MCID: ATS251
MIFTS: 38

Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna

Categories: Ear diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Autosomal Dominant Non-Syndromic Sensorineural Deafness Type...

MalaCards integrated aliases for Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna:

Name: Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna 58 29 6
Autosomal Dominant Non-Syndromic Sensorineural Hearing Loss Type Dfna 58
Autosomal Dominant Non-Syndromic Neurosensory Hearing Loss Type Dfna 58
Autosomal Dominant Isolated Sensorineural Hearing Loss Type Dfna 58
Autosomal Dominant Non-Syndromic Neurosensory Deafness Type Dfna 58
Autosomal Dominant Isolated Neurosensory Hearing Loss Type Dfna 58
Autosomal Dominant Isolated Sensorineural Deafness Type Dfna 58
Autosomal Dominant Isolated Neurosensory Deafness Type Dfna 58

Characteristics:

Orphanet epidemiological data:

58
autosomal dominant non-syndromic sensorineural deafness type dfna
Inheritance: Autosomal dominant; Age of onset: Childhood;

Classifications:

Orphanet: 58  
Rare otorhinolaryngological diseases


External Ids:

ICD10 via Orphanet 33 H90.3
Orphanet 58 ORPHA90635

Summaries for Autosomal Dominant Non-Syndromic Sensorineural Deafness Type...

MalaCards based summary : Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna, also known as autosomal dominant non-syndromic sensorineural hearing loss type dfna, is related to nonsyndromic deafness and deafness, autosomal recessive. An important gene associated with Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna is ACTG1 (Actin Gamma 1). Related phenotypes are behavior/neurological and hearing/vestibular/ear

Related Diseases for Autosomal Dominant Non-Syndromic Sensorineural Deafness Type...

Diseases related to Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 93)
# Related Disease Score Top Affiliating Genes
1 nonsyndromic deafness 10.6 KCNQ4 GJB2 DIABLO COL11A2
2 deafness, autosomal recessive 10.5 TMC1 TECTA MYO7A GJB2
3 labyrinthitis 10.5 MYO7A GJB2 COCH
4 deafness, autosomal dominant 43 10.5 POU4F3 COCH CCDC50
5 deafness, autosomal dominant 24 10.5 POU4F3 COCH CCDC50
6 y-linked monogenic disease 10.5 TMC1 KCNQ4 GSDME
7 deafness, autosomal dominant 54 10.5 POU4F3 MYH14
8 branchiootic syndrome 10.5 SIX1 MYO7A KCNQ4 EYA4
9 vestibular disease 10.5 MYO7A KCNQ4 GJB2 COCH
10 deafness, autosomal dominant 16 10.5 POU4F3 KCNQ4 COCH CCDC50
11 deafness, autosomal recessive 2 10.5 TMC1 TECTA MYO7A GJB2
12 peripheral vertigo 10.5 MYO7A KCNQ4 GJB2 COCH
13 deafness, autosomal dominant 18 10.5 POU4F3 KCNQ4 GSDME CCDC50
14 deafness, autosomal dominant 21 10.5 TECTA MYH14 GSDME EYA4 COL11A2
15 deafness, autosomal dominant 41 10.5 POU4F3 KCNQ4 GSDME GJB2
16 autosomal recessive nonsyndromic deafness 3 10.5 TMC1 MYO7A GJB2
17 meniere disease 10.5 MYO7A KCNQ4 GJB2 COCH
18 y-linked deafness 10.5 TMC1 GSDME
19 deafness, autosomal recessive 91 10.5 GSDME GJB2 CRYM COCH
20 deafness, autosomal dominant 3a 10.5 GSDME GJB2 CRYM COCH
21 deafness, autosomal dominant 17 10.5 MYO7A MYH14 KCNQ4
22 deafness, autosomal recessive 7 10.5 TMC1 MYO7A GJB2
23 deafness, autosomal dominant 28 10.5 KCNQ4 GSDME EYA4 CRYM COCH
24 deafness, autosomal dominant 36 10.5 TMC1 KCNQ4 GSDME GJB2
25 deafness, autosomal recessive 53 10.5 TECTA COL11A2 CEACAM16
26 deafness, autosomal dominant 11 10.5 POU4F3 MYO7A GSDME GJB2 COL11A2
27 usher syndrome, type ic 10.5 TMC1 MYO7A GJB2
28 deafness, autosomal recessive 9 10.5 TMC1 TECTA MYO7A GJB2
29 deafness, autosomal dominant 2a 10.5 POU4F3 KCNQ4 GJB2 COCH CCDC50
30 deafness, autosomal dominant 20 10.5 TMC1 POU4F3 KCNQ4 GSDME ACTG1
31 deafness, autosomal recessive 8 10.5 TMC1 GJB2
32 deafness, autosomal recessive 79 10.5 TMC1 GJB2 CEACAM16
33 deafness, autosomal recessive 84b 10.5 COL11A2 CEACAM16
34 deafness, autosomal recessive 23 10.5 TMC1 MYO7A GJB2
35 auditory neuropathy, autosomal dominant, 1 10.5 KCNQ4 GJB2 DIAPH3
36 deafness, autosomal dominant 48 10.5 MYO7A MYH14
37 autosomal recessive nonsyndromic deafness 10.5 TMC1 TECTA MYO7A GJB2
38 branchiootorenal syndrome 10.5 SIX1 GJB2 EYA4
39 deafness, autosomal recessive 3 10.5 MYO7A GJB2
40 otospondylomegaepiphyseal dysplasia, autosomal dominant 10.5 TECTA COL11A2 CEACAM16
41 inner ear disease 10.5 MYO7A KCNQ4 GJB2 COCH
42 deafness, autosomal dominant 64 10.5 MYH14 KCNQ4 GJB2 DIABLO CEACAM16
43 usher syndrome, type id 10.5 TMC1 TECTA MYO7A GJB2
44 deafness, autosomal recessive 21 10.5 TMC1 TECTA GJB2 COL11A2 CEACAM16
45 deafness, autosomal dominant 13 10.5 TECTA KCNQ4 GSDME EYA4 COL11A2 CCDC50
46 deafness, autosomal dominant 25 10.5 POU4F3 MYO7A KCNQ4 CEACAM16 CCDC50
47 deafness, autosomal dominant 4b 10.5 TECTA CEACAM16
48 hereditary hearing loss and deafness 10.5 GSDME GJB2 EYA4 COL11A2 COCH CCDC50
49 pendred syndrome 10.5 TMC1 MYO7A GJB2
50 developmental and epileptic encephalopathy 16 10.5 TBC1D24 GJB2

