Non-Syndromic Genetic Deafness disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: NNS044 MIFTS: 25	Non-Syndromic Genetic Deafness Categories: Ear diseases, Rare diseases
Genes Variations Related diseases Pathways Expand all tables

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Aliases & Classifications for Non-Syndromic Genetic Deafness

MalaCards integrated aliases for Non-Syndromic Genetic Deafness:

Name: Non-Syndromic Genetic Deafness ⁶⁰

Isolated Genetic Deafness ⁶⁰

Characteristics:

Orphanet epidemiological data:

⁶⁰

non-syndromic genetic deafness
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Ear diseases

See all MalaCards categories (disease lists)

ICD10: ³⁵

Diseases of the ear and mastoid process

Other disorders of ear

Conductive and sensorineural hearing loss

Sensorineural hearing loss, unspecified

Orphanet: ⁶⁰

Rare otorhinolaryngological diseases

External Ids:

ICD10 via Orphanet ³⁵ H90.5

Orphanet ⁶⁰ ORPHA87884

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Summaries for Non-Syndromic Genetic Deafness

MalaCards based summary : Non-Syndromic Genetic Deafness, also known as isolated genetic deafness, is related to deafness, x-linked 2 and prelingual non-syndromic genetic deafness. An important gene associated with Non-Syndromic Genetic Deafness is MYO3A (Myosin IIIA), and among its related pathways/superpathways are Actin Nucleation by ARP-WASP Complex and RhoGDI Pathway. Related phenotypes are behavior/neurological and hearing/vestibular/ear

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Related Diseases for Non-Syndromic Genetic Deafness

Diseases related to Non-Syndromic Genetic Deafness via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 44)

#	Related Disease	Score	Top Affiliating Genes
1	deafness, x-linked 2	32.0	GJB2 POU3F4
2	prelingual non-syndromic genetic deafness	12.4
3	postlingual non-syndromic genetic deafness	12.4
4	deafness, autosomal recessive 77	10.4	MYO3A PJVK
5	deafness, autosomal dominant 1	10.4	MYO3A WFS1
6	auditory neuropathy spectrum disorder	10.4	OTOF PJVK
7	deafness, autosomal recessive 3	10.4	GJB2 MYO15A
8	deafness, autosomal recessive 28	10.3	GJB2 TRIOBP
9	deafness, autosomal recessive 21	10.3	GJB2 OTOG
10	deafness, autosomal recessive 35	10.3	COCH GRXCR1
11	deafness, autosomal recessive 85	10.3	MYO15A OTOF PJVK
12	deafness, autosomal recessive 83	10.3	MYO15A OTOF PJVK
13	deafness, autosomal recessive 59	10.3	GJB2 OTOF PJVK
14	auditory neuropathy, autosomal dominant, 1	10.3	GJB2 OTOF PJVK
15	deafness, autosomal recessive 9	10.3	GJB2 OTOF PJVK
16	dfnb1	10.3	GJB2 OTOF
17	deafness, autosomal dominant 11	10.3	MYO15A MYO6
18	hodgkin's lymphoma, nodular sclerosis	10.2	GJB2 MYO15A
19	deafness, autosomal dominant 48	10.2	MYH9 MYO15A MYO3A MYO6
20	deafness, autosomal dominant 17	10.2	MYH9 MYO15A MYO3A MYO6
21	autosomal dominant nonsyndromic deafness	10.2	COCH MYO6 WFS1
22	deafness, autosomal recessive 1a	10.2	GJB2 OTOF
23	deafness, autosomal recessive 49	10.2	GJB2 MARVELD2 POU3F4
24	deafness, autosomal recessive 26	10.2	GJB2 OTOF
25	deafness, autosomal recessive 37	10.2	MYH9 MYO15A MYO3A MYO6 TRIOBP
26	deafness, autosomal dominant 22	10.1	COCH MYH9 MYO15A MYO3A MYO6
27	deafness, autosomal recessive 2	10.1	GJB2 MYO15A MYO6 OTOF
28	deafness, autosomal dominant 2a	10.1	COCH GJB2 KCNQ4 WFS1
29	deafness, autosomal recessive	10.1	GIPC3 GRXCR1 MARVELD2 OTOF PJVK
30	deafness, autosomal recessive 16	10.1	COCH GJB2 OTOF WFS1
31	deafness, autosomal dominant 6	10.1	COCH GJB2 OTOF WFS1
32	deafness, autosomal recessive 4, with enlarged vestibular aqueduct	10.1	COCH GJB2 OTOF WFS1
33	deafness, autosomal recessive 6	10.1	GJB2 USH2A
34	deafness, autosomal recessive 30	10.1	GJB2 MYH9 MYO15A MYO3A MYO6
35	inner ear disease	10.0	COCH GJB2 KCNQ4 MYH9 WFS1
36	vestibular disease	10.0	COCH GJB2
37	autosomal recessive nonsyndromic deafness	10.0	GIPC3 GJB2 MYO15A OTOF OTOG TRIOBP
38	autosomal recessive nonsyndromic deafness 3	9.9	GJB2 MYH9 MYO15A MYO3A MYO6 OTOF
39	deafness, autosomal dominant 13	9.8	COCH GJB2 OTOF OTOG USH2A WFS1
40	auditory system disease	9.8	COCH GJB2 KCNQ4 MYH9 MYO15A OTOF
41	branchiootic syndrome 1	9.8	GJB2 GRXCR1 MARVELD2 OTOF OTOG PJVK
42	sensorineural hearing loss	9.2	COCH GIPC3 GJB2 KARS KCNQ4 MYH9
43	autosomal recessive non-syndromic sensorineural deafness type dfnb	9.1	GIPC3 GJB2 GRXCR1 KARS MARVELD2 MYH9
44	nonsyndromic deafness	8.3	CEACAM16 COCH GIPC3 GJB2 GRXCR1 KARS

Graphical network of the top 20 diseases related to Non-Syndromic Genetic Deafness:

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Symptoms & Phenotypes for Non-Syndromic Genetic Deafness

MGI Mouse Phenotypes related to Non-Syndromic Genetic Deafness:

⁴⁷

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	behavior/neurological	MP:0005386	9.93	GIPC3 GRXCR1 MARVELD2 MYO15A MYO3A MYO6
2	hearing/vestibular/ear	MP:0005377	9.91	CEACAM16 COCH GIPC3 GJB2 GRXCR1 KCNQ4
3	nervous system	MP:0003631	9.53	GIPC3 GJB2 GRXCR1 KCNQ4 MARVELD2 MYH9

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Drugs & Therapeutics for Non-Syndromic Genetic Deafness

Search Clinical Trials , NIH Clinical Center for Non-Syndromic Genetic Deafness

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Genetic Tests for Non-Syndromic Genetic Deafness

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Anatomical Context for Non-Syndromic Genetic Deafness

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Publications for Non-Syndromic Genetic Deafness

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Genes for Non-Syndromic Genetic Deafness

Genes related to Non-Syndromic Genetic Deafness (28 elite genes):

(show all 28)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	MYO3A	Myosin IIIA	Protein Coding	400	Pathogenic ⁶
2	GIPC3	GIPC PDZ Domain Containing Family Member 3	Protein Coding	400	Pathogenic ⁶
3	RDX	Radixin	Protein Coding	400	Pathogenic ⁶
4	MYH9	Myosin Heavy Chain 9	Protein Coding	400	Pathogenic ⁶
5	TRIOBP	TRIO And F-Actin Binding Protein	Protein Coding	400	Pathogenic ⁶
6	PJVK	Pejvakin	Protein Coding	400	Pathogenic ⁶
7	KCNQ4	Potassium Voltage-Gated Channel Subfamily Q Member 4	Protein Coding	400	Pathogenic ⁶
8	COCH	Cochlin	Protein Coding	400	Pathogenic ⁶
9	KARS	Lysyl-TRNA Synthetase	Protein Coding	400	Pathogenic ⁶
10	OTOF	Otoferlin	Protein Coding	400	Pathogenic ⁶
11	MARVELD2	MARVEL Domain Containing 2	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶
12	MYO6	Myosin VI	Protein Coding	400	Pathogenic ⁶
13	OTOG	Otogelin	Protein Coding	400	Pathogenic/Likely pathogenic ⁶
14	POU3F4	POU Class 3 Homeobox 4	Protein Coding	400	Pathogenic ⁶
15	MYO15A	Myosin XVA	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶
16	USH2A	Usherin	Protein Coding	400	Pathogenic ⁶
17	CEACAM16	Carcinoembryonic Antigen Related Cell Adhesion Molecule 16	Protein Coding	400	Pathogenic ⁶
18	GJB2	Gap Junction Protein Beta 2	Protein Coding	400	Pathogenic/Likely pathogenic ⁶ Pathogenic ⁶
19	GRXCR1	Glutaredoxin And Cysteine Rich Domain Containing 1	Protein Coding	400	Pathogenic ⁶
20	WFS1	Wolframin ER Transmembrane Glycoprotein	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶
21	TMC1	Transmembrane Channel Like 1	Protein Coding	400	Pathogenic/Likely pathogenic ⁶ Pathogenic ⁶
22	TECTA	Tectorin Alpha	Protein Coding	400	Pathogenic ⁶
23	TMPRSS3	Transmembrane Serine Protease 3	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶
24	STRC	Stereocilin	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶
25	LOXHD1	Lipoxygenase Homology Domains 1	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶
26	OTOGL	Otogelin Like	Protein Coding	400	Pathogenic ⁶
27	OTOA	Otoancorin	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶
28	GSDME	Gasdermin E	Protein Coding	400	Pathogenic ⁶

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Variations for Non-Syndromic Genetic Deafness

ClinVar genetic disease variations for Non-Syndromic Genetic Deafness:

