Transport of connexons to the plasma membrane

Pathway network for the Transport of connexons to the plasma membrane SuperPath

Sources:

Reactome
GeneGo (Thomson Reuters)

Pathways in the Transport of connexons to the plasma membrane SuperPath

#	Name	Source	Genes
1	Transport of connexons to the plasma membrane	Reactome	GJA1 GJB2 TUBA1A TUBA1B TUBA1C TUBA3C TUBA3D TUBA3E TUBA4A TUBA4B TUBA8 TUBAL3 TUBB1 TUBB2A TUBB2B TUBB3 TUBB4A TUBB4B TUBB6 TUBB8 TUBB8B (see all 21) (see less)
2	Nuclear Envelope (NE) Reassembly	Reactome	AHCTF1 ANKLE2 BANF1 CC2D1B CCNB1 CCNB2 CDK1 CHMP2A CHMP2B CHMP3 CHMP4A CHMP4B CHMP4C CHMP6 CHMP7 EMD IST1 KPNB1 LBR LEMD2 LEMD3 LMNA LMNB1 NDC1 NUP107 NUP133 NUP155 NUP160 NUP188 NUP205 NUP35 NUP37 NUP43 NUP54 NUP58 NUP62 NUP85 NUP93 NUP98 POM121 PPP2CA PPP2R1A PPP2R2A RAN RANGAP1 RCC1 RNF103-CHMP3 SEC13 SEH1L SIRT2 SPAST SUMO1 TMPO TNPO1 TUBA1A TUBA1B TUBA1C TUBA3C TUBA3D TUBA3E TUBA4A TUBA4B TUBA8 TUBAL3 TUBB1 TUBB2A TUBB2B TUBB3 TUBB4A TUBB4B TUBB6 TUBB8 TUBB8B UBE2I VPS4A VRK1 VRK2 (see all 77) (see less)
3	Translocation of SLC2A4 (GLUT4) to the plasma membrane	Reactome	ACTB ACTG1 AKT1 AKT2 ASPSCR1 C2CD5 CALM1 CALM2 CALM3 EXOC1 EXOC2 EXOC3 EXOC4 EXOC5 EXOC6 EXOC7 EXOC8 KIF3A KIF3B KIFAP3 LNPEP MYH9 MYO1C MYO5A PRKAA2 PRKAB1 PRKAB2 PRKAG1 PRKAG2 PRKAG3 RAB10 RAB11A RAB13 RAB14 RAB4A RAB8A RAC1 RALA RALGAPA2 RALGAPB RHOQ SFN SLC2A4 SNAP23 STX4 STXBP3 TBC1D1 TBC1D4 TUBA1A TUBA1B TUBA1C TUBA3C TUBA3D TUBA3E TUBA4A TUBA4B TUBA8 TUBAL3 TUBB1 TUBB2A TUBB2B TUBB3 TUBB4A TUBB4B TUBB6 TUBB8 TUBB8B VAMP2 YWHAB YWHAE YWHAG YWHAH YWHAQ YWHAZ (see all 74) (see less)
4	Cytoskeleton remodeling Keratin filaments	GeneGo (Thomson Reuters)	ACTB ACTG1 CDK1 DSP DST EPPK1 EVPL GRB2 KRT1 KRT13 KRT14 KRT16 KRT17 KRT18 KRT19 KRT2 KRT4 KRT5 KRT6A KRT6C KRT7 KRT8 MAPK10 MAPK8 MAPK9 PKP1 PKP2 PLEC PPL TCHP TUBA1A TUBA1B TUBA1C TUBA3C TUBA3D TUBA3E TUBA4A TUBA4B TUBA8 TUBAL3 TUBB TUBB1 TUBB2A TUBB2B TUBB3 TUBB4A TUBB4B TUBB6 TUBB7P TUBB8 TUBG1 VIM YWHAG (see all 53) (see less)
5	Carboxyterminal post-translational modifications of tubulin	Reactome	AGBL1 AGBL2 AGBL3 AGBL4 AGBL5 AGTPBP1 LRRC49 NICN1 SVBP TPGS1 TPGS2 TTL TTLL1 TTLL10 TTLL11 TTLL12 TTLL2 TTLL3 TTLL4 TTLL5 TTLL6 TTLL7 TTLL9 TUBA1A TUBA1B TUBA1C TUBA3C TUBA3D TUBA3E TUBA4A TUBA4B TUBA8 TUBAL3 TUBB1 TUBB2A TUBB2B TUBB3 TUBB4A TUBB4B TUBB6 TUBB8 TUBB8B VASH1 VASH2 (see all 44) (see less)
6	RHO GTPases activate IQGAPs	Reactome	ACTB ACTG1 CALM1 CALM2 CALM3 CDC42 CLIP1 CTNNA1 CTNNB1 IQGAP1 IQGAP2 IQGAP3 MEN1 RAC1 TUBA1A TUBA1B TUBA1C TUBA3C TUBA3D TUBA3E TUBA4A TUBA4B TUBA8 TUBAL3 TUBB1 TUBB2A TUBB2B TUBB3 TUBB4A TUBB4B TUBB6 TUBB8 TUBB8B (see all 33) (see less)
7	Sealing of the nuclear envelope (NE) by ESCRT-III	Reactome	CC2D1B CHMP2A CHMP2B CHMP3 CHMP4A CHMP4B CHMP4C CHMP6 CHMP7 IST1 LEMD2 RNF103-CHMP3 SPAST TUBA1A TUBA1B TUBA1C TUBA3C TUBA3D TUBA3E TUBA4A TUBA4B TUBA8 TUBAL3 TUBB1 TUBB2A TUBB2B TUBB3 TUBB4A TUBB4B TUBB6 TUBB8 TUBB8B VPS4A (see all 33) (see less)
8	Activation of AMPK downstream of NMDARs	Reactome	CALM1 CALM2 CALM3 CAMKK2 PRKAA1 PRKAA2 PRKAB1 PRKAB2 PRKAG1 PRKAG2 PRKAG3 TUBA1A TUBA1B TUBA1C TUBA3C TUBA3D TUBA3E TUBA4A TUBA4B TUBA8 TUBAL3 TUBB1 TUBB2A TUBB2B TUBB3 TUBB4A TUBB4B TUBB6 TUBB8 TUBB8B (see all 30) (see less)
9	Post-chaperonin tubulin folding pathway	Reactome	ARL2 TBCA TBCB TBCC TBCD TBCE TUBA1A TUBA1B TUBA1C TUBA3C TUBA3D TUBA3E TUBA4A TUBA4B TUBA8 TUBAL3 TUBB1 TUBB2A TUBB2B TUBB3 TUBB4A TUBB4B TUBB6 (see all 23) (see less)
10	Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane	Reactome	GJA1 TUBA1A TUBA1B TUBA1C TUBA3C TUBA3D TUBA3E TUBA4A TUBA4B TUBA8 TUBAL3 TUBB1 TUBB2A TUBB2B TUBB3 TUBB4A TUBB4B TUBB6 TUBB8 TUBB8B (see all 20) (see less)
11	Initiation of Nuclear Envelope (NE) Reformation	Reactome	ANKLE2 BANF1 CCNB1 CCNB2 CDK1 EMD KPNB1 LBR LEMD2 LEMD3 LMNA LMNB1 PPP2CA PPP2R1A PPP2R2A SIRT2 TMPO VRK1 VRK2 (see all 19) (see less)

Gene overlap in member pathways for Transport of connexons to the plasma membrane SuperPath

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

#	Symbol	Description	Category	# Related Pathways
1	TUBA1B	Tubulin Alpha 1b	Protein Coding	10
2	TUBB3	Tubulin Beta 3 Class III	Protein Coding	10
3	TUBB4A	Tubulin Beta 4A Class IVa	Protein Coding	10
4	TUBB4B	Tubulin Beta 4B Class IVb	Protein Coding	10
5	TUBA3E	Tubulin Alpha 3e	Protein Coding	10
6	TUBA3D	Tubulin Alpha 3d	Protein Coding	10
7	TUBB2B	Tubulin Beta 2B Class IIb	Protein Coding	10
8	TUBA8	Tubulin Alpha 8	Protein Coding	10
9	TUBA4A	Tubulin Alpha 4a	Protein Coding	10
10	TUBA3C	Tubulin Alpha 3c	Protein Coding	10
11	TUBB2A	Tubulin Beta 2A Class IIa	Protein Coding	10
12	TUBA1A	Tubulin Alpha 1a	Protein Coding	10
13	TUBAL3	Tubulin Alpha Like 3	Protein Coding	10
14	TUBA4B	Tubulin Alpha 4b	Protein Coding	10
15	TUBB1	Tubulin Beta 1 Class VI	Protein Coding	10
16	TUBB6	Tubulin Beta 6 Class V	Protein Coding	10
17	TUBA1C	Tubulin Alpha 1c	Protein Coding	10
18	TUBB8	Tubulin Beta 8 Class VIII	Protein Coding	9
19	TUBB8B	Tubulin Beta 8B	Protein Coding	8
20	LEMD2	LEM Domain Nuclear Envelope Protein 2	Protein Coding	3
21	CDK1	Cyclin Dependent Kinase 1	Protein Coding	3
22	ACTB	Actin Beta	Protein Coding	3
23	ACTG1	Actin Gamma 1	Protein Coding	3
24	CALM1	Calmodulin 1	Protein Coding	3
25	CALM2	Calmodulin 2	Protein Coding	3
26	CALM3	Calmodulin 3	Protein Coding	3
27	GJA1	Gap Junction Protein Alpha 1	Protein Coding	2
28	RNF103-CHMP3	RNF103-CHMP3 Readthrough	Protein Coding	2
29	CHMP4B	Charged Multivesicular Body Protein 4B	Protein Coding	2
30	CC2D1B	Coiled-Coil And C2 Domain Containing 1B	Protein Coding	2
31	EMD	Emerin	Protein Coding	2
32	SIRT2	Sirtuin 2	Protein Coding	2
33	ANKLE2	Ankyrin Repeat And LEM Domain Containing 2	Protein Coding	2
34	LEMD3	LEM Domain Containing 3	Protein Coding	2
35	CHMP2B	Charged Multivesicular Body Protein 2B	Protein Coding	2
36	VPS4A	Vacuolar Protein Sorting 4 Homolog A	Protein Coding	2
37	CHMP2A	Charged Multivesicular Body Protein 2A	Protein Coding	2
38	CHMP4A	Charged Multivesicular Body Protein 4A	Protein Coding	2
39	KPNB1	Karyopherin Subunit Beta 1	Protein Coding	2
40	LBR	Lamin B Receptor	Protein Coding	2
41	LMNA	Lamin A/C	Protein Coding	2
42	LMNB1	Lamin B1	Protein Coding	2
43	CHMP3	Charged Multivesicular Body Protein 3	Protein Coding	2
44	PPP2CA	Protein Phosphatase 2 Catalytic Subunit Alpha	Protein Coding	2
45	PPP2R1A	Protein Phosphatase 2 Scaffold Subunit Aalpha	Protein Coding	2
46	PPP2R2A	Protein Phosphatase 2 Regulatory Subunit Balpha	Protein Coding	2
47	SPAST	Spastin	Protein Coding	2
48	TMPO	Thymopoietin	Protein Coding	2
49	VRK1	VRK Serine/Threonine Kinase 1	Protein Coding	2
50	VRK2	VRK Serine/Threonine Kinase 2	Protein Coding	2
51	CHMP6	Charged Multivesicular Body Protein 6	Protein Coding	2
52	BANF1	Barrier To Autointegration Nuclear Assembly Factor 1	Protein Coding	2
53	CCNB1	Cyclin B1	Protein Coding	2
54	CCNB2	Cyclin B2	Protein Coding	2
55	CHMP7	Charged Multivesicular Body Protein 7	Protein Coding	2
56	CHMP4C	Charged Multivesicular Body Protein 4C	Protein Coding	2
57	IST1	IST1 Factor Associated With ESCRT-III	Protein Coding	2
58	PRKAG2	Protein Kinase AMP-Activated Non-Catalytic Subunit Gamma 2	Protein Coding	2
59	PRKAG3	Protein Kinase AMP-Activated Non-Catalytic Subunit Gamma 3	Protein Coding	2
60	PRKAA2	Protein Kinase AMP-Activated Catalytic Subunit Alpha 2	Protein Coding	2
61	PRKAB1	Protein Kinase AMP-Activated Non-Catalytic Subunit Beta 1	Protein Coding	2
62	PRKAB2	Protein Kinase AMP-Activated Non-Catalytic Subunit Beta 2	Protein Coding	2
63	PRKAG1	Protein Kinase AMP-Activated Non-Catalytic Subunit Gamma 1	Protein Coding	2
64	RAC1	Rac Family Small GTPase 1	Protein Coding	2
65	YWHAG	Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Gamma	Protein Coding	2
66	GJB2	Gap Junction Protein Beta 2	Protein Coding	1
67	RCC1	Regulator Of Chromosome Condensation 1	Protein Coding	1
68	NUP35	Nucleoporin 35	Protein Coding	1
69	NUP205	Nucleoporin 205	Protein Coding	1
70	NUP160	Nucleoporin 160	Protein Coding	1
71	NUP188	Nucleoporin 188	Protein Coding	1
72	NUP62	Nucleoporin 62	Protein Coding	1
73	AHCTF1	AT-Hook Containing Transcription Factor 1	Protein Coding	1
74	NUP43	Nucleoporin 43	Protein Coding	1
75	TNPO1	Transportin 1	Protein Coding	1
76	NUP98	Nucleoporin 98 And 96 Precursor	Protein Coding	1
77	NUP54	Nucleoporin 54	Protein Coding	1
78	NDC1	NDC1 Transmembrane Nucleoporin	Protein Coding	1
79	NUP133	Nucleoporin 133	Protein Coding	1
80	NUP107	Nucleoporin 107	Protein Coding	1
81	RAN	RAN, Member RAS Oncogene Family	Protein Coding	1
82	RANGAP1	Ran GTPase Activating Protein 1	Protein Coding	1
83	SEC13	SEC13 Homolog, Nuclear Pore And COPII Component	Protein Coding	1
84	UBE2I	Ubiquitin Conjugating Enzyme E2 I	Protein Coding	1
85	SUMO1	Small Ubiquitin Like Modifier 1	Protein Coding	1
86	NUP37	Nucleoporin 37	Protein Coding	1
87	NUP85	Nucleoporin 85	Protein Coding	1
88	SEH1L	SEH1 Like Nucleoporin	Protein Coding	1
89	NUP155	Nucleoporin 155	Protein Coding	1
90	NUP93	Nucleoporin 93	Protein Coding	1
91	NUP58	Nucleoporin 58	Protein Coding	1
92	POM121	POM121 Transmembrane Nucleoporin	Protein Coding	1
93	EXOC5	Exocyst Complex Component 5	Protein Coding	1
94	RAB10	RAB10, Member RAS Oncogene Family	Protein Coding	1
95	YWHAQ	Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Theta	Protein Coding	1
96	KIF3A	Kinesin Family Member 3A	Protein Coding	1
97	EXOC3	Exocyst Complex Component 3	Protein Coding	1
98	EXOC8	Exocyst Complex Component 8	Protein Coding	1
99	AKT1	AKT Serine/Threonine Kinase 1	Protein Coding	1
100	AKT2	AKT Serine/Threonine Kinase 2	Protein Coding	1
101	KIFAP3	Kinesin Associated Protein 3	Protein Coding	1
102	TBC1D1	TBC1 Domain Family Member 1	Protein Coding	1
