DisGeNET - a database of gene-disease associations

Source: CURATED

Disease: Bone marrow hypocellularity ×

Gene: EXOC3L2 ×

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:	90332
Gene Symbol:	EXOC3L2

EXOC3L2

CUI:	C1855710
Disease:	Bone marrow hypocellularity

Bone marrow hypocellularity

0.300

Biomarker

GENOMICS_ENGLAND

Biallelic mutations in EXOC3L2 cause a novel syndrome that affects the brain, kidney and blood.

30327448

2019

Entrez Id:	90332
Gene Symbol:	EXOC3L2

EXOC3L2

CUI:	C1855710
Disease:	Bone marrow hypocellularity

Bone marrow hypocellularity

0.300

Biomarker

GENOMICS_ENGLAND

Characterizing the morbid genome of ciliopathies.

27894351

2016