Graphical network of the top 20 diseases related to Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna:



Diseases related to Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna

Symptoms & Phenotypes for Autosomal Dominant Non-Syndromic Sensorineural Deafness Type...

MGI Mouse Phenotypes related to Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.93 ACTG1 CEACAM16 COL11A2 CRYM DIABLO EYA4
2 hearing/vestibular/ear MP:0005377 9.83 ACTG1 CEACAM16 COCH COL11A2 CRYM EYA4
3 nervous system MP:0003631 9.4 ACTG1 DIAPH3 GJB2 GSDME KCNQ4 MYH14

Drugs & Therapeutics for Autosomal Dominant Non-Syndromic Sensorineural Deafness Type...

Search Clinical Trials , NIH Clinical Center for Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna

Genetic Tests for Autosomal Dominant Non-Syndromic Sensorineural Deafness Type...

Genetic tests related to Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna:

# Genetic test Affiliating Genes
1 Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna 29

Anatomical Context for Autosomal Dominant Non-Syndromic Sensorineural Deafness Type...

Publications for Autosomal Dominant Non-Syndromic Sensorineural Deafness Type...

Articles related to Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna:

(show top 50) (show all 267)
# Title Authors PMID Year
1
TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease model. 6
31257402 2019
2
Infantile epilepsy with multifocal myoclonus caused by TBC1D24 mutations. 6
31112829 2019
3
Exome sequencing reveals novel variants and unique allelic spectrum for hearing impairment in Filipino cochlear implantees. 6
30828794 2019
4
Gene mutational analysis in a cohort of Chinese children with unexplained epilepsy: Identification of a new KCND3 phenotype and novel genes causing Dravet syndrome. 6
30776697 2019
5
Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss. 6
30303587 2019
6
Whole exome sequencing identified a second pathogenic variant in HOMER2 for autosomal dominant non-syndromic deafness. 6
30047143 2018
7
Defects in the Alternative Splicing-Dependent Regulation of REST Cause Deafness. 6
29961578 2018
8
Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction. 6
29754270 2018
9
A Missense Mutation in POU4F3 Causes Midfrequency Hearing Loss in a Chinese ADNSHL Family. 6
29850532 2018
10
Novel TBC1D24 Mutations in a Case of Nonconvulsive Status Epilepticus. 6
30108545 2018
11
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. 6
29100083 2017
12
Progressive macrothrombocytopenia and hearing loss in a large family with DIAPH1 related disease. 6
28815995 2017
13
Extension of the clinical and molecular phenotype of DIAPH1-associated autosomal dominant hearing loss (DFNA1). 6
27808407 2017
14
Alternating Hemiplegia and Epilepsia Partialis Continua: A new phenotype for a novel compound TBC1D24 mutation. 6
28292732 2017
15
Homozygous TBC1D24 Mutation in a Case of Epilepsia Partialis Continua. 6
29416524 2017
16
TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus. 6
28428906 2017
17
[A gene study of a family with hidrotic ectodermal dysplasia]. 6
27817781 2016
18
Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome. 6
27240540 2016
19
Electroclinical phenotypes and outcomes in TBC1D24-related epilepsy. 6
27502353 2016
20
A known mutation in GJB6 in a large Chinese family with hidrotic ectodermal dysplasia. 6
27137747 2016
21
TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features. 6
27281533 2016
22
A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss. 6
26912466 2016
23
Immune system disturbances in Clouston syndrome. 6
26551294 2016
24
Nonmuscle Myosin Heavy Chain IIA Mutation Predicts Severity and Progression of Sensorineural Hearing Loss in Patients With MYH9-Related Disease. 6
26226608 2016
25
Whole Exome Sequencing Reveals Homozygous Mutations in RAI1, OTOF, and SLC26A4 Genes Associated with Nonsyndromic Hearing Loss in Altaian Families (South Siberia). 6
27082237 2016
26
Targeted Droplet-Digital PCR as a Tool for Novel Deletion Discovery at the DFNB1 Locus. 6
26444186 2016
27
Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2. 6
26522471 2015
28
A novel frameshift mutation in KCNQ4 in a family with autosomal recessive non-syndromic hearing loss. 6
26036578 2015
29
A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment. 6
26197441 2015
30
R705H mutation of MYH9 is associated with MYH9-related disease and not only with non-syndromic deafness DFNA17. 6
24890873 2015
31
Detailed hearing and vestibular profiles in the patients with COCH mutations. 6
25780252 2015
32
Keratitis-ichthyosis-deafness syndrome-associated Cx26 mutants produce nonfunctional gap junctions but hyperactive hemichannels when co-expressed with wild type Cx43. 6
25625422 2015
33
Bioinformatic Analysis of GJB2 Gene Missense Mutations. 6
25388846 2015
34
Early-onset epileptic encephalopathy with hearing loss in two siblings with TBC1D24 recessive mutations. 6
25557349 2015
35
Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability. 6
25769375 2015
36
HOMER2, a stereociliary scaffolding protein, is essential for normal hearing in humans and mice. 6
25816005 2015
37
Identification of OSBPL2 as a novel candidate gene for progressive nonsyndromic hearing loss by whole-exome sequencing. 6
25077649 2015
38
Exome sequencing identifies a novel CEACAM16 mutation associated with autosomal dominant nonsyndromic hearing loss DFNA4B in a Chinese family. 6
25589040 2015
39
OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67). 6
25759012 2015
40
Whole Exome Sequencing Identified MCM2 as a Novel Causative Gene for Autosomal Dominant Nonsyndromic Deafness in a Chinese Family. 6
26196677 2015
41
Mutation Spectrum of Common Deafness-Causing Genes in Patients with Non-Syndromic Deafness in the Xiamen Area, China. 6
26252218 2015
42
GJB2 Mutation Spectrum and Genotype-Phenotype Correlation in 1067 Han Chinese Subjects with Non-Syndromic Hearing Loss. 6
26043044 2015
43
Whole exome sequencing identifies mutations in Usher syndrome genes in profoundly deaf Tunisian patients. 6
25798947 2015
44
Recessive TBC1D24 Mutations Are Frequent in Moroccan Non-Syndromic Hearing Loss Pedigrees. 6
26371875 2015
45
Evaluation of the contribution of the EYA4 and GRHL2 genes in Korean patients with autosomal dominant non-syndromic hearing loss. 6
25781927 2015
46
Long-Term Cochlear Implant Outcomes in Children with GJB2 and SLC26A4 Mutations. 6
26397989 2015
47
New and rare GJB2 alleles in patients with nonsyndromic sensorineural hearing impairment: a genotype/auditory phenotype correlation. 6
25401782 2014
48
GJB2 and GJB6 mutations are an infrequent cause of autosomal-recessive nonsyndromic hearing loss in residents of Mexico. 6
25288386 2014
49
Targeted next generation sequencing for molecular diagnosis of Usher syndrome. 6
25404053 2014
50
c.G2114A MYH9 mutation (DFNA17) causes non-syndromic autosomal dominant hearing loss in a Brazilian family. 6
25505834 2014

Variations for Autosomal Dominant Non-Syndromic Sensorineural Deafness Type...

ClinVar genetic disease variations for Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna:

6 (show top 50) (show all 2716)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MIR96 NR_029512.1(MIR96):n.14C>A SNV Pathogenic 866 rs587776523 GRCh37: 7:129414596-129414596
GRCh38: 7:129774756-129774756
2 CCDC50 CCDC50, 8-BP DUP, NT1394 Duplication Pathogenic 1036 GRCh37:
GRCh38:
3 GSDME GSDME, INS/DEL, EX8DEL Deletion Pathogenic 2090 GRCh37:
GRCh38:
4 GSDME GSMDE, 3-BP DEL, IVS7, -17CTT Deletion Pathogenic 2091 GRCh37:
GRCh38:
5 TMC1 NM_138691.2(TMC1):c.1714G>C (p.Asp572His) SNV Pathogenic 4105 rs121908072 GRCh37: 9:75431077-75431077
GRCh38: 9:72816161-72816161
6 EYA4 EYA4, 2-BP INS, 1468AA Insertion Pathogenic 6236 GRCh37:
GRCh38:
7 EYA4 EYA4, 2200C-T SNV Pathogenic 6237 GRCh37:
GRCh38:
8 EYA4 EYA4, 2-BP INS, 1490AA Insertion Pathogenic 6239 GRCh37:
GRCh38:
9 EYA4 EYA4, IVS14, 1282-12T-A SNV Pathogenic 6240 GRCh37:
GRCh38:
10 COCH , LOC100506071 NM_004086.3(COCH):c.197T>G (p.Val66Gly) SNV Pathogenic 6608 rs121908927 GRCh37: 14:31346892-31346892
GRCh38: 14:30877686-30877686
11 COCH , LOC100506071 NM_004086.3(COCH):c.263G>A (p.Gly88Glu) SNV Pathogenic 6609 rs121908928 GRCh37: 14:31348040-31348040
GRCh38: 14:30878834-30878834
12 COCH , LOC100506071 NM_004086.3(COCH):c.349T>C (p.Trp117Arg) SNV Pathogenic 6610 rs121908929 GRCh37: 14:31348126-31348126
GRCh38: 14:30878920-30878920
13 COCH , LOC100506071 NM_004086.3(COCH):c.326T>A (p.Ile109Asn) SNV Pathogenic 6612 rs121908930 GRCh37: 14:31348103-31348103
GRCh38: 14:30878897-30878897
14 COCH , LOC100506071 NM_004086.3(COCH):c.1625G>A (p.Cys542Tyr) SNV Pathogenic 6615 rs121908932 GRCh37: 14:31358969-31358969
GRCh38: 14:30889763-30889763
15 COCH , LOC100506071 NM_004086.3(COCH):c.1535T>C (p.Met512Thr) SNV Pathogenic 6616 rs121908934 GRCh37: 14:31358879-31358879
GRCh38: 14:30889673-30889673
16 CRYM NM_001888.5(CRYM):c.941A>C (p.Lys314Thr) SNV Pathogenic 16935 rs104894512 GRCh37: 16:21270106-21270106
GRCh38: 16:21258785-21258785
17 GRHL2 NM_024915.4(GRHL2):c.1258-1G>A SNV Pathogenic 92126 rs398123006 GRCh37: 8:102643864-102643864
GRCh38: 8:101631636-101631636
18 TNC NM_002160.4(TNC):c.5317G>A (p.Val1773Met) SNV Pathogenic 97008 rs137933052 GRCh37: 9:117803295-117803295
GRCh38: 9:115041016-115041016
19 TNC NM_002160.4(TNC):c.5386A>T (p.Thr1796Ser) SNV Pathogenic 97009 rs431905513 GRCh37: 9:117803226-117803226
GRCh38: 9:115040947-115040947
20 P2RX2 NM_170682.4(P2RX2):c.178G>T (p.Val60Leu) SNV Pathogenic 155762 rs587777692 GRCh37: 12:133196029-133196029
GRCh38: 12:132619443-132619443
21 P2RX2 NM_170682.4(P2RX2):c.1057G>C (p.Gly353Arg) SNV Pathogenic 155763 rs202138002 GRCh37: 12:133198121-133198121
GRCh38: 12:132621535-132621535
22 TMC1 NM_138691.2(TMC1):c.1253T>A (p.Met418Lys) SNV Pathogenic 183668 rs786201027 GRCh37: 9:75406830-75406830
GRCh38: 9:72791914-72791914
23 SIX1 NM_005982.4(SIX1):c.373G>A (p.Glu125Lys) SNV Pathogenic 208361 rs797044960 GRCh37: 14:61115535-61115535
GRCh38: 14:60648817-60648817
24 COCH , LOC100506071 NM_004086.3(COCH):c.1159C>T (p.Leu387Phe) SNV Pathogenic 236036 rs878853226 GRCh37: 14:31355200-31355200
GRCh38: 14:30885994-30885994
25 STRC 15q15.3 deletion Deletion Pathogenic 236065 GRCh37:
GRCh38:
26 TJP2 NC_000009.11:g.71705804_71974823invdup Duplication Pathogenic 236063 GRCh37:
GRCh38:
27 TBC1D24 NM_001199107.2(TBC1D24):c.346A>T (p.Lys116Ter) SNV Pathogenic 587507 rs1567411469 GRCh37: 16:2546495-2546495
GRCh38: 16:2496494-2496494
28 TBCEL-TECTA , TECTA NM_005422.2(TECTA):c.5609A>G (p.Tyr1870Cys) SNV Pathogenic 7014 rs121909058 GRCh37: 11:121038785-121038785
GRCh38: 11:121168076-121168076
29 TBCEL-TECTA , TECTA NM_005422.2(TECTA):c.3169T>A (p.Cys1057Ser) SNV Pathogenic 7016 rs121909059 GRCh37: 11:121008357-121008357
GRCh38: 11:121137648-121137648
30 TBCEL-TECTA , TECTA NM_005422.2(TECTA):c.4856G>C (p.Cys1619Ser) SNV Pathogenic 7017 rs121909060 GRCh37: 11:121031010-121031010
GRCh38: 11:121160301-121160301
31 TBCEL-TECTA , TECTA NM_005422.2(TECTA):c.5509T>G (p.Cys1837Gly) SNV Pathogenic 7020 rs121909061 GRCh37: 11:121037412-121037412
GRCh38: 11:121166703-121166703
32 TBCEL-TECTA , TECTA NM_005422.2(TECTA):c.5509T>C (p.Cys1837Arg) SNV Pathogenic 7023 rs121909061 GRCh37: 11:121037412-121037412
GRCh38: 11:121166703-121166703
33 MYO7A MYO7A, 9-BP DEL, EX22 Deletion Pathogenic 11857 GRCh37:
GRCh38:
34 MIR96 NR_029512.1(MIR96):n.13G>A SNV Pathogenic 865 rs587776522 GRCh37: 7:129414597-129414597
GRCh38: 7:129774757-129774757
35 TBCEL-TECTA , TECTA NM_005422.2(TECTA):c.6017A>G (p.Asp2006Gly) SNV Pathogenic 236033 rs878853224 GRCh37: 11:121058558-121058558
GRCh38: 11:121187849-121187849
36 TBCEL-TECTA , TECTA NM_005422.2(TECTA):c.2887G>A (p.Ala963Thr) SNV Pathogenic 236059 rs753896285 GRCh37: 11:121000866-121000866
GRCh38: 11:121130157-121130157
37 TJP2 9q21.11 duplication Duplication Pathogenic 813832 GRCh37:
GRCh38:
38 ACTG1 NM_001614.5(ACTG1):c.266C>T (p.Thr89Ile) SNV Pathogenic 18315 rs28999111 GRCh37: 17:79479026-79479026
GRCh38: 17:81512000-81512000
39 ACTG1 NM_001614.5(ACTG1):c.994C>G (p.Pro332Ala) SNV Pathogenic 18317 rs104894545 GRCh37: 17:79477850-79477850
GRCh38: 17:81510824-81510824
40 ACTG1 NM_001614.5(ACTG1):c.833C>T (p.Thr278Ile) SNV Pathogenic 18319 rs28999112 GRCh37: 17:79478104-79478104
GRCh38: 17:81511078-81511078
41 ACTG1 NM_001614.5(ACTG1):c.1109T>C (p.Val370Ala) SNV Pathogenic 18320 rs104894547 GRCh37: 17:79477735-79477735
