MCID: NNS016
MIFTS: 11

Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

Categories: Genetic diseases, Ear diseases

Aliases & Classifications for Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

MalaCards integrated aliases for Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive:

Name: Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive 24 29

Classifications:



Summaries for Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

MalaCards based summary : Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive is related to discrete papular lichen myxedematosus and npm1-related acute myeloid leukemia. An important gene associated with Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive is MET (MET Proto-Oncogene, Receptor Tyrosine Kinase). Related phenotypes are digestive/alimentary and vision/eye

Related Diseases for Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

Diseases related to Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 discrete papular lichen myxedematosus 9.5 MET USH1C
2 npm1-related acute myeloid leukemia 9.2 MET USH1C

Symptoms & Phenotypes for Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

MGI Mouse Phenotypes related to Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 8.96 MET USH1C
2 vision/eye MP:0005391 8.62 MET USH1C

Drugs & Therapeutics for Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

Genetic Tests for Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

Genetic tests related to Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive:

id Genetic test Affiliating Genes
1 Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive 29 24 USH1C

Anatomical Context for Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

Publications for Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

Variations for Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

ClinVar genetic disease variations for Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 MET NM_000245.3(MET): c.2521T> G (p.Phe841Val) single nucleotide variant Pathogenic rs794728016 GRCh38 Chromosome 7, 116763206: 116763206

Expression for Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

Search GEO for disease gene expression data for Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive.

Pathways for Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

GO Terms for Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

Sources for Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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