Non-Syndromic Genetic Deafness

MalaCards integrated aliases for Non-Syndromic Genetic Deafness:

Non-Syndromic Genetic Hearing Loss 58 Isolated Genetic Hearing Loss 58

Isolated Genetic Deafness 58

Characteristics:

Classifications:

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

(show top 50) (show all 88)

#	Related Disease	Score	Top Affiliating Genes
1	branchiootic syndrome 1	29.3	USH2A TECTA GJB2
2	cogan syndrome	10.3	GJB2 COCH
3	deafness, autosomal dominant 3a	10.3	GJB2 COCH
4	deafness, autosomal recessive 7	10.2	MYO15A GJB2
5	deafness, autosomal dominant 18	10.2	KCNQ4 COCH
6	deafness, autosomal dominant 16	10.2	KCNQ4 COCH
7	deafness, autosomal recessive 3	10.2	MYO15A GJB2
8	deafness, autosomal dominant 28	10.2	KCNQ4 COCH
9	deafness, autosomal dominant 41	10.2	KCNQ4 GJB2
10	deafness, autosomal dominant 15	10.2	KCNQ4 COCH
11	deafness, autosomal recessive 49	10.1	MYO15A GJB2
12	deafness, autosomal recessive 15	10.1	MYO15A CEACAM16
13	deafness, autosomal recessive 77	10.1	MYO3A GJB2
14	deafness, autosomal recessive 16	10.1	MYO15A GJB2
15	deafness, autosomal dominant 20	10.1	KCNQ4 COCH
16	deafness, autosomal dominant 4b	10.1	TECTA CEACAM16
17	deafness, autosomal recessive 53	10.1	TECTA CEACAM16
18	deafness, autosomal dominant 36	10.1	MYO15A GJB2
19	deafness, autosomal dominant 48	10.0	MYO3A MYO15A
20	deafness, autosomal dominant 25	10.0	KCNQ4 COCH CEACAM16
21	deafness, autosomal dominant 64	10.0	KCNQ4 GJB2 CEACAM16
22	deafness, autosomal recessive 8	10.0	MYO15A GJB2
23	deafness, autosomal dominant 2a	10.0	KCNQ4 GJB2 COCH
24	deafness, autosomal recessive 26	10.0	TECTA GJB2
25	deafness, autosomal dominant 9	10.0	KCNQ4 GJB2 COCH
26	peripheral vertigo	10.0	KCNQ4 GJB2 COCH
27	deafness, autosomal recessive 1a	10.0	KCNQ4 GJB2 COCH
28	deafness, autosomal recessive 1b	10.0	MYO15A GJB2 CEACAM16
29	deafness, autosomal recessive 30	10.0	MYO3A MYO15A
30	waardenburg syndrome, type 1	10.0	GJB2 COCH
31	inner ear disease	10.0	KCNQ4 GJB2 COCH
32	deafness, autosomal recessive 29	10.0	TECTA GJB2
33	otosclerosis	9.9	MYO15A GJB2 COCH
34	nonsyndromic deafness	9.9	MYO15A KCNQ4 GJB2
35	deafness, autosomal dominant 31	9.9	TECTA MYO3A
36	deafness, autosomal dominant 56	9.9	USH2A GJB2 COCH
37	usher syndrome, type iid	9.9	USH2A MYO15A
38	deafness, autosomal dominant 49	9.9	USH2A TECTA
39	deafness, autosomal recessive	9.9	MYO3A KARS1 GJB2
40	deafness, autosomal dominant 10	9.9	TECTA KCNQ4
41	usher syndrome, type iia	9.9	USH2A GJB2
42	deafness, x-linked 2	9.9	GJB2 COCH
43	deafness, autosomal recessive 93	9.9	TRIOBP GJB2
44	deafness, autosomal dominant 3b	9.9	TECTA GJB2 CEACAM16
45	ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus	9.9
46	usher syndrome, type if	9.9	USH2A MYO15A
47	deafness, autosomal dominant 12	9.9	TECTA COCH CEACAM16
48	deafness, autosomal recessive 39	9.9	TRIOBP GJB2
49	x-linked nonsyndromic deafness	9.9	TECTA GJB2
50	deafness, autosomal recessive 91	9.9	TECTA GJB2 COCH

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

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	CEACAM16	CEA Cell Adhesion Molecule 16, Tectorial Membrane Component	Protein Coding	400	Pathogenic 6
2	COCH	Cochlin	Protein Coding	400	Pathogenic 6
3	GJB2	Gap Junction Protein Beta 2	Protein Coding	400	Pathogenic 6
4	KARS1	Lysyl-TRNA Synthetase 1	Protein Coding	400	Pathogenic 6
5	KCNQ4	Potassium Voltage-Gated Channel Subfamily Q Member 4	Protein Coding	400	Pathogenic 6
6	MYO15A	Myosin XVA	Protein Coding	400	Pathogenic 6
7	MYO3A	Myosin IIIA	Protein Coding	400	Pathogenic 6
8	TECTA	Tectorin Alpha	Protein Coding	400	Pathogenic 6
9	TRIOBP	TRIO And F-Actin Binding Protein	Protein Coding	400	Pathogenic 6
10	USH2A	Usherin	Protein Coding	400	Pathogenic 6

