Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4041
Gene Symbol: LRP5
LRP5
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		0.110 GeneticVariation BEFREE A missense mutation 640G-->A (A214T) in the low-density lipoprotein receptor-related protein 5 (LRP5) gene was found in all affected individuals analyzed, including cases in whom craniosynostosis, a mild developmental delay, and/or macrocephaly is observed. 15940380

2005
Entrez Id: 4041
Gene Symbol: LRP5
LRP5
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		0.110 Biomarker HPO