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Online Mendelian Inheritance in Man
| Preferred Name | CHOLINERGIC RECEPTOR, NICOTINIC, ALPHA POLYPEPTIDE 1 | |
| Synonyms |
MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL CHRNA ACHRA MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL ACETYLCHOLINE RECEPTOR, MUSCLE, ALPHA SUBUNIT CHRNA1 MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/100690 |
|
| altLabel |
MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL CHRNA ACHRA MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL ACETYLCHOLINE RECEPTOR, MUSCLE, ALPHA SUBUNIT CHRNA1 MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
|
|
| cui |
C4084823 C1854678 C1413401 C4225405
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|
| Gene Locus |
2q24-q32
|
|
| Gene Symbol |
CHRNA1 CMS1A ACHRD CMS1B
|
|
| Has allelic variant |
http://purl.bioontology.org/ontology/OMIM/100690.0011 http://purl.bioontology.org/ontology/OMIM/100690.0013 http://purl.bioontology.org/ontology/OMIM/100690.0010 http://purl.bioontology.org/ontology/OMIM/100690.0015 http://purl.bioontology.org/ontology/OMIM/100690.0016 http://purl.bioontology.org/ontology/OMIM/100690.0012 http://purl.bioontology.org/ontology/OMIM/100690.0014 http://purl.bioontology.org/ontology/OMIM/100690.0009 http://purl.bioontology.org/ontology/OMIM/100690.0001 http://purl.bioontology.org/ontology/OMIM/100690.0007 http://purl.bioontology.org/ontology/OMIM/100690.0006 http://purl.bioontology.org/ontology/OMIM/100690.0005 http://purl.bioontology.org/ontology/OMIM/100690.0002 http://purl.bioontology.org/ontology/OMIM/100690.0008 |
|
| MIMTYPEMEANING |
Gene with known sequence
|
|
| notation |
100690
|
|
| OMIM Entry Type |
1
|
|
| OMIM MimType Value |
star
|
|
| prefLabel |
CHOLINERGIC RECEPTOR, NICOTINIC, ALPHA POLYPEPTIDE 1
|
|
| tui |
T047 T028
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |