DFNA1
MCID: DFN131
MIFTS: 37

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 58 30 13 6 74
Konigsmark Syndrome 58 12 76
Dfna1 58 12 76
Deafness, Autosomal Dominant 1, with or Without Thrombocytopenia 58 76
Autosomal Dominant Nonsyndromic Deafness 1 12 15
Lfhl1 12 76
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome 60
Diaph1-Related Sensorineural Deafness-Thrombocytopenia Syndrome 60
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 1 76
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 1 76
Hereditary Low-Frequency Sensorineural Hearing Loss 76
Hereditary Low Frequency Hearing Loss 1 12
Hereditary Low-Frequency Hearing Loss 76
Deafness, Autosomal Dominant, 1 76
Autosomal Dominant Deafness 1 12
Lfsnhl1 76

Characteristics:

OMIM:

58
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:

33
deafness, autosomal dominant 1:
Onset and clinical course childhood onset
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110541
OMIM 58 124900
MeSH 45 D006319
ICD10 34 H90.3
Orphanet 60 ORPHA494444
MedGen 43 C1852282
UMLS 74 C1852282

Summaries for Deafness, Autosomal Dominant 1

UniProtKB/Swiss-Prot : 76 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 thrombocytopenia and sensorineural hearing impairment

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 : 58 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
Deafness, Autosomal Recessive 112 Deafness, Autosomal Recessive 113
Deafness, Autosomal Recessive 100 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 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 12)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal dominant 6 31.7 DIAPH1 WFS1
2 nonsyndromic deafness 28.5 DIAPH1 MYO1A MYO3A OSBPL2 WFS1
3 deafness, conductive, with malformed external ear 11.4
4 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
5 deafness, autosomal dominant 67 9.9 DIAPH1 OSBPL2
6 deafness, autosomal dominant 48 9.8 MYO1A MYO3A
7 deafness, autosomal dominant 22 9.8 MYO1A MYO3A
8 deafness, autosomal recessive 37 9.7 MYO1A MYO3A
9 sensorineural hearing loss 9.7 DIAPH1 WFS1
10 deafness, autosomal dominant 17 9.7 MYO1A MYO3A
11 deafness, autosomal recessive 30 9.7 MYO1A MYO3A
12 autosomal recessive nonsyndromic deafness 3 9.6 MYO1A MYO3A

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

Human phenotypes related to Deafness, Autosomal Dominant 1:

33
# Description HPO Frequency HPO Source Accession
1 thrombocytopenia 33 occasional (7.5%) HP:0001873
2 sensorineural hearing impairment 33 HP:0000407
3 progressive hearing impairment 33 HP:0001730
4 low-frequency hearing loss 33 HP:0008542

Symptoms via clinical synopsis from OMIM:

58
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

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

27 (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 30 DIAPH1

Anatomical Context for Deafness, Autosomal Dominant 1

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

42
Brain

Publications for Deafness, Autosomal Dominant 1

Articles related to Deafness, Autosomal Dominant 1:

# Title Authors Year
1
Extension of the clinical and molecular phenotype of DIAPH1-associated autosomal dominant hearing loss (DFNA1). ( 27808407 )
2017
2
A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss. ( 26912466 )
2016
3
Auditory phenotype of DFNA1. ( 12408060 )
2002
4
Non-syndromic dominant DFNA1. ( 10868215 )
2000
5
Further characterization of the DFNA1 audiovestibular phenotype. ( 9639482 )
1998
6
Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous. ( 9360932 )
1997

Variations for Deafness, Autosomal Dominant 1

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

76
# 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 151)
# Gene Variation Type Significance SNP ID Assembly Location
1 DIAPH1 NM_005219.4(DIAPH1): c.3579C> T (p.Gly1193=) single nucleotide variant Benign/Likely benign rs2302102 GRCh37 Chromosome 5, 140903792: 140903792
2 DIAPH1 NM_005219.4(DIAPH1): c.3579C> T (p.Gly1193=) single nucleotide variant Benign/Likely benign rs2302102 GRCh38 Chromosome 5, 141524225: 141524225
3 DIAPH1 NM_005219.4(DIAPH1): c.3765G> A (p.Glu1255=) single nucleotide variant Benign/Likely benign rs35755269 GRCh38 Chromosome 5, 141516905: 141516905
4 DIAPH1 NM_005219.4(DIAPH1): c.3765G> A (p.Glu1255=) single nucleotide variant Benign/Likely benign rs35755269 GRCh37 Chromosome 5, 140896472: 140896472
5 DIAPH1 NM_005219.4(DIAPH1): c.3050T> C (p.Met1017Thr) single nucleotide variant Uncertain significance rs376220834 GRCh38 Chromosome 5, 141528551: 141528551
6 DIAPH1 NM_005219.4(DIAPH1): c.3050T> C (p.Met1017Thr) single nucleotide variant Uncertain significance rs376220834 GRCh37 Chromosome 5, 140908118: 140908118
7 DIAPH1 NM_005219.4(DIAPH1): c.2525A> C (p.Gln842Pro) single nucleotide variant Benign/Likely benign rs200220260 GRCh37 Chromosome 5, 140913958: 140913958
8 DIAPH1 NM_005219.4(DIAPH1): c.2525A> C (p.Gln842Pro) single nucleotide variant Benign/Likely benign rs200220260 GRCh38 Chromosome 5, 141534391: 141534391
9 DIAPH1 NM_005219.4(DIAPH1): c.1364G> A (p.Arg455Gln) single nucleotide variant Uncertain significance rs200004048 GRCh37 Chromosome 5, 140956355: 140956355
10 DIAPH1 NM_005219.4(DIAPH1): c.1364G> A (p.Arg455Gln) single nucleotide variant Uncertain significance rs200004048 GRCh38 Chromosome 5, 141576788: 141576788
11 DIAPH1 NM_005219.4(DIAPH1): c.390C> T (p.Tyr130=) single nucleotide variant Benign/Likely benign rs34296458 GRCh37 Chromosome 5, 140963703: 140963703
12 DIAPH1 NM_005219.4(DIAPH1): c.390C> T (p.Tyr130=) single nucleotide variant Benign/Likely benign rs34296458 GRCh38 Chromosome 5, 141584136: 141584136
13 DIAPH1 NM_005219.4(DIAPH1): c.1736G> A (p.Arg579His) single nucleotide variant Conflicting interpretations of pathogenicity rs182139018 GRCh37 Chromosome 5, 140953681: 140953681
14 DIAPH1 NM_005219.4(DIAPH1): c.1736G> A (p.Arg579His) single nucleotide variant Conflicting interpretations of pathogenicity rs182139018 GRCh38 Chromosome 5, 141574114: 141574114
15 DIAPH1 NM_005219.4(DIAPH1): c.1407T> C (p.Ile469=) single nucleotide variant Benign/Likely benign rs75860159 GRCh37 Chromosome 5, 140955851: 140955851
16 DIAPH1 NM_005219.4(DIAPH1): c.1407T> C (p.Ile469=) single nucleotide variant Benign/Likely benign rs75860159 GRCh38 Chromosome 5, 141576284: 141576284
17 DIAPH1 NM_005219.4(DIAPH1): c.2162C> A (p.Pro721His) single nucleotide variant Uncertain significance rs373520931 GRCh38 Chromosome 5, 141573688: 141573688
18 DIAPH1 NM_005219.4(DIAPH1): c.2162C> A (p.Pro721His) single nucleotide variant Uncertain significance rs373520931 GRCh37 Chromosome 5, 140953255: 140953255
19 DIAPH1 NM_005219.4(DIAPH1): c.2032C> T (p.Pro678Ser) single nucleotide variant Benign/Likely benign rs186370335 GRCh38 Chromosome 5, 141573818: 141573818
20 DIAPH1 NM_005219.4(DIAPH1): c.2032C> T (p.Pro678Ser) single nucleotide variant Benign/Likely benign rs186370335 GRCh37 Chromosome 5, 140953385: 140953385
21 DIAPH1 NM_005219.4(DIAPH1): c.1423G> A (p.Glu475Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs193036129 GRCh38 Chromosome 5, 141576268: 141576268
22 DIAPH1 NM_005219.4(DIAPH1): c.1423G> A (p.Glu475Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs193036129 GRCh37 Chromosome 5, 140955835: 140955835
23 DIAPH1 NM_005219.4(DIAPH1): c.2158C> T (p.Leu720Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs200606811 GRCh37 Chromosome 5, 140953259: 140953259
24 DIAPH1 NM_005219.4(DIAPH1): c.2158C> T (p.Leu720Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs200606811 GRCh38 Chromosome 5, 141573692: 141573692
