DFNA1
MCID: DFN131
MIFTS: 35

Deafness, Autosomal Dominant 1 (DFNA1)

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

Aliases & Classifications for Deafness, Autosomal Dominant 1

MalaCards integrated aliases for Deafness, Autosomal Dominant 1:

Name: Deafness, Autosomal Dominant 1 57 29 13 6 73
Konigsmark Syndrome 57 12 75
Dfna1 57 12 75
Deafness, Autosomal Dominant 1, with or Without Thrombocytopenia 57 75
Autosomal Dominant Nonsyndromic Deafness 1 12 15
Lfhl1 12 75
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome 59
Diaph1-Related Sensorineural Deafness-Thrombocytopenia Syndrome 59
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 1 75
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 1 75
Hereditary Low-Frequency Sensorineural Hearing Loss 75
Hereditary Low Frequency Hearing Loss 1 12
Hereditary Low-Frequency Hearing Loss 75
Deafness, Autosomal Dominant, 1 75
Autosomal Dominant Deafness 1 12
Lfsnhl1 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset of deafness in the first decade
rapidly progressive hearing loss
thrombocytopenia is most often asymptomatic and an incidental finding


HPO:

32
deafness, autosomal dominant 1:
Onset and clinical course childhood onset
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 124900
Disease Ontology 12 DOID:0110541
ICD10 33 H90.3
Orphanet 59 ORPHA494444
MedGen 42 C1852282
MeSH 44 D006319
UMLS 73 C1852282

Summaries for Deafness, Autosomal Dominant 1

UniProtKB/Swiss-Prot : 75 Deafness, autosomal dominant, 1: 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. Patients may have mild thrombocytopenia and enlarged platelets, although most of DFNA1 affected individuals do not have significant bleeding tendencies.

MalaCards based summary : Deafness, Autosomal Dominant 1, also known as konigsmark syndrome, is related to deafness, autosomal dominant 6 and nonsyndromic deafness. An important gene associated with Deafness, Autosomal Dominant 1 is DIAPH1 (Diaphanous Related Formin 1), and among its related pathways/superpathways are Actin Nucleation by ARP-WASP Complex and RhoGDI Pathway. Affiliated tissues include brain, and related phenotypes are sensorineural hearing impairment and thrombocytopenia

Disease Ontology : 12 An autosomal dominant nonsyndromic deafness that is characterized by low frequency progressive hearing loss and has material basis in mutation in the DIAPH1 gene on chromosome 5q31.

OMIM : 57 DFNA1 is an autosomal dominant form of progressive hearing loss with onset in the first decade. Some patients may have mild thrombocytopenia and enlarged platelets, although most of these individuals do not have significant bleeding tendencies (summary by Neuhaus et al., 2017). (124900)

Related Diseases for Deafness, Autosomal Dominant 1

Diseases in the Familial Deafness family:

Deafness, Autosomal Dominant 1 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
Nonsyndromic Deafness 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 105 Autosomal Recessive Nonsyndromic Deafness 3
Autosomal Recessive Nonsyndromic Deafness 32 Autosomal Recessive Nonsyndromic Deafness 36
Autosomal Recessive Nonsyndromic Deafness 86 Otof-Related Deafness

Diseases related to Deafness, Autosomal Dominant 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal dominant 6 31.7 WFS1 DIAPH1
2 nonsyndromic deafness 29.1 WFS1 OSBPL2 MYO3A MYO1A DIAPH1
3 deafness, conductive, with malformed external ear 11.3
4 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
5 deafness, autosomal dominant 67 10.0 OSBPL2 DIAPH1
6 deafness, autosomal dominant 48 9.9 MYO3A MYO1A
7 deafness, autosomal recessive 37 9.8 MYO3A MYO1A
8 deafness, autosomal dominant 22 9.8 MYO3A MYO1A
9 sensorineural hearing loss 9.8 WFS1 DIAPH1
10 deafness, autosomal dominant 17 9.8 MYO3A MYO1A
11 deafness, autosomal recessive 30 9.8 MYO3A MYO1A
12 autosomal recessive nonsyndromic deafness 3 9.8 MYO3A MYO1A
13 autosomal dominant nonsyndromic deafness 9.5 WFS1 OSBPL2 MYO1A DIAPH1

Graphical network of the top 20 diseases related to Deafness, Autosomal Dominant 1:



Diseases related to Deafness, Autosomal Dominant 1

Symptoms & Phenotypes for Deafness, Autosomal Dominant 1

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
hearing loss, sensorineural (affecting all frequencies)

Hematology:
thrombocytopenia (in some patients)
enlarged platelets (in some patients)
increased bleeding tendency (in some patients)


Clinical features from OMIM:

124900

Human phenotypes related to Deafness, Autosomal Dominant 1:

32
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 32 HP:0000407
2 thrombocytopenia 32 occasional (7.5%) HP:0001873
3 progressive hearing impairment 32 HP:0001730
4 low-frequency hearing loss 32 HP:0008542

GenomeRNAi Phenotypes related to Deafness, Autosomal Dominant 1 according to GeneCards Suite gene sharing:

26 (show all 14)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.47 MYO1A
2 Increased shRNA abundance (Z-score > 2) GR00366-A-131 9.47 MYO1A MYO3A
3 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.47 MYO3A
4 Increased shRNA abundance (Z-score > 2) GR00366-A-156 9.47 MYO1A
5 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.47 MYO3A
6 Increased shRNA abundance (Z-score > 2) GR00366-A-162 9.47 MYO1A
7 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.47 MYO1A
8 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.47 MYO1A
9 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.47 MYO1A
10 Increased shRNA abundance (Z-score > 2) GR00366-A-45 9.47 MYO1A
11 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.47 MYO1A
12 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.47 MYO3A
13 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.47 MYO3A
14 Decreased Salmonella enterica Typhimurium effector injection GR00133-A-4 8.96 DIAPH1 MYO3A

Drugs & Therapeutics for Deafness, Autosomal Dominant 1

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Dominant 1

Genetic Tests for Deafness, Autosomal Dominant 1

Genetic tests related to Deafness, Autosomal Dominant 1:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Dominant 1 29 DIAPH1

Anatomical Context for Deafness, Autosomal Dominant 1

MalaCards organs/tissues related to Deafness, Autosomal Dominant 1:

41
Brain

Publications for Deafness, Autosomal Dominant 1

Variations for Deafness, Autosomal Dominant 1

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Dominant 1:

75
# Symbol AA change Variation ID SNP ID
1 DIAPH1 p.Pro678Ser VAR_079874 rs186370335

ClinVar genetic disease variations for Deafness, Autosomal Dominant 1:

6 (show top 50) (show all 149)
# Gene Variation Type Significance SNP ID Assembly Location
1 DIAPH1 DIAPH1, IVS17DS, G-T, +1 single nucleotide variant Pathogenic
2 DIAPH1 NM_005219.4(DIAPH1): c.1407T> C (p.Ile469=) single nucleotide variant Benign/Likely benign rs75860159 GRCh37 Chromosome 5, 140955851: 140955851
3 DIAPH1 NM_005219.4(DIAPH1): c.1407T> C (p.Ile469=) single nucleotide variant Benign/Likely benign rs75860159 GRCh38 Chromosome 5, 141576284: 141576284
4 DIAPH1 NM_005219.4(DIAPH1): c.2162C> A (p.Pro721His) single nucleotide variant Uncertain significance rs373520931 GRCh37 Chromosome 5, 140953255: 140953255
5 DIAPH1 NM_005219.4(DIAPH1): c.2162C> A (p.Pro721His) single nucleotide variant Uncertain significance rs373520931 GRCh38 Chromosome 5, 141573688: 141573688
6 DIAPH1 NM_005219.4(DIAPH1): c.2032C> T (p.Pro678Ser) single nucleotide variant Benign/Likely benign rs186370335 GRCh37 Chromosome 5, 140953385: 140953385
7 DIAPH1 NM_005219.4(DIAPH1): c.2032C> T (p.Pro678Ser) single nucleotide variant Benign/Likely benign rs186370335 GRCh38 Chromosome 5, 141573818: 141573818
8 DIAPH1 NM_005219.4(DIAPH1): c.1423G> A (p.Glu475Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs193036129 GRCh37 Chromosome 5, 140955835: 140955835
9 DIAPH1 NM_005219.4(DIAPH1): c.1423G> A (p.Glu475Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs193036129 GRCh38 Chromosome 5, 141576268: 141576268
10 DIAPH1 NM_005219.4(DIAPH1): c.2158C> T (p.Leu720Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs200606811 GRCh37 Chromosome 5, 140953259: 140953259
11 DIAPH1 NM_005219.4(DIAPH1): c.2158C> T (p.Leu720Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs200606811 GRCh38 Chromosome 5, 141573692: 141573692
12 DIAPH1 NM_005219.4(DIAPH1): c.3675C> T (p.Ala1225=) single nucleotide variant Likely benign rs371385202 GRCh37 Chromosome 5, 140896562: 140896562
13 DIAPH1 NM_005219.4(DIAPH1): c.3675C> T (p.Ala1225=) single nucleotide variant Likely benign rs371385202 GRCh38 Chromosome 5, 141516995: 141516995
14 DIAPH1 NM_005219.4(DIAPH1): c.3358G> A (p.Glu1120Lys) single nucleotide variant Uncertain significance rs756003432 GRCh38 Chromosome 5, 141526377: 141526377
15 DIAPH1 NM_005219.4(DIAPH1): c.3358G> A (p.Glu1120Lys) single nucleotide variant Uncertain significance rs756003432 GRCh37 Chromosome 5, 140905944: 140905944
16 DIAPH1 NM_005219.4(DIAPH1): c.118-9G> A single nucleotide variant Likely benign GRCh38 Chromosome 5, 141588259: 141588259
17 DIAPH1 NM_005219.4(DIAPH1): c.118-9G> A single nucleotide variant Likely benign GRCh37 Chromosome 5, 140967826: 140967826
18 DIAPH1 NM_005219.4(DIAPH1): c.3701C> T (p.Ala1234Val) single nucleotide variant Uncertain significance rs764739820 GRCh37 Chromosome 5, 140896536: 140896536
19 DIAPH1 NM_005219.4(DIAPH1): c.3701C> T (p.Ala1234Val) single nucleotide variant Uncertain significance rs764739820 GRCh38 Chromosome 5, 141516969: 141516969
20 DIAPH1 NM_005219.4(DIAPH1): c.3439-3delC deletion Likely benign GRCh37 Chromosome 5, 140905743: 140905743
21 DIAPH1 NM_005219.4(DIAPH1): c.3439-3delC deletion Likely benign GRCh38 Chromosome 5, 141526176: 141526176
22 DIAPH1 NM_005219.4(DIAPH1): c.3003C> G (p.Ile1001Met) single nucleotide variant Uncertain significance GRCh37 Chromosome 5, 140908284: 140908284
23 DIAPH1 NM_005219.4(DIAPH1): c.3003C> G (p.Ile1001Met) single nucleotide variant Uncertain significance GRCh38 Chromosome 5, 141528717: 141528717
24 DIAPH1 NM_005219.4(DIAPH1): c.2877T> G (p.Ser959=) single nucleotide variant Likely benign GRCh37 Chromosome 5, 140908410: 140908410
25 DIAPH1 NM_005219.4(DIAPH1): c.2877T> G (p.Ser959=) single nucleotide variant Likely benign GRCh38 Chromosome 5, 141528843: 141528843
26 DIAPH1 NM_001079812.2(DIAPH1): c.1821_1826dup (p.Pro611_Leu612insProPro) duplication Benign/Likely benign rs761444075 GRCh37 Chromosome 5, 140953564: 140953569
27 DIAPH1 NM_001079812.2(DIAPH1): c.1821_1826dup (p.Pro611_Leu612insProPro) duplication Benign/Likely benign rs761444075 GRCh38 Chromosome 5, 141573997: 141574002
28 DIAPH1 NM_005219.4(DIAPH1): c.621-8A> G single nucleotide variant Likely benign GRCh37 Chromosome 5, 140961950: 140961950
29 DIAPH1 NM_005219.4(DIAPH1): c.621-8A> G single nucleotide variant Likely benign GRCh38 Chromosome 5, 141582383: 141582383
