Mitochondrial Dna-Associated Leigh Syndrome and Narp disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: MTC015 MIFTS: 24	Mitochondrial Dna-Associated Leigh Syndrome and Narp
Genes Variations Related diseases Publications Pathways Expand all tables

Sources

Aliases & Classifications for Mitochondrial Dna-Associated Leigh Syndrome and Narp

MalaCards integrated aliases for Mitochondrial Dna-Associated Leigh Syndrome and Narp:

Name: Mitochondrial Dna-Associated Leigh Syndrome and Narp ²⁵ ²⁹ ⁶

Mtdna-Associated Leigh Syndrome Narp ²⁵

Characteristics:

GeneReviews:

²⁵

Penetrance See genotype-phenotype correlations.

Sources

Summaries for Mitochondrial Dna-Associated Leigh Syndrome and Narp

MalaCards based summary : Mitochondrial Dna-Associated Leigh Syndrome and Narp, also known as mtdna-associated leigh syndrome narp, is related to dystonia and peripheral nervous system disease. An important gene associated with Mitochondrial Dna-Associated Leigh Syndrome and Narp is MT-ATP6 (Mitochondrially Encoded ATP Synthase Membrane Subunit 6), and among its related pathways/superpathways are Metabolism and Pathways of neurodegeneration - multiple diseases.

GeneReviews: NBK1173

Sources

Related Diseases for Mitochondrial Dna-Associated Leigh Syndrome and Narp

Diseases related to Mitochondrial Dna-Associated Leigh Syndrome and Narp via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 83)

#	Related Disease	Score	Top Affiliating Genes
1	dystonia	30.2	MT-ND6 MT-ND4 MT-ND3 MT-ND1
2	peripheral nervous system disease	30.2	MT-ND6 MT-ND4 MT-ND1 MT-ATP6
3	hypertrophic cardiomyopathy	29.7	MT-TL1 MT-ND5 MT-ND1 MT-ATP6
4	neuropathy	29.5	MT-ND6 MT-ND5 MT-ND4 MT-ND3 MT-ND2 MT-ND1
5	retinitis pigmentosa	29.2	MT-TW MT-TL1 MT-ND6 MT-ND4 MT-ND1 MT-ATP6
6	mitochondrial dna-associated leigh syndrome	27.1	PDSS2 MT-TW MT-TV MT-TL1 MT-TK MT-ND6
7	leigh syndrome	27.1	PDSS2 MT-TW MT-TV MT-TL1 MT-TK MT-ND6
8	ataxia and polyneuropathy, adult-onset	10.3
9	chorea, childhood-onset, with psychomotor retardation	10.3
10	neuroretinitis	10.3
11	choreatic disease	10.3
12	sensory peripheral neuropathy	10.3
13	retinitis	10.3
14	movement disease	10.3
15	basal ganglia disease	10.3
16	hypotonia	10.3
17	spasticity	10.3
18	alzheimer disease mitochondrial	10.3	MT-ND2 MT-ND1
19	coenurosis	10.2	MT-ND4 MT-ND1
20	intracranial vasospasm	10.2	MT-ND5 MT-ATP6
21	progressive myoclonus epilepsy 8	10.2	MT-ND5 MT-ND2
22	deafness, nonsyndromic sensorineural, mitochondrial	10.2	MT-ND4 MT-ND1
23	toxic optic neuropathy	10.2	MT-ND6 MT-ND4
24	cystic echinococcosis	10.2	MT-ND1 MT-ATP6
25	optic atrophy 4	10.2	MT-ND6 MT-ND4
26	echinococcosis	10.1	MT-ND1 MT-ATP6
27	drug-induced hearing loss	10.1	MT-ND6 MT-ND4
28	optic atrophy 7 with or without auditory neuropathy	10.1	MT-ND6 MT-ND4
29	progressive myoclonus epilepsy 9	10.1	MT-TK MT-ND5
30	parkinson disease 6, autosomal recessive early-onset	10.1	MT-ND6 MT-ND5
31	optic atrophy 5	10.1	MT-ND6 MT-ND4
32	mitochondrial dna depletion syndrome 4a	10.1	MT-ND5 MT-ND1 MT-ATP6
33	sparganosis	10.1	MT-ND4 MT-ND3 MT-ND1
34	severe congenital neutropenia 1	10.1	MT-ND5 MT-ND2 MT-ND1
35	scotoma	10.1	MT-ND6 MT-ND4
36	myasthenic syndrome, congenital, 10	10.1	MT-TK MT-ND2
37	cardiomyopathy, infantile hypertrophic	10.1	MT-ND6 MT-ATP6
38	diabetes and deafness, maternally inherited	10.1	MT-TL1 MT-TK
39	neuropathy, ataxia, and retinitis pigmentosa	10.0	MT-ND6 MT-ND4 MT-ATP6
40	mitochondrial complex iv deficiency, nuclear type 5	10.0	MT-ND6 MT-ATP6
41	deafness, aminoglycoside-induced	10.0	MT-ND6 MT-ND4 MT-ND1
42	retinitis pigmentosa 36	10.0	MT-TV MT-TK
43	retinitis pigmentosa 32	10.0	MT-TV MT-TK
44	retinitis pigmentosa 22	10.0	MT-TV MT-TK
45	retinitis pigmentosa 14	9.9	MT-TV MT-TK
46	retinitis pigmentosa 20	9.9	MT-TV MT-TK
47	mitochondrial myopathy, infantile, transient	9.9	MT-ND5 MT-ND2 MT-ND1 MT-ATP6
48	cercarial dermatitis	9.9	MT-TW MT-ND4
49	retinitis pigmentosa 12	9.9	MT-TV MT-TK
50	mental retardation, autosomal dominant 30	9.9	MT-TV MT-TK

Graphical network of the top 20 diseases related to Mitochondrial Dna-Associated Leigh Syndrome and Narp:

Sources

Symptoms & Phenotypes for Mitochondrial Dna-Associated Leigh Syndrome and Narp

Sources

Drugs & Therapeutics for Mitochondrial Dna-Associated Leigh Syndrome and Narp

Search Clinical Trials , NIH Clinical Center for Mitochondrial Dna-Associated Leigh Syndrome and Narp

Sources

Genetic Tests for Mitochondrial Dna-Associated Leigh Syndrome and Narp

Genetic tests related to Mitochondrial Dna-Associated Leigh Syndrome and Narp:

#	Genetic test	Affiliating Genes
1	Mitochondrial Dna-Associated Leigh Syndrome and Narp ²⁹

Sources

Anatomical Context for Mitochondrial Dna-Associated Leigh Syndrome and Narp

Sources

Publications for Mitochondrial Dna-Associated Leigh Syndrome and Narp

Articles related to Mitochondrial Dna-Associated Leigh Syndrome and Narp:

(show top 50) (show all 247)

#	Title	Authors	PMID	Year
1	NDUFAF4 variants are associated with Leigh syndrome and cause a specific mitochondrial complex I assembly defect. ²⁵	Baertling F...Nijtmans LGJ	28853723	2017
2	Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients. ²⁵	Ogawa E...Murayama K	28429146	2017
3	Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome. ²⁵	Lake NJ...Thorburn DR	28777931	2017
4	Leigh-like neuroimaging features associated with new biallelic mutations in OPA1. ²⁵	Rubegni A...Nesti C	28442211	2017
5	Live birth derived from oocyte spindle transfer to prevent mitochondrial disease. ²⁵	Zhang J...Huang T	28385334	2017
6	Ketogenic diet attenuates hepatopathy in mouse model of respiratory chain complex III deficiency caused by a Bcs1l mutation. ²⁵	Purhonen J...Kallijarvi J	28424480	2017
7	Mutations in mitochondrial complex I assembly factor NDUFAF3 cause Leigh syndrome. ²⁵	Baertling F...Nijtmans LG	27986404	2017
8	A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders. ²⁵	Riley LG...Christodoulou J	27995398	2017
9	Novel mutation of ND4 gene identified by targeted next-generation sequencing in patient with Leigh syndrome. ²⁵	Xu B...Yang Y	27761019	2017
10	De novo mtDNA point mutations are common and have a low recurrence risk. ²⁵	Sallevelt SC...Smeets HJ	27450679	2017
11	Leigh map: A novel computational diagnostic resource for mitochondrial disease. ²⁵	Rahman J...Rahman S	27977873	2017
12	Mitochondrial Donation - Clearing the Final Regulatory Hurdle in the United Kingdom. ²⁵	Herbert M...Turnbull D	28030773	2017
13	Mitochondrial replacement in human oocytes carrying pathogenic mitochondrial DNA mutations. ²⁵	Kang E...Mitalipov S	27919073	2016
14	Modified Atkins diet induces subacute selective ragged-red-fiber lysis in mitochondrial myopathy patients. ²⁵	Ahola S...Suomalainen A	27647878	2016
15	DNM1L-related encephalopathy in infancy with Leigh syndrome-like phenotype and suppression-burst. ²⁵	Zaha K...Nonoyama S	27301544	2016
16	Novel mutation in mitochondrial DNA in 2 siblings with Leigh syndrome. ²⁵	Veerapandiyan A...Ming X	27574709	2016
17	Near-complete elimination of mutant mtDNA by iterative or dynamic dose-controlled treatment with mtZFNs. ²⁵	Gammage PA...Minczuk M	27466392	2016
18	SLC25A46 is required for mitochondrial lipid homeostasis and cristae maintenance and is responsible for Leigh syndrome. ²⁵	Janer A...Shoubridge EA	27390132	2016
19	Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function. ²⁵	Floyd BJ...Pagliarini DJ	27499296	2016
20	Novel genetic and neuropathological insights in neurogenic muscle weakness, ataxia, and retinitis pigmentosa (NARP). ²⁵	Claeys KG...Weis J	27015314	2016
21	Towards clinical application of pronuclear transfer to prevent mitochondrial DNA disease. ²⁵	Hyslop LA...Herbert M	27281217	2016
22	The pleiotropic effects of decanoic acid treatment on mitochondrial function in fibroblasts from patients with complex I deficient Leigh syndrome. ²⁵	Kanabus M...Rahman S	27080638	2016
23	3697G>A in MT-ND1 is a causative mutation in mitochondrial disease. ²⁵	Spangenberg L...Naya H	27017994	2016
24	The neuroimaging of Leigh syndrome: case series and review of the literature. ²⁵	Bonfante E...Riascos RF	26739140	2016
25	Hypoxia as a therapy for mitochondrial disease. ²⁵	Jain IH...Mootha VK	26917594	2016
26	Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy. ²⁵	Koch J...Haack TB	26783368	2016
27	Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9. ²⁵	Danhauser K...Distelmaier F	26081641	2016
28	Leigh syndrome: One disorder, more than 75 monogenic causes. ²⁵	Lake NJ...Thorburn DR	26506407	2016
29	Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy. ²⁵	Hallmann K...Kunz WS	26685157	2016
30	A mutation in MT-TW causes a tRNA processing defect and reduced mitochondrial function in a family with Leigh syndrome. ²⁵	Duff RM...Filipovska A	26524491	2015
31	Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society. ²⁵	Parikh S...DiMauro S	25503498	2015
32	Compound heterozygous GFM2 mutations with Leigh syndrome complicated by arthrogryposis multiplex congenita. ²⁵	Fukumura S...Tsutsumi H	26016410	2015
33	Exome sequencing identifies complex I NDUFV2 mutations as a novel cause of Leigh syndrome. ²⁵	Cameron JM...Schulze A	26008862	2015
34	Preventing the transmission of mitochondrial DNA disorders using prenatal or preimplantation genetic diagnosis. ²⁵	Smeets HJ...de Coo IF	26312584	2015
35	Pharmacological NAD-Boosting Strategies Improve Mitochondrial Homeostasis in Human Complex I-Mutant Fibroblasts. ²⁵	Felici R...Chiarugi A	25788480	2015
36	Ophthalmological manifestations in patients with Leigh syndrome. ²⁵	Han J...Han SH	25351680	2015
37	Selective elimination of mitochondrial mutations in the germline by genome editing. ²⁵	Reddy P...Izpisua Belmonte JC	25910206	2015
38	Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndrome. ²⁵	Wortmann SB...Willemsen MA	25642805	2015
39	Mild clinical manifestation and unusual recovery upon coenzyme Q₁₀ treatment in the first Chinese Leigh syndrome pedigree with mutation m.10197 G>A. ²⁵	Chen Z...Zheng A	25384404	2015
40	Effect of nicotinamide mononucleotide on brain mitochondrial respiratory deficits in an Alzheimer's disease-relevant murine model. ²⁵	Long AN...Schuh RA	25884176	2015
41	Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome. ²⁵	Simon M...Riazuddin S	25807530	2015
42	ECHS1 mutations cause combined respiratory chain deficiency resulting in Leigh syndrome. ²⁵	Sakai C...Goto Y	25393721	2015
43	CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria. ²⁵	Saunders C...Ostergaard E	25597511	2015
44	Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy. ²⁵	Kopajtich R...Prokisch H	25434004	2014
45	ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism. ²⁵	Peters H...Pitt J	25125611	2014
46	Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome. ²⁵	Schwartzentruber J...Samuels ME	25130867	2014
47	A national perspective on prenatal testing for mitochondrial disease. ²⁵	Nesbitt V...McFarland R	24642831	2014
48	Long survival in patients with leigh syndrome and the m.10191T>C mutation in MT-ND3 : a case report and review of the literature. ²⁵	Levy RJ...DiMauro S	24284231	2014
49	Mitochondrial EFTs defects in juvenile-onset Leigh disease, ataxia, neuropathy, and optic atrophy. ²⁵	Ahola S...Suomalainen A	25037205	2014
50	Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. ²⁵	Taylor RW...Chinnery PF	25058219	2014

Sources

Genes for Mitochondrial Dna-Associated Leigh Syndrome and Narp

Genes related to Mitochondrial Dna-Associated Leigh Syndrome and Narp (0 elite genes):

(show all 12)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	MT-ATP6	Mitochondrially Encoded ATP Synthase Membrane Subunit 6	Protein Coding	17.18	GeneCards inferred via : Publications Variants (show sections)
2	MT-ND1	Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 1	Protein Coding	7.5	GeneCards inferred via : Publications (show sections)
3	MT-ND2	Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 2	Protein Coding	7.5	GeneCards inferred via : Publications (show sections)
4	MT-ND3	Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 3	Protein Coding	7.5	GeneCards inferred via : Publications (show sections)
5	MT-ND4	Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 4	Protein Coding	7.5	GeneCards inferred via : Publications (show sections)
6	MT-ND5	Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 5	Protein Coding	7.5	GeneCards inferred via : Publications (show sections)
7	MT-ND6	Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 6	Protein Coding	7.5	GeneCards inferred via : Publications (show sections)
8	MT-TK	Mitochondrially Encoded TRNA-Lys (AAA/G)	RNA Gene	7.5	GeneCards inferred via : Publications (show sections)
9	MT-TL1	Mitochondrially Encoded TRNA-Leu (UUA/G) 1	RNA Gene	7.5	GeneCards inferred via : Publications (show sections)
10	MT-TV	Mitochondrially Encoded TRNA-Val (GUN)	RNA Gene	7.5	GeneCards inferred via : Publications (show sections)
11	MT-TW	Mitochondrially Encoded TRNA-Trp (UGA/G)	RNA Gene	7.5	GeneCards inferred via : Publications (show sections)
12	PDSS2	Decaprenyl Diphosphate Synthase Subunit 2	Protein Coding	7.5	GeneCards inferred via : Publications (show sections)

Sources

Variations for Mitochondrial Dna-Associated Leigh Syndrome and Narp

ClinVar genetic disease variations for Mitochondrial Dna-Associated Leigh Syndrome and Narp:

⁶

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	MT-ATP6	NC_012920.1:m.8686T>C	SNV	not provided	585120	rs1569484231	GRCh37: MT:8686-8686 GRCh38: MT:8686-8686

Sources

Expression for Mitochondrial Dna-Associated Leigh Syndrome and Narp

Search GEO for disease gene expression data for Mitochondrial Dna-Associated Leigh Syndrome and Narp.

Sources

Pathways for Mitochondrial Dna-Associated Leigh Syndrome and Narp

Pathways related to Mitochondrial Dna-Associated Leigh Syndrome and Narp according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Metabolism ⁶⁵ Show member pathways Metabolic pathways ³⁶ Metabolism of lipids and lipoproteins ⁶⁵	13.62	PDSS2 MT-ND6 MT-ND5 MT-ND4 MT-ND3 MT-ND2
2	Pathways of neurodegeneration - multiple diseases ³⁶ Show member pathways Alzheimer disease ³⁶ Amyotrophic lateral sclerosis ³⁶ Huntington disease ³⁶	13.05	MT-ND6 MT-ND5 MT-ND4 MT-ND3 MT-ND2 MT-ND1
3	Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. ⁶⁵ Show member pathways Complex I biogenesis ⁶⁵ Diabetic cardiomyopathy ³⁶ Electron Transport Chain ¹ Formation of ATP by chemiosmotic coupling ⁶⁵ Non-alcoholic fatty liver disease ³⁶ Oxidative phosphorylation ¹ Oxidative phosphorylation ³⁶ Respiratory electron transport ⁶⁵ The citric acid (TCA) cycle and respiratory electron transport ⁶⁵ Thermogenesis ³⁶	12.83	MT-ND6 MT-ND5 MT-ND4 MT-ND3 MT-ND2 MT-ND1
4	GABAergic synapse ³⁶ Show member pathways Morphine addiction ³⁶ Retrograde endocannabinoid signaling ³⁶	11.95	MT-ND6 MT-ND5 MT-ND4 MT-ND3 MT-ND2 MT-ND1
5	Prion disease ³⁶ Show member pathways Parkinson disease ³⁶	11.88	MT-ND6 MT-ND5 MT-ND4 MT-ND3 MT-ND2 MT-ND1
6	tRNA Aminoacylation ⁶⁵ Show member pathways Aminoacyl-tRNA biosynthesis ³⁶ Cytosolic tRNA aminoacylation ⁶⁵ Mitochondrial tRNA aminoacylation ⁶⁵ Pyrophosphate hydrolysis ⁶⁵ SeMet incorporation into proteins ⁶⁵	11.8	MT-TW MT-TV MT-TL1 MT-TK

Sources

GO Terms for Mitochondrial Dna-Associated Leigh Syndrome and Narp

Cellular components related to Mitochondrial Dna-Associated Leigh Syndrome and Narp according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	mitochondrion	GO:0005739	9.86	PDSS2 MT-ND6 MT-ND5 MT-ND4 MT-ND3 MT-ND2
2	mitochondrial inner membrane	GO:0005743	9.7	MT-ND6 MT-ND5 MT-ND4 MT-ND3 MT-ND2 MT-ND1
3	mitochondrial membrane	GO:0031966	9.62	MT-ND6 MT-ND4 MT-ND3 MT-ND1
4	mitochondrial respiratory chain complex I	GO:0005747	9.35	MT-ND5 MT-ND4 MT-ND3 MT-ND2 MT-ND1
5	respiratory chain	GO:0070469	9.1	MT-ND6 MT-ND5 MT-ND4 MT-ND3 MT-ND2 MT-ND1

Biological processes related to Mitochondrial Dna-Associated Leigh Syndrome and Narp according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	oxidation-reduction process	GO:0055114	9.63	MT-ND6 MT-ND5 MT-ND4 MT-ND3 MT-ND2 MT-ND1
2	response to hydrogen peroxide	GO:0042542	9.46	MT-ND6 MT-ND5
3	cerebellum development	GO:0021549	9.43	PDSS2 MT-ND4
4	mitochondrial respiratory chain complex I assembly	GO:0032981	9.43	MT-ND6 MT-ND5 MT-ND4 MT-ND3 MT-ND2 MT-ND1
5	response to nicotine	GO:0035094	9.4	MT-ND6 MT-ND4
6	aerobic respiration	GO:0009060	9.37	MT-ND4 MT-ND1
7	ATP synthesis coupled electron transport	GO:0042773	9.32	MT-ND5 MT-ND4
8	electron transport coupled proton transport	GO:0015990	9.26	MT-ND5 MT-ND4
9	mitochondrial electron transport, NADH to ubiquinone	GO:0006120	9.1	MT-ND6 MT-ND5 MT-ND4 MT-ND3 MT-ND2 MT-ND1

Molecular functions related to Mitochondrial Dna-Associated Leigh Syndrome and Narp according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	NADH dehydrogenase activity	GO:0003954	9.13	MT-ND5 MT-ND4 MT-ND1
2	NADH dehydrogenase (ubiquinone) activity	GO:0008137	9.1	MT-ND6 MT-ND5 MT-ND4 MT-ND3 MT-ND2 MT-ND1

Sources

Sources for Mitochondrial Dna-Associated Leigh Syndrome and Narp

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Apr-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia