PLP1, proteolipid protein 1, 5354

N. diseases: 160; N. variants: 43
Disease: Dysmorphic features ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Pelizaeus-Merzbacher disease in patients with molecularly confirmed diagnosis. 27179222 2016
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Pelizaeus-Merzbacher syndrome: neurocognitive function in a family with carrier manifestations. 17568416 2007
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Quantifying the carrier female phenotype in Pelizaeus-Merzbacher disease. 16778599 2006
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2. 15627202 2005
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Primary progressive multiple sclerosis as a phenotype of a PLP1 gene mutation. 16130097 2005
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Compensating for central nervous system dysmyelination: females with a proteolipid protein gene duplication and sustained clinical improvement. 11761472 2001
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations. Clinical European Network on Brain Dysmyelinating Disease. 11093273 2000
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Redefining the lipophilin family of proteolipid proteins. 9418954 1997
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Refined genetic mapping and proteolipid protein mutation analysis in X-linked pure hereditary spastic paraplegia. 8780101 1996
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Neuropathology and genetics of Pelizaeus-Merzbacher disease. 8520726 1995
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR The proteolipid protein gene. 7541901 1995
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Mutation of the proteolipid protein gene PLP in a human X chromosome-linked myelin disorder. 2479017 1989