NMOAS
MCID: NRM023
MIFTS: 9

Neuromuscular Disease and Ocular or Auditory Anomalies with or Without Seizures (NMOAS)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Neuromuscular Disease and Ocular or Auditory Anomalies with or...

MalaCards integrated aliases for Neuromuscular Disease and Ocular or Auditory Anomalies with or Without Seizures:

Name: Neuromuscular Disease and Ocular or Auditory Anomalies with or Without Seizures 56 6
Nmoas 56

Classifications:



External Ids:

OMIM 56 618733

Summaries for Neuromuscular Disease and Ocular or Auditory Anomalies with or...

MalaCards based summary : Neuromuscular Disease and Ocular or Auditory Anomalies with or Without Seizures, is also known as nmoas. An important gene associated with Neuromuscular Disease and Ocular or Auditory Anomalies with or Without Seizures is DHX16 (DEAH-Box Helicase 16).

More information from OMIM: 618733

Related Diseases for Neuromuscular Disease and Ocular or Auditory Anomalies with or...

Symptoms & Phenotypes for Neuromuscular Disease and Ocular or Auditory Anomalies with or...

Clinical features from OMIM:

618733

Drugs & Therapeutics for Neuromuscular Disease and Ocular or Auditory Anomalies with or...

Search Clinical Trials , NIH Clinical Center for Neuromuscular Disease and Ocular or Auditory Anomalies with or Without Seizures

Genetic Tests for Neuromuscular Disease and Ocular or Auditory Anomalies with or...

Anatomical Context for Neuromuscular Disease and Ocular or Auditory Anomalies with or...

Publications for Neuromuscular Disease and Ocular or Auditory Anomalies with or...

Articles related to Neuromuscular Disease and Ocular or Auditory Anomalies with or Without Seizures:

# Title Authors PMID Year
1
Paralog Studies Augment Gene Discovery: DDX and DHX Genes. 56 6
31256877 2019

Variations for Neuromuscular Disease and Ocular or Auditory Anomalies with or...

ClinVar genetic disease variations for Neuromuscular Disease and Ocular or Auditory Anomalies with or Without Seizures:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DHX16 NM_003587.5(DHX16):c.2091G>T (p.Gln697His)SNV Pathogenic/Likely pathogenic 691932 6:30624786-30624786 6:30657009-30657009
2 DHX16 NM_003587.5(DHX16):c.2021C>T (p.Thr674Met)SNV Pathogenic/Likely pathogenic 691934 6:30624856-30624856 6:30657079-30657079
3 DHX16 NM_003587.5(DHX16):c.1744T>A (p.Phe582Ile)SNV Pathogenic/Likely pathogenic 691931 6:30627820-30627820 6:30660043-30660043
4 DHX16 NM_003587.5(DHX16):c.1280G>A (p.Gly427Glu)SNV Pathogenic/Likely pathogenic 691933 6:30632615-30632615 6:30664838-30664838

Expression for Neuromuscular Disease and Ocular or Auditory Anomalies with or...

Search GEO for disease gene expression data for Neuromuscular Disease and Ocular or Auditory Anomalies with or Without Seizures.

Pathways for Neuromuscular Disease and Ocular or Auditory Anomalies with or...

GO Terms for Neuromuscular Disease and Ocular or Auditory Anomalies with or...

Sources for Neuromuscular Disease and Ocular or Auditory Anomalies with or...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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