MCID: GLC060
MIFTS: 13

Glaucoma 1, Open Angle, G

Categories: Genetic diseases

Aliases & Classifications for Glaucoma 1, Open Angle, G

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

Name: Glaucoma 1, Open Angle, G 53 71 28 13 69
Glc1g 53 71
Primary Open Angle Glaucoma 1g 71

Classifications:



External Ids:

OMIM 53 609887
MedGen 39 C1835933
MeSH 41 D005902
SNOMED-CT via HPO 65 77075001
UMLS 69 C1835933

Summaries for Glaucoma 1, Open Angle, G

UniProtKB/Swiss-Prot : 71 Glaucoma 1, open angle, G: A form of primary open angle glaucoma (POAG). POAG is characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of the eye is open, and usually the intraocular pressure is increased. However, glaucoma can occur at any intraocular pressure. The disease is generally asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place.

MalaCards based summary : Glaucoma 1, Open Angle, G, is also known as glc1g, and has symptoms including open angle glaucoma An important gene associated with Glaucoma 1, Open Angle, G is WDR36 (WD Repeat Domain 36). Affiliated tissues include eye.

Description from OMIM: 609887

Related Diseases for Glaucoma 1, Open Angle, G

Symptoms & Phenotypes for Glaucoma 1, Open Angle, G

Clinical features from OMIM:

609887

Human phenotypes related to Glaucoma 1, Open Angle, G:

31
# Description HPO Frequency HPO Source Accession
1 open angle glaucoma 31 HP:0012108

Drugs & Therapeutics for Glaucoma 1, Open Angle, G

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

Genetic Tests for Glaucoma 1, Open Angle, G

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

# Genetic test Affiliating Genes
1 Glaucoma 1, Open Angle, G 28 WDR36

Anatomical Context for Glaucoma 1, Open Angle, G

MalaCards organs/tissues related to Glaucoma 1, Open Angle, G:

38
Eye

Publications for Glaucoma 1, Open Angle, G

Variations for Glaucoma 1, Open Angle, G

UniProtKB/Swiss-Prot genetic disease variations for Glaucoma 1, Open Angle, G:

71
# Symbol AA change Variation ID SNP ID
1 WDR36 p.Asn355Ser VAR_025966 rs118204022
2 WDR36 p.Arg529Gln VAR_025968 rs116529882

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 WDR36 NM_139281.2(WDR36): c.1064A> G (p.Asn355Ser) single nucleotide variant Pathogenic rs118204022 GRCh37 Chromosome 5, 110440041: 110440041

Expression for Glaucoma 1, Open Angle, G

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

Pathways for Glaucoma 1, Open Angle, G

GO Terms for Glaucoma 1, Open Angle, G

Sources for Glaucoma 1, Open Angle, G

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....