DisGeNET - a database of gene-disease associations

Source: INFERRED

Disease: RUBINSTEIN-TAYBI SYNDROME 1 ×

Gene: EP300 ×

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

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	2033
Gene Symbol:	EP300

EP300

CUI:	C4551859
Disease:	RUBINSTEIN-TAYBI SYNDROME 1

RUBINSTEIN-TAYBI SYNDROME 1

0.400

GeneticVariation

CLINVAR

Entrez Id:	2033
Gene Symbol:	EP300

EP300

CUI:	C4551859
Disease:	RUBINSTEIN-TAYBI SYNDROME 1

RUBINSTEIN-TAYBI SYNDROME 1

0.400

CausalMutation

CLINVAR