MCID: GLC059
MIFTS: 10

Glaucoma 1, Open Angle, 1o malady

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

Summaries for Glaucoma 1, Open Angle, 1o

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MalaCards based summary: Glaucoma 1, Open Angle, 1o 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:46 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 46


Classifications:

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


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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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:

7
id Gene Name 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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Expression patterns in normal tissues for genes affiliated with Glaucoma 1, Open Angle, 1o

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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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet