LRP1, LDL receptor related protein 1, 4035

N. diseases: 252; N. variants: 23
Disease: Atrophoderma vermiculatum ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0263429
Disease: Atrophoderma vermiculatum
Atrophoderma vermiculatum 		0.300 GermlineCausalMutation disease ORPHANET Whole exome sequencing identifies LRP1 as a pathogenic gene in autosomal recessive keratosis pilaris atrophicans. 26142438 2015