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

MCID: NNS044 MIFTS: 30	Non-Syndromic Genetic Deafness Categories: Ear diseases, Rare diseases
Genes Variations Related diseases Publications 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 ⁵⁸ ⁶

Non-Syndromic Genetic Hearing Loss ⁵⁸

Isolated Genetic Hearing Loss ⁵⁸

Isolated Genetic Deafness ⁵⁸

Characteristics:

Orphanet epidemiological data:

⁵⁸

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: ³³

Diseases of the ear and mastoid process

Other disorders of ear

Conductive and sensorineural hearing loss

Sensorineural hearing loss, unspecified

Orphanet: ⁵⁸

Rare otorhinolaryngological diseases

External Ids:

ICD10 via Orphanet ³³ H90.5

Orphanet ⁵⁸ ORPHA87884

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Summaries for Non-Syndromic Genetic Deafness

MalaCards based summary : Non-Syndromic Genetic Deafness, also known as non-syndromic genetic hearing loss, is related to nonsyndromic deafness and deafness, autosomal dominant 3b. An important gene associated with Non-Syndromic Genetic Deafness is CEACAM16 (CEA Cell Adhesion Molecule 16, Tectorial Membrane Component), and among its related pathways/superpathways are RhoGDI Pathway and Cytoskeleton remodeling_RalA regulation pathway. Related phenotypes are hearing/vestibular/ear and nervous system

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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 top 50) (show all 110)

#	Related Disease	Score	Top Affiliating Genes
1	nonsyndromic deafness	10.4	KCNQ4 GJB2
2	deafness, autosomal dominant 3b	10.3	GJB2 CEACAM16
3	cogan syndrome	10.3	GJB2 COCH
4	acute hemorrhagic leukoencephalitis	10.3	KCNQ4 CDH23
5	deafness, autosomal dominant 28	10.3	KCNQ4 COCH
6	deafness, autosomal dominant 3a	10.3	GJB2 COCH
7	keratoderma, palmoplantar, with deafness	10.3	GJB2 CRYL1
8	deafness, autosomal recessive 6	10.2	TRIOBP CDH23
9	deafness, autosomal dominant 64	10.2	KCNQ4 GJB2 CEACAM16
10	deafness, autosomal recessive 49	10.2	MYO15A GJB2
11	deafness, autosomal dominant 20	10.2	KCNQ4 CDH23
12	deafness, autosomal dominant 41	10.2	KCNQ4 GJB2 CDH23
13	deafness, autosomal dominant 2a	10.2	KCNQ4 GJB2 COCH
14	deafness, autosomal recessive 39	10.2	TRIOBP GJB2
15	deafness, autosomal recessive 91	10.2	GJB2 COCH CDH23
16	deafness, autosomal recessive 35	10.2	TRIOBP CDH23
17	autosomal recessive nonsyndromic deafness 36	10.2	TRIOBP MYO3A
18	deafness, autosomal dominant 67	10.2	OTOF GJB2
19	deafness, autosomal recessive 77	10.2	MYO3A GJB2 CDH23
20	auditory neuropathy, autosomal dominant, 1	10.1	OTOF GJB2
21	deafness, autosomal recessive 25	10.1	TRIOBP MYO15A
22	deafness, autosomal dominant 12	10.1	TBCEL-TECTA KCNQ4 CEACAM16
23	deafness, autosomal recessive 22	10.1	TRIOBP MYO15A
24	deafness, autosomal dominant 18	10.1	MYO6 KCNQ4
25	deafness, autosomal dominant 43	10.1	MYO6 COCH
26	deafness, autosomal recessive 24	10.1	TRIOBP MYO15A
27	deafness, autosomal dominant 56	10.1	USH2A GJB2 COCH
28	deafness, autosomal recessive 62	10.1	MYO6 CDH23
29	y-linked monogenic disease	10.1	OTOF KCNQ4 CDH23
30	deafness, autosomal recessive 1b	10.0	MYO15A GJB2 CRYL1 CEACAM16
31	deafness, autosomal recessive 8	10.0	OTOF MYO15A GJB2
32	hereditary hearing loss and deafness	10.0	COCH CDH23
33	deafness, autosomal recessive 79	10.0	MYO3A MYO15A GJB2 CEACAM16
34	deafness, autosomal dominant 2b	10.0	TRIOBP KCNQ4 GJB2 COCH
35	deafness, autosomal dominant 10	10.0	MYO6 KCNQ4
36	deafness, autosomal recessive 21	10.0	TBCEL-TECTA MYO15A GJB2 CEACAM16
37	deafness, autosomal dominant 16	10.0	MYO6 KCNQ4 COCH
38	usher syndrome, type ih	10.0	MYO7A CDH23
39	drug-induced hearing loss	10.0	MYO7A GJB2
40	x-linked nonsyndromic deafness	10.0	OTOF GJB2
41	deafness, autosomal recessive 93	10.0	TRIOBP OTOF GJB2
42	deafness, autosomal recessive 15	10.0	MYO6 MYO15A CEACAM16
43	deafness, autosomal recessive 28	9.9	TRIOBP OTOF MYO15A
44	deafness, autosomal recessive 61	9.9	TRIOBP OTOF MYO3A
45	deafness, autosomal recessive 16	9.9	OTOF MYO15A GJB2 CDH23
46	labyrinthitis	9.9	MYO7A GJB2 COCH
47	deafness, autosomal recessive 3	9.9	MYO7A MYO15A GJB2
48	usher syndrome, type ic	9.9	MYO7A GJB2 CDH23
49	deafness, autosomal recessive 63	9.9	MYO7A MYO15A
50	otosclerosis	9.9	OTOF MYO15A GJB2 COCH

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:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	hearing/vestibular/ear	MP:0005377	9.73	CDH23 CEACAM16 COCH GJB2 KCNQ4 MYO15A
2	nervous system	MP:0003631	9.36	CDH23 GJB2 KARS1 KCNQ4 MYO15A MYO3A

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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

Articles related to Non-Syndromic Genetic Deafness:

#	Title	Authors	PMID	Year
1	An update of common autosomal recessive non-syndromic hearing loss genes in Iranian population. ⁶¹	Ghasemnejad T...Mansoori Derakhshan S	28483220	2017
2	Deafness on the island of Providencia - Colombia: different etiology, different genetic counseling. ⁶¹	Lattig MC...Tamayo ML	19239084	2008
3	[Pedigree analysis and sequence analysis of mtDNA 12srRNA, tRNA(Leu(UUR)), tRNA(Ser(UCN)) gene in nonsyndromic inherited deafness pedigrees]. ⁶¹	Li W...Cao J	15620132	2004
4	A novel type of myosin encoded by the mouse deafness gene shaker-2. ⁶¹	Wakabayashi Y...Kominami R	9703981	1998

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Genes for Non-Syndromic Genetic Deafness

Genes related to Non-Syndromic Genetic Deafness (13 elite genes):

(show all 16)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	CEACAM16	CEA Cell Adhesion Molecule 16, Tectorial Membrane Component	Protein Coding	425	Pathogenic ⁶ Likely pathogenic ⁶
2	GJB2	Gap Junction Protein Beta 2	Protein Coding	425	Pathogenic ⁶ Likely pathogenic ⁶
3	KCNQ4	Potassium Voltage-Gated Channel Subfamily Q Member 4	Protein Coding	425	Pathogenic ⁶ Likely pathogenic ⁶
4	CDH23	Cadherin Related 23	Protein Coding	400	Pathogenic ⁶
5	COCH	Cochlin	Protein Coding	400	Pathogenic ⁶
6	CRYL1	Crystallin Lambda 1	Protein Coding	400	Pathogenic ⁶
7	KARS1	Lysyl-TRNA Synthetase 1	Protein Coding	400	Pathogenic ⁶
8	MYO15A	Myosin XVA	Protein Coding	400	Pathogenic ⁶
9	MYO3A	Myosin IIIA	Protein Coding	400	Pathogenic ⁶
10	TBCEL-TECTA	TBCEL-TECTA Readthrough	Protein Coding	400	Pathogenic ⁶
11	TRIOBP	TRIO And F-Actin Binding Protein	Protein Coding	400	Pathogenic ⁶
12	USH2A	Usherin	Protein Coding	400	Pathogenic ⁶
13	USH2A-AS1	USH2A Antisense RNA 1	RNA Gene	400	Pathogenic ⁶
14	MYO6	Myosin VI	Protein Coding	25	Likely pathogenic ⁶
15	MYO7A	Myosin VIIA	Protein Coding	25	Likely pathogenic ⁶
16	OTOF	Otoferlin	Protein Coding	25	Likely 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 111)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	MYO15A	NM_016239.4(MYO15A):c.5851del (p.Ser1951fs)	Deletion	Pathogenic	179619	rs727504995	17:18046095-18046095	17:18142781-18142781
2	COCH	NM_004086.3(COCH):c.151C>T (p.Pro51Ser)	SNV	Pathogenic	6611	rs28938175	14:31346846-31346846	14:30877640-30877640
3	USH2A	NM_206933.3(USH2A):c.240_241insGTAC (p.Gln81fs)	Insertion	Pathogenic	242396	rs587776538	1:216595438-216595439	1:216422096-216422097
4	USH2A	NM_206933.3(USH2A):c.9685del (p.Glu3229fs)	Deletion	Pathogenic	236049	rs878853233	1:215987132-215987132	1:215813790-215813790
5	KARS1	NM_001130089.1(KARS1):c.517T>C (p.Tyr173His)	SNV	Pathogenic	60752	rs397514745	16:75670401-75670401	16:75636503-75636503
6	TRIOBP	NM_001039141.3(TRIOBP):c.6598C>T (p.Arg2200Ter)	SNV	Pathogenic	165613	rs727503528	22:38165057-38165057	22:37769050-37769050
7	MYO3A	NM_017433.5(MYO3A):c.2090T>G (p.Leu697Trp)	SNV	Pathogenic	617675	rs1564573788	10:26414513-26414513	10:26125584-26125584
8	GJB2	NM_004004.6(GJB2):c.516G>C (p.Trp172Cys)	SNV	Pathogenic	590799	rs1302739538	13:20763205-20763205	13:20189066-20189066
9	TBCEL-TECTA	NM_005422.2(TECTA):c.4085G>A (p.Trp1362Ter)	SNV	Pathogenic	498538	rs199638531	11:121016805-121016805	11:121146096-121146096
10	GJB2	NM_004004.6(GJB2):c.56G>C (p.Ser19Thr)	SNV	Pathogenic	21389	rs80338941	13:20763665-20763665	13:20189526-20189526
11	GJB2	NM_004004.6(GJB2):c.232dup (p.Ala78fs)	Duplication	Pathogenic	553568	rs1555341960	13:20763488-20763489	13:20189349-20189350
12	GJB2	NM_004004.6(GJB2):c.246C>G (p.Ile82Met)	SNV	Pathogenic	188756	rs781534323	13:20763475-20763475	13:20189336-20189336
13	GJB2	NM_004004.6(GJB2):c.59T>C (p.Ile20Thr)	SNV	Pathogenic	371766	rs1057517519	13:20763662-20763662	13:20189523-20189523
14	CRYL1		Deletion	Pathogenic	978789		13:20797127-21105945
15	CRYL1		Deletion	Pathogenic	978790		13:20802727-21034768
16	CDH23	NM_022124.6(CDH23):c.719C>T (p.Pro240Leu)	SNV	Pathogenic	4928	rs121908354	10:73330641-73330641	10:71570884-71570884
17	KCNQ4	NM_004700.4(KCNQ4):c.853G>A (p.Gly285Ser)	SNV	Pathogenic	6241	rs28937588	1:41285565-41285565	1:40819893-40819893
18	GJB2	NM_004004.6(GJB2):c.167del (p.Leu56fs)	Deletion	Pathogenic	17010	rs80338942	13:20763554-20763554	13:20189415-20189415
19	GJB2	NM_004004.6(GJB2):c.101T>C (p.Met34Thr)	SNV	Pathogenic	17000	rs35887622	13:20763620-20763620	13:20189481-20189481
20	GJB2	NM_004004.6(GJB2):c.109G>A (p.Val37Ile)	SNV	Pathogenic	17023	rs72474224	13:20763612-20763612	13:20189473-20189473
21	GJB2	NM_004004.6(GJB2):c.235del (p.Leu79fs)	Deletion	Pathogenic	17014	rs80338943	13:20763486-20763486	13:20189347-20189347
22	GJB2	NM_004004.6(GJB2):c.35del (p.Gly12fs)	Deletion	Pathogenic	17004	rs80338939	13:20763686-20763686	13:20189547-20189547
23	GJB2	NM_004004.6(GJB2):c.71G>A (p.Trp24Ter)	SNV	Pathogenic	17002	rs104894396	13:20763650-20763650	13:20189511-20189511
24	CEACAM16	NM_001039213.4(CEACAM16):c.703C>T (p.Arg235Cys)	SNV	Pathogenic	236048	rs746164064	19:45208901-45208901	19:44705631-44705631
25	GJB2	NM_004004.6(GJB2):c.-23+1G>A	SNV	Pathogenic	17029	rs80338940	13:20766921-20766921	13:20192782-20192782
26	GJB2	NM_004004.6(GJB2):c.35G>T (p.Gly12Val)	SNV	Pathogenic	21387	rs1801002	13:20763686-20763686	13:20189547-20189547
27	GJB2	NM_004004.6(GJB2):c.139G>T (p.Glu47Ter)	SNV	Pathogenic	17005	rs104894398	13:20763582-20763582	13:20189443-20189443
28	GJB2	NM_004004.6(GJB2):c.223C>T (p.Arg75Trp)	SNV	Pathogenic	17011	rs104894402	13:20763498-20763498	13:20189359-20189359
29	GJB2	NM_004004.6(GJB2):c.224G>A (p.Arg75Gln)	SNV	Pathogenic	17027	rs28931593	13:20763497-20763497	13:20189358-20189358
30	GJB2	NM_004004.6(GJB2):c.229T>C (p.Trp77Arg)	SNV	Pathogenic	17003	rs104894397	13:20763492-20763492	13:20189353-20189353
31	GJB2	NM_004004.6(GJB2):c.250G>C (p.Val84Leu)	SNV	Pathogenic	17032	rs104894409	13:20763471-20763471	13:20189332-20189332
32	GJB2	NM_004004.6(GJB2):c.269T>C (p.Leu90Pro)	SNV	Pathogenic	17016	rs80338945	13:20763452-20763452	13:20189313-20189313
33	GJB2	NM_004004.6(GJB2):c.269dup (p.Val91fs)	Duplication	Pathogenic	177737	rs730880338	13:20763451-20763452	13:20189312-20189313
34	GJB2	NM_004004.6(GJB2):c.283G>A (p.Val95Met)	SNV	Pathogenic	44735	rs111033299	13:20763438-20763438	13:20189299-20189299
35	GJB2	NM_004004.6(GJB2):c.313_326del (p.Lys105fs)	Deletion	Pathogenic	44737	rs111033253	13:20763395-20763408	13:20189256-20189269
36	GJB2	NM_004004.6(GJB2):c.334_335del (p.Lys112fs)	Deletion	Pathogenic	189051	rs756484720	13:20763386-20763387	13:20189247-20189248
37	GJB2	NM_004004.6(GJB2):c.355_357GAG[1] (p.Glu120del)	Microsatellite	Pathogenic	17006	rs80338947	13:20763361-20763363	13:20189222-20189224
38	GJB2	NM_004004.6(GJB2):c.427C>T (p.Arg143Trp)	SNV	Pathogenic	17009	rs80338948	13:20763294-20763294	13:20189155-20189155
39	GJB2	NM_004004.6(GJB2):c.439G>A (p.Glu147Lys)	SNV	Pathogenic	371709	rs767178508	13:20763282-20763282	13:20189143-20189143
40	GJB2	NM_004004.6(GJB2):c.617A>G (p.Asn206Ser)	SNV	Pathogenic	44763	rs111033294	13:20763104-20763104	13:20188965-20188965
41	GJB2	NM_004004.6(GJB2):c.551G>C (p.Arg184Pro)	SNV	Pathogenic	17007	rs80338950	13:20763170-20763170	13:20189031-20189031
42	KCNQ4	NM_004700.4(KCNQ4):c.803_805CCT[1] (p.Ser269del)	Microsatellite	Likely pathogenic	208366	rs797044966	1:41285111-41285113	1:40819439-40819441
43	GJB2	NM_004004.6(GJB2):c.563A>G (p.Lys188Arg)	SNV	Likely pathogenic	429984	rs1131691709	13:20763158-20763158	13:20189019-20189019
44	GJB2	NM_004004.6(GJB2):c.583A>G (p.Met195Val)	SNV	Likely pathogenic	225375	rs532203068	13:20763138-20763138	13:20188999-20188999
45	MYO7A	NM_000260.4(MYO7A):c.1183C>T (p.Arg395Cys)	SNV	Likely pathogenic	555138	rs782279338	11:76871311-76871311	11:77160265-77160265
46	GJB2	NM_004004.6(GJB2):c.227T>C (p.Leu76Pro)	SNV	Likely pathogenic	44731	rs111033361	13:20763494-20763494	13:20189355-20189355
47	GJB2	NM_004004.6(GJB2):c.110T>C (p.Val37Ala)	SNV	Likely pathogenic	449490	rs141774369	13:20763611-20763611	13:20189472-20189472
48	GJB2	NM_004004.6(GJB2):c.34G>T (p.Gly12Cys)	SNV	Likely pathogenic	44740	rs104894408	13:20763687-20763687	13:20189548-20189548
49	OTOF	NM_194248.3(OTOF):c.5332G>T (p.Val1778Phe)	SNV	Likely pathogenic	48258	rs111033330	2:26684765-26684765	2:26461897-26461897
50	MYO7A	NM_000260.4(MYO7A):c.2558G>A (p.Arg853His)	SNV	Likely pathogenic	43186	rs111033437	11:76890971-76890971	11:77179925-77179925