30 DIAPH1 NM_005219.4(DIAPH1): c.2886T> C (p.Ala962=) single nucleotide variant Likely benign rs750444501 GRCh38 Chromosome 5, 141528834: 141528834
31 DIAPH1 NM_005219.4(DIAPH1): c.2886T> C (p.Ala962=) single nucleotide variant Likely benign rs750444501 GRCh37 Chromosome 5, 140908401: 140908401
32 DIAPH1 NM_005219.4(DIAPH1): c.2778+10G> A single nucleotide variant Likely benign rs374601448 GRCh38 Chromosome 5, 141529162: 141529162
33 DIAPH1 NM_005219.4(DIAPH1): c.2778+10G> A single nucleotide variant Likely benign rs374601448 GRCh37 Chromosome 5, 140908729: 140908729
34 DIAPH1 NM_005219.4(DIAPH1): c.2009C> T (p.Pro670Leu) single nucleotide variant Uncertain significance rs751847293 GRCh37 Chromosome 5, 140953408: 140953408
35 DIAPH1 NM_005219.4(DIAPH1): c.2009C> T (p.Pro670Leu) single nucleotide variant Uncertain significance rs751847293 GRCh38 Chromosome 5, 141573841: 141573841
36 DIAPH1 NM_005219.4(DIAPH1): c.1659G> A (p.Lys553=) single nucleotide variant Benign rs200506473 GRCh38 Chromosome 5, 141574191: 141574191
37 DIAPH1 NM_005219.4(DIAPH1): c.1659G> A (p.Lys553=) single nucleotide variant Benign rs200506473 GRCh37 Chromosome 5, 140953758: 140953758
38 DIAPH1 NM_005219.4(DIAPH1): c.1964C> G (p.Pro655Arg) single nucleotide variant Benign rs367669306 GRCh37 Chromosome 5, 140953453: 140953453
39 DIAPH1 NM_005219.4(DIAPH1): c.1964C> G (p.Pro655Arg) single nucleotide variant Benign rs367669306 GRCh38 Chromosome 5, 141573886: 141573886
40 DIAPH1 NM_001079812.2(DIAPH1): c.1818_1826dup (p.Pro611_Leu612insProProPro) duplication Uncertain significance GRCh38 Chromosome 5, 141573997: 141574005
41 DIAPH1 NM_001079812.2(DIAPH1): c.1818_1826dup (p.Pro611_Leu612insProProPro) duplication Uncertain significance GRCh37 Chromosome 5, 140953564: 140953572
42 DIAPH1 NM_005219.4(DIAPH1): c.1002C> T (p.Ile334=) single nucleotide variant Likely benign rs748386464 GRCh37 Chromosome 5, 140958124: 140958124
43 DIAPH1 NM_005219.4(DIAPH1): c.1002C> T (p.Ile334=) single nucleotide variant Likely benign rs748386464 GRCh38 Chromosome 5, 141578557: 141578557
44 DIAPH1 NM_005219.4(DIAPH1): c.2099T> A (p.Ile700Asn) single nucleotide variant Uncertain significance rs199830182 GRCh38 Chromosome 5, 141573751: 141573751
45 DIAPH1 NM_005219.4(DIAPH1): c.2099T> A (p.Ile700Asn) single nucleotide variant Uncertain significance rs199830182 GRCh37 Chromosome 5, 140953318: 140953318
46 DIAPH1 NM_005219.4(DIAPH1): c.3313C> T (p.Arg1105Trp) single nucleotide variant Uncertain significance rs781577050 GRCh38 Chromosome 5, 141526422: 141526422
47 DIAPH1 NM_005219.4(DIAPH1): c.3313C> T (p.Arg1105Trp) single nucleotide variant Uncertain significance rs781577050 GRCh37 Chromosome 5, 140905989: 140905989
48 DIAPH1 NM_005219.4(DIAPH1): c.3624_3625delAG (p.Ala1210Serfs) deletion Pathogenic rs1064797096 GRCh37 Chromosome 5, 140903746: 140903747
49 DIAPH1 NM_005219.4(DIAPH1): c.3624_3625delAG (p.Ala1210Serfs) deletion Pathogenic rs1064797096 GRCh38 Chromosome 5, 141524179: 141524180
50 DIAPH1 NM_005219.4(DIAPH1): c.1848_1853delTCCTCC (p.Pro619_Pro620del) deletion Conflicting interpretations of pathogenicity rs760344729 GRCh38 Chromosome 5, 141573997: 141574002

Expression for Deafness, Autosomal Dominant 1

Search GEO for disease gene expression data for Deafness, Autosomal Dominant 1.

Pathways for Deafness, Autosomal Dominant 1

GO Terms for Deafness, Autosomal Dominant 1

Cellular components related to Deafness, Autosomal Dominant 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 myosin complex GO:0016459 8.96 MYO1A MYO3A
2 filamentous actin GO:0031941 8.62 MYO1A MYO3A

Biological processes related to Deafness, Autosomal Dominant 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 8.96 MYO3A WFS1
2 sensory perception of sound GO:0007605 8.92 DIAPH1 MYO1A MYO3A WFS1

Molecular functions related to Deafness, Autosomal Dominant 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 motor activity GO:0003774 9.16 MYO1A MYO3A
2 actin binding GO:0003779 9.13 DIAPH1 MYO1A MYO3A
3 calmodulin binding GO:0005516 8.8 MYO1A MYO3A WFS1

Sources for Deafness, Autosomal Dominant 1

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