Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
Preferred Name

5-METHYLTETRAHYDROFOLATE-HOMOCYSTEINE S-METHYLTRANSFERASE

Synonyms

HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE

ID

http://purl.bioontology.org/ontology/OMIM/156570

altLabel

HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE

MTR

NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO

METHIONINE SYNTHASE

MS

TETRAHYDROPTEROYLGLUTAMATE METHYLTRANSFERASE

cui

C1855128

C1417453

C4016262

Gene Locus

1q43

Gene Symbol

MTR

HMAG

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/156570.0004

http://purl.bioontology.org/ontology/OMIM/156570.0001

http://purl.bioontology.org/ontology/OMIM/156570.0005

http://purl.bioontology.org/ontology/OMIM/156570.0009

http://purl.bioontology.org/ontology/OMIM/156570.0007

http://purl.bioontology.org/ontology/OMIM/156570.0002

http://purl.bioontology.org/ontology/OMIM/156570.0003

http://purl.bioontology.org/ontology/OMIM/156570.0006

http://purl.bioontology.org/ontology/OMIM/156570.0008

http://purl.bioontology.org/ontology/OMIM/156570.0010

http://purl.bioontology.org/ontology/OMIM/156570.0011

MIMTYPEMEANING

Gene with known sequence

notation

156570

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

5-METHYLTETRAHYDROFOLATE-HOMOCYSTEINE S-METHYLTRANSFERASE

tui

T047

T033

T028

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