MCID: GLB016
MIFTS: 3

Glb1-Related Disorders

Aliases & Classifications for Glb1-Related Disorders

MalaCards integrated aliases for Glb1-Related Disorders:

Name: Glb1-Related Disorders 24 29 6

Summaries for Glb1-Related Disorders

MalaCards based summary : Glb1-Related Disorders An important gene associated with Glb1-Related Disorders is GLB1 (Galactosidase Beta 1).

GeneReviews: NBK164500

Related Diseases for Glb1-Related Disorders

Symptoms & Phenotypes for Glb1-Related Disorders

Drugs & Therapeutics for Glb1-Related Disorders

Search Clinical Trials , NIH Clinical Center for Glb1-Related Disorders

Genetic Tests for Glb1-Related Disorders

Genetic tests related to Glb1-Related Disorders:

# Genetic test Affiliating Genes
1 Glb1-Related Disorders 29

Anatomical Context for Glb1-Related Disorders

Publications for Glb1-Related Disorders

Articles related to Glb1-Related Disorders:

# Title Authors Year
1
GLB1-Related Disorders ( 24156116 )
1993

Variations for Glb1-Related Disorders

ClinVar genetic disease variations for Glb1-Related Disorders:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GLB1 NM_000404.3(GLB1): c.602G> A (p.Arg201His) single nucleotide variant Pathogenic rs189115557 GRCh37 Chromosome 3, 33099712: 33099712
2 GLB1 NM_000404.3(GLB1): c.602G> A (p.Arg201His) single nucleotide variant Pathogenic rs189115557 GRCh38 Chromosome 3, 33058220: 33058220

Expression for Glb1-Related Disorders

Search GEO for disease gene expression data for Glb1-Related Disorders.

Pathways for Glb1-Related Disorders

GO Terms for Glb1-Related Disorders

Sources for Glb1-Related Disorders

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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