DFNA1
MCID: DFN384
MIFTS: 44

Deafness, Autosomal Dominant 1, with or Without Thrombocytopenia (DFNA1)

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

Aliases & Classifications for Deafness, Autosomal Dominant 1, with or Without Thrombocytopenia

MalaCards integrated aliases for Deafness, Autosomal Dominant 1, with or Without Thrombocytopenia:

Name: Deafness, Autosomal Dominant 1, with or Without Thrombocytopenia 57 73
Deafness, Autosomal Dominant 1 29 13 6
Konigsmark Syndrome 57 12 73
Dfna1 57 12 73
Autosomal Dominant Nonsyndromic Deafness 1 12 15
Lfhl1 12 73
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome 58
Autosomal Dominant Deafness 1, with or Without Thrombocytopenia 12
Diaph1-Related Sensorineural Deafness-Thrombocytopenia Syndrome 58
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 1 73
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 1 73
Hereditary Low-Frequency Sensorineural Hearing Loss 73
Hereditary Low Frequency Hearing Loss 1 12
Hereditary Low-Frequency Hearing Loss 73
Autosomal Dominant Deafness 1 12
Lfsnhl1 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
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:

31
deafness, autosomal dominant 1, with or without thrombocytopenia:
Inheritance autosomal dominant inheritance
Onset and clinical course childhood onset


Classifications:

Orphanet: 58  
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:0110541
OMIM® 57 124900
OMIM Phenotypic Series 57 PS124900
MeSH 44 D006319
ICD10 32 H90.3
Orphanet 58 ORPHA494444
MedGen 41 C1852282

Summaries for Deafness, Autosomal Dominant 1, with or Without Thrombocytopenia

UniProtKB/Swiss-Prot : 73 Deafness, autosomal dominant 1, with or without thrombocytopenia: 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, with or Without Thrombocytopenia, also known as deafness, autosomal dominant 1, is related to deafness, autosomal dominant 6 and nonsyndromic deafness. An important gene associated with Deafness, Autosomal Dominant 1, with or Without Thrombocytopenia is DIAPH1 (Diaphanous Related Formin 1), and among its related pathways/superpathways are PAK Pathway and Actin Nucleation by ARP-WASP Complex. 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® : 57 DFNA1 is an autosomal dominant form of progressive hearing loss with onset in the first decade. Some patients have mild thrombocytopenia and enlarged platelets, although most of these individuals do not have significant bleeding tendencies (summary by Neuhaus et al., 2017). (124900) (Updated 05-Mar-2021)

Related Diseases for Deafness, Autosomal Dominant 1, with or Without Thrombocytopenia

