MCID: GLL043
MIFTS: 14

Galloway-Mowat Syndrome 2

Categories: Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Galloway-Mowat Syndrome 2

MalaCards integrated aliases for Galloway-Mowat Syndrome 2:

Name: Galloway-Mowat Syndrome 2 12 15

Classifications:



External Ids:

Disease Ontology 12 DOID:0080244

Summaries for Galloway-Mowat Syndrome 2

Disease Ontology : 12 A Galloway-Mowat syndrome that has material basis in hemizygous mutation in the LAGE3 gene on chromosome Xq28.

MalaCards based summary : Galloway-Mowat Syndrome 2 is related to galloway-mowat syndrome 2, x-linked and joubert syndrome 20. An important gene associated with Galloway-Mowat Syndrome 2 is LAGE3 (L Antigen Family Member 3), and among its related pathways/superpathways is tRNA processing.

Related Diseases for Galloway-Mowat Syndrome 2

Graphical network of the top 20 diseases related to Galloway-Mowat Syndrome 2:



Diseases related to Galloway-Mowat Syndrome 2

Symptoms & Phenotypes for Galloway-Mowat Syndrome 2

Drugs & Therapeutics for Galloway-Mowat Syndrome 2

Search Clinical Trials , NIH Clinical Center for Galloway-Mowat Syndrome 2

Genetic Tests for Galloway-Mowat Syndrome 2

Anatomical Context for Galloway-Mowat Syndrome 2

Publications for Galloway-Mowat Syndrome 2

Variations for Galloway-Mowat Syndrome 2

Expression for Galloway-Mowat Syndrome 2

Search GEO for disease gene expression data for Galloway-Mowat Syndrome 2.

Pathways for Galloway-Mowat Syndrome 2

GO Terms for Galloway-Mowat Syndrome 2

Cellular components related to Galloway-Mowat Syndrome 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 EKC/KEOPS complex GO:0000408 9.02 TPRKB TP53RK OSGEP LAGE3 GON7

Biological processes related to Galloway-Mowat Syndrome 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 tRNA threonylcarbamoyladenosine metabolic process GO:0070525 9.16 TP53RK LAGE3
2 tRNA threonylcarbamoyladenosine modification GO:0002949 8.96 TPRKB OSGEP
3 tRNA processing GO:0008033 8.92 TPRKB TP53RK OSGEP LAGE3

Sources for Galloway-Mowat Syndrome 2

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