DisGeNET - a database of gene-disease associations

Meckel-Gruber syndrome, C0265215

Variant: rs201502401 ×

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:

rs201502401

CC2D2A

0.700

CausalMutation

CLINVAR

Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

26092869

2015

dbSNP:

rs201502401

CC2D2A

0.700

CausalMutation

CLINVAR

Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.

26477546

2015

dbSNP:

rs201502401

CC2D2A

0.700

CausalMutation

CLINVAR

Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.

22425360

2012

dbSNP:

rs201502401

CC2D2A

0.700

CausalMutation

CLINVAR

Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures.

22241855

2012

dbSNP:

rs201502401

CC2D2A

0.700

CausalMutation

CLINVAR

Mutations in TMEM231 cause Joubert syndrome in French Canadians.

23012439

2012

dbSNP:

rs201502401

CC2D2A

0.700

CausalMutation

CLINVAR

CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation.

19777577

2009