Rare disease: Joubert syndrome (Orphanet code 475)
Associated genes:
Name: centrosomal protein 120
Symbol: CEP120
Synonyms: lang: en
text: FLJ36090
GeneType: Name: gene with protein product
Name: progesterone immunomodulatory binding factor 1
Symbol: PIBF1
Synonyms: lang: en
text: CEP90
lang: en
text: PIBF
lang: en
text: progesterone-induced blocking factor 1
GeneType: Name: gene with protein product
Name: OFD1 centriole and centriolar satellite protein
Symbol: OFD1
Synonyms: lang: en
text: 71-7A
lang: en
text: JBTS10
lang: en
text: Joubert syndrome type 10
GeneType: Name: gene with protein product
Name: tectonic family member 3
Symbol: TCTN3
Synonyms: lang: en
text: DKFZP564D116
lang: en
text: JBTS18
lang: en
text: TECT3
GeneType: Name: gene with protein product
Name: phosphodiesterase 6D
Symbol: PDE6D
Synonyms: lang: en
text: JBTS22
lang: en
text: retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit delta
GeneType: Name: gene with protein product
Name: KIAA0753
Symbol: KIAA0753
Synonyms: lang: en
text: MNR
lang: en
text: OFD1 and FOPNL interacting protein
lang: en
text: OFD1 and FOR20 interacting protein
lang: en
text: OFIP
lang: en
text: moonraker
GeneType: Name: gene with protein product
Name: intraflagellar transport 74
Symbol: IFT74
Synonyms: lang: en
text: CMG-1
lang: en
text: CMG1
lang: en
text: FLJ22621
lang: en
text: capillary morphogenesis protein 1
GeneType: Name: gene with protein product
Name: B9 domain containing 2
Symbol: B9D2
Synonyms: lang: en
text: MGC4093
lang: en
text: MKS10
lang: en
text: MKSR-2
GeneType: Name: gene with protein product
Name: tectonic family member 2
Symbol: TCTN2
Synonyms: lang: en
text: FLJ12975
lang: en
text: JBTS24
lang: en
text: MKS8
lang: en
text: Meckel syndrome, type 8
lang: en
text: TECT2
GeneType: Name: gene with protein product
Name: Abelson helper integration site 1
Symbol: AHI1
Synonyms: lang: en
text: FLJ20069
lang: en
text: JBTS3
lang: en
text: Jouberin
lang: en
text: ORF1
GeneType: Name: gene with protein product
Name: transmembrane protein 67
Symbol: TMEM67
Synonyms: lang: en
text: JBTS6
lang: en
text: MGC26979
lang: en
text: Meckelin
lang: en
text: NPHP11
GeneType: Name: gene with protein product
Name: MKS transition zone complex subunit 1
Symbol: MKS1
Synonyms: lang: en
text: BBS13
lang: en
text: FLJ20345
lang: en
text: POC12
lang: en
text: POC12 centriolar protein homolog (Chlamydomonas)
GeneType: Name: gene with protein product
Name: ADP ribosylation factor like GTPase 13B
Symbol: ARL13B
Synonyms: lang: en
text: DKFZp761H079
lang: en
text: JBTS8
GeneType: Name: gene with protein product
Name: inositol polyphosphate-5-phosphatase E
Symbol: INPP5E
Synonyms: lang: en
text: CORS1
lang: en
text: PPI5PIV
lang: en
text: Phosphatidylinositol polyphosphate 5-phosphatase type IV
lang: en
text: pharbin
GeneType: Name: gene with protein product
Name: tectonic family member 1
Symbol: TCTN1
Synonyms: lang: en
text: FLJ21127
lang: en
text: JBTS13
lang: en
text: TECT1
GeneType: Name: gene with protein product
Name: B9 domain containing 1
Symbol: B9D1
Synonyms: lang: en
text: B9
lang: en
text: EPPB9
lang: en
text: MKS9
lang: en
text: MKSR-1
lang: en
text: endothelial precursor protein B9
GeneType: Name: gene with protein product
Name: transmembrane protein 237
Symbol: TMEM237
Synonyms: lang: en
text: JBTS14
GeneType: Name: gene with protein product
Name: centrosomal protein 41
Symbol: CEP41
Synonyms: lang: en
text: DKFZp762H1311
lang: en
text: FLJ22445
lang: en
text: JBTS15
GeneType: Name: gene with protein product
Name: ciliogenesis and planar polarity effector complex subunit 1
Symbol: CPLANE1
Synonyms: lang: en
text: FLJ13231
lang: en
text: Heart Under Glass
lang: en
text: Hug
lang: en
text: JBTS17
GeneType: Name: gene with protein product
Name: centrosome and spindle pole associated protein 1
Symbol: CSPP1
Synonyms: lang: en
text: CSPP
lang: en
text: CSPP-L
lang: en
text: FLJ22490
lang: en
text: JBTS21
GeneType: Name: gene with protein product
Name: KIAA0586
Symbol: KIAA0586
Synonyms: lang: en
text: JBTS23
lang: en
text: Talpid3
GeneType: Name: gene with protein product
Name: centrosomal protein 104
Symbol: CEP104
Synonyms: lang: en
text: CFAP256
lang: en
text: GlyBP
lang: en
text: JBTS25
lang: en
text: ROC22
lang: en
text: RP1-286D6.4
lang: en
text: glycine, glutamate, thienylcyclohexylpiperidine binding protein
GeneType: Name: gene with protein product
Name: katanin interacting protein
Symbol: KATNIP
Synonyms: lang: en
text: JBTS26
lang: en
text: KATNIP
GeneType: Name: gene with protein product
Name: SUFU negative regulator of hedgehog signaling
Symbol: SUFU
Synonyms: lang: en
text: PRO1280
lang: en
text: SUFUH
lang: en
text: SUFUXL
GeneType: Name: gene with protein product
Name: armadillo repeat containing 9
Symbol: ARMC9
Synonyms: lang: en
text: ARM
lang: en
text: FLJ12584
lang: en
text: KIAA1868
lang: en
text: KU-MEL-1
GeneType: Name: gene with protein product
Name: chibby 1, beta catenin antagonist
Symbol: CBY1
Synonyms: lang: en
text: Cby
lang: en
text: Chibby
lang: en
text: Chibby1
lang: en
text: PIGEA-14
lang: en
text: PIGEA14
lang: en
text: chibby CTNNB1-mediated transcription inhibitor
GeneType: Name: gene with protein product
Name: HYLS1 centriolar and ciliogenesis associated
Symbol: HYLS1
Synonyms: lang: en
text: FLJ32915
GeneType: Name: gene with protein product
Name: TOG array regulator of axonemal microtubules 1
Symbol: TOGARAM1
Synonyms: lang: en
text: Crescerin-1
lang: en
text: crescerin
GeneType: Name: gene with protein product
Name: transmembrane protein 218
Symbol: TMEM218
GeneType: Name: gene with protein product
Name: ADP ribosylation factor like GTPase 3
Symbol: ARL3
Synonyms: lang: en
text: ARFL3
GeneType: Name: gene with protein product