Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

OPTINEURIN

Synonyms

TFIIIA-INTP

ID

http://purl.bioontology.org/ontology/OMIM/602432

altLabel

TFIIIA-INTP

TRANSCRIPTION FACTOR IIIA-INTERACTING PROTEIN

GLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO

AMYOTROPHIC LATERAL SCLEROSIS 12

GLAUCOMA 1, OPEN ANGLE, E

14.7K-INTERACTING PROTEIN

HYPL

OPTN

NEMO-RELATED PROTEIN

NRP

GLC1E GENE

FIP2

cui

C3150692

C1842026

C1424774

C1847730

Gene Locus

10p15-p14

Gene Symbol

GLC1E

ALS12

OPTN

HYPL

FIP2

NRP

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/602432.0001

http://purl.bioontology.org/ontology/OMIM/602432.0004

http://purl.bioontology.org/ontology/OMIM/602432.0002

http://purl.bioontology.org/ontology/OMIM/602432.0003

http://purl.bioontology.org/ontology/OMIM/602432.0005

http://purl.bioontology.org/ontology/OMIM/602432.0006

http://purl.bioontology.org/ontology/OMIM/602432.0007

MIMTYPEMEANING

Gene with known sequence

notation

602432

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

OPTINEURIN

tui

T028

T033

T047

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Delete Mapping To Ontology Source
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C119642 National Cancer Institute Thesaurus LOOM
http://purl.bioontology.org/ontology/MESH/C564233 Medical Subject Headings CUI
http://purl.obolibrary.org/obo/PR_000011652 Protein Ontology LOOM