Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases

Pathway network for the Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases SuperPath

Sources:

GeneGo (Thomson Reuters)

Pathways in the Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases SuperPath

#	Name	Source	Genes
1	Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases	GeneGo (Thomson Reuters)	ACTA1 ACTA2 ACTB ACTC1 ACTG1 ACTG2 ACTR2 ACTR3 ACTR3B ARPC1A ARPC1B ARPC2 ARPC3 ARPC4 ARPC5 CDC42 CFL1 CFL2 FLNA FSCN1 LIMK1 LIMK2 MYH1 MYH10 MYH11 MYH13 MYH14 MYH15 MYH16 MYH2 MYH3 MYH4 MYH6 MYH7 MYH8 MYH9 MYL1 MYL11 MYL12A MYL12B MYL2 MYL3 MYL4 MYL5 MYL6 MYL6B MYL7 MYL9 MYLK MYLK2 MYLK3 PAK1 PFN1 PFN2 PPP1CB PPP1R12A RAC1 RHOA ROCK1 ROCK2 WAS WASF1 (see all 62) (see less)
2	Cell adhesion Integrin-mediated cell adhesion and migration	GeneGo (Thomson Reuters)	ACTB ACTG1 ACTN1 ACTN2 ACTN3 ACTN4 ACTR2 ACTR3 ACTR3B ARHGAP35 ARPC1A ARPC1B ARPC2 ARPC3 ARPC4 ARPC5 BCAR1 CFL1 CFL2 COL1A1 COL1A2 COL2A1 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5 COL4A6 CRK DOCK1 FN1 GRB2 ITGA1 ITGA10 ITGA11 ITGA2 ITGA3 ITGA5 ITGA7 ITGB1 LAMA1 LAMB1 LAMC1 LIMK1 LIMK2 MAPK1 MAPK3 MYH1 MYH10 MYH11 MYH13 MYH14 MYH15 MYH16 MYH2 MYH3 MYH4 MYH6 MYH7 MYH8 MYH9 MYL1 MYL11 MYL12A MYL12B MYL2 MYL3 MYL4 MYL5 MYL6 MYL6B MYL7 MYL9 MYLK MYLK2 MYLK3 PAK1 PIP5K1C PPP1CB PPP1R12A PTK2 PXN RAC1 RASGRF1 RHOA ROCK1 ROCK2 SRC TLN1 TLN2 VCL WASL ZYX (see all 93) (see less)
3	Cytoskeleton remodeling Integrin outside-in signaling	GeneGo (Thomson Reuters)	ACTB ACTG1 ACTN1 ACTN2 ACTN3 ACTN4 ACTR2 ACTR3 ACTR3B AKT1 AKT2 AKT3 ARPC1A ARPC1B ARPC2 ARPC3 ARPC4 ARPC5 CCND1 COL1A1 COL1A2 COL2A1 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5 COL4A6 CTNNB1 FLNA FN1 GRB2 GSK3B HRAS ILK ITGA10 ITGA11 ITGA2 ITGA3 ITGA5 ITGA8 ITGAV ITGB1 ITGB3 JUN LAMA1 LAMB1 LAMC1 LEF1 LIMS1 MAP2K1 MAP2K2 MAPK1 MAPK3 NCK2 PAK1 PARVA PARVB PIP5K1C PTK2 PXN RAC1 RAF1 SOS1 SOS2 SRC TCF7 TCF7L1 TCF7L2 TLN1 TLN2 TRIO VCL VTN WAS WIPF2 (see all 76) (see less)
4	Cell adhesion Tight junctions	GeneGo (Thomson Reuters)	ACTA1 ACTA2 ACTB ACTC1 ACTG1 ACTG2 AFDN CAV1 CDX1 CDX2 CGN CLDN1 CLDN11 CLDN14 CLDN16 CLDN18 CLDN19 CLDN2 CLDN3 CLDN4 CLDN5 CLDN7 CLDN8 F11R ITGB1 JAM2 JAM3 LEF1 MPDZ MTDH MYH1 MYH10 MYH11 MYH13 MYH14 MYH15 MYH16 MYH2 MYH3 MYH4 MYH6 MYH7 MYH8 MYH9 MYL1 MYL11 MYL12A MYL12B MYL2 MYL3 MYL4 MYL5 MYL6 MYL6B MYL7 MYL9 NECTIN1 NKX2-1 OCLN SNAI1 SP1 TCF7 TCF7L1 TCF7L2 TJP1 TJP2 TJP3 WNK4 YBX3 (see all 69) (see less)
5	Development MAG-dependent inhibition of neurite outgrowth	GeneGo (Thomson Reuters)	ACTB ACTG1 ADAM17 APH1A APH1B ARHGAP32 ARHGDIA BDNF CFL1 CFL2 DSTN LIMK1 LINGO1 MAG MYH1 MYH10 MYH11 MYH13 MYH14 MYH15 MYH16 MYH2 MYH3 MYH4 MYH6 MYH7 MYH8 MYH9 MYL1 MYL11 MYL12A MYL12B MYL2 MYL3 MYL4 MYL5 MYL6 MYL6B MYL7 MYL9 NCSTN NGF NGFR NTF3 NTF4 NTRK1 NTRK2 NTRK3 OMG PPP1CB PPP1R12A PSEN1 PSEN2 PSENEN RASGRF1 RHOA ROCK1 ROCK2 RTN4 RTN4R (see all 60) (see less)

Gene overlap in member pathways for Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases SuperPath

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

#	Symbol	Description	Category	# Related Pathways
1	ACTB	Actin Beta	Protein Coding	5
2	ACTG1	Actin Gamma 1	Protein Coding	5
3	MYH1	Myosin Heavy Chain 1	Protein Coding	4
4	MYH2	Myosin Heavy Chain 2	Protein Coding	4
5	MYH3	Myosin Heavy Chain 3	Protein Coding	4
6	MYH4	Myosin Heavy Chain 4	Protein Coding	4
7	MYH6	Myosin Heavy Chain 6	Protein Coding	4
8	MYH7	Myosin Heavy Chain 7	Protein Coding	4
9	MYH8	Myosin Heavy Chain 8	Protein Coding	4
10	MYH9	Myosin Heavy Chain 9	Protein Coding	4
11	MYH10	Myosin Heavy Chain 10	Protein Coding	4
12	MYH11	Myosin Heavy Chain 11	Protein Coding	4
13	MYL1	Myosin Light Chain 1	Protein Coding	4
14	MYL2	Myosin Light Chain 2	Protein Coding	4
15	MYL3	Myosin Light Chain 3	Protein Coding	4
16	MYL4	Myosin Light Chain 4	Protein Coding	4
17	MYL5	Myosin Light Chain 5	Protein Coding	4
18	MYL6	Myosin Light Chain 6	Protein Coding	4
19	MYH13	Myosin Heavy Chain 13	Protein Coding	4
20	MYL9	Myosin Light Chain 9	Protein Coding	4
21	MYL12A	Myosin Light Chain 12A	Protein Coding	4
22	MYH15	Myosin Heavy Chain 15	Protein Coding	4
23	MYL11	Myosin Light Chain 11	Protein Coding	4
24	MYL7	Myosin Light Chain 7	Protein Coding	4
25	MYH14	Myosin Heavy Chain 14	Protein Coding	4
26	MYH16	Myosin Heavy Chain 16	Protein Coding	4
27	MYL12B	Myosin Light Chain 12B	Protein Coding	4
28	MYL6B	Myosin Light Chain 6B	Protein Coding	4
29	RHOA	Ras Homolog Family Member A	Protein Coding	3
30	CFL1	Cofilin 1	Protein Coding	3
31	CFL2	Cofilin 2	Protein Coding	3
32	LIMK1	LIM Domain Kinase 1	Protein Coding	3
33	PPP1R12A	Protein Phosphatase 1 Regulatory Subunit 12A	Protein Coding	3
34	PAK1	P21 (RAC1) Activated Kinase 1	Protein Coding	3
35	PPP1CB	Protein Phosphatase 1 Catalytic Subunit Beta	Protein Coding	3
36	RAC1	Rac Family Small GTPase 1	Protein Coding	3
37	ROCK1	Rho Associated Coiled-Coil Containing Protein Kinase 1	Protein Coding	3
38	ROCK2	Rho Associated Coiled-Coil Containing Protein Kinase 2	Protein Coding	3
39	ARPC5	Actin Related Protein 2/3 Complex Subunit 5	Protein Coding	3
40	ARPC4	Actin Related Protein 2/3 Complex Subunit 4	Protein Coding	3
41	ARPC3	Actin Related Protein 2/3 Complex Subunit 3	Protein Coding	3
42	ARPC1B	Actin Related Protein 2/3 Complex Subunit 1B	Protein Coding	3
43	ACTR3	Actin Related Protein 3	Protein Coding	3
44	ACTR2	Actin Related Protein 2	Protein Coding	3
45	ARPC2	Actin Related Protein 2/3 Complex Subunit 2	Protein Coding	3
46	ARPC1A	Actin Related Protein 2/3 Complex Subunit 1A	Protein Coding	3
47	ACTR3B	Actin Related Protein 3B	Protein Coding	3
48	ITGB1	Integrin Subunit Beta 1	Protein Coding	3
49	ACTA1	Actin Alpha 1, Skeletal Muscle	Protein Coding	2
50	ACTA2	Actin Alpha 2, Smooth Muscle	Protein Coding	2
51	ACTC1	Actin Alpha Cardiac Muscle 1	Protein Coding	2
52	ACTG2	Actin Gamma 2, Smooth Muscle	Protein Coding	2
53	FLNA	Filamin A	Protein Coding	2
54	LIMK2	LIM Domain Kinase 2	Protein Coding	2
55	MYLK	Myosin Light Chain Kinase	Protein Coding	2
56	WAS	WASP Actin Nucleation Promoting Factor	Protein Coding	2
57	MYLK2	Myosin Light Chain Kinase 2	Protein Coding	2
58	MYLK3	Myosin Light Chain Kinase 3	Protein Coding	2
59	ACTN4	Actinin Alpha 4	Protein Coding	2
60	ACTN1	Actinin Alpha 1	Protein Coding	2
61	ACTN2	Actinin Alpha 2	Protein Coding	2
62	ACTN3	Actinin Alpha 3	Protein Coding	2
63	COL1A1	Collagen Type I Alpha 1 Chain	Protein Coding	2
64	COL1A2	Collagen Type I Alpha 2 Chain	Protein Coding	2
65	COL2A1	Collagen Type II Alpha 1 Chain	Protein Coding	2
66	COL4A1	Collagen Type IV Alpha 1 Chain	Protein Coding	2
67	COL4A2	Collagen Type IV Alpha 2 Chain	Protein Coding	2
68	COL4A3	Collagen Type IV Alpha 3 Chain	Protein Coding	2
69	COL4A4	Collagen Type IV Alpha 4 Chain	Protein Coding	2
70	COL4A5	Collagen Type IV Alpha 5 Chain	Protein Coding	2
71	COL4A6	Collagen Type IV Alpha 6 Chain	Protein Coding	2
72	FN1	Fibronectin 1	Protein Coding	2
73	GRB2	Growth Factor Receptor Bound Protein 2	Protein Coding	2
74	ITGA2	Integrin Subunit Alpha 2	Protein Coding	2
75	ITGA3	Integrin Subunit Alpha 3	Protein Coding	2
76	ITGA5	Integrin Subunit Alpha 5	Protein Coding	2
77	LAMB1	Laminin Subunit Beta 1	Protein Coding	2
78	LAMC1	Laminin Subunit Gamma 1	Protein Coding	2
79	MAPK1	Mitogen-Activated Protein Kinase 1	Protein Coding	2
80	MAPK3	Mitogen-Activated Protein Kinase 3	Protein Coding	2
81	PTK2	Protein Tyrosine Kinase 2	Protein Coding	2
82	PXN	Paxillin	Protein Coding	2
83	RASGRF1	Ras Protein Specific Guanine Nucleotide Releasing Factor 1	Protein Coding	2
84	SRC	SRC Proto-Oncogene, Non-Receptor Tyrosine Kinase	Protein Coding	2
85	TLN1	Talin 1	Protein Coding	2
86	VCL	Vinculin	Protein Coding	2
87	ITGA10	Integrin Subunit Alpha 10	Protein Coding	2
88	ITGA11	Integrin Subunit Alpha 11	Protein Coding	2
89	PIP5K1C	Phosphatidylinositol-4-Phosphate 5-Kinase Type 1 Gamma	Protein Coding	2
90	TLN2	Talin 2	Protein Coding	2
91	LAMA1	Laminin Subunit Alpha 1	Protein Coding	2
92	TCF7	Transcription Factor 7	Protein Coding	2
93	TCF7L2	Transcription Factor 7 Like 2	Protein Coding	2
94	LEF1	Lymphoid Enhancer Binding Factor 1	Protein Coding	2
95	TCF7L1	Transcription Factor 7 Like 1	Protein Coding	2
96	CDC42	Cell Division Cycle 42	Protein Coding	1
97	PFN1	Profilin 1	Protein Coding	1
98	PFN2	Profilin 2	Protein Coding	1
99	FSCN1	Fascin Actin-Bundling Protein 1	Protein Coding	1
100	WASF1	WASP Family Member 1	Protein Coding	1
101	CRK	CRK Proto-Oncogene, Adaptor Protein	Protein Coding	1
102	DOCK1	Dedicator Of Cytokinesis 1	Protein Coding	1
103	ARHGAP35	Rho GTPase Activating Protein 35	Protein Coding	1
104	ITGA1	Integrin Subunit Alpha 1	Protein Coding	1
105	ITGA7	Integrin Subunit Alpha 7	Protein Coding	1
106	ZYX	Zyxin	Protein Coding	1
107	WASL	WASP Like Actin Nucleation Promoting Factor	Protein Coding	1
108	BCAR1	BCAR1 Scaffold Protein, Cas Family Member	Protein Coding	1
109	AKT1	AKT Serine/Threonine Kinase 1	Protein Coding	1
110	AKT2	AKT Serine/Threonine Kinase 2	Protein Coding	1
111	CCND1	Cyclin D1	Protein Coding	1
112	CTNNB1	Catenin Beta 1	Protein Coding	1
113	GSK3B	Glycogen Synthase Kinase 3 Beta	Protein Coding	1
114	HRAS	HRas Proto-Oncogene, GTPase	Protein Coding	1
115	ILK	Integrin Linked Kinase	Protein Coding	1
116	ITGAV	Integrin Subunit Alpha V	Protein Coding	1
117	ITGB3	Integrin Subunit Beta 3	Protein Coding	1
118	JUN	Jun Proto-Oncogene, AP-1 Transcription Factor Subunit	Protein Coding	1
119	LIMS1	LIM Zinc Finger Domain Containing 1	Protein Coding	1
120	MAP2K1	Mitogen-Activated Protein Kinase Kinase 1	Protein Coding	1
121	MAP2K2	Mitogen-Activated Protein Kinase Kinase 2	Protein Coding	1
122	RAF1	Raf-1 Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	1
123	SOS1	SOS Ras/Rac Guanine Nucleotide Exchange Factor 1	Protein Coding	1
124	SOS2	SOS Ras/Rho Guanine Nucleotide Exchange Factor 2	Protein Coding	1
125	TRIO	Trio Rho Guanine Nucleotide Exchange Factor	Protein Coding	1
126	VTN	Vitronectin	Protein Coding	1
127	NCK2	NCK Adaptor Protein 2	Protein Coding	1
128	ITGA8	Integrin Subunit Alpha 8	Protein Coding	1
129	AKT3	AKT Serine/Threonine Kinase 3	Protein Coding	1
130	PARVB	Parvin Beta	Protein Coding	1
131	PARVA	Parvin Alpha	Protein Coding	1
132	WIPF2	WAS/WASL Interacting Protein Family Member 2	Protein Coding	1
133	CAV1	Caveolin 1	Protein Coding	1
134	CDX1	Caudal Type Homeobox 1	Protein Coding	1
135	CDX2	Caudal Type Homeobox 2	Protein Coding	1
136	CLDN4	Claudin 4	Protein Coding	1
137	CLDN3	Claudin 3	Protein Coding	1
138	CLDN7	Claudin 7	Protein Coding	1
139	AFDN	Afadin, Adherens Junction Formation Factor	Protein Coding	1
140	CLDN11	Claudin 11	Protein Coding	1
141	NECTIN1	Nectin Cell Adhesion Molecule 1	Protein Coding	1
142	SNAI1	Snail Family Transcriptional Repressor 1	Protein Coding	1
143	SP1	Sp1 Transcription Factor	Protein Coding	1
144	NKX2-1	NK2 Homeobox 1	Protein Coding	1
145	TJP1	Tight Junction Protein 1	Protein Coding	1
146	CLDN5	Claudin 5	Protein Coding	1
147	YBX3	Y-Box Binding Protein 3	Protein Coding	1
148	MPDZ	Multiple PDZ Domain Crumbs Cell Polarity Complex Component	Protein Coding	1
149	CLDN8	Claudin 8	Protein Coding	1
150	CLDN2	Claudin 2	Protein Coding	1
151	CLDN1	Claudin 1	Protein Coding	1
152	TJP2	Tight Junction Protein 2	Protein Coding	1
153	CLDN16	Claudin 16	Protein Coding	1
154	CLDN14	Claudin 14	Protein Coding	1
155	TJP3	Tight Junction Protein 3	Protein Coding	1
156	F11R	F11 Receptor	Protein Coding	1
157	CLDN18	Claudin 18	Protein Coding	1
158	CGN	Cingulin	Protein Coding	1
159	JAM2	Junctional Adhesion Molecule 2	Protein Coding	1
160	WNK4	WNK Lysine Deficient Protein Kinase 4	Protein Coding	1
161	JAM3	Junctional Adhesion Molecule 3	Protein Coding	1
162	MTDH	Metadherin	Protein Coding	1
163	CLDN19	Claudin 19	Protein Coding	1
164	OCLN	Occludin	Protein Coding	1
165	ARHGDIA	Rho GDP Dissociation Inhibitor Alpha	Protein Coding	1
166	BDNF	Brain Derived Neurotrophic Factor	Protein Coding	1
167	MAG	Myelin Associated Glycoprotein	Protein Coding	1
168	NGF	Nerve Growth Factor	Protein Coding	1
169	NGFR	Nerve Growth Factor Receptor	Protein Coding	1
170	NTF3	Neurotrophin 3	Protein Coding	1
171	NTF4	Neurotrophin 4	Protein Coding	1
172	NTRK1	Neurotrophic Receptor Tyrosine Kinase 1	Protein Coding	1
173	NTRK2	Neurotrophic Receptor Tyrosine Kinase 2	Protein Coding	1
174	NTRK3	Neurotrophic Receptor Tyrosine Kinase 3	Protein Coding	1
175	OMG	Oligodendrocyte Myelin Glycoprotein	Protein Coding	1
176	PSEN1	Presenilin 1	Protein Coding	1
177	PSEN2	Presenilin 2	Protein Coding	1
178	ADAM17	ADAM Metallopeptidase Domain 17	Protein Coding	1
179	ARHGAP32	Rho GTPase Activating Protein 32	Protein Coding	1
180	DSTN	Destrin, Actin Depolymerizing Factor	Protein Coding	1
181	NCSTN	Nicastrin	Protein Coding	1
182	APH1A	Aph-1A Gamma-Secretase Subunit	Protein Coding	1
183	PSENEN	Presenilin Enhancer, Gamma-Secretase Subunit	Protein Coding	1
184	RTN4	Reticulon 4	Protein Coding	1
185	RTN4R	Reticulon 4 Receptor	Protein Coding	1
186	APH1B	Aph-1B Gamma-Secretase Subunit	Protein Coding	1
187	LINGO1	Leucine Rich Repeat And Ig Domain Containing 1	Protein Coding	1

Disorders associated with Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Noonan syndrome 1	Enrichment	HRAS, MAP2K1, MAP2K2, RAF1, SOS1, SOS2	8.62
2	Rasopathy	Enrichment	HRAS, MAP2K1, MAP2K2, RAF1, SOS1, SOS2	8.27
3	Noonan syndrome and noonan-related syndrome	Enrichment	HRAS, MAP2K1, MAP2K2, RAF1, SOS1	7.86
4	Digenic alport syndrome	Enrichment	COL4A3, COL4A4, COL4A5	6.77
5	Megacystis-microcolon-intestinal hypoperistalsis syndrome 1	Enrichment	ACTG2, MYH11, MYLK	6.44
6	Visceral myopathy 1	Enrichment	ACTG2, MYH11, MYLK	6.04
7	Alport syndrome 3a, autosomal dominant	Enrichment	COL4A3, COL4A4, COL4A5	5.78
8	Autosomal dominant alport syndrome	Enrichment	COL4A3, COL4A4, COL4A5	5.78
9	Alport syndrome	Enrichment	COL4A3, COL4A4, COL4A5	5.78
10	Nephrotic syndrome	Enrichment	COL4A3, COL4A4, COL4A5, FN1, ITGA3	5.40
11	Noonan syndrome 3	Enrichment	HRAS, RAF1, SOS1	5.24
12	Familial hypertrophic cardiomyopathy	Enrichment	ACTC1, MYH7, MYL2, MYL3	4.83
13	Baraitser-winter cerebrofrontofacial syndrome	Enrichment	ACTB, ACTG1	4.72
14	Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis	Enrichment	CLDN1, CLDN16	4.59
15	Hypomagnesemia 5, renal, with or without ocular involvement	Enrichment	CLDN16, CLDN19	4.59
16	Renal hypomagnesemia 5 with ocular involvement	Enrichment	CLDN16, CLDN19	4.59
17	Spondyloepimetaphyseal dysplasia, strudwick type	Enrichment	COL2A1, FN1	4.51
18	Spondylometaphyseal dysplasia, corner fracture type	Enrichment	COL2A1, FN1	4.51
19	Ehlers-danlos syndrome, arthrochalasia type, 2	Enrichment	COL1A1, COL1A2	4.51
20	Ehlers-danlos/osteogenesis imperfecta syndrome	Enrichment	COL1A1, COL1A2	4.51
21	X-linked diffuse leiomyomatosis-alport syndrome	Enrichment	COL4A5, COL4A6	4.51
22	Dilated cardiomyopathy	Enrichment	ACTA1, ACTC1, MYH6, MYH7, MYL2	4.50
23	Distal arthrogryposis	Enrichment	ACTA1, ACTC1, MYH3, MYL11	4.41
24	Congenital myopathy 4a, autosomal dominant	Enrichment	ACTA1, MYH7, MYL2	4.40
25	Hypertrophic cardiomyopathy	Enrichment	ACTC1, MYH7, MYL2, MYL3	4.37
26	Familial thoracic aortic aneurysm and aortic dissection	Enrichment	ACTA2, FLNA, MYH11, MYLK	4.33
27	Alzheimer disease 4	Enrichment	PSEN1, PSEN2	4.24
28	Osteoporosis	Enrichment	COL1A1, COL1A2, SRC	4.23
29	Microcephaly	Enrichment	ACTB, ACTG1, COL4A1, CTNNB1, MAPK1, TRIO	4.19
30	Patent foramen ovale	Enrichment	ACTC1, FLNA, MYH6	4.15
31	Kidney disease	Enrichment	COL4A3, COL4A4, COL4A5	4.14
32	Familial isolated dilated cardiomyopathy	Enrichment	MYH6, MYH7, PSEN1, PSEN2	4.06
33	Hematuria, benign familial, 1	Enrichment	COL4A3, COL4A4	4.03
34	High bone mass osteogenesis imperfecta	Enrichment	COL1A1, COL1A2	4.03
35	Myopia	Enrichment	COL2A1, COL4A4, MYH11	3.87
36	Rare autosomal dominant non-syndromic sensorineural deafness type dfna	Enrichment	ACTG1, MYH14, MYH9, TJP2	3.86
37	Thrombocytopenia	Enrichment	ACTN1, ITGB3, SRC, WAS	3.83
38	Hypertension	Enrichment	COL4A4, COL4A5, MYH9	3.79
39	Cardiomyopathy, familial hypertrophic, 1	Enrichment	MYH6, MYH7, MYLK2	3.76
40	Ehlers-danlos syndrome, arthrochalasia type, 1	Enrichment	COL1A1, COL1A2	3.73
41	Brain small vessel disease 1 with or without ocular anomalies	Enrichment	COL4A1, COL4A2	3.73
42	Cardiofaciocutaneous syndrome 1	Enrichment	MAP2K1, MAP2K2	3.73
43	Alport syndrome 2, autosomal recessive	Enrichment	COL4A3, COL4A4	3.73
44	Cardiofaciocutaneous syndrome	Enrichment	MAP2K1, MAP2K2	3.73
45	Autosomal recessive alport syndrome	Enrichment	COL4A3, COL4A4	3.73
46	Osteogenesis imperfecta with normal sclerae, dominant form	Enrichment	COL1A1, COL1A2	3.73
47	Congenital myopathy 3 with rigid spine	Enrichment	ACTA1, MYH7	3.69
48	Heart, malformation of	Enrichment	COL2A1, MAPK1, MYH6	3.63
49	Intestinal pseudo-obstruction	Enrichment	ACTG2, MYH11	3.52
50	Typical nemaline myopathy	Enrichment	ACTA1, CFL2	3.52
51	Familial porencephaly	Enrichment	COL4A1, COL4A2	3.51
52	Neuropathy, hereditary sensory and autonomic, type v	Enrichment	NGF, NTRK1	3.40
53	Early-onset autosomal dominant alzheimer disease	Enrichment	PSEN1, PSEN2	3.40
54	Ehlers-danlos syndrome, classic type, 1	Enrichment	COL1A1, COL1A2	3.34
55	Osteogenesis imperfecta, type i	Enrichment	COL1A1, COL1A2	3.34
56	Hemorrhage, intracerebral	Enrichment	COL4A1, COL4A2	3.34
57	Keratoconus	Enrichment	COL1A1, COL4A1	3.34
58	Fetomaternal alloimmune thrombocytopenia 1	Enrichment	ITGA2, ITGB3	3.34
59	Classic ehlers-danlos syndrome	Enrichment	COL1A1, COL1A2	3.34
60	Osteogenesis imperfecta, type ii	Enrichment	COL1A1, COL1A2	3.19
61	Anterior segment dysgenesis 5	Enrichment	ARHGAP35, COL4A1	3.16
62	Familial thoracic aortic aneurysm and dissection	Enrichment	MYH11, MYLK	3.14
63	Myopathy	Enrichment	ACTA1, MYH2, MYH7	3.10
64	Melanocytic nevus syndrome, congenital	Enrichment	HRAS, RAF1	3.07
65	Arteriovenous malformation	Enrichment	HRAS, MAP2K1	2.96
66	Nephrocalcinosis	Enrichment	CLDN16, CLDN19	2.95
67	Nephrolithiasis	Enrichment	CLDN16, CLDN19	2.95
68	Myopathy, x-linked, with excessive autophagy	Enrichment	HRAS, MAP2K1	2.87
69	Autosomal dominant macrothrombocytopenia	Enrichment	ACTN1, ITGB3	2.87
70	Primary bone dysplasia	Enrichment	COL1A1, COL1A2	2.87
71	Colorectal cancer	Enrichment	AKT1, CCND1, CTNNB1, SRC	2.85
72	Osteochondrodysplasia	Enrichment	COL1A1, COL1A2	2.78
73	Lung non-small cell carcinoma	Enrichment	HRAS, MAP2K1	2.78
74	Aortic aneurysm, familial thoracic 1	Enrichment	MYH11, MYLK	2.74
75	Peters-plus syndrome	Enrichment	ARHGAP35, COL4A1	2.69
76	Osteogenesis imperfecta, type iv	Enrichment	COL1A1, COL1A2	2.63
77	Chronic kidney disease	Enrichment	COL4A4, COL4A5	2.63
78	Cardiomyopathy, dilated, 1e	Enrichment	MYH7, MYL2	2.60
79	Neuromuscular disease	Enrichment	ACTA1, MYH7	2.52
80	Osteogenesis imperfecta, type iii	Enrichment	COL1A1, COL1A2	2.51
81	Congenital myopathy	Enrichment	ACTA1, MYH7	2.48
82	Centronuclear myopathy	Enrichment	ACTA1, CFL2	2.39
83	Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a	Enrichment	MYH3	2.35
84	Baraitser-winter syndrome 1	Enrichment	ACTB	2.35
85	Deafness, autosomal dominant 17	Enrichment	MYH9	2.35
86	Cardiomyopathy, familial hypertrophic, 8	Enrichment	MYL3	2.35
87	Acne inversa, familial, 1	Enrichment	NCSTN	2.35
88	Nephrotic syndrome, type 8	Enrichment	ARHGDIA	2.35
89	Cardiomyopathy, dilated, 1ee	Enrichment	MYH6	2.35
90	Sick sinus syndrome 3	Enrichment	MYH6	2.35
91	Developmental and epileptic encephalopathy 58	Enrichment	NTRK2	2.35
92	Deafness, autosomal dominant 4a	Enrichment	MYH14	2.35
93	Congenital smooth muscle hamartoma, with or without hemihypertrophy	Enrichment	ACTB	2.35
94	Cardiomyopathy, dilated, 1v	Enrichment	PSEN2	2.35
95	Atrial fibrillation, familial, 18	Enrichment	MYL4	2.35
96	Nemaline myopathy 7	Enrichment	CFL2	2.35
97	Becker nevus syndrome	Enrichment	ACTB	2.35
98	Dystonia-deafness syndrome 1	Enrichment	ACTB	2.35
99	Cardiomyopathy, familial hypertrophic, 14	Enrichment	MYH6	2.35
100	Cardiomyopathy, dilated, 1u	Enrichment	PSEN1	2.35
101	Glaucoma 1, open angle, o	Enrichment	NTF4	2.35
102	Peripheral neuropathy, myopathy, hoarseness, and hearing loss	Enrichment	MYH14	2.35