⁶ (show top 50) (show all 598)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	GJB2	NM_004004.5(GJB2): c.647_650delGATA (p.Arg216Ilefs)	deletion	Pathogenic/Likely pathogenic	rs587783647	GRCh37	Chromosome 13, 20763071: 20763074
2	GJB2	NM_004004.5(GJB2): c.647_650delGATA (p.Arg216Ilefs)	deletion	Pathogenic/Likely pathogenic	rs587783647	GRCh38	Chromosome 13, 20188932: 20188935
3	GJB2	NM_004004.5(GJB2): c.298C> T (p.His100Tyr)	single nucleotide variant	Pathogenic/Likely pathogenic	rs143343083	GRCh37	Chromosome 13, 20763423: 20763423
4	GJB2	NM_004004.5(GJB2): c.298C> T (p.His100Tyr)	single nucleotide variant	Pathogenic/Likely pathogenic	rs143343083	GRCh38	Chromosome 13, 20189284: 20189284
5	KCNQ4	NM_004700.3(KCNQ4): c.459delC (p.Ala154Profs)	deletion	Pathogenic	rs727504635	GRCh38	Chromosome 1, 40818217: 40818217
6	KCNQ4	NM_004700.3(KCNQ4): c.459delC (p.Ala154Profs)	deletion	Pathogenic	rs727504635	GRCh37	Chromosome 1, 41283889: 41283889
7	OTOF	NM_194248.2(OTOF): c.3178delG (p.Ala1060Glnfs)	deletion	Pathogenic	rs727504639	GRCh38	Chromosome 2, 26474623: 26474623
8	OTOF	NM_194248.2(OTOF): c.3178delG (p.Ala1060Glnfs)	deletion	Pathogenic	rs727504639	GRCh37	Chromosome 2, 26697491: 26697491
9	OTOF	NM_194248.2(OTOF): c.2991+2T> G	single nucleotide variant	Pathogenic	rs370132645	GRCh38	Chromosome 2, 26475912: 26475912
10	OTOF	NM_194248.2(OTOF): c.2991+2T> G	single nucleotide variant	Pathogenic	rs370132645	GRCh37	Chromosome 2, 26698780: 26698780
11	OTOF	NM_194248.2(OTOF): c.2818C> T (p.Gln940Ter)	single nucleotide variant	Pathogenic	rs727504936	GRCh38	Chromosome 2, 26476176: 26476176
12	OTOF	NM_194248.2(OTOF): c.2818C> T (p.Gln940Ter)	single nucleotide variant	Pathogenic	rs727504936	GRCh37	Chromosome 2, 26699044: 26699044
13	OTOF	NM_194323.2(OTOF): c.3624delG (p.Leu1209Cysfs)	deletion	Likely pathogenic	rs727505359	GRCh37	Chromosome 2, 26680977: 26680977
14	OTOF	NM_194323.2(OTOF): c.3624delG (p.Leu1209Cysfs)	deletion	Likely pathogenic	rs727505359	GRCh38	Chromosome 2, 26458109: 26458109
15	OTOF	NM_194248.2(OTOF): c.5925delG (p.Leu1976Serfs)	deletion	Likely pathogenic	rs111033384	GRCh38	Chromosome 2, 26460094: 26460094
16	OTOF	NM_194248.2(OTOF): c.5925delG (p.Leu1976Serfs)	deletion	Likely pathogenic	rs111033384	GRCh37	Chromosome 2, 26682962: 26682962
