MCID: GLC059
MIFTS: 12

Glaucoma 1, Open Angle, 1o malady

Genetic diseases, Rare diseases, Eye diseases, Fetal diseases categories

Summaries for Glaucoma 1, Open Angle, 1o

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MalaCards based summary: Glaucoma 1, Open Angle, 1o, is also known as glaucoma 1, open angle, o, and has symptoms including primary open angle glaucoma An important gene associated with Glaucoma 1, Open Angle, 1o is NTF4 (neurotrophin 4).

Description from OMIM:45 613100

Aliases & Classifications for Glaucoma 1, Open Angle, 1o

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Glaucoma 1, Open Angle, 1o, Aliases & Descriptions:

Name: Glaucoma 1, Open Angle, 1o 45 10
 
Glaucoma 1, Open Angle, O 45 22


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Eye diseases


External Ids:

OMIM45 613100

Related Diseases for Glaucoma 1, Open Angle, 1o

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Symptoms for Glaucoma 1, Open Angle, 1o

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Clinical features from OMIM:

613100

HPO human phenotypes related to Glaucoma 1, Open Angle, 1o:

id Description Frequency HPO Source Accession
1 primary open angle glaucoma HP:0012108

Drugs & Therapeutics for Glaucoma 1, Open Angle, 1o

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Drug clinical trials:

Search ClinicalTrials for Glaucoma 1, Open Angle, 1o

Search NIH Clinical Center for Glaucoma 1, Open Angle, 1o

Genetic Tests for Glaucoma 1, Open Angle, 1o

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

id Genetic test Affiliating Genes
1 Glaucoma 1, Open Angle, O22

Anatomical Context for Glaucoma 1, Open Angle, 1o

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Animal Models for Glaucoma 1, Open Angle, 1o or affiliated genes

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Publications for Glaucoma 1, Open Angle, 1o

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Variations for Glaucoma 1, Open Angle, 1o

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Clinvar genetic disease variations for Glaucoma 1, Open Angle, 1o:

6
id Gene Variation Type Significance SNP ID Assembly Location
1NTF4NM_006179.4(NTF4): c.263C> T (p.Ala88Val)single nucleotide variantPathogenicrs61732310GRCh37Chr 19, 49564992: 49564992
2NTF4NM_006179.4(NTF4): c.616C> T (p.Arg206Trp)single nucleotide variantPathogenicrs121918427GRCh37Chr 19, 49564639: 49564639
3NTF4NM_006179.4(NTF4): c.617G> A (p.Arg206Gln)single nucleotide variantPathogenicrs121918428GRCh37Chr 19, 49564638: 49564638

Expression for genes affiliated with Glaucoma 1, Open Angle, 1o

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

Pathways for genes affiliated with Glaucoma 1, Open Angle, 1o

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Compounds for genes affiliated with Glaucoma 1, Open Angle, 1o

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GO Terms for genes affiliated with Glaucoma 1, Open Angle, 1o

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Products for genes affiliated with Glaucoma 1, Open Angle, 1o

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Glaucoma 1, Open Angle, 1o

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet