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 _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:	C4014780
Disease:	OROFACIODIGITAL SYNDROME XIV

OROFACIODIGITAL SYNDROME XIV

0.700

Biomarker

disease

GENOMICS_ENGLAND

Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function.

27094867

2016

CUI:	C4014780
Disease:	OROFACIODIGITAL SYNDROME XIV

OROFACIODIGITAL SYNDROME XIV

0.700

Biomarker

disease

GENOMICS_ENGLAND

Using the avian mutant talpid2 as a disease model for understanding the oral-facial phenotypes of oral-facial-digital syndrome.

26044959

2015

CUI:	C4014780
Disease:	OROFACIODIGITAL SYNDROME XIV

OROFACIODIGITAL SYNDROME XIV

0.700

GermlineCausalMutation

disease

ORPHANET

The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation.

24997988

2014

CUI:	C4014780
Disease:	OROFACIODIGITAL SYNDROME XIV

OROFACIODIGITAL SYNDROME XIV

0.700

GeneticVariation

disease

UNIPROT

The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation.

24997988

2014

CUI:	C4014780
Disease:	OROFACIODIGITAL SYNDROME XIV

OROFACIODIGITAL SYNDROME XIV

0.700

Biomarker

disease

GENOMICS_ENGLAND

The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation.

24997988

2014

CUI:	C4014780
Disease:	OROFACIODIGITAL SYNDROME XIV

OROFACIODIGITAL SYNDROME XIV

0.700

Biomarker

disease

GENOMICS_ENGLAND

The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation.

24997988

2014

CUI:	C4014780
Disease:	OROFACIODIGITAL SYNDROME XIV

OROFACIODIGITAL SYNDROME XIV

0.700

Biomarker

disease

CTD_human

CUI:	C4014780
Disease:	OROFACIODIGITAL SYNDROME XIV

OROFACIODIGITAL SYNDROME XIV

0.700

Biomarker

disease

GENOMICS_ENGLAND

CUI:	C4014780
Disease:	OROFACIODIGITAL SYNDROME XIV

OROFACIODIGITAL SYNDROME XIV

0.700

CausalMutation

disease

CLINVAR