GLC1B
MCID: GLC101
MIFTS: 17

Glaucoma 1, Open Angle, B (GLC1B)

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

Aliases & Classifications for Glaucoma 1, Open Angle, B

MalaCards integrated aliases for Glaucoma 1, Open Angle, B:

Name: Glaucoma 1, Open Angle, B 57 29 6 70
Glaucoma 1b, Primary Open Angle, Adult Onset 57 13
Glc1b 57

Classifications:



External Ids:

OMIM® 57 606689
MedGen 41 C3887942
UMLS 70 C3887942

Summaries for Glaucoma 1, Open Angle, B

MalaCards based summary : Glaucoma 1, Open Angle, B, also known as glaucoma 1b, primary open angle, adult onset, is related to intraocular pressure quantitative trait locus and glaucoma, primary open angle. An important gene associated with Glaucoma 1, Open Angle, B is FASTKD1 (FAST Kinase Domains 1).

More information from OMIM: 606689

Related Diseases for Glaucoma 1, Open Angle, B

Graphical network of the top 20 diseases related to Glaucoma 1, Open Angle, B:



Diseases related to Glaucoma 1, Open Angle, B

Symptoms & Phenotypes for Glaucoma 1, Open Angle, B

Clinical features from OMIM®:

606689 (Updated 05-Apr-2021)

Drugs & Therapeutics for Glaucoma 1, Open Angle, B

Search Clinical Trials , NIH Clinical Center for Glaucoma 1, Open Angle, B

Genetic Tests for Glaucoma 1, Open Angle, B

Genetic tests related to Glaucoma 1, Open Angle, B:

# Genetic test Affiliating Genes
1 Glaucoma 1, Open Angle, B 29

Anatomical Context for Glaucoma 1, Open Angle, B

Publications for Glaucoma 1, Open Angle, B

Articles related to Glaucoma 1, Open Angle, B:

(show all 12)
# Title Authors PMID Year
1
Localization of a locus (GLC1B) for adult-onset primary open angle glaucoma to the 2cen-q13 region. 57 61
8812425 1996
2
Association of HK2 and NCK2 with normal tension glaucoma in the Japanese population. 61
23349798 2013
3
Three novel polymorphic microsatellite markers for the glaucoma locus GLC1B by datamining tetranucleotide repeats on chromosome 2p12-q12. 61
21637444 2009
4
Microsatellite analysis of the GLC1B locus on chromosome 2 points to NCK2 as a new candidate gene for normal tension glaucoma. 61
18723748 2008
5
Confirmation of the adult-onset primary open angle glaucoma locus GLC1B at 2cen-q13 in an Australian family. 61
16374045 2006
6
VAMP5 and VAMP8 are most likely not involved in primary open-angle glaucoma. 61
16110299 2005
7
Chromosomal abnormalities and glaucoma: a case of congenital glaucoma with trisomy 8q22-qter/ monosomy 9p23-pter. 61
15823925 2005
8
Exclusion of 14 candidate loci for primary open angle glaucoma in Finnish families. 61
15073581 2004
9
[Genetic ground of primary open angle glaucoma]. 61
15646497 2004
10
Genetic linkage of autosomal dominant primary open angle glaucoma to chromosome 3q in a Greek pedigree. 61
11436127 2001
11
[Genetic studies on primary open angle glaucoma]. 61
10878949 2000
12
Recent advances in molecular genetics of glaucomas. 61
9300658 1997

Variations for Glaucoma 1, Open Angle, B

ClinVar genetic disease variations for Glaucoma 1, Open Angle, B:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FASTKD1 NM_024622.6(FASTKD1):c.2230T>A (p.Tyr744Asn) SNV Pathogenic 548952 rs1553534421 GRCh37: 2:170387959-170387959
GRCh38: 2:169531449-169531449

Expression for Glaucoma 1, Open Angle, B

Search GEO for disease gene expression data for Glaucoma 1, Open Angle, B.

Pathways for Glaucoma 1, Open Angle, B

GO Terms for Glaucoma 1, Open Angle, B

Sources for Glaucoma 1, Open Angle, B

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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