AMER1, APC membrane recruitment protein 1, 139285

N. diseases: 134; N. variants: 8
Disease: Multiple congenital anomalies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Male child with somatic mosaic Osteopathia Striata with Cranial Sclerosis caused by a novel pathogenic AMER1 frameshift mutation. 28497491 2017
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Two novel WTX mutations underscore the unpredictability of male survival in osteopathia striata with cranial sclerosis. 20950377 2011
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR The male phenotype in osteopathia striata congenita with cranial sclerosis. 22043478 2011
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Osteopathia striata with cranial sclerosis owing to WTX gene defect. 20209645 2010
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR WTX mutations can occur both early and late in the pathogenesis of Wilms tumour. 20679664 2010
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis. 19079258 2009
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Osteopathia striata with cranial sclerosis: variable expressivity in a four generation pedigree. 8723089 1996
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Osteopathia striata with cranial sclerosis: Highly variable expression within a family including cleft palate in two neonatal cases. 7004677 1980