DisGeNET - a database of gene-disease associations

Source: CURATED

Disease: Profound global developmental delay ×

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:	2222
Gene Symbol:	FDFT1

FDFT1

farnesyl-diphosphate farnesyltransferase 1

0.621

0.615

4.1E-15

CUI:	C3553450
Disease:	Profound global developmental delay

Profound global developmental delay

disease

0.300

moderate

1.000

0

2018

2018