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

DFNM MCID: DFN349 MIFTS: 27	Deafness, Nonsyndromic Sensorineural, Mitochondrial (DFNM) Categories: Ear diseases
Genes Variations Tissues Related diseases Pathways Expand all tables

Sources

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

Sources

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 sideroblastic anemia and periodic paralysis with later-onset distal motor neuropathy. An important gene associated with Deafness, Nonsyndromic Sensorineural, Mitochondrial is MT-TS1 (Mitochondrially Encoded TRNA Serine 1 (UCN)), and among its related pathways/superpathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Affiliated tissues include temporal lobe.

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.

Sources

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 all 48)

#	Related Disease	Score	Top Affiliating Genes
1	sideroblastic anemia	10.2	MT-ATP6 MT-CO1
2	periodic paralysis with later-onset distal motor neuropathy	10.2	MT-ATP6 MT-ATP8
3	genetic recurrent myoglobinuria	10.2	MT-CO1 MT-CO3
4	myoglobinuria	10.2	MT-CO1 MT-CO3
5	isolated atp synthase deficiency	10.2	MT-ATP6 MT-ATP8
6	epilepsy, familial temporal lobe, 2	10.1	MT-CO1 MT-CO3
7	coenurosis	10.1	MT-CO1 MT-ND1
8	sparganosis	10.1	MT-CO1 MT-ND4
9	myasthenic syndrome, congenital, 10	10.1	MT-CO1 MT-CO2
10	taeniasis	10.1	MT-CO1 MT-ND1
11	leber optic atrophy and dystonia	10.1	MT-ND1 MT-ND4
12	myiasis	10.1	MT-CO1 MT-ND5
13	cystic echinococcosis	10.1	MT-ATP6 MT-CO1 MT-ND1
14	echinococcosis	10.1	MT-ATP6 MT-CO1 MT-ND1
15	alzheimer disease mitochondrial	10.1	MT-ND1 MT-ND2
16	cercarial dermatitis	10.0	MT-ATP8 MT-CO1 MT-ND4
17	gaucher disease, type iii	10.0	MT-CO2 MT-CO3
18	diphyllobothriasis	10.0	MT-ATP8 MT-CO1 MT-ND5
19	parasitic helminthiasis infectious disease	10.0	MT-CO1 MT-ND1
20	sideroblastic anemia acquired	10.0	MT-ATP6 MT-ATP8 MT-CO1 MT-CO2
21	cardiomyopathy, infantile hypertrophic	10.0	MT-ATP6 MT-ATP8 MT-CO2 MT-CO3
22	mitochondrial dna depletion syndrome 1	10.0	MT-ATP6 MT-ATP8 MT-CO2 MT-CO3
23	parasitic protozoa infectious disease	10.0	MT-CO1 MT-CO2
24	striatonigral degeneration, infantile	9.9	MT-ATP6 MT-ATP8 MT-CO3 MT-ND4
25	striatonigral degeneration, infantile, mitochondrial	9.9	MT-ATP6 MT-ATP8 MT-CO3 MT-ND4
26	myopathy, lactic acidosis, and sideroblastic anemia 3	9.9	MT-ATP6 MT-ATP8 MT-CO3 MT-ND4
27	myopathy, lactic acidosis, and sideroblastic anemia	9.9	MT-ATP6 MT-ATP8 MT-CO3 MT-ND4
28	ataxia and polyneuropathy, adult-onset	9.9	MT-ATP6 MT-ATP8 MT-CO3 MT-ND4
29	mitochondrial complex iv deficiency	9.9	MT-CO1 MT-CO2 MT-CO3 MT-ND4
30	cranial nerve disease	9.9	MT-ND1 MT-ND4 MT-ND5
31	neuropathy	9.8	MT-ATP6 MT-ND1 MT-ND4 MT-ND5
32	mitochondrial metabolism disease	9.8	MT-ATP6 MT-CO2 MT-ND4 MT-ND5
33	optic nerve disease	9.8	MT-ATP6 MT-ND1 MT-ND4 MT-ND5
34	mitochondrial complex i deficiency	9.7	MT-CO1 MT-ND1 MT-ND2 MT-ND4 MT-ND5
35	nonsyndromic deafness	9.6	MT-ND1 MT-RNR1 MT-TS1
36	deafness, aminoglycoside-induced	9.6	MT-CO1 MT-ND4 MT-RNR1 MT-TS1
37	lactic acidosis	9.6	MT-ATP6 MT-CO1 MT-CO3 MT-ND1 MT-ND4 MT-ND5
38	mitochondrial non-syndromic sensorineural deafness	9.6	MT-CO1 MT-RNR1 MT-TH MT-TS1
39	retinitis pigmentosa	9.6	MT-ATP6 MT-ATP8 MT-CO2 MT-CO3 MT-ND4 MT-ND5
40	familial colorectal cancer	9.5	MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-ND4
41	leber hereditary optic neuropathy	9.5	MT-ATP6 MT-CO1 MT-CO3 MT-ND1 MT-ND2 MT-ND4
42	kearns-sayre syndrome	9.4	MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-ND1 MT-ND2
43	myoclonic epilepsy associated with ragged-red fibers	9.3	MT-ND4 MT-ND5 MT-RNR1 MT-TH MT-TS1
44	mitochondrial encephalomyopathy	9.3	MT-ATP6 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND2
45	leber optic atrophy	9.2	MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-ND1
46	leigh syndrome	9.2	MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-ND1
47	mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	9.1	MT-ATP6 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4
48	mitochondrial myopathy	9.0	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:

Sources

Symptoms & Phenotypes for Deafness, Nonsyndromic Sensorineural, Mitochondrial

Clinical features from OMIM:

500008

Sources

Drugs & Therapeutics for Deafness, Nonsyndromic Sensorineural, Mitochondrial

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

Sources

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-TS1

Sources

Anatomical Context for Deafness, Nonsyndromic Sensorineural, Mitochondrial

MalaCards organs/tissues related to Deafness, Nonsyndromic Sensorineural, Mitochondrial:

⁴¹

Temporal Lobe

Sources

Publications for Deafness, Nonsyndromic Sensorineural, Mitochondrial

Sources

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-TS1	Mitochondrially Encoded TRNA Serine 1 (UCN)	RNA Gene	500	Pathogenic ⁶ Genetic Tests ²⁹	20153673 20301595 20301607 (more) 24651602 7219534 7987332 8019558 6213205 9450881 8572257 127819 9742104 11069477 11175301 10978361 10340654 10371545 12461693 17659260 1634041 8240356 8077181 10577941 16152638 9832034 10094190 7581383 10545608 11378827
2	MT-RNR1	Mitochondrially Encoded 12S RNA	RNA Gene	425	Pathogenic ⁶ Drug response ⁶	11079536 11313749 15555598 (more) 15637703 16528519 18983818 20301595 20301607 24651602 16458854 14681830 16380089 16650816 16782057 18261986 15286157
3	MT-ND1	Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 1	Protein Coding	418.36	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	118.71	Genetic Tests ²⁹ GeneCards inferred via : Variants (show sections)
6	MT-ATP6	Mitochondrially Encoded ATP Synthase Membrane Subunit 6	Protein Coding	18.64	GeneCards inferred via : Variants (show sections)
7	MT-ATP8	Mitochondrially Encoded ATP Synthase Membrane Subunit 8	Protein Coding	18.64	GeneCards inferred via : Variants (show sections)
8	MT-CO2	Mitochondrially Encoded Cytochrome C Oxidase II	Protein Coding	18.64	GeneCards inferred via : Variants (show sections)
9	MT-CO3	Mitochondrially Encoded Cytochrome C Oxidase III	Protein Coding	18.64	GeneCards inferred via : Variants (show sections)
10	MT-ND2	Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 2	Protein Coding	18.01	GeneCards inferred via : Variants (show sections)
11	MT-ND4	Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 4	Protein Coding	17.67	GeneCards inferred via : Variants (show sections)
12	MT-ND5	Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 5	Protein Coding	17.67	GeneCards inferred via : Variants (show sections)

Sources

Variations for Deafness, Nonsyndromic Sensorineural, Mitochondrial

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

⁶ (show all 36)

#	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-TI	m.4295A> G	single nucleotide variant	Uncertain significance	rs121434467	GRCh37	Chromosome MT, 4295: 4295
10	MT-TI	m.4295A> G	single nucleotide variant	Uncertain significance	rs121434467	GRCh38	Chromosome MT, 4295: 4295
11	MT-CO1; MT-RNR1	m.1555A> G	single nucleotide variant	drug response	rs267606617	GRCh37	Chromosome MT, 1555: 1555
12	MT-CO1; MT-RNR1	m.1555A> G	single nucleotide variant	drug response	rs267606617	GRCh38	Chromosome MT, 1555: 1555
13	MT-RNR1	m.1291T> C	single nucleotide variant	Likely benign	rs267606620	GRCh37	Chromosome MT, 1291: 1291
14	MT-RNR1	m.1291T> C	single nucleotide variant	Likely benign	rs267606620	GRCh38	Chromosome MT, 1291: 1291
15	MT-RNR1	m.1095T> C	single nucleotide variant	drug response	rs267606618	GRCh37	Chromosome MT, 1095: 1095
16	MT-RNR1	m.1095T> C	single nucleotide variant	drug response	rs267606618	GRCh38	Chromosome MT, 1095: 1095
17	MT-RNR1	m.1494C> T	single nucleotide variant	drug response	rs267606619	GRCh37	Chromosome MT, 1494: 1494
18	MT-RNR1	m.1494C> T	single nucleotide variant	drug response	rs267606619	GRCh38	Chromosome MT, 1494: 1494
19	MT-RNR1	m.961T> G	single nucleotide variant	Likely benign	rs3888511	GRCh37	Chromosome MT, 961: 961
20	MT-RNR1	m.961T> G	single nucleotide variant	Likely benign	rs3888511	GRCh38	Chromosome MT, 961: 961
21	MT-RNR1	m.827A> G	single nucleotide variant	Pathogenic	rs28358569	GRCh37	Chromosome MT, 827: 827
22	MT-RNR1	m.827A> G	single nucleotide variant	Pathogenic	rs28358569	GRCh38	Chromosome MT, 827: 827
23	MT-CO1; MT-TS1	m.7444G> A	single nucleotide variant	Pathogenic	rs199474822	GRCh37	Chromosome MT, 7444: 7444
24	MT-CO1; MT-TS1	m.7444G> A	single nucleotide variant	Pathogenic	rs199474822	GRCh38	Chromosome MT, 7444: 7444
25	MT-ND1	m.3388C> A	single nucleotide variant	Pathogenic	rs387906730	GRCh38	Chromosome MT, 3388: 3388
26	MT-ND1	m.3388C> A	single nucleotide variant	Pathogenic	rs387906730	GRCh37	Chromosome MT, 3388: 3388
27	MT-TH	m.12201T> C	single nucleotide variant	Pathogenic	rs387906733	GRCh38	Chromosome MT, 12201: 12201
28	MT-TH	m.12201T> C	single nucleotide variant	Pathogenic	rs387906733	GRCh37	Chromosome MT, 12201: 12201
29	MT-TS1	m.7443A> G	single nucleotide variant	Pathogenic	rs397507452	GRCh38	Chromosome MT, 7443: 7443
30	MT-TS1	m.7443A> G	single nucleotide variant	Pathogenic	rs397507452	GRCh37	Chromosome MT, 7443: 7443
31	MT-TS1	NC_012920.1: m.7505T> C	single nucleotide variant	Pathogenic	rs724159989	GRCh37	Chromosome MT, 7505: 7505
32	MT-TS1	NC_012920.1: m.7505T> C	single nucleotide variant	Pathogenic	rs724159989	GRCh38	Chromosome MT, 7505: 7505
33	MT-TS1	m.7471_7472insC	duplication	Pathogenic	rs111033319	GRCh37	Chromosome MT, 7471: 7471
34	MT-TS1	m.7471_7472insC	duplication	Pathogenic	rs111033319	GRCh38	Chromosome MT, 7471: 7471
35	MT-RNR1	NC_012920.1: m.1027A> G	single nucleotide variant	Likely pathogenic	rs727504555	GRCh38	Chromosome MT, 1027: 1027
36	MT-RNR1	NC_012920.1: m.1027A> G	single nucleotide variant	Likely pathogenic	rs727504555	GRCh37	Chromosome MT, 1027: 1027

Sources

Expression for Deafness, Nonsyndromic Sensorineural, Mitochondrial

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

Sources

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 disease ³⁷ Alzheimers Disease ¹ Complex I biogenesis ⁶⁶ Electron Transport Chain ¹ Formation of ATP by chemiosmotic coupling ⁶⁶ Huntington disease ³⁷ Non-alcoholic fatty liver disease (NAFLD) ³⁷ Oxidative phosphorylation ³⁷ Oxidative phosphorylation ¹ Parkinson 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

Sources

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	9.63	MT-ATP8 MT-ND1 MT-ND4
3	mitochondrial respiratory chain complex IV	GO:0005751	9.5	MT-CO1 MT-CO2 MT-CO3
4	mitochondrial respiratory chain complex I	GO:0005747	9.46	MT-ND1 MT-ND2 MT-ND4 MT-ND5
5	mitochondrial proton-transporting ATP synthase complex	GO:0005753	9.43	MT-ATP6 MT-ATP8
6	respiratory chain complex IV	GO:0045277	9.43	MT-CO1 MT-CO2 MT-CO3
7	respiratory chain	GO:0070469	9.43	MT-CO1 MT-CO2 MT-ND1 MT-ND2 MT-ND4 MT-ND5
8	proton-transporting ATP synthase complex, coupling factor F(o)	GO:0045263	9.4	MT-ATP6 MT-ATP8
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 14)

#	Name	GO ID	Score	Top Affiliating Genes
1	oxidation-reduction process	GO:0055114	9.85	MT-CO1 MT-CO2 MT-ND1 MT-ND2 MT-ND4 MT-ND5
2	aging	GO:0007568	9.67	MT-ATP6 MT-CO1 MT-ND4
3	proton transmembrane transport	GO:1902600	9.61	MT-CO1 MT-CO2 MT-CO3
4	mitochondrial respiratory chain complex I assembly	GO:0032981	9.56	MT-ND1 MT-ND2 MT-ND4 MT-ND5
5	cerebellum development	GO:0021549	9.54	MT-CO1 MT-ND4
6	cristae formation	GO:0042407	9.52	MT-ATP6 MT-ATP8
7	ATP biosynthetic process	GO:0006754	9.51	MT-ATP6 MT-ATP8
8	mitochondrial electron transport, cytochrome c to oxygen	GO:0006123	9.5	MT-CO1 MT-CO2 MT-CO3
9	ATP synthesis coupled proton transport	GO:0015986	9.48	MT-ATP6 MT-ATP8
10	mitochondrial ATP synthesis coupled proton transport	GO:0042776	9.46	MT-ATP6 MT-ATP8
11	mitochondrial electron transport, NADH to ubiquinone	GO:0006120	9.46	MT-ND1 MT-ND2 MT-ND4 MT-ND5
12	electron transport coupled proton transport	GO:0015990	9.4	MT-CO1 MT-ND4
13	ATP synthesis coupled electron transport	GO:0042773	9.13	MT-CO2 MT-ND4 MT-ND5
14	aerobic respiration	GO:0009060	8.92	MT-CO1 MT-CO3 MT-ND1 MT-ND4

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

Sources

Sources for Deafness, Nonsyndromic Sensorineural, Mitochondrial

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 ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

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 NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

Deafness, Nonsyndromic Sensorineural, Mitochondrial (DFNM)

Aliases & Classifications for Deafness, Nonsyndromic Sensorineural, Mitochondrial

MalaCards integrated aliases for Deafness, Nonsyndromic Sensorineural, Mitochondrial:

Classifications:

External Ids:

Summaries for Deafness, Nonsyndromic Sensorineural, Mitochondrial

Related Diseases for Deafness, Nonsyndromic Sensorineural, Mitochondrial

Diseases in the Deafness, Nonsyndromic Sensorineural, Mitochondrial family:

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

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

Symptoms & Phenotypes for Deafness, Nonsyndromic Sensorineural, Mitochondrial

Clinical features from OMIM:

Drugs & Therapeutics for Deafness, Nonsyndromic Sensorineural, Mitochondrial

Genetic Tests for Deafness, Nonsyndromic Sensorineural, Mitochondrial

Genetic tests related to Deafness, Nonsyndromic Sensorineural, Mitochondrial:

Anatomical Context for Deafness, Nonsyndromic Sensorineural, Mitochondrial

MalaCards organs/tissues related to Deafness, Nonsyndromic Sensorineural, Mitochondrial:

Publications for Deafness, Nonsyndromic Sensorineural, Mitochondrial

Genes for Deafness, Nonsyndromic Sensorineural, Mitochondrial

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

Variations for Deafness, Nonsyndromic Sensorineural, Mitochondrial

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

Expression for Deafness, Nonsyndromic Sensorineural, Mitochondrial

Pathways for Deafness, Nonsyndromic Sensorineural, Mitochondrial

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

GO Terms for Deafness, Nonsyndromic Sensorineural, Mitochondrial

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

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

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

Sources for Deafness, Nonsyndromic Sensorineural, Mitochondrial