DFNA1
MCID: DFN131
MIFTS: 34

Deafness, Autosomal Dominant 1 (DFNA1)

Categories: Genetic diseases, Ear diseases, Fetal diseases, Blood diseases, Rare diseases, Neuronal diseases, Cardiovascular 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:
Inheritance autosomal dominant inheritance
Onset and clinical course childhood onset


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 Cytoskeleton remodeling_RalA regulation 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 32 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 Recessive 105 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 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 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 30.5 DIAPH1 WFS1
2 nonsyndromic deafness 26.5 DIAPH1 MYO1A MYO3A OSBPL2 WFS1
3 deafness, conductive, with malformed external ear 11.2
4 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
5 deafness, autosomal dominant 67 9.9 DIAPH1 OSBPL2
6 deafness, autosomal dominant 48 9.6 MYO1A MYO3A
7 deafness, autosomal dominant 22 9.5 MYO1A MYO3A
8 deafness, autosomal recessive 37 9.5 MYO1A MYO3A
9 deafness, autosomal dominant 17 9.4 MYO1A MYO3A
10 deafness, autosomal recessive 30 9.3 MYO1A MYO3A
11 autosomal recessive nonsyndromic deafness 3 9.2 MYO1A MYO3A
12 autosomal dominant non-syndromic sensorineural deafness type dfna 8.9 MYO1A OSBPL2 WFS1
13 autosomal dominant nonsyndromic deafness 8.3 DIAPH1 MYO1A OSBPL2 WFS1