25 DIAPH1 NM_005219.4(DIAPH1): c.1269C> G (p.Asp423Glu) single nucleotide variant Uncertain significance rs367981585 GRCh38 Chromosome 5, 141577486: 141577486
26 DIAPH1 NM_005219.4(DIAPH1): c.1269C> G (p.Asp423Glu) single nucleotide variant Uncertain significance rs367981585 GRCh37 Chromosome 5, 140957053: 140957053
27 DIAPH1 NM_005219.4(DIAPH1): c.3675C> T (p.Ala1225=) single nucleotide variant Likely benign rs371385202 GRCh37 Chromosome 5, 140896562: 140896562
28 DIAPH1 NM_005219.4(DIAPH1): c.3675C> T (p.Ala1225=) single nucleotide variant Likely benign rs371385202 GRCh38 Chromosome 5, 141516995: 141516995
29 DIAPH1 NM_005219.4(DIAPH1): c.3358G> A (p.Glu1120Lys) single nucleotide variant Uncertain significance rs756003432 GRCh38 Chromosome 5, 141526377: 141526377
30 DIAPH1 NM_005219.4(DIAPH1): c.3358G> A (p.Glu1120Lys) single nucleotide variant Uncertain significance rs756003432 GRCh37 Chromosome 5, 140905944: 140905944
31 DIAPH1 NM_005219.4(DIAPH1): c.118-9G> A single nucleotide variant Likely benign rs1346309649 GRCh38 Chromosome 5, 141588259: 141588259
32 DIAPH1 NM_005219.4(DIAPH1): c.118-9G> A single nucleotide variant Likely benign rs1346309649 GRCh37 Chromosome 5, 140967826: 140967826
33 DIAPH1 NM_005219.4(DIAPH1): c.3701C> T (p.Ala1234Val) single nucleotide variant Uncertain significance rs764739820 GRCh37 Chromosome 5, 140896536: 140896536
34 DIAPH1 NM_005219.4(DIAPH1): c.3701C> T (p.Ala1234Val) single nucleotide variant Uncertain significance rs764739820 GRCh38 Chromosome 5, 141516969: 141516969
35 DIAPH1 NM_005219.4(DIAPH1): c.3439-3delC deletion Likely benign rs1335130331 GRCh37 Chromosome 5, 140905743: 140905743
36 DIAPH1 NM_005219.4(DIAPH1): c.3439-3delC deletion Likely benign rs1335130331 GRCh38 Chromosome 5, 141526176: 141526176
37 DIAPH1 NM_005219.4(DIAPH1): c.3003C> G (p.Ile1001Met) single nucleotide variant Uncertain significance rs1554201371 GRCh38 Chromosome 5, 141528717: 141528717
38 DIAPH1 NM_005219.4(DIAPH1): c.3003C> G (p.Ile1001Met) single nucleotide variant Uncertain significance rs1554201371 GRCh37 Chromosome 5, 140908284: 140908284
39 DIAPH1 NM_005219.4(DIAPH1): c.2877T> G (p.Ser959=) single nucleotide variant Likely benign rs1554201404 GRCh37 Chromosome 5, 140908410: 140908410
40 DIAPH1 NM_005219.4(DIAPH1): c.2877T> G (p.Ser959=) single nucleotide variant Likely benign rs1554201404 GRCh38 Chromosome 5, 141528843: 141528843
41 DIAPH1 NM_005219.4(DIAPH1): c.2886T> C (p.Ala962=) single nucleotide variant Likely benign rs750444501 GRCh38 Chromosome 5, 141528834: 141528834
42 DIAPH1 NM_005219.4(DIAPH1): c.2886T> C (p.Ala962=) single nucleotide variant Likely benign rs750444501 GRCh37 Chromosome 5, 140908401: 140908401
43 DIAPH1 NM_005219.4(DIAPH1): c.2778+10G> A single nucleotide variant Likely benign rs374601448 GRCh38 Chromosome 5, 141529162: 141529162
44 DIAPH1 NM_005219.4(DIAPH1): c.2778+10G> A single nucleotide variant Likely benign rs374601448 GRCh37 Chromosome 5, 140908729: 140908729
45 DIAPH1 NM_005219.4(DIAPH1): c.1964C> G (p.Pro655Arg) single nucleotide variant Benign rs367669306 GRCh37 Chromosome 5, 140953453: 140953453
46 DIAPH1 NM_005219.4(DIAPH1): c.1964C> G (p.Pro655Arg) single nucleotide variant Benign rs367669306 GRCh38 Chromosome 5, 141573886: 141573886
47 DIAPH1 NM_001079812.2(DIAPH1): c.1818_1826dup (p.Pro611_Leu612insProProPro) duplication Uncertain significance rs3075570 GRCh38 Chromosome 5, 141573997: 141574005
48 DIAPH1 NM_001079812.2(DIAPH1): c.1818_1826dup (p.Pro611_Leu612insProProPro) duplication Uncertain significance rs3075570 GRCh37 Chromosome 5, 140953564: 140953572
49 DIAPH1 NM_005219.4(DIAPH1): c.1002C> T (p.Ile334=) single nucleotide variant Likely benign rs748386464 GRCh38 Chromosome 5, 141578557: 141578557
50 DIAPH1 NM_005219.4(DIAPH1): c.1002C> T (p.Ile334=) single nucleotide variant Likely benign rs748386464 GRCh37 Chromosome 5, 140958124: 140958124

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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