DisGeNET - a database of gene-disease associations

Source: ORPHANET

Disease: Meckel-Gruber syndrome ×

Gene: CC2D2A ×

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:	57545
Gene Symbol:	CC2D2A

CC2D2A

coiled-coil and C2 domain containing 2A

0.532

0.692

1.7E-27

CUI:	C0265215
Disease:	Meckel-Gruber syndrome

Meckel-Gruber syndrome

disease

0.430

None

1.000

0

2008

2019