Lipid Storage Disease

Categories: Immune diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Lipid Storage Disease

MalaCards integrated aliases for Lipid Storage Disease:

Name: Lipid Storage Disease 12 58 15
Lipoidosis 12 70
Inborn Lipid Storage Disorder 12
Lipid Storage Diseases 53
Lipoid Storage Diseas 12
Lipidoses 44


Orphanet: 58  
Inborn errors of metabolism

External Ids:

Disease Ontology 12 DOID:9455
ICD9CM 34 272.7 272.8
MeSH 44 D008064
SNOMED-CT 67 11455007 154744007
ICD10 32 E75.6
ICD10 via Orphanet 33 E75.5 E75.6
Orphanet 58 ORPHA79204
UMLS 70 C0023794 C0029591

Summaries for Lipid Storage Disease

NINDS : 53 Lipid storage diseases are a group of inherited metabolic disorders in which harmful amounts of fatty materials (lipids) accumulate in various tissues and cells in the body.  Lipids are important parts of the myelin sheath that coats and protects the nerves.  Over time, this excessive storage of fats can cause permanent damage to cells and tissues in the brain and peripheral nervous system, and in other parts of the body.  Symptoms may appear early in life or develop in the teen or even adult years.  Neurological complications of the lipid storage diseases may include: lack of muscle coordination, brain degeneration, seizures, loss of muscle tone, learning problems, spasticity, feeding and swallowing difficulties, slurred speech, increased sensitivity to touch, pain in the arms and legs, and clouding of the cornea.

MalaCards based summary : Lipid Storage Disease, also known as lipoidosis, is related to farber lipogranulomatosis and fatty liver disease. An important gene associated with Lipid Storage Disease is PNPLA2 (Patatin Like Phospholipase Domain Containing 2), and among its related pathways/superpathways are Metabolism and MicroRNAs in cancer. The drugs Bezafibrate and Clofibric Acid have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, spleen and bone, and related phenotype is liver/biliary system.

Disease Ontology : 12 A lysosomal storage disease that involves the accumulation of harmful amounts of lipids (fats) in some of the body's cells and tissues.

Wikipedia : 73 A lipid storage disorder (or lipidosis) is any one of a group of inherited metabolic disorders in which... more...

