DisGeNET - a database of gene-disease associations

C2CD3, C2 domain containing 3 centriole elongation regulator, 26005

N. diseases: 59; N. variants: 7

Disease: OROFACIODIGITAL SYNDROME XIV ×

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

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Disease

Disease Class

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

dbSNP:

rs587777654

rs587777654

1.000

11

74095303

missense variant

A/C;T

snv

4.0E-06

CUI:	C4014780
Disease:	OROFACIODIGITAL SYNDROME XIV

OROFACIODIGITAL SYNDROME XIV

0.800

1.000

2014

2014

dbSNP:

rs1174615027

rs1174615027

1.000

11

74122987

splice donor variant

C/T

snv

4.0E-06

CUI:	C4014780
Disease:	OROFACIODIGITAL SYNDROME XIV

OROFACIODIGITAL SYNDROME XIV

0.700

dbSNP:

rs149366137

rs149366137

1.000

11

74084972

splice acceptor variant

T/A

snv

1.8E-04

1.6E-04

CUI:	C4014780
Disease:	OROFACIODIGITAL SYNDROME XIV

OROFACIODIGITAL SYNDROME XIV

0.700

dbSNP:

rs1565237232

rs1565237232

1.000

11

74057401

splice region variant

C/G

snv

CUI:	C4014780
Disease:	OROFACIODIGITAL SYNDROME XIV

OROFACIODIGITAL SYNDROME XIV

0.700

dbSNP:

rs587777653

rs587777653

0.925

0.160

11

74168485

stop gained

G/A

snv

1.2E-05

CUI:	C4014780
Disease:	OROFACIODIGITAL SYNDROME XIV

OROFACIODIGITAL SYNDROME XIV

0.700