loading...| Preferred Name |
NEUROFILAMENT PROTEIN, LIGHT POLYPEPTIDE |
| Synonyms |
CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F |
| ID |
http://purl.bioontology.org/ontology/OMIM/162280 |
| altLabel |
CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G NEUROFILAMENT PROTEIN, LIGHT CHAIN NEFL CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E NF68 NFL |
| cui |
C1843164 C1417668 C1843225 C4693509 |
| Gene Locus |
8p21 |
| Gene Symbol |
CMT1F CMTDIG NEFL CMT2E |
| Has allelic variant |
http://purl.bioontology.org/ontology/OMIM/162280.0004 http://purl.bioontology.org/ontology/OMIM/162280.0001 http://purl.bioontology.org/ontology/OMIM/162280.0006 http://purl.bioontology.org/ontology/OMIM/162280.0002 http://purl.bioontology.org/ontology/OMIM/162280.0009 http://purl.bioontology.org/ontology/OMIM/162280.0007 http://purl.bioontology.org/ontology/OMIM/162280.0008 http://purl.bioontology.org/ontology/OMIM/162280.0010 http://purl.bioontology.org/ontology/OMIM/162280.0011 |
| MIMTYPEMEANING |
Gene with known sequence |
| notation |
162280 |
| OMIM Entry Type |
1 |
| OMIM MimType Value |
star |
| prefLabel |
NEUROFILAMENT PROTEIN, LIGHT POLYPEPTIDE |
| tui |
T028 T047 |