Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1556267123
rs1556267123
PLP1 ; RAB9B
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR Pelizaeus-Merzbacher disease in patients with molecularly confirmed diagnosis. 27179222

2016
dbSNP: rs1556267123
rs1556267123
PLP1 ; RAB9B
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR Pelizaeus-Merzbacher syndrome: neurocognitive function in a family with carrier manifestations. 17568416

2007
dbSNP: rs1556267123
rs1556267123
PLP1 ; RAB9B
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR Quantifying the carrier female phenotype in Pelizaeus-Merzbacher disease. 16778599

2006
dbSNP: rs1556267123
rs1556267123
PLP1 ; RAB9B
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR Primary progressive multiple sclerosis as a phenotype of a PLP1 gene mutation. 16130097

2005
dbSNP: rs1556267123
rs1556267123
PLP1 ; RAB9B
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2. 15627202

2005
dbSNP: rs1556267123
rs1556267123
PLP1 ; RAB9B
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR Compensating for central nervous system dysmyelination: females with a proteolipid protein gene duplication and sustained clinical improvement. 11761472

2001
dbSNP: rs1556267123
rs1556267123
PLP1 ; RAB9B
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		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
dbSNP: rs1556267123
rs1556267123
PLP1 ; RAB9B
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR Redefining the lipophilin family of proteolipid proteins. 9418954

1997
dbSNP: rs1556267123
rs1556267123
PLP1 ; RAB9B
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR Refined genetic mapping and proteolipid protein mutation analysis in X-linked pure hereditary spastic paraplegia. 8780101

1996
dbSNP: rs1556267123
rs1556267123
PLP1 ; RAB9B
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR The proteolipid protein gene. 7541901

1995
dbSNP: rs1556267123
rs1556267123
PLP1 ; RAB9B
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR Neuropathology and genetics of Pelizaeus-Merzbacher disease. 8520726

1995
dbSNP: rs1556267123
rs1556267123
PLP1 ; RAB9B
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR Mutation of the proteolipid protein gene PLP in a human X chromosome-linked myelin disorder. 2479017

1989