loading...| Preferred Name | STRUCTURAL MAINTENANCE OF CHROMOSOMES 1A | |
| Synonyms |
SMC1A SMC1L1 STRUCTURAL MAINTENANCE OF CHROMOSOMES 1-LIKE 1 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH MIDLINE BRAIN DEFECTS KIAA0178 SMC1-ALPHA DXS423E DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITHOUT MIDLINE BRAIN DEFECTS CORNELIA DE LANGE SYNDROME 2 SMC1 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/300040 |
|
| altLabel |
SMC1A SMC1L1 STRUCTURAL MAINTENANCE OF CHROMOSOMES 1-LIKE 1 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH MIDLINE BRAIN DEFECTS KIAA0178 SMC1-ALPHA DXS423E DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITHOUT MIDLINE BRAIN DEFECTS CORNELIA DE LANGE SYNDROME 2 SMC1 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS |
|
| cui |
C5393312 C1822777 C5394561 C1802395 C5394560 |
|
| Gene Locus |
Xp11.22-p11.21 |
|
| Gene Symbol |
CDLS2 KIAA0178 SMC1A SMC1 SMC1L1 DEE85 DXS423E |
|
| Has allelic variant |
http://purl.bioontology.org/ontology/OMIM/300040.0014 http://purl.bioontology.org/ontology/OMIM/300040.0012 http://purl.bioontology.org/ontology/OMIM/300040.0015 http://purl.bioontology.org/ontology/OMIM/300040.0011 http://purl.bioontology.org/ontology/OMIM/300040.0010 http://purl.bioontology.org/ontology/OMIM/300040.0013 http://purl.bioontology.org/ontology/OMIM/300040.0007 http://purl.bioontology.org/ontology/OMIM/300040.0003 http://purl.bioontology.org/ontology/OMIM/300040.0006 http://purl.bioontology.org/ontology/OMIM/300040.0008 http://purl.bioontology.org/ontology/OMIM/300040.0002 http://purl.bioontology.org/ontology/OMIM/300040.0009 http://purl.bioontology.org/ontology/OMIM/300040.0005 |
|
| MIMTYPEMEANING |
Gene with known sequence |
|
| Moved from |
600476 |
|
| notation |
300040 |
|
| OMIM Entry Type |
1 |
|
| OMIM MimType Value |
star |
|
| prefLabel |
STRUCTURAL MAINTENANCE OF CHROMOSOMES 1A |
|
| tui |
T047 T028 |