DisGeNET - a database of gene-disease associations

Nonketotic Hyperglycinemia, C0751748

Variant: rs386833517 ×

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:

rs386833517

GLDC

0.700

CausalMutation

CLINVAR

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

27362913

2017

dbSNP:

rs386833517

GLDC

0.700

CausalMutation

CLINVAR

RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

25525159

2015

dbSNP:

rs386833517

GLDC

0.700

CausalMutation

CLINVAR

Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia.

26179960

2015

dbSNP:

rs386833517

GLDC

0.700

CausalMutation

CLINVAR

Genetic heterogeneity of the GLDC gene in 28 unrelated patients with glycine encephalopathy.

16601880

2006

dbSNP:

rs386833517

GLDC

0.700

GeneticVariation

CLINVAR