Organelle biogenesis and maintenance

No Pathway Network information available for Organelle biogenesis and maintenance

Pathways in the Organelle biogenesis and maintenance SuperPath

#	Name	Source	Genes
1	Organelle biogenesis and maintenance	Reactome	ACSS2 ACTR1A AHI1 AKAP9 ALAS1 ALMS1 APOO APOOL ARF4 ARL13B ARL3 ARL6 ASAP1 ATAT1 ATF2 ATP5F1A ATP5F1B ATP5F1C ATP5F1D ATP5F1E ATP5MC1 ATP5MC2 ATP5MC3 ATP5ME ATP5MF ATP5MG ATP5MJ ATP5MK ATP5PB ATP5PD ATP5PF ATP5PO B9D1 B9D2 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 C2CD3 CALM1 CALM2 CALM3 CAMK4 CARM1 CC2D2A CCP110 CCT2 CCT3 CCT4 CCT5 CCT8 CDK1 CDK5RAP2 CEP131 CEP135 CEP152 CEP162 CEP164 CEP192 CEP250 CEP290 CEP41 CEP43 CEP57 CEP63 CEP70 CEP72 CEP76 CEP78 CEP83 CEP89 CEP97 CETN2 CHCHD3 CHCHD6 CHD9 CKAP5 CLASP1 CLUAP1 CNGA2 CNGA4 CNGB1 CNTRL CPAP CREB1 CREBBP CRTC1 CRTC2 CRTC3 CSNK1D CSNK1E CYS1 DCTN1 DCTN2 DCTN3 DMAC2L DNAJC11 DYNC1H1 DYNC1I2 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYNLL1 DYNLL2 DYNLRB1 DYNLRB2 DYNLT2 DYNLT2B DYNLT5 ESRRA EXOC1 EXOC2 EXOC3 EXOC4 EXOC5 EXOC6 EXOC7 EXOC8 FBF1 GABPA GABPB1 GBF1 GLUD1 GLUD2 HAUS1 HAUS2 HAUS3 HAUS4 HAUS5 HAUS6 HAUS7 HAUS8 HCFC1 HDAC3 HDAC6 HELZ2 HSP90AA1 HSPA9 IDH2 IFT122 IFT140 IFT172 IFT20 IFT22 IFT25 IFT27 IFT43 IFT46 IFT52 IFT56 IFT57 IFT70A IFT70B IFT74 IFT80 IFT81 IFT88 IMMT INPP5E IQCB1 KIF17 KIF24 KIF3A KIF3B KIF3C KIFAP3 LZTFL1 MAPK11 MAPK12 MAPK14 MAPRE1 MARK4 MCHR1 MED1 MEF2C MEF2D MICOS10 MICOS13 MKKS MKS1 MT-ATP6 MT-ATP8 MTERF1 MTX1 MTX2 NCOA1 NCOA2 NCOA6 NCOR1 NDE1 NEDD1 NEK2 NINL NPHP1 NPHP3 NPHP4 NR1D1 NRF1 ODF2 OFD1 PAFAH1B1 PCM1 PCNT PDE6D PERM1 PKD1 PKD2 PLK1 PLK4 POLG2 POLRMT PPARA PPARGC1A PPARGC1B PPP2R1A PPRC1 PRKAA2 PRKAB1 PRKAB2 PRKACA PRKAG1 PRKAG2 PRKAG3 PRKAR2B RAB11A RAB11FIP3 RAB3IP RAB8A RHO RP2 RPGRIP1L RXRA SAMM50 SCLT1 SDCCAG8 SEPTIN2 SFI1 SIRT3 SIRT4 SIRT5 SMARCD3 SMO SOD2 SSBP1 SSNA1 SSTR3 TBL1X TBL1XR1 TCP1 TCTN1 TCTN2 TCTN3 TFAM TFB1M TFB2M TGS1 TMEM11 TMEM216 TMEM67 TNPO1 TRAF3IP1 TRIP11 TTBK2 TTC21B TTC8 TUBA1A TUBA1B TUBA1C TUBA3C TUBA3D TUBA3E TUBA4A TUBA8 TUBAL3 TUBB TUBB1 TUBB2A TUBB2B TUBB3 TUBB4A TUBB4B TUBB6 TUBB8 TUBB8B TUBG1 TWNK UNC119B WDR19 WDR35 YWHAE YWHAG (see all 297) (see less)
2	Cilium Assembly	Reactome	ACTR1A AHI1 AKAP9 ALMS1 ARF4 ARL13B ARL3 ARL6 ASAP1 ATAT1 B9D1 B9D2 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 C2CD3 CC2D2A CCP110 CCT2 CCT3 CCT4 CCT5 CCT8 CDK1 CDK5RAP2 CEP131 CEP135 CEP152 CEP162 CEP164 CEP192 CEP250 CEP290 CEP41 CEP43 CEP57 CEP63 CEP70 CEP72 CEP76 CEP78 CEP83 CEP89 CEP97 CETN2 CKAP5 CLASP1 CLUAP1 CNGA2 CNGA4 CNGB1 CNTRL CPAP CSNK1D CSNK1E CYS1 DCTN1 DCTN2 DCTN3 DYNC1H1 DYNC1I2 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYNLL1 DYNLL2 DYNLRB1 DYNLRB2 DYNLT2 DYNLT2B DYNLT5 EXOC1 EXOC2 EXOC3 EXOC4 EXOC5 EXOC6 EXOC7 EXOC8 FBF1 GBF1 HAUS1 HAUS2 HAUS3 HAUS4 HAUS5 HAUS6 HAUS7 HAUS8 HDAC6 HSP90AA1 IFT122 IFT140 IFT172 IFT20 IFT22 IFT25 IFT27 IFT43 IFT46 IFT52 IFT56 IFT57 IFT70A IFT70B IFT74 IFT80 IFT81 IFT88 INPP5E IQCB1 KIF17 KIF24 KIF3A KIF3B KIF3C KIFAP3 LZTFL1 MAPRE1 MARK4 MCHR1 MKKS MKS1 NDE1 NEDD1 NEK2 NINL NPHP1 NPHP3 NPHP4 ODF2 OFD1 PAFAH1B1 PCM1 PCNT PDE6D PKD1 PKD2 PLK1 PLK4 PPP2R1A PRKACA PRKAR2B RAB11A RAB11FIP3 RAB3IP RAB8A RHO RP2 RPGRIP1L SCLT1 SDCCAG8 SEPTIN2 SFI1 SMO SSNA1 SSTR3 TCP1 TCTN1 TCTN2 TCTN3 TMEM216 TMEM67 TNPO1 TRAF3IP1 TRIP11 TTBK2 TTC21B TTC8 TUBA1A TUBA1B TUBA1C TUBA3C TUBA3D TUBA3E TUBA4A TUBA8 TUBAL3 TUBB TUBB1 TUBB2A TUBB2B TUBB3 TUBB4A TUBB4B TUBB6 TUBB8 TUBB8B TUBG1 UNC119B WDR19 WDR35 YWHAE YWHAG (see all 201) (see less)

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

#	Symbol	Description	Category	# Related Pathways
1	HDAC6	Histone Deacetylase 6	Protein Coding	2
2	ACTR1A	Actin Related Protein 1A	Protein Coding	2
3	AKAP9	A-Kinase Anchoring Protein 9	Protein Coding	2
4	TUBA1B	Tubulin Alpha 1b	Protein Coding	2
5	TUBB3	Tubulin Beta 3 Class III	Protein Coding	2
6	TUBB4A	Tubulin Beta 4A Class IVa	Protein Coding	2
7	TUBB4B	Tubulin Beta 4B Class IVb	Protein Coding	2
8	DCTN2	Dynactin Subunit 2	Protein Coding	2
9	CCT4	Chaperonin Containing TCP1 Subunit 4	Protein Coding	2
10	CCT2	Chaperonin Containing TCP1 Subunit 2	Protein Coding	2
11	EXOC5	Exocyst Complex Component 5	Protein Coding	2
12	CETN2	Centrin 2	Protein Coding	2
13	CCT8	Chaperonin Containing TCP1 Subunit 8	Protein Coding	2
14	PLK4	Polo Like Kinase 4	Protein Coding	2
15	SDCCAG8	SHH Signaling And Ciliogenesis Regulator SDCCAG8	Protein Coding	2
16	IFT27	Intraflagellar Transport 27	Protein Coding	2
17	CNTRL	Centriolin	Protein Coding	2
18	CEP43	Centrosomal Protein 43	Protein Coding	2
19	KIF3A	Kinesin Family Member 3A	Protein Coding	2
20	CEP250	Centrosomal Protein 250	Protein Coding	2
21	DCTN3	Dynactin Subunit 3	Protein Coding	2
22	TUBA3E	Tubulin Alpha 3e	Protein Coding	2
23	IFT43	Intraflagellar Transport 43	Protein Coding	2
24	EXOC3	Exocyst Complex Component 3	Protein Coding	2
25	TUBA3D	Tubulin Alpha 3d	Protein Coding	2
26	HAUS1	HAUS Augmin Like Complex Subunit 1	Protein Coding	2
27	RAB3IP	RAB3A Interacting Protein	Protein Coding	2
28	NEDD1	NEDD1 Gamma-Tubulin Ring Complex Targeting Factor	Protein Coding	2
29	TTC8	Tetratricopeptide Repeat Domain 8	Protein Coding	2
30	CNGB1	Cyclic Nucleotide Gated Channel Subunit Beta 1	Protein Coding	2
31	CNGA2	Cyclic Nucleotide Gated Channel Subunit Alpha 2	Protein Coding	2
32	CNGA4	Cyclic Nucleotide Gated Channel Subunit Alpha 4	Protein Coding	2
33	BBS5	Bardet-Biedl Syndrome 5	Protein Coding	2
34	SCLT1	Sodium Channel And Clathrin Linker 1	Protein Coding	2
35	DYNLL2	Dynein Light Chain LC8-Type 2	Protein Coding	2
36	CSNK1D	Casein Kinase 1 Delta	Protein Coding	2
37	CSNK1E	Casein Kinase 1 Epsilon	Protein Coding	2
38	TTBK2	Tau Tubulin Kinase 2	Protein Coding	2
39	EXOC8	Exocyst Complex Component 8	Protein Coding	2
40	IFT70B	Intraflagellar Transport 70B	Protein Coding	2
41	DCTN1	Dynactin Subunit 1	Protein Coding	2
42	BBS12	Bardet-Biedl Syndrome 12	Protein Coding	2
43	DYNC1H1	Dynein Cytoplasmic 1 Heavy Chain 1	Protein Coding	2
44	DYNC1I2	Dynein Cytoplasmic 1 Intermediate Chain 2	Protein Coding	2
45	CYS1	Cystin 1	Protein Coding	2
46	DYNLT5	Dynein Light Chain Tctex-Type Family Member 5	Protein Coding	2
47	ARL13B	ARF Like GTPase 13B	Protein Coding	2
48	TUBB	Tubulin Beta Class I	Protein Coding	2
49	CEP162	Centrosomal Protein 162	Protein Coding	2
50	CEP164	Centrosomal Protein 164	Protein Coding	2
51	MAPRE1	Microtubule Associated Protein RP/EB Family Member 1	Protein Coding	2
52	KIFAP3	Kinesin Associated Protein 3	Protein Coding	2
53	CCT5	Chaperonin Containing TCP1 Subunit 5	Protein Coding	2
54	NINL	Ninein Like	Protein Coding	2
55	CEP131	Centrosomal Protein 131	Protein Coding	2
56	CEP152	Centrosomal Protein 152	Protein Coding	2
57	CLUAP1	Clusterin Associated Protein 1	Protein Coding	2
58	EXOC7	Exocyst Complex Component 7	Protein Coding	2
59	RPGRIP1L	RPGRIP1 Like	Protein Coding	2
60	CLASP1	Cytoplasmic Linker Associated Protein 1	Protein Coding	2
61	HAUS5	HAUS Augmin Like Complex Subunit 5	Protein Coding	2
62	DYNLT2B	Dynein Light Chain Tctex-Type 2B	Protein Coding	2
63	C2CD3	C2 Domain Containing 3 Centriole Elongation Regulator	Protein Coding	2
64	TUBB8B	Tubulin Beta 8B	Protein Coding	2
65	TCTN3	Tectonic Family Member 3	Protein Coding	2
66	TRAF3IP1	TRAF3 Interacting Protein 1	Protein Coding	2
67	IFT172	Intraflagellar Transport 172	Protein Coding	2
68	NPHP4	Nephrocystin 4	Protein Coding	2
69	NPHP3	Nephrocystin 3	Protein Coding	2
70	B9D1	B9 Domain Containing 1	Protein Coding	2
71	BBS9	Bardet-Biedl Syndrome 9	Protein Coding	2
72	MCHR1	Melanin Concentrating Hormone Receptor 1	Protein Coding	2
73	IFT81	Intraflagellar Transport 81	Protein Coding	2
74	HSP90AA1	Heat Shock Protein 90 Alpha Family Class A Member 1	Protein Coding	2
75	KIF24	Kinesin Family Member 24	Protein Coding	2
76	TUBB8	Tubulin Beta 8 Class VIII	Protein Coding	2
77	TUBB2B	Tubulin Beta 2B Class IIb	Protein Coding	2
78	ARF4	ARF GTPase 4	Protein Coding	2
79	KIF3C	Kinesin Family Member 3C	Protein Coding	2
80	TNPO1	Transportin 1	Protein Coding	2
81	ARL3	ARF Like GTPase 3	Protein Coding	2
82	RAB8A	RAB8A, Member RAS Oncogene Family	Protein Coding	2
83	SEPTIN2	Septin 2	Protein Coding	2
84	NEK2	NIMA Related Kinase 2	Protein Coding	2
85	NPHP1	Nephrocystin 1	Protein Coding	2
86	ODF2	Outer Dense Fiber Of Sperm Tails 2	Protein Coding	2
87	PAFAH1B1	Platelet Activating Factor Acetylhydrolase 1b Regulatory Subunit 1	Protein Coding	2
88	ASAP1	ArfGAP With SH3 Domain, Ankyrin Repeat And PH Domain 1	Protein Coding	2
89	PCM1	Pericentriolar Material 1	Protein Coding	2
90	IFT52	Intraflagellar Transport 52	Protein Coding	2
91	CEP83	Centrosomal Protein 83	Protein Coding	2
92	PCNT	Pericentrin	Protein Coding	2
93	TMEM216	Transmembrane Protein 216	Protein Coding	2
94	PDE6D	Phosphodiesterase 6D	Protein Coding	2
95	DYNC2LI1	Dynein Cytoplasmic 2 Light Intermediate Chain 1	Protein Coding	2
96	IFT25	Intraflagellar Transport 25	Protein Coding	2
97	TUBA8	Tubulin Alpha 8	Protein Coding	2
98	PKD1	Polycystin 1, Transient Receptor Potential Channel Interacting	Protein Coding	2
99	PKD2	Polycystin 2, Transient Receptor Potential Cation Channel	Protein Coding	2
100	PLK1	Polo Like Kinase 1	Protein Coding	2
101	EXOC6	Exocyst Complex Component 6	Protein Coding	2
102	LZTFL1	Leucine Zipper Transcription Factor Like 1	Protein Coding	2
103	HAUS6	HAUS Augmin Like Complex Subunit 6	Protein Coding	2
104	AHI1	Abelson Helper Integration Site 1	Protein Coding	2
105	NDE1	NudE Neurodevelopment Protein 1	Protein Coding	2
106	MKS1	MKS Transition Zone Complex Subunit 1	Protein Coding	2
107	HAUS4	HAUS Augmin Like Complex Subunit 4	Protein Coding	2
108	IFT57	Intraflagellar Transport 57	Protein Coding	2
109	DYNC2I1	Dynein 2 Intermediate Chain 1	Protein Coding	2
110	CEP192	Centrosomal Protein 192	Protein Coding	2
111	HAUS2	HAUS Augmin Like Complex Subunit 2	Protein Coding	2
112	PPP2R1A	Protein Phosphatase 2 Scaffold Subunit Aalpha	Protein Coding	2
113	BBS7	Bardet-Biedl Syndrome 7	Protein Coding	2
114	HAUS7	HAUS Augmin Like Complex Subunit 7	Protein Coding	2
115	PRKACA	Protein Kinase CAMP-Activated Catalytic Subunit Alpha	Protein Coding	2
116	CEP72	Centrosomal Protein 72	Protein Coding	2
117	CDK5RAP2	CDK5 Regulatory Subunit Associated Protein 2	Protein Coding	2
118	EXOC1	Exocyst Complex Component 1	Protein Coding	2
119	IFT122	Intraflagellar Transport 122	Protein Coding	2
120	PRKAR2B	Protein Kinase CAMP-Dependent Type II Regulatory Subunit Beta	Protein Coding	2
121	EXOC2	Exocyst Complex Component 2	Protein Coding	2
122	CPAP	Centrosome Assembly And Centriole Elongation Protein	Protein Coding	2
123	INPP5E	Inositol Polyphosphate-5-Phosphatase E	Protein Coding	2
124	IFT46	Intraflagellar Transport 46	Protein Coding	2
125	WDR35	WD Repeat Domain 35	Protein Coding	2
126	CC2D2A	Coiled-Coil And C2 Domain Containing 2A	Protein Coding	2
127	IFT80	Intraflagellar Transport 80	Protein Coding	2
128	KIF17	Kinesin Family Member 17	Protein Coding	2
129	WDR19	WD Repeat Domain 19	Protein Coding	2
130	MARK4	Microtubule Affinity Regulating Kinase 4	Protein Coding	2
131	BBS1	Bardet-Biedl Syndrome 1	Protein Coding	2
132	BBS2	Bardet-Biedl Syndrome 2	Protein Coding	2
133	BBS4	Bardet-Biedl Syndrome 4	Protein Coding	2
134	RHO	Rhodopsin	Protein Coding	2
135	EXOC4	Exocyst Complex Component 4	Protein Coding	2
136	RP2	RP2 Activator Of ARL3 GTPase	Protein Coding	2
137	IFT22	Intraflagellar Transport 22	Protein Coding	2
138	SMO	Smoothened, Frizzled Class Receptor	Protein Coding	2
139	SSTR3	Somatostatin Receptor 3	Protein Coding	2
140	TCP1	T-Complex 1	Protein Coding	2
141	DYNLT2	Dynein Light Chain Tctex-Type 2	Protein Coding	2
142	CCT3	Chaperonin Containing TCP1 Subunit 3	Protein Coding	2
143	TUBA4A	Tubulin Alpha 4a	Protein Coding	2
144	TUBA3C	Tubulin Alpha 3c	Protein Coding	2
145	TUBB2A	Tubulin Beta 2A Class IIa	Protein Coding	2
146	TUBG1	Tubulin Gamma 1	Protein Coding	2
147	YWHAE	Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Epsilon	Protein Coding	2
148	YWHAG	Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Gamma	Protein Coding	2
149	ALMS1	ALMS1 Centrosome And Basal Body Associated Protein	Protein Coding	2
150	TUBA1A	Tubulin Alpha 1a	Protein Coding	2
151	HAUS3	HAUS Augmin Like Complex Subunit 3	Protein Coding	2
152	CEP97	Centrosomal Protein 97	Protein Coding	2
153	TCTN1	Tectonic Family Member 1	Protein Coding	2
154	DYNC2H1	Dynein Cytoplasmic 2 Heavy Chain 1	Protein Coding	2
155	BBS10	Bardet-Biedl Syndrome 10	Protein Coding	2
156	TTC21B	Tetratricopeptide Repeat Domain 21B	Protein Coding	2
157	TUBAL3	Tubulin Alpha Like 3	Protein Coding	2
158	TCTN2	Tectonic Family Member 2	Protein Coding	2
159	CEP76	Centrosomal Protein 76	Protein Coding	2
160	ATAT1	Alpha Tubulin Acetyltransferase 1	Protein Coding	2
161	IFT56	Intraflagellar Transport 56	Protein Coding	2
162	IFT74	Intraflagellar Transport 74	Protein Coding	2
163	CEP290	Centrosomal Protein 290	Protein Coding	2
164	CEP63	Centrosomal Protein 63	Protein Coding	2
165	CEP70	Centrosomal Protein 70	Protein Coding	2
166	B9D2	B9 Domain Containing 2	Protein Coding	2
167	IFT88	Intraflagellar Transport 88	Protein Coding	2
168	TUBB1	Tubulin Beta 1 Class VI	Protein Coding	2
169	MKKS	MKKS Centrosomal Shuttling Protein	Protein Coding	2
170	DYNLRB2	Dynein Light Chain Roadblock-Type 2	Protein Coding	2
171	DYNLRB1	Dynein Light Chain Roadblock-Type 1	Protein Coding	2
172	ARL6	ARF Like GTPase 6	Protein Coding	2
173	CEP78	Centrosomal Protein 78	Protein Coding	2
174	TUBB6	Tubulin Beta 6 Class V	Protein Coding	2
175	UNC119B	Unc-119 Lipid Binding Chaperone B	Protein Coding	2
176	TUBA1C	Tubulin Alpha 1c	Protein Coding	2
177	OFD1	OFD1 Centriole And Centriolar Satellite Protein	Protein Coding	2
178	CEP89	Centrosomal Protein 89	Protein Coding	2
179	FBF1	Fas Binding Factor 1	Protein Coding	2
180	SSNA1	SS Nuclear Autoantigen 1	Protein Coding	2
181	DYNLL1	Dynein Light Chain LC8-Type 1	Protein Coding	2
182	GBF1	Golgi Brefeldin A Resistant Guanine Nucleotide Exchange Factor 1	Protein Coding	2
183	RAB11A	RAB11A, Member RAS Oncogene Family	Protein Coding	2
184	DYNC2I2	Dynein 2 Intermediate Chain 2	Protein Coding	2
185	IFT20	Intraflagellar Transport 20	Protein Coding	2
186	TMEM67	Transmembrane Protein 67	Protein Coding	2
187	IFT70A	Intraflagellar Transport 70A	Protein Coding	2
188	BBIP1	BBSome Interacting Protein 1	Protein Coding	2
189	TRIP11	Thyroid Hormone Receptor Interactor 11	Protein Coding	2
190	HAUS8	HAUS Augmin Like Complex Subunit 8	Protein Coding	2
191	KIF3B	Kinesin Family Member 3B	Protein Coding	2
192	CEP41	Centrosomal Protein 41	Protein Coding	2
193	IQCB1	IQ Motif Containing B1	Protein Coding	2
194	CEP135	Centrosomal Protein 135	Protein Coding	2
195	CEP57	Centrosomal Protein 57	Protein Coding	2
196	RAB11FIP3	RAB11 Family Interacting Protein 3	Protein Coding	2
197	CCP110	Centriolar Coiled-Coil Protein 110	Protein Coding	2
198	IFT140	Intraflagellar Transport 140	Protein Coding	2
199	CKAP5	Cytoskeleton Associated Protein 5	Protein Coding	2
200	SFI1	SFI1 Centrin Binding Protein	Protein Coding	2
201	CDK1	Cyclin Dependent Kinase 1	Protein Coding	2
202	ATP5PD	ATP Synthase Peripheral Stalk Subunit D	Protein Coding	1
203	CARM1	Coactivator Associated Arginine Methyltransferase 1	Protein Coding	1
204	NCOA2	Nuclear Receptor Coactivator 2	Protein Coding	1
205	ATP5MG	ATP Synthase Membrane Subunit G	Protein Coding	1
206	MTX2	Metaxin 2	Protein Coding	1
207	PPARGC1A	PPARG Coactivator 1 Alpha	Protein Coding	1
208	IMMT	Inner Membrane Mitochondrial Protein	Protein Coding	1
209	POLG2	DNA Polymerase Gamma 2, Accessory Subunit	Protein Coding	1
210	MICOS13	Mitochondrial Contact Site And Cristae Organizing System Subunit 13	Protein Coding	1
211	PPARGC1B	PPARG Coactivator 1 Beta	Protein Coding	1
212	CREB1	CAMP Responsive Element Binding Protein 1	Protein Coding	1
213	ATF2	Activating Transcription Factor 2	Protein Coding	1
214	CREBBP	CREB Binding Lysine Acetyltransferase	Protein Coding	1
215	APOOL	Apolipoprotein O Like	Protein Coding	1
216	MAPK14	Mitogen-Activated Protein Kinase 14	Protein Coding	1
217	CRTC2	CREB Regulated Transcription Coactivator 2	Protein Coding	1
218	ESRRA	Estrogen Related Receptor Alpha	Protein Coding	1
219	ALAS1	5''-Aminolevulinate Synthase 1	Protein Coding	1
220	NCOA6	Nuclear Receptor Coactivator 6	Protein Coding	1
221	PPRC1	PPARG Related Coactivator 1	Protein Coding	1
222	CRTC1	CREB Regulated Transcription Coactivator 1	Protein Coding	1
223	SIRT5	Sirtuin 5	Protein Coding	1
224	SIRT4	Sirtuin 4	Protein Coding	1
225	SIRT3	Sirtuin 3	Protein Coding	1
226	GABPA	GA Binding Protein Transcription Factor Subunit Alpha	Protein Coding	1
227	GABPB1	GA Binding Protein Transcription Factor Subunit Beta 1	Protein Coding	1
228	SAMM50	SAMM50 Sorting And Assembly Machinery Component	Protein Coding	1
229	DMAC2L	Distal Membrane Arm Assembly Component 2 Like	Protein Coding	1
230	GLUD1	Glutamate Dehydrogenase 1	Protein Coding	1
231	GLUD2	Glutamate Dehydrogenase 2	Protein Coding	1
232	HCFC1	Host Cell Factor C1	Protein Coding	1
233	HSPA9	Heat Shock Protein Family A (Hsp70) Member 9	Protein Coding	1
234	IDH2	Isocitrate Dehydrogenase (NADP(+)) 2	Protein Coding	1
235	MEF2C	Myocyte Enhancer Factor 2C	Protein Coding	1
236	MEF2D	Myocyte Enhancer Factor 2D	Protein Coding	1
237	MICOS10	Mitochondrial Contact Site And Cristae Organizing System Subunit 10	Protein Coding	1
238	MT-ATP6	Mitochondrially Encoded ATP Synthase Membrane Subunit 6	Protein Coding	1
239	MT-ATP8	Mitochondrially Encoded ATP Synthase Membrane Subunit 8	Protein Coding	1
240	MTX1	Metaxin 1	Protein Coding	1
241	NRF1	Nuclear Respiratory Factor 1	Protein Coding	1
242	ATP5F1A	ATP Synthase F1 Subunit Alpha	Protein Coding	1
243	ATP5F1B	ATP Synthase F1 Subunit Beta	Protein Coding	1
244	ATP5F1C	ATP Synthase F1 Subunit Gamma	Protein Coding	1
245	TFB1M	Transcription Factor B1, Mitochondrial	Protein Coding	1
246	ATP5F1D	ATP Synthase F1 Subunit Delta	Protein Coding	1
247	ATP5F1E	ATP Synthase F1 Subunit Epsilon	Protein Coding	1
248	PRKAG2	Protein Kinase AMP-Activated Non-Catalytic Subunit Gamma 2	Protein Coding	1
249	ATP5PB	ATP Synthase Peripheral Stalk-Membrane Subunit B	Protein Coding	1
250	ATP5MC1	ATP Synthase Membrane Subunit C Locus 1	Protein Coding	1
251	ATP5MC2	ATP Synthase Membrane Subunit C Locus 2	Protein Coding	1
252	ATP5MC3	ATP Synthase Membrane Subunit C Locus 3	Protein Coding	1
253	ATP5ME	ATP Synthase Membrane Subunit E	Protein Coding	1
254	ATP5PF	ATP Synthase Peripheral Stalk Subunit F6	Protein Coding	1
255	PRKAG3	Protein Kinase AMP-Activated Non-Catalytic Subunit Gamma 3	Protein Coding	1
256	ATP5PO	ATP Synthase Peripheral Stalk Subunit OSCP	Protein Coding	1
257	POLRMT	RNA Polymerase Mitochondrial	Protein Coding	1
258	PPARA	Peroxisome Proliferator Activated Receptor Alpha	Protein Coding	1
259	MED1	Mediator Complex Subunit 1	Protein Coding	1
260	CHCHD3	Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing 3	Protein Coding	1
261	PRKAA2	Protein Kinase AMP-Activated Catalytic Subunit Alpha 2	Protein Coding	1
262	PRKAB1	Protein Kinase AMP-Activated Non-Catalytic Subunit Beta 1	Protein Coding	1
263	PRKAB2	Protein Kinase AMP-Activated Non-Catalytic Subunit Beta 2	Protein Coding	1
264	PRKAG1	Protein Kinase AMP-Activated Non-Catalytic Subunit Gamma 1	Protein Coding	1
265	DNAJC11	DnaJ Heat Shock Protein Family (Hsp40) Member C11	Protein Coding	1
266	ACSS2	Acyl-CoA Synthetase Short Chain Family Member 2	Protein Coding	1
267	MAPK11	Mitogen-Activated Protein Kinase 11	Protein Coding	1
268	TWNK	Twinkle MtDNA Helicase	Protein Coding	1
269	RXRA	Retinoid X Receptor Alpha	Protein Coding	1
270	MAPK12	Mitogen-Activated Protein Kinase 12	Protein Coding	1
271	TFB2M	Transcription Factor B2, Mitochondrial	Protein Coding	1
272	CRTC3	CREB Regulated Transcription Coactivator 3	Protein Coding	1
273	SMARCD3	SWI/SNF Related BAF Chromatin Remodeling Complex Subunit D3	Protein Coding	1
274	SOD2	Superoxide Dismutase 2	Protein Coding	1
275	SSBP1	Single Stranded DNA Binding Protein 1	Protein Coding	1
276	TBL1X	Transducin Beta Like 1 X-Linked	Protein Coding	1
277	TFAM	Transcription Factor A, Mitochondrial	Protein Coding	1
278	APOO	Apolipoprotein O	Protein Coding	1
279	TBL1XR1	TBL1X/Y Related 1	Protein Coding	1
280	MTERF1	Mitochondrial Transcription Termination Factor 1	Protein Coding	1
281	CALM1	Calmodulin 1	Protein Coding	1
282	CHD9	Chromodomain Helicase DNA Binding Protein 9	Protein Coding	1
283	CALM2	Calmodulin 2	Protein Coding	1
284	CALM3	Calmodulin 3	Protein Coding	1
285	CAMK4	Calcium/Calmodulin Dependent Protein Kinase IV	Protein Coding	1
286	CHCHD6	Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing 6	Protein Coding	1
287	PERM1	PPARGC1 And ESRR Induced Regulator, Muscle 1	Protein Coding	1
288	ATP5MK	ATP Synthase Membrane Subunit K	Protein Coding	1
289	HELZ2	Helicase With Zinc Finger 2	Protein Coding	1
290	NCOA1	Nuclear Receptor Coactivator 1	Protein Coding	1
291	TMEM11	Transmembrane Protein 11	Protein Coding	1
292	HDAC3	Histone Deacetylase 3	Protein Coding	1
293	ATP5MF	ATP Synthase Membrane Subunit F	Protein Coding	1
294	ATP5MJ	ATP Synthase Membrane Subunit J	Protein Coding	1
295	NR1D1	Nuclear Receptor Subfamily 1 Group D Member 1	Protein Coding	1
296	NCOR1	Nuclear Receptor Corepressor 1	Protein Coding	1
297	TGS1	Trimethylguanosine Synthase 1	Protein Coding	1

Disorders associated with Organelle biogenesis and maintenance SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Jeune thoracic dystrophy	Enrichment	DYNC2H1, DYNC2I1, DYNC2I2, IFT140, IFT27, IFT74, IFT80, IFT81, TRAF3IP1, TTC21B, WDR19, WDR35	16.00
2	Meckel syndrome, type 1	Enrichment	B9D1, B9D2, CC2D2A, CEP290, EXOC4, MKS1, RPGRIP1L, TCTN1, TCTN2, TCTN3, TMEM216, TMEM67	12.02
3	Joubert syndrome 1	Enrichment	AHI1, ARL13B, B9D1, B9D2, C2CD3, CC2D2A, CEP290, CLUAP1, IFT172, INPP5E, MKS1, NPHP1, NPHP3, NPHP4, OFD1, RPGRIP1L, TCTN1, TCTN2, TCTN3, TMEM216, TMEM67	11.04
4	Bardet-biedl syndrome 1	Enrichment	ARL6, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, MKKS	10.96
5	Senior-loken syndrome 1	Enrichment	CEP164, CEP290, IQCB1, NPHP1, NPHP3, NPHP4, SDCCAG8, TRAF3IP1, TTC21B, WDR19	10.96
6	Retinitis pigmentosa	Enrichment	AHI1, ALMS1, ARL3, ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS7, BBS9, CC2D2A, CEP290, CNGB1, IFT122, IFT140, IFT172, IFT43, IFT81, IFT88, INPP5E, IQCB1, MKS1, NEK2, NPHP4, OFD1, RHO, RP2, TMEM216, TTC8	10.88
7	Asphyxiating thoracic dystrophy	Enrichment	DYNC2H1, DYNC2I1, DYNC2I2, IFT140, IFT27, IFT74, IFT80, IFT81, TRAF3IP1, TTC21B, WDR19, WDR35	10.86
8	Bardet-biedl syndrome	Enrichment	ALMS1, ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, CEP290, IFT172, IFT27, IFT74, IQCB1, LZTFL1, MKKS, MKS1, NPHP1, NPHP4, RPGRIP1L, SCLT1, SDCCAG8, TMEM67, TTC8	10.82
9	Short-rib thoracic dysplasia 1 with or without polydactyly	Enrichment	DYNC2H1, DYNC2I1, DYNC2I2, DYNC2LI1, IFT140, IFT172, IFT27, IFT74, IFT80, IFT81, TRAF3IP1, TTC21B, WDR19, WDR35	10.77
10	Isolated joubert syndrome	Enrichment	AHI1, ARL13B, ARL3, B9D1, B9D2, CEP41, IFT74, INPP5E, MKS1, OFD1, PDE6D, TCTN1, TCTN2, TCTN3, TMEM67	10.72
11	Hereditary retinal dystrophy	Enrichment	AHI1, ALMS1, ARL6, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, CC2D2A, CEP164, CEP250, CEP290, CEP78, CNGB1, DYNC2H1, IFT140, IFT172, IFT81, INPP5E, IQCB1, MKKS, NEK2, NPHP1, NPHP4, OFD1, RHO, RP2, SDCCAG8, TTC21B, TTC8, WDR19	10.69
12	Fundus dystrophy	Enrichment	AHI1, ALMS1, ARL6, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, CC2D2A, CEP164, CEP250, CEP290, CEP78, CNGB1, DYNC2H1, IFT140, IFT172, IFT81, INPP5E, IQCB1, MKKS, NEK2, NPHP1, NPHP4, OFD1, RHO, RP2, SDCCAG8, TTC21B, TTC8, WDR19	10.69
13	Lissencephaly	Enrichment	CPAP, DYNC1H1, PAFAH1B1, TUBA1A, TUBA3E, TUBB, TUBB2B, TUBB3, TUBG1	10.67
14	Nephronophthisis	Enrichment	AHI1, CEP290, IFT140, IQCB1, MKKS, NPHP1, NPHP3, NPHP4, TTC21B, WDR19	10.35
15	Cranioectodermal dysplasia	Enrichment	IFT122, IFT140, IFT43, IFT52, WDR19, WDR35	10.06
16	Short-rib thoracic dysplasia 3 with or without polydactyly	Enrichment	BBS10, DYNC1H1, DYNC2H1, DYNC2I1, DYNC2I2, DYNLT2B, KIF24	9.96
17	Leber plus disease	Enrichment	AHI1, ALMS1, BBS1, CC2D2A, CCT2, CEP290, CLUAP1, IFT140, INPP5E, IQCB1, RP2, RPGRIP1L, TUBB4B, WDR19	9.94
18	Coach syndrome 1	Enrichment	CC2D2A, INPP5E, OFD1, RPGRIP1L, TMEM67	9.15
19	Short rib-polydactyly syndrome, verma-naumoff type	Enrichment	DYNC2H1, DYNC2I1, DYNC2I2, IFT80, WDR35	9.15
20	Isolated atp synthase deficiency	Enrichment	ATP5F1A, ATP5F1D, ATP5F1E, ATP5MK, MT-ATP6, MT-ATP8	8.54
21	Polycystic kidney disease	Enrichment	CC2D2A, CEP290, IFT140, MKKS, NPHP3, PKD1, PKD2	8.41
22	Short rib-polydactyly syndrome	Enrichment	DYNC2H1, IFT43, IFT52, IFT81, WDR35	8.39
23	Short-rib thoracic dysplasia 12	Enrichment	DYNC2H1, IFT122, IFT80, TTC21B, WDR19	7.43
24	Joubert syndrome with ocular defect	Enrichment	AHI1, CEP41, INPP5E, MKS1	6.64
25	Short-rib thoracic dysplasia 6 with or without polydactyly	Enrichment	DYNC2H1, IFT172, IFT80, TRAF3IP1, TTC21B	6.31
26	Cranioectodermal dysplasia 1	Enrichment	IFT122, IFT140, WDR19, WDR35	5.80
27	Polycystic kidney disease 4 with or without polycystic liver disease	Enrichment	CYS1, DYNC2H1, PKD1, PKD2	5.50
28	Meckel syndrome, type 6	Enrichment	CC2D2A, CEP290, TCTN2	5.49
29	Tubulinopathy-associated dysgyria	Enrichment	TUBA1A, TUBB2B, TUBB3	5.49
30	Cystic kidney disease	Enrichment	CC2D2A, IFT140, PKD1, TMEM67	5.25
31	Tubulinopathy	Enrichment	TUBA1A, TUBB2A, TUBB2B	4.90
32	Orofaciodigital syndrome vi	Enrichment	OFD1, PDE6D, TCTN3, TMEM216	4.85
33	Ciliopathy	Enrichment	CC2D2A, CEP83, RPGRIP1L, TCTN3	4.85
34	Short-rib thoracic dysplasia 9 with or without polydactyly	Enrichment	IFT140, IFT172, WDR19	4.50
35	Seckel syndrome	Enrichment	CEP152, CPAP, PCNT, PLK4	4.38
36	Congenital fibrosis of the extraocular muscles	Enrichment	TUBA1A, TUBB2B, TUBB3	4.21
37	Multicystic kidney dysplasia	Enrichment	MKKS, PKD1, PKD2	4.21
38	Multicystic dysplastic kidney	Enrichment	MKKS, PKD1, PKD2	4.21
39	Primary autosomal recessive microcephaly	Enrichment	CDK5RAP2, CEP135, CEP152, CEP63, CPAP	4.01
40	Arima syndrome	Enrichment	CC2D2A, CEP290, TMEM216	3.97
41	Eye disease	Enrichment	AHI1, ALMS1, ARL6, BBS9, RP2	3.81
42	Infantile nephronophthisis	Enrichment	CEP83, NPHP3, TTC21B	3.77
43	Pallister-hall-like syndrome	Enrichment	SCLT1, SMO	3.66
44	Nephronophthisis 4	Enrichment	BBS9, NPHP4	3.66
45	Bardet-biedl syndrome 22	Enrichment	IFT172, IFT74	3.66
46	Joubert syndrome 10	Enrichment	CC2D2A, OFD1	3.66
47	Lissencephaly 3	Enrichment	CPAP, TUBA1A	3.66
48	Cardiomyopathy, infantile hypertrophic	Enrichment	MT-ATP6, MT-ATP8	3.32
49	Periodic paralysis with later-onset distal motor neuropathy	Enrichment	MT-ATP6, MT-ATP8	3.32
50	Cone-rod dystrophy 2	Enrichment	ALMS1, CEP290, CEP78, IFT81, RHO, RP2	3.30
51	Catecholaminergic polymorphic ventricular tachycardia	Enrichment	CALM1, CALM2, CALM3	3.27
52	Seckel syndrome 5	Enrichment	CEP152, CPAP	3.19
53	Miller-dieker lissencephaly syndrome	Enrichment	PAFAH1B1, YWHAE	3.19
54	Chromosome 17p13.3, centromeric, duplication syndrome	Enrichment	PAFAH1B1, YWHAE	3.19
55	End stage renal disease	Enrichment	ALMS1, PKD1	3.19
56	Congenital nervous system abnormality	Enrichment	BBS12, CEP290, DYNC1H1, TMEM216, TMEM67, TUBA1A, TUBB4A	3.00
57	Nervous system disease	Enrichment	BBS12, CEP290, DYNC1H1, TMEM216, TMEM67, TUBA1A, TUBB4A	3.00
58	Connective tissue disease	Enrichment	OFD1, TRIP11, TTC21B, WDR19	2.92
59	Autosomal dominant polycystic kidney disease	Enrichment	IFT140, PKD1, PKD2	2.89
60	Kidney disease	Enrichment	CEP290, NPHP4, PKD1	2.89
61	Orofaciodigital syndrome iii	Enrichment	IFT140, OFD1	2.89
62	Joubert syndrome 4	Enrichment	NPHP1, RPGRIP1L	2.89
63	Bardet-biedl syndrome 14	Enrichment	CEP290, TMEM67	2.89
64	Oligohydramnios	Enrichment	CC2D2A, TMEM67	2.89
65	Isolated congenital microcephaly	Enrichment	CPAP, RAB11A, TUBA3E	2.81
66	Polycystic liver disease 1 with or without kidney cysts	Enrichment	PKD1, PKD2	2.67
67	Chromosome 15q11.2 deletion syndrome	Enrichment	PAFAH1B1, TUBG1	2.67
68	Polycystic liver disease 1	Enrichment	PKD1, PKD2	2.67
69	Night blindness	Enrichment	CEP290, RHO	2.67
70	Cardiomyopathy, infantile histiocytoid	Enrichment	MT-ATP6, MT-ATP8	2.56
71	Renal dysplasia, cystic	Enrichment	CEP290, PKD1	2.50
72	Corpus callosum, agenesis of	Enrichment	CDK5RAP2, CREBBP, TUBA1A	2.41
73	Isolated corpus callosum agenesis	Enrichment	CDK5RAP2, CREBBP, TUBA1A	2.41
74	Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome	Enrichment	CDK5RAP2, CREBBP, TUBA1A	2.41
75	Long qt syndrome 1	Enrichment	AKAP9, CALM1, CALM2, CALM3	2.40
76	Polycystic kidney disease 1 with or without polycystic liver disease	Enrichment	PKD1, PKD2	2.36
77	Polymicrogyria, bilateral perisylvian, x-linked	Enrichment	TUBA1A, TUBB2B	2.36
78	Polycystic kidney disease 1	Enrichment	PKD1, PKD2	2.36
79	Hypertension	Enrichment	MTX2, PKD1, PKD2	2.33
80	Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1	Enrichment	POLG2, TWNK	2.17
81	Ellis-van creveld syndrome	Enrichment	DYNC2LI1, PRKACA	2.13
82	Polydactyly	Enrichment	CC2D2A, MKS1	2.13
83	Bilateral perisylvian polymicrogyria	Enrichment	TUBA1A, TUBB2B	2.13
84	Spastic ataxia	Enrichment	CEP290, MKS1, TMEM67, TUBB3	2.11
85	Polymicrogyria	Enrichment	DYNC1H1, OFD1	2.04
86	Autosomal dominant macrothrombocytopenia	Enrichment	TUBA8, TUBB1	2.04
87	Primary bone dysplasia	Enrichment	DYNC2H1, INPP5E	2.04
88	Microcephaly	Enrichment	CC2D2A, CDK5RAP2, CPAP, DYNC1H1, TUBB4A, YWHAG	2.00
89	Osteochondrodysplasia	Enrichment	DYNC2H1, INPP5E	1.96
90	Specific learning disability	Enrichment	BBIP1, YWHAG	1.96
91	Skin creases, congenital symmetric circumferential, 1	Enrichment	TUBB	1.83
92	Perry syndrome	Enrichment	DCTN1	1.83
93	Achondrogenesis, type ia	Enrichment	TRIP11	1.83
94	Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia	Enrichment	HDAC6	1.83
95	Retinitis pigmentosa 23	Enrichment	OFD1	1.83
96	Bardet-biedl syndrome 3	Enrichment	ARL6	1.83
97	Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement	Enrichment	TUBB3	1.83
98	Simpson-golabi-behmel syndrome, type 2	Enrichment	OFD1	1.83
99	Curry-jones syndrome	Enrichment	SMO	1.83
100	Microcephaly 3, primary, autosomal recessive	Enrichment	CDK5RAP2	1.83
101	Joubert syndrome 7	Enrichment	RPGRIP1L	1.83
102	Night blindness, congenital stationary, autosomal dominant 1	Enrichment	RHO	1.83
103	Joubert syndrome 2	Enrichment	TMEM216	1.83
104	Joubert syndrome 3	Enrichment	AHI1	1.83
105	Senior-loken syndrome 5	Enrichment	IQCB1	1.83
106	Orofaciodigital syndrome xiv	Enrichment	C2CD3	1.83
107	Microcephaly 9, primary, autosomal recessive	Enrichment	CEP152	1.83
108	Microcephaly and chorioretinopathy, autosomal recessive, 2	Enrichment	PLK4	1.83
109	Microcephaly 8, primary, autosomal recessive	Enrichment	CEP135	1.83
110	Mckusick-kaufman syndrome	Enrichment	MKKS	1.83
111	Cortical dysplasia, complex, with other brain malformations 6	Enrichment	TUBB	1.83
112	Meckel syndrome, type 3	Enrichment	TMEM67	1.83
113	Bardet-biedl syndrome 12	Enrichment	BBS12	1.83
114	Bardet-biedl syndrome 17	Enrichment	LZTFL1	1.83
115	Macrothrombocytopenia, isolated, 1, autosomal dominant	Enrichment	TUBB1	1.83
116	Odontochondrodysplasia 1	Enrichment	TRIP11	1.83
117	Advanced sleep phase syndrome, familial, 2	Enrichment	CSNK1D	1.83
118	Retinitis pigmentosa 55	Enrichment	ARL6	1.83
119	Senior-loken syndrome 8	Enrichment	WDR19	1.83
120	Bardet-biedl syndrome 4	Enrichment	BBS4	1.83
121	Joubert syndrome 6	Enrichment	TMEM67	1.83
122	Cone-rod dystrophy and hearing loss 1	Enrichment	CEP78	1.83
123	Joubert syndrome 8	Enrichment	ARL13B	1.83
124	Cranioectodermal dysplasia 4	Enrichment	WDR19	1.83
125	Microcephalic osteodysplastic primordial dwarfism, type ii	Enrichment	PCNT	1.83
126	Retinitis pigmentosa 98	Enrichment	TMEM216	1.83
127	Joubert syndrome 22	Enrichment	PDE6D	1.83
128	Rhyns syndrome	Enrichment	TMEM67	1.83
129	Retinitis pigmentosa 93	Enrichment	CC2D2A	1.83
130	Orofaciodigital syndrome xviii	Enrichment	IFT57	1.83
131	Leber congenital amaurosis with early-onset deafness	Enrichment	TUBB4B	1.83
132	Joubert syndrome 35	Enrichment	ARL3	1.83
133	Short-rib thoracic dysplasia 18 with polydactyly	Enrichment	IFT43	1.83
134	Intellectual developmental disorder with polymicrogyria and seizures	Enrichment	TCP1	1.83
135	Charcot-marie-tooth disease, axonal, type 2gg	Enrichment	GBF1	1.83
136	Meckel syndrome, type 9	Enrichment	B9D1	1.83
137	Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive	Enrichment	CCT5	1.83
138	Oocyte/zygote/embryo maturation arrest 24	Enrichment	TUBA1C	1.83
139	Biliary, renal, neurologic, and skeletal syndrome	Enrichment	IFT56	1.83
140	Joubert syndrome 9	Enrichment	CC2D2A	1.83
141	Bardet-biedl syndrome 8	Enrichment	TTC8	1.83
142	Spinocerebellar ataxia 11	Enrichment	TTBK2	1.83
143	Coach syndrome 2	Enrichment	CC2D2A	1.83
144	Coach syndrome 3	Enrichment	RPGRIP1L	1.83
145	Autosomal recessive sensory neuropathy with spastic paraplegia	Enrichment	CCT5	1.83
146	Houge-janssens syndrome 2	Enrichment	PPP2R1A	1.83
147	Spermatogenic failure 72	Enrichment	WDR19	1.83
148	Bardet-biedl syndrome 6	Enrichment	MKKS	1.83
149	Long qt syndrome 11	Enrichment	AKAP9	1.83
150	Meckel syndrome, type 2	Enrichment	TMEM216	1.83
151	Microhydranencephaly	Enrichment	NDE1	1.83
152	Neuronopathy, distal hereditary motor, autosomal dominant 14	Enrichment	DCTN1	1.83
153	Senior-loken syndrome 4	Enrichment	NPHP4	1.83
154	Impaired intellectual development, truncal obesity, retinal dystrophy, and micropenis syndrome	Enrichment	INPP5E	1.83
155	Short-rib thoracic dysplasia 5 with or without polydactyly	Enrichment	WDR19	1.83
156	Cortical dysplasia, complex, with other brain malformations 7	Enrichment	TUBB2B	1.83
157	Joubert syndrome 15	Enrichment	CEP41	1.83
158	Cranioectodermal dysplasia 3	Enrichment	IFT43	1.83
159	Bardet-biedl syndrome 18	Enrichment	BBIP1	1.83
160	Nephronophthisis 15	Enrichment	CEP164	1.83
161	Lissencephaly 4 with microcephaly	Enrichment	NDE1	1.83
162	Retinitis pigmentosa 89	Enrichment	KIF3B	1.83
163	Oocyte/zygote/embryo maturation arrest 23	Enrichment	TUBA4A	1.83
164	Nephronophthisis 13	Enrichment	WDR19	1.83
165	Bardet-biedl syndrome 7	Enrichment	BBS7	1.83
166	Retinitis pigmentosa 67	Enrichment	NEK2	1.83
167	Frontotemporal dementia and/or amyotrophic lateral sclerosis 9	Enrichment	TUBA4A	1.83
168	Pigmented nodular adrenocortical disease, primary, 4	Enrichment	PRKACA	1.83
169	Seckel syndrome 6	Enrichment	CEP63	1.83
170	Microcephaly and chorioretinopathy 2	Enrichment	PLK4	1.83
171	Meckel syndrome, type 5	Enrichment	RPGRIP1L	1.83
172	Nephronophthisis 11	Enrichment	TMEM67	1.83
173	Retinitis pigmentosa 4	Enrichment	RHO	1.83
174	Peritonitis	Enrichment	TMEM67	1.83
175	Meckel syndrome, type 10	Enrichment	B9D2	1.83
176	Retinitis pigmentosa 45	Enrichment	CNGB1	1.83
177	Joubert syndrome 27	Enrichment	B9D1	1.83
178	Retinitis pigmentosa 51	Enrichment	TTC8	1.83
179	Meckel syndrome, type 8	Enrichment	TCTN2	1.83
180	Retinitis pigmentosa 74	Enrichment	BBS2	1.83
181	Joubert syndrome 13	Enrichment	TCTN1	1.83
182	Developmental and epileptic encephalopathy 56	Enrichment	YWHAG	1.83
183	Retinitis pigmentosa 81	Enrichment	IFT43	1.83
184	Short-rib thoracic dysplasia 8 with or without polydactyly	Enrichment	DYNC2I1	1.83
185	Dync1h1-related disorders	Enrichment	DYNC1H1	1.83
186	Cardioacrofacial dysplasia 1	Enrichment	PRKACA	1.83
187	Senior-loken syndrome 9	Enrichment	TRAF3IP1	1.83
188	Short-rib thoracic dysplasia 16 with or without polydactyly	Enrichment	IFT52	1.83
189	Facial palsy, congenital, with ptosis and velopharyngeal dysfunction	Enrichment	TUBB6	1.83
190	Short-rib thoracic dysplasia 19 with or without polydactyly	Enrichment	IFT81	1.83
191	Joubert syndrome 40	Enrichment	IFT74	1.83
192	Retinitis pigmentosa 83	Enrichment	ARL3	1.83
193	Neurodevelopmental disorder with seizures and brain atrophy	Enrichment	EXOC7	1.83
194	Neurodevelopmental disorder with microcephaly and structural brain anomalies	Enrichment	DYNC1I2	1.83
195	Spermatogenic failure 58	Enrichment	IFT74	1.83
196	Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy	Enrichment	EXOC8	1.83
197	Hydranencephaly	Enrichment	NDE1	1.83
198	Joubert syndrome 24	Enrichment	TCTN2	1.83
199	Macrothrombocytopenia, isolated, 2, autosomal dominant	Enrichment	TUBA8	1.83
200	Nephronophthisis 18	Enrichment	CEP83	1.83
201	Bardet-biedl syndrome 2	Enrichment	BBS2	1.83
202	Lung disease	Enrichment	DYNC2H1	1.83
203	Lissencephaly due to tuba1a mutation	Enrichment	TUBA1A	1.83
204	Nde1-related microhydranencephaly	Enrichment	NDE1	1.83
205	Congenital myopathy 26	Enrichment	TUBA4A	1.83
206	Spastic ataxia 11, autosomal dominant	Enrichment	TUBA4A	1.83
207	Amyotrophic lateral sclerosis type 22	Enrichment	TUBA4A	1.83
208	Neurodevelopmental disorder with speech or visual impairment and brain hypomyelination	Enrichment	CCT3	1.83
209	Pancreatitis	Enrichment	TMEM67	1.83
210	Polymicrogyria with optic nerve hypoplasia	Enrichment	TUBA8	1.83
211	Renovascular hypertension	Enrichment	PKD1	1.83
212	Lissencephaly due to lis1 mutation	Enrichment	PAFAH1B1	1.83
213	Ppp2r1a-related neurodevelopmental disorder	Enrichment	PPP2R1A	1.83
214	Syndromic inherited retinal disorder	Enrichment	MKKS	1.83
215	Distal 17p13.3 microdeletion syndrome	Enrichment	YWHAE	1.83
216	Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly	Enrichment	CC2D2A, INPP5E	1.82
217	Clubfoot	Enrichment	CC2D2A, INPP5E	1.82
218	Chronic kidney disease	Enrichment	MKS1, PKD2	1.82
219	Cone-rod dystrophy 6	Enrichment	ARL3, MKKS	1.75
220	Optic nerve disease	Enrichment	MT-ATP6, MT-ATP8	1.72
221	Polydactyly, postaxial, type a1	Enrichment	BBS12, CC2D2A	1.69
222	Ataxia and polyneuropathy, adult-onset	Enrichment	MT-ATP6	1.66
223	Hypothyroidism, congenital, nongoitrous, 8	Enrichment	TBL1X	1.66
224	Myopathy, lactic acidosis, and sideroblastic anemia 3	Enrichment	MT-ATP6	1.66
225	Optic atrophy 13 with retinal and foveal abnormalities	Enrichment	SSBP1	1.66
226	Microvascular complications of diabetes 6	Enrichment	SOD2	1.66
227	Even-plus syndrome	Enrichment	HSPA9	1.66
228	Anemia, sideroblastic, 4	Enrichment	HSPA9	1.66
229	Dystonia, early-onset, and/or spastic paraplegia	Enrichment	ATP5MC3	1.66
230	Mandibuloacral dysplasia progeroid syndrome	Enrichment	MTX2	1.66
231	Mitochondrial complex v deficiency, nuclear type 6	Enrichment	ATP5MK	1.66
232	Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3	Enrichment	TWNK	1.66
233	Mitochondrial complex v deficiency, nuclear type 4b	Enrichment	ATP5F1A	1.66
234	Cardiomyopathy, familial hypertrophic, 6	Enrichment	PRKAG2	1.66
235	Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language	Enrichment	MEF2C	1.66
236	Glycogen storage disease of heart, lethal congenital	Enrichment	PRKAG2	1.66
237	Perrault syndrome 5	Enrichment	TWNK	1.66
238	Hyperinsulinemic hypoglycemia, familial, 6	Enrichment	GLUD1	1.66
239	Gemistocytic astrocytoma	Enrichment	IDH2	1.66
240	Protoplasmic astrocytoma	Enrichment	IDH2	1.66
241	D-2-hydroxyglutaric aciduria 2	Enrichment	IDH2	1.66
242	Long qt syndrome 16	Enrichment	CALM3	1.66
243	Combined oxidative phosphorylation deficiency 22	Enrichment	ATP5F1A	1.66
244	Mixed oligodendroglioma-astrocytoma	Enrichment	IDH2	1.66
245	Skeletal muscle glycogen content and metabolism quantitative trait locus	Enrichment	PRKAG3	1.66
246	Combined oxidative phosphorylation deficiency 37	Enrichment	MICOS13	1.66
247	Anaplastic oligoastrocytoma	Enrichment	IDH2	1.66
248	Mitochondrial complex v deficiency, nuclear type 4a	Enrichment	ATP5F1A	1.66
249	Menke-hennekam syndrome 1	Enrichment	CREBBP	1.66
250	Combined oxidative phosphorylation deficiency 55	Enrichment	POLRMT	1.66
251	Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2	Enrichment	ATP5F1B	1.66
252	Long qt syndrome 15	Enrichment	CALM2	1.66
253	Rubinstein-taybi syndrome due to 16p13.3 microdeletion	Enrichment	CREBBP	1.66
254	Mitochondrial dna depletion syndrome, hepatocerebrorenal form	Enrichment	TWNK	1.66
255	Fibrillary astrocytoma	Enrichment	IDH2	1.66
256	Acute myocardial infarction	Enrichment	IDH2	1.66
257	5q14.3 microdeletion syndrome	Enrichment	MEF2C	1.66
258	Complete atrioventricular septal defect without ventricular hypoplasia	Enrichment	MEF2C	1.66
259	Menke-hennekam syndrome	Enrichment	CREBBP	1.66
260	Mef2c-related disorder	Enrichment	MEF2C	1.66
261	Maternally-inherited spastic paraplegia	Enrichment	MT-ATP6	1.66
262	Pigmentation anomaly of the skin	Enrichment	MTX2	1.66
263	Hydrocephalus, congenital, 1	Enrichment	OFD1, TUBB	1.64
264	Optic atrophy plus syndrome	Enrichment	BBS7, NPHP3, TUBB6	1.57
265	Lactic acidosis	Enrichment	APOO, ATP5F1A	1.56
266	Aortic aneurysm, familial thoracic 4	Enrichment	NDE1	1.53
267	Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant	Enrichment	DYNC1H1	1.53
268	Dystonia 4, torsion, autosomal dominant	Enrichment	TUBB4A	1.53
269	Microcephalic osteodysplastic primordial dwarfism, type i	Enrichment	CLASP1	1.53
270	Lowry-wood syndrome	Enrichment	CLASP1	1.53
271	Nephronophthisis 1	Enrichment	NPHP1	1.53
272	Spondyloepiphyseal dysplasia tarda, x-linked	Enrichment	OFD1	1.53
273	Retinitis pigmentosa 2	Enrichment	RP2	1.53
274	Orofaciodigital syndrome i	Enrichment	OFD1	1.53
275	Cataract 11, multiple types	Enrichment	GBF1	1.53
276	Anterior segment dysgenesis 1	Enrichment	GBF1	1.53
277	Short-rib thoracic dysplasia 2 with or without polydactyly	Enrichment	IFT80	1.53
278	Microcephaly 6, primary, autosomal recessive	Enrichment	CPAP	1.53
279	Seckel syndrome 4	Enrichment	CPAP	1.53
280	Lissencephaly 1	Enrichment	PAFAH1B1	1.53
281	Bardet-biedl syndrome 10	Enrichment	BBS10	1.53
282	Joubert syndrome 18	Enrichment	TCTN3	1.53
283	Muscular dystrophy, limb-girdle, autosomal recessive 3	Enrichment	TUBA1A	1.53
284	Mosaic variegated aneuploidy syndrome 2	Enrichment	CEP57	1.53
285	Short-rib thoracic dysplasia 17 with or without polydactyly	Enrichment	DYNLT2B	1.53
286	Nephronophthisis 12	Enrichment	TTC21B	1.53
287	Leber congenital amaurosis 6	Enrichment	MKS1	1.53
288	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	Enrichment	DYNC1I2	1.53
289	Orofaciodigital syndrome iv	Enrichment	TCTN3	1.53
290	Bardet-biedl syndrome 5	Enrichment	BBS5	1.53
291	Cranioectodermal dysplasia 2	Enrichment	WDR35	1.53
292	Short-rib thoracic dysplasia 4 with or without polydactyly	Enrichment	TTC21B	1.53
293	Roifman syndrome	Enrichment	CLASP1	1.53
294	Cortical dysplasia, complex, with other brain malformations 13	Enrichment	DYNC1H1	1.53
295	Cone-rod dystrophy and hearing loss 2	Enrichment	CEP250	1.53
296	Polycystic kidney disease 9	Enrichment	IFT140	1.53
297	Megacystis-microcolon-intestinal hypoperistalsis syndrome 2	Enrichment	NDE1	1.53
298	Cortical dysplasia, complex, with other brain malformations 4	Enrichment	TUBG1	1.53
299	Neuropathy, congenital hypomyelinating, 2	Enrichment	RHO	1.53
300	Sitosterolemia 2	Enrichment	DYNC2LI1	1.53
301	Keratoconus 9	Enrichment	TUBA3D	1.53
302	Autosomal recessive limb-girdle muscular dystrophy type 2d	Enrichment	TUBA1A	1.53
303	Cranioectodermal dysplasia 5	Enrichment	IFT140	1.53
304	Spinal muscular atrophy with lower extremity predominant	Enrichment	DYNC1H1	1.53
305	Senior-loken syndrome 7	Enrichment	SDCCAG8	1.53
306	Spondyloepiphyseal dysplasia tarda	Enrichment	OFD1	1.53
307	Optic disk drusen	Enrichment	RHO	1.53
308	Bardet-biedl syndrome 13	Enrichment	MKS1	1.53
309	Short-rib thoracic dysplasia 15 with polydactyly	Enrichment	DYNC2LI1	1.53
310	Fibrolamellar carcinoma	Enrichment	PRKACA	1.53
311	Cortical dysplasia, complex, with other brain malformations 1	Enrichment	TUBB3	1.53
