Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
ISOLATED JOUBERT SYNDROME	475	AHI1	Unknown	22693042	Orphanet	Anchoring of the basal body to the plasma membrane
		ARL13B	Unknown	18674751 20301500	Orphanet	ARL13B-mediated ciliary trafficking of INPP5E Aggrephagy
		ARL3	Unknown	30269812	Orphanet	Trafficking of myristoylated proteins to the cilium
		ARMC9	Unknown	28625504	Orphanet	—
		B9D1	Unknown	24886560	Orphanet	Anchoring of the basal body to the plasma membrane
		B9D2	Unknown	26092869	Orphanet	Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal Separation of Sister Chromatids Resolution of Sister Chromatid Cohesion +4 more
		CBY1	Unknown	33131181	Orphanet	Wnt signaling pathway Deactivation of the beta-catenin transactivating complex
		CEP104	Unknown	26477546	Orphanet	—
		CEP120	Unknown	27208211	Orphanet	—
		CEP41	Unknown	22246503	Orphanet	Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes +4 more
		CPLANE1	Unknown	22425360 22693042	Orphanet	—
		CSPP1	Unknown	24360803 24360808	Orphanet	—
		HYLS1	Unknown	26830932	Orphanet	—
		IFT74	Unknown	33531668	Orphanet	Intraflagellar transport
		INPP5E	Unknown	19668216	Orphanet	Inositol phosphate metabolism Metabolic pathways Phosphatidylinositol signaling system +2 more
		KATNIP	Unknown	26714646	Orphanet	—
		KIAA0586	Unknown	26096313	Orphanet	—
		KIAA0753	Unknown	28220259	Orphanet	—
		MKS1	Unknown	24886560	Orphanet	Hedgehog 'off' state Anchoring of the basal body to the plasma membrane
		OFD1	Unknown	19800048	Orphanet	Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes +5 more
		PDE6D	Unknown	24166846	Orphanet	Purine metabolism Metabolic pathways ARL13B-mediated ciliary trafficking of INPP5E
		PIBF1	Unknown	26167768	Orphanet	—
		SUFU	Unknown	33024317	Orphanet	Hedgehog signaling pathway Pathways in cancer Basal cell carcinoma +4 more
		TCTN1	Unknown	20301500 21725307	Orphanet	Anchoring of the basal body to the plasma membrane
		TCTN2	Unknown	21565611	Orphanet	Anchoring of the basal body to the plasma membrane
		TCTN3	Unknown	22883145	Orphanet	Anchoring of the basal body to the plasma membrane
		TMEM218	Unknown	33791682	Orphanet	—
		TMEM237	Unknown	22152675 22693042	Orphanet	—
		TMEM67	Unknown	17160906	Orphanet	Anchoring of the basal body to the plasma membrane
		TOGARAM1	Unknown	32453716	Orphanet	—
JOUBERT SYNDROME	MONDO:0018772PS213300	ARL3	Unknown	30269812	GWAS catalog	Trafficking of myristoylated proteins to the cilium
		CEP104	Unknown	26477546	GWAS catalog	—
		CEP120	Unknown	27208211	GWAS catalog	—
		CEP41	Unknown	22246503	CTD, ClinVar	Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes +4 more
		HYLS1	Unknown	26830932	GWAS catalog	—
		SLC30A7	Unknown	35751429	GWAS catalog	—
		SUFU	Unknown	—	GenCC	Hedgehog signaling pathway Pathways in cancer Basal cell carcinoma +4 more
		TCTN3	Unknown	—	ClinVar	Anchoring of the basal body to the plasma membrane
		TMEM138	Unknown	—	ClinVar	—
		TMEM231	Unknown	—	ClinVar	—
		TTC21B	Unknown	—	ClinVar	Hedgehog 'off' state Intraflagellar transport
JOUBERT SYNDROME 1	C4551568	KATNIP	Unknown	—	Disgenet	—
		TCTN1	Unknown	—	Disgenet	Anchoring of the basal body to the plasma membrane
		TTC21B	Unknown	—	Disgenet	Hedgehog 'off' state Intraflagellar transport
JOUBERT SYNDROME 12/15, DIGENIC	C3280899	CEP41	Unknown	—	Disgenet	Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes +4 more
JOUBERT SYNDROME 21	C3810212	ARFGEF1	Unknown	—	Disgenet	Endocytosis
JOUBERT SYNDROME 24	C4084841	LMOD3	Unknown	—	Disgenet	Cytoskeleton in muscle cells
JOUBERT SYNDROME 36	C5231493	DNAJC9	Unknown	—	Disgenet	—
JOUBERT SYNDROME 4	C1846790 609583 MESH:C536296	AHI1	Unknown	—	Disgenet	Anchoring of the basal body to the plasma membrane
		NPHP1	Unknown	—	CTD, Disgenet, HPO	Anchoring of the basal body to the plasma membrane
		NPHP4	Unknown	—	Disgenet	Signaling by Hippo Anchoring of the basal body to the plasma membrane
		RPGRIP1L	Unknown	—	Disgenet	Hedgehog 'off' state Anchoring of the basal body to the plasma membrane
		TMEM237	Unknown	—	Disgenet	—
JOUBERT SYNDROME 5	C1857780	RLIG1	Unknown	—	Disgenet	—
JOUBERT SYNDROME 7	C1969053	RPGRIP1	Unknown	—	Disgenet	—
JOUBERT SYNDROME 9	C2676788	CAV3	Unknown	—	Disgenet	Endocytosis Focal adhesion Prion disease +8 more
		OXTR	Unknown	—	Disgenet	Calcium signaling pathway cAMP signaling pathway Neuroactive ligand-receptor interaction +4 more
		SMAD6	Unknown	—	Disgenet	TGF-beta signaling pathway Signaling by BMP RUNX2 regulates bone development
JOUBERT SYNDROME 9/15, DIGENIC	C3280898	CEP41	Unknown	—	Disgenet	Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes +4 more
JOUBERT SYNDROME WITH HEPATIC DEFECT	1454	CC2D2A	Unknown	19574260 20301500	Orphanet	Anchoring of the basal body to the plasma membrane
		INPP5E	Unknown	19668216 20301500	Orphanet	Inositol phosphate metabolism Metabolic pathways Phosphatidylinositol signaling system +2 more
		RPGRIP1L	Unknown	19574260 20301500	Orphanet	Hedgehog 'off' state Anchoring of the basal body to the plasma membrane
		TMEM67	Unknown	17160906 19574260 20301500 20615230	Orphanet	Anchoring of the basal body to the plasma membrane
JOUBERT SYNDROME WITH JEUNE ASPHYXIATING THORACIC DYSTROPHY	397715 MONDO:0018342 C4518774	CSPP1	Unknown	24360808 24360807 24360803	HPO, Orphanet, Disgenet	—
JOUBERT SYNDROME WITH JEUNE ASPHYXIATING THORACIC DYSTROPHY	397715 MONDO:0018342 C4518774	KIAA0586	Unknown	26026149 26096313 26166481 26386044 26437029 30120217 32080096 36538006	Disgenet, GWAS catalog, Orphanet	—
JOUBERT SYNDROME WITH OCULAR DEFECT	220493 MONDO:0016364 C4274118	CEP120	Unknown	27208211 25361962	Disgenet, Orphanet	—
		CEP41	Unknown	20301500 22246503	ClinVar, Orphanet, Disgenet	Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes +4 more
		INPP5E	Unknown	19668216 20301500 23386033 19668215 23022135 27401686 29052317	Disgenet, Orphanet	Inositol phosphate metabolism Metabolic pathways Phosphatidylinositol signaling system +2 more
		MKS1	Unknown	24886560 16415886 17437276 26490104 18327255	Disgenet, GenCC, Orphanet	Hedgehog 'off' state Anchoring of the basal body to the plasma membrane
JOUBERT SYNDROME WITH OCULORENAL DEFECT	2318 MONDO:0009480	CC2D2A	Unknown	20301500	HPO, Orphanet	Anchoring of the basal body to the plasma membrane
		CEP290	Unknown	20301500 20615230	GWAS catalog, Orphanet	Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes +5 more
		TMEM138	Unknown	22282472	CTD, Orphanet	—
		TMEM216	Unknown	20301500	GWAS catalog, Orphanet	Anchoring of the basal body to the plasma membrane
		TMEM231	Unknown	20301500 23012439	GWAS catalog, Orphanet	—
		TMEM237	Unknown	20301500 22152675	Disgenet, Orphanet	—
		ZNF423	Unknown	22863007	CTD, Orphanet	—
JOUBERT SYNDROME WITH RENAL DEFECT	220497 C4274117 MONDO:0012308	RPGRIP1L	Unknown	20301500 20615230	Disgenet, Orphanet	Hedgehog 'off' state Anchoring of the basal body to the plasma membrane
JOUBERT SYNDROME WITH RENAL DEFECT	220497 C4274117 MONDO:0012308	TMEM237	Unknown	20301500 22152675	Disgenet, GWAS catalog, Orphanet	—

Joubert syndrome

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