Ciliary landscape

No Pathway Network information available for Ciliary landscape

Pathways in the Ciliary landscape SuperPath

#	Name	Source	Genes
1	Ciliary landscape	WikiPathways	AAR2 ACSL3 AFG3L2 AGPAT2 AIMP1 ANKS3 ANKS6 APC APMAP ARFGAP3 ARHGDIA ARL8B ARMC8 BBIP1 BBS1 BBS2 BBS4 BBS5 BBS7 BBS9 CALM1 CAMK2A CBS CCDC40 CD2BP2 CDH23 CDR2 CEP170 CEP290 CEP97 CLUAP1 CNOT1 CNOT10 CNOT6L COPS2 COPS3 COPS4 COPS6 COPS7A COPS7B COPS8 COX6C CREBBP CTBP2 CTNNB1 CTSA DCAF11 DCAF7 DDX5 DGKE DNPEP DOCK5 DVL3 DYNC1H1 DYNC1I2 DYNC1LI1 DYNC2I1 DYNC2I2 DYNLL1 DYNLL2 DYNLRB1 DYNLRB2 DYNLT1 DYNLT2B DYNLT3 ECHS1 EFHC2 EFTUD2 EHBP1 EHD3 EIF5B EIPR1 ERF EXOC1 EXOC2 EXOC3 EXOC4 EXOC5 EXOC6 EXOC6B EXOC7 EXOC8 EXOSC2 EXOSC4 EXOSC7 EXOSC9 FUZ GDI1 GID4 GID8 GLA GLB1 H3-3A HDAC1 HDAC2 HTRA2 IFT122 IFT140 IFT172 IFT20 IFT22 IFT25 IFT27 IFT43 IFT46 IFT52 IFT56 IFT57 IFT70A IFT70B IFT74 IFT80 IFT81 IFT88 INTU IQCB1 IQGAP1 IQGAP2 IQGAP3 LCA5 LCN2 LRPPRC LSM4 LZTFL1 MAEA MAPRE2 MCM10 MCM2 MCM3 MCM4 MCM5 MCM6 MCM7 MCM8 MCM9 MFAP1 MKLN1 MKS1 MSH2 MYL6 MYL6B NDUFA5 NDUFA9 NEFL NEFM NEK7 NEK8 NFKB1 NINL NME8 NUDC NUP133 NUP88 PAFAH1B1 PGRMC2 POM121 PSMC4 PSMC6 PSMD12 PSMD13 PSMD7 PSMD8 RAB14 RAB21 RAB2A RAB3IL1 RAB8A RABEP2 RAC1 RALB RANBP10 RANBP9 RB1 RBM14 RHBDD2 RMND5A RMND5B RNGTT RPGR SMC4 SNAP29 SNRPB2 SPATA7 SSNA1 STOM TBC1D4 TFAP2A TFAP2B TFAP2C TFAP2D TFAP2E TIPRL TMED1 TNKS1BP1 TRAF3IP1 TTC8 UBE2D2 UBE2H UQCC1 USH1C VAPB VIM VPS4A WDR26 WEE1 WHRN WNK1 XPNPEP3 YAP1 YPEL5 ZMYND19 ZYG11B (see all 212) (see less)

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

#	Symbol	Description	Category	# Related Pathways
1	EIF5B	Eukaryotic Translation Initiation Factor 5B	Protein Coding	1
2	RALB	RAS Like Proto-Oncogene B	Protein Coding	1
3	ARL8B	ARF Like GTPase 8B	Protein Coding	1
4	RAB14	RAB14, Member RAS Oncogene Family	Protein Coding	1
5	VPS4A	Vacuolar Protein Sorting 4 Homolog A	Protein Coding	1
6	ACSL3	Acyl-CoA Synthetase Long Chain Family Member 3	Protein Coding	1
7	TMED1	Transmembrane P24 Trafficking Protein 1	Protein Coding	1
8	TBC1D4	TBC1 Domain Family Member 4	Protein Coding	1
9	IFT140	Intraflagellar Transport 140	Protein Coding	1
10	IQCB1	IQ Motif Containing B1	Protein Coding	1
11	EFTUD2	Elongation Factor Tu GTP Binding Domain Containing 2	Protein Coding	1
12	SNAP29	Synaptosome Associated Protein 29	Protein Coding	1
13	COPS2	COP9 Signalosome Subunit 2	Protein Coding	1
14	AIMP1	Aminoacyl TRNA Synthetase Complex Interacting Multifunctional Protein 1	Protein Coding	1
15	BBIP1	BBSome Interacting Protein 1	Protein Coding	1
16	VAPB	VAMP Associated Protein B And C	Protein Coding	1
17	DYNC2I2	Dynein 2 Intermediate Chain 2	Protein Coding	1
18	IQGAP1	IQ Motif Containing GTPase Activating Protein 1	Protein Coding	1
19	CBS	Cystathionine Beta-Synthase	Protein Coding	1
20	DYNLL1	Dynein Light Chain LC8-Type 1	Protein Coding	1
21	COPS3	COP9 Signalosome Subunit 3	Protein Coding	1
22	DGKE	Diacylglycerol Kinase Epsilon	Protein Coding	1
23	MCM8	Minichromosome Maintenance 8 Homologous Recombination Repair Factor	Protein Coding	1
24	CAMK2A	Calcium/Calmodulin Dependent Protein Kinase II Alpha	Protein Coding	1
25	IFT88	Intraflagellar Transport 88	Protein Coding	1
26	FUZ	Fuzzy Planar Cell Polarity Protein	Protein Coding	1
27	CEP290	Centrosomal Protein 290	Protein Coding	1
28	IFT74	Intraflagellar Transport 74	Protein Coding	1
29	CALM1	Calmodulin 1	Protein Coding	1
30	WEE1	WEE1 G2 Checkpoint Kinase	Protein Coding	1
31	VIM	Vimentin	Protein Coding	1
32	UBE2H	Ubiquitin Conjugating Enzyme E2 H	Protein Coding	1
33	EIPR1	EARP Complex And GARP Complex Interacting Protein 1	Protein Coding	1
34	TFAP2C	Transcription Factor AP-2 Gamma	Protein Coding	1
35	TFAP2B	Transcription Factor AP-2 Beta	Protein Coding	1
36	TFAP2A	Transcription Factor AP-2 Alpha	Protein Coding	1
37	WNK1	WNK Lysine Deficient Protein Kinase 1	Protein Coding	1
38	RMND5B	Required For Meiotic Nuclear Division 5 Homolog B	Protein Coding	1
39	CDH23	Cadherin Related 23	Protein Coding	1
40	XPNPEP3	X-Prolyl Aminopeptidase 3	Protein Coding	1
41	RPGR	Retinitis Pigmentosa GTPase Regulator	Protein Coding	1
42	RB1	RB Transcriptional Corepressor 1	Protein Coding	1
43	RAC1	Rac Family Small GTPase 1	Protein Coding	1
44	RAB2A	RAB2A, Member RAS Oncogene Family	Protein Coding	1
45	BBS4	Bardet-Biedl Syndrome 4	Protein Coding	1
46	BBS2	Bardet-Biedl Syndrome 2	Protein Coding	1
47	BBS1	Bardet-Biedl Syndrome 1	Protein Coding	1
48	RANBP10	RAN Binding Protein 10	Protein Coding	1
49	IFT80	Intraflagellar Transport 80	Protein Coding	1
50	PSMD13	Proteasome 26S Subunit, Non-ATPase 13	Protein Coding	1
51	PSMD12	Proteasome 26S Subunit, Non-ATPase 12	Protein Coding	1
52	PSMD8	Proteasome 26S Subunit, Non-ATPase 8	Protein Coding	1
53	APMAP	Adipocyte Plasma Membrane Associated Protein	Protein Coding	1
54	SPATA7	Spermatogenesis Associated 7	Protein Coding	1
55	IFT122	Intraflagellar Transport 122	Protein Coding	1
56	MCM10	Minichromosome Maintenance 10 Replication Initiation Factor	Protein Coding	1
57	BBS7	Bardet-Biedl Syndrome 7	Protein Coding	1
58	DYNC2I1	Dynein 2 Intermediate Chain 1	Protein Coding	1
59	CCDC40	Coiled-Coil Domain 40 Molecular Ruler Complex Subunit	Protein Coding	1
60	MKS1	MKS Transition Zone Complex Subunit 1	Protein Coding	1
61	CTSA	Cathepsin A	Protein Coding	1
62	LZTFL1	Leucine Zipper Transcription Factor Like 1	Protein Coding	1
63	NME8	NME/NM23 Family Member 8	Protein Coding	1
64	IFT52	Intraflagellar Transport 52	Protein Coding	1
65	COPS7A	COP9 Signalosome Subunit 7A	Protein Coding	1
66	PAFAH1B1	Platelet Activating Factor Acetylhydrolase 1b Regulatory Subunit 1	Protein Coding	1
67	NUP88	Nucleoporin 88	Protein Coding	1
68	NFKB1	Nuclear Factor Kappa B Subunit 1	Protein Coding	1
69	NEFL	Neurofilament Light Chain	Protein Coding	1
70	NEFM	Neurofilament Medium Chain	Protein Coding	1
71	MSH2	MutS Homolog 2	Protein Coding	1
72	MKLN1	Muskelin 1	Protein Coding	1
73	RAB8A	RAB8A, Member RAS Oncogene Family	Protein Coding	1
74	MCM6	Minichromosome Maintenance Complex Component 6	Protein Coding	1
75	MCM4	Minichromosome Maintenance Complex Component 4	Protein Coding	1
76	MCM2	Minichromosome Maintenance Complex Component 2	Protein Coding	1
77	ARHGDIA	Rho GDP Dissociation Inhibitor Alpha	Protein Coding	1
78	LCN2	Lipocalin 2	Protein Coding	1
79	APC	APC Regulator Of Wnt Signaling Pathway	Protein Coding	1
80	EHD3	EH Domain Containing 3	Protein Coding	1
81	HDAC2	Histone Deacetylase 2	Protein Coding	1
82	HDAC1	Histone Deacetylase 1	Protein Coding	1
83	H3-3A	H3.3 Histone A	Protein Coding	1
84	NEK8	NIMA Related Kinase 8	Protein Coding	1
85	HTRA2	HtrA Serine Peptidase 2	Protein Coding	1
86	BBS9	Bardet-Biedl Syndrome 9	Protein Coding	1
87	GLB1	Galactosidase Beta 1	Protein Coding	1
88	GLA	Galactosidase Alpha	Protein Coding	1
89	GDI1	GDP Dissociation Inhibitor 1	Protein Coding	1
90	IFT172	Intraflagellar Transport 172	Protein Coding	1
91	WHRN	Whirlin	Protein Coding	1
92	DYNLT2B	Dynein Light Chain Tctex-Type 2B	Protein Coding	1
93	MCM9	Minichromosome Maintenance 9 Homologous Recombination Repair Factor	Protein Coding	1
94	EXOSC2	Exosome Component 2	Protein Coding	1
95	EHBP1	EH Domain Binding Protein 1	Protein Coding	1
96	RAB21	RAB21, Member RAS Oncogene Family	Protein Coding	1
97	ERF	ETS2 Repressor Factor	Protein Coding	1
98	ANKS6	Ankyrin Repeat And Sterile Alpha Motif Domain Containing 6	Protein Coding	1
99	ECHS1	Enoyl-CoA Hydratase, Short Chain 1	Protein Coding	1
100	DVL3	Dishevelled Segment Polarity Protein 3	Protein Coding	1
101	DYNC1H1	Dynein Cytoplasmic 1 Heavy Chain 1	Protein Coding	1
102	LCA5	Lebercilin LCA5	Protein Coding	1
103	DDX5	DEAD-Box Helicase 5	Protein Coding	1
104	CTNNB1	Catenin Beta 1	Protein Coding	1
105	CTBP2	C-Terminal Binding Protein 2	Protein Coding	1
106	NEK7	NIMA Related Kinase 7	Protein Coding	1
107	MYL6B	Myosin Light Chain 6B	Protein Coding	1
108	CREBBP	CREB Binding Lysine Acetyltransferase	Protein Coding	1