103	Acne inversa, familial, 2, with or without dowling-degos disease	Enrichment	PSENEN	2.35
104	Obesity, hyperphagia, and developmental delay	Enrichment	NTRK2	2.35
105	Acne inversa, familial, 3	Enrichment	PSEN1	2.35
106	Intellectual developmental disorder, autosomal recessive 64	Enrichment	LINGO1	2.35
107	Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies	Enrichment	RHOA	2.35
108	Spastic paraplegia 75, autosomal recessive	Enrichment	MAG	2.35
109	Noonan syndrome-like disorder with loose anagen hair 2	Enrichment	PPP1CB	2.35
110	Thrombocytopenia 8, with dysmorphic features and developmental delay	Enrichment	ACTB	2.35
111	Congenital myopathy 14	Enrichment	MYL1	2.35
112	Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies	Enrichment	RHOA	2.35
113	Baraitser-winter syndrome	Enrichment	ACTB	2.35
114	Autosomal dominant nonsyndromic hearing loss 17	Enrichment	MYH9	2.35
115	Congenital smooth muscle hamartoma	Enrichment	ACTB	2.35
116	Developmental malformations-deafness-dystonia syndrome	Enrichment	ACTB	2.35
117	Pash syndrome	Enrichment	NCSTN	2.35
118	Huntington's disease-like	Enrichment	PSEN2	2.35
119	Thrombocytopenia 1	Enrichment	WAS	2.34
120	Otopalatodigital syndrome, type i	Enrichment	FLNA	2.34
121	Intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linked	Enrichment	FLNA	2.34
122	Congenital myopathy 2a, typical, autosomal dominant	Enrichment	ACTA1	2.34
123	Amyotrophic lateral sclerosis 18	Enrichment	PFN1	2.34
124	Myopathy, scapulohumeroperoneal	Enrichment	ACTA1	2.34
125	Megacystis-microcolon-intestinal hypoperistalsis syndrome 5	Enrichment	ACTG2	2.34
126	Neurodevelopmental disorder with absent language and variable seizures	Enrichment	WASF1	2.34
127	Terminal osseous dysplasia	Enrichment	FLNA	2.34
128	Intellectual developmental disorder with macrocephaly, seizures, and speech delay	Enrichment	PAK1	2.34
129	Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia	Enrichment	ARPC1B	2.34
130	Fg syndrome 2	Enrichment	FLNA	2.34
131	Otopalatodigital syndrome spectrum disorder	Enrichment	FLNA	2.34
132	Visceral neuropathy, familial, 3, autosomal dominant	Enrichment	ACTG2	2.34
133	Congenital myopathy 2b, severe infantile, autosomal recessive	Enrichment	ACTA1	2.34
134	Autosomal dominant familial visceral neuropathy	Enrichment	ACTG2	2.34
135	Was-related disorders	Enrichment	WAS	2.34
136	X-linked ehlers-danlos syndrome	Enrichment	FLNA	2.34
137	Takenouchi-kosaki syndrome	Enrichment	CDC42	2.34
138	Congenital myopathy 2c, severe infantile, autosomal dominant	Enrichment	ACTA1	2.34
139	Zebra body myopathy	Enrichment	ACTA1	2.34
140	Nocarh syndrome	Enrichment	CDC42	2.34
141	X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome	Enrichment	FLNA	2.34
142	Actin-accumulation myopathy	Enrichment	ACTA1	2.34
143	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom	Enrichment	RAC1	2.34
144	Myopathic intestinal pseudoobstruction	Enrichment	ACTG2	2.34
145	Actg2 visceral myopathy	Enrichment	ACTG2	2.34
146	Ehlers-danlos syndrome	Enrichment	COL1A1, COL1A2	2.30
147	Hypomagnesemia 3, renal	Enrichment	CLDN16	2.29
148	Pseudo-torch syndrome 1	Enrichment	OCLN	2.29
149	Cleft lip/palate-ectodermal dysplasia syndrome	Enrichment	NECTIN1	2.29
150	Lipodystrophy, congenital generalized, type 3	Enrichment	CAV1	2.29
151	Deafness, autosomal dominant 51	Enrichment	TJP2	2.29
152	Pulmonary hypertension, primary, 3	Enrichment	CAV1	2.29
153	Pseudohypoaldosteronism, type iib	Enrichment	WNK4	2.29
154	Ectodermal dysplasia 17 with or without limb malformations	Enrichment	LEF1	2.29
155	Basal ganglia calcification, idiopathic, 8, autosomal recessive	Enrichment	JAM2	2.29
156	Azoospermia, obstructive, with nephrolithiasis	Enrichment	CLDN2	2.29
157	Orofacial cleft 7	Enrichment	NECTIN1	2.29
158	Lipodystrophy, familial partial, type 7	Enrichment	CAV1	2.29
159	Hemorrhagic destruction of the brain, subependymal calcification, and cataracts	Enrichment	JAM3	2.29
160	Leukodystrophy, hypomyelinating, 22	Enrichment	CLDN11	2.29
161	Primary hypomagnesemia	Enrichment	CLDN16	2.29
162	Sirenomelia	Enrichment	CDX2	2.29
163	Anorectal malformation	Enrichment	CDX2	2.29
164	Porencephaly-microcephaly-bilateral congenital cataract syndrome	Enrichment	JAM3	2.29
165	Focal segmental glomerulosclerosis	Enrichment	COL4A4, COL4A5	2.26
166	Stickler syndrome, type i	Enrichment	COL2A1	2.25
167	Proteus syndrome	Enrichment	AKT1	2.25
168	Epiphyseal dysplasia, multiple, with myopia and conductive deafness	Enrichment	COL2A1	2.25
169	Hypoinsulinemic hypoglycemia with hemihypertrophy	Enrichment	AKT2	2.25
170	Ehlers-danlos syndrome, cardiac valvular type	Enrichment	COL1A2	2.25
171	Spondylometaphyseal dysplasia, algerian type	Enrichment	COL2A1	2.25
172	Alport syndrome 1, x-linked	Enrichment	COL4A5	2.25
173	Focal segmental glomerulosclerosis 1	Enrichment	ACTN4	2.25
174	Osteoarthritis with mild chondrodysplasia	Enrichment	COL2A1	2.25
175	Avascular necrosis of femoral head, primary, 1	Enrichment	COL2A1	2.25
176	Noonan syndrome 5	Enrichment	RAF1	2.25
177	Czech dysplasia	Enrichment	COL2A1	2.25
178	Noonan syndrome 4	Enrichment	SOS1	2.25
179	Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction	Enrichment	ACTN2	2.25
180	Melorheostosis, isolated	Enrichment	MAP2K1	2.25
181	Kniest dysplasia	Enrichment	COL2A1	2.25
182	Platyspondylic lethal skeletal dysplasia, torrance type	Enrichment	COL2A1	2.25
183	Cardiomyopathy, dilated, 1nn	Enrichment	RAF1	2.25
184	Cardiofaciocutaneous syndrome 3	Enrichment	MAP2K1	2.25
185	Noonan syndrome 9	Enrichment	SOS2	2.25
186	Spondyloepiphyseal dysplasia, stanescu type	Enrichment	COL2A1	2.25
187	Lissencephaly 5	Enrichment	LAMB1	2.25
188	Achondrogenesis, type ii	Enrichment	COL2A1	2.25
189	Noonan syndrome 13	Enrichment	MAPK1	2.25
190	Deafness, x-linked 6	Enrichment	COL4A6	2.25
191	Congenital myopathy 8	Enrichment	ACTN2	2.25
192	Combined osteogenesis imperfecta and ehlers-danlos syndrome 2	Enrichment	COL1A2	2.25
193	Spondyloperipheral dysplasia	Enrichment	COL2A1	2.25
194	Porencephaly	Enrichment	COL4A1	2.25
195	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	Enrichment	AKT3	2.25
196	Cardiomyopathy, dilated, 1w	Enrichment	VCL	2.25
197	Actn3 deficiency	Enrichment	ACTN3	2.25
198	Melorheostosis	Enrichment	MAP2K1	2.25
199	Stickler syndrome, type i, nonsyndromic ocular	Enrichment	COL2A1	2.25
200	Leopard syndrome 2	Enrichment	RAF1	2.25
201	Cardiomyopathy, familial hypertrophic, 15	Enrichment	VCL	2.25
202	Cardiofaciocutaneous syndrome 4	Enrichment	MAP2K2	2.25
203	Cowden syndrome 6	Enrichment	AKT1	2.25
204	Bleeding disorder, platelet-type, 15	Enrichment	ACTN1	2.25
205	Thrombocytopenia 6	Enrichment	SRC	2.25
206	Myopathy, distal, 6, adult-onset, autosomal dominant	Enrichment	ACTN2	2.25
207	Intellectual developmental disorder, autosomal dominant 63, with macrocephaly	Enrichment	TRIO	2.25
208	Trigonitis	Enrichment	RAF1	2.25
209	Vitreoretinopathy with phalangeal epiphyseal dysplasia	Enrichment	COL2A1	2.25
210	Asphyxia neonatorum	Enrichment	COL1A1	2.25
211	Adenoid ameloblastoma	Enrichment	CTNNB1	2.25
212	Col4a1-related disorders	Enrichment	COL4A1	2.25