103	EXOC7	Exocyst Complex Component 7	Protein Coding	1
104	RHOQ	Ras Homolog Family Member Q	Protein Coding	1
105	SFN	Stratifin	Protein Coding	1
106	LNPEP	Leucyl And Cystinyl Aminopeptidase	Protein Coding	1
107	RAB8A	RAB8A, Member RAS Oncogene Family	Protein Coding	1
108	MYH9	Myosin Heavy Chain 9	Protein Coding	1
109	MYO1C	Myosin IC	Protein Coding	1
110	MYO5A	Myosin VA	Protein Coding	1
111	RAB14	RAB14, Member RAS Oncogene Family	Protein Coding	1
112	EXOC6	Exocyst Complex Component 6	Protein Coding	1
113	EXOC1	Exocyst Complex Component 1	Protein Coding	1
114	EXOC2	Exocyst Complex Component 2	Protein Coding	1
115	RALGAPB	Ral GTPase Activating Protein Non-Catalytic Subunit Beta	Protein Coding	1
116	RALGAPA2	Ral GTPase Activating Protein Catalytic Subunit Alpha 2	Protein Coding	1
117	RAB4A	RAB4A, Member RAS Oncogene Family	Protein Coding	1
118	RAB13	RAB13, Member RAS Oncogene Family	Protein Coding	1
119	RALA	RAS Like Proto-Oncogene A	Protein Coding	1
120	EXOC4	Exocyst Complex Component 4	Protein Coding	1
121	SLC2A4	Solute Carrier Family 2 Member 4	Protein Coding	1
122	STX4	Syntaxin 4	Protein Coding	1
123	STXBP3	Syntaxin Binding Protein 3	Protein Coding	1
124	VAMP2	Vesicle Associated Membrane Protein 2	Protein Coding	1
125	YWHAB	Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Beta	Protein Coding	1
126	YWHAE	Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Epsilon	Protein Coding	1
127	YWHAH	Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Eta	Protein Coding	1
128	YWHAZ	Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Zeta	Protein Coding	1
129	ASPSCR1	ASPSCR1 Tether For SLC2A4, UBX Domain Containing	Protein Coding	1
130	RAB11A	RAB11A, Member RAS Oncogene Family	Protein Coding	1
131	SNAP23	Synaptosome Associated Protein 23	Protein Coding	1
132	KIF3B	Kinesin Family Member 3B	Protein Coding	1
133	C2CD5	C2 Calcium Dependent Domain Containing 5	Protein Coding	1
134	TBC1D4	TBC1 Domain Family Member 4	Protein Coding	1
135	DST	Dystonin	Protein Coding	1
136	DSP	Desmoplakin	Protein Coding	1
137	EVPL	Envoplakin	Protein Coding	1
138	GRB2	Growth Factor Receptor Bound Protein 2	Protein Coding	1
139	KRT1	Keratin 1	Protein Coding	1
140	KRT2	Keratin 2	Protein Coding	1
141	KRT4	Keratin 4	Protein Coding	1
142	KRT5	Keratin 5	Protein Coding	1
143	KRT6A	Keratin 6A	Protein Coding	1
144	KRT7	Keratin 7	Protein Coding	1
145	KRT8	Keratin 8	Protein Coding	1
146	KRT13	Keratin 13	Protein Coding	1
147	KRT14	Keratin 14	Protein Coding	1
148	KRT16	Keratin 16	Protein Coding	1
149	KRT17	Keratin 17	Protein Coding	1
150	KRT18	Keratin 18	Protein Coding	1
151	KRT19	Keratin 19	Protein Coding	1
152	PKP1	Plakophilin 1	Protein Coding	1
153	PKP2	Plakophilin 2	Protein Coding	1
154	PLEC	Plectin	Protein Coding	1
155	PPL	Periplakin	Protein Coding	1
156	MAPK8	Mitogen-Activated Protein Kinase 8	Protein Coding	1
157	MAPK9	Mitogen-Activated Protein Kinase 9	Protein Coding	1
158	MAPK10	Mitogen-Activated Protein Kinase 10	Protein Coding	1
159	TUBG1	Tubulin Gamma 1	Protein Coding	1
160	VIM	Vimentin	Protein Coding	1
161	TUBB7P	Tubulin Beta 7 Pseudogene	Pseudogene	1
162	EPPK1	Epiplakin 1	Protein Coding	1
163	TCHP	Trichoplein Keratin Filament Binding	Protein Coding	1
164	TUBB	Tubulin Beta Class I	Protein Coding	1
165	KRT6C	Keratin 6C	Protein Coding	1
166	AGBL1	AGBL Carboxypeptidase 1	Protein Coding	1
167	TTL	Tubulin Tyrosine Ligase	Protein Coding	1
168	TTLL11	Tubulin Tyrosine Ligase Like 11	Protein Coding	1
169	TTLL9	Tubulin Tyrosine Ligase Like 9	Protein Coding	1
170	VASH1	Vasohibin 1	Protein Coding	1
171	TTLL5	Tubulin Tyrosine Ligase Like 5	Protein Coding	1
172	TTLL12	Tubulin Tyrosine Ligase Like 12	Protein Coding	1
173	AGTPBP1	ATP/GTP Binding Carboxypeptidase 1	Protein Coding	1
174	TTLL10	Tubulin Tyrosine Ligase Like 10	Protein Coding	1
175	TTLL1	TTL Family Tubulin Polyglutamylase Complex Subunit L1	Protein Coding	1
176	TPGS2	Tubulin Polyglutamylase Complex Subunit 2	Protein Coding	1
177	TTLL3	Tubulin Tyrosine Ligase Like 3	Protein Coding	1
178	TTLL6	Tubulin Tyrosine Ligase Like 6	Protein Coding	1
179	AGBL3	AGBL Carboxypeptidase 3	Protein Coding	1
180	SVBP	Small Vasohibin Binding Protein	Protein Coding	1
181	LRRC49	Leucine Rich Repeat Containing 49	Protein Coding	1
182	AGBL5	AGBL Carboxypeptidase 5	Protein Coding	1
183	TTLL7	Tubulin Tyrosine Ligase Like 7	Protein Coding	1
184	VASH2	Vasohibin 2	Protein Coding	1
185	AGBL2	AGBL Carboxypeptidase 2	Protein Coding	1
186	TTLL2	Tubulin Tyrosine Ligase Like 2	Protein Coding	1
187	NICN1	Nicolin 1, Tubulin Polyglutamylase Complex Subunit	Protein Coding	1
188	AGBL4	AGBL Carboxypeptidase 4	Protein Coding	1
189	TPGS1	Tubulin Polyglutamylase Complex Subunit 1	Protein Coding	1
190	TTLL4	Tubulin Tyrosine Ligase Like 4	Protein Coding	1
191	IQGAP2	IQ Motif Containing GTPase Activating Protein 2	Protein Coding	1
192	IQGAP3	IQ Motif Containing GTPase Activating Protein 3	Protein Coding	1
193	CTNNA1	Catenin Alpha 1	Protein Coding	1
194	CTNNB1	Catenin Beta 1	Protein Coding	1
195	MEN1	Menin 1	Protein Coding	1
196	CLIP1	CAP-Gly Domain Containing Linker Protein 1	Protein Coding	1
197	IQGAP1	IQ Motif Containing GTPase Activating Protein 1	Protein Coding	1
198	CDC42	Cell Division Cycle 42	Protein Coding	1
199	CAMKK2	Calcium/Calmodulin Dependent Protein Kinase Kinase 2	Protein Coding	1
200	PRKAA1	Protein Kinase AMP-Activated Catalytic Subunit Alpha 1	Protein Coding	1
201	TBCB	Tubulin Folding Cofactor B	Protein Coding	1
202	ARL2	ARF Like GTPase 2	Protein Coding	1
203	TBCA	Tubulin Folding Cofactor A	Protein Coding	1
204	TBCC	Tubulin Folding Cofactor C	Protein Coding	1
205	TBCD	Tubulin Folding Cofactor D	Protein Coding	1
206	TBCE	Tubulin Folding Cofactor E	Protein Coding	1

