DisGeNET - a database of gene-disease associations

Joubert syndrome 1, C4551568

Variant: rs121918129 ×

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:

rs121918129

INPP5E

0.800

GeneticVariation

UNIPROT

Defective ciliogenesis in INPP5E-related Joubert syndrome.

29052317

2017

dbSNP:

rs121918129

INPP5E

0.800

CausalMutation

CLINVAR

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

26092869

2015

dbSNP:

rs121918129

INPP5E

0.800

GeneticVariation

UNIPROT

The diagnostic utility of exome sequencing in Joubert syndrome and related disorders.

23034536

2013

dbSNP:

rs121918129

INPP5E

0.800

GeneticVariation

UNIPROT

Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.

23386033

2013

dbSNP:

rs121918129

INPP5E

0.800

GeneticVariation

UNIPROT

Clinical utility gene card for: Joubert syndrome.

21448235

2011

dbSNP:

rs121918129

INPP5E

0.800

GeneticVariation

UNIPROT

Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.

19668216

2009