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Browse result for childhood-onset neurodegeneration with brain atrophy
※ introduction A neurodegenerative disease characterized by loss of motor and cognitive skills between ages 2 and 7 years with progressive cerebral and cerebellar atrophy, resulting in the inability to walk, absence of language, and profound intellectual disability, that has_material_basis_in heterozygous mutation in the UBTF gene on chromosome 17q21.31.
Reference
DiseaseOntology: childhood-onset neurodegeneration with brain atrophy
Reference
DiseaseOntology: childhood-onset neurodegeneration with brain atrophy
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD00544 | P17480 | 7343 | UBTF | Nucleolar transcription factor 1 | Homo sapiens |
| PTMD03379 | O95202 | 3954 | LETM1 | Mitochondrial proton/calcium exchanger protein /Hexchanger) | Homo sapiens |
| PTMD04585 | P23919 | 1841 | DTYMK | Thymidylate kinase | Homo sapiens |
| PTMD13641 | Q9NX46 | 54936 | ADPRS | ADP-ribosylhydrolase ARH3 glycohydrolase ARH3) | Homo sapiens |
