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

MCID: NNS044 MIFTS: 21	Non-Syndromic Genetic Deafness Categories: Ear diseases, Rare diseases
Genes Variations Related diseases Download Expand all tables

Sources

Aliases & Classifications for Non-Syndromic Genetic Deafness

MalaCards integrated aliases for Non-Syndromic Genetic Deafness:

Name: Non-Syndromic Genetic Deafness ⁵⁹

Isolated Genetic Deafness ⁵⁹

Characteristics:

Orphanet epidemiological data:

⁵⁹

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: ³⁴

Diseases of the ear and mastoid process

Other disorders of ear

Conductive and sensorineural hearing loss

Sensorineural hearing loss, unspecified

Orphanet: ⁵⁹

Rare otorhinolaryngological diseases

External Ids:

Orphanet ⁵⁹ ORPHA87884

ICD10 via Orphanet ³⁴ H90.5

Sources

Summaries for Non-Syndromic Genetic Deafness

MalaCards based summary : Non-Syndromic Genetic Deafness, also known as isolated genetic deafness, is related to prelingual non-syndromic genetic deafness and postlingual non-syndromic genetic deafness. An important gene associated with Non-Syndromic Genetic Deafness is MYO15A (Myosin XVA). Related phenotypes are hearing/vestibular/ear and behavior/neurological

Sources

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 47)

#	Related Disease	Score	Top Affiliating Genes
1	prelingual non-syndromic genetic deafness	12.2
2	postlingual non-syndromic genetic deafness	12.2
3	deafness, autosomal recessive 3	11.0	GJB2 MYO15A
4	branchiootic syndrome 1	11.0	GJB2 LOXHD1
5	deafness, autosomal recessive 21	10.9	GJB2 TECTA
6	deafness, autosomal recessive 7	10.9	GJB2 TMC1
7	deafness, autosomal recessive 8	10.8	STRC TMPRSS3
8	deafness, x-linked 2	10.8	GJB2 POU3F4
9	deafness, autosomal recessive 28	10.8	GJB2 TRIOBP
10	deafness, autosomal recessive 30	10.8	GJB2 MYO15A TMC1
11	deafness, autosomal dominant 36	10.8	GJB2 TMC1
12	deafness, autosomal recessive 77	10.8	LOXHD1 PJVK
13	deafness, autosomal recessive 2	10.8	GJB2 MYO15A TECTA
14	deafness, autosomal recessive 59	10.8	GJB2 PJVK
15	deafness, autosomal recessive 24	10.8	RDX TMPRSS3
16	auditory neuropathy, autosomal dominant, 1	10.7	GJB2 PJVK
17	deafness, autosomal recessive 26	10.7	GJB2 TECTA
18	deafness, autosomal recessive 4, with enlarged vestibular aqueduct	10.7	COCH GJB2 WFS1
19	deafness, autosomal dominant 11	10.7	GSDME MYO15A
20	deafness, autosomal dominant 22	10.7	COCH MYO15A
21	hodgkin's lymphoma, nodular sclerosis	10.6	GJB2 MYO15A STRC TMC1
22	deafness, autosomal recessive 9	10.6	GJB2 PJVK TECTA
23	deafness, autosomal dominant 12	10.6	GSDME TECTA
24	deafness, autosomal recessive 37	10.6	MYO15A TRIOBP
25	deafness, autosomal recessive 49	10.6	GJB2 MARVELD2 POU3F4
26	deafness, autosomal recessive 85	10.5	MYO15A OTOA PJVK TMPRSS3
27	deafness, autosomal recessive 83	10.5	MYO15A OTOA PJVK TMPRSS3
28	deafness, autosomal dominant 9	10.5	COCH GSDME STRC
29	autosomal recessive nonsyndromic deafness 3	10.5	GJB2 MYO15A PJVK TECTA
30	deafness, autosomal dominant 17	10.5	GSDME MYO15A
31	vestibular disease	10.5	COCH GJB2
32	deafness, autosomal recessive 16	10.3	COCH GJB2 STRC TMPRSS3 WFS1
33	deafness, autosomal recessive 6	10.3	GJB2 USH2A
34	inner ear disease	10.3	COCH GJB2 KCNQ4 WFS1
35	trehalase deficiency	10.3	GJB2 MYO15A TMPRSS3 USH2A WFS1
36	deafness, autosomal dominant 2a	10.2	COCH GJB2 KCNQ4 TMPRSS3 WFS1
37	autosomal recessive nonsyndromic deafness	10.1	GIPC3 GJB2 MYO15A TMC1 TMPRSS3 TRIOBP
38	deafness, autosomal recessive 67	10.0	GJB2 PJVK
39	deafness, autosomal dominant 6	10.0	COCH GJB2 GSDME STRC TMPRSS3 WFS1
40	deafness, autosomal dominant 13	9.7	COCH GJB2 GSDME STRC TMPRSS3 USH2A
41	autosomal dominant non-syndromic sensorineural deafness type dfna	9.6	COCH GJB2 GSDME KCNQ4 TECTA TMC1
42	auditory system disease	9.3	COCH GJB2 KCNQ4 MYO15A POU3F4 STRC
43	deafness, autosomal recessive	9.3	GIPC3 GJB2 KARS LOXHD1 MARVELD2 OTOA
44	autosomal dominant nonsyndromic deafness	9.2	COCH GJB2 GSDME KCNQ4 PJVK TECTA
45	sensorineural hearing loss	8.6	COCH GIPC3 GJB2 GSDME KCNQ4 MYO15A
46	autosomal recessive non-syndromic sensorineural deafness type dfnb	8.0	GIPC3 GJB2 KARS LOXHD1 MARVELD2 MYO15A
47	nonsyndromic deafness	6.3	COCH GIPC3 GJB2 GSDME KARS KCNQ4

