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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/610100
http://purl.bioontology.org/ontology/OMIM/610100
|
|---|---|
| Preferred Name | GIANT AXONAL NEUROPATHY 2, AUTOSOMAL DOMINANT |
| Synonyms |
GAN2
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | GAN2
|
|---|---|
| prefLabel | GIANT AXONAL NEUROPATHY 2, AUTOSOMAL DOMINANT
|
| Gene Symbol |
WDR42A
GAN2
DCAF8
|
| Scope Statement | One family with a confirmed DCAF8 mutation has been reported (last curated June, 2014) [MISCELLANEOUS]
Foot deformities are present in infancy or childhood [MISCELLANEOUS]
Neurologic features occur in adulthood [MISCELLANEOUS]
Caused by mutation in the DDB1- and CUL4-associated factor 8 gene (DCAF8, 615820.0001). [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 1q23.2
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 610100
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1864695
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |