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	AHI1	Causal	22693042	Disgenet	Anchoring of the basal body to the plasma membrane
		ARL13B	Causal	17488627 18674751 23150559 25138100 26092869 27491411 27894351 29255182	ClinGen, GWAS catalog	ARL13B-mediated ciliary trafficking of INPP5E Aggrephagy
		ARMC9	Causal	28625504	GWAS catalog	—
		B9D1	Causal	24886560	GWAS catalog	Anchoring of the basal body to the plasma membrane
		CBY1	Causal	33131181	GWAS catalog	Wnt signaling pathway Deactivation of the beta-catenin transactivating complex
		CPLANE1	Causal	22425360 22693042	ClinGen, ClinVar	—
		CSPP1	Causal	24360808 24360803	GWAS catalog	—
		INPP5E	Causal	19668216	GWAS catalog	Inositol phosphate metabolism Metabolic pathways Phosphatidylinositol signaling system +2 more
		KATNIP	Causal	26714646	HPO	—
		KIAA0586	Causal	26096313	GWAS catalog	—
		MKS1	Causal	24886560	GWAS catalog	Hedgehog 'off' state Anchoring of the basal body to the plasma membrane
		PIBF1	Causal	26167768	GWAS catalog	—
		RPGRIP1L	Causal	—	ClinVar	Hedgehog 'off' state Anchoring of the basal body to the plasma membrane
		TCTN1	Causal	21725307 20301500	ClinGen	Anchoring of the basal body to the plasma membrane
		TCTN2	Causal	21565611	ClinVar, GWAS catalog	Anchoring of the basal body to the plasma membrane
		TMEM237	Causal	22693042 22152675	ClinVar, Disgenet	—
		TMEM67	Causal	17160906	Disgenet	Anchoring of the basal body to the plasma membrane
		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 213300 MONDO:0008944	AHI1	Causal	—	Disgenet	Anchoring of the basal body to the plasma membrane
		CC2D2A	Causal	—	Disgenet	Anchoring of the basal body to the plasma membrane
		CEP290	Causal	—	Disgenet	Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes +5 more
		CPLANE1	Causal	—	Disgenet	—
		INPP5E	Causal	19668216	ClinGen, ClinVar, Disgenet, HPO	Inositol phosphate metabolism Metabolic pathways Phosphatidylinositol signaling system +2 more
		MICALL2	Causal	—	Disgenet	Tight junction
		SLC30A7	Causal	35751429	Disgenet	—
		TMEM67	Causal	—	Disgenet	Anchoring of the basal body to the plasma membrane
		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 10	C2749019 300804 MESH:C567582 MONDO:0010431	CC2D2A	Causal	—	Disgenet	Anchoring of the basal body to the plasma membrane
JOUBERT SYNDROME 10	C2749019 300804 MESH:C567582 MONDO:0010431	OFD1	Causal	16783569 22353940 19800048	CTD, ClinVar, Disgenet, GWAS catalog, HPO	Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes +5 more
JOUBERT SYNDROME 12	C3277723	KIF7	Causal	—	Disgenet	Hedgehog signaling pathway Motor proteins Pathways in cancer +3 more
JOUBERT SYNDROME 12/15, DIGENIC	C3280899	KIF7	Causal	—	Disgenet	Hedgehog signaling pathway Motor proteins Pathways in cancer +3 more
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 13	614173 C3280031 MONDO:0013608	TCTN1	Causal	—	ClinVar, Disgenet, GenCC, HPO	Anchoring of the basal body to the plasma membrane
JOUBERT SYNDROME 14	614424 C3280766 MONDO:0013745	TMEM237	Causal	14760273 22152675 17603801	ClinGen, ClinVar, Disgenet, GWAS catalog, HPO	—
JOUBERT SYNDROME 15	614464 C3280897 MONDO:0013763	CEP41	Causal	22246503	ClinVar, Disgenet, HPO	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 16	614465 C3280906 MONDO:0013764	TMEM138	Causal	22282472 26489029	ClinVar, Disgenet, GWAS catalog, HPO	—
JOUBERT SYNDROME 17	614615 C3553264 MONDO:0013824	CPLANE1	Causal	—	ClinGen, ClinVar, Disgenet, GenCC, HPO	—
JOUBERT SYNDROME 18	614815 C3553758 MONDO:0013896	TCTN3	Causal	22883145 25118024 2692869 27081510	ClinVar, Disgenet, HPO	Anchoring of the basal body to the plasma membrane
JOUBERT SYNDROME 19	C3553846	ZNF423	Causal	—	Disgenet	—
JOUBERT SYNDROME 2	608091 C1842577 MESH:C536294 MONDO:0011963	TMEM216	Causal	20036350 20512146	CTD, ClinVar, Disgenet, GWAS catalog, HPO	Anchoring of the basal body to the plasma membrane
JOUBERT SYNDROME 20	614970 C3554235 MONDO:0013994	TMEM231	Causal	23012439 23349226	ClinVar, Disgenet, GWAS catalog, HPO	—
JOUBERT SYNDROME 21	615636 C3810212 MONDO:0014288	CSPP1	Causal	24360808 25997910 24360803 24360807	ClinGen, ClinVar, Disgenet, HPO	—
JOUBERT SYNDROME 21	615636 C3810212 MONDO:0014288	ARFGEF1	Unknown	—	Disgenet	Endocytosis
JOUBERT SYNDROME 22	615665 C3810278 MONDO:0014297	PDE6D	Causal	17496142 23150559 24166846	ClinVar, Disgenet, GenCC, HPO	Purine metabolism Metabolic pathways ARL13B-mediated ciliary trafficking of INPP5E
JOUBERT SYNDROME 23	616490 C4084822 MONDO:0014664	KIAA0586	Causal	26026149 26437029 26096313 26166481 26386044 30120217 32080096 36538006	ClinVar, Disgenet, GWAS catalog, HPO	—
JOUBERT SYNDROME 24	616654 C4084841 MONDO:0014724	TCTN2	Causal	21462283 21565611 21725307 25118024 32655147	ClinGen, ClinVar, Disgenet, GWAS catalog, HPO	Anchoring of the basal body to the plasma membrane
JOUBERT SYNDROME 24	616654 C4084841 MONDO:0014724	LMOD3	Unknown	—	Disgenet	Cytoskeleton in muscle cells
JOUBERT SYNDROME 25	616781 C4084842 MONDO:0014770	CEP104	Causal	26477546	ClinVar, Disgenet, GWAS catalog, HPO	—
JOUBERT SYNDROME 26	616784 C4084843 MONDO:0014771	KATNIP	Causal	26714646 27245168	ClinVar, Disgenet, HPO	—
JOUBERT SYNDROME 27	617120 C4310706 MONDO:0014927	B9D1	Causal	21493627	ClinVar, Disgenet, GWAS catalog, HPO	Anchoring of the basal body to the plasma membrane
JOUBERT SYNDROME 28	617121 C4310705 MONDO:0014928	MKS1	Causal	17397051 24886560 26490104 28497568	ClinVar, Disgenet, HPO	Hedgehog 'off' state Anchoring of the basal body to the plasma membrane
JOUBERT SYNDROME 29	C4539715	TMEM107	Causal	—	Disgenet	—
JOUBERT SYNDROME 3	608629 C1837713 MESH:C536295 MONDO:0012078	AHI1	Causal	—	CTD, ClinGen, ClinVar, Disgenet, GenCC, HPO	Anchoring of the basal body to the plasma membrane
JOUBERT SYNDROME 30	617622 C4539937 MONDO:0033308	ARMC9	Causal	28625504	ClinGen, ClinVar, Disgenet, GWAS catalog, HPO	—
JOUBERT SYNDROME 31	617761 C4540355 MONDO:0033310	CEP120	Causal	25251415 27208211 476410	CTD, ClinVar, Disgenet, HPO	—
JOUBERT SYNDROME 32	617757 C4540342 MONDO:0033309	SUFU	Causal	28965847	ClinVar, Disgenet, HPO	Hedgehog signaling pathway Pathways in cancer Basal cell carcinoma +4 more
JOUBERT SYNDROME 33	617767 C4540389 MONDO:0033311	PIBF1	Causal	29695797 26167768	ClinVar, Disgenet, GWAS catalog, HPO	—
JOUBERT SYNDROME 34	C4539386	B9D2	Causal	—	Disgenet	Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal Separation of Sister Chromatids Resolution of Sister Chromatid Cohesion +4 more
JOUBERT SYNDROME 35	618161 C4748442 MONDO:0032570	ARL3	Causal	1.61436E+15 30269812	ClinVar, Disgenet, GWAS catalog, HPO	Trafficking of myristoylated proteins to the cilium
JOUBERT SYNDROME 36	618763 C5231493 MONDO:0032902	FAM149B1	Causal	30905400	ClinVar, Disgenet, HPO	—
		TBC1D32	Causal	—	Disgenet	—
		DNAJC9	Unknown	—	Disgenet	—
JOUBERT SYNDROME 37	619185 C5543064 MONDO:0030933	TOGARAM1	Causal	32453716	ClinVar, Disgenet, GWAS catalog, HPO	—
JOUBERT SYNDROME 38	619476 C5561958 MONDO:0030353	KIAA0753	Causal	26643951 29138412 28220259	ClinVar, Disgenet, HPO	—
JOUBERT SYNDROME 39	619562 C5562000 MONDO:0030454	TMEM218	Causal	25161209 33791682	CTD, ClinVar, Disgenet, HPO	—
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 40	619582 C5562007 MONDO:0030462	IFT74	Causal	—	ClinVar, Disgenet, HPO	Intraflagellar transport
JOUBERT SYNDROME 5	610188 C1857780 MESH:C537688 MONDO:0012432	CEP290	Causal	17554762 16909394 17564967 16682970 16682973 17564974 17705300 22355252 20690115 18327255 17617513 19764032 24175892 24850569 29217415 31464256 31840411 31970223 32208788 32600475	CTD, ClinVar, Disgenet, HPO	Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes +5 more
JOUBERT SYNDROME 5	610188 C1857780 MESH:C537688 MONDO:0012432	RLIG1	Unknown	—	Disgenet	—
JOUBERT SYNDROME 6	610688 C1853153 MESH:C537689 MONDO:0012539	TMEM67	Causal	—	CTD, ClinVar, Disgenet, GenCC, HPO	Anchoring of the basal body to the plasma membrane
JOUBERT SYNDROME 7	611560 C1969053 MESH:C566916 MONDO:0012694	RPGRIP1L	Causal	17558409 21866095	CTD, ClinVar, Disgenet, HPO	Hedgehog 'off' state Anchoring of the basal body to the plasma membrane
JOUBERT SYNDROME 8	612291 C2676771 MESH:C567358 MONDO:0012855	ARL13B	Causal	18674751 25138100	CTD, ClinVar, Disgenet, GWAS catalog, HPO	ARL13B-mediated ciliary trafficking of INPP5E Aggrephagy
JOUBERT SYNDROME 9	612285 C2676788 MESH:C567364 MONDO:0012849	CC2D2A	Causal	20671153 18513680 8862632 19574260 2929661 18387594 22246503 18950740 19777577 23351400	CTD, ClinVar, Disgenet, HPO	Anchoring of the basal body to the plasma membrane
JOUBERT SYNDROME 9/15, DIGENIC	C3280898	CC2D2A	Causal	—	Disgenet	Anchoring of the basal body to the plasma membrane
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 AND RELATED DISORDERS	C5679612	AHI1	Causal	—	Disgenet	Anchoring of the basal body to the plasma membrane
		ARL13B	Causal	18674751 25138100	Disgenet, ClinGen	ARL13B-mediated ciliary trafficking of INPP5E Aggrephagy
		B9D1	Causal	—	Disgenet	Anchoring of the basal body to the plasma membrane
		B9D2	Causal	—	Disgenet	Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal Separation of Sister Chromatids Resolution of Sister Chromatid Cohesion +4 more
		CC2D2A	Causal	—	Disgenet	Anchoring of the basal body to the plasma membrane
		CEP104	Causal	26477546	Disgenet	—
		CEP290	Causal	—	Disgenet	Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes +5 more
		CPLANE1	Causal	22425360 23169490 24178751 25407461 29605658 33794348 33822487 34091942 35092359 35582950 36176335 36719180 36789003	Disgenet	—
		INPP5E	Causal	—	Disgenet	Inositol phosphate metabolism Metabolic pathways Phosphatidylinositol signaling system +2 more
		KIAA0586	Causal	—	Disgenet	—
		NPHP1	Causal	—	Disgenet	Anchoring of the basal body to the plasma membrane
		RPGRIP1L	Causal	—	Disgenet	Hedgehog 'off' state Anchoring of the basal body to the plasma membrane
		TCTN1	Causal	22693042 26489806 21725307 26477546 20301500 28631893	Disgenet	Anchoring of the basal body to the plasma membrane
		TCTN2	Causal	—	Disgenet	Anchoring of the basal body to the plasma membrane
		TCTN3	Causal	22883145 25118024	Disgenet	Anchoring of the basal body to the plasma membrane
		TMEM138	Causal	—	Disgenet	—
		TMEM231	Causal	—	Disgenet	—
		TMEM237	Causal	—	Disgenet	—
		TMEM67	Causal	—	Disgenet	Anchoring of the basal body to the plasma membrane
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	AHI1	Causal	20301500 20615230 15467982 16155189 16240161 16453322 25356976 25616960 28442542	GWAS catalog, Orphanet, Disgenet	Anchoring of the basal body to the plasma membrane
		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	NPHP1	Causal	20301500 20615230	ClinVar, Disgenet, GenCC, Orphanet	Anchoring of the basal body to the plasma membrane
		RPGRIP1L	Unknown	20301500 20615230	Disgenet, Orphanet	Hedgehog 'off' state Anchoring of the basal body to the plasma membrane
		TMEM237	Unknown	20301500 22152675	Disgenet, GWAS catalog, Orphanet	—

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Joubert syndrome

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