G2Cdb::Human Disease report
- Disease id
- D00000155
- Name
- Pelizaeus-Merzbacher disease
- Nervous system disease
- yes
Genes (1)
| Gene | Name/Description | Mutations Found | Literature | Mutations Type | Genetic association? |
|---|---|---|---|---|---|
| G00001806 | PLP1 proteolipid protein 1 |
Y | (1376553) | Polymorphism (P) | ? |
| G00001806 | PLP1 proteolipid protein 1 |
Y | (1376966) | Unknown (?) | Y |
| G00001806 | PLP1 proteolipid protein 1 |
Y | (1720927) | Deletion (D) | Y |
| G00001806 | PLP1 proteolipid protein 1 |
Y | (2480601) | Polymorphism (P) | Y |
| G00001806 | PLP1 proteolipid protein 1 |
Y | (7509234) | Insertion (I) | Y |
| G00001806 | PLP1 proteolipid protein 1 |
Y | (7509235) | Polymorphism (P) | Y |
| G00001806 | PLP1 proteolipid protein 1 |
Y | (7539211) | Polymorphism (P) | Y |
| G00001806 | PLP1 proteolipid protein 1 |
Y | (7539212) | Polymorphism (P) | Y |
| G00001806 | PLP1 proteolipid protein 1 |
Y | (7539213) | Deletion (D) | Y |
| G00001806 | PLP1 proteolipid protein 1 |
Y | (7541731) | Polymorphism (P) | Y |
| G00001806 | PLP1 proteolipid protein 1 |
Y | (7573159) | Microinsertion (MI) | Y |
| G00001806 | PLP1 proteolipid protein 1 |
Y | (7679906) | Polymorphism (P) | Y |
| G00001806 | PLP1 proteolipid protein 1 |
Y | (7684886) | Microinsertion (MI) | Y |
| G00001806 | PLP1 proteolipid protein 1 |
Y | (7684945) | Frameshift mutation (FS) | Y |
| G00001806 | PLP1 proteolipid protein 1 |
Y | (8786077) | Polymorphism (P) | Y |
| G00001806 | PLP1 proteolipid protein 1 |
Y | (9008538) | Polymorphism (P) | Y |
| G00001806 | PLP1 proteolipid protein 1 |
Y | (9056547) | Nonsense (No) | Y |
| G00001806 | PLP1 proteolipid protein 1 |
Y | (9106132) | Unknown (?) | Y |
| G00001806 | PLP1 proteolipid protein 1 |
Y | (9268109) | Nonsense (No) | Y |
| G00001806 | PLP1 proteolipid protein 1 |
Y | (9633722) | Duplication (Du) | Y |
| G00001806 | PLP1 proteolipid protein 1 |
Y | (9934976) | Polymorphism (P) | Y |
| G00001806 | PLP1 proteolipid protein 1 |
Y | (10401787) | Deletion (D) | Y |
| G00001806 | PLP1 proteolipid protein 1 |
Y | (10425042) | Single nucleotide polymorphism (SNP) | Y |
| G00001806 | PLP1 proteolipid protein 1 |
Y | (10588103) | Microinsertion (MI) | Y |
| G00001806 | PLP1 proteolipid protein 1 |
Y | (10588103) | Duplication (Du) | Y |
| G00001806 | PLP1 proteolipid protein 1 |
Y | (10827108) | Duplication (Du) | Y |
| G00001806 | PLP1 proteolipid protein 1 |
Y | (11071483) | Polymorphism (P) | Y |
| G00001806 | PLP1 proteolipid protein 1 |
Y | (11139261) | Deletion (D) | Y |
| G00001806 | PLP1 proteolipid protein 1 |
Y | (11180600) | Unknown (?) | Y |
| G00001806 | PLP1 proteolipid protein 1 |
Y | (11536268) | Duplication (Du) | Y |
| G00001806 | PLP1 proteolipid protein 1 |
Y | (11786921) | Microinsertion (MI) | Y |
| G00001806 | PLP1 proteolipid protein 1 |
Y | (11787038) | Duplication (Du) | Y |
| G00001806 | PLP1 proteolipid protein 1 |
Y | (12601703) | Polymorphism (P) | Y |
| G00001806 | PLP1 proteolipid protein 1 |
Y | (12605435) | Insertion (I) | Y |
| G00001806 | PLP1 proteolipid protein 1 |
Y | (12605435) | Deletion (D) | Y |
| G00001806 | PLP1 proteolipid protein 1 |
Y | (12891682) | Deletion (D) | Y |
| G00001806 | PLP1 proteolipid protein 1 |
Y | (14533091) | Deletion (D) | Y |
| G00001806 | PLP1 proteolipid protein 1 |
Y | (15689360) | Duplication (Du) | Y |
| G00001806 | PLP1 proteolipid protein 1 |
Y | (15712223) | Microinsertion (MI) | Y |
| G00001806 | PLP1 proteolipid protein 1 |
Y | (15712223) | Duplication (Du) | Y |
| G00001806 | PLP1 proteolipid protein 1 |
Y | (15712223) | Deletion (D) | Y |
| G00001806 | PLP1 proteolipid protein 1 |
Y | (15837131) | Single nucleotide polymorphism (SNP) | Y |
| G00001806 | PLP1 proteolipid protein 1 |
Y | (16380909) | Duplication (Du) | Y |
| G00001806 | PLP1 proteolipid protein 1 |
Y | (16416265) | Duplication (Du) | Y |
| G00001806 | PLP1 proteolipid protein 1 |
Y | (16416265) | Deletion (D) | Y |