DFNA25
MCID: DFN189
MIFTS: 39

Deafness, Autosomal Dominant 25 (DFNA25)

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

Aliases & Classifications for Deafness, Autosomal Dominant 25

MalaCards integrated aliases for Deafness, Autosomal Dominant 25:

Name: Deafness, Autosomal Dominant 25 57 29 13 6 70
Dfna25 57 12 72
Autosomal Dominant Nonsyndromic Deafness 25 12 15
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 25 72
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 25 72
Deafness, Autosomal Dominant, Type 25 39
Deafness, Autosomal Dominant, 25 72
Autosomal Dominant Deafness 25 12

Characteristics:

OMIM®:

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

Miscellaneous:
variable severity
variable audiometric pattern
variable age of onset, ranging from 3 months to over 60 years of age
affected male members reported earlier onset and were more severely affected
two families have been reported (last curated may 2016)


HPO:

31
deafness, autosomal dominant 25:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity


Classifications:



External Ids:

Disease Ontology 12 DOID:0110555
OMIM® 57 605583
OMIM Phenotypic Series 57 PS124900
MeSH 44 D006319
ICD10 32 H90.3
MedGen 41 C1854158
SNOMED-CT via HPO 68 263681008 60700002
UMLS 70 C1854158

Summaries for Deafness, Autosomal Dominant 25

UniProtKB/Swiss-Prot : 72 Deafness, autosomal dominant, 25: 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. DFNA25 expression is variable in terms of onset and rate of progression, with an age-dependent penetrance resembling an early-onset presbycusis, or senile deafness, a progressive bilateral loss of hearing that occurs in the aged.

MalaCards based summary : Deafness, Autosomal Dominant 25, also known as dfna25, is related to sensorineural hearing loss and autosomal dominant non-syndromic sensorineural deafness type dfna. An important gene associated with Deafness, Autosomal Dominant 25 is SLC17A8 (Solute Carrier Family 17 Member 8), and among its related pathways/superpathways are Circadian entrainment and Synaptic vesicle cycle. Related phenotypes are sensorineural hearing impairment and behavior/neurological

Disease Ontology : 12 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the second-sixth decade of life with high frequency progressive hearing loss and has material basis in mutation in the SLC17A8 gene on chromosome 12q23.

More information from OMIM: 605583 PS124900

Related Diseases for Deafness, Autosomal Dominant 25

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 25 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 61)
# Related Disease Score Top Affiliating Genes
1 sensorineural hearing loss 28.7 SLC26A5 SLC17A8 POU4F3 OTOF MYO7A KCNQ4
2 autosomal dominant non-syndromic sensorineural deafness type dfna 28.1 SLC17A8 POU4F3 OTOF MYO7A KCNQ4 CEACAM16
3 y-linked monogenic disease 10.3 OTOF KCNQ4
4 acute hemorrhagic leukoencephalitis 10.2 SLC17A8 KCNQ4
5 deafness, autosomal dominant 36 10.2 OTOF KCNQ4
6 auditory neuropathy, autosomal dominant, 1 10.2 SLC17A8 OTOF KCNQ4
7 branchiootic syndrome 1 10.1
8 deafness, autosomal dominant 20 10.1 POU4F3 KCNQ4
9 auditory neuropathy spectrum disorder 10.1 OTOF MYO7A
10 deafness, autosomal dominant 64 10.1 SLC17A8 KCNQ4 CEACAM16
11 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
12 age-related hearing loss 10.1
13 deafness, autosomal recessive 83 10.1 OTOF MYO7A
14 autosomal recessive nonsyndromic deafness 10.1 OTOF MYO7A
15 autosomal recessive nonsyndromic deafness 3 10.0 OTOF MYO7A
16 dfnb1 10.0 OTOF MYO7A
17 usher syndrome, type ic 10.0 SLC17A8 MYO7A
18 deafness, autosomal dominant 17 10.0 MYO7A KCNQ4
19 x-linked nonsyndromic deafness 10.0 POU4F3 OTOF
20 deafness, autosomal recessive 61 10.0 SLC26A5 SLC17A8 OTOF
21 neuropathy, hereditary, with liability to pressure palsies 10.0 SLC17A7 SLC17A6
22 kaufman oculocerebrofacial syndrome 10.0 UBE3B SLC17A7 SLC17A6
23 deafness, autosomal recessive 7 10.0 OTOF MYO7A
24 deafness, autosomal dominant 41 10.0 ZNF664 POU4F3 KCNQ4
25 deafness, autosomal recessive 9 10.0 SLC17A8 OTOF MYO7A
26 deafness, autosomal recessive 2 10.0 OTOF MYO7A
27 vestibular disease 9.9 OTOF MYO7A KCNQ4
28 peripheral vertigo 9.9 MYO7A KCNQ4
29 deafness, autosomal recessive 1a 9.9 OTOF MYO7A KCNQ4
30 deafness, autosomal dominant 13 9.9 KCNQ4 CCDC50
31 inner ear disease 9.9 OTOF MYO7A KCNQ4
32 waardenburg's syndrome 9.9 OTOF MYO7A KCNQ4
33 nonsyndromic deafness 9.9
34 meniere disease 9.9 MYO7A KCNQ4
35 deafness, autosomal dominant 11 9.9 POU4F3 MYO7A
36 deafness, autosomal dominant 43 9.8 POU4F3 CCDC50
37 deafness, autosomal recessive 12 9.8 OTOF MYO7A CEACAM16
38 deafness, autosomal dominant 6 9.8 POU4F3 MYO7A KCNQ4
39 branchiootic syndrome 9.8 MYO7A KCNQ4
40 pendred syndrome 9.8 SLC26A5 OTOF MYO7A
41 deafness, autosomal dominant 50 9.8 POU4F3 CCDC50
42 deafness, autosomal dominant 24 9.7 SLC17A8 POU4F3 CCDC50
43 deafness, autosomal dominant 18 9.7 POU4F3 KCNQ4 CCDC50
44 deafness, autosomal dominant 2b 9.7 POU4F3 KCNQ4 CCDC50
45 deafness, autosomal dominant 44 9.7 POU4F3 KCNQ4 CCDC50
46 non-syndromic genetic deafness 9.7 OTOF MYO7A KCNQ4 CEACAM16
47 deafness, autosomal dominant 10 9.7 POU4F3 KCNQ4 CCDC50
48 usher syndrome, type id 9.7 OTOF MYO7A
49 deafness, autosomal dominant 9 9.7 SLC17A8 POU4F3 MYO7A KCNQ4
50 rare genetic deafness 9.7 OTOF MYO7A KCNQ4 CEACAM16

Graphical network of the top 20 diseases related to Deafness, Autosomal Dominant 25:



Diseases related to Deafness, Autosomal Dominant 25

Symptoms & Phenotypes for Deafness, Autosomal Dominant 25

Human phenotypes related to Deafness, Autosomal Dominant 25:

31
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 31 obligate (100%) HP:0000407

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Ears:
hearing loss, sensorineural, progressive, high-frequency
normal vestibular function

Clinical features from OMIM®:

605583 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Deafness, Autosomal Dominant 25:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.81 CEACAM16 MYO7A OTOF POU4F3 SLC17A6 SLC17A7
2 hearing/vestibular/ear MP:0005377 9.56 CEACAM16 KCNQ4 MYO7A OTOF POU4F3 SLC17A8
3 nervous system MP:0003631 9.28 KCNQ4 MYO7A OTOF POU4F3 SLC17A6 SLC17A7

Drugs & Therapeutics for Deafness, Autosomal Dominant 25

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Prevalence of POU4F3 (DFNA15) and SLC17A8 (DFNA25) Genes Mutations in Dominant Autosomal Deafness and Phenotypic Characterization of Carrier Patients. Terminated NCT01802190

Search NIH Clinical Center for Deafness, Autosomal Dominant 25

Genetic Tests for Deafness, Autosomal Dominant 25

Genetic tests related to Deafness, Autosomal Dominant 25:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Dominant 25 29 SLC17A8

Anatomical Context for Deafness, Autosomal Dominant 25

Publications for Deafness, Autosomal Dominant 25

Articles related to Deafness, Autosomal Dominant 25:

# Title Authors PMID Year
1
Impairment of SLC17A8 encoding vesicular glutamate transporter-3, VGLUT3, underlies nonsyndromic deafness DFNA25 and inner hair cell dysfunction in null mice. 61 6 57
18674745 2008
2
Phenotypic characterization of hereditary hearing impairment linked to DFNA25. 57 61
12925340 2003
3
Molecular characterization of a 12q22-q24 deletion associated with congenital deafness: confirmation and refinement of the DFNA25 locus. 57 61
12567408 2003
4
DFNA25, a novel locus for dominant nonsyndromic hereditary hearing impairment, maps to 12q21-24. 57 61
11115382 2001
5
Sensorineural deafness and seizures in mice lacking vesicular glutamate transporter 3. 57
18215623 2008
6
Screening of the SLC17A8 gene as a causative factor for autosomal dominant non-syndromic hearing loss in Koreans. 61
26797701 2016
7
A novel locus for autosomal dominant non-syndromic deafness (DFNA41) maps to chromosome 12q24-qter. 61
12161595 2002

Variations for Deafness, Autosomal Dominant 25

ClinVar genetic disease variations for Deafness, Autosomal Dominant 25:

6 (show top 50) (show all 78)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC17A8 NM_139319.3(SLC17A8):c.632C>T (p.Ala211Val) SNV Pathogenic 3109 rs121918339 GRCh37: 12:100790151-100790151
GRCh38: 12:100396373-100396373
2 SLC17A8 NM_139319.3(SLC17A8):c.1120G>T (p.Ala374Ser) SNV Conflicting interpretations of pathogenicity 225471 rs138307707 GRCh37: 12:100797882-100797882
GRCh38: 12:100404104-100404104
3 SLC17A8 NM_139319.3(SLC17A8):c.1404C>T (p.Val468=) SNV Uncertain significance 227948 rs140537845 GRCh37: 12:100811913-100811913
GRCh38: 12:100418135-100418135
4 SLC17A8 NM_139319.3(SLC17A8):c.1396C>A (p.Leu466Ile) SNV Uncertain significance 179803 rs201180712 GRCh37: 12:100811905-100811905
GRCh38: 12:100418127-100418127
5 SLC17A8 NM_139319.3(SLC17A8):c.170C>T (p.Thr57Met) SNV Uncertain significance 452551 rs773887574 GRCh37: 12:100774547-100774547
GRCh38: 12:100380769-100380769
6 SLC17A8 NM_139319.3(SLC17A8):c.*1883T>C SNV Uncertain significance 884045 GRCh37: 12:100815820-100815820
GRCh38: 12:100422042-100422042
7 SLC17A8 NM_139319.3(SLC17A8):c.638C>G (p.Pro213Arg) SNV Uncertain significance 306627 rs369209552 GRCh37: 12:100790157-100790157
GRCh38: 12:100396379-100396379
8 SLC17A8 NM_139319.3(SLC17A8):c.*1587A>G SNV Uncertain significance 306660 rs886048802 GRCh37: 12:100815524-100815524
GRCh38: 12:100421746-100421746
9 SLC17A8 NM_139319.3(SLC17A8):c.-32T>G SNV Uncertain significance 306621 rs760431477 GRCh37: 12:100751138-100751138
GRCh38: 12:100357360-100357360
10 SLC17A8 NM_139319.3(SLC17A8):c.118A>G (p.Thr40Ala) SNV Uncertain significance 306622 rs138232575 GRCh37: 12:100774495-100774495
GRCh38: 12:100380717-100380717
11 SLC17A8 NM_139319.3(SLC17A8):c.566G>A (p.Arg189Lys) SNV Uncertain significance 880613 GRCh37: 12:100787239-100787239
GRCh38: 12:100393461-100393461
12 SLC17A8 NM_139319.3(SLC17A8):c.687A>C (p.Ala229=) SNV Uncertain significance 880614 GRCh37: 12:100795565-100795565
GRCh38: 12:100401787-100401787
13 SLC17A8 NM_139319.3(SLC17A8):c.-93A>G SNV Uncertain significance 883123 GRCh37: 12:100751077-100751077
GRCh38: 12:100357299-100357299
14 SLC17A8 NM_139319.3(SLC17A8):c.-72A>T SNV Uncertain significance 883124 GRCh37: 12:100751098-100751098
GRCh38: 12:100357320-100357320
15 SLC17A8 NM_139319.3(SLC17A8):c.1106T>C (p.Ile369Thr) SNV Uncertain significance 883186 GRCh37: 12:100797868-100797868
GRCh38: 12:100404090-100404090
16 SLC17A8 NM_139319.3(SLC17A8):c.1331G>T (p.Arg444Leu) SNV Uncertain significance 883187 GRCh37: 12:100811840-100811840
GRCh38: 12:100418062-100418062
17 SLC17A8 NM_139319.3(SLC17A8):c.*1223T>A SNV Uncertain significance 883239 GRCh37: 12:100815160-100815160
GRCh38: 12:100421382-100421382
18 SLC17A8 NM_139319.3(SLC17A8):c.109G>A (p.Asp37Asn) SNV Uncertain significance 883900 GRCh37: 12:100774486-100774486
GRCh38: 12:100380708-100380708
19 SLC17A8 NM_139319.3(SLC17A8):c.110A>G (p.Asp37Gly) SNV Uncertain significance 883901 GRCh37: 12:100774487-100774487
GRCh38: 12:100380709-100380709
20 SLC17A8 NM_139319.3(SLC17A8):c.124G>A (p.Glu42Lys) SNV Uncertain significance 883902 GRCh37: 12:100774501-100774501
GRCh38: 12:100380723-100380723
21 SLC17A8 NM_139319.3(SLC17A8):c.1430G>A (p.Arg477His) SNV Uncertain significance 883976 GRCh37: 12:100813597-100813597
GRCh38: 12:100419819-100419819
22 SLC17A8 NM_139319.3(SLC17A8):c.1445A>C (p.Asn482Thr) SNV Uncertain significance 883977 GRCh37: 12:100813612-100813612
GRCh38: 12:100419834-100419834
23 SLC17A8 NM_139319.3(SLC17A8):c.1619C>T (p.Ala540Val) SNV Uncertain significance 883978 GRCh37: 12:100813786-100813786
GRCh38: 12:100420008-100420008
24 SLC17A8 NM_139319.3(SLC17A8):c.1645G>A (p.Gly549Arg) SNV Uncertain significance 883979 GRCh37: 12:100813812-100813812
GRCh38: 12:100420034-100420034
25 SLC17A8 NM_139319.3(SLC17A8):c.*209T>C SNV Uncertain significance 883980 GRCh37: 12:100814146-100814146
GRCh38: 12:100420368-100420368
