.1:m.3275C>T SNV Uncertain significance 370045 rs1057516057 GRCh37: MT:3275-3275
GRCh38: MT:3275-3275
10 PNPLA3 NM_025225.3(PNPLA3):c.64del (p.His22fs) Deletion Uncertain significance 631896 rs765529904 GRCh37: 22:44319854-44319854
GRCh38: 22:43923974-43923974
11 PNPLA3 NM_025225.3(PNPLA3):c.283C>T (p.Arg95Ter) SNV Uncertain significance 631897 rs753837923 GRCh37: 22:44322910-44322910
GRCh38: 22:43927030-43927030
12 PNPLA3 NM_025225.3(PNPLA3):c.1186C>T (p.Arg396Ter) SNV Uncertain significance 631898 rs764895790 GRCh37: 22:44340644-44340644
GRCh38: 22:43944764-43944764
13 PNPLA3 NM_025225.3(PNPLA3):c.484G>A (p.Val162Met) SNV Uncertain significance 899623 GRCh37: 22:44324767-44324767
GRCh38: 22:43928887-43928887
14 PNPLA3 NM_025225.3(PNPLA3):c.494T>C (p.Val165Ala) SNV Uncertain significance 899624 GRCh37: 22:44328765-44328765
GRCh38: 22:43932885-43932885
15 PNPLA3 NM_025225.3(PNPLA3):c.557C>A (p.Pro186His) SNV Uncertain significance 899625 GRCh37: 22:44328828-44328828
GRCh38: 22:43932948-43932948
16 PNPLA3 NM_025225.3(PNPLA3):c.599C>T (p.Thr200Met) SNV Uncertain significance 899626 GRCh37: 22:44328870-44328870
GRCh38: 22:43932990-43932990
17 PNPLA3 NM_025225.3(PNPLA3):c.617A>C (p.Asp206Ala) SNV Uncertain significance 899627 GRCh37: 22:44328888-44328888
GRCh38: 22:43933008-43933008
18 PNPLA3 NM_025225.3(PNPLA3):c.*176G>A SNV Uncertain significance 899690 GRCh37: 22:44342438-44342438
GRCh38: 22:43946558-43946558
19 PNPLA3 NM_025225.3(PNPLA3):c.*222G>A SNV Uncertain significance 899691 GRCh37: 22:44342484-44342484
GRCh38: 22:43946604-43946604
20 PNPLA3 NM_025225.3(PNPLA3):c.*346G>A SNV Uncertain significance 899693 GRCh37: 22:44342608-44342608
GRCh38: 22:43946728-43946728
21 PNPLA3 NC_000022.11:g.43923732C>T SNV Uncertain significance 900686 GRCh37: 22:44319612-44319612
GRCh38: 22:43923732-43923732
22 PNPLA3 NC_000022.11:g.43923781C>G SNV Uncertain significance 900687 GRCh37: 22:44319661-44319661
GRCh38: 22:43923781-43923781
23 PNPLA3 NC_000022.11:g.43923804T>C SNV Uncertain significance 900688 GRCh37: 22:44319684-44319684
GRCh38: 22:43923804-43923804
24 PNPLA3 NM_025225.3(PNPLA3):c.-69T>C SNV Uncertain significance 900689 GRCh37: 22:44319723-44319723
GRCh38: 22:43923843-43923843
25 PNPLA3 NM_025225.3(PNPLA3):c.696+12G>A SNV Uncertain significance 900756 GRCh37: 22:44328979-44328979
GRCh38: 22:43933099-43933099
26 PNPLA3 NM_025225.3(PNPLA3):c.697-5C>A SNV Uncertain significance 900757 GRCh37: 22:44330481-44330481
GRCh38: 22:43934601-43934601
27 PNPLA3 NM_025225.3(PNPLA3):c.697-4A>T SNV Uncertain significance 900758 GRCh37: 22:44330482-44330482
GRCh38: 22:43934602-43934602
28 PNPLA3 NM_025225.3(PNPLA3):c.711A>G (p.Ile237Met) SNV Uncertain significance 900759 GRCh37: 22:44330500-44330500
GRCh38: 22:43934620-43934620
29 PNPLA3 NM_025225.3(PNPLA3):c.*448C>T SNV Uncertain significance 900835 GRCh37: 22:44342710-44342710
GRCh38: 22:43946830-43946830
30 PNPLA3 NM_025225.3(PNPLA3):c.*760T>C SNV Uncertain significance 900836 GRCh37: 22:44343022-44343022
GRCh38: 22:43947142-43947142
31 PNPLA3 NM_025225.3(PNPLA3):c.*812A>G SNV Uncertain significance 900837 GRCh37: 22:44343074-44343074
GRCh38: 22:43947194-43947194
32 PNPLA3 NM_025225.3(PNPLA3):c.82T>C (p.Cys28Arg) SNV Uncertain significance 902366 GRCh37: 22:44319873-44319873
GRCh38: 22:43923993-43923993
33 PNPLA3 NM_025225.3(PNPLA3):c.226G>A (p.Ala76Thr) SNV Uncertain significance 902367 GRCh37: 22:44322853-44322853
GRCh38: 22:43926973-43926973
34 PNPLA3 NM_025225.3(PNPLA3):c.235C>T (p.Arg79Trp) SNV Uncertain significance 902368 GRCh37: 22:44322862-44322862
GRCh38: 22:43926982-43926982
35 PNPLA3 NM_025225.3(PNPLA3):c.236G>A (p.Arg79Gln) SNV Uncertain significance 902369 GRCh37: 22:44322863-44322863
GRCh38: 22:43926983-43926983
36 PNPLA3 NM_025225.3(PNPLA3):c.1091C>G (p.Ser364Cys) SNV Uncertain significance 902434 GRCh37: 22:44335984-44335984
GRCh38: 22:43940104-43940104
37 PNPLA3 NM_025225.3(PNPLA3):c.1112+13G>T SNV Uncertain significance 902435 GRCh37: 22:44336018-44336018
GRCh38: 22:43940138-43940138
38 PNPLA3 NM_025225.3(PNPLA3):c.1262C>T (p.Pro421Leu) SNV Uncertain significance 902436 GRCh37: 22:44342078-44342078
GRCh38: 22:43946198-43946198
39 PNPLA3 NM_025225.3(PNPLA3):c.*918G>A SNV Uncertain significance 902513 GRCh37: 22:44343180-44343180
GRCh38: 22:43947300-43947300
40 PNPLA3 NM_025225.3(PNPLA3):c.295T>C (p.Cys99Arg) SNV Uncertain significance 903230 GRCh37: 22:44322922-44322922
GRCh38: 22:43927042-43927042
41 PNPLA3 NM_025225.3(PNPLA3):c.406G>C (p.Asp136His) SNV Uncertain significance 903231 GRCh37: 22:44323033-44323033
GRCh38: 22:43927153-43927153
42 PNPLA3 NM_025225.3(PNPLA3):c.1337C>T (p.Pro446Leu) SNV Uncertain significance 903291 GRCh37: 22:44342153-44342153
GRCh38: 22:43946273-43946273
43 PNPLA3 NM_025225.3(PNPLA3):c.1338G>A (p.Pro446=) SNV Uncertain significance 903292 GRCh37: 22:44342154-44342154
GRCh38: 22:43946274-43946274
44 PNPLA3 NM_025225.3(PNPLA3):c.*1068C>T SNV Uncertain significance 341963 rs746640250 GRCh37: 22:44343330-44343330
GRCh38: 22:43947450-43947450
45 PNPLA3 NM_025225.3(PNPLA3):c.*1175A>C SNV Uncertain significance 341966 rs529050829 GRCh37: 22:44343437-44343437
GRCh38: 22:43947557-43947557
46 PNPLA3 NM_025225.3(PNPLA3):c.*960T>G SNV Uncertain significance 341958 rs886057603 GRCh37: 22:44343222-44343222
GRCh38: 22:43947342-43947342
47 PNPLA3 NM_025225.3(PNPLA3):c.646A>C (p.Thr216Pro) SNV Uncertain significance 341935 rs35726887 GRCh37: 22:44328917-44328917
GRCh38: 22:43933037-43933037
48 PNPLA3 NM_025225.3(PNPLA3):c.-44C>G SNV Uncertain significance 341924 rs773713393 GRCh37: 22:44319748-44319748
GRCh38: 22:43923868-43923868
49 PNPLA3 NM_025225.3(PNPLA3):c.*1076C>T SNV Uncertain significance 341964 rs886057605 GRCh37: 22:44343338-44343338
GRCh38: 22:43947458-43947458
50 PNPLA3 NM_025225.3(PNPLA3):c.1340G>A (p.Arg447Gln) SNV Uncertain significance 341944 rs147289545 GRCh37: 22:44342156-44342156
GRCh38: 22:43946276-43946276

Expression for Fatty Liver Disease, Nonalcoholic 1

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GO Terms for Fatty Liver Disease, Nonalcoholic 1

Sources for Fatty Liver Disease, Nonalcoholic 1

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