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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	RhoGDI Pathway ⁶³ Show member pathways Fc-GammaR-Mediated Phagocytosis in Macrophages ⁶³	11.64	MYO7A MYO6 MYO3A MYO15A
2	Cytoskeleton remodeling_RalA regulation pathway ²³	10.47	MYO7A MYO6 MYO3A MYO15A

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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	vesicle	GO:0031982	9.58	MYO7A MYO6 MYO15A
2	actin cytoskeleton	GO:0015629	9.56	TRIOBP MYO7A MYO6 MYO15A
3	filamentous actin	GO:0031941	9.43	MYO6 MYO3A
4	stereocilium tip	GO:0032426	9.37	MYO3A CEACAM16
5	stereocilium bundle	GO:0032421	9.32	USH2A MYO15A
6	myosin complex	GO:0016459	9.26	MYO7A MYO6 MYO3A MYO15A
7	stereocilium base	GO:0120044	9.16	TRIOBP MYO7A
8	stereocilium	GO:0032420	8.92	MYO7A MYO3A MYO15A CDH23

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

(show all 12)

#	Name	GO ID	Score	Top Affiliating Genes
1	visual perception	GO:0007601	9.67	USH2A MYO7A MYO3A CDH23
2	actin filament organization	GO:0007015	9.62	TRIOBP MYO7A MYO6 MYO15A
3	inner ear receptor cell stereocilium organization	GO:0060122	9.51	MYO7A CDH23
4	actin filament-based movement	GO:0030048	9.49	MYO7A MYO6
5	auditory receptor cell stereocilium organization	GO:0060088	9.48	TRIOBP MYO7A
6	equilibrioception	GO:0050957	9.46	MYO7A CDH23
7	inner ear receptor cell differentiation	GO:0060113	9.43	USH2A MYO7A
8	vesicle transport along actin filament	GO:0030050	9.43	MYO7A MYO6 MYO15A
9	inner ear auditory receptor cell differentiation	GO:0042491	9.4	MYO7A MYO6
10	sensory perception of sound	GO:0007605	9.4	USH2A TRIOBP OTOF MYO7A MYO6 MYO3A
11	sensory perception of light stimulus	GO:0050953	9.33	USH2A MYO7A CDH23
12	inner ear morphogenesis	GO:0042472	9.26	MYO7A MYO6 MYO15A KCNQ4

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	9.77	TRIOBP MYO7A MYO6 MYO3A MYO15A
2	actin filament binding	GO:0051015	9.71	TRIOBP MYO7A MYO6 MYO15A
3	motor activity	GO:0003774	9.56	MYO7A MYO6 MYO3A MYO15A
4	calmodulin binding	GO:0005516	9.55	MYO7A MYO6 MYO3A MYO15A KCNQ4
5	ADP binding	GO:0043531	9.5	MYO7A MYO6 MYO3A
6	microfilament motor activity	GO:0000146	9.26	MYO7A MYO6 MYO3A MYO15A
7	actin-dependent ATPase activity	GO:0030898	8.92	MYO7A MYO6 MYO3A MYO15A

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 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-Mar-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 TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia