LRP1, LDL receptor related protein 1, 4035

N. diseases: 252; N. variants: 23
Disease: Burnett Schwartz Berberian syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0263428
Disease: Burnett Schwartz Berberian syndrome
Burnett Schwartz Berberian syndrome 		0.520 GeneticVariation disease BEFREE Two fetal genomes were found to harbor potentially detrimental variants in chromodomain helicase DNA binding protein 8 (<i>CHD8</i>) and LDL receptor-related protein 1 (<i>LRP1</i>), variations of which have been associated with autism spectrum disorder and keratosis pilaris atrophicans, respectively. 29545257 2018
CUI: C0263428
Disease: Burnett Schwartz Berberian syndrome
Burnett Schwartz Berberian syndrome 		0.520 Biomarker disease BEFREE The inflammatory characteristics of the KPA entity in our family suggest a link to the immune-regulatory functions of LRP1. 26142438 2015
CUI: C0263428
Disease: Burnett Schwartz Berberian syndrome
Burnett Schwartz Berberian syndrome 		0.520 GeneticVariation disease UNIPROT The inflammatory characteristics of the KPA entity in our family suggest a link to the immune-regulatory functions of LRP1. 26142438 2015
CUI: C0263428
Disease: Burnett Schwartz Berberian syndrome
Burnett Schwartz Berberian syndrome 		0.520 Biomarker disease CTD_human