Diseases related to Deafness, Autosomal Dominant 1, with or Without Thrombocytopenia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 87)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal dominant 6 30.9 WFS1 TECTA MYO7A MYO15A GJB2 DIAPH1
2 nonsyndromic deafness 30.3 WFS1 GJB2
3 branchiootic syndrome 1 30.0 PTPRQ MYO7A GJB2
4 nonsyndromic hearing loss 29.4 WFS1 TRIOBP TECTA MYO7A MYO3A MYO15A
5 autosomal dominant non-syndromic sensorineural deafness type dfna 29.0 WFS1 TECTA PTPRQ MYO7A MYH14 GJB2
6 deafness, conductive, with malformed external ear 11.3
7 deafness, autosomal recessive 83 10.3 MYO7A MYO15A
8 cryptophthalmos, unilateral or bilateral, isolated 10.2 FMN1 DIAPH3
9 usher syndrome, type iid 10.2 MYO7A MYO15A
10 labyrinthitis 10.2 MYO7A GJB2
11 deafness, autosomal dominant 67 10.2 GJB2 DIAPH1
12 dfnb1 10.2 MYO7A GJB2
13 deafness, autosomal recessive 63 10.2 MYO7A MYO15A
14 drug-induced hearing loss 10.2 MYO7A GJB2
15 myh-9 related disease 10.2 MYO7A MYH14
16 deafness, autosomal recessive 8 10.2 MYO15A GJB2
17 deafness, autosomal recessive 23 10.2 MYO7A MYO15A
18 deafness, autosomal recessive 18a 10.2 WFS1 MYO7A MYO15A
19 usher syndrome, type if 10.2 MYO7A MYO15A
20 deafness, autosomal recessive 42 10.2 TECTA PTPRQ
21 usher syndrome, type ic 10.1 MYO7A GJB2
22 deafness, autosomal dominant 21 10.1 TECTA MYH14
23 deafness, autosomal recessive 49 10.1 MYO15A GJB2
24 deafness, autosomal dominant 9 10.1 WFS1 MYO7A GJB2
25 deafness, autosomal recessive 26 10.1 TECTA GJB2
26 deafness, autosomal dominant 54 10.1 WFS1 MYH14 DIAPH1
27 deafness, autosomal recessive 3 10.1 MYO7A MYO15A GJB2
28 deafness, autosomal dominant 64 10.1 MYH14 GJB2
29 deafness, autosomal recessive 84a 10.1 PTPRR PTPRQ
30 deafness, autosomal recessive 7 10.1 MYO7A MYO15A GJB2
31 deafness, autosomal recessive 25 10.1 TRIOBP MYO15A
32 deafness, autosomal recessive 93 10.1 TRIOBP GJB2
33 deafness, autosomal recessive 29 10.1 TECTA GJB2
34 vestibular disease 10.1 MYO7A MYO15A GJB2
35 deafness, autosomal dominant 3b 10.1 TPRN GJB2
36 deafness, autosomal dominant 36 10.1 MYO15A GJB2
37 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
38 pendred syndrome 10.1 MYO7A MYO15A GJB2
39 deafness, autosomal dominant 2b 10.1 TRIOBP GJB2
40 peripheral vertigo 10.0 MYO7A GJB2
41 deafness, autosomal recessive 91 10.0 TPRN GJB2
42 waardenburg syndrome, type 1 10.0 WFS1 GJB2
43 deafness, x-linked 3 10.0 TRIOBP TPRN
44 deafness, autosomal recessive 21 10.0 TECTA MYO15A GJB2
45 auditory neuropathy, autosomal dominant, 1 10.0 GJB2 FMN1 DIAPH3 DIAPH1
46 meniere disease 10.0 MYO7A GJB2
47 deafness, autosomal recessive 1a 10.0 TRIOBP MYO7A GJB2
48 dyschromatosis universalis hereditaria 10.0 PTPRR PTPRQ
49 inner ear disease 9.9 WFS1 MYO7A MYO15A GJB2
50 deafness, autosomal recessive 39 9.9 TRIOBP PTPRQ GJB2

Graphical network of the top 20 diseases related to Deafness, Autosomal Dominant 1, with or Without Thrombocytopenia:



Diseases related to Deafness, Autosomal Dominant 1, with or Without Thrombocytopenia

Symptoms & Phenotypes for Deafness, Autosomal Dominant 1, with or Without Thrombocytopenia

Human phenotypes related to Deafness, Autosomal Dominant 1, with or Without Thrombocytopenia:

31
# Description HPO Frequency HPO Source Accession
1 thrombocytopenia 31 occasional (7.5%) HP:0001873
2 sensorineural hearing impairment 31 HP:0000407
3 progressive hearing impairment 31 HP:0001730
4 low-frequency hearing loss 31 HP:0008542

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Deafness, Autosomal Dominant 1, with or Without Thrombocytopenia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.76 GJB2 MYO15A MYO3A MYO7A PTPRQ TECTA
2 nervous system MP:0003631 9.73 DIAPH1 DIAPH3 GJB2 MYH14 MYO15A MYO3A
3 no phenotypic analysis MP:0003012 9.17 DIAPH1 DIAPH3 FMN1 GJB2 MYH14 MYO7A

Drugs & Therapeutics for Deafness, Autosomal Dominant 1, with or Without Thrombocytopenia

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Dominant 1, with or Without Thrombocytopenia

Genetic Tests for Deafness, Autosomal Dominant 1, with or Without Thrombocytopenia

Genetic tests related to Deafness, Autosomal Dominant 1, with or Without Thrombocytopenia:

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

Anatomical Context for Deafness, Autosomal Dominant 1, with or Without Thrombocytopenia

Publications for Deafness, Autosomal Dominant 1, with or Without Thrombocytopenia

Articles related to Deafness, Autosomal Dominant 1, with or Without Thrombocytopenia:

(show all 30)
# Title Authors PMID Year
1
Extension of the clinical and molecular phenotype of DIAPH1-associated autosomal dominant hearing loss (DFNA1). 6 57 61
27808407 2017
2
Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous. 61 6 57
9360932 1997
3
Progressive macrothrombocytopenia and hearing loss in a large family with DIAPH1 related disease. 57 6
28815995 2017
4
A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss. 57 6
26912466 2016
5
Management of pregnancy for a patient with the new syndromic macrothrombocytopenia, DIAPH1-related disease. 57
29985732 2018
6
Genetic causes of hearing loss. 57
10760311 2000
7
The gene for an inherited form of deafness maps to chromosome 5q31. 57
1350680 1992
8
Inherited low-frequency hearing loss. A new mixed conductive/sensorineural entity? 57
6719015 1984
9
Low frequency hereditary deafness in man with childhood onset. 57
7211837 1981
10
Familial low frequency hearing loss. 57
5157378 1971
11
The integrity of cochlear hair cells is established and maintained through the localization of Dia1 at apical junctional complexes and stereocilia. 61
32678080 2020
12
A novel variant in diaphanous homolog 1 (DIAPH1) as the cause of auditory neuropathy in a Chinese family. 61
32087478 2020
13
Amino acid 118 in the Deafness Causing (DFNA20/26) ACTG1 gene is a Mutational Hot Spot. 61
30599039 2018
14
A novel missense variant in the DIAPH1 gene in a Korean family with autosomal dominant nonsyndromic hearing loss. 61
28003573 2017
15
Constitutive activation of DIA1 (DIAPH1) via C-terminal truncation causes human sensorineural hearing loss. 61
27707755 2016
16
OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67). 61
25759012 2015
17
Unique transgenic animal model for hereditary hearing loss. 61
19102128 2008
18
A novel nonsense mutation in MYO6 is associated with progressive nonsyndromic hearing loss in a Danish DFNA22 family. 61
18348273 2008
19
Phenotypic characterization of a DFNA6 family showing progressive low-frequency sensorineural hearing impairment. 61
16043233 2006
20
DFNA54, a third locus for low-frequency hearing loss. 61
15490091 2004
21
[Phenotypic characterization of a DFNA6 family with low-frequency hearing loss]. 61
14968315 2004
22
Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations. 61
12073007 2002
23
Confirmation of genetic homogeneity of nonsyndromic low-frequency sensorineural hearing loss by linkage analysis and a DFNA6/14 mutation in a Japanese family. 61
12181639 2002
24
Hereditary deafness and phenotyping in humans. 61
12324385 2002
25
Auditory phenotype of DFNA1. 61
12408060 2002
26
Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss. 61
11709537 2001
27
Further evidence for linkage of low-mid frequency hearing impairment to the candidate region on chromosome 4p16.3. 61
11553051 2001
28
Non-syndromic dominant DFNA1. 61
10868215 2000
29
Non-syndromal autosomal dominant hearing impairment: ongoing phenotypical characterization of genotypes. 61
10890148 1999
30
Further characterization of the DFNA1 audiovestibular phenotype. 61
9639482 1998

Variations for Deafness, Autosomal Dominant 1, with or Without Thrombocytopenia

ClinVar genetic disease variations for Deafness, Autosomal Dominant 1, with or Without Thrombocytopenia:

6 (show top 50) (show all 288)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DIAPH1 NM_005219.5(DIAPH1):c.3661+1G>T SNV Pathogenic 7528 rs1476157529 5:140903709-140903709 5:141524142-141524142
2 DIAPH1 NM_005219.5(DIAPH1):c.3637C>T (p.Arg1213Ter) SNV Pathogenic 228577 rs876657776 5:140903734-140903734 5:141524167-141524167
3 DIAPH1 NM_005219.5(DIAPH1):c.3624_3625del (p.Ala1210fs) Deletion Pathogenic 424874 rs1064797096 5:140903746-140903747 5:141524179-141524180
4 DIAPH1 NM_005219.5(DIAPH1):c.1549C>T (p.Gln517Ter) SNV Pathogenic 839955 5:140954626-140954626 5:141575059-141575059
5 DIAPH1 NC_000005.10:g.(?_141516831)_(141618934_?)del Deletion Pathogenic 831117 5:140896398-140998501
6 DIAPH1 NM_005219.5(DIAPH1):c.2540_2541del (p.Lys847fs) Deletion Pathogenic 946228 5:140913942-140913943 5:141534375-141534376
7 DIAPH1 NM_005219.5(DIAPH1):c.2945T>G (p.Leu982Arg) SNV Likely pathogenic 828149 rs1596339533 5:140908342-140908342 5:141528775-141528775
8 DIAPH1 NM_005219.5(DIAPH1):c.2401G>C (p.Val801Leu) SNV Uncertain significance 835713 5:140951565-140951565 5:141571998-141571998
9 DIAPH1 NM_005219.5(DIAPH1):c.2108C>G (p.Pro703Arg) SNV Uncertain significance 836519 5:140953309-140953309 5:141573742-141573742
10 DIAPH1 NM_005219.5(DIAPH1):c.2107C>T (p.Pro703Ser) SNV Uncertain significance 548628 rs201433617 5:140953310-140953310 5:141573743-141573743
11 DIAPH1 NM_005219.5(DIAPH1):c.1848_1862del (p.Pro618_Pro622del) Deletion Uncertain significance 566485 rs1562320961 5:140953555-140953569 5:141573988-141574002
12 DIAPH1 NM_005219.5(DIAPH1):c.724C>G (p.Leu242Val) SNV Uncertain significance 568520 rs766359994 5:140960411-140960411 5:141580844-141580844
13 DIAPH1 NM_005219.5(DIAPH1):c.3003C>G (p.Ile1001Met) SNV Uncertain significance 475705 rs1554201371 5:140908284-140908284 5:141528717-141528717
14 DIAPH1 NM_005219.5(DIAPH1):c.3157G>T (p.Glu1053Ter) SNV Uncertain significance 802160 rs1003389476 5:140907256-140907256 5:141527689-141527689
15 DIAPH1 NM_005219.5(DIAPH1):c.1821_1823TCC[15] (p.Pro617_Pro620dup) Microsatellite Uncertain significance 840731 5:140953563-140953564 5:141573996-141573997
16 DIAPH1 NM_005219.5(DIAPH1):c.3574+6G>C SNV Uncertain significance 517343 rs538555634 5:140905599-140905599 5:141526032-141526032
17 DIAPH1 NM_005219.5(DIAPH1):c.2071C>T (p.Pro691Ser) SNV Uncertain significance 842455 5:140953346-140953346 5:141573779-141573779
18 DIAPH1 NM_005219.5(DIAPH1):c.1963C>G (p.Pro655Ala) SNV Uncertain significance 844136 5:140953454-140953454 5:141573887-141573887
19 DIAPH1 NM_005219.5(DIAPH1):c.1073T>C (p.Met358Thr) SNV Uncertain significance 846993 5:140957882-140957882 5:141578315-141578315
20 DIAPH1 NM_005219.5(DIAPH1):c.2597C>T (p.Ser866Phe) SNV Uncertain significance 70197 5:140909249-140909249 5:141529682-141529682
21 DIAPH1 NM_005219.5(DIAPH1):c.2200G>A (p.Gly734Arg) SNV Uncertain significance 351288 rs374788809 5:140953217-140953217 5:141573650-141573650
22 DIAPH1 NM_005219.5(DIAPH1):c.65G>A (p.Ser22Asn) SNV Uncertain significance 849265 5:140998417-140998417 5:141618850-141618850
23 DIAPH1 NM_005219.5(DIAPH1):c.2030C>A (p.Pro677Gln) SNV Uncertain significance 850652 5:140953387-140953387 5:141573820-141573820
24 DIAPH1 NM_005219.5(DIAPH1):c.88G>T (p.Gly30Cys) SNV Uncertain significance 852715 5:140998394-140998394 5:141618827-141618827
