Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
Preferred Name

STRUCTURAL MAINTENANCE OF CHROMOSOMES 1A

Synonyms

SMC1A

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

http://purl.bioontology.org/ontology/OMIM/300040.0004

http://purl.bioontology.org/ontology/OMIM/300040.0001

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

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