Online Mendelian Inheritance in Man - PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS A PROTEIN - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024

Details
Visualization
Notes ( 0 )
Class Mappings ( )

Preferred Name	PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS A PROTEIN
Synonyms	PIGAP1 PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS A PROTEIN, PSEUDOGENE 1 PIGAP NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS PAROXYSMAL NOCTURNAL HEMOGLOBINURIA PIGA MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2
ID	http://purl.bioontology.org/ontology/OMIM/311770
altLabel	PIGAP1 PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS A PROTEIN, PSEUDOGENE 1 PIGAP NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS PAROXYSMAL NOCTURNAL HEMOGLOBINURIA PIGA MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2
cui	C1418559 C1418558 C4751570 C3275508 C0024790
Gene Locus	Xp22.1
Gene Symbol	PIGA MCAHS2 NEDEPH PNH1
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/311770.0010 http://purl.bioontology.org/ontology/OMIM/311770.0012 http://purl.bioontology.org/ontology/OMIM/311770.0018 http://purl.bioontology.org/ontology/OMIM/311770.0016 http://purl.bioontology.org/ontology/OMIM/311770.0014 http://purl.bioontology.org/ontology/OMIM/311770.0013 http://purl.bioontology.org/ontology/OMIM/311770.0017 http://purl.bioontology.org/ontology/OMIM/311770.0015 http://purl.bioontology.org/ontology/OMIM/311770.0011 http://purl.bioontology.org/ontology/OMIM/311770.0019 http://purl.bioontology.org/ontology/OMIM/311770.0008 http://purl.bioontology.org/ontology/OMIM/311770.0005 http://purl.bioontology.org/ontology/OMIM/311770.0003 http://purl.bioontology.org/ontology/OMIM/311770.0002 http://purl.bioontology.org/ontology/OMIM/311770.0007 http://purl.bioontology.org/ontology/OMIM/311770.0004 http://purl.bioontology.org/ontology/OMIM/311770.0001 http://purl.bioontology.org/ontology/OMIM/311770.0006 http://purl.bioontology.org/ontology/OMIM/311770.0009 http://purl.bioontology.org/ontology/OMIM/311770.0020
MIMTYPEMEANING	Gene with known sequence
Moved from	600640
notation	311770
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS A PROTEIN
tui	T047 T028

Subscribe to notes emails

Delete	Subject	Author	Type	Created
No notes to display

Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/SNOMEDCT/774151000	SNOMEDCT	CUI
	http://purl.bioontology.org/ontology/SCTSPA/774151000	SCTSPA	CUI
	http://purl.bioontology.org/ontology/SNMI/DC-15600	SNMI	CUI
	http://purl.bioontology.org/ontology/ICD10CM/D59.5	ICD10CM	CUI
	http://purl.bioontology.org/ontology/MDRFRE/10055629	MDRFRE	CUI
	http://purl.bioontology.org/ontology/PDQ/CDR0000471836	PDQ	CUI
	http://purl.bioontology.org/ontology/MESH/D006457	MESH	CUI
	http://purl.bioontology.org/ontology/MSHFRE/D006457	MSHFRE	CUI
	http://purl.bioontology.org/ontology/CSP/1418-5897	CRISP	CUI
	http://purl.bioontology.org/ontology/MDRGER/10055629	MDRGER	CUI
	http://purl.bioontology.org/ontology/MEDDRA/10034042	MEDDRA	CUI
	http://purl.bioontology.org/ontology/RCD/D1121	RCD	CUI
	http://purl.bioontology.org/ontology/ICD10/D59.5	ICD10	CUI
	http://purl.bioontology.org/ontology/SCTSPA/1963002	SCTSPA	CUI
	http://purl.bioontology.org/ontology/MEDDRA/10055629	MEDDRA	CUI
	http://purl.bioontology.org/ontology/MDRGER/10034042	MDRGER	CUI
	http://purl.bioontology.org/ontology/SNOMEDCT/1963002	SNOMEDCT	CUI
	http://purl.bioontology.org/ontology/MDRFRE/10034042	MDRFRE	CUI