DisGeNET - a database of gene-disease associations

SYCE2, synaptonemal complex central element protein 2, 256126

N. diseases: 6; N. variants: 33

Disease: Glutaric aciduria, type 1 ×

Variant: rs745360675 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs745360675

Entrez Id:	2639;256126
Gene Symbol:	GCDH;SYCE2

GCDH;SYCE2

CUI:	C0268595
Disease:

Glutaric aciduria, type 1

0.700

CausalMutation

CLINVAR

Molecular analysis of Cypriot patients with Glutaric aciduria type I: identification of two novel mutations.

24973495

2014

dbSNP:

rs745360675

Entrez Id:	2639;256126
Gene Symbol:	GCDH;SYCE2

GCDH;SYCE2

CUI:	C0268595
Disease:

Glutaric aciduria, type 1

0.700

CausalMutation

CLINVAR

Mutation analysis in glutaric aciduria type I.

10699052

2000

dbSNP:

rs745360675

Entrez Id:	2639;256126
Gene Symbol:	GCDH;SYCE2

GCDH;SYCE2

CUI:	C0268595
Disease:

Glutaric aciduria, type 1

0.700

CausalMutation

CLINVAR

The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I.

9600243

1998