17	OTOF	NM_194248.2(OTOF): c.5203delC (p.Arg1735Glyfs)	deletion	Pathogenic	rs727503352	GRCh37	Chromosome 2, 26685039: 26685039
18	OTOF	NM_194248.2(OTOF): c.5203delC (p.Arg1735Glyfs)	deletion	Pathogenic	rs727503352	GRCh38	Chromosome 2, 26462171: 26462171
19	OTOF	NM_194248.2(OTOF): c.4799+1G> A	single nucleotide variant	Pathogenic	rs200147906	GRCh37	Chromosome 2, 26688539: 26688539
20	OTOF	NM_194248.2(OTOF): c.4799+1G> A	single nucleotide variant	Pathogenic	rs200147906	GRCh38	Chromosome 2, 26465671: 26465671
21	OTOF	NM_194248.2(OTOF): c.2977_2978delAG (p.Gln994Valfs)	deletion	Pathogenic	rs397515597	GRCh37	Chromosome 2, 26698795: 26698796
22	OTOF	NM_194248.2(OTOF): c.2977_2978delAG (p.Gln994Valfs)	deletion	Pathogenic	rs397515597	GRCh38	Chromosome 2, 26475927: 26475928
23	MYO6	NM_004999.4(MYO6): c.238C> T (p.Arg80Ter)	single nucleotide variant	Likely pathogenic	rs727504567	GRCh37	Chromosome 6, 76538307: 76538307
24	MYO6	NM_004999.4(MYO6): c.238C> T (p.Arg80Ter)	single nucleotide variant	Likely pathogenic	rs727504567	GRCh38	Chromosome 6, 75828590: 75828590
25	MYO6	NM_004999.3(MYO6): c.826C> T (p.Arg276Ter)	single nucleotide variant	Pathogenic	rs727503326	GRCh37	Chromosome 6, 76554623: 76554623
26	MYO6	NM_004999.3(MYO6): c.826C> T (p.Arg276Ter)	single nucleotide variant	Pathogenic	rs727503326	GRCh38	Chromosome 6, 75844906: 75844906
27	MYO6	NM_004999.3(MYO6): c.1383G> C (p.Glu461Asp)	single nucleotide variant	Likely pathogenic	rs727504548	GRCh37	Chromosome 6, 76568620: 76568620
28	MYO6	NM_004999.3(MYO6): c.1383G> C (p.Glu461Asp)	single nucleotide variant	Likely pathogenic	rs727504548	GRCh38	Chromosome 6, 75858903: 75858903
29	MYO6	NM_004999.4(MYO6): c.2836C> T (p.Arg946Cys)	single nucleotide variant	Likely benign	rs141845119	GRCh37	Chromosome 6, 76599951: 76599951
30	MYO6	NM_004999.4(MYO6): c.2836C> T (p.Arg946Cys)	single nucleotide variant	Likely benign	rs141845119	GRCh38	Chromosome 6, 75890234: 75890234
31	MYO6	NM_004999.3(MYO6)	indel	Likely pathogenic	rs727505015	GRCh38	Chromosome 6, 75907635: 75907640
32	MYO6	NM_004999.3(MYO6)	indel	Likely pathogenic	rs727505015	GRCh37	Chromosome 6, 76617352: 76617357
33	SLC26A5	NM_206883.2(SLC26A5): c.1514+1G> A	single nucleotide variant	not provided	rs727504481	GRCh37	Chromosome 7, 103029454: 103029454
34	SLC26A5	NM_206883.2(SLC26A5): c.1514+1G> A	single nucleotide variant	not provided	rs727504481	GRCh38	Chromosome 7, 103389007: 103389007
