DFNA5
MCID: DFN159
MIFTS: 31

Deafness, Autosomal Dominant 5 (DFNA5)

Categories: Cardiovascular diseases, Ear diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Deafness, Autosomal Dominant 5

MalaCards integrated aliases for Deafness, Autosomal Dominant 5:

Name: Deafness, Autosomal Dominant 5 57 29 13 6 70
Dfna5 57 12 72
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 5 72
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 5 72
Autosomal Dominant Nonsyndromic Deafness 5 12
Deafness, Autosomal Dominant, Type 5 39
Deafness, Autosomal Dominant, 5 72
Autosomal Dominant Deafness 5 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
variable age of onset, ranging from 11 to 50 years


HPO:

31
deafness, autosomal dominant 5:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110575
OMIM® 57 600994
OMIM Phenotypic Series 57 PS124900
MeSH 44 D006319
ICD10 32 H90.3
MedGen 41 C1832932
SNOMED-CT via HPO 68 263681008
UMLS 70 C1832932

Summaries for Deafness, Autosomal Dominant 5

UniProtKB/Swiss-Prot : 72 Deafness, autosomal dominant, 5: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.

MalaCards based summary : Deafness, Autosomal Dominant 5, also known as dfna5, is related to ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus and branchiootic syndrome 1. An important gene associated with Deafness, Autosomal Dominant 5 is GSDME (Gasdermin E). Affiliated tissues include breast, lymph node and skin, and related phenotype is progressive sensorineural hearing impairment.

Disease Ontology : 12 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the first decade of life and high frequency progressive hearing loss, and has material basis in heterozygous mutation in the gasdermin E (GSDME) gene on chromosome 7p15.

More information from OMIM: 600994 PS124900

Related Diseases for Deafness, Autosomal Dominant 5

Diseases in the Rare Deafness family:

Deafness, Autosomal Recessive 1a Deafness, Autosomal Recessive 2
Deafness, Autosomal Dominant 2a Deafness, Autosomal Recessive 3
Deafness, Autosomal Dominant 4a Deafness, Autosomal Recessive 5
Deafness, Autosomal Dominant 6 Deafness, Autosomal Recessive 6
Deafness, Autosomal Recessive 7 Deafness, Autosomal Dominant 5
Deafness, Autosomal Recessive 9 Deafness, Autosomal Recessive 8
Deafness, Autosomal Dominant 10 Deafness, Autosomal Dominant 11
Deafness, Autosomal Dominant 9 Deafness, Autosomal Recessive 12
Deafness, Autosomal Dominant 7 Deafness, Autosomal Dominant 12
Deafness, Autosomal Dominant 3a Deafness, Autosomal Dominant 13
Deafness, Autosomal Recessive 15 Deafness, Autosomal Recessive 18a
Deafness, Autosomal Dominant 15 Deafness, Autosomal Recessive 17
Deafness, Autosomal Recessive 13 Deafness, Autosomal Dominant 17
Deafness, Autosomal Recessive 21 Deafness, Autosomal Recessive 14
Deafness, Autosomal Recessive 16 Deafness, Autosomal Dominant 16
Deafness, Autosomal Recessive 20 Deafness, Autosomal Dominant 20
Deafness, Autosomal Dominant 23 Deafness, Autosomal Recessive 26
Deafness, Autosomal Dominant 25 Deafness, Autosomal Recessive 27
Deafness, Autosomal Dominant 18 Deafness, Autosomal Dominant 24
Deafness, Autosomal Dominant 22 Deafness, Autosomal Dominant 30
Deafness, Autosomal Dominant 36 Deafness, Autosomal Dominant 21
Deafness, Autosomal Recessive 22 Deafness, Autosomal Recessive 31
Deafness, Autosomal Recessive 30 Deafness, Autosomal Recessive
Deafness, Autosomal Recessive 33 Deafness, Autosomal Dominant 44
Deafness, Autosomal Dominant 52 Deafness, Autosomal Recessive 37
Deafness, Autosomal Dominant 48 Deafness, Autosomal Recessive 38
Deafness, Autosomal Dominant 41 Deafness, Autosomal Recessive 40
Deafness, Autosomal Recessive 39 Deafness, Autosomal Dominant 49
Deafness, Autosomal Dominant 43 Deafness, Autosomal Recessive 35
Deafness, Autosomal Dominant 28 Deafness, Autosomal Dominant 31
Deafness, Autosomal Dominant 47 Deafness, Autosomal Recessive 48
Deafness, Autosomal Recessive 23 Deafness, Autosomal Recessive 42
Deafness, Autosomal Recessive 46 Deafness, Autosomal Recessive 53
Deafness, Autosomal Recessive 28 Deafness, Autosomal Recessive 51
Deafness, Autosomal Recessive 47 Deafness, Autosomal Recessive 55
Deafness, Autosomal Dominant 53 Deafness, Autosomal Recessive 62
Deafness, Autosomal Recessive 49 Deafness, Autosomal Recessive 44
Deafness, Autosomal Recessive 66 Deafness, Autosomal Recessive 59
Deafness, Autosomal Recessive 65 Deafness, Autosomal Recessive 67
Deafness, Autosomal Recessive 68 Deafness, Autosomal Recessive 24
Deafness, Autosomal Recessive 63 Deafness, Autosomal Dominant 27
Deafness, Autosomal Recessive 45 Deafness, Autosomal Dominant 59
Deafness, Autosomal Dominant 3b Deafness, Autosomal Dominant 2b
Deafness, Autosomal Recessive 1b Deafness, Autosomal Recessive 71
Deafness, Autosomal Dominant 50 Deafness, Autosomal Recessive 77
Deafness, Autosomal Recessive 25 Deafness, Autosomal Recessive 79
Deafness, Autosomal Recessive 84a Deafness, Autosomal Recessive 85
Deafness, Autosomal Recessive 91 Deafness, Autosomal Dominant 51
Deafness, Autosomal Recessive 83 Deafness, Autosomal Recessive 74
Deafness, Autosomal Recessive 61 Deafness, Autosomal Recessive 89
Deafness, Autosomal Recessive 29 Deafness, Autosomal Dominant 64
Deafness, Autosomal Dominant 33 Deafness, Autosomal Recessive 96
Deafness, Autosomal Dominant 4b Deafness, Autosomal Recessive 86
Deafness, Autosomal Recessive 98 Deafness, Autosomal Recessive 93
Deafness, Autosomal Recessive 70 Deafness, Autosomal Recessive 84b
Deafness, Autosomal Recessive 18b Deafness, Autosomal Recessive 88
Deafness, Autosomal Recessive 76 Deafness, Autosomal Dominant 56
Deafness, Autosomal Dominant 54 Deafness, Autosomal Dominant 58
Deafness, Autosomal Recessive 101 Deafness, Autosomal Recessive 102
Deafness, Autosomal Recessive 103 Deafness, Autosomal Dominant 65
Deafness, Autosomal Dominant 67 Deafness, Autosomal Dominant 40
Deafness, Autosomal Recessive 104 Deafness, Autosomal Dominant 69
Deafness, Autosomal Recessive 97 Deafness, Autosomal Dominant 68
Deafness, Autosomal Dominant 70 Deafness, Autosomal Dominant 66
Deafness, Autosomal Dominant 71 Deafness, Autosomal Dominant 72
Deafness, Autosomal Recessive 106 Deafness, Autosomal Recessive 107
Deafness, Autosomal Recessive 108 Deafness, Autosomal Dominant 73
Deafness, Autosomal Recessive 57 Deafness, Autosomal Recessive 109
Deafness, Autosomal Recessive 110 Deafness, Autosomal Dominant 74
Deafness, Autosomal Recessive 111 Deafness, Autosomal Recessive 112
Deafness, Autosomal Recessive 113 Deafness, Autosomal Recessive 100
Deafness, Autosomal Recessive 94 Deafness, Autosomal Recessive 114
Deafness, Autosomal Recessive 115 Deafness, Autosomal Recessive 99
Deafness, Autosomal Dominant 37 Deafness, Autosomal Dominant 75
Deafness, Autosomal Dominant 76 Deafness, Autosomal Dominant 77
Deafness, Autosomal Dominant 78 Deafness, Autosomal Dominant 79
Deafness, Autosomal Recessive 116 Deafness, Autosomal Recessive 117
Autosomal Dominant Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness
Autosomal Recessive Nonsyndromic Deafness 106 Autosomal Recessive Nonsyndromic Deafness 107
Autosomal Recessive Nonsyndromic Deafness 108 Autosomal Dominant Nonsyndromic Deafness 71
Autosomal Dominant Nonsyndromic Deafness 72 Autosomal Dominant Nonsyndromic Deafness 73
Autosomal Dominant Nonsyndromic Deafness 34 Autosomal Recessive Nonsyndromic Deafness 3
Autosomal Recessive Nonsyndromic Deafness 32 Autosomal Recessive Nonsyndromic Deafness 36
Autosomal Dominant Nonsyndromic Deafness 78 Autosomal Dominant Nonsyndromic Deafness 79
Autosomal Recessive Nonsyndromic Deafness 116 Autosomal Dominant Nonsyndromic Deafness 74
Autosomal Dominant Nonsyndromic Deafness 75 Autosomal Dominant Nonsyndromic Deafness 76
Autosomal Dominant Nonsyndromic Deafness 77 Nonsyndromic Deafness
Otof-Related Deafness Familial Deafness

Diseases related to Deafness, Autosomal Dominant 5 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 16)
# Related Disease Score Top Affiliating Genes
1 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.5
2 branchiootic syndrome 1 10.5
3 sensorineural hearing loss 10.3
4 rare genetic deafness 10.3
5 autosomal dominant non-syndromic sensorineural deafness type dfna 10.2
6 autosomal dominant nonsyndromic deafness 10.1
7 hepatocellular carcinoma 10.0
8 adenocarcinoma 10.0
9 nonsyndromic hearing loss 10.0
10 breast cancer 9.9
11 hearing loss, noise-induced 9.9
12 oral squamous cell carcinoma 9.9
13 melanoma 9.9
14 stomatitis 9.9
15 oral cancer 9.9
16 age-related hearing loss 9.9

Graphical network of the top 20 diseases related to Deafness, Autosomal Dominant 5:



Diseases related to Deafness, Autosomal Dominant 5

Symptoms & Phenotypes for Deafness, Autosomal Dominant 5

Human phenotypes related to Deafness, Autosomal Dominant 5:

31
# Description HPO Frequency HPO Source Accession
1 progressive sensorineural hearing impairment 31 HP:0000408

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Ears:
hearing loss, sensorineural, progressive (high frequencies first affected, all frequencies later affected)

Clinical features from OMIM®:

600994 (Updated 05-Apr-2021)

Drugs & Therapeutics for Deafness, Autosomal Dominant 5

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Dominant 5

Genetic Tests for Deafness, Autosomal Dominant 5

Genetic tests related to Deafness, Autosomal Dominant 5:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Dominant 5 29 GSDME

Anatomical Context for Deafness, Autosomal Dominant 5

MalaCards organs/tissues related to Deafness, Autosomal Dominant 5:

40
Breast, Lymph Node, Skin, Monocytes, T Cells

Publications for Deafness, Autosomal Dominant 5

Articles related to Deafness, Autosomal Dominant 5:

(show top 50) (show all 94)
# Title Authors PMID Year
1
A novel DFNA5 mutation, IVS8+4 A>G, in the splice donor site of intron 8 causes late-onset non-syndromic hearing loss in a Chinese family. 61 57 6
17868390 2007
2
A novel mutation identified in the DFNA5 gene in a Dutch family: a clinical and genetic evaluation. 61 6 57
14676472 2004
3
A 3-nucleotide deletion in the polypyrimidine tract of intron 7 of the DFNA5 gene causes nonsyndromic hearing impairment in a Chinese family. 57 6 61
14559215 2003
4
Nonsyndromic hearing impairment is associated with a mutation in DFNA5. 61 6 57
9771715 1998
5
Evidence for a founder mutation causing DFNA5 hearing loss in East Asians. 61 6
19911014 2010
6
A novel DFNA5 mutation does not cause hearing loss in an Iranian family. 57 61
17427029 2007
7
Refined mapping of a gene for autosomal dominant progressive sensorineural hearing loss (DFNA5) to a 2-cM region, and exclusion of a candidate gene that is expressed in the cochlea. 61 57
9450185 1997
8
Localization of a gene for non-syndromic hearing loss (DFNA5) to chromosome 7p15. 61 57
8589696 1995
9
Exome sequencing reveals novel variants and unique allelic spectrum for hearing impairment in Filipino cochlear implantees. 6
30828794 2019
10
Integration of physical, genetic and cytogenetic maps of human chromosome 7: isolation and analysis of yeast artificial chromosome clones for 117 mapped genetic markers. 57
8012362 1994
11
Heterogeneity of dominant high-frequency sensorineural deafness. 57
3168315 1988
12
Follow-up study in a family with dominant progressive hereditary sensorineural hearing impairment. II. Clinical aspects. 57
4051882 1985
13
Follow-up study in a family with dominant progressive hereditary sensorineural hearing impairment. I. Analysis of hearing deterioration. 57
4051873 1985
14
A follow-up study in a family with dominant progressive inner ear deafness. 57
6880675 1983
15
Status and prospects of research in hereditary deafness. 57
4205901 1973
16
Familial progressive sensorineural deafness. 57
5785987 1969
17
Studies on progressive hereditary perceptive deafness in a family of 335 members. II. Characteristic pattern of hearing deterioration. 57
5919633 1966
18
Studies on progressive hereditary perceptive deafness in a family of 335 members. I. Genetical and general audiological results. 57
5919636 1966
19
Dihydroartemisinin induces pyroptosis by promoting the AIM2/caspase-3/DFNA5 axis in breast cancer cells. 61
33689708 2021
20
[Analysis of DFNA5 gene variant in a Chinese pedigree affected with late-onset non-syndromic hearing loss]. 61
33565075 2021
21
A predictive model for assessing prognostic risks in gastric cancer patients using gene expression and methylation data. 61
33407483 2021
22
Programmed cell death pathways in hearing loss: A review of apoptosis, autophagy and programmed necrosis. 61
33047870 2020
23
[Phenotypic and genetic characteristics of a child with 7p15 deletion syndrome]. 61
32761594 2020
24
DFNA5 (GSDME) c.991-15_991-13delTTC: Founder Mutation or Mutational Hotspot? 61
32486382 2020
25
Gasdermins: pore-forming activities and beyond. 61
32294153 2020
26
Expression of genes involved in neurogenesis, and neuronal precursor cell proliferation and development: Novel pathways of human ovarian granulosa cell differentiation and transdifferentiation capability in vitro. 61
32319615 2020
27
Gasdermin E suppresses tumour growth by activating anti-tumour immunity. 61
32188940 2020
28
Case Report: Novel Heterozygous DFNA5 Splicing Variant Responsible for Autosomal Dominant Non-syndromic Hearing Loss in a Chinese Family. 61
33110423 2020
29
Epigenetics-Based Tumor Cells Pyroptosis for Enhancing the Immunological Effect of Chemotherapeutic Nanocarriers. 61
31558023 2019
30
The role of pyroptosis in cancer: pro-cancer or pro-"host"? 61
31501419 2019
31
The deafness gene GSDME: its involvement in cell apoptosis, secondary necrosis, and cancers. 61
31230091 2019
32
Eukaryotic elongation factor-2 kinase regulates the cross-talk between autophagy and pyroptosis in doxorubicin-treated human melanoma cells in vitro. 61
30914761 2019
33
Determination of the Potential Tumor-Suppressive Effects of Gsdme in a Chemically Induced and in a Genetically Modified Intestinal Cancer Mouse Model. 61
31434357 2019
34
Gasdermin pores permeabilize mitochondria to augment caspase-3 activation during apoptosis and inflammasome activation. 61
30976076 2019
35
Molecular Targeted Therapies Elicit Concurrent Apoptotic and GSDME-Dependent Pyroptotic Tumor Cell Death. 61
30061362 2018
36
Association of DFNA5, SYK, and NELL1 variants along with HPV infection in oral cancer among the prolonged tobacco-chewers. 61
30091681 2018
37
Further evidence for "gain-of-function" mechanism of DFNA5 related hearing loss. 61
29849037 2018
38
Exonic mutations and exon skipping: Lessons learned from DFNA5. 61
29266521 2018
39
[Cochlear implantation in a girl with 7q-microdeletion syndrome]. 61
28819893 2018
40
ASC- and caspase-8-dependent apoptotic pathway diverges from the NLRC4 inflammasome in macrophages. 61
29491424 2018
41
Gasdermin E Does Not Limit Apoptotic Cell Disassembly by Promoting Early Onset of Secondary Necrosis in Jurkat T Cells and THP-1 Monocytes. 61
30564238 2018
42
Large-scale analysis of DFNA5 methylation reveals its potential as biomarker for breast cancer. 61
29682089 2018
43
Chemotherapy drugs induce pyroptosis through caspase-3 cleavage of a gasdermin. 61
28459430 2017
44
DFNA5 promoter methylation a marker for breast tumorigenesis. 61
28404884 2017
45
'Hints' in the killer protein gasdermin D: unveiling the secrets of gasdermins driving cell death. 61
28362726 2017
46
Pro-necrotic molecules impact local immunosurveillance in human breast cancer. 61
28507808 2017
47
Cleavage of DFNA5 by caspase-3 during apoptosis mediates progression to secondary necrotic/pyroptotic cell death. 61
28045099 2017
48
APOE*E2 allele delays age of onset in PSEN1 E280A Alzheimer's disease. 61
26619808 2016
49
Distinct Expression Patterns Of Causative Genes Responsible For Hereditary Progressive Hearing Loss In Non-Human Primate Cochlea. 61
26915689 2016
50
Histopathology of the Human Inner Ear in a Patient With Sensorineural Hearing Loss Caused by a Variant in DFNA5. 61
26496673 2015

Variations for Deafness, Autosomal Dominant 5

ClinVar genetic disease variations for Deafness, Autosomal Dominant 5:

6 (show top 50) (show all 77)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GSDME GSDME, INS/DEL, EX8DEL Deletion Pathogenic 2090 GRCh37:
GRCh38:
2 GSDME GSMDE, 3-BP DEL, IVS7, -17CTT Deletion Pathogenic 2091 GRCh37:
GRCh38:
3 GSDME NM_004403.3(GSDME):c.991-6C>G SNV Pathogenic 2092 rs1562687726 GRCh37: 7:24746001-24746001
GRCh38: 7:24706382-24706382
4 GSDME NM_004403.3(GSDME):c.1183+4A>G SNV Pathogenic 2093 rs1562687295 GRCh37: 7:24745799-24745799
GRCh38: 7:24706180-24706180
5 GSDME NM_001127453.2(GSDME):c.1063del (p.Asp355fs) Deletion Pathogenic 997580 GRCh37: 7:24745923-24745923
GRCh38: 7:24706304-24706304
6 GSDME NM_001127453.2(GSDME):c.1173_1174insC (p.Ala392fs) Insertion Pathogenic 998206 GRCh37: 7:24745812-24745813
GRCh38: 7:24706193-24706194
7 GSDME NM_001127453.2(GSDME):c.212-1G>A SNV Likely pathogenic 1030791 GRCh37: 7:24784374-24784374
GRCh38: 7:24744755-24744755
8 GSDME NM_004403.3(GSDME):c.1274_1276ATG[1] (p.Asp426del) Microsatellite Likely pathogenic 163032 rs374353052 GRCh37: 7:24738857-24738859
GRCh38: 7:24699238-24699240
9 GSDME NM_001127453.2(GSDME):c.*299A>G SNV Uncertain significance 908334 GRCh37: 7:24738346-24738346
GRCh38: 7:24698727-24698727
10 GSDME NM_001127453.2(GSDME):c.*239T>C SNV Uncertain significance 908335 GRCh37: 7:24738406-24738406
GRCh38: 7:24698787-24698787
11 GSDME NM_001127453.2(GSDME):c.1193_1196dup (p.Ser399delinsArgTer) Duplication Uncertain significance 225338 rs757421220 GRCh37: 7:24742439-24742440
GRCh38: 7:24702820-24702821
12 GSDME NM_001127453.2(GSDME):c.456T>G (p.Asn152Lys) SNV Uncertain significance 523410 rs148449230 GRCh37: 7:24758786-24758786
GRCh38: 7:24719167-24719167
13 GSDME NM_001127453.2(GSDME):c.430C>A (p.Leu144Ile) SNV Uncertain significance 909248 GRCh37: 7:24758812-24758812
GRCh38: 7:24719193-24719193
14 GSDME NM_001127453.2(GSDME):c.1016C>G (p.Ser339Trp) SNV Uncertain significance 911172 GRCh37: 7:24745970-24745970
GRCh38: 7:24706351-24706351
15 GSDME NM_001127453.2(GSDME):c.934G>A (p.Asp312Asn) SNV Uncertain significance 227286 rs148716975 GRCh37: 7:24747802-24747802
GRCh38: 7:24708183-24708183
16 GSDME NM_001127453.2(GSDME):c.356G>A (p.Arg119Lys) SNV Uncertain significance 911246 GRCh37: 7:24784229-24784229
GRCh38: 7:24744610-24744610
17 GSDME NM_001127453.2(GSDME):c.294G>A (p.Lys98=) SNV Uncertain significance 911247 GRCh37: 7:24784291-24784291
GRCh38: 7:24744672-24744672
18 GSDME NM_001127453.2(GSDME):c.275T>G (p.Leu92Arg) SNV Uncertain significance 911248 GRCh37: 7:24784310-24784310
GRCh38: 7:24744691-24744691
19 GSDME NM_001127453.2(GSDME):c.247A>G (p.Lys83Glu) SNV Uncertain significance 911249 GRCh37: 7:24784338-24784338
GRCh38: 7:24744719-24744719
20 GSDME NM_001127453.2(GSDME):c.635C>T (p.Pro212Leu) SNV Uncertain significance 911374 GRCh37: 7:24756935-24756935
GRCh38: 7:24717316-24717316
21 GSDME NM_001127453.2(GSDME):c.75G>T (p.Leu25=) SNV Uncertain significance 911450 GRCh37: 7:24789319-24789319
GRCh38: 7:24749700-24749700
22 GSDME NM_001127453.2(GSDME):c.325G>A (p.Val109Ile) SNV Uncertain significance 359857 rs202227661 GRCh37: 7:24784260-24784260
GRCh38: 7:24744641-24744641
23 GSDME NM_001127453.2(GSDME):c.577-12T>G SNV Uncertain significance 908399 GRCh37: 7:24757005-24757005
GRCh38: 7:24717386-24717386
24 GSDME NM_001127453.2(GSDME):c.*260A>G SNV Uncertain significance 359833 rs886062223 GRCh37: 7:24738385-24738385
GRCh38: 7:24698766-24698766
25 GSDME NM_004403.3(GSDME):c.-235C>T SNV Uncertain significance 359861 rs886062229 GRCh37: 7:24797541-24797541
GRCh38: 7:24757922-24757922
26 GSDME NM_001127453.2(GSDME):c.611A>T (p.Asp204Val) SNV Uncertain significance 359850 rs376564087 GRCh37: 7:24756959-24756959
GRCh38: 7:24717340-24717340
27 GSDME NM_001127453.2(GSDME):c.1253A>G (p.His418Arg) SNV Uncertain significance 359840 rs886062225 GRCh37: 7:24742383-24742383
GRCh38: 7:24702764-24702764
28 GSDME NM_001127453.2(GSDME):c.358A>C (p.Lys120Gln) SNV Uncertain significance 359856 rs886062227 GRCh37: 7:24784227-24784227
GRCh38: 7:24744608-24744608
29 GSDME NM_001127453.2(GSDME):c.766G>A (p.Asp256Asn) SNV Uncertain significance 359847 rs763468767 GRCh37: 7:24749939-24749939
GRCh38: 7:24710320-24710320
30 GSDME NM_001127453.2(GSDME):c.*583T>G SNV Uncertain significance 359820 rs886062222 GRCh37: 7:24738062-24738062
GRCh38: 7:24698443-24698443
31 GSDME NM_001127453.2(GSDME):c.544G>A (p.Gly182Ser) SNV Uncertain significance 359853 rs745411723 GRCh37: 7:24758698-24758698
GRCh38: 7:24719079-24719079
32 GSDME NM_001127453.2(GSDME):c.480G>C (p.Gln160His) SNV Uncertain significance 359855 rs546120306 GRCh37: 7:24758762-24758762
GRCh38: 7:24719143-24719143
33 GSDME NM_001127453.2(GSDME):c.1121C>T (p.Pro374Leu) SNV Uncertain significance 359843 rs142107866 GRCh37: 7:24745865-24745865
GRCh38: 7:24706246-24706246
34 GSDME NM_001127453.2(GSDME):c.1179C>T (p.Leu393=) SNV Uncertain significance 359841 rs368035633 GRCh37: 7:24745807-24745807
GRCh38: 7:24706188-24706188
35 GSDME NM_001127453.2(GSDME):c.*333T>G SNV Uncertain significance 359829 rs534617327 GRCh37: 7:24738312-24738312
GRCh38: 7:24698693-24698693
36 GSDME NM_004403.3(GSDME):c.-216C>T SNV Uncertain significance 359860 rs886062228 GRCh37: 7:24797522-24797522
GRCh38: 7:24757903-24757903
37 GSDME NM_001127453.2(GSDME):c.685G>A (p.Asp229Asn) SNV Uncertain significance 359848 rs775179954 GRCh37: 7:24756885-24756885
GRCh38: 7:24717266-24717266
38 GSDME NM_001127453.2(GSDME):c.*537C>T SNV Uncertain significance 359821 rs117584512 GRCh37: 7:24738108-24738108
GRCh38: 7:24698489-24698489
39 GSDME NM_001127453.2(GSDME):c.1349G>A (p.Arg450His) SNV Uncertain significance 359838 rs764724618 GRCh37: 7:24738787-24738787
GRCh38: 7:24699168-24699168
40 GSDME NM_001127453.2(GSDME):c.225G>A (p.Ser75=) SNV Uncertain significance 359858 rs191022542 GRCh37: 7:24784360-24784360
GRCh38: 7:24744741-24744741
41 GSDME NM_001127453.2(GSDME):c.*326C>A SNV Uncertain significance 359830 rs554412975 GRCh37: 7:24738319-24738319
GRCh38: 7:24698700-24698700
42 GSDME NM_001127453.2(GSDME):c.1156G>A (p.Ala386Thr) SNV Uncertain significance 359842 rs371802634 GRCh37: 7:24745830-24745830
GRCh38: 7:24706211-24706211
43 GSDME NM_001127453.2(GSDME):c.528C>T (p.Val176=) SNV Likely benign 359854 rs138741730 GRCh37: 7:24758714-24758714
GRCh38: 7:24719095-24719095
44 GSDME NM_001127453.2(GSDME):c.*72C>T SNV Likely benign 359835 rs115865539 GRCh37: 7:24738573-24738573
GRCh38: 7:24698954-24698954
45 GSDME NM_001127453.2(GSDME):c.584C>T (p.Ala195Val) SNV Likely benign 359851 rs534396774 GRCh37: 7:24756986-24756986
GRCh38: 7:24717367-24717367
46 GSDME NM_001127453.2(GSDME):c.*24G>A SNV Likely benign 359837 rs199887441 GRCh37: 7:24738621-24738621
GRCh38: 7:24699002-24699002
47 GSDME NM_001127453.2(GSDME):c.*321T>G SNV Likely benign 359831 rs573722628 GRCh37: 7:24738324-24738324
GRCh38: 7:24698705-24698705
48 GSDME NM_001127453.2(GSDME):c.*346G>C SNV Likely benign 359828 rs144928530 GRCh37: 7:24738299-24738299
GRCh38: 7:24698680-24698680
49 GSDME NM_001127453.2(GSDME):c.1208T>C (p.Leu403Pro) SNV Likely benign 517175 rs199971778 GRCh37: 7:24742428-24742428
GRCh38: 7:24702809-24702809
50 GSDME NM_001127453.2(GSDME):c.1183+9A>T SNV Likely benign 44838 rs397516910 GRCh37: 7:24745794-24745794
GRCh38: 7:24706175-24706175

Expression for Deafness, Autosomal Dominant 5

Search GEO for disease gene expression data for Deafness, Autosomal Dominant 5.

Pathways for Deafness, Autosomal Dominant 5

GO Terms for Deafness, Autosomal Dominant 5

Sources for Deafness, Autosomal Dominant 5

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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