Sertoli-Sertoli Cell Junction Dynamics

Pathway network for the Sertoli-Sertoli Cell Junction Dynamics SuperPath

Sources:

QIAGEN

Pathways in the Sertoli-Sertoli Cell Junction Dynamics SuperPath

#	Name	Source	Genes
1	Sertoli-Sertoli Cell Junction Dynamics	QIAGEN	A2M ACTA1 ACTA2 ACTB ACTG1 ACTG2 ACTN1 ACTN2 ACTN3 ACTN4 ADCY10 AFDN AKT1 AKT2 AKT3 ARAF AXIN1 BCAR1 BRAF CDC42 CDH1 CFL1 CFL2 CGN CLDN1 CLDN10 CLDN11 CLDN12 CLDN14 CLDN15 CLDN16 CLDN17 CLDN18 CLDN19 CLDN2 CLDN20 CLDN23 CLDN3 CLDN4 CLDN5 CLDN6 CLDN7 CLDN8 CLDN9 CTNNA1 CTNNA2 CTNNA3 CTNNB1 CTNND1 EPB41 EPN1 EPN2 EPN3 F11R GSK3A GSK3B GUCY1A1 GUCY1A2 GUCY1B1 GUCY2C GUCY2D GUCY2EP GUCY2F HRAS ILK ITGA1 ITGA10 ITGA11 ITGA2 ITGA2B ITGA3 ITGA4 ITGA5 ITGA6 ITGA7 ITGA8 ITGA9 ITGAD ITGAE ITGAL ITGAM ITGAV ITGAX ITGB1 ITGB2 ITGB3 ITGB4 ITGB5 ITGB6 ITGB7 ITGB8 JAM2 JAM3 JUP KEAP1 KRAS MAGI3 MAP2K1 MAP2K2 MAP2K3 MAP2K4 MAP2K5 MAP2K6 MAP2K7 MAP3K2 MAP3K20 MAP3K3 MAP3K4 MAP3K5 MAPK1 MAPK10 MAPK11 MAPK12 MAPK13 MAPK14 MAPK3 MAPK8 MAPK9 MRAS MTMR2 MYO7A NECTIN1 NECTIN2 NECTIN3 NECTIN4 NOS1 NOS2 NOS2P1 NOS2P2 NOS3 NPR1 NPR2 NRAS OCLN PALS2 PLPP3 PLS1 PRKACA PRKACB PRKACG PRKAR1A PRKAR1B PRKAR2A PRKAR2B PRKG1 PRKG2 PTEN RAB8B RAC1 RAC2 RAC3 RAF1 RRAS RRAS2 SORBS1 SPTA1 SPTAN1 SPTB SPTBN1 SPTBN2 SPTBN4 SPTBN5 SRC SYMPK TGFB3 TGFBR3 TJAP1 TJP1 TJP2 TJP3 TNF TNFRSF1A TUBA3C TUBA4A TUBA8 TUBB1 TUBB2A TUBB2B TUBB3 TUBB6 TUBB7P TUBD1 TUBE1 TUBG1 TUBG2 VCL WAS YBX3 (see all 188) (see less)
2	Epithelial Tight Junctions	QIAGEN	ACTA1 ACTA2 ACTB ACTG1 ACTG2 ACTN1 ACTN2 ACTN3 ACTN4 ACTR2 ACTR3 AFDN AKT1 AKT2 AKT3 ARHGEF2 ATF1 ATF2 ATF4 ATF5 ATF6 ATF7 BCAR1 CASK CDC42 CDK4 CEBPA CGN CLDN1 CLDN10 CLDN11 CLDN12 CLDN14 CLDN15 CLDN16 CLDN17 CLDN18 CLDN19 CLDN2 CLDN20 CLDN23 CLDN3 CLDN4 CLDN5 CLDN6 CLDN7 CLDN8 CLDN9 CLEC18C CRB1 CRB3 CSTF1 CSTF2 CSTF2T CSTF3 CTNNA1 CTNNA2 CTNNA3 CTNNB1 CTTN EPB41 EXOC1 EXOC2 EXOC3 EXOC4 EXOC5 EXOC6 EXOC7 EXOC8 F11R FOS FOSB FOSL1 FOSL2 GNA12 GOSR1 GOSR2 GSK3A GSK3B HRAS HSF1 ILK ITGA1 ITGA10 ITGA11 ITGA2 ITGA2B ITGA3 ITGA4 ITGA5 ITGA6 ITGA7 ITGA8 ITGA9 ITGAD ITGAE ITGAL ITGAM ITGAV ITGAX ITGB1 ITGB2 ITGB3 ITGB4 ITGB5 ITGB6 ITGB7 ITGB8 JAM2 JAM3 JUN JUNB JUND KRAS LEFTY2 LLGL1 LLGL2 MAGI1 MAGI3 MAP3K20 MAPK10 MAPK8 MAPK9 MARK2 MPDZ MRAS MYH1 MYH10 MYH11 MYH13 MYH14 MYH15 MYH2 MYH3 MYH4 MYH6 MYH7 MYH7B MYH8 MYH9 MYL1 MYL11 MYL2 MYL3 MYL4 MYL5 MYL6 MYL7 MYL9 MYO10 MYO15A MYO18B MYO1A MYO1B MYO1C MYO1D MYO1E MYO1F MYO1G MYO3A MYO3B MYO5A MYO5C MYO6 MYO7A MYO9A MYO9B NRAS OCLN PALS1 PALS2 PARD3 PARD6A PATJ PLPP3 PPP2CA PPP2CB PPP2R1A PPP2R1B PPP2R2A PPP2R2B PPP2R2C PPP2R3A PPP2R3B PPP2R5A PPP2R5B PPP2R5C PPP2R5E PRKACA PRKACB PRKACG PRKAR1A PRKAR1B PRKAR2A PRKAR2B PRKCI PRKCZ PTEN PTPA RAB10 RAB11A RAB11B RAB13 RAB14 RAB15 RAB17 RAB18 RAB1A RAB1B RAB20 RAB21 RAB22A RAB23 RAB24 RAB25 RAB26 RAB27A RAB27B RAB28 RAB2A RAB2B RAB30 RAB31 RAB32 RAB33A RAB33B RAB34 RAB3A RAB3B RAB3C RAB3D RAB4A RAB4B RAB5A RAB5B RAB5C RAB6A RAB6B RAB6C RAB7A RAB8A RAB8B RAB9A RAB9B RAC1 RHOA RRAS RRAS2 SAFB SEC22B SMURF1 SNAP23 SNAP25 SPTA1 SPTAN1 SPTB SPTBN1 SPTBN2 SPTBN4 SPTBN5 STX1A STX1B STX2 STX3 STX4 STX5 SYMPK TGFB1 TGFB2 TGFB3 TGFBR1 TGFBR2 TGFBR3 TIAM1 TJAP1 TJP1 TJP2 TJP3 TNF TNFRSF1A TUBA3C TUBA4A TUBA8 TUBB1 TUBB2A TUBB2B TUBB3 TUBB6 TUBB7P TUBD1 TUBE1 TUBG1 TUBG2 VAMP1 VAMP2 VAMP3 VAPA VASP VCL YBX3 (see all 300) (see less)
3	Germ Cell-Sertoli Cell Junction Dynamics	QIAGEN	A2M ACTA1 ACTA2 ACTB ACTG1 ACTG2 ACTN1 ACTN2 ACTN3 ACTN4 AFDN AKT1 AXIN1 BCAR1 CDC42 CDH1 CDH2 CTNNA1 CTNNA2 CTNNA3 CTNNB1 CTNND1 DIRAS3 EPN1 EPN2 EPN3 FER GSN HRAS ILK IQGAP1 ITGB1 JUP KEAP1 KRAS LAMC3 LEFTY2 LIMK1 LIMK2 MAP2K1 MAP2K2 MAP2K3 MAP2K4 MAP2K5 MAP2K6 MAP2K7 MAP3K2 MAP3K3 MAP3K4 MAP3K5 MAPK1 MAPK10 MAPK11 MAPK12 MAPK13 MAPK14 MAPK3 MAPK6 MAPK8 MAPK9 MRAS MTMR2 MYO7A NECTIN2 NECTIN3 NRAS PAK1 PAK2 PAK3 PAK4 PAK5 PAK6 PDPK1 PIK3R1 PIK3R2 PIK3R3 PIK3R4 PIK3R5 PLPP3 PLS1 PTK2 PTK2B PXN RAB8B RAC1 RAC2 RAC3 RHOA RHOB RHOC RHOD RHOG RHOH RHOJ RHOQ RND2 RND3 RRAS RRAS2 SORBS1 SRC TGFB1 TGFB2 TGFB3 TGFBR1 TGFBR2 TJP1 TNF TNFRSF1A TUBA3C TUBA4A TUBA8 TUBB1 TUBB2A TUBB2B TUBB3 TUBB6 TUBB7P TUBD1 TUBE1 TUBG1 TUBG2 VCL WAS ZYX (see all 125) (see less)

Gene overlap in member pathways for Sertoli-Sertoli Cell Junction Dynamics SuperPath

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

#	Symbol	Description	Category	# Related Pathways
1	ACTA1	Actin Alpha 1, Skeletal Muscle	Protein Coding	3
2	ACTA2	Actin Alpha 2, Smooth Muscle	Protein Coding	3
3	ACTB	Actin Beta	Protein Coding	3
4	ACTG1	Actin Gamma 1	Protein Coding	3
5	ACTG2	Actin Gamma 2, Smooth Muscle	Protein Coding	3
6	ACTN1	Actinin Alpha 1	Protein Coding	3
7	ACTN2	Actinin Alpha 2	Protein Coding	3
8	ACTN3	Actinin Alpha 3	Protein Coding	3
9	ACTN4	Actinin Alpha 4	Protein Coding	3
10	AKT1	AKT Serine/Threonine Kinase 1	Protein Coding	3
11	BCAR1	BCAR1 Scaffold Protein, Cas Family Member	Protein Coding	3
12	CDC42	Cell Division Cycle 42	Protein Coding	3
13	CTNNA1	Catenin Alpha 1	Protein Coding	3
14	CTNNA2	Catenin Alpha 2	Protein Coding	3
15	CTNNA3	Catenin Alpha 3	Protein Coding	3
16	CTNNB1	Catenin Beta 1	Protein Coding	3
17	HRAS	HRas Proto-Oncogene, GTPase	Protein Coding	3
18	ILK	Integrin Linked Kinase	Protein Coding	3
19	ITGB1	Integrin Subunit Beta 1	Protein Coding	3
20	KRAS	KRAS Proto-Oncogene, GTPase	Protein Coding	3
21	MAPK10	Mitogen-Activated Protein Kinase 10	Protein Coding	3
22	MAPK8	Mitogen-Activated Protein Kinase 8	Protein Coding	3
23	MAPK9	Mitogen-Activated Protein Kinase 9	Protein Coding	3
24	TUBB6	Tubulin Beta 6 Class V	Protein Coding	3
25	TUBB2B	Tubulin Beta 2B Class IIb	Protein Coding	3
26	AFDN	Afadin, Adherens Junction Formation Factor	Protein Coding	3
27	MRAS	Muscle RAS Oncogene Homolog	Protein Coding	3
28	MYO7A	Myosin VIIA	Protein Coding	3
29	NRAS	NRAS Proto-Oncogene, GTPase	Protein Coding	3
30	PLPP3	Phospholipid Phosphatase 3	Protein Coding	3
31	RAB8B	RAB8B, Member RAS Oncogene Family	Protein Coding	3
32	RAC1	Rac Family Small GTPase 1	Protein Coding	3
33	RRAS	RAS Related	Protein Coding	3
34	RRAS2	RAS Related 2	Protein Coding	3
35	TGFB3	Transforming Growth Factor Beta 3	Protein Coding	3
36	TJP1	Tight Junction Protein 1	Protein Coding	3
37	TNF	Tumor Necrosis Factor	Protein Coding	3
38	TNFRSF1A	TNF Receptor Superfamily Member 1A	Protein Coding	3
39	TUBA4A	Tubulin Alpha 4a	Protein Coding	3
40	TUBA3C	Tubulin Alpha 3c	Protein Coding	3
41	TUBA8	Tubulin Alpha 8	Protein Coding	3
42	TUBB1	Tubulin Beta 1 Class VI	Protein Coding	3
43	TUBB2A	Tubulin Beta 2A Class IIa	Protein Coding	3
44	TUBB3	Tubulin Beta 3 Class III	Protein Coding	3
45	TUBB7P	Tubulin Beta 7 Pseudogene	Pseudogene	3
46	TUBD1	Tubulin Delta 1	Protein Coding	3
47	TUBE1	Tubulin Epsilon 1	Protein Coding	3
48	TUBG1	Tubulin Gamma 1	Protein Coding	3
49	TUBG2	Tubulin Gamma 2	Protein Coding	3
50	VCL	Vinculin	Protein Coding	3
51	A2M	Alpha-2-Macroglobulin	Protein Coding	2
52	AKT2	AKT Serine/Threonine Kinase 2	Protein Coding	2
53	AKT3	AKT Serine/Threonine Kinase 3	Protein Coding	2
54	AXIN1	Axin 1	Protein Coding	2
55	CDH1	Cadherin 1	Protein Coding	2
56	CGN	Cingulin	Protein Coding	2
57	CLDN1	Claudin 1	Protein Coding	2
58	CLDN10	Claudin 10	Protein Coding	2
59	CLDN11	Claudin 11	Protein Coding	2
60	CLDN12	Claudin 12	Protein Coding	2
61	CLDN14	Claudin 14	Protein Coding	2
62	CLDN15	Claudin 15	Protein Coding	2
63	CLDN16	Claudin 16	Protein Coding	2
64	CLDN17	Claudin 17	Protein Coding	2
65	CLDN18	Claudin 18	Protein Coding	2
66	CLDN19	Claudin 19	Protein Coding	2
67	CLDN2	Claudin 2	Protein Coding	2
68	CLDN20	Claudin 20	Protein Coding	2
69	CLDN23	Claudin 23	Protein Coding	2
70	CLDN3	Claudin 3	Protein Coding	2
71	CLDN4	Claudin 4	Protein Coding	2
72	CLDN5	Claudin 5	Protein Coding	2
73	CLDN6	Claudin 6	Protein Coding	2
74	CLDN7	Claudin 7	Protein Coding	2
75	CLDN8	Claudin 8	Protein Coding	2
76	CLDN9	Claudin 9	Protein Coding	2
77	YBX3	Y-Box Binding Protein 3	Protein Coding	2
78	CTNND1	Catenin Delta 1	Protein Coding	2
79	EPB41	Erythrocyte Membrane Protein Band 4.1	Protein Coding	2
80	EPN1	Epsin 1	Protein Coding	2
81	EPN2	Epsin 2	Protein Coding	2
82	EPN3	Epsin 3	Protein Coding	2
83	F11R	F11 Receptor	Protein Coding	2
84	GSK3A	Glycogen Synthase Kinase 3 Alpha	Protein Coding	2
85	GSK3B	Glycogen Synthase Kinase 3 Beta	Protein Coding	2
86	ITGA1	Integrin Subunit Alpha 1	Protein Coding	2
87	ITGA10	Integrin Subunit Alpha 10	Protein Coding	2
88	ITGA11	Integrin Subunit Alpha 11	Protein Coding	2
89	ITGA2	Integrin Subunit Alpha 2	Protein Coding	2
90	ITGA2B	Integrin Subunit Alpha 2b	Protein Coding	2
91	ITGA3	Integrin Subunit Alpha 3	Protein Coding	2
92	ITGA4	Integrin Subunit Alpha 4	Protein Coding	2
93	ITGA5	Integrin Subunit Alpha 5	Protein Coding	2
94	ITGA6	Integrin Subunit Alpha 6	Protein Coding	2
95	ITGA7	Integrin Subunit Alpha 7	Protein Coding	2
96	ITGA8	Integrin Subunit Alpha 8	Protein Coding	2
97	ITGA9	Integrin Subunit Alpha 9	Protein Coding	2
98	ITGAD	Integrin Subunit Alpha D	Protein Coding	2
99	ITGAE	Integrin Subunit Alpha E	Protein Coding	2
100	ITGAL	Integrin Subunit Alpha L	Protein Coding	2
101	ITGAM	Integrin Subunit Alpha M	Protein Coding	2
102	ITGAV	Integrin Subunit Alpha V	Protein Coding	2
103	ITGAX	Integrin Subunit Alpha X	Protein Coding	2
104	ITGB2	Integrin Subunit Beta 2	Protein Coding	2
105	ITGB3	Integrin Subunit Beta 3	Protein Coding	2
106	ITGB4	Integrin Subunit Beta 4	Protein Coding	2
107	ITGB5	Integrin Subunit Beta 5	Protein Coding	2
108	ITGB6	Integrin Subunit Beta 6	Protein Coding	2
109	ITGB7	Integrin Subunit Beta 7	Protein Coding	2
110	ITGB8	Integrin Subunit Beta 8	Protein Coding	2
111	JAM2	Junctional Adhesion Molecule 2	Protein Coding	2
112	JAM3	Junctional Adhesion Molecule 3	Protein Coding	2
113	JUP	Junction Plakoglobin	Protein Coding	2
114	KEAP1	Kelch Like ECH Associated Protein 1	Protein Coding	2
115	MAGI3	Membrane Associated Guanylate Kinase, WW And PDZ Domain Containing 3	Protein Coding	2
116	MAP2K1	Mitogen-Activated Protein Kinase Kinase 1	Protein Coding	2
117	MAP2K2	Mitogen-Activated Protein Kinase Kinase 2	Protein Coding	2
118	MAP2K3	Mitogen-Activated Protein Kinase Kinase 3	Protein Coding	2
119	MAP2K4	Mitogen-Activated Protein Kinase Kinase 4	Protein Coding	2
120	MAP2K5	Mitogen-Activated Protein Kinase Kinase 5	Protein Coding	2
121	MAP2K6	Mitogen-Activated Protein Kinase Kinase 6	Protein Coding	2
122	MAP2K7	Mitogen-Activated Protein Kinase Kinase 7	Protein Coding	2
123	MAP3K2	Mitogen-Activated Protein Kinase Kinase Kinase 2	Protein Coding	2
124	MAP3K3	Mitogen-Activated Protein Kinase Kinase Kinase 3	Protein Coding	2
125	MAP3K4	Mitogen-Activated Protein Kinase Kinase Kinase 4	Protein Coding	2
126	MAP3K5	Mitogen-Activated Protein Kinase Kinase Kinase 5	Protein Coding	2
127	MAPK1	Mitogen-Activated Protein Kinase 1	Protein Coding	2
128	MAPK11	Mitogen-Activated Protein Kinase 11	Protein Coding	2
129	MAPK12	Mitogen-Activated Protein Kinase 12	Protein Coding	2
130	MAPK13	Mitogen-Activated Protein Kinase 13	Protein Coding	2
131	MAPK14	Mitogen-Activated Protein Kinase 14	Protein Coding	2
132	MAPK3	Mitogen-Activated Protein Kinase 3	Protein Coding	2
133	PALS2	Protein Associated With LIN7 2, MAGUK P55 Family Member	Protein Coding	2
134	MTMR2	Myotubularin Related Protein 2	Protein Coding	2
135	OCLN	Occludin	Protein Coding	2
136	PLS1	Plastin 1	Protein Coding	2
137	PRKACA	Protein Kinase CAMP-Activated Catalytic Subunit Alpha	Protein Coding	2
138	PRKACB	Protein Kinase CAMP-Activated Catalytic Subunit Beta	Protein Coding	2
139	PRKACG	Protein Kinase CAMP-Activated Catalytic Subunit Gamma	Protein Coding	2
140	PRKAR1A	Protein Kinase CAMP-Dependent Type I Regulatory Subunit Alpha	Protein Coding	2
141	PRKAR1B	Protein Kinase CAMP-Dependent Type I Regulatory Subunit Beta	Protein Coding	2
142	PRKAR2A	Protein Kinase CAMP-Dependent Type II Regulatory Subunit Alpha	Protein Coding	2
143	PRKAR2B	Protein Kinase CAMP-Dependent Type II Regulatory Subunit Beta	Protein Coding	2
144	PTEN	Phosphatase And Tensin Homolog	Protein Coding	2
145	NECTIN2	Nectin Cell Adhesion Molecule 2	Protein Coding	2
146	NECTIN3	Nectin Cell Adhesion Molecule 3	Protein Coding	2
147	RAC2	Rac Family Small GTPase 2	Protein Coding	2
148	RAC3	Rac Family Small GTPase 3	Protein Coding	2
149	SORBS1	Sorbin And SH3 Domain Containing 1	Protein Coding	2
150	SPTA1	Spectrin Alpha, Erythrocytic 1	Protein Coding	2
151	SPTAN1	Spectrin Alpha, Non-Erythrocytic 1	Protein Coding	2
152	SPTB	Spectrin Beta, Erythrocytic	Protein Coding	2
153	SPTBN1	Spectrin Beta, Non-Erythrocytic 1	Protein Coding	2
154	SPTBN2	Spectrin Beta, Non-Erythrocytic 2	Protein Coding	2
155	SPTBN4	Spectrin Beta, Non-Erythrocytic 4	Protein Coding	2
156	SPTBN5	Spectrin Beta, Non-Erythrocytic 5	Protein Coding	2
157	SRC	SRC Proto-Oncogene, Non-Receptor Tyrosine Kinase	Protein Coding	2
158	SYMPK	Symplekin Scaffold Protein	Protein Coding	2
159	TGFBR3	Transforming Growth Factor Beta Receptor 3	Protein Coding	2
160	TJP2	Tight Junction Protein 2	Protein Coding	2
161	TJP3	Tight Junction Protein 3	Protein Coding	2
162	TJAP1	Tight Junction Associated Protein 1	Protein Coding	2
163	WAS	WASP Actin Nucleation Promoting Factor	Protein Coding	2
164	MAP3K20	Mitogen-Activated Protein Kinase Kinase Kinase 20	Protein Coding	2
165	RHOA	Ras Homolog Family Member A	Protein Coding	2
166	LEFTY2	Left-Right Determination Factor 2	Protein Coding	2
167	TGFB1	Transforming Growth Factor Beta 1	Protein Coding	2
168	TGFB2	Transforming Growth Factor Beta 2	Protein Coding	2
169	TGFBR1	Transforming Growth Factor Beta Receptor 1	Protein Coding	2
170	TGFBR2	Transforming Growth Factor Beta Receptor 2	Protein Coding	2
171	ARAF	A-Raf Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	1
172	BRAF	B-Raf Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	1
173	CFL1	Cofilin 1	Protein Coding	1
174	CFL2	Cofilin 2	Protein Coding	1
175	GUCY1A2	Guanylate Cyclase 1 Soluble Subunit Alpha 2	Protein Coding	1
176	GUCY1A1	Guanylate Cyclase 1 Soluble Subunit Alpha 1	Protein Coding	1
177	GUCY1B1	Guanylate Cyclase 1 Soluble Subunit Beta 1	Protein Coding	1
178	GUCY2C	Guanylate Cyclase 2C	Protein Coding	1
179	GUCY2D	Guanylate Cyclase 2D, Retinal	Protein Coding	1
180	GUCY2EP	Guanylate Cyclase 2E, Pseudogene	Pseudogene	1
181	GUCY2F	Guanylate Cyclase 2F, Retinal	Protein Coding	1
182	NOS1	Nitric Oxide Synthase 1	Protein Coding	1
183	NOS2	Nitric Oxide Synthase 2	Protein Coding	1
184	NOS2P1	Nitric Oxide Synthase 2 Pseudogene 1	Pseudogene	1
185	NOS2P2	Nitric Oxide Synthase 2 Pseudogene 2	Pseudogene	1
186	NOS3	Nitric Oxide Synthase 3	Protein Coding	1
187	NPR1	Natriuretic Peptide Receptor 1	Protein Coding	1
188	NPR2	Natriuretic Peptide Receptor 2	Protein Coding	1
189	PRKG1	Protein Kinase CGMP-Dependent 1	Protein Coding	1
190	PRKG2	Protein Kinase CGMP-Dependent 2	Protein Coding	1
191	NECTIN1	Nectin Cell Adhesion Molecule 1	Protein Coding	1
192	NECTIN4	Nectin Cell Adhesion Molecule 4	Protein Coding	1
193	RAF1	Raf-1 Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	1
194	ADCY10	Adenylate Cyclase 10	Protein Coding	1
195	ACTR2	Actin Related Protein 2	Protein Coding	1
196	ACTR3	Actin Related Protein 3	Protein Coding	1
197	ARHGEF2	Rho/Rac Guanine Nucleotide Exchange Factor 2	Protein Coding	1
198	ATF1	Activating Transcription Factor 1	Protein Coding	1
199	ATF2	Activating Transcription Factor 2	Protein Coding	1
200	ATF4	Activating Transcription Factor 4	Protein Coding	1
201	ATF5	Activating Transcription Factor 5	Protein Coding	1
202	ATF6	Activating Transcription Factor 6	Protein Coding	1
203	ATF7	Activating Transcription Factor 7	Protein Coding	1
204	MAGI1	Membrane Associated Guanylate Kinase, WW And PDZ Domain Containing 1	Protein Coding	1
205	CASK	Calcium/Calmodulin Dependent Serine Protein Kinase	Protein Coding	1
206	CDK4	Cyclin Dependent Kinase 4	Protein Coding	1
207	CEBPA	CCAAT Enhancer Binding Protein Alpha	Protein Coding	1
208	CRB1	Crumbs Cell Polarity Complex Component 1	Protein Coding	1
209	CRB3	Crumbs Cell Polarity Complex Component 3	Protein Coding	1
210	CSTF1	Cleavage Stimulation Factor Subunit 1	Protein Coding	1
211	CSTF2	Cleavage Stimulation Factor Subunit 2	Protein Coding	1
212	CSTF2T	Cleavage Stimulation Factor Subunit 2 Tau Variant	Protein Coding	1
213	CSTF3	Cleavage Stimulation Factor Subunit 3	Protein Coding	1
214	CTTN	Cortactin	Protein Coding	1
215	STX2	Syntaxin 2	Protein Coding	1
216	EXOC7	Exocyst Complex Component 7	Protein Coding	1
217	EXOC8	Exocyst Complex Component 8	Protein Coding	1
218	FOS	Fos Proto-Oncogene, AP-1 Transcription Factor Subunit	Protein Coding	1
219	FOSB	FosB Proto-Oncogene, AP-1 Transcription Factor Subunit	Protein Coding	1
220	FOSL1	FOS Like 1, AP-1 Transcription Factor Subunit	Protein Coding	1
221	FOSL2	FOS Like 2, AP-1 Transcription Factor Subunit	Protein Coding	1
222	GNA12	G Protein Subunit Alpha 12	Protein Coding	1
223	GOSR1	Golgi SNAP Receptor Complex Member 1	Protein Coding	1
224	GOSR2	Golgi SNAP Receptor Complex Member 2	Protein Coding	1
225	HSF1	Heat Shock Transcription Factor 1	Protein Coding	1
226	MYL11	Myosin Light Chain 11	Protein Coding	1
227	PATJ	PATJ Crumbs Cell Polarity Complex Component	Protein Coding	1
228	JUN	Jun Proto-Oncogene, AP-1 Transcription Factor Subunit	Protein Coding	1
229	JUNB	JunB Proto-Oncogene, AP-1 Transcription Factor Subunit	Protein Coding	1
230	JUND	JunD Proto-Oncogene, AP-1 Transcription Factor Subunit	Protein Coding	1
231	MYH15	Myosin Heavy Chain 15	Protein Coding	1
232	LLGL1	LLGL Scribble Cell Polarity Complex Component 1	Protein Coding	1
233	LLGL2	LLGL Scribble Cell Polarity Complex Component 2	Protein Coding	1
234	MARK2	Microtubule Affinity Regulating Kinase 2	Protein Coding	1
235	MPDZ	Multiple PDZ Domain Crumbs Cell Polarity Complex Component	Protein Coding	1
236	PALS1	Protein Associated With LIN7 1, MAGUK P55 Family Member	Protein Coding	1
237	CLEC18C	C-Type Lectin Domain Family 18 Member C	Protein Coding	1
238	MYH1	Myosin Heavy Chain 1	Protein Coding	1
239	MYH10	Myosin Heavy Chain 10	Protein Coding	1
240	MYH11	Myosin Heavy Chain 11	Protein Coding	1
241	MYH13	Myosin Heavy Chain 13	Protein Coding	1
242	MYH14	Myosin Heavy Chain 14	Protein Coding	1
243	MYH2	Myosin Heavy Chain 2	Protein Coding	1
244	MYH3	Myosin Heavy Chain 3	Protein Coding	1
245	MYH4	Myosin Heavy Chain 4	Protein Coding	1
246	MYH6	Myosin Heavy Chain 6	Protein Coding	1
247	MYH7	Myosin Heavy Chain 7	Protein Coding	1
248	MYH7B	Myosin Heavy Chain 7B	Protein Coding	1
249	MYH8	Myosin Heavy Chain 8	Protein Coding	1
250	MYH9	Myosin Heavy Chain 9	Protein Coding	1
251	MYL1	Myosin Light Chain 1	Protein Coding	1
252	MYL2	Myosin Light Chain 2	Protein Coding	1
253	MYL3	Myosin Light Chain 3	Protein Coding	1
254	MYL4	Myosin Light Chain 4	Protein Coding	1
255	MYL5	Myosin Light Chain 5	Protein Coding	1
256	MYL6	Myosin Light Chain 6	Protein Coding	1
257	MYL7	Myosin Light Chain 7	Protein Coding	1
258	MYL9	Myosin Light Chain 9	Protein Coding	1
259	MYO10	Myosin X	Protein Coding	1
260	MYO15A	Myosin XVA	Protein Coding	1
261	MYO18B	Myosin XVIIIB	Protein Coding	1
262	MYO1A	Myosin IA	Protein Coding	1
263	MYO1B	Myosin IB	Protein Coding	1
264	MYO1C	Myosin IC	Protein Coding	1
265	MYO1D	Myosin ID	Protein Coding	1
266	MYO1E	Myosin IE	Protein Coding	1
267	MYO1F	Myosin IF	Protein Coding	1
268	MYO1G	Myosin IG	Protein Coding	1
269	MYO3A	Myosin IIIA	Protein Coding	1
270	MYO3B	Myosin IIIB	Protein Coding	1
271	MYO5A	Myosin VA	Protein Coding	1
272	MYO5C	Myosin VC	Protein Coding	1
273	MYO6	Myosin VI	Protein Coding	1
274	MYO9A	Myosin IXA	Protein Coding	1
275	MYO9B	Myosin IXB	Protein Coding	1
276	PARD3	Par-3 Family Cell Polarity Regulator	Protein Coding	1
277	PARD6A	Par-6 Family Cell Polarity Regulator Alpha	Protein Coding	1
278	PPP2CA	Protein Phosphatase 2 Catalytic Subunit Alpha	Protein Coding	1
279	PPP2CB	Protein Phosphatase 2 Catalytic Subunit Beta	Protein Coding	1
280	PPP2R1A	Protein Phosphatase 2 Scaffold Subunit Aalpha	Protein Coding	1
281	PPP2R1B	Protein Phosphatase 2 Scaffold Subunit Abeta	Protein Coding	1
282	PPP2R2A	Protein Phosphatase 2 Regulatory Subunit Balpha	Protein Coding	1
283	PPP2R2B	Protein Phosphatase 2 Regulatory Subunit Bbeta	Protein Coding	1
284	PPP2R2C	Protein Phosphatase 2 Regulatory Subunit Bgamma	Protein Coding	1
285	PPP2R3A	Protein Phosphatase 2 Regulatory Subunit B''''Alpha	Protein Coding	1
286	PTPA	Protein Phosphatase 2 Phosphatase Activator	Protein Coding	1
287	PPP2R5A	Protein Phosphatase 2 Regulatory Subunit B''Alpha	Protein Coding	1
288	PPP2R5B	Protein Phosphatase 2 Regulatory Subunit B''Beta	Protein Coding	1
289	PPP2R5C	Protein Phosphatase 2 Regulatory Subunit B''Gamma	Protein Coding	1
290	PPP2R5E	Protein Phosphatase 2 Regulatory Subunit B''Epsilon	Protein Coding	1
291	PPP2R3B	Protein Phosphatase 2 Regulatory Subunit B''''Beta~Name Same As:- HGNC:9310	Protein Coding	1
292	PRKCI	Protein Kinase C Iota	Protein Coding	1
293	PRKCZ	Protein Kinase C Zeta	Protein Coding	1
294	RAB10	RAB10, Member RAS Oncogene Family	Protein Coding	1
295	RAB11A	RAB11A, Member RAS Oncogene Family	Protein Coding	1
296	RAB11B	RAB11B, Member RAS Oncogene Family	Protein Coding	1
297	RAB13	RAB13, Member RAS Oncogene Family	Protein Coding	1
298	RAB14	RAB14, Member RAS Oncogene Family	Protein Coding	1
299	RAB15	RAB15, Member RAS Oncogene Family	Protein Coding	1
300	RAB17	RAB17, Member RAS Oncogene Family	Protein Coding	1
301	RAB18	RAB18, Member RAS Oncogene Family	Protein Coding	1
302	RAB1A	RAB1A, Member RAS Oncogene Family	Protein Coding	1
303	RAB1B	RAB1B, Member RAS Oncogene Family	Protein Coding	1
304	RAB2A	RAB2A, Member RAS Oncogene Family	Protein Coding	1
305	RAB20	RAB20, Member RAS Oncogene Family	Protein Coding	1
306	RAB21	RAB21, Member RAS Oncogene Family	Protein Coding	1
307	RAB22A	RAB22A, Member RAS Oncogene Family	Protein Coding	1
308	RAB23	RAB23, Member RAS Oncogene Family	Protein Coding	1
309	RAB24	RAB24, Member RAS Oncogene Family	Protein Coding	1
310	RAB25	RAB25, Member RAS Oncogene Family	Protein Coding	1
311	RAB26	RAB26, Member RAS Oncogene Family	Protein Coding	1
312	RAB27A	RAB27A, Member RAS Oncogene Family	Protein Coding	1
313	RAB27B	RAB27B, Member RAS Oncogene Family	Protein Coding	1
314	RAB28	RAB28, Member RAS Oncogene Family	Protein Coding	1
315	RAB2B	RAB2B, Member RAS Oncogene Family	Protein Coding	1
316	RAB30	RAB30, Member RAS Oncogene Family	Protein Coding	1
317	RAB31	RAB31, Member RAS Oncogene Family	Protein Coding	1
318	RAB32	RAB32, Member RAS Oncogene Family	Protein Coding	1
319	RAB33A	RAB33A, Member RAS Oncogene Family	Protein Coding	1
320	RAB33B	RAB33B, Member RAS Oncogene Family	Protein Coding	1
321	RAB34	RAB34, Member RAS Oncogene Family	Protein Coding	1
322	RAB3A	RAB3A, Member RAS Oncogene Family	Protein Coding	1
323	RAB3B	RAB3B, Member RAS Oncogene Family	Protein Coding	1
324	RAB3C	RAB3C, Member RAS Oncogene Family	Protein Coding	1
325	RAB3D	RAB3D, Member RAS Oncogene Family	Protein Coding	1
326	RAB4A	RAB4A, Member RAS Oncogene Family	Protein Coding	1
327	RAB4B	RAB4B, Member RAS Oncogene Family	Protein Coding	1
328	RAB5A	RAB5A, Member RAS Oncogene Family	Protein Coding	1
329	RAB5B	RAB5B, Member RAS Oncogene Family	Protein Coding	1
330	RAB5C	RAB5C, Member RAS Oncogene Family	Protein Coding	1
331	RAB6A	RAB6A, Member RAS Oncogene Family	Protein Coding	1
332	RAB6B	RAB6B, Member RAS Oncogene Family	Protein Coding	1
333	RAB6C	RAB6C, Member RAS Oncogene Family	Protein Coding	1
334	RAB7A	RAB7A, Member RAS Oncogene Family	Protein Coding	1
335	RAB8A	RAB8A, Member RAS Oncogene Family	Protein Coding	1
336	RAB9A	RAB9A, Member RAS Oncogene Family	Protein Coding	1
337	RAB9B	RAB9B, Member RAS Oncogene Family	Protein Coding	1
338	SAFB	Scaffold Attachment Factor B	Protein Coding	1
339	EXOC5	Exocyst Complex Component 5	Protein Coding	1
340	EXOC6	Exocyst Complex Component 6	Protein Coding	1
341	SEC22B	SEC22 Homolog B, Vesicle Trafficking Protein	Protein Coding	1
342	EXOC1	Exocyst Complex Component 1	Protein Coding	1
343	EXOC2	Exocyst Complex Component 2	Protein Coding	1
344	EXOC3	Exocyst Complex Component 3	Protein Coding	1
345	EXOC4	Exocyst Complex Component 4	Protein Coding	1
346	SMURF1	SMAD Specific E3 Ubiquitin Protein Ligase 1	Protein Coding	1
347	SNAP23	Synaptosome Associated Protein 23	Protein Coding	1
348	SNAP25	Synaptosome Associated Protein 25	Protein Coding	1
349	STX1A	Syntaxin 1A	Protein Coding	1
350	STX1B	Syntaxin 1B	Protein Coding	1
351	STX3	Syntaxin 3	Protein Coding	1
352	STX4	Syntaxin 4	Protein Coding	1
353	STX5	Syntaxin 5	Protein Coding	1
354	TIAM1	TIAM Rac1 Associated GEF 1	Protein Coding	1
355	VAMP1	Vesicle Associated Membrane Protein 1	Protein Coding	1
356	VAMP2	Vesicle Associated Membrane Protein 2	Protein Coding	1
357	VAMP3	Vesicle Associated Membrane Protein 3	Protein Coding	1
358	VAPA	VAMP Associated Protein A	Protein Coding	1
359	VASP	Vasodilator Stimulated Phosphoprotein	Protein Coding	1
360	RHOB	Ras Homolog Family Member B	Protein Coding	1
361	RHOC	Ras Homolog Family Member C	Protein Coding	1
362	RHOD	Ras Homolog Family Member D	Protein Coding	1
363	RND3	Rho Family GTPase 3	Protein Coding	1
364	RHOG	Ras Homolog Family Member G	Protein Coding	1
365	RHOH	Ras Homolog Family Member H	Protein Coding	1
366	DIRAS3	DIRAS Family GTPase 3	Protein Coding	1
367	RHOJ	Ras Homolog Family Member J	Protein Coding	1
368	RND2	Rho Family GTPase 2	Protein Coding	1
369	RHOQ	Ras Homolog Family Member Q	Protein Coding	1
370	CDH2	Cadherin 2	Protein Coding	1
371	FER	FER Tyrosine Kinase	Protein Coding	1
372	GSN	Gelsolin	Protein Coding	1
373	IQGAP1	IQ Motif Containing GTPase Activating Protein 1	Protein Coding	1
374	LAMC3	Laminin Subunit Gamma 3	Protein Coding	1
375	LIMK1	LIM Domain Kinase 1	Protein Coding	1
376	LIMK2	LIM Domain Kinase 2	Protein Coding	1
377	MAPK6	Mitogen-Activated Protein Kinase 6	Protein Coding	1
378	PIK3R5	Phosphoinositide-3-Kinase Regulatory Subunit 5	Protein Coding	1
379	PAK1	P21 (RAC1) Activated Kinase 1	Protein Coding	1
380	PAK2	P21 (RAC1) Activated Kinase 2	Protein Coding	1
381	PAK3	P21 (RAC1) Activated Kinase 3	Protein Coding	1
382	PAK4	P21 (RAC1) Activated Kinase 4	Protein Coding	1
383	PAK6	P21 (RAC1) Activated Kinase 6	Protein Coding	1
384	PAK5	P21 (RAC1) Activated Kinase 5	Protein Coding	1
385	PDPK1	3-Phosphoinositide Dependent Protein Kinase 1	Protein Coding	1
386	PIK3R1	Phosphoinositide-3-Kinase Regulatory Subunit 1	Protein Coding	1
387	PIK3R2	Phosphoinositide-3-Kinase Regulatory Subunit 2	Protein Coding	1
388	PIK3R3	Phosphoinositide-3-Kinase Regulatory Subunit 3	Protein Coding	1
389	PIK3R4	Phosphoinositide-3-Kinase Regulatory Subunit 4	Protein Coding	1
390	PTK2	Protein Tyrosine Kinase 2	Protein Coding	1
391	PTK2B	Protein Tyrosine Kinase 2 Beta	Protein Coding	1
392	PXN	Paxillin	Protein Coding	1
393	ZYX	Zyxin	Protein Coding	1

