DisGeNET - a database of gene-disease associations

Nonketotic Hyperglycinemia, C0751748

Variant: rs866625610 ×

Source: ALL

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs866625610

AMT

0.700

CausalMutation

CLINVAR

Correction: The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.

29300369

2018

dbSNP:

rs866625610

AMT

0.700

CausalMutation

CLINVAR

The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.

27362913

2017

dbSNP:

rs866625610

AMT

0.700

CausalMutation

CLINVAR

Using whole-exome sequencing to identify inherited causes of autism.

23352163

2013

dbSNP:

rs866625610

AMT

0.700

CausalMutation

CLINVAR

Molecular genetic and potential biochemical characteristics of patients with T-protein deficiency as a cause of glycine encephalopathy (NKH).

12948742

2003

dbSNP:

rs866625610

AMT

0.700

CausalMutation

CLINVAR

Biochemical and molecular investigations of patients with nonketotic hyperglycinemia.

10873393

2000

dbSNP:

rs866625610

AMT

0.700

CausalMutation

CLINVAR

Identification of the mutations in the T-protein gene causing typical and atypical nonketotic hyperglycinemia.

8005589

1994