35	GSDME	NM_004403.2(GSDME): c.991-15_991-13delTTC	deletion	Pathogenic	rs727505273	GRCh37	Chromosome 7, 24746008: 24746010
36	GSDME	NM_004403.2(GSDME): c.991-15_991-13delTTC	deletion	Pathogenic	rs727505273	GRCh38	Chromosome 7, 24706389: 24706391
37	EYA4	NM_004100.4: c.724_(804_?)del	deletion	Conflicting interpretations of pathogenicity		GRCh37	Chromosome 6, 133783902: 133785996
38	EYA4	NM_004100.4: c.724_(804_?)del	deletion	Conflicting interpretations of pathogenicity		GRCh38	Chromosome 6, 133462764: 133464858
39	TMC1	NM_138691.2(TMC1): c.1333C> T (p.Arg445Cys)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs372710475	GRCh38	Chromosome 9, 72791994: 72791994
40	TMC1	NM_138691.2(TMC1): c.1333C> T (p.Arg445Cys)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs372710475	GRCh37	Chromosome 9, 75406910: 75406910
41	LRTOMT	NM_001145308.4(LRTOMT): c.358+4A> C	single nucleotide variant	Likely pathogenic	rs545947177	GRCh37	Chromosome 11, 71817260: 71817260
42	LRTOMT	NM_001145308.4(LRTOMT): c.358+4A> C	single nucleotide variant	Likely pathogenic	rs545947177	GRCh38	Chromosome 11, 72106214: 72106214
43	TMC1	NM_138691.2(TMC1): c.22delA (p.Ile8Serfs)	deletion	Pathogenic	rs727504554	GRCh38	Chromosome 9, 72688714: 72688714
44	TMC1	NM_138691.2(TMC1): c.22delA (p.Ile8Serfs)	deletion	Pathogenic	rs727504554	GRCh37	Chromosome 9, 75303630: 75303630
45	TECTA	NM_005422.2(TECTA): c.701A> G (p.Gln234Arg)	single nucleotide variant	Likely benign	rs144682235	GRCh38	Chromosome 11, 121113629: 121113629
46	TECTA	NM_005422.2(TECTA): c.701A> G (p.Gln234Arg)	single nucleotide variant	Likely benign	rs144682235	GRCh37	Chromosome 11, 120984338: 120984338
47	TECTA	NM_005422.2(TECTA): c.1436C> T (p.Pro479Leu)	single nucleotide variant	Benign	rs35107075	GRCh37	Chromosome 11, 120996243: 120996243
48	TECTA	NM_005422.2(TECTA): c.1436C> T (p.Pro479Leu)	single nucleotide variant	Benign	rs35107075	GRCh38	Chromosome 11, 121125534: 121125534
49	TECTA	NM_005422.2(TECTA): c.6155G> A (p.Cys2052Tyr)	single nucleotide variant	Likely pathogenic	rs727503467	GRCh37	Chromosome 11, 121058696: 121058696
50	TECTA	NM_005422.2(TECTA): c.6155G> A (p.Cys2052Tyr)	single nucleotide variant	Likely pathogenic	rs727503467	GRCh38	Chromosome 11, 121187987: 121187987

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Expression for Non-Syndromic Genetic Deafness

Search GEO for disease gene expression data for Non-Syndromic Genetic Deafness.

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Pathways for Non-Syndromic Genetic Deafness

Pathways related to Non-Syndromic Genetic Deafness according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Actin Nucleation by ARP-WASP Complex ⁶⁵ Show member pathways Actin Nucleation and Branching ⁶⁵ CDC42 Pathway ⁶⁵ RhoA Pathway ⁶⁵	12.55	MYH9 MYO15A MYO3A MYO6 RDX
2	RhoGDI Pathway ⁶⁵ Show member pathways Fc-GammaR-Mediated Phagocytosis in Macrophages ⁶⁵	11.84	MYH9 MYO15A MYO3A MYO6
3	G-protein signaling Regulation of p38 and JNK signaling mediated by G-proteins ²³ Show member pathways G-protein signaling G-Protein alpha-12 signaling pathway ²³	11.76	MYH9 MYO15A MYO3A MYO6 RDX
4	Cytoskeleton remodeling_RalA regulation pathway ²³	10.57	MYH9 MYO15A MYO3A MYO6 RDX
5	Cytoskeleton remodeling_RalB regulation pathway ²³	10.4	MYH9 MYO15A MYO3A MYO6

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GO Terms for Non-Syndromic Genetic Deafness

Cellular components related to Non-Syndromic Genetic Deafness according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	cell projection	GO:0042995	9.85	GRXCR1 MYO15A MYO3A MYO6 RDX USH2A
2	apical plasma membrane	GO:0016324	9.73	MARVELD2 OTOG RDX USH2A
3	ruffle	GO:0001726	9.5	MYH9 MYO6 RDX
4	filamentous actin	GO:0031941	9.46	MYO3A MYO6
5	stereocilium tip	GO:0032426	9.4	CEACAM16 MYO3A
6	microvillus	GO:0005902	9.33	GRXCR1 MYO6 RDX
7	stereocilium bundle	GO:0032421	9.26	MYO15A USH2A
8	myosin complex	GO:0016459	9.26	MYH9 MYO15A MYO3A MYO6
9	stereocilium	GO:0032420	8.92	GRXCR1 MYO15A MYO3A RDX

Biological processes related to Non-Syndromic Genetic Deafness according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	regulation of cell shape	GO:0008360	9.54	COCH MYH9 RDX
2	sensory perception of sound	GO:0007605	9.53	CEACAM16 COCH GJB2 GRXCR1 KCNQ4 MARVELD2
3	cochlea morphogenesis	GO:0090103	9.32	MYO3A POU3F4
4	actin filament-based movement	GO:0030048	9.26	MYH9 MYO6
5	establishment of endothelial barrier	GO:0061028	9.16	MARVELD2 RDX
6	barbed-end actin filament capping	GO:0051016	8.96	RDX TRIOBP

Molecular functions related to Non-Syndromic Genetic Deafness according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	actin binding	GO:0003779	9.65	MYH9 MYO15A MYO3A MYO6 RDX
2	microfilament motor activity	GO:0000146	9.37	MYH9 MYO3A
3	ADP binding	GO:0043531	9.33	MYH9 MYO3A MYO6
4	actin-dependent ATPase activity	GO:0030898	9.32	MYH9 MYO3A
5	motor activity	GO:0003774	9.26	MYH9 MYO15A MYO3A MYO6
6	calmodulin binding	GO:0005516	9.1	KCNQ4 MYH9 MYO15A MYO3A MYO6 WFS1

Sources

Sources for Non-Syndromic Genetic Deafness

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 FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia