Statements (17)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:gene
|
gptkbp:associatedWith |
gptkb:Charcot-Marie-Tooth_disease_type_2K
gptkb:Charcot-Marie-Tooth_disease_type_4A |
gptkbp:encodes |
gptkb:GDAP1_protein
|
gptkbp:Entrez_Gene_ID |
54332
|
gptkbp:fullName |
gptkb:ganglioside_induced_differentiation_associated_protein_1
|
gptkbp:function |
involved in neuronal development
involved in mitochondrial fission |
gptkbp:HGNC_ID |
16857
|
https://www.w3.org/2000/01/rdf-schema#label |
GDAP1
|
gptkbp:locatedOnChromosome |
8q21.11
|
gptkbp:mutationAssociatedWith |
peripheral neuropathy
|
gptkbp:OMIM |
606598
|
gptkbp:species |
gptkb:Homo_sapiens
|
gptkbp:UniProtID |
Q8TB36
|
gptkbp:bfsParent |
gptkb:Charcot-Marie-Tooth_disease
|
gptkbp:bfsLayer |
6
|