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Online Mendelian Inheritance in Man
Last uploaded:
August 28, 2024
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| Preferred Name | ATPase, Ca(2+)-TRANSPORTING, TYPE 2C, MEMBER 1 | |
| Synonyms |
SECRETORY PATHWAY Ca(2+) ATPase 1 ATPase, Ca(2+)-SEQUESTERING PMR1, RAT, HOMOLOG OF SPCA1 KIAA1347 ATP2C1 HAILEY-HAILEY DISEASE |
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| ID |
http://purl.bioontology.org/ontology/OMIM/604384 |
|
| altLabel |
SECRETORY PATHWAY Ca(2+) ATPase 1 ATPase, Ca(2+)-SEQUESTERING PMR1, RAT, HOMOLOG OF SPCA1 KIAA1347 ATP2C1 HAILEY-HAILEY DISEASE
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|
| cui |
C0085106 C1421881
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| Gene Locus |
3q21-q24
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|
| Gene Symbol |
ATP2C1 HHD BCPM
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| Has allelic variant |
http://purl.bioontology.org/ontology/OMIM/604384.0002 http://purl.bioontology.org/ontology/OMIM/604384.0005 http://purl.bioontology.org/ontology/OMIM/604384.0001 http://purl.bioontology.org/ontology/OMIM/604384.0009 http://purl.bioontology.org/ontology/OMIM/604384.0004 http://purl.bioontology.org/ontology/OMIM/604384.0003 http://purl.bioontology.org/ontology/OMIM/604384.0006 |
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| MIMTYPEMEANING |
Gene with known sequence
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|
| notation |
604384
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|
| OMIM Entry Type |
1
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|
| OMIM MimType Value |
star
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|
| prefLabel |
ATPase, Ca(2+)-TRANSPORTING, TYPE 2C, MEMBER 1
|
|
| tui |
T047 T028
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