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