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

Sources

Symptoms & Phenotypes for Non-Syndromic Genetic Deafness

MGI Mouse Phenotypes related to Non-Syndromic Genetic Deafness:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	hearing/vestibular/ear	MP:0005377	9.89	COCH GIPC3 GJB2 GSDME KCNQ4 MARVELD2
2	behavior/neurological	MP:0005386	9.85	GIPC3 MARVELD2 MYO15A PJVK POU3F4 RDX
3	nervous system	MP:0003631	9.53	OTOA PJVK POU3F4 RDX STRC TECTA

Sources

Drugs & Therapeutics for Non-Syndromic Genetic Deafness

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

Sources

Genetic Tests for Non-Syndromic Genetic Deafness

Sources

Anatomical Context for Non-Syndromic Genetic Deafness

Sources

Publications for Non-Syndromic Genetic Deafness

Sources

Genes for Non-Syndromic Genetic Deafness

Genes related to Non-Syndromic Genetic Deafness (26 elite genes):

(show all 27)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	MYO15A	Myosin XVA	Protein Coding	425	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶
2	TMC1	Transmembrane Channel Like 1	Protein Coding	425	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶
3	TMPRSS3	Transmembrane Serine Protease 3	Protein Coding	425	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶
4	WFS1	Wolframin ER Transmembrane Glycoprotein	Protein Coding	425	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶
5	LOXHD1	Lipoxygenase Homology Domains 1	Protein Coding	425	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶
6	OTOA	Otoancorin	Protein Coding	425	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶
7	GJB2	Gap Junction Protein Beta 2	Protein Coding	425	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶
8	TECTA	Tectorin Alpha	Protein Coding	400	Pathogenic ⁶
9	STRC	Stereocilin	Protein Coding	400	Pathogenic ⁶
10	RDX	Radixin	Protein Coding	400	Pathogenic ⁶
11	POU3F4	POU Class 3 Homeobox 4	Protein Coding	400	Pathogenic ⁶
12	GIPC3	GIPC PDZ Domain Containing Family Member 3	Protein Coding	400	Pathogenic ⁶
13	COCH	Cochlin	Protein Coding	400	Pathogenic ⁶
14	USH2A	Usherin	Protein Coding	400	Pathogenic ⁶
15	TRIOBP	TRIO And F-Actin Binding Protein	Protein Coding	400	Pathogenic ⁶
16	KARS	Lysyl-TRNA Synthetase	Protein Coding	400	Pathogenic ⁶
17	PJVK	Pejvakin	Protein Coding	400	Pathogenic ⁶
18	MARVELD2	MARVEL Domain Containing 2	Protein Coding	400	Pathogenic ⁶
19	GSDME	Gasdermin E	Protein Coding	400	Pathogenic ⁶
20	KCNQ4	Potassium Voltage-Gated Channel Subfamily Q Member 4	Protein Coding	400	Pathogenic ⁶
21	MYH9	Myosin Heavy Chain 9	Protein Coding	400	Pathogenic ⁶
22	GRXCR1	Glutaredoxin And Cysteine Rich Domain Containing 1	Protein Coding	400	Pathogenic ⁶
23	OTOF	Otoferlin	Protein Coding	400	Pathogenic ⁶
24	OTOGL	Otogelin Like	Protein Coding	400	Pathogenic ⁶
25	CEACAM16	Carcinoembryonic Antigen Related Cell Adhesion Molecule 16	Protein Coding	400	Pathogenic ⁶
26	MYO6	Myosin VI	Protein Coding	400	Pathogenic ⁶
27	OTOG	Otogelin	Protein Coding	25	Pathogenic/Likely pathogenic ⁶

Sources

Variations for Non-Syndromic Genetic Deafness

ClinVar genetic disease variations for Non-Syndromic Genetic Deafness:

⁶

(show top 50) (show all 551)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	LRTOMT	NM_001145308.4(LRTOMT): c.242G> A (p.Arg81Gln)	single nucleotide variant	Likely pathogenic	rs137853185	GRCh37	Chromosome 11, 71817140: 71817140
2	LRTOMT	NM_001145308.4(LRTOMT): c.242G> A (p.Arg81Gln)	single nucleotide variant	Likely pathogenic	rs137853185	GRCh38	Chromosome 11, 72106094: 72106094
3	MARVELD2	NM_001038603.2(MARVELD2): c.1498C> T (p.Arg500Ter)	single nucleotide variant	Pathogenic	rs118203957	GRCh37	Chromosome 5, 68728915: 68728915
4	MARVELD2	NM_001038603.2(MARVELD2): c.1498C> T (p.Arg500Ter)	single nucleotide variant	Pathogenic	rs118203957	GRCh38	Chromosome 5, 69433088: 69433088
5	PJVK	NM_001042702.3(PJVK): c.499C> T (p.Arg167Ter)	single nucleotide variant	Pathogenic	rs118203989	GRCh37	Chromosome 2, 179320828: 179320828
6	PJVK	NM_001042702.3(PJVK): c.499C> T (p.Arg167Ter)	single nucleotide variant	Pathogenic	rs118203989	GRCh38	Chromosome 2, 178456101: 178456101
7	TMC1	NM_138691.2(TMC1): c.1714G> A (p.Asp572Asn)	single nucleotide variant	Pathogenic	rs121908072	GRCh37	Chromosome 9, 75431077: 75431077
8	TMC1	NM_138691.2(TMC1): c.1714G> A (p.Asp572Asn)	single nucleotide variant	Pathogenic	rs121908072	GRCh38	Chromosome 9, 72816161: 72816161
9	TMC1	NM_138691.2(TMC1): c.100C> T (p.Arg34Ter)	single nucleotide variant	Pathogenic	rs121908073	GRCh37	Chromosome 9, 75309494: 75309494
10	TMC1	NM_138691.2(TMC1): c.100C> T (p.Arg34Ter)	single nucleotide variant	Pathogenic	rs121908073	GRCh38	Chromosome 9, 72694578: 72694578
11	WFS1	NM_006005.3(WFS1): c.2146G> A (p.Ala716Thr)	single nucleotide variant	Pathogenic/Likely pathogenic	rs28937893	GRCh37	Chromosome 4, 6303668: 6303668
12	WFS1	NM_006005.3(WFS1): c.2146G> A (p.Ala716Thr)	single nucleotide variant	Pathogenic/Likely pathogenic	rs28937893	GRCh38	Chromosome 4, 6301941: 6301941
13	WFS1	NM_006005.3(WFS1): c.2590G> A (p.Glu864Lys)	single nucleotide variant	Pathogenic/Likely pathogenic	rs74315205	GRCh37	Chromosome 4, 6304112: 6304112
14	WFS1	NM_006005.3(WFS1): c.2590G> A (p.Glu864Lys)	single nucleotide variant	Pathogenic/Likely pathogenic	rs74315205	GRCh38	Chromosome 4, 6302385: 6302385
15	PCDH15	NM_033056.3(PCDH15): c.400C> G (p.Arg134Gly)	single nucleotide variant	Likely pathogenic	rs137853003	GRCh37	Chromosome 10, 56128954: 56128954
16	PCDH15	NM_033056.3(PCDH15): c.400C> G (p.Arg134Gly)	single nucleotide variant	Likely pathogenic	rs137853003	GRCh38	Chromosome 10, 54369194: 54369194
17	OTOF	NM_194248.2(OTOF): c.4491T> A (p.Tyr1497Ter)	single nucleotide variant	Pathogenic	rs80356600	GRCh37	Chromosome 2, 26689591: 26689591
18	OTOF	NM_194248.2(OTOF): c.4491T> A (p.Tyr1497Ter)	single nucleotide variant	Pathogenic	rs80356600	GRCh38	Chromosome 2, 26466723: 26466723
19	OTOF	NM_194248.2(OTOF): c.2485C> T (p.Gln829Ter)	single nucleotide variant	Pathogenic	rs80356593	GRCh37	Chromosome 2, 26700078: 26700078
20	OTOF	NM_194248.2(OTOF): c.2485C> T (p.Gln829Ter)	single nucleotide variant	Pathogenic	rs80356593	GRCh38	Chromosome 2, 26477210: 26477210
21	OTOF	NM_194248.2(OTOF): c.1544T> C (p.Ile515Thr)	single nucleotide variant	Likely pathogenic	rs80356586	GRCh37	Chromosome 2, 26705309: 26705309
22	OTOF	NM_194248.2(OTOF): c.1544T> C (p.Ile515Thr)	single nucleotide variant	Likely pathogenic	rs80356586	GRCh38	Chromosome 2, 26482441: 26482441
23	KCNQ4	NM_004700.3(KCNQ4): c.853G> A (p.Gly285Ser)	single nucleotide variant	Likely pathogenic	rs28937588	GRCh37	Chromosome 1, 41285565: 41285565
24	KCNQ4	NM_004700.3(KCNQ4): c.853G> A (p.Gly285Ser)	single nucleotide variant	Likely pathogenic	rs28937588	GRCh38	Chromosome 1, 40819893: 40819893
25	KCNQ4	NM_004700.3(KCNQ4): c.827G> C (p.Trp276Ser)	single nucleotide variant	Pathogenic	rs80358277	GRCh37	Chromosome 1, 41285137: 41285137
26	KCNQ4	NM_004700.3(KCNQ4): c.827G> C (p.Trp276Ser)	single nucleotide variant	Pathogenic	rs80358277	GRCh38	Chromosome 1, 40819465: 40819465
27	COCH	NM_004086.2(COCH): c.151C> T (p.Pro51Ser)	single nucleotide variant	Pathogenic	rs28938175	GRCh37	Chromosome 14, 31346846: 31346846
28	COCH	NM_004086.2(COCH): c.151C> T (p.Pro51Ser)	single nucleotide variant	Pathogenic	rs28938175	GRCh38	Chromosome 14, 30877640: 30877640
29	COCH	NM_004086.2(COCH): c.1625G> T (p.Cys542Phe)	single nucleotide variant	Pathogenic	rs121908932	GRCh37	Chromosome 14, 31358969: 31358969
30	COCH	NM_004086.2(COCH): c.1625G> T (p.Cys542Phe)	single nucleotide variant	Pathogenic	rs121908932	GRCh38	Chromosome 14, 30889763: 30889763
31	MYO6	NM_004999.3(MYO6): c.737A> G (p.His246Arg)	single nucleotide variant	Likely pathogenic	rs121912560	GRCh37	Chromosome 6, 76551016: 76551016
32	MYO6	NM_004999.3(MYO6): c.737A> G (p.His246Arg)	single nucleotide variant	Likely pathogenic	rs121912560	GRCh38	Chromosome 6, 75841299: 75841299
33	MYO6	NM_004999.3(MYO6): c.2545C> T (p.Arg849Ter)	single nucleotide variant	Pathogenic	rs121912561	GRCh37	Chromosome 6, 76596598: 76596598
34	MYO6	NM_004999.3(MYO6): c.2545C> T (p.Arg849Ter)	single nucleotide variant	Pathogenic	rs121912561	GRCh38	Chromosome 6, 75886881: 75886881
35	GJB2	NM_004004.5(GJB2): c.231G> A (p.Trp77Ter)	single nucleotide variant	Pathogenic	rs80338944	GRCh37	Chromosome 13, 20763490: 20763490
36	GJB2	NM_004004.5(GJB2): c.231G> A (p.Trp77Ter)	single nucleotide variant	Pathogenic	rs80338944	GRCh38	Chromosome 13, 20189351: 20189351
37	GJB2	NM_004004.5(GJB2): c.71G> A (p.Trp24Ter)	single nucleotide variant	Pathogenic	rs104894396	GRCh37	Chromosome 13, 20763650: 20763650
38	GJB2	NM_004004.5(GJB2): c.71G> A (p.Trp24Ter)	single nucleotide variant	Pathogenic	rs104894396	GRCh38	Chromosome 13, 20189511: 20189511
39	GJB2	NM_004004.5(GJB2): c.229T> C (p.Trp77Arg)	single nucleotide variant	Pathogenic	rs104894397	GRCh37	Chromosome 13, 20763492: 20763492
40	GJB2	NM_004004.5(GJB2): c.229T> C (p.Trp77Arg)	single nucleotide variant	Pathogenic	rs104894397	GRCh38	Chromosome 13, 20189353: 20189353
41	GJB2	NM_004004.5(GJB2): c.35delG (p.Gly12Valfs)	deletion	Pathogenic	rs80338939	GRCh37	Chromosome 13, 20763686: 20763686
42	GJB2	NM_004004.5(GJB2): c.551G> C (p.Arg184Pro)	single nucleotide variant	Pathogenic/Likely pathogenic	rs80338950	GRCh37	Chromosome 13, 20763170: 20763170
43	GJB2	NM_004004.5(GJB2): c.551G> C (p.Arg184Pro)	single nucleotide variant	Pathogenic/Likely pathogenic	rs80338950	GRCh38	Chromosome 13, 20189031: 20189031
44	GJB2	NM_004004.5(GJB2): c.35delG (p.Gly12Valfs)	deletion	Pathogenic	rs80338939	GRCh38	Chromosome 13, 20189547: 20189547
45	GJB2	NM_004004.5(GJB2): c.139G> T (p.Glu47Ter)	single nucleotide variant	Pathogenic	rs104894398	GRCh37	Chromosome 13, 20763582: 20763582
46	GJB2	NM_004004.5(GJB2): c.139G> T (p.Glu47Ter)	single nucleotide variant	Pathogenic	rs104894398	GRCh38	Chromosome 13, 20189443: 20189443
47	GJB2	NM_004004.5(GJB2): c.358_360delGAG (p.Glu120del)	deletion	Pathogenic	rs80338947	GRCh37	Chromosome 13, 20763361: 20763363
48	GJB2	NM_004004.5(GJB2): c.358_360delGAG (p.Glu120del)	deletion	Pathogenic	rs80338947	GRCh38	Chromosome 13, 20189222: 20189224
49	GJB2	NM_004004.5(GJB2): c.427C> T (p.Arg143Trp)	single nucleotide variant	Pathogenic	rs80338948	GRCh37	Chromosome 13, 20763294: 20763294
50	GJB2	NM_004004.5(GJB2): c.427C> T (p.Arg143Trp)	single nucleotide variant	Pathogenic	rs80338948	GRCh38	Chromosome 13, 20189155: 20189155

Sources

Expression for Non-Syndromic Genetic Deafness

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

Sources

Pathways for Non-Syndromic Genetic Deafness

Sources

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	apical plasma membrane	GO:0016324	9.46	MARVELD2 OTOA RDX USH2A
2	stereocilium tip	GO:0032426	9.26	STRC TMC1
3	stereocilium	GO:0032420	9.02	LOXHD1 MYO15A RDX STRC TRIOBP
4	stereocilium bundle	GO:0032421	8.96	MYO15A USH2A

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

#	Name	GO ID	Score	Top Affiliating Genes
1	sensory perception of sound	GO:0007605	9.55	COCH GJB2 GSDME KCNQ4 LOXHD1 MARVELD2
2	cell-matrix adhesion	GO:0007160	9.54	OTOA STRC TECTA
3	establishment of endothelial barrier	GO:0061028	9.4	MARVELD2 RDX
4	barbed-end actin filament capping	GO:0051016	9.32	RDX TRIOBP
5	auditory receptor cell stereocilium organization	GO:0060088	9.26	STRC TRIOBP
6	detection of mechanical stimulus involved in sensory perception of sound	GO:0050910	9.16	STRC TMC1
7	inner ear receptor cell differentiation	GO:0060113	8.96	GSDME USH2A

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 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