DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Multiple congenital anomalies ×

Variant: rs137852217 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs137852217

AMER1

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

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

AMER1

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.700

CausalMutation

CLINVAR

Two novel WTX mutations underscore the unpredictability of male survival in osteopathia striata with cranial sclerosis.

20950377

2011

dbSNP:

rs137852217

AMER1

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.700

CausalMutation

CLINVAR

The male phenotype in osteopathia striata congenita with cranial sclerosis.

22043478

2011

dbSNP:

rs137852217

AMER1

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.700

CausalMutation

CLINVAR

Osteopathia striata with cranial sclerosis owing to WTX gene defect.

20209645

2010

dbSNP:

rs137852217

AMER1

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.700

CausalMutation

CLINVAR

WTX mutations can occur both early and late in the pathogenesis of Wilms tumour.

20679664

2010

dbSNP:

rs137852217

AMER1

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.700

CausalMutation

CLINVAR

Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis.

19079258

2009

dbSNP:

rs137852217

AMER1

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.700

CausalMutation

CLINVAR

Osteopathia striata with cranial sclerosis: variable expressivity in a four generation pedigree.

8723089

1996

dbSNP:

rs137852217

AMER1

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.700

CausalMutation

CLINVAR

Osteopathia striata with cranial sclerosis: Highly variable expression within a family including cleft palate in two neonatal cases.

7004677

1980