213	Capillary hemangioma	Enrichment	AKT3	2.25
214	Autosomal dominant rhegmatogenous retinal detachment	Enrichment	COL2A1	2.25
215	Fetomaternal alloimmune thrombocytopenia 3	Enrichment	ITGA2	2.25
216	Col4a1 or col4a2-related cerebral small vessel disease	Enrichment	COL4A1	2.25
217	Multiple epiphyseal dysplasia with myopia and deafness	Enrichment	COL2A1	2.25
218	Immune dysregulation, neurodevelopmental defects, and colitis	Enrichment	ITGAV	2.25
219	Hypochondrogenesis	Enrichment	COL2A1	2.25
220	Capillary leak syndrome	Enrichment	TLN1	2.25
221	X-linked alport syndrome	Enrichment	COL4A5	2.25
222	Dysspondyloenchondromatosis	Enrichment	COL2A1	2.25
223	Phakomatosis pigmentokeratotica	Enrichment	HRAS	2.25
224	Type 2 collagen-related bone disorder	Enrichment	COL2A1	2.25
225	Microcystic stromal tumor	Enrichment	CTNNB1	2.25
226	Akt2-related familial partial lipodystrophy	Enrichment	AKT2	2.25
227	Temporomandibular joint anomaly	Enrichment	DOCK1	2.16
228	Differentiated thyroid carcinoma	Enrichment	NTRK1, NTRK3	2.14
229	Brittle bone disorder	Enrichment	COL1A1, COL1A2	2.14
230	Aortic aneurysm, familial thoracic 4	Enrichment	MYH11	2.05
231	Arthrogryposis, distal, type 2a	Enrichment	MYH3	2.05
232	Insensitivity to pain, congenital, with anhidrosis	Enrichment	NTRK1	2.05
233	Ebstein anomaly	Enrichment	MYH7	2.05
234	Cataract 35	Enrichment	MYH9	2.05
235	Alzheimer disease 3	Enrichment	PSEN1	2.05
236	Pick disease of brain	Enrichment	PSEN1	2.05
237	Arthrogryposis, distal, type 7	Enrichment	MYH8	2.05
238	Deafness, autosomal dominant 20	Enrichment	ACTG1	2.05
239	Baraitser-winter syndrome 2	Enrichment	ACTG1	2.05
240	Pain sensitivity quantitative trait locus 1	Enrichment	NTRK1	2.05
241	Arthrogryposis, distal, type 2b3	Enrichment	MYH3	2.05
242	Megacystis-microcolon-intestinal hypoperistalsis syndrome 2	Enrichment	MYH11	2.05
243	Genitourinary and/or brain malformation syndrome	Enrichment	PPP1R12A	2.05
244	Atrial septal defect 3	Enrichment	MYH6	2.05
245	Noonan syndrome-like disorder with loose anagen hair	Enrichment	PPP1CB	2.05
246	Cardiomyopathy, familial hypertrophic, 10	Enrichment	MYL2	2.05
247	Congenital mesoblastic nephroma	Enrichment	NTRK3	2.05
248	Inflammatory skin and bowel disease, neonatal, 1	Enrichment	ADAM17	2.05
249	Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome	Enrichment	MYH2	2.05
250	Pseudosarcomatous fibromatosis	Enrichment	MYH9	2.05
251	Fibrosarcoma	Enrichment	NTRK3	2.05
252	Visceral myopathy 2	Enrichment	MYH11	2.05
253	Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy	Enrichment	MYL2	2.05
254	Arthrogryposis, distal, type 1c	Enrichment	MYL11	2.05
255	Megacystis-microcolon-intestinal hypoperistalsis syndrome 4	Enrichment	MYL9	2.05
256	Childhood-onset autosomal recessive myopathy with external ophthalmoplegia	Enrichment	MYH2	2.05
257	Carney complex - trismus - pseudocamptodactyly syndrome	Enrichment	MYH8	2.05
258	Visceral neuropathy, familial, 1, autosomal recessive	Enrichment	FLNA	2.04
259	Neutropenia, severe congenital, x-linked	Enrichment	WAS	2.04
260	Otopalatodigital syndrome, type ii	Enrichment	FLNA	2.04
261	Melnick-needles syndrome	Enrichment	FLNA	2.04
262	Wiskott-aldrich syndrome	Enrichment	WAS	2.04
263	Frontometaphyseal dysplasia 1	Enrichment	FLNA	2.04
264	Aortic aneurysm, familial thoracic 2	Enrichment	ACTA2	2.04
265	Cardiomyopathy, dilated, 1r	Enrichment	ACTC1	2.04
266	Cardiomyopathy, familial hypertrophic, 11	Enrichment	ACTC1	2.04
267	Smooth muscle dysfunction syndrome	Enrichment	ACTA2	2.04
268	Aortic aneurysm, familial thoracic 6	Enrichment	ACTA2	2.04
269	Moyamoya disease 5	Enrichment	ACTA2	2.04
270	Atrial septal defect 5	Enrichment	ACTC1	2.04
271	Intellectual developmental disorder, autosomal dominant 48	Enrichment	RAC1	2.04
272	Developmental delay, language impairment, and ocular abnormalities	Enrichment	ARPC4	2.04
273	Cardiac valvular dysplasia, x-linked	Enrichment	FLNA	2.04
274	Immunodeficiency 113 with autoimmunity and autoinflammation	Enrichment	ARPC5	2.04
275	Immune system disease	Enrichment	CDC42	2.04
276	Immunodeficiency 133	Enrichment	ARPC5	2.04
277	Intestinal obstruction	Enrichment	ACTG2	2.04
278	Ectrodactyly and ectodermal dysplasia without cleft lip/palate	Enrichment	LEF1	1.99
279	Cholestasis, progressive familial intrahepatic, 4	Enrichment	TJP2	1.99
280	Split hand-foot malformation	Enrichment	LEF1	1.99
281	Choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction	Enrichment	NKX2-1	1.99
282	Deafness, autosomal recessive 29	Enrichment	CLDN14	1.99
283	Nkx2-1-related disorders	Enrichment	NKX2-1	1.99
284	Non-syndromic genetic deafness	Enrichment	ACTG1, MYH14	1.96
285	Left ventricular noncompaction	Enrichment	ACTC1, MYH7	1.95
286	Epiphyseal dysplasia, multiple, 1	Enrichment	COL1A1	1.95
287	Fibromatosis, gingival, 1	Enrichment	SOS1	1.95
288	Costello syndrome	Enrichment	HRAS	1.95
289	Bruck syndrome 1	Enrichment	COL1A2	1.95
290	Otospondylomegaepiphyseal dysplasia, autosomal recessive	Enrichment	COL2A1	1.95
291	Osteopathia striata with cranial sclerosis	Enrichment	CTNNB1	1.95
292	Dermatofibrosarcoma protuberans	Enrichment	COL1A1	1.95
293	Pulmonic stenosis	Enrichment	SOS1	1.95
294	Lethal congenital contracture syndrome 3	Enrichment	PIP5K1C	1.95
295	Legg-calve-perthes disease	Enrichment	COL2A1	1.95
296	Deafness, autosomal recessive 28	Enrichment	TRIO	1.95
297	Lissencephaly 1	Enrichment	LAMB1	1.95
298	Specific language impairment 5	Enrichment	COL4A4	1.95
299	Otospondylomegaepiphyseal dysplasia, autosomal dominant	Enrichment	COL2A1	1.95
300	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1	Enrichment	COL4A2	1.95
301	Combined osteogenesis imperfecta and ehlers-danlos syndrome 1	Enrichment	COL1A1	1.95
302	Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome	Enrichment	ITGA3	1.95
303	Childhood hepatocellular carcinoma	Enrichment	CTNNB1	1.95
304	Senior-loken syndrome 7	Enrichment	AKT3	1.95
305	Glomerulonephritis	Enrichment	COL4A4	1.95
306	Stickler syndrome, type ii	Enrichment	COL1A1	1.95
307	Familial avascular necrosis of the femoral head	Enrichment	COL2A1	1.95
308	Bardet-biedl syndrome 16	Enrichment	AKT3	1.95
309	Juvenile nasopharyngeal angiofibroma	Enrichment	CTNNB1	1.95
310	Dentinogenesis imperfecta	Enrichment	COL1A2	1.95
311	Teratoma	Enrichment	CTNNB1	1.95
312	Tafro syndrome	Enrichment	MAP2K2	1.95
313	Wooly hair nevus	Enrichment	HRAS	1.95
314	Bladder cancer	Enrichment	CTNNB1, HRAS	1.94
315	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	Enrichment	MYH9	1.88
316	Thyroid carcinoma, familial medullary	Enrichment	NTRK1	1.88
317	Spondylocarpotarsal synostosis syndrome	Enrichment	MYH3	1.88
318	Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy	Enrichment	MYH15	1.88
319	Qualitative or quantitative defects of beta-myosin heavy chain	Enrichment	MYH7	1.88
320	Idiopathic camptocormia	Enrichment	MYH7	1.88
321	Neonatal inflammatory skin and bowel disease	Enrichment	ADAM17	1.88
322	Tricuspid valve insufficiency	Enrichment	MYH11	1.88
323	Prune belly syndrome	Enrichment	FLNA	1.86
324	Arterial tortuosity syndrome	Enrichment	FLNA	1.86
