* Phenotype mapping Key
1 => The disorder is placed on the map based on its association with a gene, but the underlying defect is not known
2 => The disorder has been placed on the map by linkage; no mutation has been found
3 => The molecular basis for the disorder is known; a mutation has been found in the gene
4 => A contiguous gene deletion or duplication syndrome, multiple genes are deleted or duplicated causing the phenotype
Gene Symbol | Chromosomal Location | Gene MIM number | Mapping Method | Phenotype | Phenotype MIM number | Phenotype Mapping Key |
VCP | 9p13.3 | 601023 | REa, A | Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, 167320 (3) | 167320 | 3 |
VCP | 9p13.3 | 601023 | REa, A | Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954 (3) | 613954 | 3 |
VCP | 9p13.3 | 601023 | REa, A | Charcot-Marie-Tooth disease, type 2Y, 616687 (3) | 616687 | 3 |