AMER1, APC membrane recruitment protein 1, 139285

N. diseases: 134; N. variants: 8
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852216
rs137852216
Entrez Id: 139285
Gene Symbol: AMER1
AMER1
CUI: C0432268
Disease:
Osteopathia striata cranial sclerosis 		A 0.700 CausalMutation CLINVAR First case of osteopathia striata with cranial sclerosis in an adult male with Klinefelter syndrome. 27369646 2017
dbSNP: rs137852217
rs137852217
Entrez Id: 139285
Gene Symbol: AMER1
AMER1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Male child with somatic mosaic Osteopathia Striata with Cranial Sclerosis caused by a novel pathogenic AMER1 frameshift mutation. 28497491 2017
dbSNP: rs137852217
rs137852217
Entrez Id: 139285
Gene Symbol: AMER1
AMER1
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Male child with somatic mosaic Osteopathia Striata with Cranial Sclerosis caused by a novel pathogenic AMER1 frameshift mutation. 28497491 2017
dbSNP: rs137852217
rs137852217
Entrez Id: 139285
Gene Symbol: AMER1
AMER1
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Male child with somatic mosaic Osteopathia Striata with Cranial Sclerosis caused by a novel pathogenic AMER1 frameshift mutation. 28497491 2017
dbSNP: rs137852216
rs137852216
Entrez Id: 139285
Gene Symbol: AMER1
AMER1
CUI: C0432268
Disease:
Osteopathia striata cranial sclerosis 		A 0.700 CausalMutation CLINVAR WTX R353X mutation in a family with osteopathia striata and cranial sclerosis (OS-CS): case report and literature review of the disease clinical, genetic and radiological features. 22716240 2012
dbSNP: rs137852217
rs137852217
Entrez Id: 139285
Gene Symbol: AMER1
AMER1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR The male phenotype in osteopathia striata congenita with cranial sclerosis. 22043478 2011
dbSNP: rs137852217
rs137852217
Entrez Id: 139285
Gene Symbol: AMER1
AMER1
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR The male phenotype in osteopathia striata congenita with cranial sclerosis. 22043478 2011
dbSNP: rs137852217
rs137852217
Entrez Id: 139285
Gene Symbol: AMER1
AMER1
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Two novel WTX mutations underscore the unpredictability of male survival in osteopathia striata with cranial sclerosis. 20950377 2011
dbSNP: rs137852217
rs137852217
Entrez Id: 139285
Gene Symbol: AMER1
AMER1
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR The male phenotype in osteopathia striata congenita with cranial sclerosis. 22043478 2011
dbSNP: rs137852217
rs137852217
Entrez Id: 139285
Gene Symbol: AMER1
AMER1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Two novel WTX mutations underscore the unpredictability of male survival in osteopathia striata with cranial sclerosis. 20950377 2011
dbSNP: rs137852217
rs137852217
Entrez Id: 139285
Gene Symbol: AMER1
AMER1
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Two novel WTX mutations underscore the unpredictability of male survival in osteopathia striata with cranial sclerosis. 20950377 2011
dbSNP: rs137852217
rs137852217
Entrez Id: 139285
Gene Symbol: AMER1
AMER1
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR WTX mutations can occur both early and late in the pathogenesis of Wilms tumour. 20679664 2010
dbSNP: rs137852217
rs137852217
Entrez Id: 139285
Gene Symbol: AMER1
AMER1
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Osteopathia striata with cranial sclerosis owing to WTX gene defect. 20209645 2010
dbSNP: rs137852217
rs137852217
Entrez Id: 139285
Gene Symbol: AMER1
AMER1
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR WTX mutations can occur both early and late in the pathogenesis of Wilms tumour. 20679664 2010
dbSNP: rs137852217
rs137852217
Entrez Id: 139285
Gene Symbol: AMER1
AMER1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Osteopathia striata with cranial sclerosis owing to WTX gene defect. 20209645 2010
dbSNP: rs137852217
rs137852217
Entrez Id: 139285
Gene Symbol: AMER1
AMER1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR WTX mutations can occur both early and late in the pathogenesis of Wilms tumour. 20679664 2010
dbSNP: rs137852217
rs137852217
Entrez Id: 139285
Gene Symbol: AMER1
AMER1
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Osteopathia striata with cranial sclerosis owing to WTX gene defect. 20209645 2010
dbSNP: rs137852216
rs137852216
Entrez Id: 139285
Gene Symbol: AMER1
AMER1
CUI: C0432268
Disease:
Osteopathia striata cranial sclerosis 		A 0.700 CausalMutation CLINVAR Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis. 19079258 2009
dbSNP: rs137852217
rs137852217
Entrez Id: 139285
Gene Symbol: AMER1
AMER1
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis. 19079258 2009
dbSNP: rs137852217
rs137852217
Entrez Id: 139285
Gene Symbol: AMER1
AMER1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis. 19079258 2009
dbSNP: rs137852217
rs137852217
Entrez Id: 139285
Gene Symbol: AMER1
AMER1
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis. 19079258 2009
dbSNP: rs137852217
rs137852217
Entrez Id: 139285
Gene Symbol: AMER1
AMER1
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Osteopathia striata with cranial sclerosis: variable expressivity in a four generation pedigree. 8723089 1996
dbSNP: rs137852217
rs137852217
Entrez Id: 139285
Gene Symbol: AMER1
AMER1
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Osteopathia striata with cranial sclerosis: variable expressivity in a four generation pedigree. 8723089 1996
dbSNP: rs137852217
rs137852217
Entrez Id: 139285
Gene Symbol: AMER1
AMER1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Osteopathia striata with cranial sclerosis: variable expressivity in a four generation pedigree. 8723089 1996
dbSNP: rs137852217
rs137852217
Entrez Id: 139285
Gene Symbol: AMER1
AMER1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Osteopathia striata with cranial sclerosis: Highly variable expression within a family including cleft palate in two neonatal cases. 7004677 1980