GRCh38: 17:81510709-81510709
42 ACTG1 NM_001614.5(ACTG1):c.354G>C (p.Lys118Asn) SNV Pathogenic 18321 rs267606630 GRCh37: 17:79478938-79478938
GRCh38: 17:81511912-81511912
43 TBCEL-TECTA , TECTA NM_005422.2(TECTA):c.5331G>A (p.Leu1777=) SNV Pathogenic 7024 rs1591462832 GRCh37: 11:121036040-121036040
GRCh38: 11:121165331-121165331
44 LMX1A , LMX1A-AS2 NM_177398.4(LMX1A):c.721G>C (p.Val241Leu) SNV Pathogenic 812515 rs1571147567 GRCh37: 1:165179962-165179962
GRCh38: 1:165210725-165210725
45 LMX1A NM_177398.4(LMX1A):c.290G>C (p.Cys97Ser) SNV Pathogenic 812516 rs1571177726 GRCh37: 1:165218851-165218851
GRCh38: 1:165249614-165249614
46 COCH , LOC100506071 NM_004086.3(COCH):c.1115T>C (p.Ile372Thr) SNV Pathogenic 813819 rs1594385065 GRCh37: 14:31355156-31355156
GRCh38: 14:30885950-30885950
47 ATP2B2 NM_001001331.4(ATP2B2):c.1033C>T (p.Gln345Ter) SNV Pathogenic 917514 GRCh37: 3:10420936-10420936
GRCh38: 3:10379252-10379252
48 GRHL2 NM_024915.4(GRHL2):c.1609dup (p.Arg537fs) Duplication Pathogenic 2195 rs398122997 GRCh37: 8:102656449-102656450
GRCh38: 8:101644221-101644222
49 CRYM NM_001888.5(CRYM):c.945A>T (p.Ter315Tyr) SNV Pathogenic 16934 rs104894509 GRCh37: 16:21270102-21270102
GRCh38: 16:21258781-21258781
50 MYH14 NM_001145809.2(MYH14):c.20C>A (p.Ser7Ter) SNV Pathogenic 2196 rs119103279 GRCh37: 19:50713642-50713642
GRCh38: 19:50210385-50210385

Expression for Autosomal Dominant Non-Syndromic Sensorineural Deafness Type...

Search GEO for disease gene expression data for Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna.

Pathways for Autosomal Dominant Non-Syndromic Sensorineural Deafness Type...

GO Terms for Autosomal Dominant Non-Syndromic Sensorineural Deafness Type...

Cellular components related to Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 stereocilium tip GO:0032426 8.62 TMC1 CEACAM16

Biological processes related to Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 inner ear morphogenesis GO:0042472 9.56 SIX1 POU4F3 MYO7A KCNQ4
2 sensory perception of sound GO:0007605 9.5 TMC1 TECTA SIX1 POU4F3 MYO7A MYH14
3 actin filament-based movement GO:0030048 9.37 MYO7A MYH14
4 inner ear development GO:0048839 9.35 SIX1 POU4F3 MYO7A GJB2 EYA4
5 inner ear receptor cell differentiation GO:0060113 9.33 POU4F3 MYO7A GSDME
6 inner ear auditory receptor cell differentiation GO:0042491 9.32 POU4F3 MYO7A

Molecular functions related to Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin-dependent ATPase activity GO:0030898 8.62 MYO7A MYH14

Sources for Autosomal Dominant Non-Syndromic Sensorineural Deafness Type...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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