DisGeNET - a database of gene-disease associations

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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

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	221264
Gene Symbol:	AK9

AK9

CUI:	C0751883
Disease:	Congenital Myasthenic Syndromes, Postsynaptic

Congenital Myasthenic Syndromes, Postsynaptic

0.300

GermlineCausalMutation

ORPHANET

Limb girdle myasthenia with digenic RAPSN and a novel disease gene AK9 mutations.

2017