GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version
Joubert Syndrome  
Disease Aliases (19)

Cerebellooculorenal syndrome 1

Cerebelloparenchymal disorder iv

Cors1

Cpd iv

Cpd4

Cerebellar vermis agenesis

Cerebelloparenchymal disorder 4

Classic joubert syndrome

Inpp5e joubert syndrome

Jbts

Jbts1

Joubert syndrome

Joubert-boltshauser syndrome

Joubert syndrome 1

Joubert syndrome 1; jbts1

Joubert syndrome caused by mutation in inpp5e

Joubert syndrome type 1

Joubert syndrome type a

Pure joubert syndrome

Associated Genes (22)
 

NCBI-RefSeq:  CEP120   (Centrosomal protein 120)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  HYLS1   (HYLS1 centriolar and ciliogenesis associated)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  CSPP1   (Centrosome and spindle pole associated protein 1)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  TCTN1   (Tectonic family member 1)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  CPLANE1   (Ciliogenesis and planar polarity effector complex subunit 1)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  TCTN2   (Tectonic family member 2)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  ARL13B   (ADP ribosylation factor like GTPase 13B)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  CEP104   (Centrosomal protein 104)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  B9D1   (B9 domain containing 1)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  PIBF1   (Progesterone immunomodulatory binding factor 1)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  AHI1   (Abelson helper integration site 1)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  INPP5E   (Inositol polyphosphate-5-phosphatase E)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  ARMC9   (Armadillo repeat containing 9)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  KIAA0586   (KIAA0586)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  SUFU   (SUFU negative regulator of hedgehog signaling)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  TMEM237   (Transmembrane protein 237)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  CBY1   (Chibby family member 1, beta catenin antagonist)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  CEP41   (Centrosomal protein 41)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  MKS1   (MKS transition zone complex subunit 1)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  ARL3   (ADP ribosylation factor like GTPase 3)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  KATNIP   (Katanin interacting protein)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  TMEM67   (Transmembrane protein 67)

External Links:  gnomAD browser   Ensembl   GeneCards

 


Cross-references of Joubert syndrome OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations