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

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Aliases & Classifications for Glaucoma 1, Open Angle, O

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

Name: Glaucoma 1, Open Angle, O ⁵⁸ ⁷⁶ ³⁰ ⁶ ⁷⁴

Glaucoma 1, Open Angle, 1o ⁵⁸ ¹³

Glc1o ⁵⁸ ⁷⁶

Primary Open Angle Glaucoma 1o ⁷⁶

Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Eye diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁸ 613100

MeSH ⁴⁵ D005902

MedGen ⁴³ C2751294

SNOMED-CT via HPO ⁷⁰ 77075001

UMLS ⁷⁴ C2751294

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Summaries for Glaucoma 1, Open Angle, O

UniProtKB/Swiss-Prot : ⁷⁶ 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

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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

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Symptoms & Phenotypes for Glaucoma 1, Open Angle, O

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

³³

#	Description	HPO Frequency	HPO Source Accession
1	open angle glaucoma ³³		HP:0012108

Clinical features from OMIM:

613100

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Drugs & Therapeutics for Glaucoma 1, Open Angle, O

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

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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 ³⁰	NTF4

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Anatomical Context for Glaucoma 1, Open Angle, O

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

⁴²

Eye

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Publications for Glaucoma 1, Open Angle, O

Articles related to Glaucoma 1, Open Angle, O:

#	Title	Authors	Year
1	Analysis of protein-coding genetic variation in 60,706 humans. ( 27535533 )	Lek M...Exome Aggregation Consortium	2016
2	No evidence of association of heterozygous NTF4 mutations in patients with primary open-angle glaucoma. ( 20215012 )	Liu Y...Hauser MA	2010
3	Heterozygous NTF4 mutations impairing neurotrophin-4 signaling in patients with primary open-angle glaucoma. ( 19765683 )	Pasutto F...Reis A	2009

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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	1029.44	Molecular basis known ⁵⁸ Pathogenic ⁶ Genetic Tests ³⁰ GeneCards inferred via : Disorders Variants (show sections)	27535533 19765683 20215012

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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

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Expression for Glaucoma 1, Open Angle, O

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

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Pathways for Glaucoma 1, Open Angle, O

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GO Terms for Glaucoma 1, Open Angle, O

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Sources for Glaucoma 1, Open Angle, O

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⁷⁷ 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

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

Clinical features from OMIM:

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

Articles related to 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