DisGeNET - a database of gene-disease associations

Source: CLINGEN

Gene: GAMT ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Gene Full Name

DSI _g

DPI _g

pLI

Disease

Type

Score _gda

EL_gda

EI _gda

N.PMIDs

N.SNPs _gda

First Ref.

LastRef.

Entrez Id:	2593
Gene Symbol:	GAMT

GAMT

guanidinoacetate N-methyltransferase

0.691

0.269

9.5E-03

CUI:	C0574080
Disease:	Guanidinoacetate methyltransferase deficiency

Guanidinoacetate methyltransferase deficiency

disease

0.940

definitive

1.000

0

1940

2017