Deafness, Nonsyndromic Sensorineural, Mitochondrial disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: DFN349 MIFTS: 26	Deafness, Nonsyndromic Sensorineural, Mitochondrial Categories: Ear diseases
Genes Variations Related diseases Pathways Download Expand all tables

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Aliases & Classifications for Deafness, Nonsyndromic Sensorineural, Mitochondrial

MalaCards integrated aliases for Deafness, Nonsyndromic Sensorineural, Mitochondrial:

Name: Deafness, Nonsyndromic Sensorineural, Mitochondrial ⁵⁷ ²⁹ ⁶ ⁴⁰

Deafness, Sensorineural, Mitochondrial ⁷⁵

Dfnm ⁷⁵

Classifications:

MalaCards categories:
Anatomical: Ear diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 500008

MedGen ⁴² C3151897

MeSH ⁴⁴ D006319

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Summaries for Deafness, Nonsyndromic Sensorineural, Mitochondrial

OMIM : ⁵⁷ Mutations in mitochondrial DNA (mtDNA) have been found to be associated with nonsyndromic sensorineural hearing loss. Matrilineal relatives within and among families carrying certain pathogenic mitochondrial mutations exhibit a wide range of penetrance, severity, and age of onset of hearing loss, indicating that the mitochondrial mutations by themselves are not sufficient to produce a deafness phenotype. Modifier factors, such as nuclear and mitochondrial genes, or environmental factors, such as exposure to aminoglycosides, appear to modulate the phenotypic manifestations (summary by Tang et al., 2007). (500008)

MalaCards based summary : Deafness, Nonsyndromic Sensorineural, Mitochondrial, also known as deafness, sensorineural, mitochondrial, is related to genetic recurrent myoglobinuria and periodic paralysis with later-onset distal motor neuropathy. An important gene associated with Deafness, Nonsyndromic Sensorineural, Mitochondrial is MT-RNR1 (Mitochondrially Encoded 12S RNA), and among its related pathways/superpathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins..

UniProtKB/Swiss-Prot : ⁷⁵ Deafness, sensorineural, mitochondrial: A form of non-syndromic deafness with maternal inheritance. Affected individuals manifest progressive, postlingual, sensorineural hearing loss involving high frequencies.

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Related Diseases for Deafness, Nonsyndromic Sensorineural, Mitochondrial

Diseases in the Deafness, Nonsyndromic Sensorineural, Mitochondrial family:

Deafness, Sensorineural, Autosomal-Mitochondrial Type

Diseases related to Deafness, Nonsyndromic Sensorineural, Mitochondrial via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 54)

#	Related Disease	Score	Top Affiliating Genes
1	genetic recurrent myoglobinuria	10.6	MT-CO1 MT-CO3
2	periodic paralysis with later-onset distal motor neuropathy	10.6	MT-ATP6 MT-ATP8
3	isolated atp synthase deficiency	10.6	MT-ATP6 MT-ATP8
4	mitochondrial complex v deficiency	10.5	MT-ATP6 MT-ATP8
5	coenurosis	10.5	MT-CO1 MT-ND1
6	epilepsy, familial temporal lobe, 2	10.5	MT-CO1 MT-CO3
7	taeniasis	10.4	MT-CO1 MT-ND1
8	myiasis	10.4	MT-CO1 MT-ND5
9	cysticercosis	10.4	MT-CO1 MT-ND1
10	sparganosis	10.4	MT-CO1 MT-ND4
11	alzheimer disease mitochondrial	10.3	MT-ND1 MT-ND2
12	myoglobinuria	10.3	MT-CO1 MT-CO3
13	leber optic atrophy and dystonia	10.3	MT-ND1 MT-ND4
14	cystic echinococcosis	10.3	MT-ATP6 MT-CO1 MT-ND1
15	myoglobinuria, recurrent	10.3	MT-CO1 MT-CO2 MT-ND2
16	mitochondrial complex iv deficiency	10.2	MT-CO1 MT-CO2 MT-CO3
17	echinococcosis	10.2	MT-ATP6 MT-CO1 MT-ND1
18	mitochondrial metabolism disease	10.2	MT-ATP6 MT-ND5
19	parasitic helminthiasis infectious disease	10.2	MT-CO1 MT-ND1
20	parasitic protozoa infectious disease	10.2	MT-CO1 MT-CO2
21	diphyllobothriasis	10.2	MT-ATP8 MT-CO1 MT-ND5
22	cercarial dermatitis	10.1	MT-ATP8 MT-CO1 MT-ND4
23	sideroblastic anemia acquired	10.1	MT-ATP6 MT-ATP8 MT-CO1 MT-CO2
24	cardiomyopathy, infantile hypertrophic	10.0	MT-ATP6 MT-ATP8 MT-CO2 MT-CO3
25	mitochondrial dna depletion syndrome 1	9.9	MT-ATP6 MT-ATP8 MT-CO2 MT-CO3
26	encephalomyopathy	9.8	MT-ND1 MT-ND4 MT-ND5
27	cranial nerve disease	9.7	MT-ND1 MT-ND4 MT-ND5
28	optic nerve disease	9.7	MT-ND1 MT-ND4 MT-ND5
29	striatonigral degeneration, infantile, mitochondrial	9.7	MT-ATP6 MT-ATP8 MT-CO3 MT-ND4
30	myopathy, lactic acidosis, and sideroblastic anemia 3	9.7	MT-ATP6 MT-ATP8 MT-CO3 MT-ND4
31	striatonigral degeneration, infantile	9.7	MT-ATP6 MT-ATP8 MT-CO3 MT-ND4
32	ataxia and polyneuropathy, adult-onset	9.7	MT-ATP6 MT-ATP8 MT-CO3 MT-ND4
33	myopathy, lactic acidosis, and sideroblastic anemia	9.7	MT-ATP6 MT-ATP8 MT-CO3 MT-ND4
34	3-methylglutaconic aciduria	9.7	MT-ND1 MT-ND2
35	neuropathy	9.7	MT-ATP6 MT-ND1 MT-ND4
36	hereditary hearing loss and deafness	9.4	MT-CO1 MT-RNR1 MT-TS1
37	lactic acidosis	9.1	MT-ATP6 MT-CO3 MT-ND1 MT-ND4 MT-ND5
38	mitochondrial complex i deficiency	9.0	MT-CO1 MT-ND1 MT-ND2 MT-ND4 MT-ND5
39	nonsyndromic deafness	9.0	MT-ND1 MT-RNR1 MT-TS1
40	mitochondrial non-syndromic sensorineural deafness	8.8	MT-CO1 MT-RNR1 MT-TH MT-TS1
41	deafness, aminoglycoside-induced	8.8	MT-CO1 MT-ND4 MT-RNR1 MT-TS1
42	retinitis pigmentosa	8.7	MT-ATP6 MT-ATP8 MT-CO2 MT-CO3 MT-ND4 MT-ND5
43	mitochondrial dna-associated leigh syndrome and narp	8.6	MT-ATP6 MT-CO3 MT-ND1 MT-ND2 MT-ND4 MT-ND5
44	familial colorectal cancer	8.5	MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-ND4
45	kearns-sayre syndrome	8.5	MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-ND1 MT-ND4
46	myopathy	8.4	MT-ATP6 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4
47	mitochondrial encephalomyopathy	8.3	MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND2 MT-ND4
48	leber hereditary optic neuropathy	8.3	MT-ATP6 MT-CO1 MT-CO3 MT-ND1 MT-ND2 MT-ND4
49	myoclonic epilepsy associated with ragged-red fibers	8.0	MT-ND4 MT-ND5 MT-RNR1 MT-TH MT-TS1
50	mitochondrial myopathy	7.6	MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-ND1

Graphical network of the top 20 diseases related to Deafness, Nonsyndromic Sensorineural, Mitochondrial:

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Symptoms & Phenotypes for Deafness, Nonsyndromic Sensorineural, Mitochondrial

Clinical features from OMIM:

500008

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Drugs & Therapeutics for Deafness, Nonsyndromic Sensorineural, Mitochondrial

Search Clinical Trials , NIH Clinical Center for Deafness, Nonsyndromic Sensorineural, Mitochondrial

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Genetic Tests for Deafness, Nonsyndromic Sensorineural, Mitochondrial

Genetic tests related to Deafness, Nonsyndromic Sensorineural, Mitochondrial:

#	Genetic test	Affiliating Genes
1	Deafness, Nonsyndromic Sensorineural, Mitochondrial ²⁹	MT-CO1 MT-RNR1 MT-TS1

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Anatomical Context for Deafness, Nonsyndromic Sensorineural, Mitochondrial

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Publications for Deafness, Nonsyndromic Sensorineural, Mitochondrial

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Genes for Deafness, Nonsyndromic Sensorineural, Mitochondrial

Genes related to Deafness, Nonsyndromic Sensorineural, Mitochondrial (5 elite genes):

(show all 12)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	MT-RNR1	Mitochondrially Encoded 12S RNA	RNA Gene	525	Pathogenic ⁶ Genetic Tests ²⁹ Drug response ⁶	16458854 20301595 20301607 (more) 24651602 11079536 11313749 15555598 15637703 16528519 18983818 14681830 16380089 16650816 16782057 18261986 15286157
2	MT-TS1	Mitochondrially Encoded TRNA Serine 1 (UCN)	RNA Gene	500	Pathogenic ⁶ Genetic Tests ²⁹	20153673 20301595 20301607 (more) 24651602 9832034 10094190 7581383 10545608 11378827 7219534 7987332 8019558 6213205 9450881 8572257 127819 9742104 11069477 11175301 10978361 10340654 10371545 12461693 17659260 1634041 8240356 8077181 10577941 16152638
3	MT-ND1	Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 1	Protein Coding	418.46	Pathogenic ⁶ GeneCards inferred via : Variants (show sections)	17637808 22241583 20301595 (more) 20301607 24651602
4	MT-TH	Mitochondrially Encoded TRNA Histidine	RNA Gene	400	Pathogenic ⁶	21931169 20301595 20301607 (more) 24651602
5	MT-CO1	Mitochondrially Encoded Cytochrome C Oxidase I	Protein Coding	118.8	Genetic Tests ²⁹ GeneCards inferred via : Variants (show sections)
6	MT-CO2	Mitochondrially Encoded Cytochrome C Oxidase II	Protein Coding	18.74	GeneCards inferred via : Variants (show sections)
7	MT-ATP6	Mitochondrially Encoded ATP Synthase Membrane Subunit 6	Protein Coding	18.74	GeneCards inferred via : Variants (show sections)
8	MT-ATP8	Mitochondrially Encoded ATP Synthase Membrane Subunit 8	Protein Coding	18.74	GeneCards inferred via : Variants (show sections)
9	MT-CO3	Mitochondrially Encoded Cytochrome C Oxidase III	Protein Coding	18.74	GeneCards inferred via : Variants (show sections)
10	MT-ND2	Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 2	Protein Coding	18.11	GeneCards inferred via : Variants (show sections)
11	MT-ND5	Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 5	Protein Coding	17.76	GeneCards inferred via : Variants (show sections)
12	MT-ND4	Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 4	Protein Coding	17.76	GeneCards inferred via : Variants (show sections)

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Variations for Deafness, Nonsyndromic Sensorineural, Mitochondrial

ClinVar genetic disease variations for Deafness, Nonsyndromic Sensorineural, Mitochondrial:

⁶

(show all 31)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	MT-TS1	m.7445A> G	single nucleotide variant	Pathogenic	rs199474818	GRCh37	Chromosome MT, 7445: 7445
2	MT-TS1	m.7445A> G	single nucleotide variant	Pathogenic	rs199474818	GRCh38	Chromosome MT, 7445: 7445
3	MT-TS1	m.7510T> C	single nucleotide variant	Pathogenic	rs199474820	GRCh37	Chromosome MT, 7510: 7510
4	MT-TS1	m.7510T> C	single nucleotide variant	Pathogenic	rs199474820	GRCh38	Chromosome MT, 7510: 7510
5	MT-TS1	m.7511T> C	single nucleotide variant	Pathogenic	rs199474821	GRCh37	Chromosome MT, 7511: 7511
6	MT-TS1	m.7511T> C	single nucleotide variant	Pathogenic	rs199474821	GRCh38	Chromosome MT, 7511: 7511
7	MT-TS1	m.7445A> C	single nucleotide variant	Pathogenic	rs199474818	GRCh37	Chromosome MT, 7445: 7445
8	MT-TS1	m.7445A> C	single nucleotide variant	Pathogenic	rs199474818	GRCh38	Chromosome MT, 7445: 7445
9	MT-CO1; MT-RNR1	m.1555A> G	single nucleotide variant	drug response	rs267606617	GRCh37	Chromosome MT, 1555: 1555
10	MT-CO1; MT-RNR1	m.1555A> G	single nucleotide variant	drug response	rs267606617	GRCh38	Chromosome MT, 1555: 1555
11	MT-RNR1	m.1095T> C	single nucleotide variant	drug response	rs267606618	GRCh37	Chromosome MT, 1095: 1095
12	MT-RNR1	m.1095T> C	single nucleotide variant	drug response	rs267606618	GRCh38	Chromosome MT, 1095: 1095
13	MT-RNR1	m.1494C> T	single nucleotide variant	drug response	rs267606619	GRCh37	Chromosome MT, 1494: 1494
14	MT-RNR1	m.1494C> T	single nucleotide variant	drug response	rs267606619	GRCh38	Chromosome MT, 1494: 1494
15	MT-RNR1	m.827A> G	single nucleotide variant	Pathogenic	rs28358569	GRCh37	Chromosome MT, 827: 827
16	MT-RNR1	m.827A> G	single nucleotide variant	Pathogenic	rs28358569	GRCh38	Chromosome MT, 827: 827
17	MT-CO1; MT-TS1	m.7444G> A	single nucleotide variant	Pathogenic	rs199474822	GRCh37	Chromosome MT, 7444: 7444
18	MT-CO1; MT-TS1	m.7444G> A	single nucleotide variant	Pathogenic	rs199474822	GRCh38	Chromosome MT, 7444: 7444
19	MT-ND1	m.3388C> A	single nucleotide variant	Pathogenic	rs387906730	GRCh38	Chromosome MT, 3388: 3388
20	MT-ND1	m.3388C> A	single nucleotide variant	Pathogenic	rs387906730	GRCh37	Chromosome MT, 3388: 3388
21	MT-TH	m.12201T> C	single nucleotide variant	Pathogenic	rs387906733	GRCh38	Chromosome MT, 12201: 12201
22	MT-TH	m.12201T> C	single nucleotide variant	Pathogenic	rs387906733	GRCh37	Chromosome MT, 12201: 12201
23	MT-TS1	m.7443A> G	single nucleotide variant	Pathogenic	rs397507452	GRCh38	Chromosome MT, 7443: 7443
24	MT-TS1	m.7443A> G	single nucleotide variant	Pathogenic	rs397507452	GRCh37	Chromosome MT, 7443: 7443
25	MT-TS1	NC_012920.1: m.7505T> C	single nucleotide variant	Pathogenic	rs724159989	GRCh37	Chromosome MT, 7505: 7505
26	MT-TS1	NC_012920.1: m.7505T> C	single nucleotide variant	Pathogenic	rs724159989	GRCh38	Chromosome MT, 7505: 7505
27	MT-TS1	m.7471_7472insC	duplication	Pathogenic	rs111033319	GRCh37	Chromosome MT, 7471: 7471
28	MT-TS1	m.7471_7472insC	duplication	Pathogenic	rs111033319	GRCh38	Chromosome MT, 7471: 7471
29		m.961_962delTinsC(n)	indel	Pathogenic
30	MT-RNR1	NC_012920.1: m.1027A> G	single nucleotide variant	Likely pathogenic	rs727504555	GRCh37	Chromosome MT, 1027: 1027
31	MT-RNR1	NC_012920.1: m.1027A> G	single nucleotide variant	Likely pathogenic	rs727504555	GRCh38	Chromosome MT, 1027: 1027

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Expression for Deafness, Nonsyndromic Sensorineural, Mitochondrial

Search GEO for disease gene expression data for Deafness, Nonsyndromic Sensorineural, Mitochondrial.

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Pathways for Deafness, Nonsyndromic Sensorineural, Mitochondrial

Pathways related to Deafness, Nonsyndromic Sensorineural, Mitochondrial according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Metabolism ⁶⁶ Show member pathways Metabolic pathways ³⁷ Metabolism of lipids and lipoproteins ⁶⁶	13.61	MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-ND1
2	Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. ⁶⁶ Show member pathways Alzheimer's disease ³⁷ Alzheimers Disease ¹ Complex I biogenesis ⁶⁶ Electron Transport Chain ¹ Formation of ATP by chemiosmotic coupling ⁶⁶ Huntington's disease ³⁷ Non-alcoholic fatty liver disease (NAFLD) ³⁷ Oxidative phosphorylation ³⁷ Oxidative phosphorylation ¹ Parkinson's disease ³⁷ Respiratory electron transport ⁶⁶ The citric acid (TCA) cycle and respiratory electron transport ⁶⁶ Thermogenesis ³⁷	12.53	MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-ND1
3	GABAergic synapse ³⁷ Show member pathways Morphine addiction ³⁷ Retrograde endocannabinoid signaling ³⁷	12.07	MT-ND1 MT-ND2 MT-ND4 MT-ND5
4	TP53 Regulates Metabolic Genes ⁶⁶	11.26	MT-CO1 MT-CO2 MT-CO3
5	Cardiac muscle contraction ³⁷	11.02	MT-CO1 MT-CO2 MT-CO3

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GO Terms for Deafness, Nonsyndromic Sensorineural, Mitochondrial

Cellular components related to Deafness, Nonsyndromic Sensorineural, Mitochondrial according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	mitochondrion	GO:0005739	9.91	MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4
2	mitochondrial membrane	GO:0031966	9.61	MT-ATP8 MT-ND1 MT-ND4
3	mitochondrial respiratory chain complex I	GO:0005747	9.56	MT-ND1 MT-ND2 MT-ND4 MT-ND5
4	mitochondrial respiratory chain complex IV	GO:0005751	9.5	MT-CO1 MT-CO2 MT-CO3
5	mitochondrial proton-transporting ATP synthase complex	GO:0005753	9.46	MT-ATP6 MT-ATP8
6	respiratory chain	GO:0070469	9.43	MT-CO1 MT-CO2 MT-ND1 MT-ND2 MT-ND4 MT-ND5
7	proton-transporting ATP synthase complex, coupling factor F(o)	GO:0045263	9.4	MT-ATP6 MT-ATP8
8	respiratory chain complex IV	GO:0045277	9.33	MT-CO1 MT-CO2 MT-CO3
9	mitochondrial inner membrane	GO:0005743	9.28	MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-ND1
10	integral component of membrane	GO:0016021	10.13	MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-ND1

Biological processes related to Deafness, Nonsyndromic Sensorineural, Mitochondrial according to GeneCards Suite gene sharing:

(show all 15)

#	Name	GO ID	Score	Top Affiliating Genes
1	oxidation-reduction process	GO:0055114	9.8	MT-CO1 MT-CO2 MT-ND1 MT-ND2 MT-ND4 MT-ND5
2	aging	GO:0007568	9.69	MT-ATP6 MT-CO1 MT-ND4
3	proton transmembrane transport	GO:1902600	9.61	MT-CO1 MT-CO2 MT-CO3
4	cerebellum development	GO:0021549	9.55	MT-CO1 MT-ND4
5	ATP biosynthetic process	GO:0006754	9.54	MT-ATP6 MT-ATP8
6	aerobic respiration	GO:0009060	9.54	MT-CO1 MT-CO3 MT-ND4
7	cristae formation	GO:0042407	9.52	MT-ATP6 MT-ATP8
8	ATP synthesis coupled proton transport	GO:0015986	9.49	MT-ATP6 MT-ATP8
9	respiratory electron transport chain	GO:0022904	9.48	MT-CO1 MT-CO3
10	mitochondrial ATP synthesis coupled proton transport	GO:0042776	9.46	MT-ATP6 MT-ATP8
11	mitochondrial respiratory chain complex I assembly	GO:0032981	9.46	MT-ND1 MT-ND2 MT-ND4 MT-ND5
12	mitochondrial electron transport, cytochrome c to oxygen	GO:0006123	9.43	MT-CO1 MT-CO2 MT-CO3
13	electron transport coupled proton transport	GO:0015990	9.4	MT-CO1 MT-ND4
14	mitochondrial electron transport, NADH to ubiquinone	GO:0006120	9.26	MT-ND1 MT-ND2 MT-ND4 MT-ND5
15	ATP synthesis coupled electron transport	GO:0042773	8.8	MT-CO2 MT-ND4 MT-ND5

Molecular functions related to Deafness, Nonsyndromic Sensorineural, Mitochondrial according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	oxidoreductase activity	GO:0016491	9.63	MT-CO1 MT-CO2 MT-ND1 MT-ND2 MT-ND4 MT-ND5
2	cytochrome-c oxidase activity	GO:0004129	9.43	MT-CO1 MT-CO2 MT-CO3
3	proton transmembrane transporter activity	GO:0015078	9.32	MT-ATP6 MT-ATP8
4	NADH dehydrogenase activity	GO:0003954	9.13	MT-ND1 MT-ND4 MT-ND5
5	NADH dehydrogenase (ubiquinone) activity	GO:0008137	8.92	MT-ND1 MT-ND2 MT-ND4 MT-ND5

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