Focal adhesion

No Pathway Network information available for Focal adhesion

Pathways in the Focal adhesion SuperPath

#	Name	Source	Genes
1	Focal adhesion	WikiPathways	ACTB ACTG1 ACTN1 ACTN4 AKT1 AKT2 AKT3 ARHGAP35 ARHGAP5 BAD BCAR1 BCL2 BIRC2 BIRC3 BLK BRAF CAPN2 CAV1 CAV2 CAV3 CCND1 CCND2 CCND3 CDC42 CHAD COL1A1 COL1A2 COL2A1 COL4A1 COL4A2 COL4A4 COL4A6 COL5A2 COL5A3 COL6A2 COMP CRK CRKL CTNNB1 DIAPH1 DOCK1 EGF EGFR ELK1 EMP2 ERBB2 FGR FLNA FLNB FLNC FLT1 FN1 FYN GRB2 GSK3B HCK HGF HRAS IBSP IGF1 IGF1R ILK ITGA1 ITGA10 ITGA11 ITGA2 ITGA2B ITGA3 ITGA4 ITGA5 ITGA6 ITGA7 ITGA8 ITGA9 ITGAV ITGB1 ITGB3 ITGB4 ITGB5 ITGB6 ITGB7 ITGB8 JUN KDR LAMA1 LAMA2 LAMA3 LAMA4 LAMA5 LAMB1 LAMB2 LAMB3 LAMC1 LAMC2 LAMC3 MAP2K1 MAPK1 MAPK10 MAPK3 MAPK8 MAPK9 MET MYL10 MYL11 MYL12A MYL12B MYL2 MYL5 MYL7 MYL9 MYLK MYLK2 MYLK3 MYLK4 PAK1 PAK2 PAK3 PAK4 PAK6 PARVA PARVB PARVG PDGFA PDGFB PDGFC PDGFD PDGFRA PDGFRB PDPK1 PGF PIK3CA PIK3CB PIK3CD PIK3R1 PIK3R2 PIK3R3 PIP5K1C PPP1CA PPP1CB PPP1CC PPP1R12A PPP1R12B PPP1R12C PRKCA PRKCB PRKCG PTEN PTK2 PTK6 PXN RAC1 RAC2 RAC3 RAF1 RAP1A RAP1B RAPGEF1 RASGRF1 RELN RHOA ROCK1 ROCK2 SHC1 SHC2 SHC3 SHC4 SOS1 SPP1 SRC SRMS STYK1 TESK2 THBS1 THBS2 THBS3 THBS4 TLN1 TLN2 TNC TNK1 TNK2 TNN TNR TNXB TXK VASP VAV1 VAV2 VAV3 VCL VEGFA VEGFB VEGFC VEGFD VTN VWF XIAP ZYX (see all 198) (see less)

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

#	Symbol	Description	Category	# Related Pathways
1	RAP1B	RAP1B, Member Of RAS Oncogene Family	Protein Coding	1
2	RAP1A	RAP1A, Member Of RAS Oncogene Family	Protein Coding	1
3	CDC42	Cell Division Cycle 42	Protein Coding	1
4	BCAR1	BCAR1 Scaffold Protein, Cas Family Member	Protein Coding	1
5	ROCK2	Rho Associated Coiled-Coil Containing Protein Kinase 2	Protein Coding	1
6	CCND3	Cyclin D3	Protein Coding	1
7	CCND2	Cyclin D2	Protein Coding	1
8	ACTN1	Actinin Alpha 1	Protein Coding	1
9	CAV3	Caveolin 3	Protein Coding	1
10	CAV2	Caveolin 2	Protein Coding	1
11	CAV1	Caveolin 1	Protein Coding	1
12	MYLK2	Myosin Light Chain Kinase 2	Protein Coding	1
13	ITGA8	Integrin Subunit Alpha 8	Protein Coding	1
14	CAPN2	Calpain 2	Protein Coding	1
15	ACTN4	Actinin Alpha 4	Protein Coding	1
16	PDGFD	Platelet Derived Growth Factor D	Protein Coding	1
17	ZYX	Zyxin	Protein Coding	1
18	VWF	Von Willebrand Factor	Protein Coding	1
19	VTN	Vitronectin	Protein Coding	1
20	VEGFC	Vascular Endothelial Growth Factor C	Protein Coding	1
21	VEGFB	Vascular Endothelial Growth Factor B	Protein Coding	1
22	VEGFA	Vascular Endothelial Growth Factor A	Protein Coding	1
23	VCL	Vinculin	Protein Coding	1
24	VAV1	Vav Guanine Nucleotide Exchange Factor 1	Protein Coding	1
25	VASP	Vasodilator Stimulated Phosphoprotein	Protein Coding	1
26	TNXB	Tenascin XB	Protein Coding	1
27	TNR	Tenascin R	Protein Coding	1
28	ACTG1	Actin Gamma 1	Protein Coding	1
29	TLN1	Talin 1	Protein Coding	1
30	THBS2	Thrombospondin 2	Protein Coding	1
31	THBS1	Thrombospondin 1	Protein Coding	1
32	BRAF	B-Raf Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	1
33	SRMS	Src-Related Kinase Lacking C-Terminal Regulatory Tyrosine And N-Terminal Myristylation Sites	Protein Coding	1
34	SRC	SRC Proto-Oncogene, Non-Receptor Tyrosine Kinase	Protein Coding	1
35	SPP1	Secreted Phosphoprotein 1	Protein Coding	1
36	SOS1	SOS Ras/Rac Guanine Nucleotide Exchange Factor 1	Protein Coding	1
37	SHC1	SHC Adaptor Protein 1	Protein Coding	1
38	BLK	BLK Proto-Oncogene, Src Family Tyrosine Kinase	Protein Coding	1
39	ROCK1	Rho Associated Coiled-Coil Containing Protein Kinase 1	Protein Coding	1
40	ACTB	Actin Beta	Protein Coding	1
41	BCL2	BCL2 Apoptosis Regulator	Protein Coding	1
42	CCND1	Cyclin D1	Protein Coding	1
43	RASGRF1	Ras Protein Specific Guanine Nucleotide Releasing Factor 1	Protein Coding	1
44	RAF1	Raf-1 Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	1
45	RAC3	Rac Family Small GTPase 3	Protein Coding	1
46	RAC2	Rac Family Small GTPase 2	Protein Coding	1
47	RAC1	Rac Family Small GTPase 1	Protein Coding	1
48	MYL7	Myosin Light Chain 7	Protein Coding	1
49	PXN	Paxillin	Protein Coding	1
50	PTK2	Protein Tyrosine Kinase 2	Protein Coding	1
51	PTEN	Phosphatase And Tensin Homolog	Protein Coding	1
52	BAD	BCL2 Associated Agonist Of Cell Death	Protein Coding	1
53	PAK6	P21 (RAC1) Activated Kinase 6	Protein Coding	1
54	RELN	Reelin	Protein Coding	1
55	MAP2K1	Mitogen-Activated Protein Kinase Kinase 1	Protein Coding	1
56	PDGFC	Platelet Derived Growth Factor C	Protein Coding	1
57	MAPK10	Mitogen-Activated Protein Kinase 10	Protein Coding	1
58	MAPK9	Mitogen-Activated Protein Kinase 9	Protein Coding	1
59	MAPK8	Mitogen-Activated Protein Kinase 8	Protein Coding	1
60	MAPK3	Mitogen-Activated Protein Kinase 3	Protein Coding	1
61	MAPK1	Mitogen-Activated Protein Kinase 1	Protein Coding	1
62	PRKCG	Protein Kinase C Gamma	Protein Coding	1
63	PRKCB	Protein Kinase C Beta	Protein Coding	1
64	PRKCA	Protein Kinase C Alpha	Protein Coding	1
65	PARVA	Parvin Alpha	Protein Coding	1
66	PPP1CC	Protein Phosphatase 1 Catalytic Subunit Gamma	Protein Coding	1
67	PIK3R2	Phosphoinositide-3-Kinase Regulatory Subunit 2	Protein Coding	1
68	PIK3R1	Phosphoinositide-3-Kinase Regulatory Subunit 1	Protein Coding	1
69	PIK3CD	Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Delta	Protein Coding	1
70	PIK3CB	Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Beta	Protein Coding	1
71	PIK3CA	Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha	Protein Coding	1
72	PGF	Placental Growth Factor	Protein Coding	1
73	PDPK1	3-Phosphoinositide Dependent Protein Kinase 1	Protein Coding	1
74	PDGFRB	Platelet Derived Growth Factor Receptor Beta	Protein Coding	1
75	PDGFRA	Platelet Derived Growth Factor Receptor Alpha	Protein Coding	1
76	PDGFB	Platelet Derived Growth Factor Subunit B	Protein Coding	1
77	PDGFA	Platelet Derived Growth Factor Subunit A	Protein Coding	1
78	PAK3	P21 (RAC1) Activated Kinase 3	Protein Coding	1
79	PAK2	P21 (RAC1) Activated Kinase 2	Protein Coding	1
80	PAK1	P21 (RAC1) Activated Kinase 1	Protein Coding	1
81	COL5A3	Collagen Type V Alpha 3 Chain	Protein Coding	1
82	PPP1R12B	Protein Phosphatase 1 Regulatory Subunit 12B	Protein Coding	1
83	MYLK	Myosin Light Chain Kinase	Protein Coding	1
84	MYL2	Myosin Light Chain 2	Protein Coding	1
85	MET	MET Proto-Oncogene, Receptor Tyrosine Kinase	Protein Coding	1
86	ARHGAP5	Rho GTPase Activating Protein 5	Protein Coding	1
87	LAMC2	Laminin Subunit Gamma 2	Protein Coding	1
88	LAMC1	Laminin Subunit Gamma 1	Protein Coding	1
89	LAMB3	Laminin Subunit Beta 3	Protein Coding	1
90	LAMB2	Laminin Subunit Beta 2	Protein Coding	1
91	LAMB1	Laminin Subunit Beta 1	Protein Coding	1
92	LAMA4	Laminin Subunit Alpha 4	Protein Coding	1
93	LAMA3	Laminin Subunit Alpha 3	Protein Coding	1
94	LAMA2	Laminin Subunit Alpha 2	Protein Coding	1
95	RHOA	Ras Homolog Family Member A	Protein Coding	1
96	KDR	Kinase Insert Domain Receptor	Protein Coding	1
97	JUN	Jun Proto-Oncogene, AP-1 Transcription Factor Subunit	Protein Coding	1
98	ITGB8	Integrin Subunit Beta 8	Protein Coding	1
99	ITGB6	Integrin Subunit Beta 6	Protein Coding	1
100	ITGB5	Integrin Subunit Beta 5	Protein Coding	1
101	ITGB4	Integrin Subunit Beta 4	Protein Coding	1
102	ITGB3	Integrin Subunit Beta 3	Protein Coding	1
103	ITGB1	Integrin Subunit Beta 1	Protein Coding	1
104	ITGAV	Integrin Subunit Alpha V	Protein Coding	1
105	ITGA7	Integrin Subunit Alpha 7	Protein Coding	1
106	ITGA5	Integrin Subunit Alpha 5	Protein Coding	1
107	ITGA4	Integrin Subunit Alpha 4	Protein Coding	1
108	ITGA3	Integrin Subunit Alpha 3	Protein Coding	1
109	ITGA2B	Integrin Subunit Alpha 2b	Protein Coding	1
110	ITGA2	Integrin Subunit Alpha 2	Protein Coding	1
111	ITGA1	Integrin Subunit Alpha 1	Protein Coding	1
112	ITGA6	Integrin Subunit Alpha 6	Protein Coding	1
113	ILK	Integrin Linked Kinase	Protein Coding	1
114	IGF1R	Insulin Like Growth Factor 1 Receptor	Protein Coding	1
115	IGF1	Insulin Like Growth Factor 1	Protein Coding	1
116	IBSP	Integrin Binding Sialoprotein	Protein Coding	1
117	TNC	Tenascin C	Protein Coding	1
118	XIAP	X-Linked Inhibitor Of Apoptosis	Protein Coding	1
119	BIRC3	Baculoviral IAP Repeat Containing 3	Protein Coding	1
120	BIRC2	Baculoviral IAP Repeat Containing 2	Protein Coding	1
121	HRAS	HRas Proto-Oncogene, GTPase	Protein Coding	1
122	HGF	Hepatocyte Growth Factor	Protein Coding	1
123	HCK	HCK Proto-Oncogene, Src Family Tyrosine Kinase	Protein Coding	1
124	GSK3B	Glycogen Synthase Kinase 3 Beta	Protein Coding	1
125	ARHGAP35	Rho GTPase Activating Protein 35	Protein Coding	1
126	LAMA1	Laminin Subunit Alpha 1	Protein Coding	1
127	FYN	FYN Proto-Oncogene, Src Family Tyrosine Kinase	Protein Coding	1
128	PIP5K1C	Phosphatidylinositol-4-Phosphate 5-Kinase Type 1 Gamma	Protein Coding	1
129	FN1	Fibronectin 1	Protein Coding	1
130	FLT1	Fms Related Receptor Tyrosine Kinase 1	Protein Coding	1
131	FLNC	Filamin C	Protein Coding	1
132	FLNB	Filamin B	Protein Coding	1
133	FLNA	Filamin A	Protein Coding	1
134	VEGFD	Vascular Endothelial Growth Factor D	Protein Coding	1
135	FGR	FGR Proto-Oncogene, Src Family Tyrosine Kinase	Protein Coding	1
136	AKT2	AKT Serine/Threonine Kinase 2	Protein Coding	1
137	AKT1	AKT Serine/Threonine Kinase 1	Protein Coding	1
138	ERBB2	Erb-B2 Receptor Tyrosine Kinase 2	Protein Coding	1
139	EMP2	Epithelial Membrane Protein 2	Protein Coding	1
140	EGFR	Epidermal Growth Factor Receptor	Protein Coding	1
141	EGF	Epidermal Growth Factor	Protein Coding	1
142	DOCK1	Dedicator Of Cytokinesis 1	Protein Coding	1
143	DIAPH1	Diaphanous Related Formin 1	Protein Coding	1
144	CTNNB1	Catenin Beta 1	Protein Coding	1
145	CRKL	CRK Like Proto-Oncogene, Adaptor Protein	Protein Coding	1
146	CRK	CRK Proto-Oncogene, Adaptor Protein	Protein Coding	1
147	COMP	Cartilage Oligomeric Matrix Protein	Protein Coding	1
148	COL6A2	Collagen Type VI Alpha 2 Chain	Protein Coding	1
149	COL5A2	Collagen Type V Alpha 2 Chain	Protein Coding	1
150	COL4A6	Collagen Type IV Alpha 6 Chain	Protein Coding	1
151	COL4A4	Collagen Type IV Alpha 4 Chain	Protein Coding	1
152	COL4A2	Collagen Type IV Alpha 2 Chain	Protein Coding	1
153	COL4A1	Collagen Type IV Alpha 1 Chain	Protein Coding	1
154	COL2A1	Collagen Type II Alpha 1 Chain	Protein Coding	1
155	COL1A2	Collagen Type I Alpha 2 Chain	Protein Coding	1
156	COL1A1	Collagen Type I Alpha 1 Chain	Protein Coding	1
157	VAV3	Vav Guanine Nucleotide Exchange Factor 3	Protein Coding	1
158	MYL9	Myosin Light Chain 9	Protein Coding	1
159	LAMC3	Laminin Subunit Gamma 3	Protein Coding	1
160	PAK4	P21 (RAC1) Activated Kinase 4	Protein Coding	1
161	TNK2	Tyrosine Kinase Non Receptor 2	Protein Coding	1
162	AKT3	AKT Serine/Threonine Kinase 3	Protein Coding	1
163	MYL10	Myosin Light Chain 10	Protein Coding	1
164	TNK1	Tyrosine Kinase Non Receptor 1	Protein Coding	1
165	ITGA10	Integrin Subunit Alpha 10	Protein Coding	1
166	PIK3R3	Phosphoinositide-3-Kinase Regulatory Subunit 3	Protein Coding	1
167	CHAD	Chondroadherin	Protein Coding	1
168	MYL12A	Myosin Light Chain 12A	Protein Coding	1
169	TESK2	Testis Associated Actin Remodelling Kinase 2	Protein Coding	1
170	MYL12B	Myosin Light Chain 12B	Protein Coding	1
171	TLN2	Talin 2	Protein Coding	1
172	VAV2	Vav Guanine Nucleotide Exchange Factor 2	Protein Coding	1
173	TXK	TXK Tyrosine Kinase	Protein Coding	1
174	THBS4	Thrombospondin 4	Protein Coding	1
175	THBS3	Thrombospondin 3	Protein Coding	1
176	PARVG	Parvin Gamma	Protein Coding	1
177	TNN	Tenascin N	Protein Coding	1
178	PTK6	Protein Tyrosine Kinase 6	Protein Coding	1
179	STYK1	Serine/Threonine/Tyrosine Kinase 1	Protein Coding	1
180	PPP1CB	Protein Phosphatase 1 Catalytic Subunit Beta	Protein Coding	1
181	PPP1CA	Protein Phosphatase 1 Catalytic Subunit Alpha	Protein Coding	1
182	PPP1R12C	Protein Phosphatase 1 Regulatory Subunit 12C	Protein Coding	1
183	SHC3	SHC Adaptor Protein 3	Protein Coding	1
184	PPP1R12A	Protein Phosphatase 1 Regulatory Subunit 12A	Protein Coding	1
185	MYL5	Myosin Light Chain 5	Protein Coding	1
186	SHC4	SHC Adaptor Protein 4	Protein Coding	1
187	LAMA5	Laminin Subunit Alpha 5	Protein Coding	1
188	ITGB7	Integrin Subunit Beta 7	Protein Coding	1
189	ITGA9	Integrin Subunit Alpha 9	Protein Coding	1
190	MYLK4	Myosin Light Chain Kinase Family Member 4	Protein Coding	1
191	MYLK3	Myosin Light Chain Kinase 3	Protein Coding	1
192	MYL11	Myosin Light Chain 11	Protein Coding	1
193	PARVB	Parvin Beta	Protein Coding	1
194	RAPGEF1	Rap Guanine Nucleotide Exchange Factor 1	Protein Coding	1
195	GRB2	Growth Factor Receptor Bound Protein 2	Protein Coding	1
196	SHC2	SHC Adaptor Protein 2	Protein Coding	1
197	ITGA11	Integrin Subunit Alpha 11	Protein Coding	1
198	ELK1	ETS Transcription Factor ELK1	Protein Coding	1

Disorders associated with Focal adhesion SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Lung non-small cell carcinoma	Enrichment	BRAF, EGFR, ERBB2, HRAS, MAP2K1, PIK3CA	8.41
2	Junctional epidermolysis bullosa	Enrichment	ITGA6, ITGB4, LAMA3, LAMB3, LAMC2	7.12
3	Epidermolysis bullosa, junctional 1a, intermediate	Enrichment	ITGB4, LAMA3, LAMB3, LAMC2	6.19
4	Junctional epidermolysis bullosa non-herlitz type	Enrichment	ITGB4, LAMA3, LAMB3, LAMC2	6.19
5	Noonan syndrome 1	Enrichment	BRAF, HRAS, MAP2K1, PPP1CB, RAF1, SOS1	6.13
6	Rasopathy	Enrichment	BRAF, HRAS, MAP2K1, PPP1CB, RAF1, SOS1	5.79
7	Noonan syndrome and noonan-related syndrome	Enrichment	BRAF, HRAS, MAP2K1, RAF1, SOS1	5.77
8	Bladder cancer	Enrichment	CTNNB1, EGFR, ERBB2, HRAS, PIK3CA, PTEN	5.49
9	Colorectal cancer	Enrichment	AKT1, BRAF, CCND1, CTNNB1, ERBB2, MET, PIK3CA, PIK3R1, SRC	5.32
10	Ehlers-danlos syndrome	Enrichment	COL1A1, COL1A2, COL5A2, THBS2, TNXB	5.21
11	Megalencephaly-capillary malformation-polymicrogyria syndrome	Enrichment	AKT3, PIK3CA, PIK3R2	4.92
12	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Enrichment	AKT3, CCND2, PIK3R2	4.92
13	Meningioma	Enrichment	AKT1, PDGFB, PIK3CA, PTEN	4.70
14	Lip and oral cavity carcinoma	Enrichment	BRAF, EGFR, HRAS, PIK3CA	4.70
15	Hemimegalencephaly	Enrichment	AKT3, PIK3CA, PTEN	4.52
16	Ehlers-danlos syndrome, classic type, 1	Enrichment	COL1A1, COL1A2, COL5A2	4.23
17	Cowden syndrome 1	Enrichment	EGFR, PIK3CA, PTEN	4.23
18	Epidermolysis bullosa, junctional 1b, severe	Enrichment	LAMA3, LAMB3, LAMC2	4.23
19	Keratoconus	Enrichment	COL1A1, COL4A1, COL5A2	4.23
20	Fetomaternal alloimmune thrombocytopenia 1	Enrichment	ITGA2, ITGA2B, ITGB3	4.23
21	Classic ehlers-danlos syndrome	Enrichment	COL1A1, COL1A2, COL5A2	4.23
22	Lung cancer	Enrichment	BRAF, EGFR, ERBB2, MET, PIK3CA	4.04
23	Thyroid cancer, nonmedullary, 2	Enrichment	BRAF, HRAS, PTEN	3.99
24	Noonan syndrome 3	Enrichment	HRAS, RAF1, SOS1	3.99
25	Gallbladder cancer	Enrichment	BRAF, CTNNB1, PIK3CA	3.99
26	Follicular thyroid carcinoma	Enrichment	BRAF, HRAS, PTEN	3.99
27	Ovarian cancer	Enrichment	AKT1, CTNNB1, EGFR, ERBB2, MET, PDGFRA, PIK3CA, PTEN	3.95
28	Melanocytic nevus syndrome, congenital	Enrichment	BRAF, HRAS, RAF1	3.79
29	Epiphyseal dysplasia, multiple, 1	Enrichment	COL1A1, COMP	3.67
30	Spondyloepimetaphyseal dysplasia, strudwick type	Enrichment	COL2A1, FN1	3.67
31	Spondylometaphyseal dysplasia, corner fracture type	Enrichment	COL2A1, FN1	3.67
32	Dermatofibrosarcoma protuberans	Enrichment	COL1A1, PDGFB	3.67
33	Pulmonic stenosis	Enrichment	BRAF, SOS1	3.67
34	Ehlers-danlos syndrome, arthrochalasia type, 2	Enrichment	COL1A1, COL1A2	3.67
35	Childhood hepatocellular carcinoma	Enrichment	CTNNB1, MET	3.67
36	Immune system disease	Enrichment	CDC42, PIK3CD	3.67
37	Baraitser-winter cerebrofrontofacial syndrome	Enrichment	ACTB, ACTG1	3.67
38	Ehlers-danlos/osteogenesis imperfecta syndrome	Enrichment	COL1A1, COL1A2	3.67
39	Arteriovenous malformation	Enrichment	HRAS, MAP2K1, PIK3CA	3.62
40	Adult hepatocellular carcinoma	Enrichment	CTNNB1, EGF, PIK3CA	3.62
41	Cowden syndrome	Enrichment	AKT1, PIK3CA, PTEN	3.62
42	Myopathy, x-linked, with excessive autophagy	Enrichment	HRAS, MAP2K1, PIK3CA	3.47
43	Autosomal dominant macrothrombocytopenia	Enrichment	ACTN1, ITGA2B, ITGB3	3.47
44	Cardiomyopathy, familial hypertrophic, 1	Enrichment	CAV3, FLNC, MYLK2, RAF1	3.43
45	Nephrotic syndrome	Enrichment	COL4A4, FN1, ITGA3, LAMA5, LAMB2	3.41
46	Microcephaly	Enrichment	ACTB, ACTG1, COL4A1, CTNNB1, DIAPH1, IGF1R, MAPK1, PAK3	3.36
47	Bleeding disorder, platelet-type, 16	Enrichment	ITGA2B, ITGB3	3.20
48	Periventricular nodular heterotopia 1	Enrichment	FLNA, VWF	3.20
49	Langerhans cell histiocytosis	Enrichment	BRAF, MAP2K1	3.20
50	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	Enrichment	PIK3CA, PIK3R1	3.20
51	Immunodeficiency 14a with lymphoproliferation, autosomal dominant	Enrichment	PIK3CD, PIK3R1	3.20
52	Immunodeficiency 14	Enrichment	PIK3CD, PIK3R1	3.20
53	High bone mass osteogenesis imperfecta	Enrichment	COL1A1, COL1A2	3.20
54	Multiple epiphyseal dysplasia	Enrichment	COL2A1, COMP	3.20
55	Thrombocytopenia	Enrichment	ACTN1, ITGA2B, ITGB3, SRC, VWF	3.19
56	Multiple sclerosis	Enrichment	ITGB4, LAMA5, LAMB1	3.00
57	Osteoporosis	Enrichment	COL1A1, COL1A2, SRC	3.00
58	Lung cancer susceptibility 3	Enrichment	BRAF, EGFR, ERBB2	3.00
59	Dilated cardiomyopathy	Enrichment	BRAF, FLNC, LAMA2, MYL2, RAF1, VCL	2.96
60	Ehlers-danlos syndrome, arthrochalasia type, 1	Enrichment	COL1A1, COL1A2	2.90
61	Brain small vessel disease 1 with or without ocular anomalies	Enrichment	COL4A1, COL4A2	2.90
62	Cardiofaciocutaneous syndrome 1	Enrichment	BRAF, MAP2K1	2.90
63	Chromosome 22q11.2 deletion syndrome, distal	Enrichment	CRKL, MAPK1	2.90
64	Cardiofaciocutaneous syndrome	Enrichment	BRAF, MAP2K1	2.90
65	Craniopharyngioma	Enrichment	BRAF, CTNNB1	2.90
66	Noonan syndrome with multiple lentigines	Enrichment	BRAF, RAF1	2.90
67	Osteogenesis imperfecta with normal sclerae, dominant form	Enrichment	COL1A1, COL1A2	2.90
68	Familial hypertrophic cardiomyopathy	Enrichment	CAV3, FLNC, MYL2, RAF1	2.89
69	Dandy-walker syndrome	Enrichment	BRAF, PDGFRB, PPP1CB	2.75
70	Martsolf syndrome 1	Enrichment	ARHGAP35, ARHGAP5	2.69
71	Insulin-like growth factor i	Enrichment	IGF1, IGF1R	2.69
72	Epidermolysis bullosa	Enrichment	ITGA6, LAMB3	2.69
73	Primary hypereosinophilic syndrome	Enrichment	PDGFRA, PDGFRB	2.69
74	Familial porencephaly	Enrichment	COL4A1, COL4A2	2.69
75	Osteogenesis imperfecta, type i	Enrichment	COL1A1, COL1A2	2.51
76	Hemihyperplasia, isolated	Enrichment	PIK3CA, RHOA	2.51
77	Epidermolysis bullosa, junctional 5b, with pyloric atresia	Enrichment	ITGA6, ITGB4	2.51
78	Anterior segment dysgenesis 5	Enrichment	ARHGAP35, COL4A1	2.51
79	Hemorrhage, intracerebral	Enrichment	COL4A1, COL4A2	2.51
80	Breast adenocarcinoma	Enrichment	AKT1, PIK3CA	2.51
81	Lung squamous cell carcinoma	Enrichment	EGFR, PIK3CA	2.51
82	Familial thoracic aortic aneurysm and aortic dissection	Enrichment	COL1A1, COL5A2, FLNA, MYLK	2.42
83	Hepatocellular carcinoma	Enrichment	CTNNB1, MET, PIK3CA	2.42
84	Skin disease	Enrichment	ITGB4, LAMB3, LAMC2	2.42
85	Nevus, epidermal	Enrichment	HRAS, PIK3CA	2.37
86	Osteogenesis imperfecta, type ii	Enrichment	COL1A1, COL1A2	2.37
87	Squamous cell carcinoma, head and neck	Enrichment	EGFR, PTEN	2.37
88	Glanzmann thrombasthenia 1	Enrichment	ITGA2B, ITGB3	2.37
89	Capillary malformation-arteriovenous malformation 1	Enrichment	MAP2K1, PIK3CA	2.37
90	Pilomyxoid astrocytoma	Enrichment	BRAF, RAF1	2.37
91	Familial isolated restrictive cardiomyopathy	Enrichment	FLNC, MYL2	2.37
92	Breast cancer	Enrichment	AKT1, JUN, PIK3CA, PTEN, SHC1	2.32
93	Basal ganglia calcification, idiopathic, 1	Enrichment	PDGFB, PDGFRB	2.25
94	Peters-plus syndrome	Enrichment	ARHGAP35, COL4A1	2.05
95	Amelogenesis imperfecta, type ie	Enrichment	ITGB6, LAMB3	2.05
96	Melanoma	Enrichment	BRAF, PTEN	2.05
97	Autosomal non-syndromic agammaglobulinemia	Enrichment	PIK3CD, PIK3R1	2.05
98	Primary bone dysplasia	Enrichment	COL1A1, COL1A2	2.05
99	Meningioma, familial	Enrichment	PDGFB, PTEN	1.97
100	Osteochondrodysplasia	Enrichment	COL1A1, COL1A2	1.97
101	Genetic steroid-resistant nephrotic syndrome	Enrichment	ACTN4, EMP2, LAMA5	1.88
102	Stickler syndrome, type i	Enrichment	COL2A1	1.84
103	Arthritis, sacroiliac	Enrichment	RELN	1.84
104	Macrodactyly	Enrichment	PIK3CA	1.84
105	Boomerang dysplasia	Enrichment	FLNB	1.84
106	Proteus syndrome	Enrichment	AKT1	1.84
107	Paget disease, extramammary	Enrichment	ERBB2	1.84
108	Epiphyseal dysplasia, multiple, with myopia and conductive deafness	Enrichment	COL2A1	1.84
109	Pseudoachondroplasia	Enrichment	COMP	1.84
110	Hypoinsulinemic hypoglycemia with hemihypertrophy	Enrichment	AKT2	1.84
111	Ehlers-danlos syndrome, cardiac valvular type	Enrichment	COL1A2	1.84
112	Spondylometaphyseal dysplasia, algerian type	Enrichment	COL2A1	1.84
113	Von willebrand disease, type 1	Enrichment	VWF	1.84
114	Baraitser-winter syndrome 1	Enrichment	ACTB	1.84
115	Vacterl association with hydrocephalus	Enrichment	PTEN	1.84
116	Intellectual developmental disorder, x-linked 30	Enrichment	PAK3	1.84
117	Premature aging syndrome, penttinen type	Enrichment	PDGFRB	1.84
118	Focal segmental glomerulosclerosis 1	Enrichment	ACTN4	1.84
119	Lymphoproliferative syndrome, x-linked, 2	Enrichment	XIAP	1.84
120	Osteoarthritis with mild chondrodysplasia	Enrichment	COL2A1	1.84
121	Otopalatodigital syndrome, type i	Enrichment	FLNA	1.84
122	Intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linked	Enrichment	FLNA	1.84
123	Avascular necrosis of femoral head, primary, 1	Enrichment	COL2A1	1.84
124	Noonan syndrome 5	Enrichment	RAF1	1.84
125	Hypomagnesemia 4, renal	Enrichment	EGF	1.84
126	Czech dysplasia	Enrichment	COL2A1	1.84
127	Noonan syndrome 4	Enrichment	SOS1	1.84
128	Lipodystrophy, congenital generalized, type 3	Enrichment	CAV1	1.84
129	Hypereosinophilic syndrome, idiopathic	Enrichment	PDGFRA	1.84
130	Immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis	Enrichment	RAC2	1.84
131	Deafness, autosomal recessive 39	Enrichment	HGF	1.84
132	Melorheostosis, isolated	Enrichment	MAP2K1	1.84
133	Megalencephaly, autosomal dominant	Enrichment	PIK3CA	1.84
134	Kniest dysplasia	Enrichment	COL2A1	1.84
135	Noonan syndrome 7	Enrichment	BRAF	1.84
136	Leopard syndrome 3	Enrichment	BRAF	1.84
137	Cardiomyopathy, dilated, 1jj	Enrichment	LAMA4	1.84
138	Basal ganglia calcification, idiopathic, 5	Enrichment	PDGFB	1.84
139	Platyspondylic lethal skeletal dysplasia, torrance type	Enrichment	COL2A1	1.84
140	Atelosteogenesis, type iii	Enrichment	FLNB	1.84
141	Deafness, autosomal dominant 1, with or without thrombocytopenia	Enrichment	DIAPH1	1.84
142	Cardiomyopathy, dilated, 1nn	Enrichment	RAF1	1.84
143	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3	Enrichment	CCND2	1.84
144	Atelosteogenesis, type i	Enrichment	FLNB	1.84
145	Cowden syndrome 5	Enrichment	PIK3CA	1.84
146	Von willebrand disease, type 2	Enrichment	VWF	1.84
147	Cardiofaciocutaneous syndrome 3	Enrichment	MAP2K1	1.84
148	Myofibromatosis, infantile, 1	Enrichment	PDGFRB	1.84
149	Nephrotic syndrome, type 10	Enrichment	EMP2	1.84
150	Spondyloepiphyseal dysplasia, stanescu type	Enrichment	COL2A1	1.84
151	Lissencephaly 5	Enrichment	LAMB1	1.84
152	Deafness, autosomal dominant 56	Enrichment	TNC	1.84
153	Gist-plus syndrome	Enrichment	PDGFRA	1.84
154	Pulmonary hypertension, primary, 3	Enrichment	CAV1	1.84
155	Achondrogenesis, type ii	Enrichment	COL2A1	1.84
156	Carpal tunnel syndrome 2	Enrichment	COMP	1.84
157	Cerebral cavernous malformations 4	Enrichment	PIK3CA	1.84
158	Visceral neuropathy, familial, 2, autosomal recessive	Enrichment	ERBB2	1.84
159	Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus	Enrichment	TNR	1.84
160	Noonan syndrome 13	Enrichment	MAPK1	1.84
161	Nephrotic syndrome, type 26	Enrichment	LAMA5	1.84
162	Deafness, x-linked 6	Enrichment	COL4A6	1.84
163	Knobloch syndrome 2	Enrichment	PAK2	1.84
164	Terminal osseous dysplasia	Enrichment	FLNA	1.84
165	Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies	Enrichment	RAC3	1.84
166	Ullrich congenital muscular dystrophy 1b	Enrichment	COL6A2	1.84
167	Short syndrome	Enrichment	PIK3R1	1.84
168	Intellectual developmental disorder with macrocephaly, seizures, and speech delay	Enrichment	PAK1	1.84
169	Von willebrand disease, type 3	Enrichment	VWF	1.84
170	Fetomaternal alloimmune thrombocytopenia 2	Enrichment	ITGA2B	1.84
171	Combined osteogenesis imperfecta and ehlers-danlos syndrome 2	Enrichment	COL1A2	1.84
172	Hereditary lymphedema id	Enrichment	VEGFC	1.84
173	Congenital smooth muscle hamartoma, with or without hemihypertrophy	Enrichment	ACTB	1.84
174	Fg syndrome 2	Enrichment	FLNA	1.84
175	Osteofibrous dysplasia	Enrichment	MET	1.84
176	Spondyloperipheral dysplasia	Enrichment	COL2A1	1.84
177	Myosclerosis, autosomal recessive	Enrichment	COL6A2	1.84
178	Porencephaly	Enrichment	COL4A1	1.84
179	Myeloid and lymphoid neoplasms associated with pdgfra rearrangement	Enrichment	PDGFRA	1.84
180	Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia	Enrichment	RAC2	1.84
181	Lymphatic malformation 4	Enrichment	VEGFC	1.84
182	Papillary tumor of the pineal region	Enrichment	PTEN	1.84
183	Lipodystrophy, familial partial, type 7	Enrichment	CAV1	1.84
184	Deafness, autosomal recessive 97	Enrichment	MET	1.84
185	Microvascular complications of diabetes 1	Enrichment	VEGFA	1.84
186	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	Enrichment	AKT3	1.84
187	Cardiomyopathy, dilated, 1w	Enrichment	VCL	1.84
188	Lymphangioma	Enrichment	BRAF	1.84
189	Hemifacial myohyperplasia	Enrichment	PIK3CA	1.84
190	Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth	Enrichment	PIK3CA	1.84
191	Phace association	Enrichment	BRAF	1.84
192	Spinocerebellar ataxia 14	Enrichment	PRKCG	1.84
193	Otopalatodigital syndrome spectrum disorder	Enrichment	FLNA	1.84
194	Becker nevus syndrome	Enrichment	ACTB	1.84
195	Melorheostosis	Enrichment	MAP2K1	1.84
196	Dystonia-deafness syndrome 1	Enrichment	ACTB	1.84
197	Autism 9	Enrichment	MET	1.84
198	Stickler syndrome, type i, nonsyndromic ocular	Enrichment	COL2A1	1.84
199	Leopard syndrome 2	Enrichment	RAF1	1.84
200	Cortical malformations, occipital	Enrichment	LAMC3	1.84
201	Cardiomyopathy, familial hypertrophic, 15	Enrichment	VCL	1.84
202	Basal ganglia calcification, idiopathic, 4	Enrichment	PDGFRB	1.84
203	Immunodeficiency 36 with lymphoproliferation	Enrichment	PIK3R1	1.84
204	Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies	Enrichment	RAP1B	1.84
205	Cowden syndrome 6	Enrichment	AKT1	1.84
206	Bleeding disorder, platelet-type, 15	Enrichment	ACTN1	1.84
207	Synovitis	Enrichment	RELN	1.84
208	Immunodeficiency 14b, autosomal recessive	Enrichment	PIK3CD	1.84
209	Myeloid and lymphoid neoplasms associated with pdgfrb rearrangement	Enrichment	PDGFRB	1.84
210	Agammaglobulinemia 7, autosomal recessive	Enrichment	PIK3R1	1.84
211	Glioma susceptibility 2	Enrichment	PTEN	1.84
212	Kosaki overgrowth syndrome	Enrichment	PDGFRB	1.84
213	Thrombocytopenia 6	Enrichment	SRC	1.84
214	X-linked ehlers-danlos syndrome	Enrichment	FLNA	1.84
215	Seizures, cortical blindness, and microcephaly syndrome	Enrichment	DIAPH1	1.84
216	Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies	Enrichment	RHOA	1.84
217	Takenouchi-kosaki syndrome	Enrichment	CDC42	1.84
218	Noonan syndrome-like disorder with loose anagen hair 2	Enrichment	PPP1CB	1.84
219	Diaph1-related sensorineural hearing loss-thrombocytopenia syndrome	Enrichment	DIAPH1	1.84
220	Von willebrand's disease	Enrichment	VWF	1.84
221	Thrombocytopenia 8, with dysmorphic features and developmental delay	Enrichment	ACTB	1.84
222	Qualitative or quantitative defects of collagen 6	Enrichment	COL6A2	1.84
223	Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression	Enrichment	TNK2	1.84
224	Ocular pterygium-digital keloid dysplasia syndrome	Enrichment	PDGFRB	1.84
225	Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies	Enrichment	RHOA	1.84
226	Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia	Enrichment	RAC2	1.84
227	Trigonitis	Enrichment	RAF1	1.84
228	Bent bone dysplasia syndrome 2	Enrichment	LAMA5	1.84
229	Vitreoretinopathy with phalangeal epiphyseal dysplasia	Enrichment	COL2A1	1.84
230	Segmental progressive overgrowth syndrome with fibroadipose hyperplasia	Enrichment	PIK3CA	1.84
231	Tufted angioma of skin	Enrichment	KDR	1.84
232	Asphyxia neonatorum	Enrichment	COL1A1	1.84
233	Bethlem myopathy 1b	Enrichment	COL6A2	1.84
234	Adenoid ameloblastoma	Enrichment	CTNNB1	1.84
235	Arthrogryposis, distal, type 11	Enrichment	MET	1.84
236	Amelogenesis imperfecta, type ih	Enrichment	ITGB6	1.84
237	Baraitser-winter syndrome	Enrichment	ACTB	1.84
238	Autoinflammation with pulmonary and cutaneous vasculitis	Enrichment	HCK	1.84
239	Col4a1-related disorders	Enrichment	COL4A1	1.84
240	Occipital pachygyria and polymicrogyria	Enrichment	LAMC3	1.84
241	Hypospadias	Enrichment	PIK3CA	1.84
242	Capillary hemangioma	Enrichment	AKT3	1.84
243	Flnb-related disorders	Enrichment	FLNB	1.84
244	Autosomal dominant rhegmatogenous retinal detachment	Enrichment	COL2A1	1.84
245	Rare venous malformation	Enrichment	PIK3CA	1.84
246	Fetomaternal alloimmune thrombocytopenia 3	Enrichment	ITGA2	1.84
247	Col4a1 or col4a2-related cerebral small vessel disease	Enrichment	COL4A1	1.84
248	Multiple epiphyseal dysplasia with myopia and deafness	Enrichment	COL2A1	1.84
249	Immune dysregulation, neurodevelopmental defects, and colitis	Enrichment	ITGAV	1.84
250	Diaphragmatic eventration	Enrichment	PIK3CA	1.84
251	Hypochondrogenesis	Enrichment	COL2A1	1.84
252	Infantile lad-like disease due to rac2 deficiency	Enrichment	RAC2	1.84
253	Congenital smooth muscle hamartoma	Enrichment	ACTB	1.84
254	Capillary leak syndrome	Enrichment	TLN1	1.84
255	Reticular dysgenesis-like severe combined immunodeficiency	Enrichment	RAC2	1.84
256	Nocarh syndrome	Enrichment	CDC42	1.84
257	Pik3ca-related overgrowth spectrum	Enrichment	PIK3CA	1.84
258	Congenital primary lymphedema of gordon	Enrichment	VEGFC	1.84
259	Syringocystadenoma papilliferum	Enrichment	BRAF	1.84
260	Developmental malformations-deafness-dystonia syndrome	Enrichment	ACTB	1.84
261	Dysspondyloenchondromatosis	Enrichment	COL2A1	1.84
262	Rare combined vascular malformation	Enrichment	PIK3CA	1.84
263	Ganglioglioma	Enrichment	BRAF	1.84
264	Cavernous lymphangioma	Enrichment	PIK3CA	1.84
265	Pik3ca-related overgrowth syndrome	Enrichment	PIK3CA	1.84
266	Nongerminomatous germ cell tumor	Enrichment	BRAF	1.84
267	Phace syndrome	Enrichment	BRAF	1.84
268	X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome	Enrichment	FLNA	1.84
269	Phakomatosis pigmentokeratotica	Enrichment	HRAS	1.84
270	Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome	Enrichment	PTEN	1.84
271	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom	Enrichment	RAC1	1.84
272	Classic hairy cell leukemia	Enrichment	BRAF	1.84
273	Type 2 collagen-related bone disorder	Enrichment	COL2A1	1.84
274	Hemihyperplasia-multiple lipomatosis syndrome	Enrichment	PIK3CA	1.84
275	Lama5-related multisystemic syndrome	Enrichment	LAMA5	1.84
276	Eccrine angiomatous hamartoma	Enrichment	PIK3CA	1.84
277	Rac2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome	Enrichment	RAC2	1.84
278	Egf-related primary hypomagnesemia with intellectual disability	Enrichment	EGF	1.84
279	Macrodactyly of toe	Enrichment	PIK3CA	1.84
280	Serous carcinoma of the corpus uteri	Enrichment	ERBB2	1.84
281	Microcystic stromal tumor	Enrichment	CTNNB1	1.84
282	Temporomandibular joint anomaly	Enrichment	DOCK1	1.84
283	Laminin subunit alpha 2-related muscular dystrophy	Enrichment	LAMA2	1.84
284	Akt2-related familial partial lipodystrophy	Enrichment	AKT2	1.84
285	Osteogenesis imperfecta, type iv	Enrichment	COL1A1, COL1A2	1.83
286	Nk-cell enteropathy	Enrichment	IGF1R, PIK3CB	1.83
287	Cerebral palsy	Enrichment	COL4A1, COL4A2, PDGFRB	1.72
288	Congenital myopathy 4a, autosomal dominant	Enrichment	ITGA7, MYL2	1.71
289	Osteogenesis imperfecta, type iii	Enrichment	COL1A1, COL1A2	1.71
290	Myopia	Enrichment	COL2A1, COL4A4	1.71
291	Kidney disease	Enrichment	COL4A4, LAMB2	1.71
292	Creatine phosphokinase, elevated serum	Enrichment	CAV3, LAMA2	1.65
293	Isolated elevated serum creatine phosphokinase levels	Enrichment	CAV3, LAMA2	1.65
294	Rhabdomyosarcoma	Enrichment	HRAS, PTEN	1.65
295	Gastric cancer	Enrichment	ERBB2, PIK3CA, PTEN	1.61
296	Hereditary breast carcinoma	Enrichment	AKT1, PIK3CA, PTEN	1.58
297	Heart, malformation of	Enrichment	COL2A1, MAPK1	1.56
298	Patent foramen ovale	Enrichment	FLNA, FLNC	1.56
299	Amelogenesis imperfecta, type ia	Enrichment	LAMB3	1.54
300	Ehlers-danlos syndrome, hypermobility type	Enrichment	TNXB	1.54
301	Myeloproliferative disorder, chronic, with eosinophilia	Enrichment	PDGFRB	1.54
302	Fibromatosis, gingival, 1	Enrichment	SOS1	1.54
303	Costello syndrome	Enrichment	HRAS	1.54
304	Epidermolysis bullosa, junctional 2c, laryngoonychocutaneous	Enrichment	LAMA3	1.54
305	Bruck syndrome 1	Enrichment	COL1A2	1.54
306	Visceral neuropathy, familial, 1, autosomal recessive	Enrichment	FLNA	1.54
307	Otospondylomegaepiphyseal dysplasia, autosomal recessive	Enrichment	COL2A1	1.54
308	Myasthenic syndrome, congenital, 5	Enrichment	LAMB2	1.54
309	Otopalatodigital syndrome, type ii	Enrichment	FLNA	1.54
310	Osteopathia striata with cranial sclerosis	Enrichment	CTNNB1	1.54
311	Melnick-needles syndrome	Enrichment	FLNA	1.54
312	Frontometaphyseal dysplasia 1	Enrichment	FLNA	1.54
313	Lethal congenital contracture syndrome 3	Enrichment	PIP5K1C	1.54
314	Legg-calve-perthes disease	Enrichment	COL2A1	1.54
315	Deafness, autosomal dominant 20	Enrichment	ACTG1	1.54
316	Keratosis, seborrheic	Enrichment	PIK3CA	1.54
317	Lissencephaly 1	Enrichment	LAMB1	1.54
318	Roifman-chitayat syndrome	Enrichment	PIK3CD	1.54
319	Maturity-onset diabetes of the young, type 11	Enrichment	BLK	1.54
320	Baraitser-winter syndrome 2	Enrichment	ACTG1	1.54
321	Specific language impairment 5	Enrichment	COL4A4	1.54
322	Angioma, tufted	Enrichment	KDR	1.54
323	Otospondylomegaepiphyseal dysplasia, autosomal dominant	Enrichment	COL2A1	1.54
324	Noonan syndrome 8	Enrichment	PIK3CA	1.54
325	Pierson syndrome	Enrichment	LAMB2	1.54
326	Genitourinary and/or brain malformation syndrome	Enrichment	PPP1R12A	1.54
327	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1	Enrichment	COL4A2	1.54
328	Combined osteogenesis imperfecta and ehlers-danlos syndrome 1	Enrichment	COL1A1	1.54
329	Epidermolysis bullosa, junctional 3b, severe	Enrichment	LAMC2	1.54
330	Epidermolysis bullosa, junctional 3a, intermediate	Enrichment	LAMC2	1.54
331	Intellectual developmental disorder, autosomal dominant 48	Enrichment	RAC1	1.54
332	Epidermolysis bullosa, junctional 2a, intermediate	Enrichment	LAMA3	1.54
333	Epidermolysis bullosa, junctional 5a, intermediate	Enrichment	ITGB4	1.54
334	Cardiac valvular dysplasia, x-linked	Enrichment	FLNA	1.54
335	Infantile myofibromatosis	Enrichment	PDGFRB	1.54
336	Intravascular large b-cell lymphoma	Enrichment	BCL2	1.54
337	Nephrotic syndrome, type 5, with or without ocular abnormalities	Enrichment	LAMB2	1.54
338	Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome	Enrichment	ITGA3	1.54
339	Noonan syndrome-like disorder with loose anagen hair	Enrichment	PPP1CB	1.54
340	Senior-loken syndrome 7	Enrichment	AKT3	1.54
341	Rosette-forming glioneuronal tumor	Enrichment	PIK3CA	1.54
342	Cardiovascular system disease	Enrichment	FLNC	1.54
343	Cardiomyopathy, familial hypertrophic, 10	Enrichment	MYL2	1.54
344	Papillary renal cell carcinoma	Enrichment	MET	1.54
345	Glomerulonephritis	Enrichment	COL4A4	1.54
346	Stickler syndrome, type ii	Enrichment	COL1A1	1.54
347	Familial avascular necrosis of the femoral head	Enrichment	COL2A1	1.54
348	Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy	Enrichment	MYL2	1.54
349	Bardet-biedl syndrome 16	Enrichment	AKT3	1.54
350	Epidermolysis bullosa, junctional 2b, severe	Enrichment	LAMA3	1.54
351	Arthrogryposis, distal, type 1c	Enrichment	MYL11	1.54
352	Megacystis-microcolon-intestinal hypoperistalsis syndrome 4	Enrichment	MYL9	1.54
353	Juvenile nasopharyngeal angiofibroma	Enrichment	CTNNB1	1.54
354	Localized junctional epidermolysis bullosa, non-herlitz type	Enrichment	ITGB4	1.54
355	Chronic eosinophilic leukemia	Enrichment	PDGFRA	1.54
356	Vacterl with hydrocephalus	Enrichment	PTEN	1.54
357	Growth delay due to insulin-like growth factor type 1 deficiency	Enrichment	IGF1	1.54
358	Arthritis	Enrichment	RELN	1.54
359	Dentinogenesis imperfecta	Enrichment	COL1A2	1.54
360	Qualitative or quantitative defects of caveolin-3	Enrichment	CAV3	1.54
361	Teratoma	Enrichment	CTNNB1	1.54
362	B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality	Enrichment	PDGFRA	1.54
363	Juvenile polyposis of infancy	Enrichment	PTEN	1.54
364	X-linked diffuse leiomyomatosis-alport syndrome	Enrichment	COL4A6	1.54
365	Wooly hair nevus	Enrichment	HRAS	1.54
366	Arteriovenous malformations of the brain	Enrichment	BRAF, EGFR	1.51
367	Diffuse large b-cell lymphoma	Enrichment	BRAF, PTEN	1.51
368	Endometrial cancer	Enrichment	PIK3CA, PTEN	1.43
369	Lissencephaly	Enrichment	ACTG1, RELN	1.43
370	Familial isolated dilated cardiomyopathy	Enrichment	LAMA4, RAF1, VCL	1.38
371	Desmoid disease, hereditary	Enrichment	CTNNB1	1.36
372	Hyper-ige syndrome 1, autosomal dominant, with recurrent infections	Enrichment	ITGB3	1.36
373	Prune belly syndrome	Enrichment	FLNA	1.36
374	Mccune-albright syndrome	Enrichment	COL2A1	1.36
375	Retinal arteries, tortuosity of	Enrichment	COL4A1	1.36
376	Larsen syndrome	Enrichment	FLNB	1.36
377	Hematuria, benign familial, 1	Enrichment	COL4A4	1.36
378	Ataxia-telangiectasia	Enrichment	BRAF	1.36
379	Spondyloepiphyseal dysplasia congenita	Enrichment	COL2A1	1.36
380	Arterial tortuosity syndrome	Enrichment	FLNA	1.36
381	Pompe disease, infantile-onset	Enrichment	PIK3CA	1.36
382	Telecanthus	Enrichment	COL5A2	1.36
383	Myopathy, myofibrillar, 5	Enrichment	FLNC	1.36
384	Glomerulopathy with fibronectin deposits 2	Enrichment	FN1	1.36
385	Nuchal bleb, familial	Enrichment	SOS1	1.36
386	Ehlers-danlos syndrome, classic-like, 1	Enrichment	TNXB	1.36
387	Rippling muscle disease 2	Enrichment	CAV3	1.36
388	Spondylocarpotarsal synostosis syndrome	Enrichment	FLNB	1.36
389	Ehlers-danlos syndrome, classic type, 2	Enrichment	COL5A2	1.36
390	Muscular dystrophy, congenital merosin-deficient, 1a	Enrichment	LAMA2	1.36
391	Long qt syndrome 9	Enrichment	CAV3	1.36
392	Neurodevelopmental disorder with spastic diplegia and visual defects	Enrichment	CTNNB1	1.36
393	Aortic aneurysm, familial thoracic 7	Enrichment	MYLK	1.36
394	Congenital short bowel syndrome	Enrichment	FLNA	1.36
395	Caffey disease	Enrichment	COL1A1	1.36
396	Muscular dystrophy, congenital, due to integrin alpha-7 deficiency	Enrichment	ITGA7	1.36
397	Brain small vessel disease 2	Enrichment	COL4A2	1.36
398	Myopathy, distal, tateyama type	Enrichment	CAV3	1.36
399	Epilepsy, familial temporal lobe, 7	Enrichment	RELN	1.36
400	Neonatal nephrocutaneous inflammatory syndrome	Enrichment	EGFR	1.36
401	Myopathy, distal, 4	Enrichment	FLNC	1.36
402	Anus, imperforate	Enrichment	CTNNB1	1.36
403	Microangiopathy and leukoencephalopathy, pontine, autosomal dominant	Enrichment	COL4A1	1.36
404	Vesicoureteral reflux 8	Enrichment	TNXB	1.36
405	Exudative vitreoretinopathy 7	Enrichment	CTNNB1	1.36
406	Epidermolysis bullosa, junctional 6, with pyloric atresia	Enrichment	ITGA6	1.36
407	Ehlers-danlos syndrome, classic-like, 3	Enrichment	THBS2	1.36
408	Tethered spinal cord syndrome	Enrichment	BRAF	1.36
409	Large congenital melanocytic nevus	Enrichment	HRAS	1.36
410	Desmoid tumor	Enrichment	CTNNB1	1.36
411	High-grade b-cell lymphoma double-hit/triple-hit	Enrichment	BCL2	1.36
412	Poretti-boltshauser syndrome	Enrichment	LAMA1	1.36
413	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps	Enrichment	COL4A1	1.36
414	Frontometaphyseal dysplasia	Enrichment	FLNA	1.36
415	Kyphosis	Enrichment	RELN	1.36
416	Familial vesicoureteral reflux	Enrichment	TNXB	1.36
417	Laryngeal squamous cell carcinoma	Enrichment	PTEN	1.36
418	Spermatocytoma	Enrichment	HRAS	1.36
419	Collagen vi-related dystrophies	Enrichment	COL6A2	1.36
420	Growth delay due to insulin-like growth factor i resistance	Enrichment	IGF1R	1.36
421	Bleeding disorder, platelet-type, 24	Enrichment	ITGB3	1.36
422	Neonatal inflammatory skin and bowel disease	Enrichment	EGFR	1.36
423	Intermediate collagen vi-related muscular dystrophy	Enrichment	COL6A2	1.36
424	Alopecia - intellectual disability syndrome	Enrichment	ITGB6	1.36
425	Renal cell carcinoma	Enrichment	MET	1.36
426	Keratoacanthoma	Enrichment	PIK3CA	1.36
427	Digenic alport syndrome	Enrichment	COL4A4	1.36
428	Epilepsy with auditory features	Enrichment	RELN	1.36
429	Lama2-related muscular dystrophy	Enrichment	LAMA2	1.36
430	Brittle bone disorder	Enrichment	COL1A1, COL1A2	1.36
431	Scoliosis	Enrichment	COL2A1, RELN	1.32
432	Myeloma, multiple	Enrichment	BRAF, CCND1, PIK3R2	1.32
433	Tetralogy of fallot	Enrichment	FLNC, KDR	1.26
434	Amelogenesis imperfecta, type iiia	Enrichment	ITGB6	1.24
435	Schimmelpenning-feuerstein-mims syndrome	Enrichment	HRAS	1.24
436	Alport syndrome 2, autosomal recessive	Enrichment	COL4A4	1.24
437	Phenylketonuria	Enrichment	COL1A1	1.24
438	Megacystis-microcolon-intestinal hypoperistalsis syndrome 1	Enrichment	MYLK	1.24
439	Schizencephaly	Enrichment	COL4A1	1.24
440	Thyroid cancer, nonmedullary, 1	Enrichment	BRAF	1.24
441	Epidermolysis bullosa simplex 5c, with pyloric atresia	Enrichment	ITGB4	1.24
442	Pilomatrixoma	Enrichment	CTNNB1	1.24
443	Retinitis pigmentosa 26	Enrichment	ITGA4	1.24
444	Lymphoproliferative syndrome 2	Enrichment	XIAP	1.24
445	Barrett esophagus	Enrichment	ERBB2	1.24
446	Aminoacylase 1 deficiency	Enrichment	ACTB	1.24
447	Cardiomyopathy, familial hypertrophic, 26	Enrichment	FLNC	1.24
448	Alazami syndrome	Enrichment	CTNNB1	1.24
449	Mantle cell lymphoma	Enrichment	CCND1	1.24
450	Hereditary ataxia	Enrichment	PRKCG	1.24
451	Cerebrovascular disease	Enrichment	PIK3CA	1.24
452	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	Enrichment	CDC42	1.24
453	Newborn respiratory distress syndrome	Enrichment	BRAF	1.24
454	Epidermolytic nevus	Enrichment	HRAS	1.24
455	Familial cerebral cavernous malformations	Enrichment	PIK3CA	1.24
456	Knobloch syndrome	Enrichment	PAK2	1.24
457	Autosomal recessive alport syndrome	Enrichment	COL4A4	1.24
458	Pediatric systemic lupus erythematosus	Enrichment	SPP1	1.24
459	Glioma	Enrichment	PTEN	1.24
460	Bethlem muscular dystrophy	Enrichment	COL6A2	1.24
461	Rare x-linked non-syndromic sensorineural deafness type dfn	Enrichment	COL4A6	1.24
462	Gingival fibromatosis	Enrichment	SOS1	1.24
463	Pseudomyogenic hemangioendothelioma	Enrichment	ACTB	1.24
464	Prostate cancer	Enrichment	PIK3CA, PTEN	1.18
465	Differentiated thyroid carcinoma	Enrichment	BRAF, HRAS	1.18
466	Alport syndrome 3a, autosomal dominant	Enrichment	COL4A4	1.15
467	Hemifacial hyperplasia	Enrichment	FLNC	1.15
468	Lymphoma, mucosa-associated lymphoid type	Enrichment	BIRC3	1.15
469	Capillary malformations, congenital	Enrichment	PIK3CA	1.15
470	Visceral myopathy 1	Enrichment	MYLK	1.15
471	Retinal detachment	Enrichment	COL2A1	1.15
472	Epidermolysis bullosa simplex 1c, localized	Enrichment	ITGB4	1.15
473	Exudative vitreoretinopathy 1	Enrichment	CTNNB1	1.15
474	Ullrich congenital muscular dystrophy 1a	Enrichment	COL6A2	1.15
475	Von hippel-lindau syndrome	Enrichment	CCND1	1.15
476	Macrocephaly/autism syndrome	Enrichment	PTEN	1.15
477	Knobloch syndrome 1	Enrichment	PAK2	1.15
478	Mosaic variegated aneuploidy syndrome 1	Enrichment	PAK6	1.15
479	Lissencephaly 2	Enrichment	RELN	1.15
480	Glanzmann thrombasthenia 2	Enrichment	ITGB3	1.15
481	Muscular dystrophy, limb-girdle, autosomal recessive 23	Enrichment	LAMA2	1.15
482	Pre-eclampsia	Enrichment	FLT1	1.15
483	Follicular lymphoma	Enrichment	BCL2	1.15
484	Heart conduction disease	Enrichment	FLNC	1.15
485	Autosomal dominant alport syndrome	Enrichment	COL4A4	1.15
486	Hemangioma	Enrichment	PTEN	1.15
487	Aplasia cutis congenita	Enrichment	ITGB4	1.15
488	Acute megakaryocytic leukemia	Enrichment	PTEN	1.15
489	Alport syndrome	Enrichment	COL4A4	1.15
490	Coloboma of choroid and retina	Enrichment	ACTG1	1.15
491	Diffuse cutaneous systemic sclerosis	Enrichment	CAV1	1.15
492	Connective tissue disease	Enrichment	COL2A1, FLNB	1.10
493	Developmental dysplasia of the hip 1	Enrichment	COL2A1	1.07
494	Klippel-trenaunay-weber syndrome	Enrichment	PIK3CA	1.07
495	Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency	Enrichment	TNXB	1.07
496	Weyers acrofacial dysostosis	Enrichment	CTNNB1	1.07
497	Moyamoya disease 1	Enrichment	DIAPH1	1.07
498	Wilms tumor 5	Enrichment	BRAF	1.07
499	Hemangioma, capillary infantile	Enrichment	KDR	1.07
500	Pendred syndrome	Enrichment	DIAPH1	1.07
501	Patent ductus arteriosus	Enrichment	FLNA	1.07
502	Adrenocortical carcinoma	Enrichment	CTNNB1	1.07
503	Limited scleroderma	Enrichment	CAV1	1.07
504	Inherited arrhythmogenic cardiomyopathy	Enrichment	FLNC	1.07
505	21-hydroxylase-deficient congenital adrenal hyperplasia	Enrichment	TNXB	1.07
506	Cakut	Enrichment	ACTG1, COL4A1	1.06
507	Bethlem myopathy 1a	Enrichment	COL6A2	1.01
508	Myelofibrosis	Enrichment	SRC	1.01
509	Intervertebral disc disease	Enrichment	THBS2	1.01
510	Gastrointestinal stromal tumor	Enrichment	PDGFRA	1.01
511	Renal cell carcinoma, papillary, 1	Enrichment	MET	1.01
512	Multiple enchondromatosis, maffucci type	Enrichment	COL2A1	1.01
513	Megacolon	Enrichment	AKT3	1.01
514	Epidermolysis bullosa simplex	Enrichment	ITGB4	1.01
515	Myofibrillar myopathy	Enrichment	FLNC	1.01
516	Overgrowth syndrome	Enrichment	PIK3R1	1.01
517	Systemic lupus erythematosus	Enrichment	BLK, SPP1	0.96
518	Arthrogryposis, distal, type 1a	Enrichment	MET	0.95
519	Glioma susceptibility 1	Enrichment	ERBB2	0.95
520	Myopathy, tubular aggregate, 1	Enrichment	CAV3	0.95
521	Fanconi anemia, complementation group c	Enrichment	FLNA	0.95
522	Renal hypodysplasia/aplasia 1	Enrichment	ITGA8	0.95
523	Lymphoma, non-hodgkin, familial	Enrichment	BRAF	0.95
524	Lennox-gastaut syndrome	Enrichment	MAPK10	0.95
525	Exudative vitreoretinopathy	Enrichment	CTNNB1	0.95
526	Congenital muscular dystrophy	Enrichment	LAMA2	0.95
527	Mosaic variegated aneuploidy syndrome	Enrichment	PAK6	0.95
528	Cardiomyopathy, familial hypertrophic, 4	Enrichment	BRAF	0.91
529	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	Enrichment	RAC1	0.91
530	Primary hyperaldosteronism	Enrichment	BRAF	0.91
531	Ventricular septal defect	Enrichment	BRAF	0.91
532	Familial thoracic aortic aneurysm and dissection	Enrichment	MYLK	0.91
533	Renal agenesis, bilateral	Enrichment	ITGA8	0.91
534	Inherited cancer-predisposing syndrome	Enrichment	EGFR, MET, PDGFRA, PTEN	0.89
535	Cat eye syndrome	Enrichment	ACTG1	0.86
536	Marfan syndrome	Enrichment	COL2A1	0.86
537	Leukemia, chronic lymphocytic	Enrichment	CCND1	0.86
538	Stickler syndrome	Enrichment	COL2A1	0.86
539	Polymicrogyria	Enrichment	AKT3	0.86
540	Nemaline myopathy	Enrichment	FLNC	0.86
541	Uterine corpus cancer	Enrichment	PTEN	0.83
542	Heritable pulmonary arterial hypertension	Enrichment	CAV1	0.83
543	Specific learning disability	Enrichment	MAPK1	0.83
544	Presynaptic congenital myasthenic syndromes	Enrichment	LAMA5	0.83
545	Cardiac conduction defect	Enrichment	FLNC	0.79
546	Restrictive cardiomyopathy	Enrichment	FLNC	0.79
547	Aortic valve disease 1	Enrichment	SOS1	0.76
548	Neural tube defects	Enrichment	ITGB1	0.76
549	Amelogenesis imperfecta	Enrichment	LAMB3	0.76
550	Chronic kidney disease	Enrichment	COL4A4	0.76
551	Hypertelorism	Enrichment	COL1A1, PIK3CA	0.76
552	Rare autosomal dominant non-syndromic sensorineural deafness type dfna	Enrichment	ACTG1, TNC	0.76
553	Medulloblastoma	Enrichment	CTNNB1	0.73
554	Lipoid congenital adrenal hyperplasia	Enrichment	TNXB	0.73
555	Aortic aneurysm, familial thoracic 1	Enrichment	MYLK	0.73
556	Periventricular nodular heterotopia	Enrichment	FLNA	0.73
557	Walker-warburg syndrome	Enrichment	COL4A1	0.73
558	Heart disease	Enrichment	MYL2	0.73
559	Cleft lip/palate	Enrichment	PDGFRA	0.73
560	46,xy partial gonadal dysgenesis	Enrichment	SOS1	0.73
561	Isolated macular dystrophy	Enrichment	ITGA4	0.73
562	Hereditary breast ovarian cancer syndrome	Enrichment	BCAR1, PTEN	0.72
563	Renal cell carcinoma, nonpapillary	Enrichment	MET	0.70
564	Wilms tumor 1	Enrichment	BRAF	0.70
565	Corpus callosum, agenesis of	Enrichment	COL4A1	0.70
566	Hydrocephalus	Enrichment	PDGFRB	0.70
567	Anterior segment dysgenesis	Enrichment	COL4A1	0.70
568	Lynch syndrome	Enrichment	PIK3CA	0.70
569	Isolated corpus callosum agenesis	Enrichment	COL4A1	0.70
570	Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome	Enrichment	COL4A1	0.70
571	Arrhythmogenic right ventricular cardiomyopathy	Enrichment	FLNC	0.68
572	Hypertension	Enrichment	COL4A4	0.68
573	Gliosarcoma	Enrichment	EGFR	0.68
574	Primary ovarian insufficiency	Enrichment	KDR, THBS1	0.67
575	Melanoma, cutaneous malignant 1	Enrichment	BRAF	0.66
576	Cleft palate, isolated	Enrichment	FLNA	0.66
577	Sudden infant death syndrome	Enrichment	CAV3	0.66
578	Cardiomyopathy, dilated, 1e	Enrichment	MYL2	0.66
579	Polycystic liver disease	Enrichment	CTNNB1	0.66
580	Giant cell glioblastoma	Enrichment	EGFR	0.66
581	Autosomal dominant polycystic liver disease	Enrichment	CTNNB1	0.66
582	Polycystic kidney disease	Enrichment	COL4A4	0.63
583	Parkinson's disease	Enrichment	TNK2	0.61
584	Maturity-onset diabetes of the young	Enrichment	BLK	0.59
585	Focal segmental glomerulosclerosis	Enrichment	COL4A4	0.59
586	Cardiomyopathy, dilated, 1a	Enrichment	FLNC	0.58
587	Hepatoblastoma	Enrichment	CTNNB1	0.58
588	Myocardial infarction	Enrichment	ITGB3	0.56
589	Autoinflammatory disease	Enrichment	XIAP	0.53
590	Muscular dystrophy	Enrichment	COL6A2	0.53
591	Hydrops fetalis, nonimmune	Enrichment	HRAS	0.50
592	Auditory neuropathy	Enrichment	DIAPH1	0.50
593	Rare genetic deafness	Enrichment	ACTG1, DIAPH1	0.49
594	Hirschsprung disease 1	Enrichment	ERBB2	0.46
595	Severe covid-19	Enrichment	ITGAV	0.46
596	Long qt syndrome 1	Enrichment	CAV3	0.45
597	Stargardt disease 1	Enrichment	COL2A1	0.45
598	Long qt syndrome	Enrichment	CAV3	0.44
599	Non-immune hydrops fetalis	Enrichment	HRAS	0.44
600	Rare autosomal recessive non-syndromic sensorineural deafness type dfnb	Enrichment	HGF, MET	0.43
601	Left ventricular noncompaction	Enrichment	RAF1	0.40
602	Non-syndromic genetic deafness	Enrichment	ACTG1	0.39
603	Epilepsy	Enrichment	DIAPH1	0.35
604	Myopathy	Enrichment	COL6A2	0.35
605	Charcot-marie-tooth disease	Enrichment	LAMA2	0.34
606	Benign epilepsy with centrotemporal spikes	Enrichment	RELN	0.34
607	Congenital nervous system abnormality	Enrichment	CTNNB1, PTEN	0.34
608	Nervous system disease	Enrichment	CTNNB1, PTEN	0.34
609	Type 2 diabetes mellitus	Enrichment	AKT2	0.34
610	Distal arthrogryposis	Enrichment	MYL11	0.34
611	Nonsyndromic hearing loss	Enrichment	ACTG1	0.34
612	Centralopathic epilepsy	Enrichment	RELN	0.33
613	Hypertrophic cardiomyopathy	Enrichment	MYL2	0.33
614	Autism spectrum disorder	Enrichment	MAP2K1, PTEN	0.32
615	Sensorineural hearing loss	Enrichment	HGF	0.30
616	Spastic ataxia	Enrichment	FLNC	0.27
617	Complex neurodevelopmental disorder	Enrichment	PAK3, RAC3	0.27
618	Schizophrenia	Enrichment	RELN	0.24
619	Cone-rod dystrophy 2	Enrichment	ITGA4	0.20
620	Hereditary retinal dystrophy	Enrichment	COL2A1, ITGA4, LAMA1	0.10
621	Fundus dystrophy	Enrichment	COL2A1, ITGA4, LAMA1	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

Focal adhesion

Pathway Network for Focal adhesion

Member Pathways for Focal adhesion

Pathways in the Focal adhesion SuperPath

Associated Genes for Focal adhesion

Associated Disorders for Focal adhesion

Disorders associated with Focal adhesion SuperPath

STRING Interaction Network for Focal adhesion

Sources for Focal adhesion