| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
|
|
G | 0.700 | CausalMutation | CLINVAR | The proteolipid protein gene. | 7541901 | 1995 | ||||||
|
|
|
G | 0.700 | CausalMutation | CLINVAR | Primary progressive multiple sclerosis as a phenotype of a PLP1 gene mutation. | 16130097 | 2005 | ||||||
|
|
|
G | 0.700 | CausalMutation | CLINVAR | Redefining the lipophilin family of proteolipid proteins. | 9418954 | 1997 | ||||||
|
|
|
G | 0.700 | CausalMutation | CLINVAR | Refined genetic mapping and proteolipid protein mutation analysis in X-linked pure hereditary spastic paraplegia. | 8780101 | 1996 | ||||||
|
|
|
G | 0.700 | CausalMutation | CLINVAR | Quantifying the carrier female phenotype in Pelizaeus-Merzbacher disease. | 16778599 | 2006 | ||||||
|
|
|
G | 0.700 | CausalMutation | CLINVAR | PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2. | 15627202 | 2005 | ||||||
|
|
|
G | 0.700 | CausalMutation | CLINVAR | Compensating for central nervous system dysmyelination: females with a proteolipid protein gene duplication and sustained clinical improvement. | 11761472 | 2001 | ||||||
|
|
|
G | 0.700 | CausalMutation | CLINVAR | Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations. Clinical European Network on Brain Dysmyelinating Disease. | 11093273 | 2000 | ||||||
|
|
|
G | 0.700 | CausalMutation | CLINVAR | Neuropathology and genetics of Pelizaeus-Merzbacher disease. | 8520726 | 1995 | ||||||
|
|
|
G | 0.700 | CausalMutation | CLINVAR | Pelizaeus-Merzbacher disease in patients with molecularly confirmed diagnosis. | 27179222 | 2016 | ||||||
|
|
|
G | 0.700 | CausalMutation | CLINVAR | Pelizaeus-Merzbacher syndrome: neurocognitive function in a family with carrier manifestations. | 17568416 | 2007 | ||||||
|
|
|
G | 0.700 | CausalMutation | CLINVAR | Mutation of the proteolipid protein gene PLP in a human X chromosome-linked myelin disorder. | 2479017 | 1989 | ||||||
|
|
|
G | 0.700 | GeneticVariation | CLINVAR | |||||||||
|
|
|
C | 0.700 | CausalMutation | CLINVAR | Pelizaeus-Merzbacher disease in patients with molecularly confirmed diagnosis. | 27179222 | 2016 | ||||||
|
|
|
C | 0.700 | CausalMutation | CLINVAR | PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2. | 15627202 | 2005 | ||||||
|
|
|
C | 0.700 | CausalMutation | CLINVAR | Mutation of the proteolipid protein gene PLP in a human X chromosome-linked myelin disorder. | 2479017 | 1989 | ||||||
|
|
|
C | 0.700 | CausalMutation | CLINVAR | Primary progressive multiple sclerosis as a phenotype of a PLP1 gene mutation. | 16130097 | 2005 | ||||||
|
|
|
C | 0.700 | CausalMutation | CLINVAR | Pelizaeus-Merzbacher syndrome: neurocognitive function in a family with carrier manifestations. | 17568416 | 2007 | ||||||
|
|
|
C | 0.700 | CausalMutation | CLINVAR | Neuropathology and genetics of Pelizaeus-Merzbacher disease. | 8520726 | 1995 | ||||||
|
|
|
C | 0.700 | CausalMutation | CLINVAR | The proteolipid protein gene. | 7541901 | 1995 | ||||||
|
|
|
C | 0.700 | CausalMutation | CLINVAR | Refined genetic mapping and proteolipid protein mutation analysis in X-linked pure hereditary spastic paraplegia. | 8780101 | 1996 | ||||||
|
|
|
C | 0.700 | CausalMutation | CLINVAR | Compensating for central nervous system dysmyelination: females with a proteolipid protein gene duplication and sustained clinical improvement. | 11761472 | 2001 | ||||||
|
|
|
C | 0.700 | CausalMutation | CLINVAR | Redefining the lipophilin family of proteolipid proteins. | 9418954 | 1997 | ||||||
|
|
|
C | 0.700 | CausalMutation | CLINVAR | Quantifying the carrier female phenotype in Pelizaeus-Merzbacher disease. | 16778599 | 2006 | ||||||
|
|
|
C | 0.700 | CausalMutation | CLINVAR | Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations. Clinical European Network on Brain Dysmyelinating Disease. | 11093273 | 2000 |