26 SLC17A8 NM_139319.3(SLC17A8):c.903+1G>A SNV Uncertain significance 632178 rs1566400632 GRCh37: 12:100796258-100796258
GRCh38: 12:100402480-100402480
27 SLC17A8 NM_139319.3(SLC17A8):c.*1140T>C SNV Uncertain significance 306647 rs886048795 GRCh37: 12:100815077-100815077
GRCh38: 12:100421299-100421299
28 SLC17A8 NM_139319.3(SLC17A8):c.221A>C (p.Lys74Thr) SNV Uncertain significance 306624 rs748939449 GRCh37: 12:100774598-100774598
GRCh38: 12:100380820-100380820
29 SLC17A8 NM_139319.3(SLC17A8):c.658G>A (p.Ala220Thr) SNV Uncertain significance 306628 rs11568530 GRCh37: 12:100790177-100790177
GRCh38: 12:100396399-100396399
30 SLC17A8 NM_139319.3(SLC17A8):c.*335C>T SNV Uncertain significance 306641 rs886048792 GRCh37: 12:100814272-100814272
GRCh38: 12:100420494-100420494
31 SLC17A8 NM_139319.3(SLC17A8):c.*534T>C SNV Uncertain significance 306644 rs147059443 GRCh37: 12:100814471-100814471
GRCh38: 12:100420693-100420693
32 SLC17A8 NM_139319.3(SLC17A8):c.762T>C (p.Tyr254=) SNV Uncertain significance 306630 rs372662765 GRCh37: 12:100795640-100795640
GRCh38: 12:100401862-100401862
33 SLC17A8 NM_139319.3(SLC17A8):c.*1486A>G SNV Uncertain significance 306650 rs886048797 GRCh37: 12:100815423-100815423
GRCh38: 12:100421645-100421645
34 SLC17A8 NM_139319.3(SLC17A8):c.1015G>A (p.Ala339Thr) SNV Uncertain significance 306633 rs138984845 GRCh37: 12:100796485-100796485
GRCh38: 12:100402707-100402707
35 SLC17A8 NM_139319.3(SLC17A8):c.*1716C>T SNV Uncertain significance 306661 rs886048803 GRCh37: 12:100815653-100815653
GRCh38: 12:100421875-100421875
36 SLC17A8 NM_139319.3(SLC17A8):c.*178G>A SNV Uncertain significance 306639 rs878879094 GRCh37: 12:100814115-100814115
GRCh38: 12:100420337-100420337
37 SLC17A8 NM_139319.3(SLC17A8):c.*357A>G SNV Uncertain significance 306642 rs886048793 GRCh37: 12:100814294-100814294
GRCh38: 12:100420516-100420516
38 SLC17A8 NM_139319.3(SLC17A8):c.*1502T>G SNV Uncertain significance 306658 rs886048801 GRCh37: 12:100815439-100815439
GRCh38: 12:100421661-100421661
39 SLC17A8 NM_139319.3(SLC17A8):c.*715A>C SNV Uncertain significance 306645 rs886048794 GRCh37: 12:100814652-100814652
GRCh38: 12:100420874-100420874
40 SLC17A8 NM_139319.3(SLC17A8):c.530C>T (p.Ala177Val) SNV Uncertain significance 306626 rs752140106 GRCh37: 12:100787203-100787203
GRCh38: 12:100393425-100393425
41 SLC17A8 NM_139319.3(SLC17A8):c.-88A>C SNV Uncertain significance 306620 rs780354237 GRCh37: 12:100751082-100751082
GRCh38: 12:100357304-100357304
42 SLC17A8 NM_139319.3(SLC17A8):c.913A>G (p.Thr305Ala) SNV Uncertain significance 306631 rs763702478 GRCh37: 12:100796383-100796383
GRCh38: 12:100402605-100402605
43 SLC17A8 NM_139319.3(SLC17A8):c.1016C>A (p.Ala339Asp) SNV Uncertain significance 306634 rs142232146 GRCh37: 12:100796486-100796486
GRCh38: 12:100402708-100402708
44 SLC17A8 NM_139319.3(SLC17A8):c.210C>T (p.Cys70=) SNV Uncertain significance 306623 rs374356596 GRCh37: 12:100774587-100774587
GRCh38: 12:100380809-100380809
45 SLC17A8 NM_139319.3(SLC17A8):c.*244G>A SNV Uncertain significance 306640 rs886048791 GRCh37: 12:100814181-100814181
GRCh38: 12:100420403-100420403
46 SLC17A8 NM_139319.3(SLC17A8):c.354+7A>T SNV Uncertain significance 306625 rs886048787 GRCh37: 12:100774738-100774738
GRCh38: 12:100380960-100380960
47 SLC17A8 NM_139319.3(SLC17A8):c.958A>G (p.Ile320Val) SNV Uncertain significance 306632 rs886048788 GRCh37: 12:100796428-100796428
GRCh38: 12:100402650-100402650
48 SLC17A8 NM_139319.3(SLC17A8):c.*1306C>T SNV Uncertain significance 306649 rs886048796 GRCh37: 12:100815243-100815243
GRCh38: 12:100421465-100421465
49 SLC17A8 NM_139319.3(SLC17A8):c.1253C>T (p.Ser418Phe) SNV Uncertain significance 306635 rs886048789 GRCh37: 12:100806614-100806614
GRCh38: 12:100412836-100412836
50 SLC17A8 NM_139319.3(SLC17A8):c.*540A>G SNV Uncertain significance 880691 GRCh37: 12:100814477-100814477
GRCh38: 12:100420699-100420699

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Dominant 25:

72
# Symbol AA change Variation ID SNP ID
1 SLC17A8 p.Ala211Val VAR_054130 rs121918339

Expression for Deafness, Autosomal Dominant 25

Search GEO for disease gene expression data for Deafness, Autosomal Dominant 25.

Pathways for Deafness, Autosomal Dominant 25

Pathways related to Deafness, Autosomal Dominant 25 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.13 SLC17A8 SLC17A7 SLC17A6 KCNQ4
2
Show member pathways
11.25 SLC17A8 SLC17A7 SLC17A6
3 10.4 SLC17A8 SLC17A7 SLC17A6

GO Terms for Deafness, Autosomal Dominant 25

Cellular components related to Deafness, Autosomal Dominant 25 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.72 SLC17A8 SLC17A7 SLC17A6 OTOF MYO7A
2 synapse GO:0045202 9.65 SLC17A8 SLC17A7 SLC17A6 OTOF MYO7A
3 integral component of synaptic vesicle membrane GO:0030285 9.33 SLC17A8 SLC17A7 SLC17A6
4 excitatory synapse GO:0060076 9.13 SLC17A8 SLC17A7 SLC17A6
5 synaptic vesicle membrane GO:0030672 8.92 SLC17A8 SLC17A7 SLC17A6 OTOF

Biological processes related to Deafness, Autosomal Dominant 25 according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.89 SLC26A5 SLC17A8 SLC17A7 SLC17A6 KCNQ4
2 ion transport GO:0006811 9.85 SLC17A8 SLC17A7 SLC17A6 KCNQ4
3 sodium ion transport GO:0006814 9.7 SLC17A8 SLC17A7 SLC17A6
4 inner ear morphogenesis GO:0042472 9.61 POU4F3 MYO7A KCNQ4
5 neurotransmitter transport GO:0006836 9.58 SLC17A8 SLC17A7 SLC17A6
6 cochlea development GO:0090102 9.54 SLC26A5 SLC17A8
7 anion transport GO:0006820 9.54 SLC17A8 SLC17A7 SLC17A6
8 neural retina development GO:0003407 9.51 SLC17A8 SLC17A7
9 synaptic transmission, glutamatergic GO:0035249 9.5 SLC17A8 SLC17A7 SLC17A6
10 inner ear receptor cell differentiation GO:0060113 9.48 POU4F3 MYO7A
11 inner ear auditory receptor cell differentiation GO:0042491 9.46 POU4F3 MYO7A
12 L-glutamate transmembrane transport GO:0015813 9.43 SLC17A8 SLC17A7 SLC17A6
13 regulation of synapse structure or activity GO:0050803 9.33 SLC17A8 SLC17A7 SLC17A6
14 sensory perception of sound GO:0007605 9.23 SLC26A5 SLC17A8 POU4F3 OTOF MYO7A KCNQ4
15 neurotransmitter loading into synaptic vesicle GO:0098700 9.13 SLC17A8 SLC17A7 SLC17A6

Molecular functions related to Deafness, Autosomal Dominant 25 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane transporter activity GO:0022857 9.5 SLC17A8 SLC17A7 SLC17A6
2 symporter activity GO:0015293 9.33 SLC17A8 SLC17A7 SLC17A6
3 spectrin binding GO:0030507 9.26 SLC26A5 MYO7A
4 neurotransmitter transporter activity GO:0005326 9.13 SLC17A8 SLC17A7 SLC17A6
5 L-glutamate transmembrane transporter activity GO:0005313 8.8 SLC17A8 SLC17A7 SLC17A6

Sources for Deafness, Autosomal Dominant 25

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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