Glaucoma 1, Open Angle, O disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Sources

Aliases & Classifications for Glaucoma 1, Open Angle, O

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

Name: Glaucoma 1, Open Angle, O ⁵⁷ ⁷⁵ ²⁹ ⁶ ⁷³

Glaucoma 1, Open Angle, 1o ⁵⁷ ¹³

Glc1o ⁵⁷ ⁷⁵

Primary Open Angle Glaucoma 1o ⁷⁵

Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Eye diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 613100

MedGen ⁴² C2751294

MeSH ⁴⁴ D005902

SNOMED-CT via HPO ⁶⁹ 77075001 392288006

UMLS ⁷³ C2751294

Sources

Summaries for Glaucoma 1, Open Angle, O

UniProtKB/Swiss-Prot : ⁷⁵ Glaucoma 1, open angle, O: 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, O, is also known as glaucoma 1, open angle, 1o. An important gene associated with Glaucoma 1, Open Angle, O is NTF4 (Neurotrophin 4). Affiliated tissues include eye, and related phenotype is open angle glaucoma.

Description from OMIM: 613100

Sources

Related Diseases for Glaucoma 1, Open Angle, O

Diseases in the Glaucoma 1, Open Angle, J family:

Glaucoma 1, Open Angle, K	Glaucoma 1, Open Angle, M
Glaucoma 1, Open Angle, N	Glaucoma 1, Open Angle, H
Glaucoma 1, Open Angle, O

Sources

Symptoms & Phenotypes for Glaucoma 1, Open Angle, O

Clinical features from OMIM:

613100

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

³²

#	Description	HPO Frequency	HPO Source Accession
1	open angle glaucoma ³²		HP:0012108

Sources

Drugs & Therapeutics for Glaucoma 1, Open Angle, O

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

Sources

Genetic Tests for Glaucoma 1, Open Angle, O

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

#	Genetic test	Affiliating Genes
1	Glaucoma 1, Open Angle, O ²⁹	NTF4

Sources

Anatomical Context for Glaucoma 1, Open Angle, O

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

⁴¹

Eye

Sources

Publications for Glaucoma 1, Open Angle, O

Sources

Genes for Glaucoma 1, Open Angle, O

Genes related to Glaucoma 1, Open Angle, O (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	NTF4	Neurotrophin 4	Protein Coding	1029.45	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	27535533 19765683 20215012

Sources

Variations for Glaucoma 1, Open Angle, O

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

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	NTF4	NM_006179.4(NTF4): c.263C> T (p.Ala88Val)	single nucleotide variant	Uncertain significance	rs61732310	GRCh37	Chromosome 19, 49564992: 49564992
2	NTF4	NM_006179.4(NTF4): c.263C> T (p.Ala88Val)	single nucleotide variant	Uncertain significance	rs61732310	GRCh38	Chromosome 19, 49061735: 49061735
3	NTF4	NM_006179.4(NTF4): c.616C> T (p.Arg206Trp)	single nucleotide variant	Pathogenic	rs121918427	GRCh37	Chromosome 19, 49564639: 49564639
4	NTF4	NM_006179.4(NTF4): c.616C> T (p.Arg206Trp)	single nucleotide variant	Pathogenic	rs121918427	GRCh38	Chromosome 19, 49061382: 49061382
5	NTF4	NM_006179.4(NTF4): c.617G> A (p.Arg206Gln)	single nucleotide variant	Pathogenic	rs121918428	GRCh37	Chromosome 19, 49564638: 49564638
6	NTF4	NM_006179.4(NTF4): c.617G> A (p.Arg206Gln)	single nucleotide variant	Pathogenic	rs121918428	GRCh38	Chromosome 19, 49061381: 49061381

Sources

Expression for Glaucoma 1, Open Angle, O

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

Sources

Pathways for Glaucoma 1, Open Angle, O

Sources

GO Terms for Glaucoma 1, Open Angle, O

Sources

Sources for Glaucoma 1, Open Angle, O

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

Glaucoma 1, Open Angle, O (GLC1O)

Aliases & Classifications for Glaucoma 1, Open Angle, O

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

Classifications:

External Ids:

Summaries for Glaucoma 1, Open Angle, O

Related Diseases for Glaucoma 1, Open Angle, O

Diseases in the Glaucoma 1, Open Angle, J family:

Symptoms & Phenotypes for Glaucoma 1, Open Angle, O

Clinical features from OMIM:

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

Drugs & Therapeutics for Glaucoma 1, Open Angle, O

Genetic Tests for Glaucoma 1, Open Angle, O

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

Anatomical Context for Glaucoma 1, Open Angle, O

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

Publications for Glaucoma 1, Open Angle, O

Genes for Glaucoma 1, Open Angle, O

Genes related to Glaucoma 1, Open Angle, O (1 elite genes):

Variations for Glaucoma 1, Open Angle, O

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

Expression for Glaucoma 1, Open Angle, O

Pathways for Glaucoma 1, Open Angle, O

GO Terms for Glaucoma 1, Open Angle, O

Sources for Glaucoma 1, Open Angle, O