Disorders associated with Sertoli-Sertoli Cell Junction Dynamics SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Noonan syndrome 1	Enrichment	BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MRAS, NRAS, RAF1, RRAS, RRAS2	10.45
2	Rasopathy	Enrichment	BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MRAS, NRAS, RAF1, RRAS2	10.39
3	Noonan syndrome and noonan-related syndrome	Enrichment	BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF1	9.26
4	Cardiofaciocutaneous syndrome 1	Enrichment	BRAF, KRAS, MAP2K1, MAP2K2	7.45
5	Cardiofaciocutaneous syndrome	Enrichment	BRAF, KRAS, MAP2K1, MAP2K2	7.45
6	Autosomal dominant macrothrombocytopenia	Enrichment	ACTN1, ITGA2B, ITGB3, TUBA8, TUBB1	6.94
7	Lung non-small cell carcinoma	Enrichment	BRAF, HRAS, KRAS, MAP2K1, NRAS	6.68
8	Loeys-dietz syndrome	Enrichment	TGFB2, TGFB3, TGFBR1, TGFBR2	6.08
9	Thyroid cancer, nonmedullary, 2	Enrichment	BRAF, HRAS, NRAS, PTEN	5.92
10	Follicular thyroid carcinoma	Enrichment	BRAF, HRAS, NRAS, PTEN	5.92
11	Melanocytic nevus syndrome, congenital	Enrichment	BRAF, HRAS, NRAS, RAF1	5.62
12	Langerhans cell histiocytosis	Enrichment	BRAF, MAP2K1, NRAS	5.58
13	Schimmelpenning-feuerstein-mims syndrome	Enrichment	HRAS, KRAS, NRAS	5.52
14	Diffuse gastric and lobular breast cancer syndrome	Enrichment	CDH1, CTNNA1, KRAS	5.52
15	Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant	Enrichment	CDH2, CTNNA3, JUP, TGFB3	5.19
16	Hereditary elliptocytosis	Enrichment	EPB41, SPTA1, SPTB	4.98
17	Congenital myopathy 4a, autosomal dominant	Enrichment	ACTA1, ITGA7, MAP3K20, MYH7, MYL2	4.89
18	Colorectal cancer	Enrichment	AKT1, CDH1, CTNNA1, CTNNB1, NRAS, PIK3R1, SRC	4.82
19	Rare autosomal dominant non-syndromic sensorineural deafness type dfna	Enrichment	ACTG1, MYH14, MYH9, MYO1A, MYO1C, MYO6, MYO7A, TJP2	4.77
20	Nevus, epidermal	Enrichment	HRAS, KRAS, NRAS	4.58
21	Lissencephaly	Enrichment	ACTG1, TUBB2B, TUBB3, TUBG1	4.44
22	Bladder cancer	Enrichment	CTNNA3, CTNNB1, HRAS, KRAS, PTEN	4.36
23	Thrombocytopenia	Enrichment	ACTN1, ITGA2B, ITGB3, SRC, TUBB1, WAS	4.31
24	Familial thoracic aortic aneurysm and aortic dissection	Enrichment	ACTA2, TGFB2, TGFB3, TGFBR1, TGFBR2	4.30
25	Fetomaternal alloimmune thrombocytopenia 1	Enrichment	ITGA2, ITGA2B, ITGB3	4.29
26	Blepharocheilodontic syndrome 1	Enrichment	CDH1, CTNND1	4.07
27	Loeys-dietz syndrome 2	Enrichment	TGFBR1, TGFBR2	4.07
28	Ras-associated autoimmune leukoproliferative disorder	Enrichment	KRAS, NRAS	4.07
29	Loeys-dietz syndrome 4	Enrichment	TGFB2, TGFB3	4.07
30	Baraitser-winter cerebrofrontofacial syndrome	Enrichment	ACTB, ACTG1	4.07
31	Marfan syndrome	Enrichment	TGFB2, TGFBR1, TGFBR2	4.06
32	Noonan syndrome 3	Enrichment	HRAS, KRAS, RAF1	4.06
33	Gallbladder cancer	Enrichment	BRAF, CTNNB1, KRAS	4.06
34	Pilomyxoid astrocytoma	Enrichment	BRAF, KRAS, RAF1	4.06
35	Hereditary breast ovarian cancer syndrome	Enrichment	BCAR1, CTNNA1, CTNNA2, KRAS, MYO7A, PTEN	3.97
36	Non-syndromic genetic deafness	Enrichment	ACTG1, MYH14, MYO15A, MYO3A, MYO6, MYO7A	3.91
37	Juvenile myelomonocytic leukemia	Enrichment	KRAS, NRAS, RRAS	3.80
38	Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant	Enrichment	CTNNA3, JUP, TGFB3	3.80
39	Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant	Enrichment	CTNNA3, JUP, TGFB3	3.80
40	Pyropoikilocytosis, hereditary	Enrichment	SPTA1, SPTB	3.72
41	Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis	Enrichment	CLDN1, CLDN16	3.72
42	Hypomagnesemia 5, renal, with or without ocular involvement	Enrichment	CLDN16, CLDN19	3.72
43	Renal hypomagnesemia 5 with ocular involvement	Enrichment	CLDN16, CLDN19	3.72
44	Epidermolysis bullosa, junctional 5b, with pyloric atresia	Enrichment	ITGA6, ITGB4, MYO6	3.69
45	Large congenital melanocytic nevus	Enrichment	HRAS, NRAS	3.60
46	Loeys-dietz syndrome 1	Enrichment	TGFBR1, TGFBR2	3.60
47	Tubulinopathy-associated dysgyria	Enrichment	TUBB2B, TUBB3	3.60
48	Nonsyndromic hearing loss	Enrichment	ACTG1, MYH14, MYO15A, MYO3A, MYO6, MYO7A	3.52
49	Arrhythmogenic right ventricular cardiomyopathy	Enrichment	ACTN2, CTNNA3, JUP	3.41
50	Chronic myelogenous leukemia, bcr-abl1 positive	Enrichment	KRAS, NRAS	3.30
51	Tubulinopathy	Enrichment	TUBB2A, TUBB2B	3.30
52	Bleeding disorder, platelet-type, 16	Enrichment	ITGA2B, ITGB3	3.25
53	Sensorineural hearing loss	Enrichment	CLDN14, MYO15A, MYO3A, MYO7A, RAB33A, STX4	3.20
54	Differentiated thyroid carcinoma	Enrichment	BRAF, HRAS, KRAS, NRAS	3.19
55	Protein-deficiency anemia	Enrichment	NRAS, SPTA1, SPTB	3.17
56	Dilated cardiomyopathy	Enrichment	ACTA1, ACTN2, BRAF, JUP, RAF1, VCL	3.08
57	Lung cancer susceptibility 3	Enrichment	ACTA2, BRAF, KRAS	3.07
58	Craniopharyngioma	Enrichment	BRAF, CTNNB1	2.95
59	Noonan syndrome with multiple lentigines	Enrichment	BRAF, RAF1	2.95
60	Congenital fibrosis of the extraocular muscles	Enrichment	TUBB2B, TUBB3	2.91
61	Breast adenocarcinoma	Enrichment	AKT1, KRAS	2.91
62	Cleft lip with or without cleft palate	Enrichment	CDH1, CTNND1	2.91
63	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	Enrichment	MYH9, TUBB1	2.84
64	Presynaptic congenital myasthenic syndromes	Enrichment	MYO9A, SNAP25, VAMP1	2.81
65	Capillary malformation-arteriovenous malformation 1	Enrichment	KRAS, MAP2K1	2.77
66	Leukemia, chronic myeloid	Enrichment	KRAS, NRAS	2.77
67	Hemimegalencephaly	Enrichment	AKT3, PTEN	2.73
68	Ovarian cancer	Enrichment	AKT1, CDH1, CTNNB1, KRAS, RRAS2	2.62
69	Hypertrophic cardiomyopathy	Enrichment	ACTN2, MYH7, MYH7B, MYL2, MYL3	2.61
70	Moyamoya disease 1	Enrichment	ACTA2, GUCY1A1	2.56
71	Adrenocortical carcinoma	Enrichment	CTNNB1, PRKAR1A	2.56
72	Hereditary spherocytosis	Enrichment	SPTA1, SPTB	2.56
73	Typical nemaline myopathy	Enrichment	ACTA1, CFL2	2.56
74	Megacystis-microcolon-intestinal hypoperistalsis syndrome 1	Enrichment	ACTG2, MYH11	2.55
75	Carney complex variant	Enrichment	MYH8, PRKAR1A	2.55
76	Pseudomyogenic hemangioendothelioma	Enrichment	ACTB, FOSB	2.55
77	Non-immune hydrops fetalis	Enrichment	ACTA1, HRAS, KRAS	2.55
78	Centronuclear myopathy	Enrichment	ACTA1, CFL2, MAP3K20	2.54
79	Arteriovenous malformation	Enrichment	HRAS, MAP2K1	2.54
80	Adult hepatocellular carcinoma	Enrichment	AXIN1, CTNNB1	2.54
81	Hereditary breast carcinoma	Enrichment	AKT1, CDH1, KRAS, PTEN	2.50
82	Rare autosomal recessive non-syndromic sensorineural deafness type dfnb	Enrichment	CLDN14, GOSR2, MYH9, MYO15A, MYO3A, MYO6, MYO7A	2.45
83	Myopathy, x-linked, with excessive autophagy	Enrichment	HRAS, MAP2K1	2.44
84	Glanzmann thrombasthenia 1	Enrichment	ITGA2B, ITGB3	2.42
85	Hemolytic anemia	Enrichment	SPTA1, SPTB	2.42
86	Visceral myopathy 1	Enrichment	ACTG2, MYH11	2.33
87	Congenital myopathy 3 with rigid spine	Enrichment	ACTA1, MYH7	2.33
88	Histiocytoid hemangioma	Enrichment	FOS, FOSB	2.33
89	Isolated congenital microcephaly	Enrichment	CASK, OCLN, RAB11A	2.31
90	Microcephaly	Enrichment	ACTB, ACTG1, CTNNB1, MAPK1, PAK3	2.25
91	Familial hypertrophic cardiomyopathy	Enrichment	ACTN2, MYH7, MYL2, MYL3	2.24
92	Ellis-van creveld syndrome	Enrichment	PRKACA, PRKACB	2.19
93	Junctional epidermolysis bullosa	Enrichment	ITGA6, ITGB4	2.19
94	Cowden syndrome	Enrichment	AKT1, PTEN	2.19
95	Neuromuscular disease	Enrichment	ACTA1, MYH7, SPTAN1	2.17
96	Intestinal pseudo-obstruction	Enrichment	ACTG2, MYH11	2.16
97	Nephrocalcinosis	Enrichment	CLDN16, CLDN19	2.10
98	Melanoma	Enrichment	BRAF, PTEN	2.10
99	Nephrolithiasis	Enrichment	CLDN16, CLDN19	2.10
100	Lynch syndrome	Enrichment	KRAS, TGFBR2	2.09
101	Periodic fever, familial, autosomal dominant	Enrichment	TNFRSF1A	2.04
102	Proteus syndrome	Enrichment	AKT1	2.04
103	Baraitser-winter syndrome 1	Enrichment	ACTB	2.04
104	Oculoectodermal syndrome	Enrichment	KRAS	2.04
105	Thrombocytopenia 1	Enrichment	WAS	2.04
106	Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement	Enrichment	TUBB3	2.04
107	Intellectual developmental disorder, x-linked 30	Enrichment	PAK3	2.04
108	Focal segmental glomerulosclerosis 1	Enrichment	ACTN4	2.04
109	Deafness, autosomal recessive 2	Enrichment	MYO7A	2.04
110	Arrhythmogenic right ventricular dysplasia, familial, 12	Enrichment	JUP	2.04
111	Macular dystrophy, patterned, 2	Enrichment	CTNNA1	2.04
112	Immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis	Enrichment	RAC2	2.04
113	Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction	Enrichment	ACTN2	2.04
114	Congenital myopathy 2a, typical, autosomal dominant	Enrichment	ACTA1	2.04
115	Melorheostosis, isolated	Enrichment	MAP2K1	2.04
116	Amyloidosis, finnish type	Enrichment	GSN	2.04
117	Multiple self-healing squamous epithelioma	Enrichment	TGFBR1	2.04
118	Cardiofaciocutaneous syndrome 3	Enrichment	MAP2K1	2.04
119	Melanosis, neurocutaneous	Enrichment	NRAS	2.04
120	Macrothrombocytopenia, isolated, 1, autosomal dominant	Enrichment	TUBB1	2.04
121	Myopathy, scapulohumeroperoneal	Enrichment	ACTA1	2.04
122	Caudal duplication anomaly	Enrichment	AXIN1	2.04
123	Noonan syndrome 6	Enrichment	NRAS	2.04
124	Ataxia-oculomotor apraxia 3	Enrichment	PIK3R5	2.04
125	Arrhythmogenic right ventricular dysplasia, familial, 13	Enrichment	CTNNA3	2.04
126	Noonan syndrome 11	Enrichment	MRAS	2.04
127	Naxos disease	Enrichment	JUP	2.04
128	Megacystis-microcolon-intestinal hypoperistalsis syndrome 5	Enrichment	ACTG2	2.04
129	Noonan syndrome 13	Enrichment	MAPK1	2.04
130	Knobloch syndrome 2	Enrichment	PAK2	2.04
131	Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies	Enrichment	RAC3	2.04
132	Cortical dysplasia, complex, with other brain malformations 9	Enrichment	CTNNA2	2.04
133	Congenital myopathy 8	Enrichment	ACTN2	2.04
134	Short syndrome	Enrichment	PIK3R1	2.04
135	Intellectual developmental disorder with macrocephaly, seizures, and speech delay	Enrichment	PAK1	2.04
136	Congenital smooth muscle hamartoma, with or without hemihypertrophy	Enrichment	ACTB	2.04
137	Charcot-marie-tooth disease type 4b1	Enrichment	MTMR2	2.04
138	Deafness, autosomal dominant 76	Enrichment	PLS1	2.04
139	Agenesis of corpus callosum, cardiac, ocular, and genital syndrome	Enrichment	CDH2	2.04
140	Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia	Enrichment	RAC2	2.04
141	Charcot-marie-tooth disease, demyelinating, type 4b1	Enrichment	MTMR2	2.04
142	Cardiofaciocutaneous syndrome 2	Enrichment	KRAS	2.04
143	Deafness, autosomal dominant 11	Enrichment	MYO7A	2.04
144	Cardiomyopathy, dilated, 1w	Enrichment	VCL	2.04
145	Camurati-engelmann disease 2	Enrichment	TGFB2	2.04
146	Actn3 deficiency	Enrichment	ACTN3	2.04
147	Becker nevus syndrome	Enrichment	ACTB	2.04
148	Melorheostosis	Enrichment	MAP2K1	2.04
149	Dystonia-deafness syndrome 1	Enrichment	ACTB	2.04
150	Visceral neuropathy, familial, 3, autosomal dominant	Enrichment	ACTG2	2.04
151	Colorectal cancer, hereditary nonpolyposis, type 6	Enrichment	TGFBR2	2.04
152	Arrhythmogenic right ventricular dysplasia, familial, 14	Enrichment	CDH2	2.04
153	Cortical dysplasia, complex, with other brain malformations 7	Enrichment	TUBB2B	2.04
154	Cortical malformations, occipital	Enrichment	LAMC3	2.04
155	Cardiomyopathy, familial hypertrophic, 15	Enrichment	VCL	2.04
156	Congenital myopathy 2b, severe infantile, autosomal recessive	Enrichment	ACTA1	2.04
157	Immunodeficiency 36 with lymphoproliferation	Enrichment	PIK3R1	2.04
158	Multiple sclerosis 5	Enrichment	TNFRSF1A	2.04
159	Cardiofaciocutaneous syndrome 4	Enrichment	MAP2K2	2.04
160	Cowden syndrome 6	Enrichment	AKT1	2.04
161	Bleeding disorder, platelet-type, 15	Enrichment	ACTN1	2.04
162	Oocyte/zygote/embryo maturation arrest 23	Enrichment	TUBA4A	2.04
163	Frontotemporal dementia and/or amyotrophic lateral sclerosis 9	Enrichment	TUBA4A	2.04
164	Autosomal dominant familial visceral neuropathy	Enrichment	ACTG2	2.04
165	Agammaglobulinemia 7, autosomal recessive	Enrichment	PIK3R1	2.04
166	Loeys-dietz syndrome 5	Enrichment	TGFB3	2.04
167	Tnf receptor-associated periodic fever syndrome	Enrichment	TNFRSF1A	2.04
168	Thrombocytopenia 6	Enrichment	SRC	2.04
169	Was-related disorders	Enrichment	WAS	2.04
170	Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies	Enrichment	RHOA	2.04
171	Takenouchi-kosaki syndrome	Enrichment	CDC42	2.04
172	Facial palsy, congenital, with ptosis and velopharyngeal dysfunction	Enrichment	TUBB6	2.04
173	Congenital myopathy 2c, severe infantile, autosomal dominant	Enrichment	ACTA1	2.04
174	Thrombocytopenia 8, with dysmorphic features and developmental delay	Enrichment	ACTB	2.04
175	Myopathy, distal, 6, adult-onset, autosomal dominant	Enrichment	ACTN2	2.04
176	Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies	Enrichment	RHOA	2.04
177	Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia	Enrichment	RAC2	2.04
178	Immunodeficiency 129	Enrichment	RHOH	2.04
179	Craniometadiaphyseal osteosclerosis with hip dysplasia	Enrichment	AXIN1	2.04
180	Macrothrombocytopenia, isolated, 2, autosomal dominant	Enrichment	TUBA8	2.04
181	Attention deficit-hyperactivity disorder 8	Enrichment	CDH2	2.04
182	Adenoid ameloblastoma	Enrichment	CTNNB1	2.04
183	Baraitser-winter syndrome	Enrichment	ACTB	2.04
184	Congenital myopathy 26	Enrichment	TUBA4A	2.04
185	Occipital pachygyria and polymicrogyria	Enrichment	LAMC3	2.04
186	Spastic ataxia 11, autosomal dominant	Enrichment	TUBA4A	2.04
187	Amyotrophic lateral sclerosis type 22	Enrichment	TUBA4A	2.04
188	Usher syndrome type 1b	Enrichment	MYO7A	2.04
189	T-cell immunodeficiency with epidermodysplasia verruciformis	Enrichment	RHOH	2.04
190	Breast lobular carcinoma	Enrichment	CDH1	2.04
191	Congenital pulmonary airway malformation	Enrichment	KRAS	2.04
192	Cerebral cavernous malformations 5	Enrichment	MAP3K3	2.04
193	Polymicrogyria with optic nerve hypoplasia	Enrichment	TUBA8	2.04
194	Zebra body myopathy	Enrichment	ACTA1	2.04
195	Infantile lad-like disease due to rac2 deficiency	Enrichment	RAC2	2.04
196	Congenital smooth muscle hamartoma	Enrichment	ACTB	2.04
197	Reticular dysgenesis-like severe combined immunodeficiency	Enrichment	RAC2	2.04
198	Nocarh syndrome	Enrichment	CDC42	2.04
199	Developmental malformations-deafness-dystonia syndrome	Enrichment	ACTB	2.04
200	Phakomatosis pigmentokeratotica	Enrichment	HRAS	2.04
201	Actin-accumulation myopathy	Enrichment	ACTA1	2.04
202	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom	Enrichment	RAC1	2.04
203	Verrucous hemangioma	Enrichment	MAP3K3	2.04
204	Myopathic intestinal pseudoobstruction	Enrichment	ACTG2	2.04
205	Rac2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome	Enrichment	RAC2	2.04
206	Neurocutaneous melanocytosis	Enrichment	NRAS	2.04
207	Microcystic stromal tumor	Enrichment	CTNNB1	2.04
208	Actg2 visceral myopathy	Enrichment	ACTG2	2.04
209	Focal epilepsy	Enrichment	SNAP25, SPTAN1	2.02
210	Lung cancer	Enrichment	ACTA2, BRAF, KRAS	2.01
211	Meningioma	Enrichment	AKT1, PTEN	1.94
212	Lip and oral cavity carcinoma	Enrichment	BRAF, HRAS	1.94
213	Deafness, autosomal recessive	Enrichment	CLDN14, GOSR2, MYH9, MYO15A, MYO7A	1.90
214	Arteriovenous malformations of the brain	Enrichment	CDH2, KRAS	1.89
215	Ehlers-danlos syndrome	Enrichment	TGFB2, TGFBR2	1.89
216	Autosomal recessive nonsyndromic deafness	Enrichment	CLDN14, GOSR2, MYH9, MYO15A, MYO7A	1.87
217	Elliptocytosis 2	Enrichment	SPTA1	1.86
218	Pyloric stenosis, infantile hypertrophic, 1	Enrichment	NOS1	1.86
219	Acrodysostosis 1 with or without hormone resistance	Enrichment	PRKAR1A	1.86
220	Hypomagnesemia 3, renal	Enrichment	CLDN16	1.86
221	Pseudo-torch syndrome 1	Enrichment	OCLN	1.86
222	Hypoinsulinemic hypoglycemia with hemihypertrophy	Enrichment	AKT2	1.86
223	Cleft lip/palate-ectodermal dysplasia syndrome	Enrichment	NECTIN1	1.86
224	Vacterl association with hydrocephalus	Enrichment	PTEN	1.86
225	Pallister-killian syndrome	Enrichment	ARAF	1.86
226	Systemic lupus erythematosus 6	Enrichment	ITGAM	1.86
227	Spinocerebellar ataxia 5	Enrichment	SPTBN2	1.86
228	Noonan syndrome 5	Enrichment	RAF1	1.86
229	Carney complex, type 1	Enrichment	PRKAR1A	1.86
230	Deafness, autosomal dominant 51	Enrichment	TJP2	1.86
231	Noonan syndrome 7	Enrichment	BRAF	1.86
232	Leopard syndrome 3	Enrichment	BRAF	1.86
233	Cardiomyopathy, dilated, 1nn	Enrichment	RAF1	1.86
234	Developmental and epileptic encephalopathy 5	Enrichment	SPTAN1	1.86
235	Aortic aneurysm, familial thoracic 8	Enrichment	PRKG1	1.86
236	Elliptocytosis 1	Enrichment	EPB41	1.86
237	Basal ganglia calcification, idiopathic, 8, autosomal recessive	Enrichment	JAM2	1.86
238	Spondylometaphyseal dysplasia, pagnamenta type	Enrichment	PRKG2	1.86
239	Helix syndrome	Enrichment	CLDN10	1.86
240	Myopathy, centronuclear, 6, with fiber-type disproportion	Enrichment	MAP3K20	1.86
241	Spherocytosis, type 3	Enrichment	SPTA1	1.86
242	Fetomaternal alloimmune thrombocytopenia 2	Enrichment	ITGA2B	1.86
243	Deafness, autosomal recessive 116	Enrichment	CLDN9	1.86
244	Azoospermia, obstructive, with nephrolithiasis	Enrichment	CLDN2	1.86
245	Night blindness, congenital stationary, type1i	Enrichment	GUCY2D	1.86
246	Cardioacrofacial dysplasia 2	Enrichment	PRKACB	1.86
247	Spinocerebellar ataxia, autosomal recessive 14	Enrichment	SPTBN2	1.86
248	Orofacial cleft 7	Enrichment	NECTIN1	1.86
249	Developmental delay, impaired speech, and behavioral abnormalities	Enrichment	SPTBN1	1.86
250	Myxoma, intracardiac	Enrichment	PRKAR1A	1.86
251	Papillary tumor of the pineal region	Enrichment	PTEN	1.86
252	Nemaline myopathy 7	Enrichment	CFL2	1.86
253	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	Enrichment	AKT3	1.86
254	Lymphangioma	Enrichment	BRAF	1.86
255	Phace association	Enrichment	BRAF	1.86
256	Hyperpigmentation, familial progressive, 1	Enrichment	SPTA1	1.86
257	Leopard syndrome 2	Enrichment	RAF1	1.86
258	Moyamoya disease 6 with or without achalasia	Enrichment	GUCY1A1	1.86
259	Pigmented nodular adrenocortical disease, primary, 4	Enrichment	PRKACA	1.86
260	Hemorrhagic destruction of the brain, subependymal calcification, and cataracts	Enrichment	JAM3	1.86
261	Ectodermal dysplasia-syndactyly syndrome 1	Enrichment	NECTIN4	1.86
262	Glioma susceptibility 2	Enrichment	PTEN	1.86
263	Cardioacrofacial dysplasia 1	Enrichment	PRKACA	1.86
264	Leukodystrophy, hypomyelinating, 22	Enrichment	CLDN11	1.86
265	Spherocytosis, type 2	Enrichment	SPTB	1.86
266	Moyamoya disease with early-onset achalasia	Enrichment	GUCY1A1	1.86
267	Elliptocytosis 3	Enrichment	SPTB	1.86
268	Primary hypomagnesemia	Enrichment	CLDN16	1.86
269	Trigonitis	Enrichment	RAF1	1.86
270	Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia	Enrichment	SPTAN1	1.86
271	Amelogenesis imperfecta, type ih	Enrichment	ITGB6	1.86
272	Developmental delay with or without epilepsy	Enrichment	SPTAN1	1.86
273	Neuronopathy, distal hereditary motor, autosomal dominant 11	Enrichment	SPTAN1	1.86
274	Capillary hemangioma	Enrichment	AKT3	1.86
275	Prkar1b-related neurodegenerative dementia with intermediate filaments	Enrichment	PRKAR1B	1.86
276	Idiopathic hypercalciuria	Enrichment	ADCY10	1.86
277	Fetomaternal alloimmune thrombocytopenia 3	Enrichment	ITGA2	1.86
278	Immune dysregulation, neurodevelopmental defects, and colitis	Enrichment	ITGAV	1.86
279	Syringocystadenoma papilliferum	Enrichment	BRAF	1.86
280	Ganglioglioma	Enrichment	BRAF	1.86
281	Nongerminomatous germ cell tumor	Enrichment	BRAF	1.86
282	Phace syndrome	Enrichment	BRAF	1.86
283	Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome	Enrichment	PTEN	1.86
284	Classic hairy cell leukemia	Enrichment	BRAF	1.86
285	Porencephaly-microcephaly-bilateral congenital cataract syndrome	Enrichment	JAM3	1.86
286	Akt2-related familial partial lipodystrophy	Enrichment	AKT2	1.86
287	Ear malformation	Enrichment	MYO15A, MYO6, MYO7A	1.81
288	Cardiomyopathy, familial hypertrophic, 1	Enrichment	MYH6, MYH7, MYH7B	1.81
289	Multiple sclerosis	Enrichment	ITGB4, TNFRSF1A	1.81
290	Cleft lip/palate	Enrichment	CDH1, NECTIN1	1.81
291	Hepatocellular carcinoma	Enrichment	AXIN1, CTNNB1	1.76
292	Camurati-engelmann disease 1	Enrichment	TGFB1	1.74
293	Costello syndrome	Enrichment	HRAS	1.74
294	Neutropenia, severe congenital, x-linked	Enrichment	WAS	1.74
295	Osteopathia striata with cranial sclerosis	Enrichment	CTNNB1	1.74
296	Wiskott-aldrich syndrome	Enrichment	WAS	1.74
297	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	Enrichment	PIK3R5	1.74
298	Aortic aneurysm, familial thoracic 2	Enrichment	ACTA2	1.74
299	Microvascular complications of diabetes 5	Enrichment	TGFBR2	1.74
300	Deafness, autosomal dominant 20	Enrichment	ACTG1	1.74
301	Smooth muscle dysfunction syndrome	Enrichment	ACTA2	1.74
302	Encephalocraniocutaneous lipomatosis	Enrichment	KRAS	1.74
303	Aortic aneurysm, familial thoracic 6	Enrichment	ACTA2	1.74
304	Baraitser-winter syndrome 2	Enrichment	ACTG1	1.74
305	Goiter, multinodular 1, with or without sertoli-leydig cell tumors	Enrichment	KEAP1	1.74
306	Moyamoya disease 5	Enrichment	ACTA2	1.74
307	Cortical dysplasia, complex, with other brain malformations 4	Enrichment	TUBG1	1.74
308	Blepharocheilodontic syndrome 2	Enrichment	CTNND1	1.74
309	Intellectual developmental disorder, autosomal dominant 48	Enrichment	RAC1	1.74
310	Noonan syndrome 12	Enrichment	RRAS2	1.74
311	Inflammatory bowel disease, immunodeficiency, and encephalopathy	Enrichment	TGFB1	1.74
312	Immunodeficiency 127	Enrichment	TNF	1.74
313	Childhood hepatocellular carcinoma	Enrichment	CTNNB1	1.74
314	Camurati-engelmann disease	Enrichment	TGFB1	1.74
315	Cortical dysplasia, complex, with other brain malformations 1	Enrichment	TUBB3	1.74
316	Immune system disease	Enrichment	CDC42	1.74
317	Juvenile nasopharyngeal angiofibroma	Enrichment	CTNNB1	1.74
318	Intermittent hydrarthrosis	Enrichment	TNFRSF1A	1.74
319	Teratoma	Enrichment	CTNNB1	1.74
320	Tafro syndrome	Enrichment	MAP2K2	1.74
321	Intestinal obstruction	Enrichment	ACTG2	1.74
322	Wooly hair nevus	Enrichment	HRAS	1.74
323	Auditory neuropathy	Enrichment	MYO7A, RAB33A, RAB9B	1.72
324	Nemaline myopathy	Enrichment	ACTA1, MYO18B	1.71
325	Rhabdomyosarcoma	Enrichment	HRAS, PTEN	1.70
326	Breast cancer	Enrichment	AKT1, CDH1, KRAS, PTEN	1.69
327	Gastric cancer	Enrichment	CDH1, KRAS, PTEN	1.67
328	Pigmented paravenous chorioretinal atrophy	Enrichment	CRB1	1.66
329	Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a	Enrichment	MYH3	1.66
330	Griscelli syndrome, type 2	Enrichment	RAB27A	1.66
331	Intellectual developmental disorder, x-linked 113	Enrichment	CSTF2	1.66
332	Deafness, autosomal dominant 17	Enrichment	MYH9	1.66
333	Deafness, autosomal dominant 48	Enrichment	MYO1A	1.66
334	Melanoma, cutaneous malignant 3	Enrichment	CDK4	1.66
335	Cardiomyopathy, familial hypertrophic, 8	Enrichment	MYL3	1.66
336	Spinocerebellar ataxia 12	Enrichment	PPP2R2B	1.66
337	Deafness, autosomal dominant 22	Enrichment	MYO6	1.66
338	Cardiomyopathy, dilated, 1ee	Enrichment	MYH6	1.66
339	Sick sinus syndrome 3	Enrichment	MYH6	1.66
340	Griscelli syndrome, type 1	Enrichment	MYO5A	1.66
341	Elejalde neuroectodermal melanolysosomal syndrome	Enrichment	MYO5A	1.66
342	Cone-rod dystrophy 18	Enrichment	RAB28	1.66
343	Diarrhea 12, with microvillus atrophy	Enrichment	STX3	1.66
344	Neurodevelopmental disorder with midbrain and hindbrain malformations	Enrichment	ARHGEF2	1.66
345	Developmental and epileptic encephalopathy 117	Enrichment	SNAP25	1.66
346	Parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development	Enrichment	PTPA	1.66
347	Parkinson disease 26, autosomal dominant	Enrichment	RAB32	1.66
348	Deafness, autosomal dominant 4a	Enrichment	MYH14	1.66
349	Charcot-marie-tooth disease, axonal, type 2b	Enrichment	RAB7A	1.66
350	Houge-janssens syndrome 4	Enrichment	PPP2R5C	1.66
351	Retinitis pigmentosa 12	Enrichment	CRB1	1.66
352	Charcot-marie-tooth disease type 2b	Enrichment	RAB7A	1.66
353	Deafness, autosomal recessive 37	Enrichment	MYO6	1.66
354	Diarrhea 15, congenital	Enrichment	MYO1A	1.66
355	Intellectual developmental disorder, autosomal dominant 76	Enrichment	MARK2	1.66
356	Atrial fibrillation, familial, 18	Enrichment	MYL4	1.66
357	Houge-janssens syndrome 2	Enrichment	PPP2R1A	1.66
358	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter	Enrichment	RAB11B	1.66
359	Deafness, autosomal recessive 30	Enrichment	MYO3A	1.66
360	Celiac disease 4	Enrichment	MYO9B	1.66
361	Cardiomyopathy, familial hypertrophic, 14	Enrichment	MYH6	1.66
362	Congenital disorder of glycosylation, type iiaa	Enrichment	STX5	1.66
363	Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements	Enrichment	VAMP2	1.66
364	Deafness, autosomal recessive 123	Enrichment	STX4	1.66
365	Peripheral neuropathy, myopathy, hoarseness, and hearing loss	Enrichment	MYH14	1.66
366	Epilepsy with generalized tonic-clonic seizures	Enrichment	SNAP25	1.66
367	Achromatopsia 7	Enrichment	ATF6	1.66
368	Focal segmental glomerulosclerosis 6	Enrichment	MYO1E	1.66
369	Warburg micro syndrome 3	Enrichment	RAB18	1.66
370	Leber congenital amaurosis 8	Enrichment	CRB1	1.66
371	Deafness, autosomal dominant 90	Enrichment	MYO3A	1.66
372	Myasthenic syndrome, congenital, 24, presynaptic	Enrichment	MYO9A	1.66
373	Neurodevelopmental disorder with language delay and seizures	Enrichment	TIAM1	1.66
374	Congenital myopathy 14	Enrichment	MYL1	1.66
375	Neurodevelopmental disorder with seizures and brain atrophy	Enrichment	EXOC7	1.66
376	Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy	Enrichment	EXOC8	1.66
377	Griscelli syndrome	Enrichment	RAB27A	1.66
378	Retinal dystrophy and microvillus inclusion disease	Enrichment	STX3	1.66
379	Generalized epilepsy with febrile seizures plus, type 9	Enrichment	STX1B	1.66
380	Orofaciodigital syndrome xx	Enrichment	RAB34	1.66
381	Klippel-feil syndrome	Enrichment	MYO18B	1.66
382	Cask-related intellectual disability	Enrichment	CASK	1.66
383	Autosomal dominant nonsyndromic hearing loss 17	Enrichment	MYH9	1.66
384	Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome	Enrichment	MYO6	1.66
385	Acute myeloid leukemia with mutated cebpa	Enrichment	CEBPA	1.66
386	Aplasia cutis-enamel dysplasia syndrome	Enrichment	FOSL2	1.66
387	Autosomal dominant nonsyndromic hearing loss 22	Enrichment	MYO6	1.66
388	Ppp2r1a-related neurodevelopmental disorder	Enrichment	PPP2R1A	1.66
389	Pigmented paravenous retinochoroidal atrophy	Enrichment	CRB1	1.66
390	Hydrops fetalis, nonimmune	Enrichment	ACTA1, HRAS	1.63
391	Desmoid disease, hereditary	Enrichment	CTNNB1	1.56
392	Psoriatic arthritis	Enrichment	TNF	1.56
393	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	Enrichment	PIK3R1	1.56
394	Epidermolysis bullosa, lethal acantholytic	Enrichment	JUP	1.56
395	Neurodevelopmental disorder with spastic diplegia and visual defects	Enrichment	CTNNB1	1.56
396	Immunodeficiency 14a with lymphoproliferation, autosomal dominant	Enrichment	PIK3R1	1.56
397	Anus, imperforate	Enrichment	CTNNB1	1.56
398	Cortical dysplasia, complex, with other brain malformations 5	Enrichment	TUBB2A	1.56
399	Exudative vitreoretinopathy 7	Enrichment	CTNNB1	1.56
400	Desmoid tumor	Enrichment	CTNNB1	1.56
401	Intrinsic cardiomyopathy	Enrichment	ACTN2	1.56
402	Immunodeficiency 14	Enrichment	PIK3R1	1.56
403	Migraine without aura	Enrichment	TNF	1.56
404	Spermatocytoma	Enrichment	HRAS	1.56
405	Butterfly-shaped pigment dystrophy	Enrichment	CTNNA1	1.56
406	Leukocyte adhesion deficiency, type i	Enrichment	ITGB2	1.56
407	Hypercalciuria, absorptive, 2	Enrichment	ADCY10	1.56
408	Amelogenesis imperfecta, type ig	Enrichment	PRKAR1A	1.56
409	Intellectual developmental disorder, x-linked, syndromic, raymond type	Enrichment	SPTAN1	1.56
410	Pulmonic stenosis	Enrichment	BRAF	1.56
411	Pigmented nodular adrenocortical disease, primary, 1	Enrichment	PRKAR1A	1.56
412	Leukocyte adhesion deficiency, type iii	Enrichment	ITGB2	1.56
413	Chudley-mccullough syndrome	Enrichment	SPTB	1.56
414	Duodenal atresia	Enrichment	GUCY2C	1.56
415	Bleeding disorder, platelet-type, 19	Enrichment	PRKACG	1.56
416	Cholestasis, progressive familial intrahepatic, 4	Enrichment	TJP2	1.56
417	Epiphyseal chondrodysplasia, miura type	Enrichment	NPR2	1.56
418	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness	Enrichment	SPTBN4	1.56
419	Marbach-schaaf neurodevelopmental syndrome	Enrichment	PRKAR1B	1.56
420	Epidermolysis bullosa, junctional 5a, intermediate	Enrichment	ITGB4	1.56
421	Usher syndrome, type iv	Enrichment	PRKAR1A	1.56
422	Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome	Enrichment	ITGA3	1.56
423	Acromesomelic dysplasia 4	Enrichment	PRKG2	1.56
424	Senior-loken syndrome 7	Enrichment	AKT3	1.56
425	Acrodysostosis	Enrichment	PRKAR1A	1.56
426	Split-foot malformation with mesoaxial polydactyly	Enrichment	MAP3K20	1.56
427	Acromesomelic dysplasia 1	Enrichment	NPR2	1.56
428	Fibrolamellar carcinoma	Enrichment	PRKACA	1.56
429	Congenital hemolytic anemia	Enrichment	SPTA1	1.56
430	Diarrhea 6	Enrichment	GUCY2C	1.56
431	Deafness, autosomal recessive 29	Enrichment	CLDN14	1.56
432	Ciliary dyskinesia, primary, 18	Enrichment	PRKAR1B	1.56
433	Bardet-biedl syndrome 16	Enrichment	AKT3	1.56
434	Congenital diarrhea 6	Enrichment	GUCY2C	1.56
435	Intestinal obstruction in the newborn due to guanylate cyclase 2c deficiency	Enrichment	GUCY2C	1.56
436	Isolated primary pigmented nodular adrenocortical disease	Enrichment	PRKAR1A	1.56
437	Localized junctional epidermolysis bullosa, non-herlitz type	Enrichment	ITGB4	1.56
438	Vacterl with hydrocephalus	Enrichment	PTEN	1.56
439	Juvenile polyposis of infancy	Enrichment	PTEN	1.56
440	Diffuse large b-cell lymphoma	Enrichment	BRAF, PTEN	1.55
441	Familial isolated dilated cardiomyopathy	Enrichment	ACTN2, MYH6, MYH7, VCL	1.53
442	Rare genetic deafness	Enrichment	ACTG1, MYH9, MYO15A, MYO6, MYO7A	1.51
443	Craniosynostosis	Enrichment	CTNNA1, NPR2	1.51
444	Neural tube defects	Enrichment	ITGB1, PARD3	1.49
445	Endometrial cancer	Enrichment	CDH1, PTEN	1.47
446	Connective tissue disease	Enrichment	ACTA2, TGFBR2	1.46
447	Nemaline myopathy 2	Enrichment	ACTA1	1.44
448	Polyposis syndrome, hereditary mixed, 1	Enrichment	CTNNA1	1.44
449	Autoimmune lymphoproliferative syndrome	Enrichment	ACTA2	1.44
450	Neurofibromatosis-noonan syndrome	Enrichment	MAP2K2	1.44
451	Megalencephaly-capillary malformation-polymicrogyria syndrome	Enrichment	PIK3R2	1.44
452	Chromosome 22q11.2 deletion syndrome, distal	Enrichment	MAPK1	1.44
453	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Enrichment	PIK3R2	1.44
454	Pilomatrixoma	Enrichment	CTNNB1	1.44
455	Aminoacylase 1 deficiency	Enrichment	ACTB	1.44
456	Alazami syndrome	Enrichment	CTNNB1	1.44
457	Lung sarcomatoid carcinoma	Enrichment	KRAS	1.44
458	Aortic aneurysm	Enrichment	TGFBR1	1.44
459	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	Enrichment	CDC42	1.44
460	Pilocytic astrocytoma	Enrichment	KRAS	1.44
461	Epidermolytic nevus	Enrichment	HRAS	1.44
462	Knobloch syndrome	Enrichment	PAK2	1.44
463	Cerebral malaria	Enrichment	TNF	1.44
464	Intermediate nemaline myopathy	Enrichment	ACTA1	1.44
465	Myocardial infarction	Enrichment	GUCY1A1, ITGB3	1.43
466	Malaria	Enrichment	NOS2, TNF	1.40
467	Hyper-ige syndrome 1, autosomal dominant, with recurrent infections	Enrichment	ITGB3	1.39
468	Ataxia-telangiectasia	Enrichment	BRAF	1.39
469	Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies	Enrichment	GUCY2C	1.39
470	Hypercholanemia, familial 1	Enrichment	TJP2	1.39
471	Muscular dystrophy, congenital, due to integrin alpha-7 deficiency	Enrichment	ITGA7	1.39
472	Thrombocytopenia 5	Enrichment	CLDN16	1.39
473	Epilepsy, familial focal, with variable foci 2	Enrichment	NPR2	1.39
474	Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy	Enrichment	SPTBN1	1.39
475	Short-rib thoracic dysplasia 11 with or without polydactyly	Enrichment	SPTAN1	1.39
476	Epidermolysis bullosa, junctional 6, with pyloric atresia	Enrichment	ITGA6	1.39
477	Tethered spinal cord syndrome	Enrichment	BRAF	1.39
478	Laryngeal squamous cell carcinoma	Enrichment	PTEN	1.39
479	Polr3-related leukodystrophy	Enrichment	GUCY2D	1.39
480	Bleeding disorder, platelet-type, 24	Enrichment	ITGB3	1.39
481	Alopecia - intellectual disability syndrome	Enrichment	ITGB6	1.39
482	Left ventricular noncompaction	Enrichment	ACTN2, MYH7, MYH7B	1.38
483	Aortic aneurysm, familial thoracic 4	Enrichment	MYH11	1.36
484	Spastic ataxia 1, autosomal dominant	Enrichment	VAMP1	1.36
485	Arthrogryposis, distal, type 2a	Enrichment	MYH3	1.36
486	Spondyloepimetaphyseal dysplasia, x-linked, with hypomyelinating leukodystrophy	Enrichment	RAB33A	1.36
487	Ebstein anomaly	Enrichment	MYH7	1.36
488	Retinitis pigmentosa 13	Enrichment	CRB1	1.36
489	Charcot-marie-tooth disease, x-linked recessive, 4, with or without cerebellar ataxia	Enrichment	RAB33A	1.36
490	Combined oxidative phosphorylation deficiency 6	Enrichment	RAB33A	1.36
491	Cataract 35	Enrichment	MYH9	1.36
492	Fg syndrome 4	Enrichment	CASK	1.36
493	Deafness, autosomal dominant 30	Enrichment	MYO3A	1.36
494	Griscelli syndrome, type 3	Enrichment	MYO5A	1.36
495	Arthrogryposis, distal, type 7	Enrichment	MYH8	1.36
496	Carpenter syndrome 1	Enrichment	RAB23	1.36
497	Arthrogryposis, distal, type 2b3	Enrichment	MYH3	1.36
498	Megacystis-microcolon-intestinal hypoperistalsis syndrome 2	Enrichment	MYH11	1.36
499	Atrial septal defect 3	Enrichment	MYH6	1.36
500	Retinitis pigmentosa-deafness syndrome	Enrichment	CRB1	1.36
501	Smith-mccort dysplasia	Enrichment	RAB33B	1.36
502	Syndromic x-linked intellectual disability	Enrichment	CASK	1.36
503	Cardiomyopathy, familial hypertrophic, 10	Enrichment	MYL2	1.36
504	Smith-mccort dysplasia 2	Enrichment	RAB33B	1.36
505	Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome	Enrichment	MYH2	1.36
506	Pseudosarcomatous fibromatosis	Enrichment	MYH9	1.36
507	Visceral myopathy 2	Enrichment	MYH11	1.36
508	Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy	Enrichment	MYL2	1.36
509	Spastic ataxia 1	Enrichment	VAMP1	1.36
510	Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism	Enrichment	MYO18B	1.36
511	Myasthenic syndrome, congenital, 25, presynaptic	Enrichment	VAMP1	1.36
512	Charcot-marie-tooth disease x-linked recessive 4	Enrichment	RAB33A	1.36
513	Arthrogryposis, distal, type 1c	Enrichment	MYL11	1.36
514	Megacystis-microcolon-intestinal hypoperistalsis syndrome 4	Enrichment	MYL9	1.36
515	Houge-janssens syndrome 3	Enrichment	PPP2CA	1.36
516	Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia	Enrichment	EXOC2	1.36
517	Klippel-feil anomaly-myopathy-facial dysmorphism syndrome	Enrichment	MYO18B	1.36
518	Childhood-onset autosomal recessive myopathy with external ophthalmoplegia	Enrichment	MYH2	1.36
519	Carney complex - trismus - pseudocamptodactyly syndrome	Enrichment	MYH8	1.36
520	Arrhythmogenic right ventricular dysplasia, familial, 1	Enrichment	TGFB3	1.34
521	Exudative vitreoretinopathy 1	Enrichment	CTNNB1	1.34
522	Knobloch syndrome 1	Enrichment	PAK2	1.34
523	Mosaic variegated aneuploidy syndrome 1	Enrichment	PAK6	1.34
524	Chromosome 15q11.2 deletion syndrome	Enrichment	TUBG1	1.34
525	Arrhythmogenic right ventricular dysplasia 1	Enrichment	TGFB3	1.34
526	Vascular dementia	Enrichment	TNF	1.34
527	Coloboma of choroid and retina	Enrichment	ACTG1	1.34
528	Severe congenital nemaline myopathy	Enrichment	ACTA1	1.34
529	Leukemia, acute myeloid	Enrichment	KRAS, NRAS	1.28
530	Cardiomyopathy, dilated, 1e	Enrichment	MYH7, MYL2	1.27
531	Atrial septal defect 1	Enrichment	TGFB2	1.27
532	Weyers acrofacial dysostosis	Enrichment	CTNNB1	1.27
533	Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1	Enrichment	TUBB2B	1.27
534	Hemihyperplasia, isolated	Enrichment	RHOA	1.27
535	Inflammatory bowel disease 25, autosomal recessive	Enrichment	TGFB1	1.27
536	Il10-related early-onset inflammatory bowel disease	Enrichment	TGFB1	1.27
537	Lung squamous cell carcinoma	Enrichment	KRAS	1.27
538	Classic ehlers-danlos syndrome	Enrichment	TGFBR1	1.27
539	Amelogenesis imperfecta, type iiia	Enrichment	ITGB6	1.27
540	Thyroid cancer, nonmedullary, 1	Enrichment	BRAF	1.27
541	Epidermolysis bullosa simplex 5c, with pyloric atresia	Enrichment	ITGB4	1.27
542	Retinitis pigmentosa 26	Enrichment	ITGA4	1.27
543	Arrhythmogenic right ventricular dysplasia, familial, 10	Enrichment	PRKAR1A	1.27
544	Meconium ileus	Enrichment	GUCY2C	1.27
545	Short stature with nonspecific skeletal abnormalities 1	Enrichment	NPR2	1.27
546	Newborn respiratory distress syndrome	Enrichment	BRAF	1.27
547	Idiopathic achalasia	Enrichment	NOS1	1.27
548	Charcot-marie-tooth hereditary neuropathy	Enrichment	SPTAN1	1.27
549	Glioma	Enrichment	PTEN	1.27
550	Cleft lip and alveolus	Enrichment	NECTIN1	1.27
551	Myopathy	Enrichment	ACTA1, MYH2, MYH7	1.24
552	Prostate cancer	Enrichment	CDH1, PTEN	1.22
553	Esophageal cancer	Enrichment	TGFBR2	1.20
554	Meniere disease	Enrichment	MYO7A	1.20
555	Myelofibrosis	Enrichment	SRC	1.20
556	Polymicrogyria, bilateral perisylvian, x-linked	Enrichment	TUBB2B	1.20
557	Childhood-onset nemaline myopathy	Enrichment	ACTA1	1.20
558	Overgrowth syndrome	Enrichment	PIK3R1	1.20
559	Cone-rod dystrophy 2	Enrichment	ATF6, CRB1, ITGA4, RAB28	1.20
560	Klippel-feil syndrome 1, autosomal dominant	Enrichment	MYO18B	1.19
561	Pelizaeus-merzbacher disease	Enrichment	RAB9B	1.19
562	Intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasia	Enrichment	CASK	1.19
563	Deafness, autosomal recessive 3	Enrichment	MYO15A	1.19
564	Cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction	Enrichment	MYH7B	1.19
565	Spastic paraplegia 2, x-linked	Enrichment	RAB9B	1.19
566	Spondylocarpotarsal synostosis syndrome	Enrichment	MYH3	1.19
567	Epilepsy, progressive myoclonic, 6	Enrichment	GOSR2	1.19
568	Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy	Enrichment	MYH15	1.19
569	Deafness, x-linked 5, with peripheral neuropathy	Enrichment	RAB33A	1.19
570	Muscular dystrophy, congenital, with or without seizures	Enrichment	GOSR2	1.19
571	X-linked deafness 5	Enrichment	RAB33A	1.19
572	Microvillus inclusion disease	Enrichment	STX3	1.19
573	Dedifferentiated liposarcoma	Enrichment	CDK4	1.19
574	Syndromic x-linked intellectual disability najm type	Enrichment	CASK	1.19
575	Cerebellar disease	Enrichment	CASK	1.19
576	Combined oxidative phosphorylation deficiency	Enrichment	RAB33A	1.19
577	Arachnoid cyst	Enrichment	PALS1	1.19
578	Qualitative or quantitative defects of beta-myosin heavy chain	Enrichment	MYH7	1.19
579	Idiopathic camptocormia	Enrichment	MYH7	1.19
580	Congenital diarrhea	Enrichment	MYO1A	1.19
581	Pelizeaus-merzbacher spectrum disorder	Enrichment	RAB9B	1.19
582	Melanoma of soft tissue	Enrichment	ATF1	1.19
583	Tricuspid valve insufficiency	Enrichment	MYH11	1.19
584	Well-differentiated liposarcoma	Enrichment	CDK4	1.19
585	Congenital myopathy	Enrichment	ACTA1, MYH7	1.19
586	Distal arthrogryposis	Enrichment	ACTA1, MYH3, MYL11	1.18
587	Alzheimer disease 2	Enrichment	NOS3	1.17
588	Epidermolysis bullosa simplex 1c, localized	Enrichment	ITGB4	1.17
589	Choroidal dystrophy, central areolar, 1	Enrichment	GUCY2D	1.17
590	3-methylglutaconic aciduria, type iii	Enrichment	GUCY2D	1.17
591	Macrocephaly/autism syndrome	Enrichment	PTEN	1.17
592	Glanzmann thrombasthenia 2	Enrichment	ITGB3	1.17
593	Pre-eclampsia	Enrichment	NOS3	1.17
594	Pervasive developmental disorder	Enrichment	SPTBN1	1.17
595	Epidermolysis bullosa	Enrichment	ITGA6	1.17
596	Hemangioma	Enrichment	PTEN	1.17
597	Aplasia cutis congenita	Enrichment	ITGB4	1.17
598	Acute megakaryocytic leukemia	Enrichment	PTEN	1.17
599	Cleft upper lip	Enrichment	NECTIN1	1.17
600	Rare pervasive developmental disorder	Enrichment	SPTBN1	1.17
601	Familial cerebral saccular aneurysm	Enrichment	TGFBR3	1.17
602	Lennox-gastaut syndrome	Enrichment	MAPK10	1.15
603	Exudative vitreoretinopathy	Enrichment	CTNNB1	1.15
604	Mosaic variegated aneuploidy syndrome	Enrichment	PAK6	1.15
605	Optic atrophy plus syndrome	Enrichment	CRB1, SNAP25, TUBB6	1.14
606	Charge syndrome	Enrichment	TNFRSF1A	1.10
607	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	Enrichment	RAC1	1.10
608	Bilateral perisylvian polymicrogyria	Enrichment	TUBB2B	1.10
609	Branchiootorenal syndrome 1	Enrichment	TJP2	1.10
610	Cowden syndrome 1	Enrichment	PTEN	1.10
611	Epidermolysis bullosa, junctional 1a, intermediate	Enrichment	ITGB4	1.10
612	Split-hand/foot malformation 1	Enrichment	MAP3K20	1.10
613	Wilms tumor 5	Enrichment	BRAF	1.10
614	Junctional epidermolysis bullosa non-herlitz type	Enrichment	ITGB4	1.10
615	Familial hypercholanemia	Enrichment	TJP2	1.10
616	Myopathy, distal, 1	Enrichment	MYH7	1.07
617	Klippel-feil syndrome 2, autosomal recessive	Enrichment	MYO18B	1.07
618	Congenital myopathy 7b, myosin storage, autosomal recessive	Enrichment	MYH7	1.07
619	Warburg micro syndrome 1	Enrichment	RAB18	1.07
620	Developmental and epileptic encephalopathy 2	Enrichment	SNAP25	1.07
621	Bestrophinopathy, autosomal recessive	Enrichment	CRB1	1.07
622	Congenital myopathy 7a, myosin storage, autosomal dominant	Enrichment	MYH7	1.07
623	Congenital myopathy 6 with ophthalmoplegia	Enrichment	MYH2	1.07
624	Congenital generalized lipodystrophy	Enrichment	FOS	1.07
625	Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1b	Enrichment	MYH3	1.07
626	Hyaline body myopathy	Enrichment	MYH7	1.07
627	Generalized epilepsy	Enrichment	STX1B	1.07
628	Hydrocephalus, congenital, 2, with or without brain or eye anomalies	Enrichment	MPDZ	1.07
629	Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)	Enrichment	MYH11	1.07
630	Mitral valve insufficiency	Enrichment	MYH11	1.07
631	Familial sick sinus syndrome	Enrichment	MYH6	1.07
632	Cat eye syndrome	Enrichment	ACTG1	1.05
633	Autosomal non-syndromic agammaglobulinemia	Enrichment	PIK3R1	1.05
634	Squamous cell carcinoma, head and neck	Enrichment	PTEN	1.03
635	Branchiootorenal syndrome	Enrichment	TJP2	1.03
636	Megacolon	Enrichment	AKT3	1.03
637	Epidermolysis bullosa simplex	Enrichment	ITGB4	1.03
638	Myeloma, multiple	Enrichment	KRAS, PIK3R2	1.03
639	Pectus excavatum	Enrichment	TGFBR1	1.01
640	Asthma	Enrichment	TNF	1.01
641	Usher syndrome type 2	Enrichment	MYO7A	1.01
642	Specific learning disability	Enrichment	MAPK1	1.01
643	Cone dystrophy	Enrichment	CRB1, RAB28	1.01
644	Autoinflammatory disease	Enrichment	RAB27A, TNFRSF1A	1.01
645	Systemic lupus erythematosus	Enrichment	ITGAM, TNF	0.99
646	Congenital hypothyroidism	Enrichment	TUBB1	0.98
647	Basal ganglia calcification, idiopathic, 1	Enrichment	JAM2	0.98
648	Leber congenital amaurosis 1	Enrichment	GUCY2D	0.98
649	Renal hypodysplasia/aplasia 1	Enrichment	ITGA8	0.98
650	Lymphoma, non-hodgkin, familial	Enrichment	BRAF	0.98
651	Perrault syndrome	Enrichment	CLDN14	0.98
652	Anemia, congenital, nonspherocytic hemolytic, 1	Enrichment	CASK	0.98
653	Arthrogryposis, distal, type 2b1	Enrichment	MYH3	0.98
654	Deafness, autosomal recessive 9	Enrichment	MYO15A	0.98
655	Deafness, autosomal recessive 63	Enrichment	MYH9	0.98
656	Congenital ptosis	Enrichment	MYH10	0.98
657	Otof-related hearing loss	Enrichment	MYO15A	0.98
658	Inherited acute myeloid leukemia	Enrichment	CEBPA	0.98
659	Acute myeloid leukemia with t(8;21)(q22;q22) translocation	Enrichment	CEBPA	0.98
660	Inherited cancer-predisposing syndrome	Enrichment	CDH1, CTNNA1, PRKAR1A, PTEN	0.95
661	Alzheimer's disease	Enrichment	TNF	0.95
662	Cardiomyopathy, familial hypertrophic, 4	Enrichment	BRAF	0.93
663	Primary hyperaldosteronism	Enrichment	BRAF	0.93
664	Ventricular septal defect	Enrichment	BRAF	0.93
665	Primary biliary cholangitis	Enrichment	TJP2	0.93
666	Renal agenesis, bilateral	Enrichment	ITGA8	0.93
667	Osteoporosis	Enrichment	SRC	0.92
668	Medulloblastoma	Enrichment	CTNNB1	0.92
669	Hemangioma, capillary infantile	Enrichment	MYH9	0.90
670	Anxiety	Enrichment	PALS1	0.90
671	Inherited arrhythmogenic cardiomyopathy	Enrichment	MYH7	0.90
672	Asphyxiating thoracic dystrophy	Enrichment	RAB34, SPTAN1	0.90
673	Corpus callosum, agenesis of	Enrichment	CDH2	0.89
674	Usher syndrome, type i	Enrichment	MYO7A	0.89
675	Isolated corpus callosum agenesis	Enrichment	CDH2	0.89
676	Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome	Enrichment	CDH2	0.89
677	Amelogenesis imperfecta, type ie	Enrichment	ITGB6	0.89
678	Stroke, ischemic	Enrichment	NOS3	0.89
679	Polymicrogyria	Enrichment	AKT3	0.89
680	Wolff-parkinson-white syndrome	Enrichment	JUP	0.86
681	Complex neurodevelopmental disorder	Enrichment	MYH10, PALS1, PPP2CA, SPTBN1, TIAM1	0.85
682	Meningioma, familial	Enrichment	PTEN	0.85
683	Uterine corpus cancer	Enrichment	PTEN	0.85
684	Congenital hydrocephalus	Enrichment	MPDZ	0.84
685	Familial isolated restrictive cardiomyopathy	Enrichment	MYL2	0.84
686	Polycystic liver disease	Enrichment	CTNNB1	0.84
687	Autosomal dominant polycystic liver disease	Enrichment	CTNNB1	0.84
688	Long qt syndrome	Enrichment	CTNNA3, MYH6	0.83
689	Heart, malformation of	Enrichment	MAPK1	0.81
690	Charcot-marie-tooth disease type 4	Enrichment	MTMR2	0.81
691	Cystic fibrosis	Enrichment	STX1A, TGFB1	0.80
692	Behcet syndrome	Enrichment	TNFRSF1A	0.79
693	Arthrogryposis, distal, type 1a	Enrichment	MYH3	0.79
694	Myocarditis	Enrichment	MYH7	0.79
695	Hypoplastic left heart syndrome	Enrichment	MYH6	0.79
696	Short-rib thoracic dysplasia 1 with or without polydactyly	Enrichment	RAB34, SPTAN1	0.78
697	Usher syndrome	Enrichment	CRB1, MYO7A	0.78
698	Acute promyelocytic leukemia	Enrichment	PRKAR1A	0.78
699	Spastic ataxia	Enrichment	SPTAN1, TUBB3	0.78
700	Williams-beuren syndrome	Enrichment	LIMK1	0.77
701	Genetic steroid-resistant nephrotic syndrome	Enrichment	ACTN4, MYO1E	0.76
702	Hepatoblastoma	Enrichment	CTNNB1	0.75
703	Cone-rod dystrophy 6	Enrichment	GUCY2D	0.75
704	Isolated macular dystrophy	Enrichment	ITGA4	0.75
705	Dystonia	Enrichment	CASK, MYO5A	0.74
706	Familial isolated arrhythmogenic right ventricular dysplasia	Enrichment	MYH7	0.74
707	Familial thoracic aortic aneurysm and dissection	Enrichment	MYH11	0.74
708	Visceral heterotaxy	Enrichment	LEFTY2	0.73
709	Developmental and epileptic encephalopathy	Enrichment	SNAP25, SPTAN1	0.72
710	Wilms tumor 1	Enrichment	BRAF	0.72
711	Achromatopsia	Enrichment	ATF6	0.70
712	Progressive myoclonus epilepsy	Enrichment	GOSR2	0.70
713	Pancreatic cancer	Enrichment	KRAS	0.68
714	Alzheimer disease, familial, 1	Enrichment	NOS3	0.68
715	Hypertension, essential	Enrichment	NOS3	0.68
716	Melanoma, cutaneous malignant 1	Enrichment	BRAF	0.68
717	Dandy-walker syndrome	Enrichment	BRAF	0.68
718	Nanophthalmos	Enrichment	CRB1	0.66
719	Restrictive cardiomyopathy	Enrichment	MYH7	0.63
720	Hereditary spastic paraplegia	Enrichment	RAB9B, SPTAN1	0.62
721	Nephrotic syndrome	Enrichment	ITGA3, MYO1E	0.61
722	Microphthalmia/coloboma 12	Enrichment	MYH10	0.60
723	Chromosome 1p36 deletion syndrome	Enrichment	PRKCZ	0.60
724	Stereotypic movement disorder	Enrichment	SNAP25	0.60
725	Skin disease	Enrichment	ITGB4	0.58
726	Myoclonic epilepsy of unverricht and lundborg	Enrichment	GOSR2	0.57
727	Aortic aneurysm, familial thoracic 1	Enrichment	MYH11	0.57
728	Heart disease	Enrichment	MYL2	0.57
729	Generalized epilepsy with febrile seizures plus	Enrichment	STX1B	0.57
730	Congenital myasthenic syndrome	Enrichment	VAMP1	0.57
731	Cakut	Enrichment	ACTG1	0.57
732	Coloboma of macula	Enrichment	MYH10	0.54
733	Myopia	Enrichment	MYH11	0.54
734	Fetal akinesia deformation sequence 1	Enrichment	ACTA1	0.54
735	Jeune thoracic dystrophy	Enrichment	SPTAN1	0.53
736	Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay	Enrichment	CASK	0.52
737	Hypertension	Enrichment	MYH9	0.52
738	Patent foramen ovale	Enrichment	MYH6	0.48
739	Early infantile developmental and epileptic encephalopathy	Enrichment	CASK	0.48
740	Severe covid-19	Enrichment	ITGAV	0.48
741	Leukodystrophy	Enrichment	RAB33A	0.44
742	Male infertility	Enrichment	CLDN2	0.42
743	Multisystem inflammatory syndrome in children	Enrichment	RAB27A	0.41
744	Undetermined early-onset epileptic encephalopathy	Enrichment	LIMK1	0.39
745	Familial atrial fibrillation	Enrichment	MYL4	0.38
746	Congenital nervous system abnormality	Enrichment	CASK, CTNNB1, PTEN	0.38
747	Nervous system disease	Enrichment	CASK, CTNNB1, PTEN	0.38
748	Benign epilepsy with centrotemporal spikes	Enrichment	SPTAN1	0.36
749	Type 2 diabetes mellitus	Enrichment	AKT2	0.35
750	Autism spectrum disorder	Enrichment	MAP2K1, PTEN	0.35
751	Centralopathic epilepsy	Enrichment	SPTAN1	0.35
752	West syndrome	Enrichment	SPTAN1	0.34
753	Meckel syndrome, type 1	Enrichment	EXOC4	0.32
754	Stargardt disease 1	Enrichment	CRB1	0.31
755	Eye disease	Enrichment	CRB1	0.26
756	Non-syndromic x-linked intellectual disability	Enrichment	CASK	0.26
757	Primary ovarian insufficiency	Enrichment	NOS3	0.25
758	Hereditary retinal dystrophy	Enrichment	CTNNA1, GUCY2D, ITGA4, MYO7A	0.24
759	Fundus dystrophy	Enrichment	CTNNA1, GUCY2D, ITGA4, MYO7A	0.24
760	Cerebral palsy	Enrichment	PALS1	0.23
761	Primary ciliary dyskinesia	Enrichment	PRKAR1B	0.18
762	Body mass index quantitative trait locus 11	Enrichment	MYH9	0.17
763	Autosomal dominant non-syndromic intellectual disability	Enrichment	RAB11A	0.17
764	Hypertelorism	Enrichment	MYH10	0.16
765	Leber plus disease	Enrichment	GUCY2D	0.13
766	Retinitis pigmentosa	Enrichment	GUCY2D, MYO7A	0.10
767	Autism	Enrichment	STX1A	0.10

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

Sertoli-Sertoli Cell Junction Dynamics

Pathway Network for Sertoli-Sertoli Cell Junction Dynamics

Pathway network for the Sertoli-Sertoli Cell Junction Dynamics SuperPath

Member Pathways for Sertoli-Sertoli Cell Junction Dynamics

Pathways in the Sertoli-Sertoli Cell Junction Dynamics SuperPath

Gene overlap in member pathways for Sertoli-Sertoli Cell Junction Dynamics SuperPath

Associated Genes for Sertoli-Sertoli Cell Junction Dynamics

Associated Disorders for Sertoli-Sertoli Cell Junction Dynamics

Disorders associated with Sertoli-Sertoli Cell Junction Dynamics SuperPath

STRING Interaction Network for Sertoli-Sertoli Cell Junction Dynamics

Sources for Sertoli-Sertoli Cell Junction Dynamics