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 73 29 6
Fatty Liver Disease, Nonalcoholic, Susceptibility to, 1 57 13
Nafld1 57 73
Non-Alcoholic Fatty Liver Disease 1 73
Steatohepatitis 71
Fatty Liver 71

Characteristics:

OMIM®:

57 (Updated 05-Mar-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 71 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-Mar-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 : 73 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 295)
# Related Disease Score Top Affiliating Genes
1 fatty liver disease 31.7 PRMT7 PNPLA3
2 non-alcoholic fatty liver disease 31.4 PRMT7 PNPLA3 NAFLD1
3 body mass index quantitative trait locus 11 30.4 PRMT7 PNPLA3
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 11.0
17 adrenomyodystrophy 11.0
18 lipodystrophy, congenital generalized, type 1 11.0
19 mitochondrial trifunctional protein deficiency 11.0
20 neutral lipid storage disease with myopathy 11.0
21 lipodystrophy, congenital generalized, type 4 11.0
22 mitochondrial complex iv deficiency, nuclear type 6 11.0
23 lipodystrophy, familial partial, type 5 11.0
24 muscular dystrophy, limb-girdle, autosomal recessive 18 11.0
25 combined oxidative phosphorylation deficiency 16 11.0
26 combined oxidative phosphorylation deficiency 21 11.0
27 microcephaly, developmental delay, and brittle hair syndrome 11.0
28 mitochondrial complex iv deficiency, nuclear type 4 11.0
29 acquired generalized lipodystrophy 11.0
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 fibrosis of extraocular muscles, congenital, 1 10.8
43 hepatitis c 10.8
44 glucose intolerance 10.8
45 hepatitis b 10.8
46 hyperglycemia 10.8
47 hyperinsulinism 10.7
48 hepatitis 10.7
49 hypertriglyceridemia, familial 10.7
50 hepatitis c virus 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-Mar-2021)
Abdomen Liver:
fatty liver (hepatic steatosis), nonalcoholic

Clinical features from OMIM®:

613282 (Updated 05-Mar-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 375)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Angiotensin II Approved, Investigational Phase 4 68521-88-0, 4474-91-3, 11128-99-7 172198
2
Losartan Approved Phase 4 114798-26-4 3961
3
Empagliflozin Approved Phase 4 864070-44-0
4
Atorvastatin Approved Phase 4 134523-00-5 60823
5
Entecavir Approved, Investigational Phase 4 142217-69-4 153941
6
Milk thistle Approved, Experimental, Investigational Phase 4 65666-07-1
7
Glimepiride Approved Phase 4 93479-97-1 3476
8
Simvastatin Approved Phase 4 79902-63-9 54454
9
Amlodipine Approved Phase 4 88150-42-9 2162
10
Perindopril Approved Phase 4 107133-36-8, 82834-16-0 107807
11
Selenium Approved, Investigational, Vet_approved Phase 4 7782-49-2
12
Exenatide Approved, Investigational Phase 4 141758-74-9 15991534
13
Liraglutide Approved Phase 4 204656-20-2 44147092
14
Rifampicin Approved Phase 4 13292-46-1 5458213 5381226
15
Orlistat Approved, Investigational Phase 4 96829-58-2 3034010
16
Insulin detemir Approved Phase 4 169148-63-4 5311023
17
Insulin aspart Approved Phase 4 116094-23-6 16132418
18
Gliclazide Approved Phase 4 21187-98-4 3475
19
Phentermine Approved, Illicit Phase 4 122-09-8 4771
20
Efavirenz Approved, Investigational Phase 4 154598-52-4 64139
21
Alogliptin Approved Phase 4 850649-61-5 11450633
22
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
23
Polyestradiol phosphate Approved Phase 4 28014-46-2
24
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
25
tannic acid Approved Phase 4 1401-55-4
26
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
27
Cetrorelix Approved, Investigational Phase 4 120287-85-6 16129715 25074887
28
Mannitol Approved, Investigational Phase 4 69-65-8 453 6251
29
Tocopherol Approved, Investigational Phase 4 1406-66-2
30
Testosterone undecanoate Approved, Investigational Phase 4 5949-44-0
31
Testosterone enanthate Approved Phase 4 315-37-7 9416
32
Testosterone Approved, Investigational Phase 4 58-22-0 6013
33
Methyltestosterone Approved Phase 4 58-18-4 6010
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
Metformin Approved Phase 4 657-24-9 14219 4091
39
Insulin glargine Approved Phase 4 160337-95-1
40
Rifaximin Approved, Investigational Phase 4 80621-81-4 6436173 46783403
41
Saxagliptin Approved Phase 4 361442-04-8 11243969
42
Peginterferon alfa-2a Approved, Investigational Phase 4 198153-51-4 5360545
43
Ribavirin Approved Phase 4 36791-04-5 37542
44
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 6221 5280795
45
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
46
Calcifediol Approved, Nutraceutical Phase 4 19356-17-3 6433735 5283731
47
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4 59-02-9 14985
48
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
49
Metadoxine Experimental Phase 4 74536-44-0
50
Tenofovir Experimental, Investigational Phase 4 147127-20-6 464205

Interventional clinical trials:

(show top 50) (show all 1045)
# 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 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
5 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
6 Placebo Controlled Study Using Lovaza as Treatment for Non-Alcoholic Fatty Liver Disease Unknown status NCT00941642 Phase 4 Lovaza;placebo control
7 THE EFFECT OF DUAL TREATMENT WITH L-CARNITINE AND MAGNESIUM ON Patients With Non Alcoholic Fatty Liver Disease Unknown status NCT01956825 Phase 4
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 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
10 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
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 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
15 The Effect of Empagliflozin on NAFLD in Asian Patients With Type 2 Diabetes Unknown status NCT02964715 Phase 4 Empagliflozin
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 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
23 Clinical Study Evaluating the Efficacy and Safety of Montelukast in the Treatment of Non-Alcoholic Steatohepatitis (NASH) Completed NCT04537780 Phase 4 Montelukast
24 Orlistat (Xenical) in the Treatment of Overweight Patients With Nonalcoholic Steatohepatitis (NASH) Completed NCT00160407 Phase 4 Orlistat (Xenical)
25 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
26 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
27 Impact of Short-term Fructose-enriched Diet on Serum Metabolome by Normal- and Over-weighed Women. Completed NCT03444233 Phase 4
28 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
29 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
30 Effects of Empagliflozin on Liver Fat Content, Energy Metabolism and Body Composition in Patients With Type 2 Diabetes Completed NCT02637973 Phase 4 Empagliflozin;Placebo
31 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
32 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
33 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
34 PXR-aktivaation Vaikutus Maksan Rasvoittumiseen Completed NCT02329405 Phase 4 Rifampicin;Placebo
35 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
36 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
37 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
38 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
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 MRI Substudy; Metabolic Changes Due to Iatrogenic Hypogonadism in Patients With Prostate Cancer: Orchiectomy vs. Triptorelin Completed NCT02102646 Phase 4 Triptorelin
43 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
44 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
45 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
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 S.P.PRO LIVER POWDER is Used to Improve Liver and Metabolic Indexes in People With Non-alcoholic Fatty Liver Disease Recruiting NCT04718051 Phase 4 Shen Pu Yang Gan Wan;Placebo

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 9942)
# Title Authors PMID Year
1
Inflammasome-mediated dysbiosis regulates progression of NAFLD and obesity. 57 61
22297845 2012
2
Prevalence of hepatic steatosis in an urban population in the United States: impact of ethnicity. 61 57
15565570 2004
3
NAFLD causes selective CD4(+) T lymphocyte loss and promotes hepatocarcinogenesis. 57
26934227 2016
4
Human fatty liver disease: old questions and new insights. 57
21700865 2011
5
Variant in PNPLA3 is associated with alcoholic liver disease. 57
19946271 2010
6
Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease. 57
18820647 2008
7
Ethnic differences in the prevalence of cryptogenic cirrhosis. 57
15046220 2004
8
Urantide decreases hepatic steatosis in rats with experimental atherosclerosis via the MAPK/Erk/JNK pathway. 61
33604686 2021
9
Beinaglutide shows significantly beneficial effects in diabetes/obesity-induced nonalcoholic steatohepatitis in ob/ob mouse model. 61
33482185 2021
10
Hepatic Ago2 Regulates PPARα for Oxidative Metabolism Linked to Glycemic Control in Obesity and Post Bariatric Surgery. 61
33567453 2021
11
Inhibition of fatty acid synthase with FT-4101 safely reduces hepatic de novo lipogenesis and steatosis in obese subjects with non-alcoholic fatty liver disease: Results from two early-phase randomized trials. 61
33289350 2021
12
Parameter estimation of the homodyned K distribution based on an artificial neural network for ultrasound tissue characterization. 61
33290957 2021
13
Hepatoprotection by Ginsenoside Rg1 in alcoholic liver disease. 61
33412392 2021
14
Exercise suppresses NLRP3 inflammasome activation in mice with diet-induced NASH: a plausible role of adropin. 61
33268842 2021
15
NUPR1 protects liver from lipotoxic injury by improving the endoplasmic reticulum stress response. 61
33566371 2021
16
Visceral adipose tissue-directed FGF21 gene therapy improves metabolic and immune health in BTBR mice. 61
33575433 2021
17
Bile acids profile, histopathological indices and genetic variants for non-alcoholic fatty liver disease progression. 61
33275980 2021
18
Association between environmental exposure to cadmium and risk of suspected non-alcoholic fatty liver disease. 61
33220986 2021
19
Performance Characteristics, Intra- and Inter-operator Agreement of Transient Elastography in Pediatric Nonalcoholic Fatty Liver Disease. 61
33230078 2021
20
Characterization and hypoglycemic effects of sulfated polysaccharides derived from brown seaweed Undaria pinnatifida. 61
33038776 2021
21
Novel GYS2 mutations in a Japanese patient with glycogen storage disease type 0a. 61
33489759 2021
22
Polyphenols of cambuci (Campomanesia phaea (O. Berg.)) fruit ameliorate insulin resistance and hepatic steatosis in obese mice. 61
33007695 2021
23
Mitophagy-mediated adipose inflammation contributes to type 2 diabetes with hepatic insulin resistance. 61
33315085 2021
24
Metformin dose increase versus added linagliptin in non-alcoholic fatty liver disease and type 2 diabetes: An analysis of the J-LINK study. 61
33236464 2021
25
Utility of quantitative ultrasound in community screening for hepatic steatosis. 61
33338730 2021
26
Icaritin ameliorates hepatic steatosis via promoting fatty acid β-oxidation and insulin sensitivity. 61
33417961 2021
27
Accuracy of controlled attenuation parameter compared with ultrasound for detecting hepatic steatosis in children with severe obesity. 61
32910234 2021
28
SR-BI deficiency disassociates obesity from hepatic steatosis and glucose intolerance development in high fat diet-fed mice. 61
33321184 2021
29
Sirtuin 6 supra-physiological overexpression in hypothalamic pro-opiomelanocortin neurons promotes obesity via the hypothalamus-adipose axis. 61
33583107 2021
30
CAP for the detection of hepatic steatosis in clinical practice. 61
33460568 2021
31
Assessment of hepatic steatosis by controlled attenuation parameter using the M and XL probes: an individual patient data meta-analysis. 61
33460567 2021
32
Optimal thresholds for ultrasound attenuation parameter in the evaluation of hepatic steatosis severity: evidence from a cohort of patients with biopsy-proven fatty liver disease. 61
32398489 2021
33
Quercetin mitigates ethanol-induced hepatic steatosis in zebrafish via P2X7R-mediated PI3K/ Keap1/Nrf2 signaling pathway. 61
33186701 2021
34
Postnatal exposure to DINP was associated with greater alterations of lipidomic markers for hepatic steatosis than DEHP in postweaning mice. 61
33223173 2021
35
Clinical Feasibility of Quantitative Ultrasound Imaging for Suspected Hepatic Steatosis: Intra- and Inter-examiner Reliability and Correlation with Controlled Attenuation Parameter. 61
33277108 2021
36
Leukocyte cell-derived chemotaxin 2 promotes the development of nonalcoholic fatty liver disease through STAT-1 pathway in mice. 61
33555112 2021
37
Diagnostic Performance of Vibration-Controlled Transient Elastography in Liver Transplant Recipients. 61
32272251 2021
38
Bariatric Surgery in Nonalcoholic Fatty Liver Disease (NAFLD): Impact Assessment Using Paired Liver Biopsy and Fibroscan. 61
33052552 2021
39
A meta-analysis on the diagnostic performance of magnetic resonance imaging and transient elastography in nonalcoholic fatty liver disease. 61
33128454 2021
40
β-patchoulene improves lipid metabolism to alleviate non-alcoholic fatty liver disease via activating AMPK signaling pathway. 61
33341045 2021
41
What is the optimal lipid emulsion for preventing intestinal failure-associated liver disease following parenteral feeding in a rat model of short-bowel syndrome? 61
33388967 2021
42
Puerariae Lobatae radix flavonoids and puerarin alleviate alcoholic liver injury in zebrafish by regulating alcohol and lipid metabolism. 61
33341668 2021
43
Circulatory microRNAs as potential biomarkers for fatty liver disease: the Rotterdam study. 61
33244812 2021
44
Cannabis use and reduced risk of elevated fatty liver index in HIV-HCV co-infected patients: a longitudinal analysis (ANRS CO13 HEPAVIH). 61
33538612 2021
45
Embryonic exposures to mono-2-ethylhexyl phthalate induce larval steatosis in zebrafish independent of Nrf2a signaling. 61
32063256 2021
46
ER stress-induced adipocytes secrete-aldo-keto reductase 1B7-containing exosomes that cause nonalcoholic steatohepatitis in mice. 61
33359683 2021
47
Continuous Positive Airway Pressure Does Not Improve Nonalcoholic Fatty Liver Disease in Patients with Obstructive Sleep Apnea. A Randomized Clinical Trial. 61
32926803 2021
48
Influence of a Biotechnologically Produced Oyster Mushroom (Pleurotus sajor-caju) on the Gut Microbiota and Microbial Metabolites in Obese Zucker Rats. 61
33497213 2021
49
Cordycepin Ameliorates Nonalcoholic Steatohepatitis via Activation of AMP-Activated Protein Kinase Signaling Pathway. 61
33576035 2021
50
Inhibition of PAI-1 Promotes Lipolysis and Enhances Weight Loss in Obese Mice. 61
33594826 2021

Variations for Fatty Liver Disease, Nonalcoholic 1

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

6 (show top 50) (show all 86)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PNPLA3 NM_025225.3(PNPLA3):c.444C>G (p.Ile148Met) SNV Benign, risk factor 341932 rs738409 22:44324727-44324727 22:43928847-43928847
2 PRMT7 NM_019023.5(PRMT7):c.1713C>A (p.Cys571Ter) SNV Pathogenic 523434 rs1251713297 16:68389688-68389688 16:68355785-68355785
3 PRMT7 NM_019023.5(PRMT7):c.322G>T (p.Glu108Ter) SNV Pathogenic 523435 rs1014959895 16:68363008-68363008 16:68329105-68329105
4 PNPLA3 NM_025225.3(PNPLA3):c.64del (p.His22fs) Deletion Uncertain significance 631896 rs765529904 22:44319854-44319854 22:43923974-43923974
5 PNPLA3 NM_025225.3(PNPLA3):c.283C>T (p.Arg95Ter) SNV Uncertain significance 631897 rs753837923 22:44322910-44322910 22:43927030-43927030
6 PNPLA3 NM_025225.3(PNPLA3):c.1186C>T (p.Arg396Ter) SNV Uncertain significance 631898 rs764895790 22:44340644-44340644 22:43944764-43944764
7 PNPLA3 NM_025225.3(PNPLA3):c.*141T>G SNV Uncertain significance 341951 rs886057602 22:44342403-44342403 22:43946523-43946523
8 MT-TL1 NC_012920.1:m.3275C>T SNV Uncertain significance 370045 rs1057516057 MT:3275-3275 MT:3275-3275
9 OPA1 NM_001354663.2(OPA1):c.-260_-243del Deletion Uncertain significance 214916 rs863224140 3:193332587-193332604 3:193614798-193614815
10 PNPLA3 NM_025225.3(PNPLA3):c.917G>A (p.Arg306His) SNV Uncertain significance 900761 22:44333090-44333090 22:43937210-43937210
11 PNPLA3 NM_025225.3(PNPLA3):c.950T>A (p.Leu317Gln) SNV Uncertain significance 900762 22:44333123-44333123 22:43937243-43937243
12 PNPLA3 NM_025225.3(PNPLA3):c.*448C>T SNV Uncertain significance 900835 22:44342710-44342710 22:43946830-43946830
13 PNPLA3 NM_025225.3(PNPLA3):c.*760T>C SNV Uncertain significance 900836 22:44343022-44343022 22:43947142-43947142
14 PNPLA3 NM_025225.3(PNPLA3):c.*812A>G SNV Uncertain significance 900837 22:44343074-44343074 22:43947194-43947194
15 PNPLA3 NM_025225.3(PNPLA3):c.82T>C (p.Cys28Arg) SNV Uncertain significance 902366 22:44319873-44319873 22:43923993-43923993
16 PNPLA3 NM_025225.3(PNPLA3):c.226G>A (p.Ala76Thr) SNV Uncertain significance 902367 22:44322853-44322853 22:43926973-43926973
17 PNPLA3 NM_025225.3(PNPLA3):c.235C>T (p.Arg79Trp) SNV Uncertain significance 902368 22:44322862-44322862 22:43926982-43926982
18 PNPLA3 NM_025225.3(PNPLA3):c.236G>A (p.Arg79Gln) SNV Uncertain significance 902369 22:44322863-44322863 22:43926983-43926983
19 PNPLA3 NM_025225.3(PNPLA3):c.484G>A (p.Val162Met) SNV Uncertain significance 899623 22:44324767-44324767 22:43928887-43928887
20 PNPLA3 NM_025225.3(PNPLA3):c.494T>C (p.Val165Ala) SNV Uncertain significance 899624 22:44328765-44328765 22:43932885-43932885
21 PNPLA3 NM_025225.3(PNPLA3):c.557C>A (p.Pro186His) SNV Uncertain significance 899625 22:44328828-44328828 22:43932948-43932948
22 PNPLA3 NM_025225.3(PNPLA3):c.599C>T (p.Thr200Met) SNV Uncertain significance 899626 22:44328870-44328870 22:43932990-43932990
23 PNPLA3 NM_025225.3(PNPLA3):c.617A>C (p.Asp206Ala) SNV Uncertain significance 899627 22:44328888-44328888 22:43933008-43933008
24 PNPLA3 NM_025225.3(PNPLA3):c.*176G>A SNV Uncertain significance 899690 22:44342438-44342438 22:43946558-43946558
25 PNPLA3 NM_025225.3(PNPLA3):c.*222G>A SNV Uncertain significance 899691 22:44342484-44342484 22:43946604-43946604
26 PNPLA3 NM_025225.3(PNPLA3):c.*346G>A SNV Uncertain significance 899693 22:44342608-44342608 22:43946728-43946728
27 PNPLA3 NC_000022.11:g.43923732C>T SNV Uncertain significance 900686 22:44319612-44319612 22:43923732-43923732
28 PNPLA3 NC_000022.11:g.43923781C>G SNV Uncertain significance 900687 22:44319661-44319661 22:43923781-43923781
29 PNPLA3 NC_000022.11:g.43923804T>C SNV Uncertain significance 900688 22:44319684-44319684 22:43923804-43923804
30 PNPLA3 NM_025225.3(PNPLA3):c.-69T>C SNV Uncertain significance 900689 22:44319723-44319723 22:43923843-43923843
31 PNPLA3 NM_025225.3(PNPLA3):c.696+12G>A SNV Uncertain significance 900756 22:44328979-44328979 22:43933099-43933099
32 PNPLA3 NM_025225.3(PNPLA3):c.697-5C>A SNV Uncertain significance 900757 22:44330481-44330481 22:43934601-43934601
33 PNPLA3 NM_025225.3(PNPLA3):c.697-4A>T SNV Uncertain significance 900758 22:44330482-44330482 22:43934602-43934602
34 PNPLA3 NM_025225.3(PNPLA3):c.711A>G (p.Ile237Met) SNV Uncertain significance 900759 22:44330500-44330500 22:43934620-43934620
35 PNPLA3 NM_025225.3(PNPLA3):c.*1068C>T SNV Uncertain significance 341963 rs746640250 22:44343330-44343330 22:43947450-43947450
36 PNPLA3 NM_025225.3(PNPLA3):c.*1175A>C SNV Uncertain significance 341966 rs529050829 22:44343437-44343437 22:43947557-43947557
37 PNPLA3 NM_025225.3(PNPLA3):c.*960T>G SNV Uncertain significance 341958 rs886057603 22:44343222-44343222 22:43947342-43947342
38 PNPLA3 NM_025225.3(PNPLA3):c.646A>C (p.Thr216Pro) SNV Uncertain significance 341935 rs35726887 22:44328917-44328917 22:43933037-43933037
39 PNPLA3 NM_025225.3(PNPLA3):c.-44C>G SNV Uncertain significance 341924 rs773713393 22:44319748-44319748 22:43923868-43923868
40 PNPLA3 NM_025225.3(PNPLA3):c.*1076C>T SNV Uncertain significance 341964 rs886057605 22:44343338-44343338 22:43947458-43947458
41 PNPLA3 NM_025225.3(PNPLA3):c.1340G>A (p.Arg447Gln) SNV Uncertain significance 341944 rs147289545 22:44342156-44342156 22:43946276-43946276
42 PNPLA3 NM_025225.3(PNPLA3):c.1419C>T (p.Pro473=) SNV Uncertain significance 341947 rs376208148 22:44342235-44342235 22:43946355-43946355
43 PNPLA3 NM_025225.3(PNPLA3):c.980-14A>C SNV Uncertain significance 341939 rs781212740 22:44335859-44335859 22:43939979-43939979
44 PNPLA3 NM_025225.3(PNPLA3):c.*990T>A SNV Uncertain significance 341962 rs886057604 22:44343252-44343252 22:43947372-43947372
45 PNPLA3 NM_025225.3(PNPLA3):c.*19T>G SNV Uncertain significance 341948 rs569255289 22:44342281-44342281 22:43946401-43946401
46 PNPLA3 NM_025225.3(PNPLA3):c.*71T>G SNV Uncertain significance 341950 rs886057601 22:44342333-44342333 22:43946453-43946453
47 PNPLA3 NM_025225.3(PNPLA3):c.1209C>T (p.Pro403=) SNV Uncertain significance 341942 rs184910573 22:44340667-44340667 22:43944787-43944787
48 PNPLA3 NM_025225.3(PNPLA3):c.414C>T (p.Val138=) SNV Uncertain significance 341931 rs768191646 22:44323041-44323041 22:43927161-43927161
49 PNPLA3 NM_025225.3(PNPLA3):c.1091C>G (p.Ser364Cys) SNV Uncertain significance 902434 22:44335984-44335984 22:43940104-43940104
50 PNPLA3 NM_025225.3(PNPLA3):c.1112+13G>T SNV Uncertain significance 902435 22:44336018-44336018 22:43940138-43940138

Expression for Fatty Liver Disease, Nonalcoholic 1

Search GEO for disease gene expression data for Fatty Liver Disease, Nonalcoholic 1.

Pathways for Fatty Liver Disease, Nonalcoholic 1

GO Terms for Fatty Liver Disease, Nonalcoholic 1

Sources for Fatty Liver Disease, Nonalcoholic 1

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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