109	BBS5	Bardet-Biedl Syndrome 5	Protein Coding	1
110	IQGAP3	IQ Motif Containing GTPase Activating Protein 3	Protein Coding	1
111	TTC8	Tetratricopeptide Repeat Domain 8	Protein Coding	1
112	IFT43	Intraflagellar Transport 43	Protein Coding	1
113	IFT27	Intraflagellar Transport 27	Protein Coding	1
114	COPS6	COP9 Signalosome Subunit 6	Protein Coding	1
115	AFG3L2	AFG3 Like Matrix AAA Peptidase Subunit 2	Protein Coding	1
116	IQGAP2	IQ Motif Containing GTPase Activating Protein 2	Protein Coding	1
117	AGPAT2	1-Acylglycerol-3-Phosphate O-Acyltransferase 2	Protein Coding	1
118	YAP1	Yes1 Associated Transcriptional Regulator	Protein Coding	1
119	MAEA	Macrophage Erythroblast Attacher, E3 Ubiquitin Ligase	Protein Coding	1
120	DCAF7	DDB1 And CUL4 Associated Factor 7	Protein Coding	1
121	LRPPRC	Leucine Rich Pentatricopeptide Repeat Containing	Protein Coding	1
122	USH1C	USH1 Protein Network Component Harmonin	Protein Coding	1
123	DYNC1I2	Dynein Cytoplasmic 1 Intermediate Chain 2	Protein Coding	1
124	IFT70B	Intraflagellar Transport 70B	Protein Coding	1
125	EXOC8	Exocyst Complex Component 8	Protein Coding	1
126	POM121	POM121 Transmembrane Nucleoporin	Protein Coding	1
127	CEP170	Centrosomal Protein 170	Protein Coding	1
128	IFT70A	Intraflagellar Transport 70A	Protein Coding	1
129	IFT20	Intraflagellar Transport 20	Protein Coding	1
130	RNGTT	RNA Guanylyltransferase And 5''-Phosphatase	Protein Coding	1
131	SSNA1	SS Nuclear Autoantigen 1	Protein Coding	1
132	TNKS1BP1	Tankyrase 1 Binding Protein 1	Protein Coding	1
133	DYNLL2	Dynein Light Chain LC8-Type 2	Protein Coding	1
134	COX6C	Cytochrome C Oxidase Subunit 6C	Protein Coding	1
135	ANKS3	Ankyrin Repeat And Sterile Alpha Motif Domain Containing 3	Protein Coding	1
136	ZMYND19	Zinc Finger MYND-Type Containing 19	Protein Coding	1
137	EXOC3	Exocyst Complex Component 3	Protein Coding	1
138	MAPRE2	Microtubule Associated Protein RP/EB Family Member 2	Protein Coding	1
139	COPS8	COP9 Signalosome Subunit 8	Protein Coding	1
140	NUDC	Nuclear Distribution C, Dynein Complex Regulator	Protein Coding	1
141	EXOC5	Exocyst Complex Component 5	Protein Coding	1
142	RBM14	RNA Binding Motif Protein 14	Protein Coding	1
143	PGRMC2	Progesterone Receptor Membrane Component 2	Protein Coding	1
144	CD2BP2	CD2 Cytoplasmic Tail Binding Protein 2	Protein Coding	1
145	CDR2	Cerebellar Degeneration Related Protein 2	Protein Coding	1
146	TFAP2D	Transcription Factor AP-2 Delta	Protein Coding	1
147	DYNLRB1	Dynein Light Chain Roadblock-Type 1	Protein Coding	1
148	DYNLRB2	Dynein Light Chain Roadblock-Type 2	Protein Coding	1
149	DCAF11	DDB1 And CUL4 Associated Factor 11	Protein Coding	1
150	EFHC2	EF-Hand Domain Containing 2	Protein Coding	1
151	WDR26	WD Repeat Domain 26	Protein Coding	1
152	DOCK5	Dedicator Of Cytokinesis 5	Protein Coding	1
153	IFT56	Intraflagellar Transport 56	Protein Coding	1
154	RABEP2	Rabaptin, RAB GTPase Binding Effector Protein 2	Protein Coding	1
155	ZYG11B	Zyg-11 Family Member B, Cell Cycle Regulator	Protein Coding	1
156	CEP97	Centrosomal Protein 97	Protein Coding	1
157	GID4	GID Complex Subunit 4 Homolog	Protein Coding	1
158	UBE2D2	Ubiquitin Conjugating Enzyme E2 D2	Protein Coding	1
159	DYNLT1	Dynein Light Chain Tctex-Type 1	Protein Coding	1
160	DYNLT3	Dynein Light Chain Tctex-Type 3	Protein Coding	1
161	SNRPB2	Small Nuclear Ribonucleoprotein Polypeptide B2	Protein Coding	1
162	RMND5A	Required For Meiotic Nuclear Division 5 Homolog A	Protein Coding	1
163	IFT22	Intraflagellar Transport 22	Protein Coding	1
164	COPS7B	COP9 Signalosome Subunit 7B	Protein Coding	1
165	EXOC4	Exocyst Complex Component 4	Protein Coding	1
166	RAB3IL1	RAB3A Interacting Protein Like 1	Protein Coding	1
167	RHBDD2	Rhomboid Domain Containing 2	Protein Coding	1
168	PSMD7	Proteasome 26S Subunit, Non-ATPase 7	Protein Coding	1
169	PSMC6	Proteasome 26S Subunit, ATPase 6	Protein Coding	1
170	PSMC4	Proteasome 26S Subunit, ATPase 4	Protein Coding	1
171	IFT46	Intraflagellar Transport 46	Protein Coding	1
172	EXOC2	Exocyst Complex Component 2	Protein Coding	1
173	EXOC1	Exocyst Complex Component 1	Protein Coding	1
174	NUP133	Nucleoporin 133	Protein Coding	1
175	UQCC1	Ubiquinol-Cytochrome C Reductase Complex Assembly Factor 1	Protein Coding	1
176	IFT57	Intraflagellar Transport 57	Protein Coding	1
177	GID8	GID Complex Subunit 8 Homolog	Protein Coding	1
178	EXOC6	Exocyst Complex Component 6	Protein Coding	1
179	EXOSC4	Exosome Component 4	Protein Coding	1
180	EXOSC9	Exosome Component 9	Protein Coding	1
181	IFT25	Intraflagellar Transport 25	Protein Coding	1
182	YPEL5	Yippee Like 5	Protein Coding	1
183	DYNC1LI1	Dynein Cytoplasmic 1 Light Intermediate Chain 1	Protein Coding	1
184	COPS4	COP9 Signalosome Subunit 4	Protein Coding	1
185	NDUFA9	NADH:Ubiquinone Oxidoreductase Subunit A9	Protein Coding	1
186	NDUFA5	NADH:Ubiquinone Oxidoreductase Subunit A5	Protein Coding	1
187	MYL6	Myosin Light Chain 6	Protein Coding	1
188	MFAP1	Microfibril Associated Protein 1	Protein Coding	1
189	MCM7	Minichromosome Maintenance Complex Component 7	Protein Coding	1
190	MCM5	Minichromosome Maintenance Complex Component 5	Protein Coding	1
191	MCM3	Minichromosome Maintenance Complex Component 3	Protein Coding	1
192	TFAP2E	Transcription Factor AP-2 Epsilon	Protein Coding	1
193	SMC4	Structural Maintenance Of Chromosomes 4	Protein Coding	1
194	IFT81	Intraflagellar Transport 81	Protein Coding	1
195	INTU	Inturned Planar Cell Polarity Protein	Protein Coding	1
196	ARFGAP3	ARF GTPase Activating Protein 3	Protein Coding	1
197	TIPRL	TOR Signaling Pathway Regulator	Protein Coding	1
198	TRAF3IP1	TRAF3 Interacting Protein 1	Protein Coding	1
199	AAR2	AAR2 Splicing Factor	Protein Coding	1
200	CNOT10	CCR4-NOT Transcription Complex Subunit 10	Protein Coding	1
201	ARMC8	Armadillo Repeat Containing 8	Protein Coding	1
202	LSM4	LSM4 Homolog, U6 Small Nuclear RNA And MRNA Degradation Associated	Protein Coding	1
203	CNOT6L	CCR4-NOT Transcription Complex Subunit 6 Like	Protein Coding	1
204	DNPEP	Aspartyl Aminopeptidase	Protein Coding	1
205	EXOC7	Exocyst Complex Component 7	Protein Coding	1
206	EXOC6B	Exocyst Complex Component 6B	Protein Coding	1
207	CLUAP1	Clusterin Associated Protein 1	Protein Coding	1
208	CNOT1	CCR4-NOT Transcription Complex Subunit 1	Protein Coding	1
209	EXOSC7	Exosome Component 7	Protein Coding	1
210	NINL	Ninein Like	Protein Coding	1
211	STOM	Stomatin	Protein Coding	1
212	RANBP9	RAN Binding Protein 9	Protein Coding	1

Disorders associated with Ciliary landscape SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Bardet-biedl syndrome	Enrichment	BBIP1, BBS1, BBS2, BBS4, BBS5, BBS7, BBS9, CEP290, IFT172, IFT27, IFT74, IQCB1, LZTFL1, MKS1, TTC8	11.24
2	Retinitis pigmentosa	Enrichment	BBIP1, BBS1, BBS2, BBS4, BBS7, BBS9, CDH23, CEP290, IFT122, IFT140, IFT172, IFT43, IFT81, IFT88, IQCB1, LCA5, MKS1, RPGR, SPATA7, TTC8, USH1C	10.51
3	Short-rib thoracic dysplasia 1 with or without polydactyly	Enrichment	DYNC2I1, DYNC2I2, IFT140, IFT172, IFT27, IFT74, IFT80, IFT81, TRAF3IP1	8.88
4	Jeune thoracic dystrophy	Enrichment	DYNC2I1, DYNC2I2, IFT140, IFT27, IFT74, IFT80, IFT81, TRAF3IP1	8.57
5	Asphyxiating thoracic dystrophy	Enrichment	DYNC2I1, DYNC2I2, IFT140, IFT27, IFT74, IFT80, IFT81, TRAF3IP1	8.13
6	Bardet-biedl syndrome 1	Enrichment	BBS1, BBS2, BBS4, BBS5, BBS7, BBS9	7.67
7	Cranioectodermal dysplasia	Enrichment	IFT122, IFT140, IFT43, IFT52	5.71
8	Hereditary retinal dystrophy	Enrichment	BBS1, BBS2, BBS4, BBS5, BBS7, BBS9, CDH23, CEP290, IFT140, IFT172, IFT81, IQCB1, LCA5, RPGR, SPATA7, TTC8, USH1C	5.51
9	Fundus dystrophy	Enrichment	BBS1, BBS2, BBS4, BBS5, BBS7, BBS9, CDH23, CEP290, IFT140, IFT172, IFT81, IQCB1, LCA5, RPGR, SPATA7, TTC8, USH1C	5.51
10	Short-rib thoracic dysplasia 6 with or without polydactyly	Enrichment	FUZ, IFT172, IFT80, TRAF3IP1	4.58
11	Short-rib thoracic dysplasia 3 with or without polydactyly	Enrichment	DYNC1H1, DYNC2I1, DYNC2I2, DYNLT2B	4.58
12	Short rib-polydactyly syndrome, verma-naumoff type	Enrichment	DYNC2I1, DYNC2I2, IFT80	4.43
13	Short rib-polydactyly syndrome	Enrichment	IFT43, IFT52, IFT81	4.14
14	Usher syndrome	Enrichment	BBS1, CCDC40, CDH23, USH1C, WHRN	3.83
15	Nephronophthisis	Enrichment	ANKS6, CEP290, IFT140, INTU, IQCB1	3.83
16	Bardet-biedl syndrome 22	Enrichment	IFT172, IFT74	3.61
17	Usher syndrome type 2	Enrichment	CDH23, USH1C, WHRN	3.25
18	Leber plus disease	Enrichment	BBS1, CEP290, CLUAP1, IFT140, IQCB1, LCA5, SPATA7	3.15
19	Desmoid disease, hereditary	Enrichment	APC, CTNNB1	3.14
20	Desmoid tumor	Enrichment	APC, CTNNB1	3.14
21	Senior-loken syndrome 1	Enrichment	CEP290, IQCB1, TRAF3IP1	3.02
22	Lynch syndrome 4	Enrichment	MSH2, RB1	2.85
23	Craniopharyngioma	Enrichment	APC, CTNNB1	2.85
24	Short-rib thoracic dysplasia 9 with or without polydactyly	Enrichment	IFT140, IFT172	2.63
25	Hepatoblastoma	Enrichment	APC, CTNNB1, MSH2	2.39
26	Cranioectodermal dysplasia 1	Enrichment	IFT122, IFT140	2.31
27	Short-rib thoracic dysplasia 12	Enrichment	IFT122, IFT80	2.19
28	Infantile nephronophthisis	Enrichment	ANKS6, NEK8	2.19
29	Joubert syndrome 1	Enrichment	CEP290, CLUAP1, IFT172, MKS1	2.12
30	Spastic ataxia	Enrichment	AFG3L2, CEP290, GLB1, MKS1	2.03
31	Ciliary dyskinesia, primary, 3	Enrichment	CCDC40, NFKB1	2.00
32	Meckel syndrome, type 1	Enrichment	CEP290, EXOC4, MKS1	1.99
33	Leukodystrophy, hypomyelinating, 3	Enrichment	AIMP1	1.81
34	Cone-rod dystrophy, x-linked, 1	Enrichment	RPGR	1.81
35	Usher syndrome, type ic	Enrichment	USH1C	1.81
36	Deafness, autosomal recessive 18a	Enrichment	USH1C	1.81
37	Craniosynostosis 4	Enrichment	ERF	1.81
38	Parkinson disease 13, autosomal dominant	Enrichment	HTRA2	1.81
39	Prostate cancer, hereditary, 12	Enrichment	EHBP1	1.81
40	Char syndrome	Enrichment	TFAP2B	1.81
41	Senior-loken syndrome 5	Enrichment	IQCB1	1.81
42	Deafness, autosomal recessive 31	Enrichment	WHRN	1.81
43	Ciliary dyskinesia, primary, 6	Enrichment	NME8	1.81
44	Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual development	Enrichment	YAP1	1.81
45	Spastic ataxia 5, autosomal recessive	Enrichment	AFG3L2	1.81
46	Type 2 diabetes 5	Enrichment	TBC1D4	1.81
47	Lactose intolerance, adult type	Enrichment	MCM6	1.81
48	Renal-hepatic-pancreatic dysplasia 2	Enrichment	NEK8	1.81
49	Bardet-biedl syndrome 17	Enrichment	LZTFL1	1.81
50	Charcot-marie-tooth disease, demyelinating, type 1f	Enrichment	NEFL	1.81
51	Nephrotic syndrome, type 8	Enrichment	ARHGDIA	1.81
52	Bardet-biedl syndrome 4	Enrichment	BBS4	1.81
53	Nephronophthisis 9	Enrichment	NEK8	1.81
54	Spinal muscular atrophy, late-onset, finkel type	Enrichment	VAPB	1.81
55	Fetal akinesia deformation sequence 4	Enrichment	NUP88	1.81
56	Holoprosencephaly 12 with or without pancreatic agenesis	Enrichment	CNOT1	1.81
57	Immunodeficiency 80 with or without congenital cardiomyopathy	Enrichment	MCM10	1.81
58	Orofaciodigital syndrome xviii	Enrichment	IFT57	1.81
59	Retinitis pigmentosa, x-linked, and sinorespiratory infections with or without deafness	Enrichment	RPGR	1.81
60	Short-rib thoracic dysplasia 18 with polydactyly	Enrichment	IFT43	1.81
61	Intellectual developmental disorder, autosomal recessive 63	Enrichment	CAMK2A	1.81
62	Charcot-marie-tooth disease, dominant intermediate g	Enrichment	NEFL	1.81
63	Macular degeneration, atrophic, x-linked	Enrichment	RPGR	1.81
64	Intellectual developmental disorder, x-linked 41	Enrichment	GDI1	1.81
65	Stankiewicz-isidor syndrome	Enrichment	PSMD12	1.81
66	Hyperhomocysteinemia	Enrichment	CBS	1.81
67	Mitochondrial complex i deficiency, nuclear type 26	Enrichment	NDUFA9	1.81
68	Pseudohypoaldosteronism, type iic	Enrichment	WNK1	1.81
69	Galloway-mowat syndrome 8	Enrichment	NUP133	1.81
70	Lipodystrophy, congenital generalized, type 1	Enrichment	AGPAT2	1.81
71	Anisometropia	Enrichment	MCM7	1.81
72	Biliary, renal, neurologic, and skeletal syndrome	Enrichment	IFT56	1.81
73	Bardet-biedl syndrome 8	Enrichment	TTC8	1.81
74	Ovarian dysgenesis 4	Enrichment	MCM9	1.81
75	X-linked retinitis pigmentosa and sinorespiratory infections	Enrichment	RPGR	1.81
76	Uveal coloboma-cleft lip and palate-intellectual disability	Enrichment	YAP1	1.81
77	Amyotrophic lateral sclerosis 8	Enrichment	VAPB	1.81
78	Spinocerebellar ataxia 28	Enrichment	AFG3L2	1.81
79	Immunodeficiency 54	Enrichment	MCM4	1.81
80	Skin creases, congenital symmetric circumferential, 2	Enrichment	MAPRE2	1.81
81	Deafness, autosomal dominant 70	Enrichment	MCM2	1.81
82	Meier-gorlin syndrome 8	Enrichment	MCM5	1.81
83	Ciliary dyskinesia, primary, 15	Enrichment	CCDC40	1.81
84	Mandibulofacial dysostosis, guion-almeida type	Enrichment	EFTUD2	1.81
85	Premature ovarian failure 10	Enrichment	MCM8	1.81
86	Charcot-marie-tooth disease type 1f	Enrichment	NEFL	1.81
87	Cranioectodermal dysplasia 3	Enrichment	IFT43	1.81
88	Bardet-biedl syndrome 18	Enrichment	BBIP1	1.81
89	Bardet-biedl syndrome 7	Enrichment	BBS7	1.81
90	Spastic ataxia 5	Enrichment	AFG3L2	1.81
91	Usher syndrome, type iid	Enrichment	WHRN	1.81
92	Retinitis pigmentosa 51	Enrichment	TTC8	1.81
93	Retinitis pigmentosa 74	Enrichment	BBS2	1.81
94	Retinitis pigmentosa 81	Enrichment	IFT43	1.81
95	Patent ductus arteriosus 2	Enrichment	TFAP2B	1.81
96	Pontocerebellar hypoplasia, type 1d	Enrichment	EXOSC9	1.81
97	Short-rib thoracic dysplasia 8 with or without polydactyly	Enrichment	DYNC2I1	1.81
98	Dync1h1-related disorders	Enrichment	DYNC1H1	1.81
99	Chitayat syndrome	Enrichment	ERF	1.81
100	Mismatch repair cancer syndrome 2	Enrichment	MSH2	1.81
101	Senior-loken syndrome 9	Enrichment	TRAF3IP1	1.81
102	Bryant-li-bhoj neurodevelopmental syndrome 1	Enrichment	H3-3A	1.81
103	Short-rib thoracic dysplasia 16 with or without polydactyly	Enrichment	IFT52	1.81
104	Vissers-bodmer syndrome	Enrichment	CNOT1	1.81
105	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies	Enrichment	EXOSC2	1.81
106	Spondyloepimetaphyseal dysplasia with joint laxity, type 3	Enrichment	EXOC6B	1.81
107	Short-rib thoracic dysplasia 19 with or without polydactyly	Enrichment	IFT81	1.81
108	Joubert syndrome 40	Enrichment	IFT74	1.81
109	Menke-hennekam syndrome 1	Enrichment	CREBBP	1.81
110	Nephrotic syndrome, type 18	Enrichment	NUP133	1.81
111	Polycystic kidney disease 8	Enrichment	NEK8	1.81
112	Neurodevelopmental disorder with seizures and brain atrophy	Enrichment	EXOC7	1.81
113	Neurodevelopmental disorder with microcephaly and structural brain anomalies	Enrichment	DYNC1I2	1.81
114	Spermatogenic failure 58	Enrichment	IFT74	1.81
115	Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy	Enrichment	EXOC8	1.81
116	Intellectual developmental disorder, autosomal dominant 53	Enrichment	CAMK2A	1.81
117	Rectal benign neoplasm	Enrichment	MSH2	1.81
118	Trilateral retinoblastoma	Enrichment	RB1	1.81
119	Tsh producing pituitary tumor	Enrichment	CDH23	1.81
120	Bardet-biedl syndrome 2	Enrichment	BBS2	1.81
121	Adenoid ameloblastoma	Enrichment	CTNNB1	1.81
122	Non-syndromic non-specific multisutural craniosynostosis	Enrichment	FUZ	1.81
123	Exoc6b-related spondyloepimetaphyseal dysplasia with joint laxity	Enrichment	EXOC6B	1.81
124	Rubinstein-taybi syndrome due to 16p13.3 microdeletion	Enrichment	CREBBP	1.81
125	Ascending colon cancer	Enrichment	MSH2	1.81
126	Charcot-marie-tooth disease type 2b5	Enrichment	NEFL	1.81
127	Autosomal dominant adult-onset proximal spinal muscular atrophy	Enrichment	VAPB	1.81
128	Ovarian cyst	Enrichment	MSH2	1.81
129	Familial adenomatous polyposis	Enrichment	APC	1.81
130	Glb1-related disorders	Enrichment	GLB1	1.81
131	Menke-hennekam syndrome	Enrichment	CREBBP	1.81
132	Pancreatic agenesis-holoprosencephaly syndrome	Enrichment	CNOT1	1.81
133	Gardner syndrome	Enrichment	APC	1.81
134	Lissencephaly due to lis1 mutation	Enrichment	PAFAH1B1	1.81
135	5q22 microdeletion syndrome	Enrichment	APC	1.81
136	Genetic syndromic pierre robin syndrome	Enrichment	EFTUD2	1.81
137	Attenuated familial adenomatous polyposis	Enrichment	APC	1.81
138	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom	Enrichment	RAC1	1.81
139	Premature aging	Enrichment	VIM	1.81
140	Cathepsin a-related arteriopathy-strokes-leukoencephalopathy	Enrichment	CTSA	1.81
141	Microcystic stromal tumor	Enrichment	CTNNB1	1.81
142	Lung oat cell carcinoma	Enrichment	RB1	1.81
143	Medulloblastoma	Enrichment	APC, CTNNB1	1.71
144	Usher syndrome, type i	Enrichment	CDH23, USH1C	1.65
145	Autosomal dominant polycystic kidney disease	Enrichment	IFT140, NEK8	1.65
146	Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant	Enrichment	DYNC1H1	1.51
147	Myeloproliferative disorder, chronic, with eosinophilia	Enrichment	MAEA	1.51
148	Muir-torre syndrome	Enrichment	MSH2	1.51
149	Orofaciodigital syndrome ii	Enrichment	INTU	1.51
150	Thumb deformity	Enrichment	CREBBP	1.51
151	Osteopathia striata with cranial sclerosis	Enrichment	CTNNB1	1.51
152	Nephronophthisis 4	Enrichment	BBS9	1.51
153	Nephronophthisis-like nephropathy 1	Enrichment	XPNPEP3	1.51
154	Short-rib thoracic dysplasia 2 with or without polydactyly	Enrichment	IFT80	1.51
155	Leber congenital amaurosis 3	Enrichment	SPATA7	1.51
156	Ventricular tachycardia, catecholaminergic polymorphic, 4	Enrichment	CALM1	1.51
157	Lissencephaly 1	Enrichment	PAFAH1B1	1.51
158	Robinow syndrome, autosomal dominant 3	Enrichment	DVL3	1.51
159	Galactosialidosis	Enrichment	CTSA	1.51
160	Chromosome 13q14 deletion syndrome	Enrichment	RB1	1.51
161	Deafness, autosomal recessive 84a	Enrichment	CDH23	1.51
162	Immunodeficiency, common variable, 12, with autoimmunity	Enrichment	NFKB1	1.51
163	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome	Enrichment	SNAP29	1.51
164	Short-rib thoracic dysplasia 17 with or without polydactyly	Enrichment	DYNLT2B	1.51
165	Leber congenital amaurosis 6	Enrichment	MKS1	1.51
166	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	Enrichment	DYNC1I2	1.51
167	Dyskeratosis congenita, autosomal recessive 2	Enrichment	RMND5B	1.51
168	Bardet-biedl syndrome 5	Enrichment	BBS5	1.51
169	Glycogen storage disease iii	Enrichment	AFG3L2	1.51
170	Long qt syndrome 14	Enrichment	CALM1	1.51
171	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency	Enrichment	ECHS1	1.51
172	Cortical dysplasia, complex, with other brain malformations 13	Enrichment	DYNC1H1	1.51
173	Polycystic kidney disease 9	Enrichment	IFT140	1.51
174	Nephronophthisis 16	Enrichment	ANKS6	1.51
175	Polycystic liver disease 2 with or without kidney cysts	Enrichment	LCA5	1.51
176	Optic atrophy 12	Enrichment	AFG3L2	1.51
177	Intellectual developmental disorder, autosomal dominant 48	Enrichment	RAC1	1.51
178	Retinitis pigmentosa 6	Enrichment	RPGR	1.51
179	Leber congenital amaurosis 5	Enrichment	LCA5	1.51
180	Childhood hepatocellular carcinoma	Enrichment	CTNNB1	1.51
181	Alopecia-intellectual disability syndrome 4	Enrichment	CNOT1	1.51
182	Cranioectodermal dysplasia 5	Enrichment	IFT140	1.51
183	Combined saposin deficiency	Enrichment	CDH23	1.51
184	Spinal muscular atrophy with lower extremity predominant	Enrichment	DYNC1H1	1.51
185	Acute myeloid leukemia with kat6a-crebbp fusion	Enrichment	CREBBP	1.51
186	Cataract 30	Enrichment	VIM	1.51
187	Bardet-biedl syndrome 13	Enrichment	MKS1	1.51
188	Skraban-deardorff syndrome	Enrichment	WDR26	1.51
189	Charcot-marie-tooth disease, axonal, type 2o	Enrichment	DYNC1H1	1.51
190	Nephrotic syndrome, type 7	Enrichment	DGKE	1.51
191	Bardet-biedl syndrome 9	Enrichment	BBS9	1.51
192	Periampullary adenoma	Enrichment	APC	1.51
193	Gastric adenocarcinoma and proximal polyposis of the stomach	Enrichment	APC	1.51
194	Cimdag syndrome	Enrichment	VPS4A	1.51
195	Short-rib thoracic dysplasia 7 with or without polydactyly	Enrichment	INTU	1.51
196	Joubert syndrome 28	Enrichment	MKS1	1.51
197	Esotropia	Enrichment	TFAP2A	1.51
198	17q24.2 microdeletion syndrome	Enrichment	PSMD12	1.51
199	Combined psap deficiency	Enrichment	CDH23	1.51
200	Juvenile nasopharyngeal angiofibroma	Enrichment	CTNNB1	1.51
201	Multiple benign circumferential skin creases on limbs	Enrichment	MAPRE2	1.51
202	Bryant-li-bhoj neurodevelopmental syndrome 2	Enrichment	H3-3A	1.51
203	Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia	Enrichment	EXOC2	1.51
204	Cerebellar malformation	Enrichment	AAR2	1.51
205	Teratoma	Enrichment	CTNNB1	1.51
206	Familial retinoblastoma	Enrichment	RB1	1.51
207	Common variable immunodeficiency 12	Enrichment	NFKB1	1.51
208	Lens subluxation	Enrichment	TFAP2A	1.51
209	Familial patent arterial duct	Enrichment	TFAP2B	1.51
210	Familial isolated pituitary adenoma	Enrichment	CDH23	1.51
211	Hemolytic-uremic syndrome	Enrichment	DGKE	1.51
212	Combined deficiency of sialidase and beta galactosidase	Enrichment	CTSA	1.51
213	Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene	Enrichment	IFT140	1.51
214	Polycystic kidney disease	Enrichment	CEP290, IFT140	1.50
215	Sensorineural hearing loss	Enrichment	AFG3L2, CDH23, NEFL	1.41
216	Lissencephaly	Enrichment	DYNC1H1, PAFAH1B1	1.38
217	Hepatocellular carcinoma	Enrichment	APC, CTNNB1	1.34
218	Microphthalmia	Enrichment	MCM7, TFAP2A	1.34
219	Crouzon syndrome	Enrichment	ERF	1.34
220	Craniosynostosis 1	Enrichment	ERF	1.34
221	Retinoblastoma	Enrichment	RB1	1.34
222	Gm1-gangliosidosis, type i	Enrichment	GLB1	1.34
223	Mucopolysaccharidosis, type ivb	Enrichment	GLB1	1.34
224	Mitochondrial complex iv deficiency, nuclear type 5	Enrichment	LRPPRC	1.34
225	Homocystinuria due to cystathionine beta-synthase deficiency	Enrichment	CBS	1.34
226	Hyper-ige syndrome 2, autosomal recessive, with recurrent infections	Enrichment	CCDC40	1.34
227	Gm1-gangliosidosis, type ii	Enrichment	GLB1	1.34
228	Pompe disease, infantile-onset	Enrichment	CCDC40	1.34
229	Retinitis pigmentosa 3	Enrichment	RPGR	1.34
230	Band heterotopia	Enrichment	PAFAH1B1	1.34
231	Caroli disease, isolated	Enrichment	IFT56	1.34
232	Osteogenic sarcoma	Enrichment	RB1	1.34
233	Senior-loken syndrome 6	Enrichment	CEP290	1.34
234	Joubert syndrome 5	Enrichment	CEP290	1.34
235	Neurodevelopmental disorder with spastic diplegia and visual defects	Enrichment	CTNNB1	1.34
236	Meckel syndrome, type 6	Enrichment	CEP290	1.34
237	Leukodystrophy, hypomyelinating, 2	Enrichment	SNAP29	1.34
238	Cenani-lenz syndactyly syndrome	Enrichment	APC	1.34
239	Gm1-gangliosidosis, type iii	Enrichment	GLB1	1.34
240	Woolly hair, autosomal recessive 3	Enrichment	RB1	1.34
241	Miller-dieker lissencephaly syndrome	Enrichment	PAFAH1B1	1.34
242	Bardet-biedl syndrome 19	Enrichment	IFT27	1.34
243	Chromosome 17p13.3, centromeric, duplication syndrome	Enrichment	PAFAH1B1	1.34
244	Short-rib thoracic dysplasia 11 with or without polydactyly	Enrichment	DYNC2I2	1.34
245	Anus, imperforate	Enrichment	CTNNB1	1.34
246	Exudative vitreoretinopathy 7	Enrichment	CTNNB1	1.34
247	Orofaciodigital syndrome xvii	Enrichment	INTU	1.34
248	Short-rib thoracic dysplasia 20 with polydactyly	Enrichment	INTU	1.34
249	Hypotrichosis 8	Enrichment	RB1	1.34
250	Tethered spinal cord syndrome	Enrichment	CREBBP	1.34
251	Caroli disease	Enrichment	IFT56	1.34
252	Cerebellar disease	Enrichment	AFG3L2	1.34
253	Gm1 gangliosidosis	Enrichment	GLB1	1.34
254	Retinitis pigmentosa 80	Enrichment	IFT140	1.34
255	Squamous cell carcinoma	Enrichment	RB1	1.34
256	Cellular ependymoma	Enrichment	MSH2	1.34
257	Tanycytic ependymoma	Enrichment	MSH2	1.34
258	Papillary ependymoma	Enrichment	MSH2	1.34
259	Intraocular pressure quantitative trait locus	Enrichment	CREBBP	1.34
260	Bone osteosarcoma	Enrichment	RB1	1.34
261	Renal-hepatic-pancreatic dysplasia	Enrichment	NEK8	1.34
262	Cog7-congenital disorder of glycosylation	Enrichment	CEP290	1.34
263	Occipital encephalocele	Enrichment	CEP290	1.34
264	Colon adenocarcinoma	Enrichment	APC	1.34
265	Homocystinuria	Enrichment	CBS	1.34
266	Clear cell ependymoma	Enrichment	MSH2	1.34
267	Apc-associated polyposis conditions	Enrichment	APC	1.34
268	Late-onset nephronophthisis	Enrichment	XPNPEP3	1.34