ClinVar genetic disease variations for Non-Syndromic Genetic Deafness:

⁶ (show top 50) (show all 60) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	TECTA	NM_005422.2(TECTA):c.4085G>A (p.Trp1362Ter)	SNV	Pathogenic	498538	rs199638531	11:121016805-121016805	11:121146096-121146096
2	GJB2	NM_004004.6(GJB2):c.516G>C (p.Trp172Cys)	SNV	Pathogenic	590799	rs1302739538	13:20763205-20763205	13:20189066-20189066
3	MYO3A	NM_017433.5(MYO3A):c.2090T>G (p.Leu697Trp)	SNV	Pathogenic	617675	rs1564573788	10:26414513-26414513	10:26125584-26125584
4	GJB2	NM_004004.6(GJB2):c.101T>C (p.Met34Thr)	SNV	Pathogenic	17000	rs35887622	13:20763620-20763620	13:20189481-20189481
5	GJB2	NM_004004.6(GJB2):c.71G>A (p.Trp24Ter)	SNV	Pathogenic	17002	rs104894396	13:20763650-20763650	13:20189511-20189511
6	GJB2	NM_004004.6(GJB2):c.35del (p.Gly12fs)	deletion	Pathogenic	17004	rs80338939	13:20763686-20763686	13:20189547-20189547
7	GJB2	NM_004004.6(GJB2):c.167del (p.Leu56fs)	deletion	Pathogenic	17010	rs80338942	13:20763554-20763554	13:20189415-20189415
8	GJB2	NM_004004.6(GJB2):c.235del (p.Leu79fs)	deletion	Pathogenic	17014	rs80338943	13:20763486-20763486	13:20189347-20189347
9	GJB2	NM_004004.6(GJB2):c.109G>A (p.Val37Ile)	SNV	Pathogenic	17023	rs72474224	13:20763612-20763612	13:20189473-20189473
10	KCNQ4	NM_004700.4(KCNQ4):c.853G>A (p.Gly285Ser)	SNV	Pathogenic	6241	rs28937588	1:41285565-41285565	1:40819893-40819893
11	COCH	NM_004086.3(COCH):c.151C>T (p.Pro51Ser)	SNV	Pathogenic	6611	rs28938175	14:31346846-31346846	14:30877640-30877640
12	KARS1	NM_001130089.1(KARS1):c.517T>C (p.Tyr173His)	SNV	Pathogenic	60752	rs397514745	16:75670401-75670401	16:75636503-75636503
13	TRIOBP	NM_001039141.3(TRIOBP):c.6598C>T (p.Arg2200Ter)	SNV	Pathogenic	165613	rs727503528	22:38165057-38165057	22:37769050-37769050
14	MYO15A	NM_016239.4(MYO15A):c.5851del (p.Ser1951fs)	deletion	Pathogenic	179619	rs727504995	17:18046095-18046095	17:18142781-18142781
15	USH2A	NM_206933.3(USH2A):c.9685del (p.Glu3229fs)	deletion	Pathogenic	236049	rs878853233	1:215987132-215987132	1:215813790-215813790
16	CEACAM16	NM_001039213.4(CEACAM16):c.703C>T (p.Arg235Cys)	SNV	Pathogenic	236048	rs746164064	19:45208901-45208901	19:44705631-44705631
17	KCNQ4	NM_004700.4(KCNQ4):c.803_805CCT[1] (p.Ser269del)	short repeat	Likely pathogenic	208366	rs797044966	1:41285111-41285113	1:40819439-40819441
18	MYO6	NM_004999.4(MYO6):c.238C>T (p.Arg80Ter)	SNV	Likely pathogenic	178957	rs727504567	6:76538307-76538307	6:75828590-75828590
19	GJB2	NM_004004.6(GJB2):c.2T>C (p.Met1Thr)	SNV	Likely pathogenic	371781	rs371086981	13:20763719-20763719	13:20189580-20189580
20	MYO7A	NM_000260.4(MYO7A):c.2558G>A (p.Arg853His)	SNV	Likely pathogenic	43186	rs111033437	11:76890971-76890971	11:77179925-77179925
21	GJB2	NM_004004.6(GJB2):c.563A>G (p.Lys188Arg)	SNV	Likely pathogenic	429984	rs1131691709	13:20763158-20763158	13:20189019-20189019
22	GJB2	NM_004004.6(GJB2):c.34G>T (p.Gly12Cys)	SNV	Likely pathogenic	44740	rs104894408	13:20763687-20763687	13:20189548-20189548
23	CEACAM16	NM_001039213.4(CEACAM16):c.1122dup (p.Ala375fs)	duplication	Likely pathogenic	804341		19:45211310-45211311	19:44708038-44708039
24	KCNQ4	NM_004700.4(KCNQ4):c.825G>C (p.Trp275Cys)	SNV	Likely pathogenic	505302	rs956666801	1:41285135-41285135	1:40819463-40819463
25	OTOF	NM_194248.3(OTOF):c.5332G>T (p.Val1778Phe)	SNV	Conflicting interpretations of pathogenicity	48258	rs111033330	2:26684765-26684765	2:26461897-26461897
26	CDH23	NM_022124.6(CDH23):c.8083G>A (p.Asp2695Asn)	SNV	Uncertain significance	422345	rs369501114	10:73565943-73565943	10:71806186-71806186
27	GJB2	NM_004004.6(GJB2):c.107T>C (p.Leu36Pro)	SNV	Uncertain significance	158604	rs587783644	13:20763614-20763614	13:20189475-20189475
28	GJB2	NM_004004.6(GJB2):c.677T>G (p.Val226Gly)	SNV	Uncertain significance	447450	rs773846324	13:20763044-20763044	13:20188905-20188905
29	GJB2	NM_004004.6(GJB2):c.488T>C (p.Met163Thr)	SNV	Uncertain significance	449488	rs1273330603	13:20763233-20763233	13:20189094-20189094
30	COCH	NM_004086.3(COCH):c.355G>A (p.Ala119Thr)	SNV	Uncertain significance	6613	rs121908931	14:31348132-31348132	14:30878926-30878926
31	MYO7A	NM_000260.4(MYO7A):c.1817G>A (p.Arg606His)	SNV	Uncertain significance	517357	rs782311929	11:76883813-76883813	11:77172767-77172767
32	GJB2	NM_004004.6(GJB2):c.674C>T (p.Pro225Leu)	SNV	Uncertain significance	555720	rs1555341782	13:20763047-20763047	13:20188908-20188908
33	GJB2	NM_004004.6(GJB2):c.677T>A (p.Val226Asp)	SNV	Uncertain significance	585322	rs773846324	13:20763044-20763044	13:20188905-20188905
34	GJB2	NM_004004.6(GJB2):c.653G>A (p.Cys218Tyr)	SNV	Uncertain significance	585327	rs752812448	13:20763068-20763068	13:20188929-20188929
35	CLDN9	NM_020982.4(CLDN9):c.475G>A (p.Glu159Lys)	SNV	Uncertain significance	869102		16:3063838-3063838	16:3013837-3013837
36	GJB2	NM_004004.6(GJB2):c.339T>G (p.Ser113Arg)	SNV	Uncertain significance	21385	rs80338946	13:20763382-20763382	13:20189243-20189243
37	MYO7A	NM_000260.4(MYO7A):c.1007G>A (p.Arg336His)	SNV	Uncertain significance	43134	rs45629132	11:76870496-76870496	11:77159450-77159450
38	GJB2	NM_004004.6(GJB2):c.-22-2A>C	SNV	Uncertain significance	375406	rs201895089	13:20763744-20763744	13:20189605-20189605
39	CDH23	NM_022124.6(CDH23):c.6866A>G (p.Asn2289Ser)	SNV	Uncertain significance	228500	rs876657756	10:73558147-73558147	10:71798390-71798390
40	TECTA	NM_005422.2(TECTA):c.487-7C>G	SNV	Likely benign	229304	rs368627411	11:120983774-120983774	11:121113065-121113065
41	TECTA	NM_005422.2(TECTA):c.5836T>C (p.Tyr1946His)	SNV	Likely benign	165370	rs144343770	11:121039471-121039471	11:121168762-121168762
42	TECTA	NM_005422.2(TECTA):c.3097C>T (p.Arg1033Trp)	SNV	Likely benign	178538	rs142486386	11:121008285-121008285	11:121137576-121137576
43	TECTA	NM_005422.2(TECTA):c.3492C>T (p.Thr1164=)	SNV	Likely benign	178539	rs144012985	11:121008680-121008680	11:121137971-121137971
44	MYO6	NM_004999.4(MYO6):c.2836C>T (p.Arg946Cys)	SNV	Likely benign	164639	rs141845119	6:76599951-76599951	6:75890234-75890234
45	TECTA	NM_005422.2(TECTA):c.701A>G (p.Gln234Arg)	SNV	Likely benign	178532	rs144682235	11:120984338-120984338	11:121113629-121113629
46	KCNQ4	NM_004700.4(KCNQ4):c.720C>G (p.Thr240=)	SNV	Likely benign	227469	rs752131356	1:41285030-41285030	1:40819358-40819358
47	TECTA	NM_005422.2(TECTA):c.4004G>A (p.Gly1335Glu)	SNV	Likely benign	287165	rs148619105	11:121016724-121016724	11:121146015-121146015
48	TECTA	NM_005422.2(TECTA):c.2061C>G (p.Asn687Lys)	SNV	Likely benign	45317	rs139165033	11:120998747-120998747	11:121128038-121128038
49	CDH23	NM_022124.6(CDH23):c.2263C>T (p.His755Tyr)	SNV	Benign	45891	rs181255269	10:73453990-73453990	10:71694233-71694233
50	CDH23	NM_022124.6(CDH23):c.429+4G>A	SNV	Benign	45941	rs397517328	10:73270973-73270973	10:71511216-71511216