Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024

Preferred Name	COAGULATION FACTOR V
Synonyms	PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 1 STROKE, ISCHEMIC, SUSCEPTIBILITY TO FACTOR V LEIDEN LABILE FACTOR ACTIVATED PROTEIN C COFACTOR PROTEIN C COFACTOR THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE BUDD-CHIARI SYNDROME, SUSCEPTIBILITY TO THROMBOPHILIA DUE TO FACTOR V LEIDEN PCCF FACTOR V DEFICIENCY APC COFACTOR F5 FACTOR V HONG KONG
ID	http://purl.bioontology.org/ontology/OMIM/612309
altLabel	PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 1 STROKE, ISCHEMIC, SUSCEPTIBILITY TO FACTOR V LEIDEN LABILE FACTOR ACTIVATED PROTEIN C COFACTOR PROTEIN C COFACTOR THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE BUDD-CHIARI SYNDROME, SUSCEPTIBILITY TO THROMBOPHILIA DUE TO FACTOR V LEIDEN PCCF FACTOR V DEFICIENCY APC COFACTOR F5 FACTOR V HONG KONG
cui	C2676744 C1861171 C1414509 C1856857 C4317320 C3280670 C4017271
Gene Locus	1q23
Gene Symbol	RPRGL1 F5 THPH2
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/612309.0005 http://purl.bioontology.org/ontology/OMIM/612309.0008 http://purl.bioontology.org/ontology/OMIM/612309.0001 http://purl.bioontology.org/ontology/OMIM/612309.0003 http://purl.bioontology.org/ontology/OMIM/612309.0002 http://purl.bioontology.org/ontology/OMIM/612309.0006 http://purl.bioontology.org/ontology/OMIM/612309.0004 http://purl.bioontology.org/ontology/OMIM/612309.0007 http://purl.bioontology.org/ontology/OMIM/612309.0009 http://purl.bioontology.org/ontology/OMIM/612309.0010 http://purl.bioontology.org/ontology/OMIM/612309.0012 http://purl.bioontology.org/ontology/OMIM/612309.0013 http://purl.bioontology.org/ontology/OMIM/612309.0011 http://purl.bioontology.org/ontology/OMIM/612309.0014
MIMTYPEMEANING	Gene with known sequence
notation	612309
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	COAGULATION FACTOR V
tui	T047 T033 T028

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MEDDRA/10077457	MEDDRA	CUI
http://purl.bioontology.org/ontology/LNC/LP19697-9	LOINC	CUI
http://purl.bioontology.org/ontology/MDRFRE/10048930	MDRFRE	CUI
http://purl.bioontology.org/ontology/MESH/C566056	MESH	CUI
http://purl.bioontology.org/ontology/MDRGER/10077457	MDRGER	CUI
http://purl.bioontology.org/ontology/MDRFRE/10077457	MDRFRE	CUI
http://purl.bioontology.org/ontology/MEDDRA/10048930	MEDDRA	CUI
http://purl.bioontology.org/ontology/SCTSPA/4320005	SCTSPA	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/4320005	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/MDRGER/10048930	MDRGER	CUI
http://purl.bioontology.org/ontology/CSP/0437-2733	CRISP	LOOM
http://www.semanticweb.org/ontologies/STO.owl#OWLClass_14882cfb_aa7c_4a5d_a9cb_73097a851204	STO-DRAFT	LOOM
http://www.semanticweb.org/ontologies/STO.owl#OWLClass_14882cfb_aa7c_4a5d_a9cb_73097a851204	CVAO	LOOM
http://www.orpha.net/ORDO/Orphanet_121673	ORDO	LOOM
http://www.semanticweb.org/admin/ontologies/2022/7/MIO:01559	MIO	LOOM
http://purl.bioontology.org/ontology/SNMI/F-D7360	SNMI	LOOM
http://www.ustb.edu.cn/thesauri/tocr/v1/data#C571347974240596165	ACVD_ONTOLOGY	LOOM
http://purl.obolibrary.org/obo/dinto_0997	DINTO	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C91335	NCIT	LOOM
http://purl.obolibrary.org/obo/NCIT_C91335	BERO	LOOM
http://purl.bioontology.org/ontology/LNC/LP15964-7	LOINC	LOOM
http://purl.obolibrary.org/obo/PR_000007300	PR	LOOM
http://purl.obolibrary.org/obo/PR_000007300	NIFSTD	LOOM
http://purl.obolibrary.org/obo/PR_000007300	OBA	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/60208008	SNOMEDCT	LOOM
http://purl.bioontology.org/ontology/CSP/0437-2733	CRISP	LOOM
http://purl.uniprot.org/uniprot/P12259	FTC	LOOM