Online Mendelian Inheritance in Man - CALCIUM CHANNEL, VOLTAGE-DEPENDENT, P/Q TYPE, ALPHA-1A SUBUNIT - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024

Preferred Name	CALCIUM CHANNEL, VOLTAGE-DEPENDENT, P/Q TYPE, ALPHA-1A SUBUNIT
Synonyms	EPISODIC ATAXIA, TYPE 2, AND EPILEPSY CACNA1A ALPHA-1ACT MIGRAINE, FAMILIAL HEMIPLEGIC, 1 MIGRAINE, SPORADIC HEMIPLEGIC SPINOCEREBELLAR ATAXIA 6 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 42 MIGRAINE, SPORADIC HEMIPLEGIC, WITH PROGRESSIVE CEREBELLAR ATAXIA ALPHA-1A C-TERMINAL POLYPEPTIDE CACNA1A C-TERMINAL POLYPEPTIDE CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 4 CaV2.1 MIGRAINE, FAMILIAL HEMIPLEGIC 1, WITH PROGRESSIVE CEREBELLAR ATAXIA CACNL1A4 EPISODIC ATAXIA, TYPE 2
ID	http://purl.bioontology.org/ontology/OMIM/601011
altLabel	EPISODIC ATAXIA, TYPE 2, AND EPILEPSY CACNA1A ALPHA-1ACT MIGRAINE, FAMILIAL HEMIPLEGIC, 1 MIGRAINE, SPORADIC HEMIPLEGIC SPINOCEREBELLAR ATAXIA 6 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 42 MIGRAINE, SPORADIC HEMIPLEGIC, WITH PROGRESSIVE CEREBELLAR ATAXIA ALPHA-1A C-TERMINAL POLYPEPTIDE CACNA1A C-TERMINAL POLYPEPTIDE CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 4 CaV2.1 MIGRAINE, FAMILIAL HEMIPLEGIC 1, WITH PROGRESSIVE CEREBELLAR ATAXIA CACNL1A4 EPISODIC ATAXIA, TYPE 2
cui	C1720416 C4016713 C1832903 C1832884 C4310716 C1832885 C0752124 C1456413
Gene Locus	19p13
Gene Symbol	SCA6 DEE42 CACNL1A4 CACNA1A
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/601011.0020 http://purl.bioontology.org/ontology/OMIM/601011.0029 http://purl.bioontology.org/ontology/OMIM/601011.0027 http://purl.bioontology.org/ontology/OMIM/601011.0024 http://purl.bioontology.org/ontology/OMIM/601011.0023 http://purl.bioontology.org/ontology/OMIM/601011.0028 http://purl.bioontology.org/ontology/OMIM/601011.0026 http://purl.bioontology.org/ontology/OMIM/601011.0021 http://purl.bioontology.org/ontology/OMIM/601011.0022 http://purl.bioontology.org/ontology/OMIM/601011.0025 http://purl.bioontology.org/ontology/OMIM/601011.0017 http://purl.bioontology.org/ontology/OMIM/601011.0014 http://purl.bioontology.org/ontology/OMIM/601011.0013 http://purl.bioontology.org/ontology/OMIM/601011.0015 http://purl.bioontology.org/ontology/OMIM/601011.0012 http://purl.bioontology.org/ontology/OMIM/601011.0010 http://purl.bioontology.org/ontology/OMIM/601011.0019 http://purl.bioontology.org/ontology/OMIM/601011.0018 http://purl.bioontology.org/ontology/OMIM/601011.0011 http://purl.bioontology.org/ontology/OMIM/601011.0016 http://purl.bioontology.org/ontology/OMIM/601011.0032 http://purl.bioontology.org/ontology/OMIM/601011.0033 http://purl.bioontology.org/ontology/OMIM/601011.0031 http://purl.bioontology.org/ontology/OMIM/601011.0030 http://purl.bioontology.org/ontology/OMIM/601011.0035 http://purl.bioontology.org/ontology/OMIM/601011.0036 http://purl.bioontology.org/ontology/OMIM/601011.0034 http://purl.bioontology.org/ontology/OMIM/601011.0037 http://purl.bioontology.org/ontology/OMIM/601011.0006 http://purl.bioontology.org/ontology/OMIM/601011.0003 http://purl.bioontology.org/ontology/OMIM/601011.0009 http://purl.bioontology.org/ontology/OMIM/601011.0004 http://purl.bioontology.org/ontology/OMIM/601011.0008 http://purl.bioontology.org/ontology/OMIM/601011.0001 http://purl.bioontology.org/ontology/OMIM/601011.0005 http://purl.bioontology.org/ontology/OMIM/601011.0002 http://purl.bioontology.org/ontology/OMIM/601011.0007
MIMTYPEMEANING	Gene with known sequence
notation	601011
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	CALCIUM CHANNEL, VOLTAGE-DEPENDENT, P/Q TYPE, ALPHA-1A SUBUNIT
tui	T047 T033 T028

Subscribe to notes emails

Delete	Subject	Author	Type	Created
No notes to display

Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/SNOMEDCT/420932006	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/MESH/C563405	MESH	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/1260329005	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/MSHFRE/D020754	MSHFRE	CUI
http://purl.bioontology.org/ontology/LNC/LP19785-2	LOINC	CUI
http://purl.bioontology.org/ontology/MESH/C535506	MESH	CUI
http://purl.bioontology.org/ontology/SCTSPA/420932006	SCTSPA	CUI
http://purl.bioontology.org/ontology/SCTSPA/1260329005	SCTSPA	CUI
http://purl.bioontology.org/ontology/MESH/C536890	MESH	CUI
http://purl.bioontology.org/ontology/MESH/D020754	MESH	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/715752006	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/SCTSPA/715752006	SCTSPA	CUI
http://www.limics.org/hrdo/rdfns#gen_id_15391	HRDO	LOOM