DisGeNET - a database of gene-disease associations

Source: ORPHANET

Disease: Congenital Myasthenic Syndromes, Presynaptic ×

Gene: SLC18A3 ×

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:	6572
Gene Symbol:	SLC18A3

SLC18A3

solute carrier family 18 member A3

0.608

0.654

0.45

CUI:	C0751884
Disease:	Congenital Myasthenic Syndromes, Presynaptic

Congenital Myasthenic Syndromes, Presynaptic

disease

0.500

None

1.000

0

2016

2016