MCID: DFN363
MIFTS: 9

Deafness, Autosomal Recessive 26, Modifier of

Categories: Ear diseases

Aliases & Classifications for Deafness, Autosomal Recessive 26, Modifier of

MalaCards integrated aliases for Deafness, Autosomal Recessive 26, Modifier of:

Name: Deafness, Autosomal Recessive 26, Modifier of 57
Deafness, Nonsyndromic, Modifier 1 57 13
Deafness, Nonsyndromic, Modifier of, 1; Dfnm1 57
Deafness, Nonsyndromic, Modifier of, 1 57
Dfnb26, Suppressor of 57
Dfnb26, Modifier of 57
Dfnb26m 57
Dfnm1 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
based on report of 1 large consanguineous pakistani family (last curated june 2018)


Classifications:



External Ids:

OMIM 57 605429

Summaries for Deafness, Autosomal Recessive 26, Modifier of

OMIM : 57 DFNB26M is characterized by normal hearing despite the presence of homozygosity for a causative deafness mutation in the GAB1 gene (Yousaf et al., 2018). (605429)

MalaCards based summary : Deafness, Autosomal Recessive 26, Modifier of, is also known as deafness, nonsyndromic, modifier 1. An important gene associated with Deafness, Autosomal Recessive 26, Modifier of is DFNM1 (Deafness (Recessive, Non-Syndromic) Modifier 1).

Related Diseases for Deafness, Autosomal Recessive 26, Modifier of

Symptoms & Phenotypes for Deafness, Autosomal Recessive 26, Modifier of

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
normal hearing despite being homozygous for a deafness-causing mutation in the gab1 gene


Clinical features from OMIM:

605429

Drugs & Therapeutics for Deafness, Autosomal Recessive 26, Modifier of

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 26, Modifier of

Genetic Tests for Deafness, Autosomal Recessive 26, Modifier of

Anatomical Context for Deafness, Autosomal Recessive 26, Modifier of

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Variations for Deafness, Autosomal Recessive 26, Modifier of

Expression for Deafness, Autosomal Recessive 26, Modifier of

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 26, Modifier of.

Pathways for Deafness, Autosomal Recessive 26, Modifier of

GO Terms for Deafness, Autosomal Recessive 26, Modifier of

Sources for Deafness, Autosomal Recessive 26, Modifier of

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
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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