Disorders associated with Transport of connexons to the plasma membrane SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Lissencephaly	Enrichment	ACTG1, TUBA1A, TUBA3E, TUBB, TUBB2B, TUBB3, TUBG1	10.81
2	Genetic steroid-resistant nephrotic syndrome	Enrichment	NUP107, NUP133, NUP160, NUP205, NUP37, NUP85, NUP93	9.16
3	Tubulinopathy	Enrichment	RALGAPB, TUBA1A, TUBB2A, TUBB2B	9.08
4	Tubulinopathy-associated dysgyria	Enrichment	TUBA1A, TUBB2B, TUBB3	8.56
5	Congenital fibrosis of the extraocular muscles	Enrichment	TUBA1A, TUBB2B, TUBB3	7.26
6	Pachyonychia congenita 1	Enrichment	KRT16, KRT17, KRT6A	6.65
7	Catecholaminergic polymorphic ventricular tachycardia	Enrichment	CALM1, CALM2, CALM3	6.27
8	Epidermolysis bullosa simplex 2f, with mottled pigmentation	Enrichment	KRT14, KRT5, PLEC	6.25
9	Epidermolysis bullosa simplex 1a, generalized severe	Enrichment	KRT14, KRT5, PLEC	6.25
10	Epidermolysis bullosa simplex	Enrichment	KRT14, KRT5, PLEC	5.71
11	Baraitser-winter cerebrofrontofacial syndrome	Enrichment	ACTB, ACTG1	5.24
12	Emery-dreifuss muscular dystrophy 1, x-linked	Enrichment	EMD, LMNA	4.95
13	Emery-dreifuss muscular dystrophy	Enrichment	EMD, LMNA	4.95
14	Epidermolysis bullosa simplex 1d, generalized, intermediate or severe, autosomal recessive	Enrichment	KRT14, KRT5	4.82
15	White sponge nevus	Enrichment	KRT13, KRT4	4.82
16	Long qt syndrome 1	Enrichment	CALM1, CALM2, CALM3	4.42
17	Polymicrogyria, bilateral perisylvian, x-linked	Enrichment	TUBA1A, TUBB2B	4.36
18	Palmoplantar keratoderma, epidermolytic, 1	Enrichment	KRT1, KRT16	4.35
19	Keratosis palmoplantaris striata	Enrichment	DSP, KRT1	4.35
20	Cryptogenic cirrhosis	Enrichment	KRT18, KRT8	4.35
21	Cataract 6, multiple types	Enrichment	CHMP4B, LEMD2	4.24
22	Bilateral perisylvian polymicrogyria	Enrichment	TUBA1A, TUBB2B	4.13
23	Skin disease	Enrichment	KRT14, KRT17, PLEC	4.08
24	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	Enrichment	MYH9, TUBB1	4.06
25	Epidermolysis bullosa simplex 1b, generalized intermediate	Enrichment	KRT14, KRT5	4.05
26	Epidermolysis bullosa simplex generalized type	Enrichment	KRT14, KRT5	4.05
27	Autosomal dominant macrothrombocytopenia	Enrichment	TUBA8, TUBB1	4.03
28	Cerebral palsy	Enrichment	SPAST, TUBA1A, TUBB4A	3.95
29	Epidermolytic hyperkeratosis 1	Enrichment	KRT1, KRT2	3.83
30	Epidermolysis bullosa simplex 1c, localized	Enrichment	KRT14, KRT5	3.83
31	Familial infantile bilateral striatal necrosis	Enrichment	NUP54, NUP62	3.72
32	Microcephaly	Enrichment	ACTB, ACTG1, CTNNB1, TUBB4A	3.67
33	Inherited arrhythmogenic cardiomyopathy	Enrichment	DSP, PKP2	3.65
34	Neuromuscular disease	Enrichment	EMD, LMNA	3.55
35	Neuropathy, hereditary motor and sensory, okinawa type	Enrichment	EMD, LMNA	3.50
36	Arrhythmogenic right ventricular dysplasia, familial, 9	Enrichment	DSP, PKP2	3.28
37	Familial isolated arrhythmogenic right ventricular dysplasia	Enrichment	DSP, PKP2	3.28
38	Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant	Enrichment	DSP, PKP2	3.02
39	Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant	Enrichment	DSP, PKP2	3.02
40	Multiple sclerosis	Enrichment	DST, PLEC	2.88
41	Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant	Enrichment	DSP, PKP2	2.88
42	Galloway-mowat syndrome	Enrichment	NUP107, NUP133	2.86
43	Leukodystrophy, demyelinating, adult-onset, autosomal dominant, typical	Enrichment	LMNB1	2.85
44	Buschke-ollendorff syndrome	Enrichment	LEMD3	2.85
45	Teeth, supernumerary	Enrichment	LEMD2	2.85
46	Greenberg dysplasia	Enrichment	LBR	2.85
47	Pelger-huet anomaly	Enrichment	LBR	2.85
48	Microcephaly 16, primary, autosomal recessive	Enrichment	ANKLE2	2.85
49	Rhizomelic skeletal dysplasia with or without pelger-huet anomaly	Enrichment	LBR	2.85
50	Marbach-rustad progeroid syndrome	Enrichment	LEMD2	2.85
51	Adult onset demyelinating leukodystrophy	Enrichment	LMNB1	2.85
52	Houge-janssens syndrome 2	Enrichment	PPP2R1A	2.85
53	Nestor-guillermo progeria syndrome	Enrichment	BANF1	2.85
54	Microcephaly 26, primary, autosomal dominant	Enrichment	LMNB1	2.85
55	Reynolds syndrome	Enrichment	LBR	2.85
56	Atypical werner syndrome	Enrichment	LMNA	2.85
57	Neuronopathy, distal hereditary motor, autosomal recessive 10	Enrichment	VRK1	2.85
58	Melorheostosis with osteopoikilosis	Enrichment	LEMD3	2.85
59	Mandibuloacral dysplasia	Enrichment	LMNA	2.85
60	Atrioventricular block	Enrichment	LMNA	2.85
61	Lmna-related cardiocutaneous progeria syndrome	Enrichment	LMNA	2.85
62	Isolated osteopoikilosis	Enrichment	LEMD3	2.85
63	Ppp2r1a-related neurodevelopmental disorder	Enrichment	PPP2R1A	2.85
64	Autosomal semi-dominant severe lipodystrophic laminopathy	Enrichment	LMNA	2.85
65	Microcephaly-complex motor and sensory axonal neuropathy syndrome	Enrichment	VRK1	2.85
66	Autosomal recessive axonal hereditary motor and sensory neuropathy	Enrichment	LMNA	2.85
67	Laminopathy	Enrichment	LMNA	2.85
68	Palmoplantar keratoderma and congenital alopecia 1	Enrichment	GJA1	2.83
69	Hypoplastic left heart syndrome 1	Enrichment	GJA1	2.83
70	Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement	Enrichment	TUBB3	2.83
71	Oculodentodigital dysplasia	Enrichment	GJA1	2.83
72	Macrothrombocytopenia, isolated, 1, autosomal dominant	Enrichment	TUBB1	2.83
73	Craniometaphyseal dysplasia, autosomal recessive	Enrichment	GJA1	2.83
74	Leber congenital amaurosis with early-onset deafness	Enrichment	TUBB4B	2.83
75	Oocyte/zygote/embryo maturation arrest 24	Enrichment	TUBA1C	2.83
76	Oculodentodigital dysplasia, autosomal recessive	Enrichment	GJA1	2.83
77	Cortical dysplasia, complex, with other brain malformations 7	Enrichment	TUBB2B	2.83
78	Oocyte/zygote/embryo maturation arrest 23	Enrichment	TUBA4A	2.83
79	Frontotemporal dementia and/or amyotrophic lateral sclerosis 9	Enrichment	TUBA4A	2.83
80	Erythrokeratodermia variabilis et progressiva 3	Enrichment	GJA1	2.83
81	Facial palsy, congenital, with ptosis and velopharyngeal dysfunction	Enrichment	TUBB6	2.83
82	Macrothrombocytopenia, isolated, 2, autosomal dominant	Enrichment	TUBA8	2.83
83	Lissencephaly due to tuba1a mutation	Enrichment	TUBA1A	2.83
84	Congenital myopathy 26	Enrichment	TUBA4A	2.83
85	Spastic ataxia 11, autosomal dominant	Enrichment	TUBA4A	2.83
86	Amyotrophic lateral sclerosis type 22	Enrichment	TUBA4A	2.83
87	Polymicrogyria with optic nerve hypoplasia	Enrichment	TUBA8	2.83
88	Type 2 diabetes mellitus	Enrichment	AKT2, SLC2A4, TBC1D4	2.81
89	Bart-pumphrey syndrome	Enrichment	GJB2	2.81
90	Vohwinkel syndrome	Enrichment	GJB2	2.81
91	Deafness, autosomal dominant 3a	Enrichment	GJB2	2.81
92	Keratitis-ichthyosis-deafness syndrome, autosomal dominant	Enrichment	GJB2	2.81
93	Ichthyosis, hystrix-like, with deafness	Enrichment	GJB2	2.81
94	Porokeratotic eccrine ostial and dermal duct nevus	Enrichment	GJB2	2.81
95	Autosomal dominant nonsyndromic hearing loss 3a	Enrichment	GJB2	2.81
96	Hypoparathyroidism-retardation-dysmorphism syndrome	Enrichment	TBCE	2.77
97	Kenny-caffey syndrome, type 1	Enrichment	TBCE	2.77
98	Encephalopathy, progressive, with amyotrophy and optic atrophy	Enrichment	TBCE	2.77
99	Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome	Enrichment	TBCE	2.77
100	Arrhythmogenic right ventricular cardiomyopathy	Enrichment	DSP, PKP2	2.76
101	Long qt syndrome	Enrichment	CALM1, CALM2	2.68
102	Congenital nervous system abnormality	Enrichment	CTNNB1, TUBA1A, TUBB4A	2.67
103	Nervous system disease	Enrichment	CTNNB1, TUBA1A, TUBB4A	2.67
104	Cardiomyopathy, familial hypertrophic, 6	Enrichment	PRKAG2	2.66
105	Glycogen storage disease of heart, lethal congenital	Enrichment	PRKAG2	2.66
106	Long qt syndrome 16	Enrichment	CALM3	2.66
107	Skeletal muscle glycogen content and metabolism quantitative trait locus	Enrichment	PRKAG3	2.66
108	Long qt syndrome 15	Enrichment	CALM2	2.66
109	Baraitser-winter syndrome 1	Enrichment	ACTB	2.61
110	Macular dystrophy, patterned, 2	Enrichment	CTNNA1	2.61
111	Congenital smooth muscle hamartoma, with or without hemihypertrophy	Enrichment	ACTB	2.61
112	Adrenal cortical adenoma	Enrichment	MEN1	2.61
113	Becker nevus syndrome	Enrichment	ACTB	2.61
114	Dystonia-deafness syndrome 1	Enrichment	ACTB	2.61
115	Takenouchi-kosaki syndrome	Enrichment	CDC42	2.61
116	Thrombocytopenia 8, with dysmorphic features and developmental delay	Enrichment	ACTB	2.61
117	Adenoid ameloblastoma	Enrichment	CTNNB1	2.61
118	Baraitser-winter syndrome	Enrichment	ACTB	2.61
119	Adrenal adenoma	Enrichment	MEN1	2.61
120	Congenital smooth muscle hamartoma	Enrichment	ACTB	2.61
121	Nocarh syndrome	Enrichment	CDC42	2.61
122	Developmental malformations-deafness-dystonia syndrome	Enrichment	ACTB	2.61
123	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom	Enrichment	RAC1	2.61
124	Microcystic stromal tumor	Enrichment	CTNNB1	2.61
125	Cataract 31, multiple types	Enrichment	CHMP4B	2.61
126	Familial isolated dilated cardiomyopathy	Enrichment	LMNA, TMPO	2.61
127	Cataract 46, juvenile-onset, with or without arrhythmic cardiomyopathy	Enrichment	LEMD2	2.55
128	Mandibuloacral dysplasia with type a lipodystrophy	Enrichment	LMNA	2.55
129	Myopathy, x-linked, with postural muscle atrophy	Enrichment	EMD	2.55
130	Heart-hand syndrome, slovenian type	Enrichment	LMNA	2.55
131	Pontocerebellar hypoplasia, type 1a	Enrichment	VRK1	2.55
132	Charcot-marie-tooth disease, axonal, type 2b1	Enrichment	LMNA	2.55
133	Cardiomyopathy, dilated, with hypergonadotropic hypogonadism	Enrichment	LMNA	2.55
134	Cardiomyopathy, dilated, 1d	Enrichment	LMNA	2.55
135	Restrictive dermopathy 2	Enrichment	LMNA	2.55
136	Emery-dreifuss muscular dystrophy 3, autosomal recessive	Enrichment	LMNA	2.55
137	Cataract 46 juvenile-onset	Enrichment	LEMD2	2.55
138	Lipodystrophy, familial partial, type 1	Enrichment	LMNA	2.55
139	Osteopoikilosis	Enrichment	LEMD3	2.55
140	Autosomal dominant primary microcephaly	Enrichment	LMNB1	2.55
141	Congenital pontocerebellar hypoplasia type 1	Enrichment	VRK1	2.55
142	Houge-janssens syndrome 3	Enrichment	PPP2CA	2.55
143	Familial partial lipodystrophy	Enrichment	LMNA	2.55
144	12q14 microdeletion syndrome	Enrichment	LEMD3	2.55
145	Charcot-marie-tooth disease type 2b1	Enrichment	LMNA	2.55
146	X-linked emery-dreifuss muscular dystrophy	Enrichment	EMD	2.55
147	Rare autosomal dominant non-syndromic sensorineural deafness type dfna	Enrichment	ACTG1, MYH9, MYO1C	2.55
148	Dystonia 4, torsion, autosomal dominant	Enrichment	TUBB4A	2.53
149	Hallermann-streiff syndrome	Enrichment	GJA1	2.53
150	Muscular dystrophy, limb-girdle, autosomal recessive 3	Enrichment	TUBA1A	2.53
151	Syndactyly, type iii	Enrichment	GJA1	2.53
152	Syndactyly, type v	Enrichment	GJA1	2.53
153	Keratoconus 9	Enrichment	TUBA3D	2.53
154	Autosomal recessive limb-girdle muscular dystrophy type 2d	Enrichment	TUBA1A	2.53
155	Craniometaphyseal dysplasia	Enrichment	GJA1	2.53
156	Lissencephaly 3	Enrichment	TUBA1A	2.53
157	Cortical dysplasia, complex, with other brain malformations 1	Enrichment	TUBB3	2.53
158	Torsion dystonia 4	Enrichment	TUBB4A	2.53
159	Continuous spikes and waves during sleep	Enrichment	TUBA1A	2.53
160	Deafness, autosomal recessive 104	Enrichment	GJB2	2.51
161	Deafness, autosomal recessive 1b	Enrichment	GJB2	2.51
162	Keratitis ichthyosis and deafness syndrome	Enrichment	GJB2	2.51
163	Hereditary palmoplantar keratoderma	Enrichment	GJB2	2.51
164	Corneal dystrophy, fuchs endothelial, 8	Enrichment	AGBL1	2.49
165	Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly	Enrichment	SVBP	2.49
166	Motor peripheral neuropathy	Enrichment	AGTPBP1	2.49
167	Cone-rod dystrophy 19	Enrichment	TTLL5	2.49
168	Retinitis pigmentosa 75	Enrichment	AGBL5	2.49
169	Isolated congenital microcephaly	Enrichment	RAB11A, TUBA3E	2.47
170	Muscular dystrophy-dystroglycanopathy , type a, 11	Enrichment	TBCE	2.47
171	Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum	Enrichment	TBCD	2.47
172	Seborrhea-like dermatitis with psoriasiform elements	Enrichment	TBCD	2.47
173	Congenital muscular dystrophy-dystroglycanopathy type a11	Enrichment	TBCE	2.47
174	Ichthyosis hystrix, curth-macklin type	Enrichment	KRT1	2.41
175	Dermatopathia pigmentosa reticularis	Enrichment	KRT14	2.41
176	Skin creases, congenital symmetric circumferential, 1	Enrichment	TUBB	2.41
177	Pachyonychia congenita 2	Enrichment	KRT17	2.41
178	Palmoplantar keratoderma, nonepidermolytic	Enrichment	KRT1	2.41
179	Ectodermal dysplasia/skin fragility syndrome	Enrichment	PKP1	2.41
180	Ichthyosis bullosa of siemens	Enrichment	KRT2	2.41
181	Naegeli-franceschetti-jadassohn syndrome	Enrichment	KRT14	2.41
182	Cortical dysplasia, complex, with other brain malformations 6	Enrichment	TUBB	2.41
183	Pachyonychia congenita 3	Enrichment	KRT6A	2.41
184	Steatocystoma multiplex	Enrichment	KRT17	2.41
185	White sponge nevus 1	Enrichment	KRT4	2.41
186	Ichthyosis, annular epidermolytic, 2	Enrichment	KRT1	2.41
187	Palmoplantar keratoderma, nonepidermolytic, focal or diffuse	Enrichment	KRT6C	2.41
188	Keratosis palmoplantaris striata iii	Enrichment	KRT1	2.41
189	White sponge nevus 2	Enrichment	KRT13	2.41
190	Developmental and epileptic encephalopathy 56	Enrichment	YWHAG	2.41
191	Skin fragility-woolly hair-palmoplantar keratoderma syndrome	Enrichment	DSP	2.41
192	Palmoplantar keratoderma, epidermolytic, 2	Enrichment	KRT1	2.41
193	Focal palmoplantar keratoderma	Enrichment	KRT6C	2.41
194	Qualitative or quantitative defects of plectin	Enrichment	PLEC	2.41
195	Premature aging	Enrichment	VIM	2.41
196	Restrictive dermopathy 1	Enrichment	LMNA	2.38
197	Lipodystrophy, familial partial, type 2	Enrichment	LMNA	2.38
198	Muscular dystrophy, congenital, lmna-related	Enrichment	LMNA	2.38
199	Pontocerebellar hypoplasia, type 1b	Enrichment	VRK1	2.38
200	Restrictive dermopathy	Enrichment	LMNA	2.38
201	Leukodystrophy, hypomyelinating, 6	Enrichment	TUBB4A	2.35
202	Oocyte/zygote/embryo maturation arrest 2	Enrichment	TUBB8	2.35
203	Cortical dysplasia, complex, with other brain malformations 5	Enrichment	TUBB2A	2.35
204	Ventricular tachycardia, catecholaminergic polymorphic, 4	Enrichment	CALM1	2.35
205	Long qt syndrome 14	Enrichment	CALM1	2.35
206	Keratoderma, palmoplantar, with deafness	Enrichment	GJB2	2.33
207	Ifap syndrome 1, with or without bresheck syndrome	Enrichment	GJB2	2.33
208	Deafness, x-linked 2	Enrichment	GJB2	2.33
209	X-linked mixed hearing loss with perilymphatic gusher	Enrichment	GJB2	2.33
210	Osteopathia striata with cranial sclerosis	Enrichment	CTNNB1	2.31
211	Hyperparathyroidism 1	Enrichment	MEN1	2.31
212	Deafness, autosomal dominant 20	Enrichment	ACTG1	2.31
213	Baraitser-winter syndrome 2	Enrichment	ACTG1	2.31
214	Intellectual developmental disorder, autosomal dominant 48	Enrichment	RAC1	2.31
215	Childhood hepatocellular carcinoma	Enrichment	CTNNB1	2.31
216	Medullary thyroid carcinoma	Enrichment	MEN1	2.31
217	Immune system disease	Enrichment	CDC42	2.31
218	Insulinoma	Enrichment	MEN1	2.31
219	Juvenile nasopharyngeal angiofibroma	Enrichment	CTNNB1	2.31
220	Teratoma	Enrichment	CTNNB1	2.31
221	Null pituitary adenoma	Enrichment	MEN1	2.31
222	Silent pituitary adenoma	Enrichment	MEN1	2.31
223	Gigantism	Enrichment	MEN1	2.31
224	Cimdag syndrome	Enrichment	VPS4A	2.31
225	Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1	Enrichment	ARL2	2.29
226	Proteus syndrome	Enrichment	AKT1	2.26
227	Hypoinsulinemic hypoglycemia with hemihypertrophy	Enrichment	AKT2	2.26
228	Deafness, autosomal dominant 17	Enrichment	MYH9	2.26
229	Type 2 diabetes 5	Enrichment	TBC1D4	2.26
230	Griscelli syndrome, type 1	Enrichment	MYO5A	2.26
231	Elejalde neuroectodermal melanolysosomal syndrome	Enrichment	MYO5A	2.26
232	Hiatt-neu-cooper neurodevelopmental syndrome	Enrichment	RALA	2.26
233	Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements	Enrichment	VAMP2	2.26
234	Deafness, autosomal recessive 123	Enrichment	STX4	2.26
235	Cowden syndrome 6	Enrichment	AKT1	2.26
236	Retinitis pigmentosa 89	Enrichment	KIF3B	2.26
237	Neurodevelopmental disorder with seizures and brain atrophy	Enrichment	EXOC7	2.26
238	Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy	Enrichment	EXOC8	2.26
239	Autosomal dominant nonsyndromic hearing loss 17	Enrichment	MYH9	2.26
240	Distal 17p13.3 microdeletion syndrome	Enrichment	YWHAE	2.26
241	Akt2-related familial partial lipodystrophy	Enrichment	AKT2	2.26
242	Dilated cardiomyopathy	Enrichment	EMD, LMNA	2.26
243	Hutchinson-gilford progeria syndrome	Enrichment	LMNA	2.25
244	Microtia-anotia	Enrichment	LMNA	2.25
245	Charcot-marie-tooth hereditary neuropathy	Enrichment	VRK1	2.25
246	Sick sinus syndrome	Enrichment	LMNA	2.25
247	Neurodevelopmental disorder with achalasia, polyneuropathy, and alacrima	Enrichment	NDC1	2.25
248	Atrial fibrillation, familial, 15	Enrichment	NUP155	2.25
249	Dystonia 37, early-onset, with striatal lesions	Enrichment	NUP54	2.25
250	Nephrotic syndrome, type 19	Enrichment	NUP160	2.25
251	Orofacial cleft 10	Enrichment	SUMO1	2.25
252	Galloway-mowat syndrome 8	Enrichment	NUP133	2.25
253	Nephrotic syndrome, type 13	Enrichment	NUP205	2.25
254	Microcephaly 24, primary, autosomal recessive	Enrichment	NUP37	2.25
255	Galloway-mowat syndrome 7	Enrichment	NUP107	2.25
256	Nephrotic syndrome, type 12	Enrichment	NUP93	2.25
257	Nephrotic syndrome, type 11	Enrichment	NUP107	2.25
258	Sandestig-stefanova syndrome	Enrichment	NUP188	2.25
259	Ovarian dysgenesis 6	Enrichment	NUP107	2.25
260	Nephrotic syndrome, type 18	Enrichment	NUP133	2.25
261	Infection-induced acute-onset axonal neuropathy	Enrichment	RCC1	2.25
262	Deafness, autosomal recessive 1a	Enrichment	GJB2	2.21
263	Gjb2-related autosomal recessive nonsyndromic hearing loss	Enrichment	GJB2	2.21
264	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures	Enrichment	AGTPBP1	2.19
265	Glycine encephalopathy 2	Enrichment	NICN1	2.19
266	Neurodegeneration, childhood-onset, with cerebellar atrophy	Enrichment	AGTPBP1	2.19
267	Autosomal recessive limb-girdle muscular dystrophy type 2b	Enrichment	LMNA	2.16
268	Spinal muscular atrophy	Enrichment	VRK1	2.16
269	Histiocytoid hemangioma	Enrichment	LMNA	2.16
270	Desmoid disease, hereditary	Enrichment	CTNNB1	2.14
271	Neurodevelopmental disorder with spastic diplegia and visual defects	Enrichment	CTNNB1	2.14
272	Pituitary adenoma 1, multiple types	Enrichment	MEN1	2.14
273	Anus, imperforate	Enrichment	CTNNB1	2.14
274	Exudative vitreoretinopathy 7	Enrichment	CTNNB1	2.14
275	Desmoid tumor	Enrichment	CTNNB1	2.14
276	Cellular ependymoma	Enrichment	MEN1	2.14
277	Tanycytic ependymoma	Enrichment	MEN1	2.14
278	Papillary ependymoma	Enrichment	MEN1	2.14
279	Parathyroid adenoma	Enrichment	MEN1	2.14
280	Growth hormone secreting pituitary adenoma	Enrichment	MEN1	2.14
281	Aip familial isolated pituitary adenomas	Enrichment	MEN1	2.14
282	Butterfly-shaped pigment dystrophy	Enrichment	CTNNA1	2.14
283	Familial isolated hyperparathyroidism	Enrichment	MEN1	2.14
284	Clear cell ependymoma	Enrichment	MEN1	2.14
285	Spastic paraplegia 2, x-linked	Enrichment	SPAST	2.14
286	Cleft upper lip	Enrichment	GJA1	2.13
287	Female infertility due to oocyte meiotic arrest	Enrichment	TUBB8	2.13
288	Epidermolysis bullosa simplex 5a, ogna type	Enrichment	PLEC	2.11
289	Epidermolysis bullosa simplex 5b, with muscular dystrophy	Enrichment	PLEC	2.11
290	Arrhythmogenic right ventricular dysplasia, familial, 8	Enrichment	DSP	2.11
291	Keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy	Enrichment	KRT1	2.11
292	Epidermolysis bullosa simplex 2e, with migratory circinate erythema	Enrichment	KRT5	2.11
293	Muscular dystrophy, limb-girdle, autosomal recessive 17	Enrichment	PLEC	2.11
294	Keratosis palmoplantaris striata ii	Enrichment	DSP	2.11
295	Palmoplantar keratoderma, nonepidermolytic, focal 1	Enrichment	KRT16	2.11
296	Cortical dysplasia, complex, with other brain malformations 4	Enrichment	TUBG1	2.11
297	Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis	Enrichment	DSP	2.11
298	Epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive	Enrichment	KRT5	2.11
299	Sjogren-larsson syndrome	Enrichment	KRT14	2.11
300	Autosomal recessive limb-girdle muscular dystrophy type 2q	Enrichment	PLEC	2.11
301	Progressive familial heart block	Enrichment	DSP	2.11
302	Cataract 30	Enrichment	VIM	2.11
303	Cardiomyopathy, dilated, with woolly hair and keratoderma	Enrichment	DSP	2.11
304	Epidermolysis bullosa simplex 2a, generalized severe	Enrichment	KRT5	2.11
305	Multiple benign circumferential skin creases on limbs	Enrichment	TUBB	2.11
306	Hereditary breast ovarian cancer syndrome	Enrichment	CTNNA1, MEN1	2.10
307	Left ventricular noncompaction	Enrichment	DSP, PKP2	2.09
308	Rare autosomal recessive non-syndromic sensorineural deafness type dfnb	Enrichment	GJA1, GJB2	2.08
309	Emery-dreifuss muscular dystrophy 2, autosomal dominant	Enrichment	LMNA	2.08
310	Pontocerebellar hypoplasia, type 1e	Enrichment	VRK1	2.08
311	Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1	Enrichment	TUBB2B	2.05
312	Early myoclonic encephalopathy	Enrichment	TUBA1A	2.05
313	Deafness, autosomal recessive 12	Enrichment	GJB2	2.03
314	Diffuse gastric and lobular breast cancer syndrome	Enrichment	CTNNA1	2.01
315	Polyposis syndrome, hereditary mixed, 1	Enrichment	CTNNA1	2.01
316	Pilomatrixoma	Enrichment	CTNNB1	2.01
317	Aminoacylase 1 deficiency	Enrichment	ACTB	2.01
318	Alazami syndrome	Enrichment	CTNNB1	2.01
319	Craniopharyngioma	Enrichment	CTNNB1	2.01
320	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	Enrichment	CDC42	2.01
321	Prolactinoma	Enrichment	MEN1	2.01
322	Primary hyperparathyroidism	Enrichment	MEN1	2.01
323	Benign ependymoma	Enrichment	MEN1	2.01
324	Pseudomyogenic hemangioendothelioma	Enrichment	ACTB	2.01
325	Bethlem myopathy 1a	Enrichment	LMNA	2.01
326	Cataract 35	Enrichment	MYH9	1.96
327	Alveolar soft part sarcoma	Enrichment	ASPSCR1	1.96
328	Griscelli syndrome, type 3	Enrichment	MYO5A	1.96
329	Pseudosarcomatous fibromatosis	Enrichment	MYH9	1.96
330	Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia	Enrichment	EXOC2	1.96
331	Congenital muscular dystrophy	Enrichment	LMNA	1.95
332	Myocarditis	Enrichment	LMNA	1.95
333	Striatonigral degeneration, infantile	Enrichment	NUP62	1.95
334	Nephronophthisis-like nephropathy 1	Enrichment	RANGAP1	1.95
335	Nephrotic syndrome, type 17	Enrichment	NUP85	1.95
336	Nail disorder, nonsyndromic congenital, 4	Enrichment	KRT17	1.93
337	Peeling skin syndrome 4	Enrichment	KRT2	1.93
338	Ichthyosis with confetti	Enrichment	KRT1	1.93
339	Epidermolysis bullosa, lethal acantholytic	Enrichment	DSP	1.93
340	Ichthyosis, annular epidermolytic, 1	Enrichment	KRT1	1.93
341	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with bp230 deficiency	Enrichment	DST	1.93
342	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige	Enrichment	DSP	1.93
343	Woolly hair-skin fragility syndrome	Enrichment	DSP	1.93
344	Epidermolysis bullosa simplex 2b, generalized intermediate	Enrichment	KRT5	1.93
345	Epidermolysis bullosa simplex 5d, generalized intermediate, autosomal recessive	Enrichment	PLEC	1.93
346	Epidermolysis bullosa simplex 2c, localized	Enrichment	KRT5	1.93
347	Annular epidermolytic ichthyosis	Enrichment	KRT1	1.93
348	Autosomal dominant epidermolytic ichthyosis	Enrichment	KRT1	1.93
349	Erythrokeratodermia variabilis et progressiva 1	Enrichment	GJA1	1.93
350	Cryptorchidism	Enrichment	TUBA1A	1.93
351	Hypoplastic left heart syndrome	Enrichment	GJA1	1.93
352	Exudative vitreoretinopathy 1	Enrichment	CTNNB1	1.92
353	Coloboma of choroid and retina	Enrichment	ACTG1	1.92
354	Spastic diplegia	Enrichment	SPAST	1.92
355	Leukoencephalopathy with vanishing white matter	Enrichment	ANKLE2	1.90
356	Juvenile amyotrophic lateral sclerosis	Enrichment	VRK1	1.90
357	Cryptorchidism, unilateral or bilateral	Enrichment	TUBA1A	1.88
358	Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy	Enrichment	CALM1	1.88
359	Difference of sex development	Enrichment	TBCE	1.87
360	Primary autosomal recessive microcephaly	Enrichment	ANKLE2, NUP37	1.85
361	Weyers acrofacial dysostosis	Enrichment	CTNNB1	1.84
362	Adrenocortical carcinoma	Enrichment	CTNNB1	1.84
363	Dowling-degos disease 1	Enrichment	KRT5	1.81
364	Epidermolysis bullosa simplex 5c, with pyloric atresia	Enrichment	PLEC	1.81
365	Neuropathy, hereditary sensory and autonomic, type vi	Enrichment	DST	1.81
366	Dowling-degos disease	Enrichment	KRT5	1.81
367	Epidermolytic hyperkeratosis	Enrichment	KRT1	1.81
368	Choroidal dystrophy, central areolar, 1	Enrichment	TTLL5	1.79
369	Fuchs' endothelial dystrophy	Enrichment	AGBL1	1.79
370	Miller-dieker lissencephaly syndrome	Enrichment	YWHAE	1.79
371	Chromosome 17p13.3, centromeric, duplication syndrome	Enrichment	YWHAE	1.79
372	Cardiac conduction defect	Enrichment	LMNA	1.78
373	Muscular dystrophy, limb-girdle, autosomal recessive 2	Enrichment	LMNA	1.78
374	Multiple endocrine neoplasia, type i	Enrichment	MEN1	1.77
375	Gastrointestinal stromal tumor	Enrichment	MEN1	1.77
376	Gallbladder cancer	Enrichment	CTNNB1	1.77
377	Semantic dementia	Enrichment	CHMP2B	1.77
378	Congenital hypothyroidism	Enrichment	TUBB1	1.76
379	Catecholaminergic polymorphic ventricular tachycardia 1	Enrichment	CALM1	1.76
380	Colorectal cancer	Enrichment	CTNNA1, CTNNB1	1.72
381	Exudative vitreoretinopathy	Enrichment	CTNNB1	1.71
382	Spastic paraplegia 4, autosomal dominant	Enrichment	SPAST	1.71
383	Early-onset posterior polar cataract	Enrichment	CHMP4B	1.71
384	Glycine encephalopathy	Enrichment	NICN1	1.71
385	Arrhythmogenic right ventricular dysplasia, familial, 1	Enrichment	PKP2	1.71
386	Chromosome 15q11.2 deletion syndrome	Enrichment	TUBG1	1.71
387	Cardiac arrest	Enrichment	DSP	1.71
388	Epidermolysis bullosa	Enrichment	KRT5	1.71
389	Arrhythmogenic right ventricular dysplasia 1	Enrichment	PKP2	1.71
390	Aplasia cutis congenita	Enrichment	PLEC	1.71
391	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	Enrichment	RAC1	1.66
392	Adult hepatocellular carcinoma	Enrichment	CTNNB1	1.66
393	Progressive non-fluent aphasia	Enrichment	CHMP2B	1.66
394	Behavioral variant of frontotemporal dementia	Enrichment	CHMP2B	1.66
395	Corpus callosum, agenesis of	Enrichment	TUBA1A	1.66
396	Isolated corpus callosum agenesis	Enrichment	TUBA1A	1.66
397	Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome	Enrichment	TUBA1A	1.66
398	Epidermolysis bullosa, junctional 5b, with pyloric atresia	Enrichment	PLEC	1.63
399	Cardiomyopathy, dilated, 1e	Enrichment	LMNA	1.63
400	Cataract 44	Enrichment	LEMD2	1.63
401	Cat eye syndrome	Enrichment	ACTG1	1.62
402	Dandy-walker syndrome	Enrichment	TUBA1A	1.61
403	Pontocerebellar hypoplasia	Enrichment	VRK1	1.60
404	Glycine encephalopathy 1	Enrichment	NICN1	1.59
405	Arteriovenous malformations of the brain	Enrichment	LEMD3	1.58
406	Diabetes mellitus	Enrichment	MEN1	1.58
407	Deafness, autosomal recessive 63	Enrichment	MYH9	1.57
408	Endometrial stromal sarcoma	Enrichment	YWHAE	1.57
409	Thrombocytopenia	Enrichment	MYH9, TUBB1	1.55
410	Cardiomyopathy, dilated, 1a	Enrichment	LMNA	1.54
411	Autosomal dominant non-syndromic intellectual disability	Enrichment	RAB11A, YWHAZ	1.52
412	Lennox-gastaut syndrome	Enrichment	MAPK10	1.51
413	Hemangioma, capillary infantile	Enrichment	MYH9	1.49
414	Breast adenocarcinoma	Enrichment	AKT1	1.49
415	Kidney clear cell sarcoma	Enrichment	YWHAE	1.49
416	Cardiomyopathy, familial hypertrophic, 1	Enrichment	LMNA	1.48
417	Muscular dystrophy	Enrichment	LMNA	1.48
418	Medulloblastoma	Enrichment	CTNNB1	1.47
419	Jeune thoracic dystrophy	Enrichment	LBR	1.46
420	Wolff-parkinson-white syndrome	Enrichment	PRKAG2	1.46
421	Noonan syndrome 1	Enrichment	GJB2	1.46
422	Brugada syndrome	Enrichment	LMNA	1.45
423	Ear malformation	Enrichment	GJB2	1.44
424	Sudden infant death syndrome	Enrichment	CALM2	1.43
425	Renal cell carcinoma with mit translocations	Enrichment	ASPSCR1	1.43
426	Auditory neuropathy	Enrichment	TUBB4A	1.42
427	Hypertension	Enrichment	MEN1	1.42
428	Cataract 30, multiple types	Enrichment	VIM	1.42
429	Asphyxiating thoracic dystrophy	Enrichment	LBR	1.41
430	Polycystic liver disease	Enrichment	CTNNB1	1.39
431	Autosomal dominant polycystic liver disease	Enrichment	CTNNB1	1.39
432	Inherited cancer-predisposing syndrome	Enrichment	CTNNA1, MEN1	1.39
433	Specific learning disability	Enrichment	YWHAG	1.38
434	Peripheral nervous system disease	Enrichment	LMNA	1.36
435	Neuropathy	Enrichment	LMNA	1.36
436	Short-rib thoracic dysplasia 1 with or without polydactyly	Enrichment	LBR	1.34
437	Craniosynostosis	Enrichment	CTNNA1	1.32
438	Cowden syndrome	Enrichment	AKT1	1.32
439	Aortic valve disease 1	Enrichment	DSP	1.30
440	Hepatoblastoma	Enrichment	CTNNB1	1.30
441	Hepatocellular carcinoma	Enrichment	CTNNB1	1.28
442	Fetal akinesia deformation sequence 1	Enrichment	TUBA1A	1.27
443	Non-syndromic genetic deafness	Enrichment	GJB2	1.27
444	Myopathy	Enrichment	EMD	1.26
445	Charcot-marie-tooth disease	Enrichment	LMNA	1.25
446	Hydrocephalus, congenital, 1	Enrichment	TUBB	1.22
447	Optic atrophy plus syndrome	Enrichment	TUBB6	1.20
448	West syndrome	Enrichment	TUBA1A	1.20
449	Nonsyndromic hearing loss	Enrichment	GJB2	1.20
450	Septooptic dysplasia	Enrichment	RALGAPB	1.20
451	Meningioma	Enrichment	AKT1	1.20
452	Interstitial lung disease 2	Enrichment	DSP	1.19
453	46 xx gonadal dysgenesis	Enrichment	NUP107	1.18
454	Bladder cancer	Enrichment	CTNNB1	1.17
455	Rare genetic deafness	Enrichment	ACTG1, MYH9	1.16
456	Familial hypertrophic cardiomyopathy	Enrichment	PRKAG2	1.15
457	Sensorineural hearing loss	Enrichment	GJB2	1.14
458	Spastic ataxia	Enrichment	TUBB3	1.12
459	Seckel syndrome	Enrichment	NUP85	1.12
460	Cakut	Enrichment	ACTG1	1.10
461	Cardiomyopathy, dilated, 1g	Enrichment	DSP	1.08
462	Hypertrophic cardiomyopathy	Enrichment	PRKAG2	1.04
463	Deafness, autosomal recessive	Enrichment	GJB2	1.03
464	Autosomal recessive nonsyndromic deafness	Enrichment	GJB2	1.02
465	Hereditary spastic paraplegia	Enrichment	SPAST	1.01
466	Focal segmental glomerulosclerosis	Enrichment	NUP93	0.97
467	Tooth agenesis	Enrichment	SUMO1	0.93
468	Familial atrial fibrillation	Enrichment	NUP155	0.89
469	Leber plus disease	Enrichment	TUBB4B	0.88
470	Autosomal recessive non-syndromic intellectual disability	Enrichment	CLIP1	0.88
471	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	Enrichment	CHMP2B	0.88
472	Meckel syndrome, type 1	Enrichment	EXOC4	0.83
473	Retinitis pigmentosa	Enrichment	AGBL5, TTLL5	0.82
474	Hirschsprung disease 1	Enrichment	NUP98	0.82
475	Autism spectrum disorder	Enrichment	GJB2	0.81
476	Complex neurodevelopmental disorder	Enrichment	PPP2CA	0.80
477	Dystonia	Enrichment	MYO5A	0.76
478	Undetermined early-onset epileptic encephalopathy	Enrichment	YWHAG	0.71
479	Cone-rod dystrophy 2	Enrichment	TTLL5	0.70
480	Hereditary breast carcinoma	Enrichment	AKT1	0.67
481	Nephrotic syndrome	Enrichment	NUP93	0.66
482	Ovarian cancer	Enrichment	CTNNB1	0.66
483	Body mass index quantitative trait locus 11	Enrichment	MYH9	0.62
484	Hereditary retinal dystrophy	Enrichment	AGBL5, TTLL5	0.62
485	Fundus dystrophy	Enrichment	AGBL5, TTLL5	0.62
486	Breast cancer	Enrichment	AKT1	0.47

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

Transport of connexons to the plasma membrane

Pathway Network for Transport of connexons to the plasma membrane

Pathway network for the Transport of connexons to the plasma membrane SuperPath

Member Pathways for Transport of connexons to the plasma membrane

Pathways in the Transport of connexons to the plasma membrane SuperPath

Gene overlap in member pathways for Transport of connexons to the plasma membrane SuperPath

Associated Genes for Transport of connexons to the plasma membrane

Associated Disorders for Transport of connexons to the plasma membrane

Disorders associated with Transport of connexons to the plasma membrane SuperPath

STRING Interaction Network for Transport of connexons to the plasma membrane

Sources for Transport of connexons to the plasma membrane