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 113)
# 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.891G> A (p.Pro297=) single nucleotide variant Benign rs116463365 GRCh37 Chromosome 5, 140958697: 140958697
3 DIAPH1 NM_005219.4(DIAPH1): c.891G> A (p.Pro297=) single nucleotide variant Benign rs116463365 GRCh38 Chromosome 5, 141579130: 141579130
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.3765G> A (p.Glu1255=) single nucleotide variant Benign/Likely benign rs35755269 GRCh38 Chromosome 5, 141516905: 141516905
6 DIAPH1 NM_005219.4(DIAPH1): c.2525A> C (p.Gln842Pro) single nucleotide variant Benign/Likely benign rs200220260 GRCh37 Chromosome 5, 140913958: 140913958
7 DIAPH1 NM_005219.4(DIAPH1): c.2525A> C (p.Gln842Pro) single nucleotide variant Benign/Likely benign rs200220260 GRCh38 Chromosome 5, 141534391: 141534391
8 DIAPH1 NM_005219.4(DIAPH1): c.1364G> A (p.Arg455Gln) single nucleotide variant Uncertain significance rs200004048 GRCh37 Chromosome 5, 140956355: 140956355
9 DIAPH1 NM_005219.4(DIAPH1): c.1364G> A (p.Arg455Gln) single nucleotide variant Uncertain significance rs200004048 GRCh38 Chromosome 5, 141576788: 141576788
10 DIAPH1 NM_005219.4(DIAPH1): c.390C> T (p.Tyr130=) single nucleotide variant Benign/Likely benign rs34296458 GRCh37 Chromosome 5, 140963703: 140963703
11 DIAPH1 NM_005219.4(DIAPH1): c.390C> T (p.Tyr130=) single nucleotide variant Benign/Likely benign rs34296458 GRCh38 Chromosome 5, 141584136: 141584136
12 DIAPH1 NM_005219.4(DIAPH1): c.1736G> A (p.Arg579His) single nucleotide variant Conflicting interpretations of pathogenicity rs182139018 GRCh37 Chromosome 5, 140953681: 140953681
13 DIAPH1 NM_005219.4(DIAPH1): c.1736G> A (p.Arg579His) single nucleotide variant Conflicting interpretations of pathogenicity rs182139018 GRCh38 Chromosome 5, 141574114: 141574114
14 DIAPH1 NM_005219.4(DIAPH1): c.3637C> T (p.Arg1213Ter) single nucleotide variant Uncertain significance rs876657776 GRCh38 Chromosome 5, 141524167: 141524167
15 DIAPH1 NM_005219.4(DIAPH1): c.3637C> T (p.Arg1213Ter) single nucleotide variant Uncertain significance rs876657776 GRCh37 Chromosome 5, 140903734: 140903734
16 DIAPH1 NM_005219.4(DIAPH1): c.3227T> G (p.Phe1076Cys) single nucleotide variant Benign/Likely benign rs143763573 GRCh38 Chromosome 5, 141527619: 141527619
17 DIAPH1 NM_005219.4(DIAPH1): c.3227T> G (p.Phe1076Cys) single nucleotide variant Benign/Likely benign rs143763573 GRCh37 Chromosome 5, 140907186: 140907186
18 DIAPH1 NM_005219.4(DIAPH1): c.2889A> G (p.Ala963=) single nucleotide variant Likely benign rs770304914 GRCh38 Chromosome 5, 141528831: 141528831
19 DIAPH1 NM_005219.4(DIAPH1): c.2889A> G (p.Ala963=) single nucleotide variant Likely benign rs770304914 GRCh37 Chromosome 5, 140908398: 140908398
20 DIAPH1 NM_005219.4(DIAPH1): c.1851_1853delTCC (p.Pro620del) deletion Benign rs767100040 GRCh38 Chromosome 5, 141573997: 141573999
21 DIAPH1 NM_005219.4(DIAPH1): c.1851_1853delTCC (p.Pro620del) deletion Benign rs767100040 GRCh37 Chromosome 5, 140953564: 140953566
22 DIAPH1 NM_005219.4(DIAPH1): c.1851_1853dupTCC (p.Pro620_Leu621insPro) duplication Benign/Likely benign rs761444075 GRCh37 Chromosome 5, 140953564: 140953566
23 DIAPH1 NM_005219.4(DIAPH1): c.1851_1853dupTCC (p.Pro620_Leu621insPro) duplication Benign/Likely benign rs761444075 GRCh38 Chromosome 5, 141573997: 141573999
24 DIAPH1 NM_005219.4(DIAPH1): c.685-5A> G single nucleotide variant Conflicting interpretations of pathogenicity rs367786290 GRCh38 Chromosome 5, 141580888: 141580888
25 DIAPH1 NM_005219.4(DIAPH1): c.685-5A> G single nucleotide variant Conflicting interpretations of pathogenicity rs367786290 GRCh37 Chromosome 5, 140960455: 140960455
26 DIAPH1 NM_005219.4(DIAPH1): c.1407T> C (p.Ile469=) single nucleotide variant Benign/Likely benign rs75860159 GRCh37 Chromosome 5, 140955851: 140955851
27 DIAPH1 NM_005219.4(DIAPH1): c.1407T> C (p.Ile469=) single nucleotide variant Benign/Likely benign rs75860159 GRCh38 Chromosome 5, 141576284: 141576284
28 DIAPH1 NM_005219.4(DIAPH1): c.627C> T (p.Tyr209=) single nucleotide variant Conflicting interpretations of pathogenicity rs369494682 GRCh37 Chromosome 5, 140961936: 140961936
29 DIAPH1 NM_005219.4(DIAPH1): c.627C> T (p.Tyr209=) single nucleotide variant Conflicting interpretations of pathogenicity rs369494682 GRCh38 Chromosome 5, 141582369: 141582369
30 DIAPH1 NM_005219.4(DIAPH1): c.1964C> A (p.Pro655His) single nucleotide variant Uncertain significance rs367669306 GRCh37 Chromosome 5, 140953453: 140953453
31 DIAPH1 NM_005219.4(DIAPH1): c.1964C> A (p.Pro655His) single nucleotide variant Uncertain significance rs367669306 GRCh38 Chromosome 5, 141573886: 141573886
32 DIAPH1 NM_005219.4(DIAPH1): c.1848_1853delTCCTCC (p.Pro619_Pro620del) deletion Conflicting interpretations of pathogenicity rs760344729 GRCh37 Chromosome 5, 140953564: 140953569
33 DIAPH1 NM_005219.4(DIAPH1): c.1848_1853delTCCTCC (p.Pro619_Pro620del) deletion Conflicting interpretations of pathogenicity rs760344729 GRCh38 Chromosome 5, 141573997: 141574002
34 DIAPH1 NM_005219.4(DIAPH1): c.2162C> A (p.Pro721His) single nucleotide variant Uncertain significance rs373520931 GRCh37 Chromosome 5, 140953255: 140953255
35 DIAPH1 NM_005219.4(DIAPH1): c.2162C> A (p.Pro721His) single nucleotide variant Uncertain significance rs373520931 GRCh38 Chromosome 5, 141573688: 141573688
36 DIAPH1 NM_005219.4(DIAPH1): c.2032C> T (p.Pro678Ser) single nucleotide variant Benign/Likely benign rs186370335 GRCh37 Chromosome 5, 140953385: 140953385
37 DIAPH1 NM_005219.4(DIAPH1): c.2032C> T (p.Pro678Ser) single nucleotide variant Benign/Likely benign rs186370335 GRCh38 Chromosome 5, 141573818: 141573818
38 DIAPH1 NM_005219.4(DIAPH1): c.1423G> A (p.Glu475Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs193036129 GRCh37 Chromosome 5, 140955835: 140955835
39 DIAPH1 NM_005219.4(DIAPH1): c.1423G> A (p.Glu475Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs193036129 GRCh38 Chromosome 5, 141576268: 141576268
40 DIAPH1 NM_005219.4(DIAPH1): c.3624_3625delAG (p.Ala1210Serfs) deletion Pathogenic rs1064797096 GRCh38 Chromosome 5, 141524179: 141524180
41 DIAPH1 NM_005219.4(DIAPH1): c.3624_3625delAG (p.Ala1210Serfs) deletion Pathogenic rs1064797096 GRCh37 Chromosome 5, 140903746: 140903747
42 DIAPH1 NM_005219.4(DIAPH1): c.3313C> T (p.Arg1105Trp) single nucleotide variant Uncertain significance rs781577050 GRCh37 Chromosome 5, 140905989: 140905989
43 DIAPH1 NM_005219.4(DIAPH1): c.3313C> T (p.Arg1105Trp) single nucleotide variant Uncertain significance rs781577050 GRCh38 Chromosome 5, 141526422: 141526422
44 DIAPH1 NM_005219.4(DIAPH1): c.2158C> T (p.Leu720Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs200606811 GRCh37 Chromosome 5, 140953259: 140953259
45 DIAPH1 NM_005219.4(DIAPH1): c.2158C> T (p.Leu720Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs200606811 GRCh38 Chromosome 5, 141573692: 141573692
46 DIAPH1 NM_005219.4(DIAPH1): c.2099T> A (p.Ile700Asn) single nucleotide variant Uncertain significance rs199830182 GRCh38 Chromosome 5, 141573751: 141573751
47 DIAPH1 NM_005219.4(DIAPH1): c.2099T> A (p.Ile700Asn) single nucleotide variant Uncertain significance rs199830182 GRCh37 Chromosome 5, 140953318: 140953318
48 DIAPH1 NM_005219.4(DIAPH1): c.1985G> A (p.Gly662Asp) single nucleotide variant Benign rs200735096 GRCh37 Chromosome 5, 140953432: 140953432
49 DIAPH1 NM_005219.4(DIAPH1): c.1985G> A (p.Gly662Asp) single nucleotide variant Benign rs200735096 GRCh38 Chromosome 5, 141573865: 141573865
50 DIAPH1 NM_005219.4(DIAPH1): c.1269C> G (p.Asp423Glu) single nucleotide variant Uncertain significance rs367981585 GRCh38 Chromosome 5, 141577486: 141577486

Expression for Deafness, Autosomal Dominant 1

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

Pathways for Deafness, Autosomal Dominant 1

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.63 DIAPH1 MYO1A MYO3A
2 10.5 MYO1A MYO3A

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 9.16 MYO3A WFS1
2 microtubule-based movement GO:0007018 8.96 MYO1A MYO3A
3 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 microtubule motor activity GO:0003777 9.26 MYO1A MYO3A
2 motor activity GO:0003774 9.16 MYO1A MYO3A
3 actin binding GO:0003779 9.13 DIAPH1 MYO1A MYO3A
4 calmodulin binding GO:0005516 8.8 MYO1A MYO3A WFS1

Sources for Deafness, Autosomal Dominant 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
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44 MeSH
45 MESH via Orphanet
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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