Joubert syndrome

No Pathway Network information available for Joubert syndrome

Pathways in the Joubert syndrome SuperPath

#	Name	Source	Genes
1	Joubert syndrome	WikiPathways	AHI1 ANKS6 ARL13B ARL2 ARL3 ARMC9 ARR3 ATF4 ATM B9D1 B9D2 BBS1 BBS2 BBS4 BBS5 BBS7 BBS9 CC2D2A CCP110 CEP104 CEP120 CEP164 CEP290 CEP41 CEP97 CETN1 CETN2 CPLANE1 CSPP1 DVL1 DVL3 FLNA INPP5E INVS KAT5 KIAA0586 MKS1 MRE11 MTOR MYO5A MYO6 NEK8 NIN NPHP1 NPHP3 NPHP4 OFD1 PARP1 PCM1 PCNT PDE6A PDE6B PDE6D PDE6G PIBF1 RAB3IP RAB8A RAD50 RHEB RHOA RP2 RPGRIP1L SHH SUFU TCTN1 TCTN2 TCTN3 TMEM138 TMEM17 TMEM216 TMEM231 TMEM237 TMEM67 TTC8 UNC119 ZNF423 (see all 76) (see less)

Ordered by rank within the SuperPath, via the multiplicity of each gene in the constituent pathways

#	Symbol	Description	Category	# Related Pathways
1	CETN1	Centrin 1	Protein Coding	1
2	NIN	Ninein	Protein Coding	1
3	PCNT	Pericentrin	Protein Coding	1
4	CETN2	Centrin 2	Protein Coding	1
5	KIAA0586	KIAA0586	Protein Coding	1
6	CEP41	Centrosomal Protein 41	Protein Coding	1
7	TMEM67	Transmembrane Protein 67	Protein Coding	1
8	UNC119	Unc-119 Lipid Binding Chaperone	Protein Coding	1
9	OFD1	OFD1 Centriole And Centriolar Satellite Protein	Protein Coding	1
10	CEP290	Centrosomal Protein 290	Protein Coding	1
11	TCTN1	Tectonic Family Member 1	Protein Coding	1
12	TMEM231	Transmembrane Protein 231	Protein Coding	1
13	CPLANE1	Ciliogenesis And Planar Polarity Effector Complex Subunit 1	Protein Coding	1
14	SHH	Sonic Hedgehog Signaling Molecule	Protein Coding	1
15	RP2	RP2 Activator Of ARL3 GTPase	Protein Coding	1
16	RHEB	Ras Homolog, MTORC1 Binding	Protein Coding	1
17	BBS4	Bardet-Biedl Syndrome 4	Protein Coding	1
18	BBS2	Bardet-Biedl Syndrome 2	Protein Coding	1
19	BBS1	Bardet-Biedl Syndrome 1	Protein Coding	1
20	CC2D2A	Coiled-Coil And C2 Domain Containing 2A	Protein Coding	1
21	INPP5E	Inositol Polyphosphate-5-Phosphatase E	Protein Coding	1
22	BBS7	Bardet-Biedl Syndrome 7	Protein Coding	1
23	MKS1	MKS Transition Zone Complex Subunit 1	Protein Coding	1
24	AHI1	Abelson Helper Integration Site 1	Protein Coding	1
25	SUFU	SUFU Negative Regulator Of Hedgehog Signaling	Protein Coding	1
26	PDE6B	Phosphodiesterase 6B	Protein Coding	1
27	PDE6G	Phosphodiesterase 6G	Protein Coding	1
28	PDE6A	Phosphodiesterase 6A	Protein Coding	1
29	TMEM216	Transmembrane Protein 216	Protein Coding	1
30	PCM1	Pericentriolar Material 1	Protein Coding	1
31	NPHP1	Nephrocystin 1	Protein Coding	1
32	ATM	ATM Serine/Threonine Kinase	Protein Coding	1
33	ATF4	Activating Transcription Factor 4	Protein Coding	1
34	MYO6	Myosin VI	Protein Coding	1
35	MYO5A	Myosin VA	Protein Coding	1
36	MRE11	MRE11 Double Strand Break Repair Nuclease	Protein Coding	1
37	RAB8A	RAB8A, Member RAS Oncogene Family	Protein Coding	1
38	ARL2	ARF Like GTPase 2	Protein Coding	1
39	RHOA	Ras Homolog Family Member A	Protein Coding	1
40	NEK8	NIMA Related Kinase 8	Protein Coding	1
41	BBS9	Bardet-Biedl Syndrome 9	Protein Coding	1
42	INVS	Inversin	Protein Coding	1
43	B9D1	B9 Domain Containing 1	Protein Coding	1
44	NPHP3	Nephrocystin 3	Protein Coding	1
45	NPHP4	Nephrocystin 4	Protein Coding	1
46	TCTN3	Tectonic Family Member 3	Protein Coding	1
47	MTOR	Mechanistic Target Of Rapamycin Kinase	Protein Coding	1
48	RPGRIP1L	RPGRIP1 Like	Protein Coding	1
49	FLNA	Filamin A	Protein Coding	1
50	ZNF423	Zinc Finger Protein 423	Protein Coding	1
51	CEP164	Centrosomal Protein 164	Protein Coding	1
52	ANKS6	Ankyrin Repeat And Sterile Alpha Motif Domain Containing 6	Protein Coding	1
53	ARL13B	ARF Like GTPase 13B	Protein Coding	1
54	TMEM17	Transmembrane Protein 17	Protein Coding	1
55	DVL3	Dishevelled Segment Polarity Protein 3	Protein Coding	1
56	DVL1	Dishevelled Segment Polarity Protein 1	Protein Coding	1
57	CEP120	Centrosomal Protein 120	Protein Coding	1
58	PARP1	Poly(ADP-Ribose) Polymerase 1	Protein Coding	1
59	BBS5	Bardet-Biedl Syndrome 5	Protein Coding	1
60	TTC8	Tetratricopeptide Repeat Domain 8	Protein Coding	1
61	KAT5	Lysine Acetyltransferase 5	Protein Coding	1
62	PIBF1	Progesterone Immunomodulatory Binding Factor 1	Protein Coding	1
63	RAD50	RAD50 Double Strand Break Repair Protein	Protein Coding	1
64	CCP110	Centriolar Coiled-Coil Protein 110	Protein Coding	1
65	CEP104	Centrosomal Protein 104	Protein Coding	1
66	RAB3IP	RAB3A Interacting Protein	Protein Coding	1
67	B9D2	B9 Domain Containing 2	Protein Coding	1
68	ARMC9	Armadillo Repeat Containing 9	Protein Coding	1
69	TCTN2	Tectonic Family Member 2	Protein Coding	1
70	CSPP1	Centrosome And Spindle Pole Associated Protein 1	Protein Coding	1
71	CEP97	Centrosomal Protein 97	Protein Coding	1
72	TMEM237	Transmembrane Protein 237	Protein Coding	1
73	TMEM138	Transmembrane Protein 138	Protein Coding	1
74	PDE6D	Phosphodiesterase 6D	Protein Coding	1
75	ARR3	Arrestin 3	Protein Coding	1
76	ARL3	ARF Like GTPase 3	Protein Coding	1

Disorders associated with Joubert syndrome SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Joubert syndrome 1	Enrichment	AHI1, ARL13B, ARMC9, B9D1, B9D2, CC2D2A, CEP104, CEP290, CPLANE1, CSPP1, INPP5E, KIAA0586, MKS1, NPHP1, NPHP3, NPHP4, OFD1, PIBF1, RPGRIP1L, TCTN1, TCTN2, TCTN3, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67	11.73
2	Meckel syndrome, type 1	Enrichment	B9D1, B9D2, CC2D2A, CEP290, CSPP1, KIAA0586, MKS1, RPGRIP1L, TCTN1, TCTN2, TCTN3, TMEM138, TMEM17, TMEM216, TMEM231, TMEM237, TMEM67	11.70
3	Isolated joubert syndrome	Enrichment	AHI1, ARL13B, ARL3, ARMC9, B9D1, B9D2, CEP104, CEP120, CEP41, CPLANE1, CSPP1, INPP5E, KIAA0586, MKS1, OFD1, PDE6D, PIBF1, SUFU, TCTN1, TCTN2, TCTN3, TMEM237, TMEM67	10.90
4	Bardet-biedl syndrome	Enrichment	BBS1, BBS2, BBS4, BBS5, BBS7, BBS9, CEP290, MKS1, NPHP1, NPHP4, RPGRIP1L, TMEM67, TTC8	10.77
5	Retinitis pigmentosa	Enrichment	AHI1, ARL3, BBS1, BBS2, BBS4, BBS7, BBS9, CC2D2A, CEP290, INPP5E, KIAA0586, MKS1, NPHP4, OFD1, PDE6A, PDE6B, PDE6G, RP2, TMEM216, TTC8	10.73
6	Nephronophthisis	Enrichment	AHI1, ANKS6, CEP290, CPLANE1, INVS, NPHP1, NPHP3, NPHP4	10.58
7	Coach syndrome 1	Enrichment	CC2D2A, INPP5E, OFD1, RPGRIP1L, TMEM67	10.55
8	Joubert syndrome with ocular defect	Enrichment	AHI1, CEP120, CEP41, INPP5E, MKS1	10.55
9	Orofaciodigital syndrome vi	Enrichment	CPLANE1, OFD1, PDE6D, TCTN3, TMEM216, TMEM231	10.54
10	Arima syndrome	Enrichment	CC2D2A, CEP290, TMEM138, TMEM216, TMEM231, TMEM237, ZNF423	10.53
11	Hereditary retinal dystrophy	Enrichment	AHI1, BBS1, BBS2, BBS4, BBS5, BBS7, BBS9, CC2D2A, CEP164, CEP290, INPP5E, KIAA0586, NPHP1, NPHP4, OFD1, PDE6A, PDE6B, PDE6G, RP2, TTC8	10.52
12	Fundus dystrophy	Enrichment	AHI1, BBS1, BBS2, BBS4, BBS5, BBS7, BBS9, CC2D2A, CEP164, CEP290, INPP5E, KIAA0586, NPHP1, NPHP4, OFD1, PDE6A, PDE6B, PDE6G, RP2, TTC8	10.52
13	Bardet-biedl syndrome 1	Enrichment	BBS1, BBS2, BBS4, BBS5, BBS7, BBS9	10.31
14	Senior-loken syndrome 1	Enrichment	CEP164, CEP290, INVS, NPHP1, NPHP3, NPHP4	10.31
15	Infantile nephronophthisis	Enrichment	ANKS6, INVS, NEK8, NPHP3, ZNF423	9.50
16	Leber plus disease	Enrichment	AHI1, BBS1, CC2D2A, CEP290, INPP5E, PDE6A, PDE6B, RP2, RPGRIP1L	8.57
17	Meckel syndrome, type 6	Enrichment	CC2D2A, CEP290, TCTN2	6.77
18	Ciliopathy	Enrichment	CC2D2A, RPGRIP1L, TCTN3, TMEM231	6.54
19	Joubert syndrome 4	Enrichment	NPHP1, RPGRIP1L, TMEM237	6.17
20	Polydactyly	Enrichment	CC2D2A, CPLANE1, MKS1	4.86
21	Nephronophthisis 4	Enrichment	BBS9, NPHP4	4.51
22	Joubert syndrome 10	Enrichment	CC2D2A, OFD1	4.51
23	Cardiac valvular dysplasia, x-linked	Enrichment	ATM, FLNA	4.51
24	Renal-hepatic-pancreatic dysplasia	Enrichment	NEK8, NPHP3	4.03
25	Dandy-walker syndrome	Enrichment	ARMC9, CSPP1, PIBF1	3.96
26	Polycystic kidney disease	Enrichment	CC2D2A, CEP290, NPHP3	3.89
27	Robinow syndrome, autosomal dominant 1	Enrichment	DVL1, DVL3	3.73
28	Orofaciodigital syndrome iii	Enrichment	OFD1, TMEM231	3.73
29	Focal cortical dysplasia, type ii	Enrichment	MTOR, RHEB	3.73
30	Bardet-biedl syndrome 14	Enrichment	CEP290, TMEM67	3.73
31	Nijmegen breakage syndrome-like disorder	Enrichment	MRE11, RAD50	3.73
32	Oligohydramnios	Enrichment	CC2D2A, TMEM67	3.73
33	Autosomal dominant robinow syndrome	Enrichment	DVL1, DVL3	3.73
34	Isolated focal cortical dysplasia type ii	Enrichment	MTOR, RHEB	3.73
35	Oculomotor apraxia	Enrichment	ATM, SUFU	3.73
36	Robinow syndrome, autosomal recessive 1	Enrichment	DVL1, DVL3	3.51
37	Robinow syndrome, autosomal dominant 2	Enrichment	DVL1, DVL3	3.51
38	Hemimegalencephaly	Enrichment	MTOR, RHEB	3.51
39	Joubert syndrome with jeune asphyxiating thoracic dystrophy	Enrichment	CSPP1, KIAA0586	3.51
40	Autosomal recessive robinow syndrome	Enrichment	DVL1, DVL3	3.34
41	Patent ductus arteriosus	Enrichment	FLNA, INPP5E	3.34
42	Cone-rod dystrophy 2	Enrichment	CEP290, PDE6B, RP2, UNC119	3.25
43	Renal cell carcinoma, papillary, 1	Enrichment	ATM, MTOR	3.19
44	Cakut	Enrichment	NPHP1, NPHP4, TMEM231	3.05
45	Eye disease	Enrichment	AHI1, BBS9, RP2	3.01
46	Cystic kidney disease	Enrichment	CC2D2A, TMEM67	2.96
47	Colonic benign neoplasm	Enrichment	ATM, MRE11	2.96
48	Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly	Enrichment	CC2D2A, INPP5E	2.63
49	Clubfoot	Enrichment	CC2D2A, INPP5E	2.63
50	Cone-rod dystrophy 6	Enrichment	ARL3, PDE6B	2.57
51	Renal cell carcinoma, nonpapillary	Enrichment	ATM, MTOR	2.51
52	Kidney disease	Enrichment	CEP290, NPHP4	2.51
53	Spastic ataxia	Enrichment	CEP290, MKS1, TMEM67	2.49
54	Microform holoprosencephaly	Enrichment	SHH, SUFU	2.45
55	Hereditary breast ovarian cancer syndrome	Enrichment	ATM, MRE11, RAD50	2.44
56	Cleft palate, isolated	Enrichment	FLNA, INPP5E	2.40
57	Holoprosencephaly 3	Enrichment	SHH	2.25
58	Retinitis pigmentosa 23	Enrichment	OFD1	2.25
59	Simpson-golabi-behmel syndrome, type 2	Enrichment	OFD1	2.25
60	Otopalatodigital syndrome, type i	Enrichment	FLNA	2.25
61	Intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linked	Enrichment	FLNA	2.25
62	Joubert syndrome 7	Enrichment	RPGRIP1L	2.25
63	Joubert syndrome 2	Enrichment	TMEM216	2.25
64	Joubert syndrome 3	Enrichment	AHI1	2.25
65	Deafness, autosomal dominant 22	Enrichment	MYO6	2.25
66	Microphthalmia/coloboma 5	Enrichment	SHH	2.25
67	Renal-hepatic-pancreatic dysplasia 2	Enrichment	NEK8	2.25
68	Immunodeficiency 13	Enrichment	UNC119	2.25
69	Short-rib thoracic dysplasia 14 with polydactyly	Enrichment	KIAA0586	2.25
70	Meckel syndrome, type 3	Enrichment	TMEM67	2.25
71	Griscelli syndrome, type 1	Enrichment	MYO5A	2.25
72	Retinitis pigmentosa 57	Enrichment	PDE6G	2.25
73	Elejalde neuroectodermal melanolysosomal syndrome	Enrichment	MYO5A	2.25
74	Bardet-biedl syndrome 4	Enrichment	BBS4	2.25
75	Joubert syndrome 6	Enrichment	TMEM67	2.25
76	Joubert syndrome 8	Enrichment	ARL13B	2.25
77	Nephronophthisis 9	Enrichment	NEK8	2.25
78	Microcephalic osteodysplastic primordial dwarfism, type ii	Enrichment	PCNT	2.25
79	Retinitis pigmentosa 98	Enrichment	TMEM216	2.25
80	Joubert syndrome 22	Enrichment	PDE6D	2.25
81	Rhyns syndrome	Enrichment	TMEM67	2.25
82	Retinitis pigmentosa 93	Enrichment	CC2D2A	2.25
83	Joubert syndrome 35	Enrichment	ARL3	2.25
84	Joubert syndrome 32	Enrichment	SUFU	2.25
85	Terminal osseous dysplasia	Enrichment	FLNA	2.25
86	Fg syndrome 2	Enrichment	FLNA	2.25
87	Meckel syndrome, type 9	Enrichment	B9D1	2.25
88	Deafness, autosomal recessive 37	Enrichment	MYO6	2.25
89	Myopia 26, x-linked, female-limited	Enrichment	ARR3	2.25
90	Joubert syndrome 9	Enrichment	CC2D2A	2.25
91	Bardet-biedl syndrome 8	Enrichment	TTC8	2.25
92	Coach syndrome 2	Enrichment	CC2D2A	2.25
93	Coach syndrome 3	Enrichment	RPGRIP1L	2.25
94	Joubert syndrome 33	Enrichment	PIBF1	2.25
95	Meckel syndrome, type 2	Enrichment	TMEM216	2.25
96	Ataxia-telangiectasia-like disorder 1	Enrichment	MRE11	2.25
97	Otopalatodigital syndrome spectrum disorder	Enrichment	FLNA	2.25
98	Senior-loken syndrome 4	Enrichment	NPHP4	2.25
99	Impaired intellectual development, truncal obesity, retinal dystrophy, and micropenis syndrome	Enrichment	INPP5E	2.25
100	Joubert syndrome 15	Enrichment	CEP41	2.25
101	Joubert syndrome 16	Enrichment	TMEM138	2.25
102	Nephronophthisis 14	Enrichment	ZNF423	2.25
103	Nephronophthisis 15	Enrichment	CEP164	2.25
104	Bardet-biedl syndrome 7	Enrichment	BBS7	2.25
105	Meckel syndrome, type 5	Enrichment	RPGRIP1L	2.25
106	Nephronophthisis 11	Enrichment	TMEM67	2.25
107	Endometrial serous adenocarcinoma	Enrichment	ATM	2.25
108	Peritonitis	Enrichment	TMEM67	2.25
109	Meckel syndrome, type 10	Enrichment	B9D2	2.25
110	Joubert syndrome 27	Enrichment	B9D1	2.25
111	Retinitis pigmentosa 51	Enrichment	TTC8	2.25
112	Meckel syndrome, type 8	Enrichment	TCTN2	2.25
113	Retinitis pigmentosa 74	Enrichment	BBS2	2.25
114	Joubert syndrome 13	Enrichment	TCTN1	2.25
115	Retinitis pigmentosa 43	Enrichment	PDE6A	2.25
116	Short-rib thoracic dysplasia 13 with or without polydactyly	Enrichment	CEP120	2.25
117	Joubert syndrome 23	Enrichment	KIAA0586	2.25
118	X-linked ehlers-danlos syndrome	Enrichment	FLNA	2.25
119	Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies	Enrichment	RHOA	2.25
120	Joubert syndrome 31	Enrichment	CEP120	2.25
121	Retinitis pigmentosa 83	Enrichment	ARL3	2.25
122	Polycystic kidney disease 8	Enrichment	NEK8	2.25
123	Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies	Enrichment	RHOA	2.25
124	Joubert syndrome 24	Enrichment	TCTN2	2.25
125	Bardet-biedl syndrome 2	Enrichment	BBS2	2.25
126	Cephalocele	Enrichment	PIBF1	2.25
127	B-cell non-hodgkin lymphoma	Enrichment	ATM	2.25
128	Pancreatitis	Enrichment	TMEM67	2.25
129	Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome	Enrichment	MYO6	2.25
130	Autosomal dominant nonsyndromic hearing loss 22	Enrichment	MYO6	2.25
131	X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome	Enrichment	FLNA	2.25
132	Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome	Enrichment	SHH	2.25
133	Inherited cancer-predisposing syndrome	Enrichment	ATM, MRE11, RAD50, SUFU	2.19
134	Breast cancer	Enrichment	ATM, MRE11, RAD50	2.07
135	Nephronophthisis 1	Enrichment	NPHP1	1.95
136	Visceral neuropathy, familial, 1, autosomal recessive	Enrichment	FLNA	1.95
137	Spondyloepiphyseal dysplasia tarda, x-linked	Enrichment	OFD1	1.95
138	Retinitis pigmentosa 2	Enrichment	RP2	1.95
139	Otopalatodigital syndrome, type ii	Enrichment	FLNA	1.95
140	Melnick-needles syndrome	Enrichment	FLNA	1.95
141	Frontometaphyseal dysplasia 1	Enrichment	FLNA	1.95
142	Orofaciodigital syndrome i	Enrichment	OFD1	1.95
143	Griscelli syndrome, type 3	Enrichment	MYO5A	1.95
144	Solitary median maxillary central incisor	Enrichment	SHH	1.95
145	Joubert syndrome 14	Enrichment	TMEM237	1.95
146	Joubert syndrome 17	Enrichment	CPLANE1	1.95
147	Robinow syndrome, autosomal dominant 3	Enrichment	DVL3	1.95
148	Joubert syndrome 18	Enrichment	TCTN3	1.95
149	Meckel syndrome, type 11	Enrichment	TMEM231	1.95
150	Leber congenital amaurosis 6	Enrichment	MKS1	1.95
151	Orofaciodigital syndrome iv	Enrichment	TCTN3	1.95
152	Bardet-biedl syndrome 5	Enrichment	BBS5	1.95
153	Nephronophthisis 16	Enrichment	ANKS6	1.95
154	Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities	Enrichment	KAT5	1.95
155	Joubert syndrome 30	Enrichment	ARMC9	1.95
156	Cone-rod dystrophy 24	Enrichment	UNC119	1.95
157	Cebalid syndrome	Enrichment	MTOR	1.95
158	Seckel syndrome 7	Enrichment	NIN	1.95
159	Joubert syndrome 20	Enrichment	TMEM231	1.95
160	Joubert syndrome 21	Enrichment	CSPP1	1.95
161	Spondyloepiphyseal dysplasia tarda	Enrichment	OFD1	1.95
162	Bardet-biedl syndrome 13	Enrichment	MKS1	1.95
163	Congenital fibrosarcoma	Enrichment	SUFU	1.95
164	High grade glioma	Enrichment	ATM	1.95
165	Bardet-biedl syndrome 9	Enrichment	BBS9	1.95
166	T-cell prolymphocytic leukemia	Enrichment	ATM	1.95
167	Smith-kingsmore syndrome	Enrichment	MTOR	1.95
168	Joubert syndrome 28	Enrichment	MKS1	1.95
169	Intellectual developmental disorder, autosomal recessive 77	Enrichment	CEP104	1.95
170	Basal cell nevus syndrome 2	Enrichment	SUFU	1.95
171	Short femur	Enrichment	INPP5E	1.95
172	Cerebellar malformation	Enrichment	TMEM67	1.95
173	Senior-boichis syndrome	Enrichment	TMEM67	1.95
174	Isolated radial hemimelia	Enrichment	SHH	1.95
175	Short-rib thoracic dysplasia 1 with or without polydactyly	Enrichment	CEP120, KIAA0586	1.84
176	Dystonia	Enrichment	CEP104, MYO5A	1.79
177	Prune belly syndrome	Enrichment	FLNA	1.78
178	Night blindness, congenital stationary, autosomal dominant 2	Enrichment	PDE6B	1.78
179	Ataxia-telangiectasia	Enrichment	ATM	1.78
180	Arterial tortuosity syndrome	Enrichment	FLNA	1.78
181	Polycythemia vera	Enrichment	ATM	1.78
182	Syndactyly, type iv	Enrichment	SHH	1.78
183	Periventricular nodular heterotopia 1	Enrichment	FLNA	1.78
184	Simpson-golabi-behmel syndrome, type 1	Enrichment	OFD1	1.78
185	Retinitis pigmentosa 3	Enrichment	RP2	1.78
186	Meckel syndrome, type 7	Enrichment	NPHP3	1.78
187	Nephronophthisis 2	Enrichment	INVS	1.78
188	Senior-loken syndrome 6	Enrichment	CEP290	1.78
189	Nephronophthisis 3	Enrichment	NPHP3	1.78
190	Joubert syndrome 5	Enrichment	CEP290	1.78
191	Congenital short bowel syndrome	Enrichment	FLNA	1.78
192	Joubert syndrome 25	Enrichment	CEP104	1.78
193	Retinitis pigmentosa 40	Enrichment	PDE6B	1.78
194	Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1	Enrichment	ARL2	1.78
195	Koolen-de vries syndrome	Enrichment	ATM	1.78
196	Interstitial lung disease	Enrichment	INPP5E	1.78
197	Hypoplastic or aplastic tibia with polydactyly	Enrichment	SHH	1.78
198	Frontometaphyseal dysplasia	Enrichment	FLNA	1.78
199	Adenocarcinoma	Enrichment	ATM	1.78
200	Desmoplastic/nodular medulloblastoma	Enrichment	SUFU	1.78
201	Cog7-congenital disorder of glycosylation	Enrichment	CEP290	1.78
202	Respiratory failure	Enrichment	INPP5E	1.78
203	Occipital encephalocele	Enrichment	CEP290	1.78
204	Late-onset nephronophthisis	Enrichment	NPHP3	1.78
205	Ovarian cancer	Enrichment	ATM, MRE11, RAD50	1.72
206	Congenital nervous system abnormality	Enrichment	CEP290, TMEM216, TMEM67	1.67
207	Nervous system disease	Enrichment	CEP290, TMEM216, TMEM67	1.67
208	Polydactyly, preaxial ii	Enrichment	SHH	1.65
209	Renal-hepatic-pancreatic dysplasia 1	Enrichment	NPHP3	1.65
210	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	Enrichment	MRE11	1.65
211	Schizencephaly	Enrichment	SHH	1.65
212	Erythrocytosis, familial, 2	Enrichment	CEP120	1.65
213	Amyotrophy, monomelic	Enrichment	CPLANE1	1.65
214	Meckel syndrome, type 4	Enrichment	CEP290	1.65
215	Mantle cell lymphoma	Enrichment	ATM	1.65
216	Anencephaly	Enrichment	CC2D2A	1.65
217	Orofaciodigital syndrome	Enrichment	OFD1	1.65
218	Optic atrophy plus syndrome	Enrichment	BBS7, NPHP3	1.60
219	Hereditary breast carcinoma	Enrichment	ATM, RAD50	1.60
220	Albinism, oculocutaneous, type ii	Enrichment	PDE6B	1.56
221	Leber congenital amaurosis 10	Enrichment	CEP290	1.56
222	Glioblastoma	Enrichment	ATM	1.56
223	Night blindness	Enrichment	CEP290	1.56
224	Basal cell nevus syndrome 1	Enrichment	SUFU	1.48
225	Hemihyperplasia, isolated	Enrichment	RHOA	1.48
226	Epidermolysis bullosa, junctional 5b, with pyloric atresia	Enrichment	MYO6	1.48
227	Renal dysplasia, cystic	Enrichment	CEP290	1.48
228	Clear cell renal cell carcinoma	Enrichment	ATM	1.48
229	Infertility	Enrichment	NPHP4	1.48
230	Overgrowth syndrome	Enrichment	MTOR	1.41
231	Spastic paraplegia 4, autosomal dominant	Enrichment	OFD1	1.36
232	Fanconi anemia, complementation group c	Enrichment	FLNA	1.36
233	Immunodeficiency 47	Enrichment	CEP290	1.36
234	Cat eye syndrome	Enrichment	TMEM67	1.26
235	Lynch syndrome 1	Enrichment	ATM	1.26
236	Leukemia, chronic lymphocytic	Enrichment	ATM	1.26
237	Polymicrogyria	Enrichment	OFD1	1.26
238	Primary bone dysplasia	Enrichment	INPP5E	1.26
239	Immune deficiency disease	Enrichment	ATM	1.22
240	Meningioma, familial	Enrichment	SUFU	1.22
241	Osteochondrodysplasia	Enrichment	INPP5E	1.22
242	Uterine corpus cancer	Enrichment	ATM	1.22
243	Familial colorectal cancer type x	Enrichment	ATM	1.22
244	Septooptic dysplasia	Enrichment	SHH	1.19
245	Meningioma	Enrichment	SUFU	1.19
246	Microphthalmia/coloboma 12	Enrichment	TMEM67	1.15
247	Breast-ovarian cancer, familial 1	Enrichment	ATM	1.15
248	Chronic kidney disease	Enrichment	MKS1	1.15
249	Osteoporosis	Enrichment	OFD1	1.12
250	Medulloblastoma	Enrichment	SUFU	1.12
251	Periventricular nodular heterotopia	Enrichment	FLNA	1.12
252	Seckel syndrome	Enrichment	PCNT	1.12
253	Coloboma of macula	Enrichment	TMEM67	1.09
254	Polydactyly, postaxial, type a1	Enrichment	CC2D2A	1.09
255	Autosomal dominant polycystic kidney disease	Enrichment	NEK8	1.09
256	Rare genetic intellectual disability	Enrichment	MTOR	1.09
257	Septopreoptic holoprosencephaly	Enrichment	SHH	1.09
258	Midline interhemispheric variant of holoprosencephaly	Enrichment	SHH	1.09
259	Hydrocephalus, congenital, 1	Enrichment	OFD1	1.07
260	Gliosarcoma	Enrichment	ATM	1.07
261	Lobar holoprosencephaly	Enrichment	SHH	1.07
262	Giant cell glioblastoma	Enrichment	ATM	1.04
263	Alobar holoprosencephaly	Enrichment	SHH	1.04
264	Patent foramen ovale	Enrichment	FLNA	1.02
265	Semilobar holoprosencephaly	Enrichment	SHH	1.02
266	Macs syndrome	Enrichment	SHH	0.97
267	Endometrial cancer	Enrichment	ATM	0.95
268	Hepatocellular carcinoma	Enrichment	RAD50	0.93
269	Congenital stationary night blindness	Enrichment	PDE6B	0.92
270	Ear malformation	Enrichment	MYO6	0.90
271	Cone dystrophy	Enrichment	BBS5	0.90
272	Pancreatic cancer	Enrichment	ATM	0.88
273	Jeune thoracic dystrophy	Enrichment	KIAA0586	0.88
274	Asphyxiating thoracic dystrophy	Enrichment	KIAA0586	0.84
275	Bladder cancer	Enrichment	ATM	0.82
276	Prostate cancer	Enrichment	ATM	0.82
277	Severe covid-19	Enrichment	CC2D2A	0.82
278	Differentiated thyroid carcinoma	Enrichment	PCM1	0.82
279	Connective tissue disease	Enrichment	OFD1	0.78
280	Usher syndrome	Enrichment	BBS1	0.77
281	Non-syndromic genetic deafness	Enrichment	MYO6	0.74
282	Nonsyndromic hearing loss	Enrichment	MYO6	0.68
283	Gastric cancer	Enrichment	ATM	0.67
284	Familial thoracic aortic aneurysm and aortic dissection	Enrichment	FLNA	0.66
285	Rare autosomal dominant non-syndromic sensorineural deafness type dfna	Enrichment	MYO6	0.60
286	Myeloma, multiple	Enrichment	ATM	0.57
287	Autosomal recessive non-syndromic intellectual disability	Enrichment	CEP104	0.56
288	Autism	Enrichment	SHH	0.48
289	Primary ciliary dyskinesia	Enrichment	OFD1	0.46
290	Rare genetic deafness	Enrichment	MYO6	0.44
291	Colorectal cancer	Enrichment	ATM	0.41
292	Rare autosomal recessive non-syndromic sensorineural deafness type dfnb	Enrichment	MYO6	0.40
293	Autism spectrum disorder	Enrichment	CEP104	0.34
294	Microcephaly	Enrichment	CC2D2A	0.30

¹ WikiPathways

² PubChem

³ R&D Systems

⁴ Reactome

⁵ GeneGo (Thomson Reuters)

⁶ QIAGEN

⁷ PharmGKB

⁸ Cell Signaling Technology

⁹ Sino Biological

¹⁰ Tocris

¹¹ MalaCards

Joubert syndrome

Pathway Network for Joubert syndrome

Member Pathways for Joubert syndrome

Pathways in the Joubert syndrome SuperPath

Associated Genes for Joubert syndrome

Associated Disorders for Joubert syndrome

Disorders associated with Joubert syndrome SuperPath

STRING Interaction Network for Joubert syndrome

Sources for Joubert syndrome