DisGeNET - a database of gene-disease associations

Source: GENOMICS_ENGLAND

Disease: Meckel syndrome type 1 ×

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

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	57545
Gene Symbol:	CC2D2A

CC2D2A

CUI:	C3714506
Disease:	Meckel syndrome type 1

Meckel syndrome type 1

0.370

Biomarker

GENOMICS_ENGLAND

These results confirm the involvement of CC2D2A in MKS and reveal a major contribution of CC2D2A to the disease.

19777577

2009

Entrez Id:	57545
Gene Symbol:	CC2D2A

CC2D2A

CUI:	C3714506
Disease:	Meckel syndrome type 1

Meckel syndrome type 1

0.370

Biomarker

GENOMICS_ENGLAND