312	Charcot-marie-tooth disease, axonal, type 2o	Enrichment	DYNC1H1	1.53
313	Bardet-biedl syndrome 9	Enrichment	BBS9	1.53
314	Visceral myopathy 2	Enrichment	NDE1	1.53
315	Bardet-biedl syndrome 16	Enrichment	SDCCAG8	1.53
316	Rnu4atac-opathy	Enrichment	CLASP1	1.53
317	Short-rib thoracic dysplasia 7 with or without polydactyly	Enrichment	WDR35	1.53
318	Joubert syndrome 28	Enrichment	MKS1	1.53
319	Torsion dystonia 4	Enrichment	TUBB4A	1.53
320	Polycystic kidney disease 3	Enrichment	PKD1	1.53
321	Multiple benign circumferential skin creases on limbs	Enrichment	TUBB	1.53
322	Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia	Enrichment	EXOC2	1.53
323	Distal hereditary motor neuropathy type 7	Enrichment	DCTN1	1.53
324	Short femur	Enrichment	INPP5E	1.53
325	Cerebellar malformation	Enrichment	TMEM67	1.53
326	Senior-boichis syndrome	Enrichment	TMEM67	1.53
327	Continuous spikes and waves during sleep	Enrichment	TUBA1A	1.53
328	Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene	Enrichment	IFT140	1.53
329	Long qt syndrome	Enrichment	AKAP9, CALM1, CALM2	1.53
330	Aortic valve disease 1	Enrichment	MT-ATP6, MT-ATP8	1.50
331	Charcot-marie-tooth disease, demyelinating, type 1a	Enrichment	MT-ATP6	1.36
332	Thumb deformity	Enrichment	CREBBP	1.36
333	L-2-hydroxyglutaric aciduria	Enrichment	DMAC2L	1.36
334	Histiocytoma, angiomatoid fibrous	Enrichment	CREB1	1.36
335	Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4	Enrichment	POLG2	1.36
336	Ventricular tachycardia, catecholaminergic polymorphic, 4	Enrichment	CALM1	1.36
337	Long qt syndrome 14	Enrichment	CALM1	1.36
338	Hypothyroidism, congenital, nongoitrous, 6	Enrichment	NR1D1	1.36
339	Mitochondrial dna depletion syndrome 16b	Enrichment	POLG2	1.36
340	Acute myeloid leukemia with kat6a-crebbp fusion	Enrichment	CREBBP	1.36
341	Charcot-marie-tooth disease type 1a	Enrichment	MT-ATP6	1.36
342	Oligodendroglioma	Enrichment	IDH2	1.36
343	Depressive disorder	Enrichment	TWNK	1.36
344	Mitochondrial dna depletion syndrome 16	Enrichment	POLG2	1.36
345	Autosomal recessive sideroblastic anemia	Enrichment	HSPA9	1.36
346	Anaplastic oligodendroglioma	Enrichment	IDH2	1.36
347	Mitochondrial dna depletion syndrome 15	Enrichment	TFAM	1.36
348	D-2-hydroxyglutaric aciduria	Enrichment	IDH2	1.36
349	Anosmia, isolated congenital	Enrichment	CNGA2	1.36
350	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	Enrichment	TUBB1	1.36
351	Spondyloepiphyseal dysplasia congenita	Enrichment	CLASP1	1.36
352	Alstrom syndrome	Enrichment	ALMS1	1.36
353	Simpson-golabi-behmel syndrome, type 1	Enrichment	OFD1	1.36
354	Polycystic kidney disease, infantile severe, with tuberous sclerosis	Enrichment	PKD1	1.36
355	Retinitis pigmentosa 3	Enrichment	RP2	1.36
356	Band heterotopia	Enrichment	PAFAH1B1	1.36
357	Caroli disease, isolated	Enrichment	IFT56	1.36
358	Meckel syndrome, type 7	Enrichment	NPHP3	1.36
359	Nephronophthisis 2	Enrichment	TTC21B	1.36
360	Senior-loken syndrome 6	Enrichment	CEP290	1.36
361	Nephronophthisis 3	Enrichment	NPHP3	1.36
362	Leukodystrophy, hypomyelinating, 6	Enrichment	TUBB4A	1.36
363	Joubert syndrome 5	Enrichment	CEP290	1.36
364	Tuberous sclerosis 2	Enrichment	PKD1	1.36
365	Polycystic kidney disease 2 with or without polycystic liver disease	Enrichment	PKD2	1.36
366	Sitosterolemia 1	Enrichment	DYNC2LI1	1.36
367	Myopathy, myofibrillar, 7	Enrichment	CEP63	1.36
368	Bardet-biedl syndrome 19	Enrichment	IFT27	1.36
369	Oocyte/zygote/embryo maturation arrest 2	Enrichment	TUBB8	1.36
370	Short-rib thoracic dysplasia 11 with or without polydactyly	Enrichment	DYNC2I2	1.36
371	Cortical dysplasia, complex, with other brain malformations 5	Enrichment	TUBB2A	1.36
372	Caroli disease	Enrichment	IFT56	1.36
373	Sitosterolemia	Enrichment	DYNC2LI1	1.36
374	Polycystic kidney disease 2	Enrichment	PKD2	1.36
375	Interstitial lung disease	Enrichment	INPP5E	1.36
376	Retinitis pigmentosa 80	Enrichment	IFT140	1.36
377	Microcephaly 17, primary, autosomal recessive	Enrichment	RHO	1.36
378	Renal-hepatic-pancreatic dysplasia	Enrichment	NPHP3	1.36
379	Cog7-congenital disorder of glycosylation	Enrichment	CEP290	1.36
380	Respiratory failure	Enrichment	INPP5E	1.36
381	Occipital encephalocele	Enrichment	CEP290	1.36
382	Advanced sleep phase syndrome	Enrichment	CSNK1D	1.36
383	Tricuspid valve insufficiency	Enrichment	NDE1	1.36
384	Late-onset nephronophthisis	Enrichment	NPHP3	1.36
385	Cone dystrophy	Enrichment	BBS5, WDR19	1.31
386	Auditory neuropathy	Enrichment	CEP135, TUBB4A	1.25
387	Renal-hepatic-pancreatic dysplasia 1	Enrichment	NPHP3	1.24
388	Astigmatism	Enrichment	SCLT1	1.24
389	Meckel syndrome, type 4	Enrichment	CEP290	1.24
390	Short-rib thoracic dysplasia 10 with or without polydactyly	Enrichment	IFT172	1.24
391	Retinitis pigmentosa 71	Enrichment	IFT172	1.24
392	Bardet-biedl syndrome 20	Enrichment	IFT172	1.24
393	Tuberous sclerosis	Enrichment	PKD1	1.24
394	Newborn respiratory distress syndrome	Enrichment	DYNC2H1	1.24
395	Anencephaly	Enrichment	CC2D2A	1.24
396	Autosomal recessive chorioretinopathy-microcephaly syndrome	Enrichment	PLK4	1.24
397	Mitral valve insufficiency	Enrichment	NDE1	1.24
398	Orofaciodigital syndrome	Enrichment	OFD1	1.24
399	Charcot-marie-tooth disease	Enrichment	DCTN1, DYNC1H1, MT-ATP6	1.22
400	Diffuse large b-cell lymphoma	Enrichment	CREBBP, TBL1XR1	1.19
401	Mitochondrial complex iv deficiency, nuclear type 5	Enrichment	ATP5F1A	1.19
402	Methylmalonic aciduria and homocystinuria, cblx type	Enrichment	HCFC1	1.19
403	Pierpont syndrome	Enrichment	TBL1XR1	1.19
404	Mitochondrial dna depletion syndrome 7	Enrichment	TWNK	1.19
405	Retinitis pigmentosa 40	Enrichment	ATP5ME	1.19
406	Mitochondrial complex v deficiency, nuclear type 7	Enrichment	ATP5PO	1.19
407	Mitochondrial complex v deficiency, nuclear type 5	Enrichment	ATP5F1D	1.19
408	Renu syndrome	Enrichment	SIRT4	1.19
409	Tethered spinal cord syndrome	Enrichment	CREBBP	1.19
410	Chronic progressive external ophthalmoplegia	Enrichment	TWNK	1.19
411	Anaplastic astrocytoma	Enrichment	IDH2	1.19
412	Intraocular pressure quantitative trait locus	Enrichment	CREBBP	1.19
413	Gonadal dysgenesis	Enrichment	MT-ATP6	1.19
414	Intellectual developmental disorder, autosomal dominant 41	Enrichment	TBL1XR1	1.19
415	Melanoma of soft tissue	Enrichment	CREB1	1.19
416	Acute liver failure	Enrichment	POLG2	1.19
417	Retinal detachment	Enrichment	RHO	1.14
418	Arthrogryposis, renal dysfunction, and cholestasis 1	Enrichment	CPAP	1.14
419	Microcephaly 1, primary, autosomal recessive	Enrichment	CPAP	1.14
420	Pseudovaginal perineoscrotal hypospadias	Enrichment	BBIP1	1.14
421	Polycystic kidney disease 3 with or without polycystic liver disease	Enrichment	PKD1	1.14
422	Mosaic variegated aneuploidy syndrome 1	Enrichment	CEP57	1.14
423	Leber congenital amaurosis 10	Enrichment	CEP290	1.14
424	Lissencephaly 2	Enrichment	NDE1	1.14
425	Hemangioma	Enrichment	PKD1	1.14
426	Spinal muscular atrophy	Enrichment	DYNC1H1	1.14
427	Macular degeneration	Enrichment	BBS10	1.14
428	Female infertility due to oocyte meiotic arrest	Enrichment	TUBB8	1.14
429	Joubert syndrome with jeune asphyxiating thoracic dystrophy	Enrichment	IFT140	1.14
430	Genetic motor neuron disease	Enrichment	DCTN1	1.14
431	Farsightedness	Enrichment	SCLT1	1.14
432	Endometrial stromal sarcoma	Enrichment	YWHAE	1.14
433	Mitochondrial complex v deficiency, nuclear type 3	Enrichment	ATP5F1E	1.07
434	Familial infantile bilateral striatal necrosis	Enrichment	MT-ATP6	1.07
435	Usher syndrome	Enrichment	BBS1, CEP250	1.07
436	Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1	Enrichment	TUBB2B	1.07
437	Intestinal pseudo-obstruction	Enrichment	NDE1	1.07
438	Patent ductus arteriosus	Enrichment	INPP5E	1.07
439	Early myoclonic encephalopathy	Enrichment	TUBA1A	1.07
440	Kidney clear cell sarcoma	Enrichment	YWHAE	1.07
441	Infertility	Enrichment	NPHP4	1.07
442	Cakut	Enrichment	NPHP1, NPHP4	1.05
443	Fundus albipunctatus	Enrichment	RHO	1.00
444	Usher syndrome, type iiia	Enrichment	CEP78	1.00
445	Coats disease	Enrichment	RHO	1.00
446	Moyamoya angiopathy	Enrichment	CEP78	1.00
447	Enchondromatosis, multiple, ollier type	Enrichment	IDH2	0.98
448	3-methylglutaconic aciduria, type iii	Enrichment	MICOS13	0.98
449	Albinism, oculocutaneous, type ii	Enrichment	ATP5ME	0.98
450	Kearns-sayre syndrome	Enrichment	MT-ATP8	0.98
451	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	Enrichment	TWNK	0.98
452	Myasthenic syndrome, congenital, 8	Enrichment	PERM1	0.98
453	Mitochondrial complex v deficiency, mitochondrial type 1	Enrichment	MT-ATP6, MT-ATP8	0.96
454	Neuropathy, ataxia, and retinitis pigmentosa	Enrichment	MT-ATP6, MT-ATP8	0.96
455	Striatonigral degeneration, infantile, mitochondrial	Enrichment	MT-ATP6, MT-ATP8	0.96
456	Camptodactyly of fingers	Enrichment	MT-ATP6, MT-ATP8	0.96
457	Spastic paraplegia 4, autosomal dominant	Enrichment	OFD1	0.95
458	Spermatogenic failure 5	Enrichment	IFT74	0.95
459	Immunodeficiency 47	Enrichment	CEP290	0.95
460	Cryptorchidism	Enrichment	TUBA1A	0.95
461	Mosaic variegated aneuploidy syndrome	Enrichment	CEP57	0.95
462	Cerebral palsy	Enrichment	TUBA1A, TUBB4A	0.95
463	Mitochondrial disease	Enrichment	ATP5F1D, MT-ATP6, MT-ATP8, TWNK	0.91
464	Hyperinsulinemic hypoglycemia, familial, 1	Enrichment	GLUD1	0.91
465	Rubinstein-taybi syndrome 1	Enrichment	CREBBP	0.91
466	Chromosome 16p13.3 deletion syndrome, proximal	Enrichment	CREBBP	0.91
467	Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy	Enrichment	CALM1	0.91
468	Hypertrichosis	Enrichment	CREBBP	0.91
469	Nonsyndromic genetic hyperinsulinism	Enrichment	GLUD1	0.91
470	Nephrotic syndrome, type 1	Enrichment	TTC21B	0.90
471	Cryptorchidism, unilateral or bilateral	Enrichment	TUBA1A	0.90
472	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	Enrichment	DCTN1, MEF2C, PPARGC1A	0.87
473	West syndrome	Enrichment	CSNK1E, TUBA1A	0.86
474	Amyotrophic lateral sclerosis 1	Enrichment	DCTN1	0.86
475	Cat eye syndrome	Enrichment	TMEM67	0.86
476	Stickler syndrome	Enrichment	ALMS1	0.86
477	Multiple enchondromatosis, maffucci type	Enrichment	IDH2	0.84
478	Third-degree atrioventricular block	Enrichment	TWNK	0.84
479	Frontotemporal dementia 1	Enrichment	DCTN1	0.82
480	Glioma susceptibility 1	Enrichment	IDH2	0.79
481	Methylmalonic aciduria and homocystinuria, cblc type	Enrichment	HCFC1	0.79
482	Catecholaminergic polymorphic ventricular tachycardia 1	Enrichment	CALM1	0.79
483	Congenital hypothyroidism	Enrichment	TUBB1	0.78
484	Meningioma	Enrichment	SMO	0.78
485	Autosomal dominant non-syndromic intellectual disability	Enrichment	DYNC1H1, RAB11A	0.77
486	Microphthalmia/coloboma 12	Enrichment	TMEM67	0.75
487	Orofacial cleft 1	Enrichment	ACSS2	0.74
488	Mitochondrial myopathy, infantile, transient	Enrichment	MT-ATP6	0.74
489	Perrault syndrome 2	Enrichment	TWNK	0.74
490	Hypogonadotropic hypogonadism 7 with or without anosmia	Enrichment	BBIP1	0.72
491	Osteoporosis	Enrichment	OFD1	0.72
492	Cataract	Enrichment	RHO	0.72
493	Leigh syndrome, nuclear	Enrichment	ATP5PO, MT-ATP6, MT-ATP8	0.72
494	Leber hereditary optic neuropathy, modifier of	Enrichment	MT-ATP6, MT-ATP8	0.71
495	Mitochondrial myopathy with reversible cytochrome c oxidase deficiency	Enrichment	MT-ATP6	0.70
496	Rare mitochondrial non-syndromic sensorineural deafness	Enrichment	TFB1M	0.70
497	Coloboma of macula	Enrichment	TMEM67	0.70
498	Hydrocephalus	Enrichment	IFT56	0.70
499	Myopia	Enrichment	NDE1	0.70
500	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	Enrichment	MT-ATP6, MT-ATP8	0.69
501	Creatine phosphokinase, elevated serum	Enrichment	PKD1	0.67
502	Isolated elevated serum creatine phosphokinase levels	Enrichment	PKD1	0.67
503	Leigh syndrome, mitochondrial	Enrichment	MT-ATP6	0.67
504	Cleft palate, isolated	Enrichment	INPP5E	0.65
505	Dandy-walker syndrome	Enrichment	TUBA1A	0.65
506	Polycystic liver disease	Enrichment	PKD2	0.65
507	Autosomal dominant polycystic liver disease	Enrichment	PKD2	0.65
508	Leigh disease	Enrichment	ATP5PO, MT-ATP6, MT-ATP8	0.63
509	Heart, malformation of	Enrichment	DYNC2H1	0.63
510	Charcot-marie-tooth disease type 4	Enrichment	DYNC1H1	0.63
511	Acute promyelocytic leukemia	Enrichment	TBL1XR1	0.60
512	Leukodystrophy	Enrichment	ALMS1	0.59
513	Focal segmental glomerulosclerosis	Enrichment	SDCCAG8	0.59
514	Heart disease	Enrichment	CREBBP	0.57
515	Rare genetic intellectual disability	Enrichment	CREBBP	0.55
516	Congenital stationary night blindness	Enrichment	RHO	0.54
517	Wolff-parkinson-white syndrome	Enrichment	PRKAG2	0.53
518	Perrault syndrome 1	Enrichment	TWNK	0.53
519	Developmental and epileptic encephalopathy 1	Enrichment	CSNK1E	0.51
520	Sudden infant death syndrome	Enrichment	CALM2	0.50
521	Hypertelorism	Enrichment	MT-ATP6, MT-ATP8	0.50
522	Brugada syndrome	Enrichment	AKAP9	0.49
523	Myeloma, multiple	Enrichment	CREBBP, RXRA	0.46
524	Hirschsprung disease 1	Enrichment	SMO	0.45
525	Severe covid-19	Enrichment	CC2D2A	0.45
526	Differentiated thyroid carcinoma	Enrichment	PCM1	0.45
527	Stargardt disease 1	Enrichment	ALMS1	0.44
528	Peripheral nervous system disease	Enrichment	DYNC1H1	0.42
529	Neuropathy	Enrichment	DYNC1H1	0.42
530	Scoliosis	Enrichment	CREBBP	0.38
531	Fetal akinesia deformation sequence 1	Enrichment	TUBA1A	0.37
532	Epilepsy	Enrichment	TTC21B	0.35
533	Myopathy	Enrichment	DYNC1H1	0.35
534	Hereditary spastic paraplegia	Enrichment	CEP63	0.33
535	Nephrotic syndrome	Enrichment	TTC21B	0.32
536	Sensorineural hearing loss	Enrichment	CEP78	0.29
537	Thrombocytopenia	Enrichment	TUBB1	0.29
538	Familial hypertrophic cardiomyopathy	Enrichment	PRKAG2	0.29
539	Body mass index quantitative trait locus 11	Enrichment	BBIP1	0.28
540	Non-syndromic x-linked intellectual disability	Enrichment	HCFC1	0.26
541	Undetermined early-onset epileptic encephalopathy	Enrichment	YWHAG	0.25
542	Leukemia, acute myeloid	Enrichment	IDH2	0.23
543	Hypertrophic cardiomyopathy	Enrichment	PRKAG2	0.21
544	Primary ciliary dyskinesia	Enrichment	OFD1	0.17
545	Autism spectrum disorder	Enrichment	DYNC1H1, MEF2C	0.16
546	Male infertility with azoospermia or oligozoospermia due to single gene mutation	Enrichment	GLUD2	0.15
547	Autism	Enrichment	CREBBP	0.10
548	Inherited cancer-predisposing syndrome	Enrichment	PKD1	0.06

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

Organelle biogenesis and maintenance

Pathway Network for Organelle biogenesis and maintenance

Member Pathways for Organelle biogenesis and maintenance

Pathways in the Organelle biogenesis and maintenance SuperPath

Associated Genes for Organelle biogenesis and maintenance

Associated Disorders for Organelle biogenesis and maintenance

Disorders associated with Organelle biogenesis and maintenance SuperPath

STRING Interaction Network for Organelle biogenesis and maintenance

Sources for Organelle biogenesis and maintenance