Related Diseases for Lipid Storage Disease

Diseases related to Lipid Storage Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 281)
# Related Disease Score Top Affiliating Genes
1 farber lipogranulomatosis 32.7 SMPD2 PSAP GALC
2 fatty liver disease 32.5 SREBF1 MIR122 INS GPT
3 lysosomal and lipase deficiency 32.5 PNPLA2 LIPA ABHD5
4 sphingolipidosis 32.4 SMPD2 PSAP LIPA H2AC18 GLA GBA
5 fabry disease 32.3 PSAP GLA GBA
6 gaucher's disease 31.1 PSAP LIPA GLA GBA GALC
7 gm2 gangliosidosis 30.9 PSAP GLA GBA CLN3
8 lysosomal acid lipase deficiency 30.9 PNPLA2 LIPA ABHD5
9 niemann-pick disease 30.8 SMPD2 PSAP LIPA GLA GBA GALC
10 non-alcoholic fatty liver disease 30.8 SREBF1 MIR21 MIR199A1 MIR155 MIR122 LIPA
11 krabbe disease 30.7 PSAP GLA GBA GALC
12 gm1 gangliosidosis 30.7 PSAP GLA GBA GALC CLN3
13 metachromatic leukodystrophy 30.6 PSAP INS GLA GALC
14 lysosomal disease 30.6 GBA GALC
15 tay-sachs disease 30.6 PSAP GLA GBA CLN3
16 familial hyperlipidemia 30.6 SREBF1 LIPA INS GPT GBA
17 familial hypercholesterolemia 30.6 SREBF1 LIPA INS H2AC18 GPT
18 arteriosclerosis 30.5 MIR21 MIR155 INS GPT
19 demyelinating disease 30.5 MIR155 H2AC18 GALC CCR6
20 overnutrition 30.4 SREBF1 PNPLA2 MIR21 MIR199A1 MIR155 MIR122
21 inherited metabolic disorder 30.3 SREBF1 MIR21 MIR199A1 MIR155 MIR122 LIPA
22 lysosomal storage disease 30.2 SREBF1 PSAP MIR21 MIR199A1 MIR192 MIR122
23 neutral lipid storage disease with myopathy 12.0
24 chanarin-dorfman syndrome 11.9
25 cerebrotendinous xanthomatosis 11.3
26 triglyceride deposit cardiomyovasculopathy 11.3
27 xanthomatosis 11.1
28 cholesterol ester storage disease 11.1
29 niemann-pick disease, type c1 11.1
30 myoclonus 11.1
31 adrenoleukodystrophy 11.1
32 mucolipidosis 11.1
33 lipidosis with triglycerid storage disease 11.1
34 lipoid proteinosis of urbach and wiethe 11.0
35 retinal dystrophy in systemic or cerebroretinal lipidoses 11.0
36 myopathy 10.7
37 infantile krabbe disease 10.6 PSAP GALC
38 mucopolysaccharidosis iv 10.6 LIPA GLA GBA GALC
39 mucopolysaccharidosis, type iva 10.6 LIPA GLA GALC
40 nasopharyngitis 10.5 INS GPT CCR6
41 microvascular complications of diabetes 3 10.5 MIR21 MIR192 INS
42 hepatic vascular disease 10.5 MIR199A1 INS GPT CCR6
43 extrinsic cardiomyopathy 10.5 MIR21 MIR199A1 H2AC18 CCR6
44 mucopolysaccharidosis, type vi 10.5 GLA GBA GALC
45 intrinsic cardiomyopathy 10.5 MIR21 MIR199A1 MIR122 H2AC18
46 mucopolysaccharidosis iii 10.5 LIPA GBA GALC CLN3
47 scheie syndrome 10.5 GLA GBA GALC CLN3
48 male reproductive system disease 10.5 MIR21 MIR199A1 H2AC18 CCR6
49 cellulitis 10.5 INS GPT CCR6
50 acute cystitis 10.5 INS H2AC18 GPT CCR6

Comorbidity relations with Lipid Storage Disease via Phenotypic Disease Network (PDN):

Hypertension, Essential

Graphical network of the top 20 diseases related to Lipid Storage Disease:

Diseases related to Lipid Storage Disease

Symptoms & Phenotypes for Lipid Storage Disease

MGI Mouse Phenotypes related to Lipid Storage Disease:

# Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 9.36 ABHD5 CLN3 CYP27A1 GALC GBA GLA

Drugs & Therapeutics for Lipid Storage Disease

Drugs for Lipid Storage Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 41)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Bezafibrate Approved, Investigational Phase 4 41859-67-0 39042
2 Clofibric Acid Phase 4 882-09-7
Simvastatin Approved Phase 3 79902-63-9 54454
Nicotinamide Approved, Investigational Phase 3 98-92-0 936
Atorvastatin Approved Phase 3 134523-00-5 60823
Niacin Approved, Investigational, Nutraceutical Phase 3 59-67-6 938
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
Torcetrapib Investigational Phase 3 262352-17-0 159325
9 Vitamin B3 Phase 3
10 Nicotinic Acids Phase 3
11 Micronutrients Phase 3
12 Vitamin B9 Phase 3
13 Trace Elements Phase 3
14 Nutrients Phase 3
15 Vasodilator Agents Phase 3
16 Vitamin B Complex Phase 3
17 Folate Phase 3
18 Vitamins Phase 3
19 Pharmaceutical Solutions Phase 2, Phase 3
20 Hypolipidemic Agents Phase 3
21 Antimetabolites Phase 3
22 Lipid Regulating Agents Phase 3
23 Anticholesteremic Agents Phase 3
24 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 3
Ezetimibe Approved Phase 2 163222-33-1 150311
Eliglustat Approved Phase 2 491833-29-5 23652731
27 Gamma-sitosterol Phase 2
28 Phytosterol Phase 2
Calcium polycarbophil Approved 126040-58-2
30 Barley Approved
31 Fenofibric acid Approved 42017-89-0
Infliximab Approved 170277-31-3
Azathioprine Approved 446-86-6 2265
34 Soy Bean
35 Psyllium
36 Gastrointestinal Agents
37 Antirheumatic Agents
38 Immunosuppressive Agents
39 Immunologic Factors
40 Eicosapentaenoic acid ethyl ester
41 Dermatologic Agents

Interventional clinical trials:

(show all 26)
# Name Status NCT ID Phase Drugs
1 The Effect of Fibrate Therapy in Two Patients With Neutral Lipid Storage Disease With Myopathy (NLSDM) Completed NCT01527318 Phase 4 Fibrate treatment
2 A Phase IV, Multicenter, Randomized, Dose Frequency Study of the Safety and Efficacy of Cerezyme® Infusions Every Four Weeks Versus Every Two Weeks in the Maintenance Therapy of Patients With Type 1 Gaucher Disease Completed NCT00364858 Phase 4 Cerezyme
3 A Multicenter Study of the Efficacy of Cerezyme in Testing Skeletal Disease in Patients With Type I Gaucher Disease. Completed NCT00365131 Phase 4 Cerezyme (imiglucerase for injection)
4 An 8-Week, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate Daily Pro-Omega LDL for Low-Density Lipoprotein Cholesterol and Triglyceride Reduction in Subjects With Mixed Hyperlipoproteinemia Withdrawn NCT02069106 Phase 4
5 A Multicenter, Randomized, Double-Blind, Parallel Group, 12 Week Study to Evaluate the Efficacy and Safety of MK0524B Versus Atorvastatin in Patients With Mixed Hyperlipidemia Completed NCT00289900 Phase 3 MK-0524A;Atorvastatin;Simvastatin
6 A Multicenter, Randomized, Double-Blind, "Factorial" Design Study to Evaluate the Lipid-Altering Efficacy and Safety of Coadministered MK0524B Tablets in Patients With Primary Hypercholesterolemia or Mixed Hyperlipidemia Completed NCT00269217 Phase 3 niacin (+) laropiprant (+) simvastatin;Comparator: niacin (+) laropiprant;Comparator: simvastatin
7 A Worldwide, Multicenter, Double-Blind, Randomized, Parallel, Placebo-Controlled Study to Evaluate the Lipid-Altering Efficacy, Safety and Tolerability of MK0524A in Patients With Primary Hypercholesterolemia or Mixed Hyperlipidemia Completed NCT00269204 Phase 3 niacin (+) laropiprant;ER-niacin
8 A Phase 2/3, Multicenter, Randomized, Double-blinded, Placebo-controlled, Repeat-dose Study to Evaluate the Efficacy, Safety, Pharmacodynamics, and Pharmacokinetics of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency Active, not recruiting NCT02004691 Phase 2, Phase 3 placebo (saline);GZ402665
9 Phase 3 Multi-Center, Double-Blind, Randomized, Parallel Group, Carotid B-mode Ultrasound Evaluation of the Anti-Atherosclerotic Efficacy, Safety, and Tolerability of Fixed Combination CP-529,414/Atorvastatin, Administered Orally, Once Daily (QD) for 24 Months, Compared With Atorvastatin Alone, in Subjects With Mixed Hyperlipidemia Terminated NCT00134238 Phase 3 torcetrapib/atorvastatin;atorvastatin
10 A Phase II, Double-Blind, Placebo-Controlled, Randomized Study of the Effects of a Lipid Emulsion (Lipidose) on Endotoxin Levels in Patients on Chronic Hemodialysis Completed NCT00506454 Phase 2 Lipidose;Placebo
11 A Multicenter, Randomized, Double-Blind, Placebo-Controlled, Study to Evaluate SCH-58235 in Homozygous Sitosterolemia Completed NCT00045812 Phase 2 SCH-58235
12 A Phase 2 Randomized, Double-Blind, Dose-Response Efficacy and Safety Study of SCH 900271 Compared to Placebo in Subjects With Primary Hypercholesterolemia (Familial and Nonfamilial) or Mixed Hyperlipidemia Completed NCT00941603 Phase 2 SCH 900271 15mg;SCH 900271;SCH 900271;SCH 900271;SCH 900271;Placebo
13 A Phase 1/2, Multi-Center, Open-Label, Ascending Dose Study to Evaluate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Exploratory Efficacy of Olipudase Alfa in Pediatric Patients Aged <18 Years With Acid Sphingomyelinase Deficiency Completed NCT02292654 Phase 1, Phase 2 Olipudase alfa
14 A Phase 2, Open-Label, Multi-Center Study Evaluating the Efficacy, Safety and Pharmacokinetics of Genz-112638 in Gaucher Type 1 Patients Completed NCT00358150 Phase 2 Eliglustat tartrate
15 A Long-Term Study to Assess the Ongoing Safety and Efficacy of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency Active, not recruiting NCT02004704 Phase 2 GZ402665
16 International Registry Study of Neutral Lipid Storage Disease (NLSD) / Triglyceride Deposit Cardiomyovasculopathy (TGCV) and Related Diseases Unknown status NCT02918032
17 DASH Dietary Pattern and Cardiometabolic Risk: An Umbrella Review of Systematic Reviews and Meta-analyses of Prospective Cohort Studies and Randomized and Non-randomized Controlled Trials Unknown status NCT03542370
18 Effect of a Portfolio Dietary Pattern on Cardiometabolic Risk: A Systematic Review and Meta-analysis of Controlled Trials Unknown status NCT03534414
19 Comparison of the Efficacy and AtorVastatin 20mg mOnotherapy Versus Combination Atorvastatin/Fenofibric Acid 10/135mg in the Mixed hyperlipiDemia Who Were Not at Lipid gOals With Atorvastatin 10mg Monotherapy. Unknown status NCT01974297 Atorvastatin 10mg, fenofibric acid 135mg;atorvastatin 20mg
20 Gaucher Disease Registry Protocol Recruiting NCT00358943
21 Let's Get to Know Your Health Better? Assessment of Lifestyle, Blood Pressure and Cholesterol in the Population of Employees Libbs Farmacêutica LTDA. Recruiting NCT04373863
22 A Prospective and Retrospective Cohort Study to Refine and Expand the Knowledge on Patients With Chronic Forms of Acid Sphingomyelinase Deficiency (ASMD) Recruiting NCT04106544
23 Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy Active, not recruiting NCT02635269
24 The Investigation of Daily Living Activities and Exercise Capacity in Lipid Storage Diseases Not yet recruiting NCT03875105
25 N-3 Polyunsaturated Fatty Acids Prevent Postoperative Recurrence of Crohn's Disease:a Prospective Randomized Controlled Trial Not yet recruiting NCT04761952 azathioprine;infliximab;N-3 Polyunsaturated Fatty Acids
26 Clinical Study on the Safety and Efficacy of Medium-chain Fatty Acid Capsules (CNT-02) for Primary Triglyceride Deposit Cardiomyovasculopathy (TGCV) and Neutral Lipid Storage Disease With Myopathy (NLSD-M) Terminated NCT02830763

Search NIH Clinical Center for Lipid Storage Disease

Cochrane evidence based reviews: lipidoses

Genetic Tests for Lipid Storage Disease

Anatomical Context for Lipid Storage Disease

MalaCards organs/tissues related to Lipid Storage Disease:

Bone Marrow, Spleen, Bone, Liver, Eye, Heart, Kidney

Publications for Lipid Storage Disease

Articles related to Lipid Storage Disease:

(show top 50) (show all 536)
# Title Authors PMID Year
Patients with cerebrotendinous xanthomatosis diagnosed with diverse multisystem involvement. 61
33704661 2021
ApoB-Specific CD4+ T Cells in Mouse and Human Atherosclerosis. 61
33669769 2021
Cholestasis as a dominating symptom of patients with CYP27A1 mutations: An analysis of 17 Chinese infants. 61
33414089 2021
Early onset neutral lipid storage disease with myopathy presenting as congenital hypotonia and hepatomegaly. 61
33303358 2021
A novel PNPLA2 mutation causing total loss of RNA and protein expression in two NLSDM siblings with early onset but slowly progressive severe myopathy. 61
33569515 2021
The microscopic anatomy of endothelial cells in human atherosclerosis: Focus on ER and mitochondria. 61
32735733 2020
Neutral lipid-storage disease with myopathy and Jordan anomaly. 61
32759194 2020
Ultrastructure of spinal anterior horn cells in human Niemann-Pick type C (NPC) patient and mouse model of NPC with retroposon insertion in NPC1 genes. 61
32342600 2020
Levitating Cells to Sort the Fit and the Fat. 61
32352239 2020
Next-generation sequencing through multi-gene panel testing for diagnosis of hereditary ichthyosis in Chinese. 61
31953843 2020
Cholesterol Transport in Wild-Type NPC1 and P691S: Molecular Dynamics Simulations Reveal Changes in Dynamical Behavior. 61
32331453 2020
Atherosclerosis: Beyond the lipid storage hypothesis. The role of autoimmunity. 61
31868918 2020
MiRNAs as biomarkers of phenotype in neutral lipid storage disease with myopathy. 61
31729045 2020
Case Report: PNPLA2 Gene Complex Heterozygous Mutation Leading to Neutral Lipid Storage Disease With Myopathy. 61
33551761 2020
Neutral Lipid Storage Disease Associated with the PNPLA2 Gene: Case Report and Literature Review. 61
32564019 2020
Recent Advances in the Critical Role of the Sterol Efflux Transporters ABCG5/G8 in Health and Disease. 61
32705597 2020
Neutral lipid storage disease with myopathy presenting asymmetrical muscle weakness: a case report. 61
32269696 2020
CGI-58: Versatile Regulator of Intracellular Lipid Droplet Homeostasis. 61
32705602 2020
Anti-inflammatory therapy in atherosclerosis. 61
31585888 2020
Evaluating modified diets and dietary supplement therapies for reducing muscle lipid accumulation and improving muscle function in neurofibromatosis type 1 (NF1). 61
32810864 2020
Clinical and genetic characteristics of Chinese patients with cerebrotendinous xanthomatosis. 61
31796091 2019
[The value of muscle biopsy in rhabdomyolysis]. 61
31775453 2019
The lipid droplet-associated protein ABHD5 protects the heart through proteolysis of HDAC4. 61
31742248 2019
Neutral lipid storage disease with myopathy in China: a large multicentric cohort study. 61
31655616 2019
Gallbladder Papilloma in a Child Unmasking Metachromatic Leukodystrophy: A Case Report With Review of Literature. 61
30912695 2019
Clinical findings and autophagic pathology in neutral lipid storage disease with myopathy. 61
30738494 2019
A case of Niemann-Pick disease type C with neonatal liver failure initially diagnosed as neonatal hemochromatosis. 61
30737051 2019
Activated mTOR signaling pathway in myofibers with inherited metabolic defect might be an evidence for mTOR inhibition therapies. 61
30897595 2019
Neutral Lipid Storage Diseases as Cellular Model to Study Lipid Droplet Function. 61
30795549 2019
Coexistence or a related condition: an infant with retinoblastoma and Gaucher disease. 61
31916728 2019
Optic Neuropathy with Features Suggestive of Optic Neuritis in Cerebrotendinous Xanthomatosis. 61
30891321 2019
Neutral lipid storage disease with myopathy and dropped head syndrome. Report of a new variant susceptible of treatment with late diagnosis. 61
30352762 2018
Pulmonary functions and sleep-related breathing disorders in lipid storage disease. 61
29497949 2018
Excessive dietary lipid intake provokes an acquired form of lysosomal lipid storage disease in the kidney. 61
30073645 2018
Lipid storage myopathies: Current treatments and future directions. 61
30099045 2018
Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect. 61
30285904 2018
Novel PNPLA2 gene mutation in a child causing neutral lipid storage disease with myopathy. 61
30223778 2018
Neutral lipid storage disease with myopathy: Further phenotypic characterization of a rare PNPLA2 variant. 61
29779757 2018
Lysosomal Acid Lipase Deficiency, a Rare Pathology: The First Pediatric Patient Reported in Colombia. 61
29884776 2018
Patients with neutral lipid storage disease with myopathy (NLSDM) in Southwestern China. 61
29539587 2018
Teaching NeuroImages: Cerebrotendinous xanthomatosis: A rare treatable adult-onset lipid storage disease. 61
29440550 2018
Rapid screening for lipid storage disorders using biochemical markers. Expert center data and review of the literature. 61
29290526 2018
Dietary intervention rescues myopathy associated with neurofibromatosis type 1. 61
29228356 2018
Lipid metabolism and carcinogenesis, cancer development. 61
29888102 2018
Cerebrotendinous xanthomatosis: early diagnosis on the basis of juvenile cataracts. 61
29079218 2017
The phospholipase PNPLA7 functions as a lysophosphatidylcholine hydrolase and interacts with lipid droplets through its catalytic domain. 61
28887301 2017
Role of Cytology in Early Diagnosis of Cerebrotendinous Xanthomas. 61
29118481 2017
Aberrant activation of Cdc2/cyclin B1 is involved in initiation of cytoskeletal pathology in murine Niemann-Pick disease type C. 61
29058287 2017
Clinical and molecular genetic features of cerebrotendinous xanthomatosis patients in Chinese families. 61
28623566 2017
Bilateral Femoral Neck Fractures in Cerebrotendinous Xanthomatosis Treated by Hip Arthroplasties: The First Case Report and Literature Review. 61
29242796 2017

Variations for Lipid Storage Disease

Expression for Lipid Storage Disease

Search GEO for disease gene expression data for Lipid Storage Disease.

Pathways for Lipid Storage Disease

Pathways related to Lipid Storage Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
Show member pathways
2 12.05 MIR21 MIR199A1 MIR192 MIR155 MIR122
Show member pathways
5 11.19 PNPLA2 INS ABHD5
6 10.57 INS GPT

GO Terms for Lipid Storage Disease

Cellular components related to Lipid Storage Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.81 PSAP MIR21 MIR199A1 MIR192 MIR155 MIR122
2 lysosome GO:0005764 9.43 PSAP LIPA GLA GBA GALC CLN3
3 lysosomal lumen GO:0043202 9.02 PSAP LIPA GLA GBA GALC

Biological processes related to Lipid Storage Disease according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 gene silencing by miRNA GO:0035195 9.89 MIR21 MIR199A1 MIR192 MIR155 MIR122
2 cholesterol metabolic process GO:0008203 9.69 SREBF1 GBA CYP27A1
3 lipid metabolic process GO:0006629 9.61 SREBF1 SMPD2 PSAP PNPLA2 LIPA GBA
4 negative regulation of low-density lipoprotein particle clearance GO:0010989 9.52 MIR199A1 MIR155
5 positive regulation of connective tissue replacement GO:1905205 9.48 MIR199A1 MIR155
6 positive regulation of cardiac muscle hypertrophy in response to stress GO:1903244 9.46 MIR199A1 MIR155
7 sphingolipid metabolic process GO:0006665 9.46 SMPD2 PSAP GBA GALC
8 positive regulation of triglyceride catabolic process GO:0010898 9.43 PNPLA2 ABHD5
9 negative regulation of regulatory T cell differentiation GO:0045590 9.4 MIR21 MIR155
10 lymphocyte migration GO:0072676 9.37 GBA CCR6
11 negative regulation of interleukin-21 production GO:0032705 9.32 MIR21 MIR192
12 negative regulation of sequestering of triglyceride GO:0010891 9.26 PNPLA2 ABHD5
13 glycosphingolipid metabolic process GO:0006687 9.02 SMPD2 PSAP GLA GBA GALC

Molecular functions related to Lipid Storage Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mRNA binding involved in posttranscriptional gene silencing GO:1903231 9.26 MIR21 MIR199A1 MIR192 MIR155
2 hydrolase activity, acting on glycosyl bonds GO:0016798 8.8 GLA GBA GALC

Sources for Lipid Storage Disease

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
69 Tocris
71 UMLS via Orphanet
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