Peripheral neuropathy, with or without impaired intellectual development
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT | C4748283 | MCM3AP | Causal Pathogenic evidence from ClinVar | 24123876, 28633435, 28969388, 29982295 | ClinVar |
| MCM3AP-AS1 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | - | - |