Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

5,10-METHYLENETETRAHYDROFOLATE REDUCTASE

Synonyms

HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY

ID

http://purl.bioontology.org/ontology/OMIM/607093

altLabel

HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY

MTHFR THERMOLABILE POLYMORPHISM

HOMOCYSTEINURIA DUE TO MTHFR DEFICIENCY

SCHIZOPHRENIA, SUSCEPTIBILITY TO

MTHFR

cui

C4017064

C2675945

C4017063

C0919427

C4017062

Gene Locus

1p36.3

Gene Symbol

MTHFR

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/607093.0002

http://purl.bioontology.org/ontology/OMIM/607093.0001

http://purl.bioontology.org/ontology/OMIM/607093.0003

http://purl.bioontology.org/ontology/OMIM/607093.0007

http://purl.bioontology.org/ontology/OMIM/607093.0008

http://purl.bioontology.org/ontology/OMIM/607093.0009

http://purl.bioontology.org/ontology/OMIM/607093.0010

http://purl.bioontology.org/ontology/OMIM/607093.0012

http://purl.bioontology.org/ontology/OMIM/607093.0011

http://purl.bioontology.org/ontology/OMIM/607093.0006

http://purl.bioontology.org/ontology/OMIM/607093.0004

http://purl.bioontology.org/ontology/OMIM/607093.0005

MIMTYPEMEANING

Gene with known sequence

notation

607093

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

5,10-METHYLENETETRAHYDROFOLATE REDUCTASE

tui

T028

T033

Delete Subject Author Type Created
No notes to display
Create New Mapping

Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/PR_000023212 Protein Ontology LOOM
http://purl.bioontology.org/ontology/LNC/LP19739-9 Logical Observation Identifier Names and Codes CUI
http://purl.bioontology.org/ontology/LNC/LP15306-1 Logical Observation Identifier Names and Codes LOOM
http://purl.bioontology.org/ontology/LNC/MTHU027231 Logical Observation Identifier Names and Codes LOOM