PRCP, prolylcarboxypeptidase, 5547

N. diseases: 68; N. variants: 7
Disease: Craniorachischisis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0152426
Disease: Craniorachischisis
Craniorachischisis 		0.020 Biomarker disease BEFREE We conclude that missense variants in CELSR1 and SCRIB may represent a cause of CRN in humans, as in mice, with defective PCP protein trafficking to the plasma membrane a likely pathogenic mechanism. 22095531 2012
CUI: C0152426
Disease: Craniorachischisis
Craniorachischisis 		0.020 GeneticVariation disease BEFREE Homozygous disruption of PCP genes in mice results in a spectrum of NTDs, including defects that affect the entire neural axis (craniorachischisis), cranial NTDs (exencephaly) and spina bifida. 21840926 2011