25 DIAPH1 NM_005219.5(DIAPH1):c.825G>A (p.Met275Ile) SNV Uncertain significance 853165 5:140958763-140958763 5:141579196-141579196
26 DIAPH1 NM_005219.5(DIAPH1):c.88G>A (p.Gly30Ser) SNV Uncertain significance 853238 5:140998394-140998394 5:141618827-141618827
27 DIAPH1 NM_005219.5(DIAPH1):c.1601A>G (p.Lys534Arg) SNV Uncertain significance 854270 5:140954574-140954574 5:141575007-141575007
28 DIAPH1 NM_005219.5(DIAPH1):c.3023G>A (p.Arg1008Gln) SNV Uncertain significance 854716 5:140908145-140908145 5:141528578-141528578
29 DIAPH1 NM_005219.5(DIAPH1):c.3292C>A (p.Gln1098Lys) SNV Uncertain significance 854885 5:140906010-140906010 5:141526443-141526443
30 DIAPH1 NM_005219.5(DIAPH1):c.3638G>A (p.Arg1213Gln) SNV Uncertain significance 855139 5:140903733-140903733 5:141524166-141524166
31 DIAPH1 NM_005219.5(DIAPH1):c.1835C>T (p.Pro612Leu) SNV Uncertain significance 855944 5:140953582-140953582 5:141574015-141574015
32 DIAPH1 NM_005219.5(DIAPH1):c.941G>C (p.Cys314Ser) SNV Uncertain significance 860879 5:140958185-140958185 5:141578618-141578618
33 DIAPH1 NM_005219.5(DIAPH1):c.3677G>A (p.Gly1226Glu) SNV Uncertain significance 862223 5:140896560-140896560 5:141516993-141516993
34 DIAPH1 NM_005219.5(DIAPH1):c.300G>C (p.Leu100=) SNV Uncertain significance 863535 5:140966609-140966609 5:141587042-141587042
35 DIAPH1 NM_005219.5(DIAPH1):c.1666G>C (p.Glu556Gln) SNV Uncertain significance 904038 5:140953751-140953751 5:141574184-141574184
36 DIAPH1 NM_005219.5(DIAPH1):c.1594A>G (p.Thr532Ala) SNV Uncertain significance 904039 5:140954581-140954581 5:141575014-141575014
37 DIAPH1 NM_005219.5(DIAPH1):c.1531C>A (p.Gln511Lys) SNV Uncertain significance 904040 5:140954644-140954644 5:141575077-141575077
38 DIAPH1 NM_005219.5(DIAPH1):c.230A>G (p.Asp77Gly) SNV Uncertain significance 904107 5:140966679-140966679 5:141587112-141587112
39 DIAPH1 NM_005219.5(DIAPH1):c.217G>A (p.Ala73Thr) SNV Uncertain significance 575565 rs184081055 5:140966692-140966692 5:141587125-141587125
40 DIAPH1 NM_005219.5(DIAPH1):c.42C>G (p.Thr14=) SNV Uncertain significance 904108 5:140998440-140998440 5:141618873-141618873
41 DIAPH1 NM_005219.5(DIAPH1):c.1498G>A (p.Val500Met) SNV Uncertain significance 904818 5:140954677-140954677 5:141575110-141575110
42 DIAPH1 NM_005219.5(DIAPH1):c.1359G>A (p.Lys453=) SNV Uncertain significance 904819 5:140956360-140956360 5:141576793-141576793
43 DIAPH1 NM_005219.5(DIAPH1):c.1044+15T>C SNV Uncertain significance 904820 5:140958067-140958067 5:141578500-141578500
44 DIAPH1 NM_005219.5(DIAPH1):c.981A>G (p.Glu327=) SNV Uncertain significance 904821 5:140958145-140958145 5:141578578-141578578
45 DIAPH1 NM_005219.5(DIAPH1):c.*1309A>T SNV Uncertain significance 905790 5:140895109-140895109 5:141515542-141515542
46 DIAPH1 NM_005219.5(DIAPH1):c.3736G>T (p.Val1246Phe) SNV Uncertain significance 905856 5:140896501-140896501 5:141516934-141516934
47 DIAPH1 NM_005219.5(DIAPH1):c.3467G>C (p.Arg1156Pro) SNV Uncertain significance 905857 5:140905712-140905712 5:141526145-141526145
48 DIAPH1 NM_005219.5(DIAPH1):c.3099T>C (p.Asp1033=) SNV Uncertain significance 179391 rs727504838 5:140908069-140908069 5:141528502-141528502
49 DIAPH1 NM_005219.5(DIAPH1):c.2800C>T (p.Arg934Trp) SNV Uncertain significance 573683 rs200688040 5:140908487-140908487 5:141528920-141528920
50 DIAPH1 NM_005219.5(DIAPH1):c.2779A>G (p.Met927Val) SNV Uncertain significance 905858 5:140908508-140908508 5:141528941-141528941

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Dominant 1, with or Without Thrombocytopenia:

73
# Symbol AA change Variation ID SNP ID
1 DIAPH1 p.Pro678Ser VAR_079874 rs186370335

Expression for Deafness, Autosomal Dominant 1, with or Without Thrombocytopenia

Search GEO for disease gene expression data for Deafness, Autosomal Dominant 1, with or Without Thrombocytopenia.

Pathways for Deafness, Autosomal Dominant 1, with or Without Thrombocytopenia

Pathways related to Deafness, Autosomal Dominant 1, with or Without Thrombocytopenia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.8 PTPRR PTPRQ MYO7A MYO3A MYO15A MYH14
2
Show member pathways
11.93 MYO7A MYO3A MYO15A MYH14 DIAPH3 DIAPH1
3
Show member pathways
11.84 MYO7A MYO3A MYO15A MYH14
4 10.8 MYO7A MYO3A MYO15A MYH14

GO Terms for Deafness, Autosomal Dominant 1, with or Without Thrombocytopenia

Cellular components related to Deafness, Autosomal Dominant 1, with or Without Thrombocytopenia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.8 TRIOBP MYO7A MYO3A MYO15A DIAPH1 ACTRT2
2 myosin complex GO:0016459 9.46 MYO7A MYO3A MYO15A MYH14
3 stereocilium bundle GO:0032421 9.26 PTPRQ MYO15A
4 stereocilium GO:0032420 9.26 TPRN MYO7A MYO3A MYO15A
5 stereocilium base GO:0120044 8.8 TRIOBP TPRN MYO7A

Biological processes related to Deafness, Autosomal Dominant 1, with or Without Thrombocytopenia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 dephosphorylation GO:0016311 9.61 PTPRR PTPRQ PLPPR5
2 actin filament polymerization GO:0030041 9.46 DIAPH3 DIAPH1
3 actin filament organization GO:0007015 9.46 TRIOBP MYO7A MYO15A DIAPH1
4 inner ear morphogenesis GO:0042472 9.43 PTPRQ MYO7A MYO15A
5 vesicle transport along actin filament GO:0030050 9.4 MYO7A MYO15A
6 actin filament-based movement GO:0030048 9.37 MYO7A MYH14
7 cellular component organization GO:0016043 9.32 DIAPH3 DIAPH1
8 sensory perception of sound GO:0007605 9.32 WFS1 TRIOBP TPRN TECTA MYO7A MYO3A
9 auditory receptor cell stereocilium organization GO:0060088 9.13 TRIOBP TPRN MYO7A

Molecular functions related to Deafness, Autosomal Dominant 1, with or Without Thrombocytopenia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin filament binding GO:0051015 9.67 TRIOBP MYO7A MYO15A MYH14
2 calmodulin binding GO:0005516 9.65 WFS1 MYO7A MYO3A MYO15A MYH14
3 motor activity GO:0003774 9.62 MYO7A MYO3A MYO15A MYH14
4 microfilament motor activity GO:0000146 9.46 MYO7A MYO3A MYO15A MYH14
5 Rho GTPase binding GO:0017048 9.4 DIAPH3 DIAPH1
6 actin-dependent ATPase activity GO:0030898 9.26 MYO7A MYO3A MYO15A MYH14
7 actin binding GO:0003779 9.23 TRIOBP MYO7A MYO3A MYO15A MYH14 FMN1

Sources for Deafness, Autosomal Dominant 1, with or Without Thrombocytopenia

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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