Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
Preferred Name

COMPLEMENT FACTOR I
Synonyms

FI

COMPLEMENT COMPONENT I

HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3

COMPLEMENT FACTOR I DEFICIENCY

MACULAR DEGENERATION, AGE-RELATED, 13, SUSCEPTIBILITY TO

CFI

FACTOR I

C3b INACTIVATOR

ID

http://purl.bioontology.org/ontology/OMIM/217030

altLabel

FI

COMPLEMENT COMPONENT I

HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3

COMPLEMENT FACTOR I DEFICIENCY

MACULAR DEGENERATION, AGE-RELATED, 13, SUSCEPTIBILITY TO

CFI

FACTOR I

C3b INACTIVATOR

cui

C1442484

C4016436

C2752039

C3463916

Gene Locus

4q25

Gene Symbol

FI

AHUS3

CFI

ARMD13

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/217030.0010

http://purl.bioontology.org/ontology/OMIM/217030.0011

http://purl.bioontology.org/ontology/OMIM/217030.0002

http://purl.bioontology.org/ontology/OMIM/217030.0004

http://purl.bioontology.org/ontology/OMIM/217030.0006

http://purl.bioontology.org/ontology/OMIM/217030.0001

http://purl.bioontology.org/ontology/OMIM/217030.0009

http://purl.bioontology.org/ontology/OMIM/217030.0007

http://purl.bioontology.org/ontology/OMIM/217030.0008

http://purl.bioontology.org/ontology/OMIM/217030.0005

http://purl.bioontology.org/ontology/OMIM/217030.0003

MIMTYPEMEANING

Gene with known sequence

notation

217030

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

COMPLEMENT FACTOR I

tui

T047

T033

T028

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