DisGeNET - a database of gene-disease associations

OROFACIODIGITAL SYNDROME VI, C2745997

Variant: rs375009168 ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs375009168

CPLANE1

0.800

GeneticVariation

UNIPROT

Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI.

25846457

2015

dbSNP:

rs375009168

CPLANE1

0.800

GeneticVariation

UNIPROT

Exome sequencing identifies novel mutations in C5orf42 in patients with Joubert syndrome with oral-facial-digital anomalies.

27081551

2015

dbSNP:

rs375009168

CPLANE1

0.800

GeneticVariation

UNIPROT

C5orf42 is the major gene responsible for OFD syndrome type VI.

24178751

2014

dbSNP:

rs375009168

CPLANE1

0.800

GeneticVariation

UNIPROT

Clinical utility gene card for: Joubert syndrome.

21448235

2011

dbSNP:

rs375009168

CPLANE1

0.800

CausalMutation

CLINVAR