Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
Preferred Name

CHM RAB ESCORT PROTEIN

Synonyms

REP1

CHM

RAB GERANYLGERANYLTRANSFERASE, COMPONENT A

RAB GG TRANSFERASE

CHM GENE

CHOROIDEREMIA, SALLA TYPE

RAB ESCORT PROTEIN 1

GGTA

CHOROIDEREMIA

ID

http://purl.bioontology.org/ontology/OMIM/300390

altLabel

REP1

CHM

RAB GERANYLGERANYLTRANSFERASE, COMPONENT A

RAB GG TRANSFERASE

CHM GENE

CHOROIDEREMIA, SALLA TYPE

RAB ESCORT PROTEIN 1

GGTA

CHOROIDEREMIA

cui

C4016478

C0008525

C1413394

Gene Locus

Xq21.2

Gene Symbol

TCD

CHM

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/300390.0011

http://purl.bioontology.org/ontology/OMIM/300390.0010

http://purl.bioontology.org/ontology/OMIM/300390.0006

http://purl.bioontology.org/ontology/OMIM/300390.0008

http://purl.bioontology.org/ontology/OMIM/300390.0004

http://purl.bioontology.org/ontology/OMIM/300390.0005

http://purl.bioontology.org/ontology/OMIM/300390.0009

http://purl.bioontology.org/ontology/OMIM/300390.0001

http://purl.bioontology.org/ontology/OMIM/300390.0002

http://purl.bioontology.org/ontology/OMIM/300390.0003

http://purl.bioontology.org/ontology/OMIM/300390.0007

MIMTYPEMEANING

Gene with known sequence

notation

300390

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

CHM RAB ESCORT PROTEIN

tui

T047

T033

T028

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