LRP1, LDL receptor related protein 1, 4035

N. diseases: 252; N. variants: 23
Disease: Burnett Schwartz Berberian syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs483353013
rs483353013
Entrez Id: 4035
Gene Symbol: LRP1
LRP1
CUI: C0263428
Disease:
Burnett Schwartz Berberian syndrome 		0.700 GeneticVariation UNIPROT Whole exome sequencing identifies LRP1 as a pathogenic gene in autosomal recessive keratosis pilaris atrophicans. 26142438 2015