269	Cone dystrophy	Enrichment	BBS5, RPGR	1.27
270	Myeloma, multiple	Enrichment	CREBBP, ERF, YAP1	1.24
271	Branchiooculofacial syndrome	Enrichment	TFAP2A	1.21
272	Krabbe disease	Enrichment	SPATA7	1.21
273	Small cell cancer of the lung	Enrichment	RB1	1.21
274	Robinow syndrome, autosomal dominant 1	Enrichment	DVL3	1.21
275	Neuropathy, hereditary sensory and autonomic, type iia	Enrichment	WNK1	1.21
276	Sacral defect with anterior meningocele	Enrichment	FUZ	1.21
277	Mismatch repair cancer syndrome 1	Enrichment	MSH2	1.21
278	Astigmatism	Enrichment	MCM7	1.21
279	Aland island eye disease	Enrichment	WHRN	1.21
280	Meckel syndrome, type 4	Enrichment	CEP290	1.21
281	Orofaciodigital syndrome iii	Enrichment	IFT140	1.21
282	Pilomatrixoma	Enrichment	CTNNB1	1.21
283	Pituitary adenoma 5, multiple types	Enrichment	CDH23	1.21
284	Bardet-biedl syndrome 14	Enrichment	CEP290	1.21
285	Short-rib thoracic dysplasia 10 with or without polydactyly	Enrichment	IFT172	1.21
286	Alazami syndrome	Enrichment	CTNNB1	1.21
287	Congenital generalized lipodystrophy	Enrichment	AGPAT2	1.21
288	Retinitis pigmentosa 71	Enrichment	IFT172	1.21
289	Bardet-biedl syndrome 20	Enrichment	IFT172	1.21
290	Hereditary sensory and autonomic neuropathy type 2	Enrichment	WNK1	1.21
291	Enophthalmos	Enrichment	MCM7	1.21
292	Malignant epithelioid hemangioendothelioma	Enrichment	YAP1	1.21
293	Prolactinoma	Enrichment	CDH23	1.21
294	Autosomal dominant robinow syndrome	Enrichment	DVL3	1.21
295	3-methylglutaconic aciduria, type viii	Enrichment	HTRA2	1.21
296	Benign ependymoma	Enrichment	MSH2	1.21
297	Ovarian cancer	Enrichment	APC, CTNNB1, MSH2, RB1	1.13
298	Bladder cancer	Enrichment	CTNNB1, RB1	1.13
299	Deafness, autosomal recessive	Enrichment	CDH23, USH1C, WHRN	1.12
300	Exudative vitreoretinopathy 1	Enrichment	CTNNB1	1.12
301	Hemolytic uremic syndrome, atypical 1	Enrichment	DGKE	1.12
302	Premature ovarian failure 1	Enrichment	MCM9	1.12
303	Pseudovaginal perineoscrotal hypospadias	Enrichment	BBIP1	1.12
304	Robinow syndrome, autosomal recessive 1	Enrichment	DVL3	1.12
305	Fabry disease	Enrichment	GLA	1.12
306	Leber congenital amaurosis 10	Enrichment	CEP290	1.12
307	Familial adenomatous polyposis 1	Enrichment	APC	1.12
308	Charcot-marie-tooth disease, axonal, type 2e	Enrichment	NEFL	1.12
309	Chromosome 15q11.2 deletion syndrome	Enrichment	PAFAH1B1	1.12
310	Robinow syndrome, autosomal dominant 2	Enrichment	DVL3	1.12
311	Amblyopia	Enrichment	TFAP2A	1.12
312	Glioblastoma	Enrichment	MSH2	1.12
313	Night blindness	Enrichment	CEP290	1.12
314	Spinal muscular atrophy	Enrichment	DYNC1H1	1.12
315	Histiocytoid hemangioma	Enrichment	VIM	1.12
316	Joubert syndrome with ocular defect	Enrichment	MKS1	1.12
317	Joubert syndrome with jeune asphyxiating thoracic dystrophy	Enrichment	IFT140	1.12
318	Farsightedness	Enrichment	MCM7	1.12
319	Autosomal recessive nonsyndromic deafness	Enrichment	CDH23, USH1C, WHRN	1.11
320	Stargardt disease 1	Enrichment	LCA5, SPATA7	1.10
321	Isolated joubert syndrome	Enrichment	IFT74, MKS1	1.10
322	Visceral heterotaxy 5	Enrichment	ANKS3, CCDC40	1.08
323	Congenital nervous system abnormality	Enrichment	CEP290, CREBBP, CTNNB1, DYNC1H1	1.07
324	Nervous system disease	Enrichment	CEP290, CREBBP, CTNNB1, DYNC1H1	1.07
325	Peripheral nervous system disease	Enrichment	DYNC1H1, NEFL	1.05
326	Neuropathy	Enrichment	DYNC1H1, NEFL	1.05
327	Spondyloepiphyseal dysplasia with congenital joint dislocations	Enrichment	GLB1	1.04
328	Craniofacial microsomia 1	Enrichment	ZYG11B	1.04
329	Branchiootorenal syndrome 1	Enrichment	TFAP2A	1.04
330	Weyers acrofacial dysostosis	Enrichment	CTNNB1	1.04
331	Rubinstein-taybi syndrome 1	Enrichment	CREBBP	1.04
332	Ciliary dyskinesia, primary, 1	Enrichment	CCDC40	1.04
333	Usher syndrome, type id	Enrichment	CDH23	1.04
334	Deafness, autosomal recessive 12	Enrichment	CDH23	1.04
335	Renal dysplasia, cystic	Enrichment	CEP290	1.04
336	Chromosome 16p13.3 deletion syndrome, proximal	Enrichment	CREBBP	1.04
337	Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy	Enrichment	CALM1	1.04
338	Pontocerebellar hypoplasia, type 1e	Enrichment	EXOSC9	1.04
339	Autosomal recessive robinow syndrome	Enrichment	DVL3	1.04
340	Kartagener syndrome	Enrichment	CCDC40	1.04
341	Intestinal pseudo-obstruction	Enrichment	TFAP2B	1.04
342	Adrenocortical carcinoma	Enrichment	CTNNB1	1.04
343	Hypertrichosis	Enrichment	CREBBP	1.04
344	Syndromic rod-cone dystrophy	Enrichment	CDH23	1.04
345	Cone-rod dystrophy 2	Enrichment	CEP290, IFT81, RPGR	1.04
346	Genetic steroid-resistant nephrotic syndrome	Enrichment	ARHGDIA, NUP133	1.01
347	Meniere disease	Enrichment	CDH23	0.98
348	Treacher collins syndrome 1	Enrichment	EFTUD2	0.98
349	Arima syndrome	Enrichment	CEP290	0.98
350	Usher syndrome, type iia	Enrichment	CDH23	0.98
351	Progressive familial intrahepatic cholestasis	Enrichment	GLB1	0.98
352	Branchiootorenal syndrome	Enrichment	TFAP2A	0.98
353	Gallbladder cancer	Enrichment	CTNNB1	0.98
354	Common variable immunodeficiency	Enrichment	NFKB1	0.98
355	Primary ciliary dyskinesia	Enrichment	CCDC40, NME8, RPGR	0.94
356	Glioma susceptibility 1	Enrichment	H3-3A	0.93
357	Leber congenital amaurosis 1	Enrichment	LCA5	0.93
358	Spermatogenic failure 5	Enrichment	IFT74	0.93
359	Immunodeficiency 47	Enrichment	CEP290	0.93
360	Exudative vitreoretinopathy	Enrichment	CTNNB1	0.93
361	Catecholaminergic polymorphic ventricular tachycardia 1	Enrichment	CALM1	0.93
362	Catecholaminergic polymorphic ventricular tachycardia	Enrichment	CALM1	0.93
363	Choreatic disease	Enrichment	AFG3L2	0.93
364	Rare genetic deafness	Enrichment	CDH23, USH1C, WHRN	0.90
365	Microcephaly	Enrichment	AAR2, CTNNB1, DYNC1H1, MCM7	0.90
366	Tracheoesophageal fistula with or without esophageal atresia	Enrichment	EFTUD2	0.88
367	Polydactyly	Enrichment	MKS1	0.88
368	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	Enrichment	RAC1	0.88
369	Adult hepatocellular carcinoma	Enrichment	CTNNB1	0.88
370	Cystic kidney disease	Enrichment	IFT140	0.88
371	Primary hyperaldosteronism	Enrichment	CDH23	0.88
372	Ventricular septal defect	Enrichment	AAR2	0.88
373	Colonic benign neoplasm	Enrichment	APC	0.88
374	Charcot-marie-tooth disease	Enrichment	DYNC1H1, NEFL	0.87
375	Gastric cancer	Enrichment	APC, MSH2	0.84
376	Nephrotic syndrome	Enrichment	DGKE, GLA	0.84
377	Cat eye syndrome	Enrichment	TFAP2A	0.84
378	Cataract 30, multiple types	Enrichment	VIM	0.84
379	Lynch syndrome 1	Enrichment	MSH2	0.84
380	Meier-gorlin syndrome 1	Enrichment	MCM7	0.84
381	Galloway-mowat syndrome	Enrichment	NUP133	0.84
382	Polymicrogyria	Enrichment	DYNC1H1	0.84
383	Achromatopsia	Enrichment	RPGR	0.84
384	Familial colorectal cancer	Enrichment	MSH2	0.84
385	Isolated tracheo-esophageal fistula	Enrichment	EFTUD2	0.84
386	Optic atrophy plus syndrome	Enrichment	AFG3L2, BBS7	0.82
387	Hereditary breast carcinoma	Enrichment	APC, MSH2	0.82
388	Colorectal cancer	Enrichment	APC, CTNNB1, MSH2	0.81
389	Glycogen storage disease	Enrichment	CCDC40	0.80
390	Uterine corpus cancer	Enrichment	MSH2	0.80
391	Specific learning disability	Enrichment	BBIP1	0.80
392	Rare autosomal recessive non-syndromic sensorineural deafness type dfnb	Enrichment	CDH23, USH1C, WHRN	0.79
393	Epicanthus	Enrichment	TFAP2A	0.76
394	Early-onset parkinson's disease	Enrichment	HTRA2	0.76
395	Lip and oral cavity carcinoma	Enrichment	RB1	0.76
396	Body mass index quantitative trait locus 11	Enrichment	BBIP1, NUDC	0.74
397	Autosomal dominant non-syndromic intellectual disability	Enrichment	CAMK2A, DYNC1H1	0.74
398	Microphthalmia/coloboma 12	Enrichment	YAP1	0.73
399	Neural tube defects	Enrichment	FUZ	0.73
400	Breast-ovarian cancer, familial 1	Enrichment	MSH2	0.73
401	Chronic kidney disease	Enrichment	MKS1	0.73
402	Hypogonadotropic hypogonadism 7 with or without anosmia	Enrichment	BBIP1	0.70
403	Lung cancer susceptibility 3	Enrichment	RB1	0.70
404	Heart disease	Enrichment	CREBBP	0.70
405	Coloboma of macula	Enrichment	YAP1	0.68
406	Corpus callosum, agenesis of	Enrichment	CREBBP	0.68
407	Hydrocephalus	Enrichment	IFT56	0.68
408	Atypical hemolytic-uremic syndrome	Enrichment	DGKE	0.68
409	Lynch syndrome	Enrichment	MSH2	0.68
410	Kidney disease	Enrichment	CEP290	0.68
411	Isolated corpus callosum agenesis	Enrichment	CREBBP	0.68
412	Rare genetic intellectual disability	Enrichment	CREBBP	0.68
413	Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome	Enrichment	CREBBP	0.68
414	Rhabdomyosarcoma	Enrichment	MSH2	0.65
415	Gliosarcoma	Enrichment	MSH2	0.65
416	Polycystic liver disease	Enrichment	CTNNB1	0.63
417	Giant cell glioblastoma	Enrichment	MSH2	0.63
418	Autosomal dominant polycystic liver disease	Enrichment	CTNNB1	0.63
419	Charcot-marie-tooth disease type 4	Enrichment	DYNC1H1	0.61
420	Pontocerebellar hypoplasia	Enrichment	EXOSC9	0.61
421	Patent foramen ovale	Enrichment	AAR2	0.61
422	Neuropathy, hereditary motor and sensory, okinawa type	Enrichment	NEFL	0.59
423	Diffuse large b-cell lymphoma	Enrichment	CREBBP	0.59
424	Esophageal atresia/tracheoesophageal fistula	Enrichment	EFTUD2	0.59
425	Azoospermia	Enrichment	MCM8	0.57
426	Craniosynostosis	Enrichment	TFAP2B	0.57
427	Endometrial cancer	Enrichment	MSH2	0.55
428	Visceral heterotaxy	Enrichment	CCDC40	0.53
429	Congenital stationary night blindness	Enrichment	RPGR	0.52
430	Ear malformation	Enrichment	CDH23	0.50
431	Scoliosis	Enrichment	CREBBP	0.50
432	Breast cancer	Enrichment	APC, MSH2	0.48
433	Hydrops fetalis, nonimmune	Enrichment	CTSA	0.47
434	Auditory neuropathy	Enrichment	NEFL	0.47
435	Inherited cancer-predisposing syndrome	Enrichment	APC, MSH2, RB1	0.47
436	Severe covid-19	Enrichment	DGKE	0.44
437	Long qt syndrome 1	Enrichment	CALM1	0.42
438	Long qt syndrome	Enrichment	CALM1	0.41
439	Non-immune hydrops fetalis	Enrichment	CTSA	0.41
440	Primary autosomal recessive microcephaly	Enrichment	MCM7	0.40
441	Connective tissue disease	Enrichment	CBS	0.40
442	Familial hypertrophic cardiomyopathy	Enrichment	GLA	0.39
443	Dystonia	Enrichment	AFG3L2	0.37
444	Eye disease	Enrichment	BBS9	0.37
445	Non-syndromic x-linked intellectual disability	Enrichment	GDI1	0.36
446	Non-syndromic genetic deafness	Enrichment	CDH23	0.36
447	Fetal akinesia deformation sequence 1	Enrichment	NUP88	0.35
448	Myopathy	Enrichment	DYNC1H1	0.33
449	Type 2 diabetes mellitus	Enrichment	TBC1D4	0.31
450	Nonsyndromic hearing loss	Enrichment	CDH23	0.31
451	Hypertrophic cardiomyopathy	Enrichment	GLA	0.31
452	Familial thoracic aortic aneurysm and aortic dissection	Enrichment	CBS	0.30
453	Hypertelorism	Enrichment	TFAP2A	0.25
454	Rare autosomal dominant non-syndromic sensorineural deafness type dfna	Enrichment	MCM2	0.25
455	Complex neurodevelopmental disorder	Enrichment	CNOT1, PSMD12	0.24
456	Hereditary breast ovarian cancer syndrome	Enrichment	MSH2	0.24
457	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	Enrichment	VAPB	0.22
458	Autosomal recessive non-syndromic intellectual disability	Enrichment	AIMP1	0.22
459	Leigh syndrome, nuclear	Enrichment	ECHS1	0.18
460	Autism	Enrichment	CREBBP	0.17
461	Leigh disease	Enrichment	ECHS1	0.16
462	Autism spectrum disorder	Enrichment	DYNC1H1	0.09

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

Ciliary landscape

Pathway Network for Ciliary landscape

Member Pathways for Ciliary landscape

Pathways in the Ciliary landscape SuperPath

Associated Genes for Ciliary landscape

Associated Disorders for Ciliary landscape

Disorders associated with Ciliary landscape SuperPath

STRING Interaction Network for Ciliary landscape

Sources for Ciliary landscape