325	Periventricular nodular heterotopia 1	Enrichment	FLNA	1.86
326	Aortic aneurysm, familial thoracic 7	Enrichment	MYLK	1.86
327	Congenital short bowel syndrome	Enrichment	FLNA	1.86
328	Frontometaphyseal dysplasia	Enrichment	FLNA	1.86
329	Nonsyndromic hearing loss	Enrichment	ACTG1, MYH14	1.83
330	Hypercholanemia, familial 1	Enrichment	TJP2	1.82
331	Thrombocytopenia 5	Enrichment	CLDN16	1.82
332	Cakut	Enrichment	ACTG1, COL4A1	1.81
333	Genetic steroid-resistant nephrotic syndrome	Enrichment	ACTN4, COL4A3	1.81
334	Desmoid disease, hereditary	Enrichment	CTNNB1	1.78
335	Hyper-ige syndrome 1, autosomal dominant, with recurrent infections	Enrichment	ITGB3	1.78
336	Mccune-albright syndrome	Enrichment	COL2A1	1.78
337	Retinal arteries, tortuosity of	Enrichment	COL4A1	1.78
338	Spondyloepiphyseal dysplasia congenita	Enrichment	COL2A1	1.78
339	Bleeding disorder, platelet-type, 16	Enrichment	ITGB3	1.78
340	Glomerulopathy with fibronectin deposits 2	Enrichment	FN1	1.78
341	Nuchal bleb, familial	Enrichment	SOS1	1.78
342	Langerhans cell histiocytosis	Enrichment	MAP2K1	1.78
343	Neurodevelopmental disorder with spastic diplegia and visual defects	Enrichment	CTNNB1	1.78
344	Caffey disease	Enrichment	COL1A1	1.78
345	Brain small vessel disease 2	Enrichment	COL4A2	1.78
346	Anus, imperforate	Enrichment	CTNNB1	1.78
347	Microangiopathy and leukoencephalopathy, pontine, autosomal dominant	Enrichment	COL4A1	1.78
348	Exudative vitreoretinopathy 7	Enrichment	CTNNB1	1.78
349	Pilarowski-bjornsson syndrome	Enrichment	COL4A3	1.78
350	Alport syndrome 3b, autosomal recessive	Enrichment	COL4A3	1.78
351	Large congenital melanocytic nevus	Enrichment	HRAS	1.78
352	Desmoid tumor	Enrichment	CTNNB1	1.78
353	Poretti-boltshauser syndrome	Enrichment	LAMA1	1.78
354	Intellectual developmental disorder, autosomal dominant 44, with microcephaly	Enrichment	TRIO	1.78
355	Intrinsic cardiomyopathy	Enrichment	ACTN2	1.78
356	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps	Enrichment	COL4A1	1.78
357	Hematuria, benign familial, 2	Enrichment	COL4A3	1.78
358	Spermatocytoma	Enrichment	HRAS	1.78
359	Bleeding disorder, platelet-type, 24	Enrichment	ITGB3	1.78
360	Multiple epiphyseal dysplasia	Enrichment	COL2A1	1.78
361	Rare genetic deafness	Enrichment	ACTG1, COL4A5, MYH9	1.77
362	Myopathy, distal, 1	Enrichment	MYH7	1.76
363	Congenital myopathy 7b, myosin storage, autosomal recessive	Enrichment	MYH7	1.76
364	Carney complex variant	Enrichment	MYH8	1.76
365	Congenital myopathy 7a, myosin storage, autosomal dominant	Enrichment	MYH7	1.76
366	Congenital myopathy 6 with ophthalmoplegia	Enrichment	MYH2	1.76
367	Aminoacylase 1 deficiency	Enrichment	ACTB	1.76
368	Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1b	Enrichment	MYH3	1.76
369	Dowling-degos disease	Enrichment	PSENEN	1.76
370	Hyaline body myopathy	Enrichment	MYH7	1.76
371	Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)	Enrichment	MYH11	1.76
372	Mitral valve insufficiency	Enrichment	MYH11	1.76
373	Glioma	Enrichment	NTRK3	1.76
374	Familial sick sinus syndrome	Enrichment	MYH6	1.76
375	Pseudomyogenic hemangioendothelioma	Enrichment	ACTB	1.76
376	Nemaline myopathy 2	Enrichment	ACTA1	1.74
377	Autoimmune lymphoproliferative syndrome	Enrichment	ACTA2	1.74
378	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	Enrichment	CDC42	1.74
379	Intermediate nemaline myopathy	Enrichment	ACTA1	1.74
380	Cerebral palsy	Enrichment	COL4A1, COL4A2	1.70
381	Chorea, benign hereditary	Enrichment	NKX2-1	1.69
382	Thyroid cancer, nonmedullary, 1	Enrichment	NKX2-1	1.69
383	Hereditary ataxia	Enrichment	NKX2-1	1.69
384	Hydrocephalus, congenital, 2, with or without brain or eye anomalies	Enrichment	MPDZ	1.69
385	Cleft lip and alveolus	Enrichment	NECTIN1	1.69
386	Muscular dystrophy, congenital, due to integrin alpha-7 deficiency	Enrichment	ITGA7	1.69
387	Body mass index quantitative trait locus 11	Enrichment	BDNF, MYH9	1.69
388	Arthrogryposis, distal, type 2b1	Enrichment	MYH3	1.66
389	Deafness, autosomal recessive 63	Enrichment	MYH9	1.66
390	Congenital ptosis	Enrichment	MYH10	1.66
391	Dementia	Enrichment	PSEN1	1.66
392	Coloboma of choroid and retina	Enrichment	ACTG1	1.66
393	Schimmelpenning-feuerstein-mims syndrome	Enrichment	HRAS	1.65
394	Phenylketonuria	Enrichment	COL1A1	1.65
395	Schizencephaly	Enrichment	COL4A1	1.65
396	Neurofibromatosis-noonan syndrome	Enrichment	MAP2K2	1.65
397	Megalencephaly-capillary malformation-polymicrogyria syndrome	Enrichment	AKT3	1.65
398	Chromosome 22q11.2 deletion syndrome, distal	Enrichment	MAPK1	1.65
399	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Enrichment	AKT3	1.65
400	Pilomatrixoma	Enrichment	CTNNB1	1.65
401	Alazami syndrome	Enrichment	CTNNB1	1.65
402	Mantle cell lymphoma	Enrichment	CCND1	1.65
403	Craniopharyngioma	Enrichment	CTNNB1	1.65
404	Noonan syndrome with multiple lentigines	Enrichment	RAF1	1.65
405	Epidermolytic nevus	Enrichment	HRAS	1.65
406	Rare x-linked non-syndromic sensorineural deafness type dfn	Enrichment	COL4A6	1.65
407	Gingival fibromatosis	Enrichment	SOS1	1.65
408	Male infertility due to gonadal dysgenesis or sperm disorder	Enrichment	SOS2	1.65
409	Severe congenital nemaline myopathy	Enrichment	ACTA1	1.64
410	Type 2 diabetes mellitus	Enrichment	AKT2, TCF7L2	1.64
411	Cleft upper lip	Enrichment	NECTIN1	1.60
412	Diffuse cutaneous systemic sclerosis	Enrichment	CAV1	1.60
413	Undetermined early-onset epileptic encephalopathy	Enrichment	LIMK1, NTRK2	1.59
414	Telangiectasia, hereditary hemorrhagic, type 1	Enrichment	PSEN1	1.58
415	Hemihyperplasia, isolated	Enrichment	RHOA	1.58
416	Wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndrome	Enrichment	BDNF	1.58
417	Hemangioma, capillary infantile	Enrichment	MYH9	1.58
418	Inherited arrhythmogenic cardiomyopathy	Enrichment	MYH7	1.58
419	Moyamoya disease 1	Enrichment	ACTA2	1.57
420	Patent ductus arteriosus	Enrichment	FLNA	1.57
421	Retinal detachment	Enrichment	COL2A1	1.56
422	Exudative vitreoretinopathy 1	Enrichment	CTNNB1	1.56
423	Von hippel-lindau syndrome	Enrichment	CCND1	1.56
424	Glanzmann thrombasthenia 2	Enrichment	ITGB3	1.56
425	Hemimegalencephaly	Enrichment	AKT3	1.56
426	Branchiootorenal syndrome 1	Enrichment	TJP2	1.52
427	Split-hand/foot malformation 1	Enrichment	LEF1	1.52
428	Limited scleroderma	Enrichment	CAV1	1.52
429	Familial hypercholanemia	Enrichment	TJP2	1.52
430	Semantic dementia	Enrichment	PSEN1	1.51
431	Pilomyxoid astrocytoma	Enrichment	NTRK2	1.51
432	Familial isolated restrictive cardiomyopathy	Enrichment	MYL2	1.51
433	Childhood-onset nemaline myopathy	Enrichment	ACTA1	1.50
434	Developmental dysplasia of the hip 1	Enrichment	COL2A1	1.48
435	Weyers acrofacial dysostosis	Enrichment	CTNNB1	1.48
436	Adrenocortical carcinoma	Enrichment	CTNNB1	1.48
437	Breast adenocarcinoma	Enrichment	AKT1	1.48
438	Martsolf syndrome 1	Enrichment	ARHGAP35	1.47
439	Arthrogryposis, distal, type 1a	Enrichment	MYH3	1.46
440	Myocarditis	Enrichment	MYH7	1.46
441	Hypoplastic left heart syndrome	Enrichment	MYH6	1.46
442	Hypothyroidism, congenital, nongoitrous, 2	Enrichment	NKX2-1	1.45
443	Branchiootorenal syndrome	Enrichment	TJP2	1.45
444	Congenital hydrocephalus	Enrichment	MPDZ	1.45
445	Fanconi anemia, complementation group c	Enrichment	FLNA	1.44
446	Nevus, epidermal	Enrichment	HRAS	1.41
447	Thyroid cancer, nonmedullary, 2	Enrichment	HRAS	1.41
448	Myelofibrosis	Enrichment	SRC	1.41
449	Glanzmann thrombasthenia 1	Enrichment	ITGB3	1.41
450	Capillary malformation-arteriovenous malformation 1	Enrichment	MAP2K1	1.41
451	Multiple enchondromatosis, maffucci type	Enrichment	COL2A1	1.41
452	Gallbladder cancer	Enrichment	CTNNB1	1.41
453	Megacolon	Enrichment	AKT3	1.41
454	Follicular thyroid carcinoma	Enrichment	HRAS	1.41
455	Cardiomyopathy, familial hypertrophic, 4	Enrichment	MYH7	1.41
456	Congenital central hypoventilation syndrome	Enrichment	BDNF	1.41
457	Progressive non-fluent aphasia	Enrichment	PSEN1	1.41
458	Familial isolated arrhythmogenic right ventricular dysplasia	Enrichment	MYH7	1.41
459	Behavioral variant of frontotemporal dementia	Enrichment	PSEN1	1.41
460	Basal ganglia calcification, idiopathic, 1	Enrichment	JAM2	1.40
461	Perrault syndrome	Enrichment	CLDN14	1.40
462	Choreatic disease	Enrichment	NKX2-1	1.40
463	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	Enrichment	RAC1	1.39
464	Deafness, autosomal recessive	Enrichment	CLDN14, MYH9	1.39
465	Autosomal recessive nonsyndromic deafness	Enrichment	CLDN14, MYH9	1.38
466	Cat eye syndrome	Enrichment	ACTG1	1.36
467	Renal hypodysplasia/aplasia 1	Enrichment	ITGA8	1.36
468	Exudative vitreoretinopathy	Enrichment	CTNNB1	1.36
469	Nemaline myopathy	Enrichment	ACTA1	1.35
470	Primary biliary cholangitis	Enrichment	TJP2	1.35
471	Frontotemporal dementia 1	Enrichment	PSEN1	1.32
472	Combined immunodeficiency	Enrichment	ARPC1B	1.31
473	Combined t cell and b cell immunodeficiency	Enrichment	ARPC1B	1.31
474	Combined t and b cell immunodeficiency	Enrichment	ARPC1B	1.31
475	Adult hepatocellular carcinoma	Enrichment	CTNNB1	1.31
476	Cowden syndrome	Enrichment	AKT1	1.31
477	Renal agenesis, bilateral	Enrichment	ITGA8	1.31
478	Hypertelorism	Enrichment	COL1A1, MYH10	1.31
479	Restrictive cardiomyopathy	Enrichment	MYH7	1.29
480	Heritable pulmonary arterial hypertension	Enrichment	CAV1	1.26
481	Marfan syndrome	Enrichment	COL2A1	1.26
482	Leukemia, chronic lymphocytic	Enrichment	CCND1	1.26
483	Stickler syndrome	Enrichment	COL2A1	1.26
484	Polymicrogyria	Enrichment	AKT3	1.26
485	Microphthalmia/coloboma 12	Enrichment	MYH10	1.25
486	Alzheimer's disease	Enrichment	PSEN1	1.25
487	Specific learning disability	Enrichment	MAPK1	1.22
488	Heart disease	Enrichment	MYL2	1.22
489	Lung cancer susceptibility 3	Enrichment	ACTA2	1.21
490	Periventricular nodular heterotopia	Enrichment	FLNA	1.21
491	Neural tube defects	Enrichment	ITGB1	1.19
492	Coloboma of macula	Enrichment	MYH10	1.19
493	Meningioma	Enrichment	AKT1	1.19
494	Lip and oral cavity carcinoma	Enrichment	HRAS	1.19
495	Breast cancer	Enrichment	AKT1, JUN	1.18
496	Wolff-parkinson-white syndrome	Enrichment	MYH7	1.16
497	Cleft lip/palate	Enrichment	NECTIN1	1.16
498	Aortic valve disease 1	Enrichment	SOS1	1.15
499	Alzheimer disease, familial, 1	Enrichment	PSEN1	1.14
500	Dandy-walker syndrome	Enrichment	PPP1CB	1.14
501	Cleft palate, isolated	Enrichment	FLNA	1.13
502	Rare autosomal recessive non-syndromic sensorineural deafness type dfnb	Enrichment	CLDN14, MYH9	1.12
503	Multiple sclerosis	Enrichment	LAMB1	1.12
504	Medulloblastoma	Enrichment	CTNNB1	1.12
505	Walker-warburg syndrome	Enrichment	COL4A1	1.12
506	46,xy partial gonadal dysgenesis	Enrichment	SOS1	1.12
507	Isolated macular dystrophy	Enrichment	COL4A5	1.12
508	Isolated congenital microcephaly	Enrichment	OCLN	1.11
509	Corpus callosum, agenesis of	Enrichment	COL4A1	1.09
510	Anterior segment dysgenesis	Enrichment	COL4A1	1.09
511	Atypical hemolytic-uremic syndrome	Enrichment	COL4A5	1.09
512	Isolated corpus callosum agenesis	Enrichment	COL4A1	1.09
513	Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome	Enrichment	COL4A1	1.09
514	Williams-beuren syndrome	Enrichment	LIMK1	1.07
515	Arrhythmogenic right ventricular cardiomyopathy	Enrichment	ACTN2	1.07
516	Rhabdomyosarcoma	Enrichment	HRAS	1.07
517	Lissencephaly	Enrichment	ACTG1	1.05
518	Polycystic liver disease	Enrichment	CTNNB1	1.04
519	Syndromic intellectual disability	Enrichment	TRIO	1.04
520	Autosomal dominant polycystic liver disease	Enrichment	CTNNB1	1.04
521	Skin disease	Enrichment	NCSTN	1.03
522	Polycystic kidney disease	Enrichment	COL4A4	1.02
523	Familial atrial fibrillation	Enrichment	MYL4	1.00
524	Ovarian cancer	Enrichment	AKT1, CTNNB1	0.96
525	Complex neurodevelopmental disorder	Enrichment	MYH10, WASF1	0.96
526	Hepatoblastoma	Enrichment	CTNNB1	0.95
527	Hydrops fetalis, nonimmune	Enrichment	ACTA1	0.95
528	Hepatocellular carcinoma	Enrichment	CTNNB1	0.93
529	Myocardial infarction	Enrichment	ITGB3	0.93
530	Scoliosis	Enrichment	COL2A1	0.90
531	Long qt syndrome	Enrichment	MYH6	0.89
532	Peripheral nervous system disease	Enrichment	NGF	0.88
533	Neuropathy	Enrichment	NGF	0.88
534	Non-immune hydrops fetalis	Enrichment	ACTA1	0.88
535	Lung cancer	Enrichment	ACTA2	0.86
536	Connective tissue disease	Enrichment	ACTA2	0.86
537	Severe covid-19	Enrichment	ITGAV	0.82
538	Stargardt disease 1	Enrichment	COL2A1	0.81
539	Fetal akinesia deformation sequence 1	Enrichment	ACTA1	0.81
540	Male infertility	Enrichment	CLDN2	0.80
541	West syndrome	Enrichment	NTRK2	0.75
542	Sensorineural hearing loss	Enrichment	CLDN14	0.66
543	Hereditary breast carcinoma	Enrichment	AKT1	0.66
544	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	Enrichment	PSEN1	0.64
545	Schizophrenia	Enrichment	RTN4R	0.64
546	Primary ovarian insufficiency	Enrichment	NTRK1	0.64
547	Myeloma, multiple	Enrichment	NKX2-1	0.60
548	Autism	Enrichment	TCF7L2	0.51
549	Hereditary breast ovarian cancer syndrome	Enrichment	BCAR1	0.50
550	Congenital nervous system abnormality	Enrichment	PSEN1	0.42
551	Nervous system disease	Enrichment	PSEN1	0.42
552	Autism spectrum disorder	Enrichment	MAP2K1	0.34
553	Hereditary retinal dystrophy	Enrichment	COL2A1, LAMA1	0.31
554	Fundus dystrophy	Enrichment	COL2A1, LAMA1	0.31

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

Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases

Pathway Network for Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases

Pathway network for the Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases SuperPath

Member Pathways for Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases

Pathways in the Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases SuperPath

Gene overlap in member pathways for Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases SuperPath

Associated Genes for Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases

Associated Disorders for Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases

Disorders associated with Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases SuperPath

STRING Interaction Network for Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases

Sources for Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases