Ciliopathies

No Pathway Network information available for Ciliopathies

Pathways in the Ciliopathies SuperPath

#	Name	Source	Genes
1	Ciliopathies	WikiPathways	ADCY6 AHI1 AK7 ALMS1 ANKS3 ANKS6 ARL2BP ATXN10 B9D1 B9D2 BBS4 C2CD3 CC2D2A CCDC28B CENPF CEP104 CEP120 CEP164 CEP19 CEP290 CEP41 CEP78 CEP83 CFAP410 CFAP52 CFAP53 CILK1 CNGA1 CNGB1 CPLANE1 CRX CSPP1 DCDC2 DDX59 DNAAF19 EFHC1 EVC EVC2 FAM161A FLCN GALNT11 GLI2 GLI3 GLIS2 GPR161 HYLS1 INPP5E INTU INVS IQCB1 KATNIP KIAA0586 KIAA0753 KIF7 KIZ LCA5 MKS1 NEK1 NEK2 NEK8 NEK9 NME7 NPHP1 NPHP3 NPHP4 OCRL OFD1 PCARE PIBF1 PIK3R4 PKD1 PKD1L1 PKD2 PKHD1 PLK4 POC1A POC1B POMGNT1 RAB23 RAB28 RP1 RP1L1 RP2 RPGRIP1 RPGRIP1L SCLT1 SDCCAG8 SMO SPATA7 SUFU TAPT1 TBC1D32 TCTN1 TCTN2 TCTN3 TMEM107 TMEM138 TMEM17 TMEM216 TMEM231 TMEM237 TMEM67 TOPORS TTBK2 TTLL5 TUB TULP1 USP9X WDPCP XPNPEP3 ZIC2 ZNF423 (see all 112) (see less)

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

#	Symbol	Description	Category	# Related Pathways
1	GALNT11	Polypeptide N-Acetylgalactosaminyltransferase 11	Protein Coding	1
2	KIAA0753	KIAA0753	Protein Coding	1
3	KIAA0586	KIAA0586	Protein Coding	1
4	IQCB1	IQ Motif Containing B1	Protein Coding	1
5	CEP41	Centrosomal Protein 41	Protein Coding	1
6	RP1L1	RP1 Like 1	Protein Coding	1
7	RAB28	RAB28, Member RAS Oncogene Family	Protein Coding	1
8	NEK9	NIMA Related Kinase 9	Protein Coding	1
9	TMEM67	Transmembrane Protein 67	Protein Coding	1
10	CEP19	Centrosomal Protein 19	Protein Coding	1
11	OFD1	OFD1 Centriole And Centriolar Satellite Protein	Protein Coding	1
12	GLIS2	GLIS Family Zinc Finger 2	Protein Coding	1
13	FAM161A	FAM161 Centrosomal Protein A	Protein Coding	1
14	CEP78	Centrosomal Protein 78	Protein Coding	1
15	DDX59	DEAD-Box Helicase 59	Protein Coding	1
16	USP9X	Ubiquitin Specific Peptidase 9 X-Linked	Protein Coding	1
17	CEP290	Centrosomal Protein 290	Protein Coding	1
18	TCTN1	Tectonic Family Member 1	Protein Coding	1
19	TMEM231	Transmembrane Protein 231	Protein Coding	1
20	CCDC28B	Coiled-Coil Domain Containing 28B	Protein Coding	1
21	ALMS1	ALMS1 Centrosome And Basal Body Associated Protein	Protein Coding	1
22	CFAP410	Cilia And Flagella Associated Protein 410	Protein Coding	1
23	ZIC2	Zic Family Zinc Finger 2	Protein Coding	1
24	TULP1	TUB Like Protein 1	Protein Coding	1
25	TUB	TUB Bipartite Transcription Factor	Protein Coding	1
26	SMO	Smoothened, Frizzled Class Receptor	Protein Coding	1
27	CPLANE1	Ciliogenesis And Planar Polarity Effector Complex Subunit 1	Protein Coding	1
28	XPNPEP3	X-Prolyl Aminopeptidase 3	Protein Coding	1
29	RP2	RP2 Activator Of ARL3 GTPase	Protein Coding	1
30	RP1	RP1 Axonemal Microtubule Associated	Protein Coding	1
31	BBS4	Bardet-Biedl Syndrome 4	Protein Coding	1
32	CC2D2A	Coiled-Coil And C2 Domain Containing 2A	Protein Coding	1
33	RPGRIP1	RPGR Interacting Protein 1	Protein Coding	1
34	INPP5E	Inositol Polyphosphate-5-Phosphatase E	Protein Coding	1
35	KIZ	Kizuna Centrosomal Protein	Protein Coding	1
36	SPATA7	Spermatogenesis Associated 7	Protein Coding	1
37	POMGNT1	Protein O-Linked Mannose N-Acetylglucosaminyltransferase 1 (Beta 1,2-)	Protein Coding	1
38	MKS1	MKS Transition Zone Complex Subunit 1	Protein Coding	1
39	AHI1	Abelson Helper Integration Site 1	Protein Coding	1
40	PKHD1	PKHD1 Ciliary IPT Domain Containing Fibrocystin/Polyductin	Protein Coding	1
41	PKD2	Polycystin 2, Transient Receptor Potential Cation Channel	Protein Coding	1
42	PKD1	Polycystin 1, Transient Receptor Potential Channel Interacting	Protein Coding	1
43	RAB23	RAB23, Member RAS Oncogene Family	Protein Coding	1
44	SUFU	SUFU Negative Regulator Of Hedgehog Signaling	Protein Coding	1
45	DCDC2	Doublecortin Domain Containing 2	Protein Coding	1
46	TMEM216	Transmembrane Protein 216	Protein Coding	1
47	CEP83	Centrosomal Protein 83	Protein Coding	1
48	WDPCP	WD Repeat Containing Planar Cell Polarity Effector	Protein Coding	1
49	OCRL	OCRL Inositol Polyphosphate-5-Phosphatase	Protein Coding	1
50	NPHP1	Nephrocystin 1	Protein Coding	1
51	NEK2	NIMA Related Kinase 2	Protein Coding	1
52	NEK1	NIMA Related Kinase 1	Protein Coding	1
53	PCARE	Photoreceptor Cilium Actin Regulator	Protein Coding	1
54	DNAAF19	Dynein Axonemal Assembly Factor 19	Protein Coding	1
55	KIF7	Kinesin Family Member 7	Protein Coding	1
56	NME7	NME/NM23 Family Member 7	Protein Coding	1
57	NEK8	NIMA Related Kinase 8	Protein Coding	1
58	POC1B	POC1 Centriolar Protein B	Protein Coding	1
59	GLI3	GLI Family Zinc Finger 3	Protein Coding	1
60	GLI2	GLI Family Zinc Finger 2	Protein Coding	1
61	INVS	Inversin	Protein Coding	1
62	B9D1	B9 Domain Containing 1	Protein Coding	1
63	NPHP3	Nephrocystin 3	Protein Coding	1
64	NPHP4	Nephrocystin 4	Protein Coding	1
65	TCTN3	Tectonic Family Member 3	Protein Coding	1
66	C2CD3	C2 Domain Containing 3 Centriole Elongation Regulator	Protein Coding	1
67	ATXN10	Ataxin 10	Protein Coding	1
68	ARL2BP	ARF Like GTPase 2 Binding Protein	Protein Coding	1
69	GPR161	G Protein-Coupled Receptor 161	Protein Coding	1
70	RPGRIP1L	RPGRIP1 Like	Protein Coding	1
71	TTLL5	Tubulin Tyrosine Ligase Like 5	Protein Coding	1
72	ZNF423	Zinc Finger Protein 423	Protein Coding	1
73	CEP164	Centrosomal Protein 164	Protein Coding	1
74	CILK1	Ciliogenesis Associated Kinase 1	Protein Coding	1
75	CFAP53	Cilia And Flagella Associated Protein 53	Protein Coding	1
76	HYLS1	HYLS1 Centriolar And Ciliogenesis Associated	Protein Coding	1
77	EVC	EvC Ciliary Complex Subunit 1	Protein Coding	1
78	ANKS6	Ankyrin Repeat And Sterile Alpha Motif Domain Containing 6	Protein Coding	1
79	TAPT1	Transmembrane Anterior Posterior Transformation 1	Protein Coding	1
80	FLCN	Folliculin	Protein Coding	1
81	TMEM17	Transmembrane Protein 17	Protein Coding	1
82	PKD1L1	Polycystin 1 Like 1, Transient Receptor Potential Channel Interacting	Protein Coding	1
83	LCA5	Lebercilin LCA5	Protein Coding	1
84	CEP120	Centrosomal Protein 120	Protein Coding	1
85	TTBK2	Tau Tubulin Kinase 2	Protein Coding	1
86	CRX	Cone-Rod Homeobox	Protein Coding	1
87	EVC2	EvC Ciliary Complex Subunit 2	Protein Coding	1
88	CNGA1	Cyclic Nucleotide Gated Channel Subunit Alpha 1	Protein Coding	1
89	CNGB1	Cyclic Nucleotide Gated Channel Subunit Beta 1	Protein Coding	1
90	EFHC1	EF-Hand Domain Containing 1	Protein Coding	1
91	ADCY6	Adenylate Cyclase 6	Protein Coding	1
92	SDCCAG8	SHH Signaling And Ciliogenesis Regulator SDCCAG8	Protein Coding	1
93	PLK4	Polo Like Kinase 4	Protein Coding	1
94	CENPF	Centromere Protein F	Protein Coding	1
95	PIBF1	Progesterone Immunomodulatory Binding Factor 1	Protein Coding	1
96	TOPORS	TOP1 Binding Arginine/Serine Rich Protein, E3 Ubiquitin Ligase	Protein Coding	1
97	CFAP52	Cilia And Flagella Associated Protein 52	Protein Coding	1
98	CEP104	Centrosomal Protein 104	Protein Coding	1
99	TMEM107	Transmembrane Protein 107	Protein Coding	1
100	SCLT1	Sodium Channel And Clathrin Linker 1	Protein Coding	1
101	ANKS3	Ankyrin Repeat And Sterile Alpha Motif Domain Containing 3	Protein Coding	1
102	AK7	Adenylate Kinase 7	Protein Coding	1
103	B9D2	B9 Domain Containing 2	Protein Coding	1
104	TCTN2	Tectonic Family Member 2	Protein Coding	1
105	CSPP1	Centrosome And Spindle Pole Associated Protein 1	Protein Coding	1
106	TMEM237	Transmembrane Protein 237	Protein Coding	1
107	TMEM138	Transmembrane Protein 138	Protein Coding	1
108	PIK3R4	Phosphoinositide-3-Kinase Regulatory Subunit 4	Protein Coding	1
109	INTU	Inturned Planar Cell Polarity Protein	Protein Coding	1
110	POC1A	POC1 Centriolar Protein A	Protein Coding	1
111	KATNIP	Katanin Interacting Protein	Protein Coding	1
112	TBC1D32	TBC1 Domain Family Member 32	Protein Coding	1

Disorders associated with Ciliopathies SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Leber plus disease	Enrichment	AHI1, ALMS1, CC2D2A, CEP290, CFAP410, CRX, INPP5E, IQCB1, LCA5, RP2, RPGRIP1, RPGRIP1L, SPATA7, TULP1	11.07
2	Senior-loken syndrome 1	Enrichment	CEP164, CEP290, INVS, IQCB1, NPHP1, NPHP3, NPHP4, SDCCAG8	11.07
3	Nephronophthisis	Enrichment	AHI1, ANKS6, CEP290, CPLANE1, GLIS2, INTU, INVS, IQCB1, NPHP1, NPHP3, NPHP4	10.88
4	Bardet-biedl syndrome	Enrichment	ALMS1, BBS4, CEP19, CEP290, IQCB1, MKS1, NPHP1, NPHP4, RPGRIP1L, SCLT1, SDCCAG8, TMEM67, WDPCP	10.80
5	Joubert syndrome 1	Enrichment	AHI1, B9D1, B9D2, C2CD3, CC2D2A, CEP104, CEP290, CPLANE1, CSPP1, INPP5E, KATNIP, KIAA0586, KIAA0753, MKS1, NPHP1, NPHP3, NPHP4, OFD1, PIBF1, RPGRIP1L, TCTN1, TCTN2, TCTN3, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67	10.80
6	Retinitis pigmentosa	Enrichment	AHI1, ALMS1, ARL2BP, BBS4, CC2D2A, CEP290, CFAP410, CNGA1, CNGB1, CRX, FAM161A, INPP5E, IQCB1, KIAA0586, KIZ, LCA5, MKS1, NEK2, NPHP4, OFD1, PCARE, POMGNT1, RP1, RP1L1, RP2, RPGRIP1, SPATA7, TMEM216, TOPORS, TTLL5, TUB, TULP1	10.74
7	Cone-rod dystrophy 2	Enrichment	ALMS1, CEP290, CEP78, CFAP410, CNGA1, CRX, FAM161A, PCARE, POC1B, RAB28, RP2, RPGRIP1, TTLL5	10.74
8	Meckel syndrome, type 1	Enrichment	B9D1, B9D2, CC2D2A, CEP290, CSPP1, EVC2, KIAA0586, MKS1, RPGRIP1, RPGRIP1L, TCTN1, TCTN2, TCTN3, TMEM107, TMEM138, TMEM17, TMEM216, TMEM231, TMEM237, TMEM67	10.68
9	Isolated joubert syndrome	Enrichment	AHI1, B9D1, B9D2, CEP104, CEP120, CEP41, CPLANE1, CSPP1, HYLS1, INPP5E, KATNIP, KIAA0586, KIAA0753, MKS1, OFD1, PIBF1, SUFU, TCTN1, TCTN2, TCTN3, TMEM237, TMEM67	10.61
10	Hereditary retinal dystrophy	Enrichment	AHI1, ALMS1, ARL2BP, BBS4, CC2D2A, CEP164, CEP290, CEP78, CFAP410, CNGA1, CNGB1, CRX, FAM161A, INPP5E, IQCB1, KIAA0586, KIZ, LCA5, NEK2, NPHP1, NPHP4, OFD1, PCARE, POC1B, POMGNT1, RAB28, RP1, RP1L1, RP2, RPGRIP1, SDCCAG8, SPATA7, TOPORS, TTLL5, TUB, TULP1	10.57
11	Fundus dystrophy	Enrichment	AHI1, ALMS1, ARL2BP, BBS4, CC2D2A, CEP164, CEP290, CEP78, CFAP410, CNGA1, CNGB1, CRX, FAM161A, INPP5E, IQCB1, KIAA0586, KIZ, LCA5, NEK2, NPHP1, NPHP4, OFD1, PCARE, POC1B, POMGNT1, RAB28, RP1, RP1L1, RP2, RPGRIP1, SDCCAG8, SPATA7, TOPORS, TTLL5, TUB, TULP1	10.57
12	Orofaciodigital syndrome vi	Enrichment	CPLANE1, KIAA0753, KIF7, OFD1, TCTN3, TMEM216, TMEM231, TOPORS	10.56
13	Ciliopathy	Enrichment	CC2D2A, CEP83, KATNIP, RPGRIP1L, TBC1D32, TCTN3, TMEM231	10.55
14	Infantile nephronophthisis	Enrichment	ANKS6, CEP83, INVS, NEK8, NPHP3, ZNF423	10.52
15	Arima syndrome	Enrichment	CC2D2A, CEP290, TMEM138, TMEM216, TMEM231, TMEM237, ZNF423	10.35
16	Coach syndrome 1	Enrichment	CC2D2A, INPP5E, OFD1, RPGRIP1L, TMEM67	10.14
17	Joubert syndrome with ocular defect	Enrichment	AHI1, CEP120, CEP41, INPP5E, MKS1	10.14
18	Polycystic kidney disease	Enrichment	CC2D2A, CEP290, NPHP3, PKD1, PKD2, PKHD1	8.32
19	Stargardt disease 1	Enrichment	ALMS1, CRX, LCA5, PCARE, SPATA7, TULP1	6.85
20	Visceral heterotaxy 5	Enrichment	ANKS3, CFAP52, CFAP53, DNAAF19, NME7, PKD1L1	6.76
21	Leber congenital amaurosis 1	Enrichment	CRX, LCA5, RPGRIP1, TULP1	6.52
22	Cystic kidney disease	Enrichment	CC2D2A, PKD1, PKHD1, TMEM67	6.27
23	Meckel syndrome, type 6	Enrichment	CC2D2A, CEP290, TCTN2	6.26
24	Joubert syndrome 4	Enrichment	NPHP1, RPGRIP1L, TMEM237	5.66
25	Oligohydramnios	Enrichment	CC2D2A, PKHD1, TMEM67	5.66
26	Orofaciodigital syndrome	Enrichment	OFD1, TMEM107, WDPCP	5.66
27	Autosomal dominant polycystic kidney disease	Enrichment	NEK8, PKD1, PKD2, PKHD1	5.25
28	Eye disease	Enrichment	AHI1, ALMS1, RP2, RPGRIP1, TULP1	5.03
29	Polycystic kidney disease 4 with or without polycystic liver disease	Enrichment	PKD1, PKD2, PKHD1	4.53
30	Polydactyly	Enrichment	CC2D2A, CPLANE1, MKS1	4.35
31	Pallister-hall-like syndrome	Enrichment	SCLT1, SMO	4.17
32	Orofaciodigital syndrome ii	Enrichment	INTU, NEK1	4.17
33	Leber congenital amaurosis 6	Enrichment	MKS1, RPGRIP1	4.17
34	Joubert syndrome 10	Enrichment	CC2D2A, OFD1	4.17
35	Senior-boichis syndrome	Enrichment	DCDC2, TMEM67	4.17
36	Short-rib thoracic dysplasia 6 with or without polydactyly	Enrichment	EVC, EVC2, NEK1	3.94
37	Bardet-biedl syndrome 1	Enrichment	BBS4, CCDC28B, KIF7	3.83
38	Short-rib thoracic dysplasia 1 with or without polydactyly	Enrichment	CEP120, EVC2, KIAA0586, KIAA0753	3.82
39	Acrocallosal syndrome	Enrichment	GLI3, KIF7	3.70
40	Hydrolethalus syndrome	Enrichment	HYLS1, KIF7	3.70
41	End stage renal disease	Enrichment	ALMS1, PKD1	3.70
42	Renal-hepatic-pancreatic dysplasia	Enrichment	NEK8, NPHP3	3.70
43	Late-onset nephronophthisis	Enrichment	NPHP3, XPNPEP3	3.70
44	Polydactyly, postaxial, type a1	Enrichment	CC2D2A, GLI3, TULP1	3.63
45	Kidney disease	Enrichment	CEP290, NPHP4, PKD1	3.63
46	Microform holoprosencephaly	Enrichment	GLI2, SUFU, ZIC2	3.55
47	Dandy-walker syndrome	Enrichment	CSPP1, HYLS1, PIBF1	3.47
48	Orofaciodigital syndrome iii	Enrichment	OFD1, TMEM231	3.40
49	Bardet-biedl syndrome 14	Enrichment	CEP290, TMEM67	3.40
50	Anencephaly	Enrichment	CC2D2A, HYLS1	3.40
51	Polycystic liver disease 1 with or without kidney cysts	Enrichment	PKD1, PKD2	3.18
52	Polycystic kidney disease 3 with or without polycystic liver disease	Enrichment	PKD1, PKHD1	3.18
53	Polycystic liver disease 1	Enrichment	PKD1, PKD2	3.18
54	Joubert syndrome with jeune asphyxiating thoracic dystrophy	Enrichment	CSPP1, KIAA0586	3.18
55	Cone dystrophy	Enrichment	CFAP410, RAB28, RPGRIP1	3.01
56	Weyers acrofacial dysostosis	Enrichment	EVC, EVC2	3.00
57	Renal dysplasia, cystic	Enrichment	CEP290, PKD1	3.00
58	Multicystic kidney dysplasia	Enrichment	PKD1, PKD2	3.00
59	Multicystic dysplastic kidney	Enrichment	PKD1, PKD2	3.00
60	Jeune thoracic dystrophy	Enrichment	EVC2, KIAA0586, KIAA0753	2.96
61	Polycystic kidney disease 1 with or without polycystic liver disease	Enrichment	PKD1, PKD2	2.86
62	Polycystic kidney disease 1	Enrichment	PKD1, PKD2	2.86
63	Asphyxiating thoracic dystrophy	Enrichment	EVC2, KIAA0586, KIAA0753	2.81
64	Short-rib thoracic dysplasia 12	Enrichment	EVC2, NEK1	2.74
65	Congenital nervous system abnormality	Enrichment	CEP290, POMGNT1, TMEM216, TMEM67, ZIC2	2.74
66	Nervous system disease	Enrichment	CEP290, POMGNT1, TMEM216, TMEM67, ZIC2	2.74
67	Ellis-van creveld syndrome	Enrichment	EVC, EVC2	2.63
68	Cakut	Enrichment	NPHP1, NPHP4, TMEM231	2.57
69	Epilepsy, myoclonic juvenile	Enrichment	CILK1, EFHC1	2.45
70	Meningioma	Enrichment	SMO, SUFU	2.37
71	Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly	Enrichment	CC2D2A, INPP5E	2.30
72	Clubfoot	Enrichment	CC2D2A, INPP5E	2.30
73	Chronic kidney disease	Enrichment	MKS1, PKD2	2.30
74	Medulloblastoma	Enrichment	GPR161, SUFU	2.24
75	Septopreoptic holoprosencephaly	Enrichment	GLI2, ZIC2	2.18
76	Midline interhemispheric variant of holoprosencephaly	Enrichment	GLI2, ZIC2	2.18
77	Hydrocephalus, congenital, 1	Enrichment	KIF7, OFD1	2.12
78	Hypertension	Enrichment	PKD1, PKD2	2.12
79	Lobar holoprosencephaly	Enrichment	GLI2, ZIC2	2.12
80	Pallister-hall syndrome	Enrichment	GLI3	2.08
81	Greig cephalopolysyndactyly syndrome	Enrichment	GLI3	2.08
82	Pneumothorax, primary spontaneous	Enrichment	FLCN	2.08
83	Congenital heart defects, hamartomas of tongue, and polysyndactyly	Enrichment	WDPCP	2.08
84	Retinitis pigmentosa 23	Enrichment	OFD1	2.08
85	Intellectual developmental disorder, x-linked 99	Enrichment	USP9X	2.08
86	Simpson-golabi-behmel syndrome, type 2	Enrichment	OFD1	2.08
87	Curry-jones syndrome	Enrichment	SMO	2.08
88	Joubert syndrome 7	Enrichment	RPGRIP1L	2.08
89	Epilepsy, juvenile absence 1	Enrichment	EFHC1	2.08
90	Nephronophthisis 7	Enrichment	GLIS2	2.08
91	Joubert syndrome 2	Enrichment	TMEM216	2.08
92	Joubert syndrome 3	Enrichment	AHI1	2.08
93	Polydactyly, preaxial iv	Enrichment	GLI3	2.08
94	Senior-loken syndrome 5	Enrichment	IQCB1	2.08
95	Leber congenital amaurosis 15	Enrichment	TULP1	2.08
96	Retinitis pigmentosa 82 with or without situs inversus	Enrichment	ARL2BP	2.08
97	Hydrolethalus syndrome 2	Enrichment	KIF7	2.08
98	Orofaciodigital syndrome v	Enrichment	DDX59	2.08
99	Orofaciodigital syndrome xiv	Enrichment	C2CD3	2.08
100	Renal-hepatic-pancreatic dysplasia 2	Enrichment	NEK8	2.08
101	Microcephaly and chorioretinopathy, autosomal recessive, 2	Enrichment	PLK4	2.08
102	Short-rib thoracic dysplasia 14 with polydactyly	Enrichment	KIAA0586	2.08
103	Ciliary dyskinesia, primary, 17	Enrichment	DNAAF19	2.08
104	Heterotaxy, visceral, 6, autosomal	Enrichment	CFAP53	2.08
105	Meckel syndrome, type 3	Enrichment	TMEM67	2.08
106	Leber congenital amaurosis 7	Enrichment	CRX	2.08
107	Arthrogryposis, perthes disease, and upward gaze palsy	Enrichment	NEK9	2.08
108	Nevus comedonicus	Enrichment	NEK9	2.08
109	Culler-jones syndrome	Enrichment	GLI2	2.08
110	Bardet-biedl syndrome 4	Enrichment	BBS4	2.08
111	Joubert syndrome 6	Enrichment	TMEM67	2.08
112	Orofaciodigital syndrome xv	Enrichment	KIAA0753	2.08
113	Cone-rod dystrophy and hearing loss 1	Enrichment	CEP78	2.08
114	Cone-rod dystrophy 18	Enrichment	RAB28	2.08
115	Nephronophthisis 9	Enrichment	NEK8	2.08
116	Retinitis pigmentosa 98	Enrichment	TMEM216	2.08
117	Joubert syndrome 38	Enrichment	KIAA0753	2.08
118	Retinitis pigmentosa 88	Enrichment	RP1L1	2.08
119	Rhyns syndrome	Enrichment	TMEM67	2.08
120	Retinitis pigmentosa 93	Enrichment	CC2D2A	2.08
121	Joubert syndrome 32	Enrichment	SUFU	2.08
122	Birt-hogg-dube syndrome	Enrichment	FLCN	2.08
123	Epilepsy, juvenile myoclonic 10	Enrichment	CILK1	2.08
124	Meckel syndrome, type 9	Enrichment	B9D1	2.08
125	Spermatogenic failure 27	Enrichment	AK7	2.08
126	Al-gazali-bakalinova syndrome	Enrichment	KIF7	2.08
127	Orofaciodigital syndrome ix	Enrichment	TBC1D32	2.08
128	Intellectual developmental disorder, x-linked 99, syndromic, female-restricted	Enrichment	USP9X	2.08
129	Lowe oculocerebrorenal syndrome	Enrichment	OCRL	2.08
130	Short-rib thoracic dysplasia 21 without polydactyly	Enrichment	KIAA0753	2.08
131	Joubert syndrome 9	Enrichment	CC2D2A	2.08
132	Spinocerebellar ataxia 11	Enrichment	TTBK2	2.08
133	Coach syndrome 2	Enrichment	CC2D2A	2.08
134	Coach syndrome 3	Enrichment	RPGRIP1L	2.08
135	Morbid obesity and spermatogenic failure	Enrichment	CEP19	2.08
136	Bardet-biedl syndrome 15	Enrichment	WDPCP	2.08
137	Joubert syndrome 33	Enrichment	PIBF1	2.08
138	Cone-rod dystrophy 13	Enrichment	RPGRIP1	2.08
139	Meckel syndrome, type 2	Enrichment	TMEM216	2.08
140	Senior-loken syndrome 4	Enrichment	NPHP4	2.08
141	Ulnar/fibular ray defect and brachydactyly	Enrichment	RP1L1	2.08
142	Impaired intellectual development, truncal obesity, retinal dystrophy, and micropenis syndrome	Enrichment	INPP5E	2.08
143	Holoprosencephaly 9	Enrichment	GLI2	2.08
144	Retinitis pigmentosa 31	Enrichment	TOPORS	2.08
145	Joubert syndrome 15	Enrichment	CEP41	2.08
146	Endocrine-cerebroosteodysplasia	Enrichment	CILK1	2.08
147	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis	Enrichment	POC1A	2.08
148	Retinitis pigmentosa 54	Enrichment	PCARE	2.08
149	Joubert syndrome 16	Enrichment	TMEM138	2.08
150	Occult macular dystrophy	Enrichment	RP1L1	2.08
151	Nephronophthisis 14	Enrichment	ZNF423	2.08
152	Nephronophthisis 15	Enrichment	CEP164	2.08
153	Alsahan-harris syndrome	Enrichment	TBC1D32	2.08
154	Retinitis pigmentosa 67	Enrichment	NEK2	2.08
155	Cone-rod dystrophy 19	Enrichment	TTLL5	2.08
156	Microcephaly and chorioretinopathy 2	Enrichment	PLK4	2.08
157	Meckel syndrome, type 5	Enrichment	RPGRIP1L	2.08
158	Nephronophthisis 11	Enrichment	TMEM67	2.08
159	Peritonitis	Enrichment	TMEM67	2.08
160	Meckel syndrome, type 10	Enrichment	B9D2	2.08
161	Retinitis pigmentosa 100	Enrichment	TBC1D32	2.08
162	Retinitis pigmentosa 45	Enrichment	CNGB1	2.08
163	Joubert syndrome 27	Enrichment	B9D1	2.08
164	Cranioectodermal dysplasia 6	Enrichment	CILK1	2.08
165	Meckel syndrome, type 8	Enrichment	TCTN2	2.08
166	Joubert syndrome 13	Enrichment	TCTN1	2.08
167	Lethal congenital contracture syndrome 10	Enrichment	NEK9	2.08
168	Short-rib thoracic dysplasia 13 with or without polydactyly	Enrichment	CEP120	2.08
169	Joubert syndrome 23	Enrichment	KIAA0586	2.08
170	Osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck type	Enrichment	TAPT1	2.08
171	Joubert syndrome 31	Enrichment	CEP120	2.08
172	Amyotrophic lateral sclerosis 24	Enrichment	NEK1	2.08
173	Polycystic kidney disease 8	Enrichment	NEK8	2.08
174	Juvenile absence epilepsy	Enrichment	EFHC1	2.08
175	Heterotaxy, visceral, 10, autosomal, with male infertility	Enrichment	CFAP52	2.08
176	Joubert syndrome 24	Enrichment	TCTN2	2.08
177	Multiple epiphyseal dysplasia, al-gazali type	Enrichment	KIF7	2.08
178	Nephronophthisis 18	Enrichment	CEP83	2.08
179	Ulnar/fibula ray defect-brachydactyly syndrome	Enrichment	RP1L1	2.08
180	Retinitis pigmentosa with or without situs inversus	Enrichment	ARL2BP	2.08
181	Female-restricted syndromic x-linked intellectual disability 99	Enrichment	USP9X	2.08
182	Cephalocele	Enrichment	PIBF1	2.08
183	Pancreatitis	Enrichment	TMEM67	2.08
184	Renovascular hypertension	Enrichment	PKD1	2.08
185	Familial spontaneous pneumothorax	Enrichment	FLCN	2.08
186	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	Enrichment	GLI2	2.08
187	Polycystic liver disease	Enrichment	PKD2, PKHD1	2.07
188	Autosomal dominant polycystic liver disease	Enrichment	PKD2, PKHD1	2.07
189	Alobar holoprosencephaly	Enrichment	GLI2, ZIC2	2.07
190	Semilobar holoprosencephaly	Enrichment	GLI2, ZIC2	2.02
191	Spastic ataxia	Enrichment	CEP290, MKS1, TMEM67	2.02
192	Craniosynostosis	Enrichment	GLI2, GLI3	1.93
193	Visceral heterotaxy	Enrichment	CFAP53, PKD1L1	1.85
194	Birt-hogg-dube syndrome 1	Enrichment	FLCN	1.78
195	Stromme syndrome	Enrichment	CENPF	1.78
196	Nephronophthisis 1	Enrichment	NPHP1	1.78
197	Chylomicron retention disease	Enrichment	DCDC2	1.78
198	Muscular dystrophy-dystroglycanopathy , type a, 3	Enrichment	POMGNT1	1.78
199	Spondyloepiphyseal dysplasia tarda, x-linked	Enrichment	OFD1	1.78
200	Retinitis pigmentosa 2	Enrichment	RP2	1.78
201	Orofaciodigital syndrome i	Enrichment	OFD1	1.78
202	Dent disease 2	Enrichment	OCRL	1.78
203	Nephronophthisis 4	Enrichment	NPHP4	1.78
204	Nephronophthisis-like nephropathy 1	Enrichment	XPNPEP3	1.78
205	Leber congenital amaurosis 3	Enrichment	SPATA7	1.78
206	Holoprosencephaly 5	Enrichment	ZIC2	1.78
207	Joubert syndrome 14	Enrichment	TMEM237	1.78
208	Joubert syndrome 17	Enrichment	CPLANE1	1.78
209	Lethal congenital contracture syndrome 8	Enrichment	ADCY6	1.78
210	Hydrolethalus syndrome 1	Enrichment	HYLS1	1.78
211	White-sutton syndrome	Enrichment	GLI2	1.78
212	Joubert syndrome 18	Enrichment	TCTN3	1.78
213	Muscular dystrophy-dystroglycanopathy , type b, 3	Enrichment	POMGNT1	1.78
214	Meckel syndrome, type 11	Enrichment	TMEM231	1.78
215	Orofaciodigital syndrome iv	Enrichment	TCTN3	1.78
216	Deafness, autosomal recessive 66	Enrichment	DCDC2	1.78
217	Neurodevelopmental disorder with microcephaly and gray sclerae	Enrichment	HYLS1	1.78
218	Heterotaxy, visceral, 8, autosomal	Enrichment	PKD1L1	1.78
219	Carpenter syndrome 1	Enrichment	RAB23	1.78
220	Joubert syndrome 26	Enrichment	KATNIP	1.78
221	Nephronophthisis 16	Enrichment	ANKS6	1.78
222	Polycystic liver disease 2 with or without kidney cysts	Enrichment	LCA5	1.78
223	Spondylometaphyseal dysplasia, axial	Enrichment	CFAP410	1.78
224	Nephronophthisis 19	Enrichment	DCDC2	1.78
225	Orofaciodigital syndrome xvi	Enrichment	TMEM107	1.78
226	Developmental and epileptic encephalopathy 88	Enrichment	WDPCP	1.78
227	Retinitis pigmentosa 49	Enrichment	CNGA1	1.78
228	Retinal dystrophy with or without macular staphyloma	Enrichment	CFAP410	1.78
229	Leber congenital amaurosis 5	Enrichment	LCA5	1.78
230	Retinitis pigmentosa 14	Enrichment	TULP1	1.78
231	Tibial hemimelia	Enrichment	GLI3	1.78
232	Joubert syndrome 20	Enrichment	TMEM231	1.78
233	Joubert syndrome 21	Enrichment	CSPP1	1.78
234	Senior-loken syndrome 7	Enrichment	SDCCAG8	1.78
235	Spondyloepiphyseal dysplasia tarda	Enrichment	OFD1	1.78
236	Synpolydactyly	Enrichment	GLI3	1.78
237	Retinitis pigmentosa 28	Enrichment	FAM161A	1.78
238	Bardet-biedl syndrome 13	Enrichment	MKS1	1.78
239	Congenital fibrosarcoma	Enrichment	SUFU	1.78
240	Retinitis pigmentosa 76	Enrichment	POMGNT1	1.78
241	Bardet-biedl syndrome 16	Enrichment	SDCCAG8	1.78
242	Hypopituitarism	Enrichment	TBC1D32	1.78
243	Retinal dystrophy and obesity	Enrichment	TUB	1.78
244	Short-rib thoracic dysplasia 7 with or without polydactyly	Enrichment	INTU	1.78
245	Dextrocardia	Enrichment	CFAP53	1.78
246	Joubert syndrome 28	Enrichment	MKS1	1.78
247	Sclerosing cholangitis, neonatal	Enrichment	DCDC2	1.78
248	Polycystic kidney disease 3	Enrichment	PKD1	1.78
249	Intellectual developmental disorder, autosomal recessive 77	Enrichment	CEP104	1.78
250	Congenital muscular dystrophy-dystroglycanopathy type a3	Enrichment	POMGNT1	1.78
251	Basal cell nevus syndrome 2	Enrichment	SUFU	1.78
252	Postaxial polydactyly type b	Enrichment	GLI3	1.78
253	Short femur	Enrichment	INPP5E	1.78
254	Cerebellar malformation	Enrichment	TMEM67	1.78
255	Joubert syndrome 29	Enrichment	TMEM107	1.78
256	Acute megakaryoblastic leukemia in children without down syndrome	Enrichment	GLIS2	1.78
257	Isolated neonatal sclerosing cholangitis	Enrichment	DCDC2	1.78
258	Hirschsprung disease 1	Enrichment	GLI3, SMO	1.62
259	Severe covid-19	Enrichment	CC2D2A, CENPF	1.62
260	Alstrom syndrome	Enrichment	ALMS1	1.61
261	Retinitis pigmentosa 1	Enrichment	RP1	1.61
262	Homocystinuria due to cystathionine beta-synthase deficiency	Enrichment	PKHD1	1.61
263	Simpson-golabi-behmel syndrome, type 1	Enrichment	OFD1	1.61
264	Aarskog-scott syndrome	Enrichment	GLI3	1.61
265	Dyslexia 2	Enrichment	DCDC2	1.61
266	Polycystic kidney disease, infantile severe, with tuberous sclerosis	Enrichment	PKD1	1.61
267	Retinitis pigmentosa 3	Enrichment	RP2	1.61
268	Caroli disease, isolated	Enrichment	PKHD1	1.61
269	Meckel syndrome, type 7	Enrichment	NPHP3	1.61
270	Nephronophthisis 2	Enrichment	INVS	1.61
271	Senior-loken syndrome 6	Enrichment	CEP290	1.61
272	Nephronophthisis 3	Enrichment	NPHP3	1.61
273	Spinocerebellar ataxia 10	Enrichment	ATXN10	1.61
274	Joubert syndrome 5	Enrichment	CEP290	1.61
275	Muscular dystrophy-dystroglycanopathy , type c, 3	Enrichment	POMGNT1	1.61
276	Retinitis pigmentosa 69	Enrichment	KIZ	1.61
277	Tuberous sclerosis 2	Enrichment	PKD1	1.61
278	Cone-rod dystrophy 20	Enrichment	POC1B	1.61
279	Joubert syndrome 25	Enrichment	CEP104	1.61
280	Polycystic kidney disease 2 with or without polycystic liver disease	Enrichment	PKD2	1.61
281	Joubert syndrome 36	Enrichment	TBC1D32	1.61
282	Orofaciodigital syndrome xvii	Enrichment	INTU	1.61
283	Short-rib thoracic dysplasia 20 with polydactyly	Enrichment	INTU	1.61
284	Dent disease	Enrichment	OCRL	1.61
285	Caroli disease	Enrichment	PKHD1	1.61
286	Umbilical hernia	Enrichment	GLI3	1.61
287	Polycystic kidney disease 4	Enrichment	PKHD1	1.61
288	Polycystic kidney disease 2	Enrichment	PKD2	1.61
289	Congenital muscular dystrophy-dystroglycanopathy type a	Enrichment	POMGNT1	1.61
290	Interstitial lung disease	Enrichment	INPP5E	1.61
291	Potocki-lupski syndrome	Enrichment	FLCN	1.61
292	Chromophobe renal cell carcinoma	Enrichment	FLCN	1.61
293	Desmoplastic/nodular medulloblastoma	Enrichment	SUFU	1.61
294	Cog7-congenital disorder of glycosylation	Enrichment	CEP290	1.61
295	Respiratory failure	Enrichment	INPP5E	1.61
296	Occipital encephalocele	Enrichment	CEP290	1.61
297	Hypomyelination neuropathy-arthrogryposis syndrome	Enrichment	ADCY6	1.61
298	Hyperpigmentation of the skin	Enrichment	USP9X	1.61
299	Connective tissue disease	Enrichment	NEK1, OFD1	1.54
300	Retinitis pigmentosa 91	Enrichment	CRX	1.49
301	Renal-hepatic-pancreatic dysplasia 1	Enrichment	NPHP3	1.49
302	Krabbe disease	Enrichment	SPATA7	1.49
303	Cystinuria	Enrichment	CENPF	1.49
304	Erythrocytosis, familial, 2	Enrichment	CEP120	1.49
305	Astigmatism	Enrichment	SCLT1	1.49
306	Amyotrophy, monomelic	Enrichment	CPLANE1	1.49
307	Meckel syndrome, type 4	Enrichment	CEP290	1.49
308	Pregnancy loss, recurrent 3	Enrichment	PKHD1	1.49
309	Ciliary dyskinesia, primary, 29	Enrichment	CENPF	1.49
310	Meckel syndrome 13	Enrichment	TMEM107	1.49
311	Syndactyly	Enrichment	TULP1	1.49
312	Color blindness	Enrichment	RPGRIP1	1.49
313	Tuberous sclerosis	Enrichment	PKD1	1.49
314	Pilocytic astrocytoma	Enrichment	FLCN	1.49
315	Autosomal recessive chorioretinopathy-microcephaly syndrome	Enrichment	PLK4	1.49
316	Oculomotor apraxia	Enrichment	SUFU	1.49
317	Male infertility due to gonadal dysgenesis or sperm disorder	Enrichment	KIF7	1.49
318	Choroidal dystrophy, central areolar, 1	Enrichment	TTLL5	1.39
319	Leber congenital amaurosis 10	Enrichment	CEP290	1.39
320	Goldberg-shprintzen syndrome	Enrichment	NEK9	1.39
321	Holoprosencephaly	Enrichment	ZIC2	1.39
322	Polyhydramnios	Enrichment	HYLS1	1.39
323	Night blindness	Enrichment	CEP290	1.39
324	Hemangioma	Enrichment	PKD1	1.39
325	Farsightedness	Enrichment	SCLT1	1.39
326	Basal cell nevus syndrome 1	Enrichment	SUFU	1.31
327	Holoprosencephaly 1	Enrichment	ZIC2	1.31
328	Patent ductus arteriosus	Enrichment	INPP5E	1.31
329	Childhood absence epilepsy	Enrichment	EFHC1	1.31
330	Short rib-polydactyly syndrome	Enrichment	NEK1	1.31
331	Congenital muscular dystrophy with cerebellar involvement	Enrichment	POMGNT1	1.31
332	Infertility	Enrichment	NPHP4	1.31
333	Optic atrophy plus syndrome	Enrichment	NPHP3, RP1L1	1.29
334	Cranioectodermal dysplasia 1	Enrichment	CILK1	1.25
335	Usher syndrome, type iiia	Enrichment	CEP78	1.25
336	Leukoencephalopathy, brain calcifications, and cysts	Enrichment	TMEM107	1.25
337	Brachydactyly	Enrichment	TULP1	1.25
338	Muscular dystrophy-dystroglycanopathy	Enrichment	POMGNT1	1.25
339	Cranioectodermal dysplasia	Enrichment	CILK1	1.25
340	Motor neuron disease	Enrichment	NEK1	1.25
341	Retinal degeneration	Enrichment	TULP1	1.25
342	Hereditary clear cell renal cell carcinoma	Enrichment	FLCN	1.25
343	Congenital muscular dystrophy due to dystroglycanopathy	Enrichment	POMGNT1	1.25
344	Moyamoya angiopathy	Enrichment	CEP78	1.25
345	Spastic paraplegia 4, autosomal dominant	Enrichment	OFD1	1.19
346	Isolated growth hormone deficiency, type ia	Enrichment	POC1A	1.19
347	Immunodeficiency 47	Enrichment	CEP290	1.19
348	Combined pituitary hormone deficiency	Enrichment	GLI2	1.19
349	Cat eye syndrome	Enrichment	TMEM67	1.10
350	Stickler syndrome	Enrichment	ALMS1	1.10
351	Polymicrogyria	Enrichment	OFD1	1.10
352	Muscle eye brain disease	Enrichment	POMGNT1	1.10
353	Primary bone dysplasia	Enrichment	INPP5E	1.10
354	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	Enrichment	CFAP410, NEK1	1.08
355	Meningioma, familial	Enrichment	SUFU	1.06
356	Osteochondrodysplasia	Enrichment	INPP5E	1.06
357	Short-rib thoracic dysplasia 3 with or without polydactyly	Enrichment	NEK1	1.02
358	Inherited cancer-predisposing syndrome	Enrichment	FLCN, PKD1, SUFU	1.02
359	Microphthalmia/coloboma 12	Enrichment	TMEM67	0.99
360	Diaphragmatic hernia, congenital	Enrichment	GLI3	0.99
361	Osteoporosis	Enrichment	OFD1	0.96
362	Walker-warburg syndrome	Enrichment	POMGNT1	0.96
363	Seckel syndrome	Enrichment	PLK4	0.96
364	Pituitary stalk interruption syndrome	Enrichment	GPR161	0.96
365	Coloboma of macula	Enrichment	TMEM67	0.93
366	Renal cell carcinoma, nonpapillary	Enrichment	FLCN	0.93
367	Hydrocephalus	Enrichment	POMGNT1	0.93
368	Creatine phosphokinase, elevated serum	Enrichment	PKD1	0.91
369	Isolated elevated serum creatine phosphokinase levels	Enrichment	PKD1	0.91
370	Primary ciliary dyskinesia	Enrichment	DNAAF19, OFD1	0.89
371	Cleft palate, isolated	Enrichment	INPP5E	0.88
372	Heart, malformation of	Enrichment	HYLS1	0.86
373	Autosomal recessive limb-girdle muscular dystrophy	Enrichment	POMGNT1	0.84
374	Leukodystrophy	Enrichment	ALMS1	0.82
375	Focal segmental glomerulosclerosis	Enrichment	SDCCAG8	0.82
376	Colorectal cancer	Enrichment	FLCN, PKHD1	0.79
377	Non-syndromic male infertility due to sperm motility disorder	Enrichment	AK7	0.76
378	Strabismus	Enrichment	KIF7	0.70
379	Dystonia	Enrichment	CEP104	0.60
380	Non-syndromic x-linked intellectual disability	Enrichment	USP9X	0.59
381	Microcephaly	Enrichment	CC2D2A, ZIC2	0.57
382	Nonsyndromic hearing loss	Enrichment	DCDC2	0.53
383	Sensorineural hearing loss	Enrichment	CEP78	0.48
384	Male infertility with azoospermia or oligozoospermia due to single gene mutation	Enrichment	GLI2	0.43
385	Autosomal recessive non-syndromic intellectual disability	Enrichment	CEP104	0.42
386	Rare autosomal recessive non-syndromic sensorineural deafness type dfnb	Enrichment	DCDC2	0.28
387	Ovarian cancer	Enrichment	FLCN	0.25
388	Autism spectrum disorder	Enrichment	CEP104	0.22

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

Ciliopathies

Pathway Network for Ciliopathies

Member Pathways for Ciliopathies

Pathways in the Ciliopathies SuperPath

Associated Genes for Ciliopathies

Associated Disorders for Ciliopathies

Disorders associated with Ciliopathies SuperPath

STRING Interaction Network for Ciliopathies

Sources for Ciliopathies