DisGeNET - a database of gene-disease associations

Source: CURATED

Disease: Profound global developmental delay ×

Gene: FDFT1 ×

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:	2222
Gene Symbol:	FDFT1

FDFT1

CUI:	C3553450
Disease:	Profound global developmental delay

Profound global developmental delay

0.300

Biomarker

GENOMICS_ENGLAND

Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis.

29909962

2018

Entrez Id:	2222
Gene Symbol:	FDFT1