DisGeNET - a database of gene-disease associations

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

N. diseases: 167; N. variants: 93

Disease: Seizures ×

Source: ALL

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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

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C0036572
Disease:	Seizures

Seizures

0.110

Biomarker

phenotype

BEFREE

Patients with CC2D2A-related JS should be monitored for hydrocephalus and seizures.

2012

CUI:	C0036572
Disease:	Seizures

Seizures

0.110

Biomarker

phenotype

HPO