DisGeNET - a database of gene-disease associations

CC2D2A, coiled-coil and C2 domain containing 2A, 57545

N. diseases: 167; N. variants: 93

Disease: POLYDACTYLY, POSTAXIAL ×

Variant: rs1553827236 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1553827236

rs1553827236

Entrez Id:	57545
Gene Symbol:	CC2D2A

CC2D2A

CUI:	C0220697
Disease:

POLYDACTYLY, POSTAXIAL

A

0.700

CausalMutation

CLINVAR