DisGeNET - a database of gene-disease associations

Gene: FTSJ1 ×

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:	24140
Gene Symbol:	FTSJ1

FTSJ1

CUI:	C2931498
Disease:	Mental Retardation, X-Linked 1

Mental Retardation, X-Linked 1

0.310

GermlineCausalMutation

ORPHANET

A loss-of-function mutation in the FTSJ1 gene causes nonsyndromic X-linked mental retardation in a Japanese family.

2008