DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16 ×

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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:	57465
Gene Symbol:	TBC1D24

TBC1D24

CUI:	C3809173
Disease:	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16

0.800

GeneticVariation

CLINVAR

TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus.

28428906

2017

Entrez Id:	57465
Gene Symbol:	TBC1D24

TBC1D24

CUI:	C3809173
Disease:	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16

0.800

GeneticVariation

CLINVAR

Alternating Hemiplegia and Epilepsia Partialis Continua: A new phenotype for a novel compound TBC1D24 mutation.

28292732

2017

Entrez Id:	57465
Gene Symbol:	TBC1D24

TBC1D24

CUI:	C3809173
Disease:	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16

0.800

GeneticVariation

CLINVAR

Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability.

25769375

2015

Entrez Id:	57465
Gene Symbol:	TBC1D24

TBC1D24

CUI:	C3809173
Disease:	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16

0.800

CausalMutation

CLINVAR