PDGFR-beta signaling pathway

No Pathway Network information available for PDGFR-beta signaling pathway

Pathways in the PDGFR-beta signaling pathway SuperPath

#	Name	Source	Genes
1	PDGFR-beta signaling pathway	PubChem	ABI1 ABL1 ACTA2 ACTN4 ACTR2 ACTR3 AFDN ARAP1 ARHGAP35 ARHGDIA ARPC1B ARPC2 ARPC3 ARPC4 ARPC5 BAIAP2 BCAR1 BRAF BRK1 CBL CRK CSK CTTN CYFIP2 DNM2 DOCK4 DOK1 EIF2AK2 ELK1 EPS8 FOS GAB1 GRB10 GRB2 IQGAP1 ITGAV ITGB3 JAK2 JUN JUND KSR1 LCK LRP1 MAP2K1 MAP2K4 MAPK3 MAPK8 MYC MYOCD NCK1 NCKAP1 NHERF1 PAG1 PAK1 PDGFB PDGFRB PIK3CA PIK3CB PIK3CG PIK3R1 PIK3R6 PIN1 PLA2G4A PLCG1 PPP2CA PPP2R1A PPP2R2B PRKCA PRKCD PRKCE PTEN PTPN1 PTPN11 PTPN2 PTPRJ RAB4A RAB5A RAC1 RAF1 RAPGEF1 RASA1 RHOA RPS6KA3 S1PR1 SFN SHC1 SIPA1 SLA SOS1 SPHK1 SRF STAT1 STAT3 STAT5A STAT5B TAGLN USP6NL VAV2 WASF2 WASL (see all 100) (see less)
2	ErbB1 downstream signaling	PubChem	ABI1 ACTR2 ACTR3 AKT1 ARF4 ARPC1B ARPC2 ARPC3 ARPC4 ARPC5 ATF1 ATF2 BAD BAIAP2 BCL2L1 BRAF BRK1 CAPN2 CDC42 CHN2 CREB1 CYFIP2 DIAPH3 DUSP1 DUSP6 EGF EGFR EGR1 ELK1 EPS8 F2RL2 FOS GAB1 GRB2 IQGAP1 JUN KSR1 MAP2K1 MAP2K2 MAP2K4 MAP2K5 MAP3K1 MAP3K2 MAPK3 MAPK7 MAPK8 MAPKAP1 MEF2C MLST8 MTOR MYL11 NCKAP1 PDPK1 PEBP1 PIK3CA PIK3CB PIK3R1 PLD1 PLD2 PPP2CA PPP2R1A PPP2R2A PPP5C PRKCA PRKCD PRKCZ RAB5A RAC1 RAF1 RALA RALGDS RICTOR RIN1 RPS6 RPS6KA3 RPS6KA5 SFN SH2D2A SLC9A1 SMAD1 SOS1 SRC SRF STAT1 STAT3 USP6NL VAV2 WASF2 WASL YWHAZ ZFP36 (see all 91) (see less)

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

#	Symbol	Description	Category	# Related Pathways
1	EPS8	EGFR Pathway Substrate 8, Signaling Adaptor	Protein Coding	2
2	ABI1	Abl Interactor 1	Protein Coding	2
3	CYFIP2	Cytoplasmic FMR1 Interacting Protein 2	Protein Coding	2
4	WASF2	WASP Family Member 2	Protein Coding	2
5	RPS6KA3	Ribosomal Protein S6 Kinase A3	Protein Coding	2
6	PPP2CA	Protein Phosphatase 2 Catalytic Subunit Alpha	Protein Coding	2
7	MAP2K4	Mitogen-Activated Protein Kinase Kinase 4	Protein Coding	2
8	KSR1	Kinase Suppressor Of Ras 1	Protein Coding	2
9	SRF	Serum Response Factor	Protein Coding	2
10	FOS	Fos Proto-Oncogene, AP-1 Transcription Factor Subunit	Protein Coding	2
11	NCKAP1	NCK Associated Protein 1	Protein Coding	2
12	BAIAP2	BAR/IMD Domain Containing Adaptor Protein 2	Protein Coding	2
13	BRK1	BRICK1 Subunit Of SCAR/WAVE Actin Nucleating Complex	Protein Coding	2
14	ELK1	ETS Transcription Factor ELK1	Protein Coding	2
15	GAB1	GRB2 Associated Binding Protein 1	Protein Coding	2
16	MAPK8	Mitogen-Activated Protein Kinase 8	Protein Coding	2
17	PRKCD	Protein Kinase C Delta	Protein Coding	2
18	RAB5A	RAB5A, Member RAS Oncogene Family	Protein Coding	2
19	IQGAP1	IQ Motif Containing GTPase Activating Protein 1	Protein Coding	2
20	JUN	Jun Proto-Oncogene, AP-1 Transcription Factor Subunit	Protein Coding	2
21	STAT3	Signal Transducer And Activator Of Transcription 3	Protein Coding	2
22	ARPC1B	Actin Related Protein 2/3 Complex Subunit 1B	Protein Coding	2
23	VAV2	Vav Guanine Nucleotide Exchange Factor 2	Protein Coding	2
24	MAP2K1	Mitogen-Activated Protein Kinase Kinase 1	Protein Coding	2
25	PRKCA	Protein Kinase C Alpha	Protein Coding	2
26	WASL	WASP Like Actin Nucleation Promoting Factor	Protein Coding	2
27	MAPK3	Mitogen-Activated Protein Kinase 3	Protein Coding	2
28	PPP2R1A	Protein Phosphatase 2 Scaffold Subunit Aalpha	Protein Coding	2
29	RAC1	Rac Family Small GTPase 1	Protein Coding	2
30	SFN	Stratifin	Protein Coding	2
31	ARPC3	Actin Related Protein 2/3 Complex Subunit 3	Protein Coding	2
32	ARPC4	Actin Related Protein 2/3 Complex Subunit 4	Protein Coding	2
33	ACTR2	Actin Related Protein 2	Protein Coding	2
34	ARPC2	Actin Related Protein 2/3 Complex Subunit 2	Protein Coding	2
35	ACTR3	Actin Related Protein 3	Protein Coding	2
36	ARPC5	Actin Related Protein 2/3 Complex Subunit 5	Protein Coding	2
37	USP6NL	USP6 N-Terminal Like	Protein Coding	2
38	GRB2	Growth Factor Receptor Bound Protein 2	Protein Coding	2
39	SOS1	SOS Ras/Rac Guanine Nucleotide Exchange Factor 1	Protein Coding	2
40	BRAF	B-Raf Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	2
41	PIK3CB	Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Beta	Protein Coding	2
42	PIK3CA	Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha	Protein Coding	2
43	PIK3R1	Phosphoinositide-3-Kinase Regulatory Subunit 1	Protein Coding	2
44	STAT1	Signal Transducer And Activator Of Transcription 1	Protein Coding	2
45	RAF1	Raf-1 Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	2
46	DOCK4	Dedicator Of Cytokinesis 4	Protein Coding	1
47	SIPA1	Signal-Induced Proliferation-Associated 1	Protein Coding	1
48	TAGLN	Transgelin	Protein Coding	1
49	NHERF1	NHERF Family PDZ Scaffold Protein 1	Protein Coding	1
50	AFDN	Afadin, Adherens Junction Formation Factor	Protein Coding	1
51	PPP2R2B	Protein Phosphatase 2 Regulatory Subunit Bbeta	Protein Coding	1
52	ACTN4	Actinin Alpha 4	Protein Coding	1
53	STAT5B	Signal Transducer And Activator Of Transcription 5B	Protein Coding	1
54	MYOCD	Myocardin	Protein Coding	1
55	PTPN2	Protein Tyrosine Phosphatase Non-Receptor Type 2	Protein Coding	1
56	SLA	Src Like Adaptor	Protein Coding	1
57	LCK	LCK Proto-Oncogene, Src Family Tyrosine Kinase	Protein Coding	1
58	ARHGDIA	Rho GDP Dissociation Inhibitor Alpha	Protein Coding	1
59	DOK1	Docking Protein 1	Protein Coding	1
60	ARAP1	ArfGAP With RhoGAP Domain, Ankyrin Repeat And PH Domain 1	Protein Coding	1
61	PIN1	Peptidylprolyl Cis/Trans Isomerase, NIMA-Interacting 1	Protein Coding	1
62	CTTN	Cortactin	Protein Coding	1
63	JUND	JunD Proto-Oncogene, AP-1 Transcription Factor Subunit	Protein Coding	1
64	ACTA2	Actin Alpha 2, Smooth Muscle	Protein Coding	1
65	S1PR1	Sphingosine-1-Phosphate Receptor 1	Protein Coding	1
66	PTPRJ	Protein Tyrosine Phosphatase Receptor Type J	Protein Coding	1
67	PRKCE	Protein Kinase C Epsilon	Protein Coding	1
68	PDGFB	Platelet Derived Growth Factor Subunit B	Protein Coding	1
69	GRB10	Growth Factor Receptor Bound Protein 10	Protein Coding	1
70	RAPGEF1	Rap Guanine Nucleotide Exchange Factor 1	Protein Coding	1
71	PAG1	Phosphoprotein Membrane Anchor With Glycosphingolipid Microdomains 1	Protein Coding	1
72	SPHK1	Sphingosine Kinase 1	Protein Coding	1
73	PIK3R6	Phosphoinositide-3-Kinase Regulatory Subunit 6	Protein Coding	1
74	PTEN	Phosphatase And Tensin Homolog	Protein Coding	1
75	BCAR1	BCAR1 Scaffold Protein, Cas Family Member	Protein Coding	1
76	CSK	C-Terminal Src Kinase	Protein Coding	1
77	PTPN1	Protein Tyrosine Phosphatase Non-Receptor Type 1	Protein Coding	1
78	PIK3CG	Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Gamma	Protein Coding	1
79	ABL1	ABL Proto-Oncogene 1, Non-Receptor Tyrosine Kinase	Protein Coding	1
80	RASA1	RAS P21 Protein Activator 1	Protein Coding	1
81	ITGAV	Integrin Subunit Alpha V	Protein Coding	1
82	NCK1	NCK Adaptor Protein 1	Protein Coding	1
83	PTPN11	Protein Tyrosine Phosphatase Non-Receptor Type 11	Protein Coding	1
84	PLCG1	Phospholipase C Gamma 1	Protein Coding	1
85	PAK1	P21 (RAC1) Activated Kinase 1	Protein Coding	1
86	RHOA	Ras Homolog Family Member A	Protein Coding	1
87	ARHGAP35	Rho GTPase Activating Protein 35	Protein Coding	1
88	RAB4A	RAB4A, Member RAS Oncogene Family	Protein Coding	1
89	DNM2	Dynamin 2	Protein Coding	1
90	CBL	Cbl Proto-Oncogene	Protein Coding	1
91	MYC	MYC Proto-Oncogene, BHLH Transcription Factor	Protein Coding	1
92	JAK2	Janus Kinase 2	Protein Coding	1
93	STAT5A	Signal Transducer And Activator Of Transcription 5A	Protein Coding	1
94	ITGB3	Integrin Subunit Beta 3	Protein Coding	1
95	CRK	CRK Proto-Oncogene, Adaptor Protein	Protein Coding	1
96	LRP1	LDL Receptor Related Protein 1	Protein Coding	1
97	EIF2AK2	Eukaryotic Translation Initiation Factor 2 Alpha Kinase 2	Protein Coding	1
98	PDGFRB	Platelet Derived Growth Factor Receptor Beta	Protein Coding	1
99	SHC1	SHC Adaptor Protein 1	Protein Coding	1
100	PLA2G4A	Phospholipase A2 Group IVA	Protein Coding	1
101	RIN1	Ras And Rab Interactor 1	Protein Coding	1
102	MYL11	Myosin Light Chain 11	Protein Coding	1
103	CHN2	Chimerin 2	Protein Coding	1
104	DUSP6	Dual Specificity Phosphatase 6	Protein Coding	1
105	F2RL2	Coagulation Factor II Thrombin Receptor Like 2	Protein Coding	1
106	DUSP1	Dual Specificity Phosphatase 1	Protein Coding	1
107	MAP3K2	Mitogen-Activated Protein Kinase Kinase Kinase 2	Protein Coding	1
108	PLD1	Phospholipase D1	Protein Coding	1
109	CREB1	CAMP Responsive Element Binding Protein 1	Protein Coding	1
110	PLD2	Phospholipase D2	Protein Coding	1
111	ZFP36	ZFP36 Ring Finger Protein	Protein Coding	1
112	MEF2C	Myocyte Enhancer Factor 2C	Protein Coding	1
113	SMAD1	SMAD Family Member 1	Protein Coding	1
114	CAPN2	Calpain 2	Protein Coding	1
115	PPP2R2A	Protein Phosphatase 2 Regulatory Subunit Balpha	Protein Coding	1
116	DIAPH3	Diaphanous Related Formin 3	Protein Coding	1
117	EGR1	Early Growth Response 1	Protein Coding	1
118	PEBP1	Phosphatidylethanolamine Binding Protein 1	Protein Coding	1
119	MAPKAP1	MAPK Associated Protein 1	Protein Coding	1
120	MLST8	MTOR Associated Protein MLST8	Protein Coding	1
121	RICTOR	RPTOR Independent Companion Of MTOR Complex 2	Protein Coding	1
122	SH2D2A	SH2 Domain Containing 2A	Protein Coding	1
123	ATF1	Activating Transcription Factor 1	Protein Coding	1
124	MAPK7	Mitogen-Activated Protein Kinase 7	Protein Coding	1
125	MAP2K5	Mitogen-Activated Protein Kinase Kinase 5	Protein Coding	1
126	RALGDS	Ral Guanine Nucleotide Dissociation Stimulator	Protein Coding	1
127	EGF	Epidermal Growth Factor	Protein Coding	1
128	PPP5C	Protein Phosphatase 5 Catalytic Subunit	Protein Coding	1
129	AKT1	AKT Serine/Threonine Kinase 1	Protein Coding	1
130	SLC9A1	Solute Carrier Family 9 Member A1	Protein Coding	1
131	PRKCZ	Protein Kinase C Zeta	Protein Coding	1
132	PDPK1	3-Phosphoinositide Dependent Protein Kinase 1	Protein Coding	1
133	RPS6	Ribosomal Protein S6	Protein Coding	1
134	CDC42	Cell Division Cycle 42	Protein Coding	1
135	RPS6KA5	Ribosomal Protein S6 Kinase A5	Protein Coding	1
136	ARF4	ARF GTPase 4	Protein Coding	1
137	ATF2	Activating Transcription Factor 2	Protein Coding	1
138	YWHAZ	Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Zeta	Protein Coding	1
139	RALA	RAS Like Proto-Oncogene A	Protein Coding	1
140	BAD	BCL2 Associated Agonist Of Cell Death	Protein Coding	1
141	SRC	SRC Proto-Oncogene, Non-Receptor Tyrosine Kinase	Protein Coding	1
142	BCL2L1	BCL2 Like 1	Protein Coding	1
143	MAP2K2	Mitogen-Activated Protein Kinase Kinase 2	Protein Coding	1
144	MTOR	Mechanistic Target Of Rapamycin Kinase	Protein Coding	1
145	MAP3K1	Mitogen-Activated Protein Kinase Kinase Kinase 1	Protein Coding	1
146	EGFR	Epidermal Growth Factor Receptor	Protein Coding	1

Disorders associated with PDGFR-beta signaling pathway SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Noonan syndrome and noonan-related syndrome	Enrichment	BRAF, CBL, MAP2K1, PTPN11, RAF1, SOS1	9.17
2	Noonan syndrome 1	Enrichment	BRAF, CBL, MAP2K1, PTPN11, RAF1, SOS1	7.90
3	Rasopathy	Enrichment	BRAF, CBL, MAP2K1, PTPN11, RAF1, SOS1	7.55
4	Lung non-small cell carcinoma	Enrichment	BRAF, EGFR, MAP2K1, PIK3CA	6.22
5	Cardiofaciocutaneous syndrome 1	Enrichment	BRAF, MAP2K1, MAP2K2	5.93
6	Cardiofaciocutaneous syndrome	Enrichment	BRAF, MAP2K1, MAP2K2	5.93
7	Noonan syndrome with multiple lentigines	Enrichment	BRAF, PTPN11, RAF1	5.81
8	Capillary malformation-arteriovenous malformation 1	Enrichment	MAP2K1, PIK3CA, RASA1	4.88
9	Noonan syndrome 3	Enrichment	PTPN11, RAF1, SOS1	4.88
10	Arteriovenous malformation	Enrichment	MAP2K1, PIK3CA, RASA1	4.50
11	Pulmonic stenosis	Enrichment	BRAF, SOS1	4.35
12	Myopathy, x-linked, with excessive autophagy	Enrichment	MAP2K1, PIK3CA, RASA1	4.35
13	Lip and oral cavity carcinoma	Enrichment	BRAF, EGFR, PIK3CA	4.21
14	Meningioma	Enrichment	PDGFB, PIK3CA, PTEN	4.09
15	Langerhans cell histiocytosis	Enrichment	BRAF, MAP2K1	3.88
16	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	Enrichment	PIK3CA, PIK3R1	3.88
17	Melanoma of soft tissue	Enrichment	ATF1, CREB1	3.88
18	Hyper-ige syndrome 1, autosomal dominant, with recurrent infections	Enrichment	ITGB3, STAT3	3.79
19	Breast implant-associated anaplastic large cell lymphoma	Enrichment	JAK2, STAT3	3.79
20	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	Enrichment	CDC42, YWHAZ	3.58
21	Colorectal cancer	Enrichment	AKT1, BRAF, PIK3CA, PIK3R1, SRC	3.54
22	Diffuse large b-cell lymphoma	Enrichment	BRAF, PTEN, STAT3	3.46
23	Hemimegalencephaly	Enrichment	MTOR, PIK3CA	3.36
24	Capillary malformations, congenital	Enrichment	PIK3CA, RASA1	3.28
25	Myeloproliferative neoplasm	Enrichment	CBL, JAK2	3.28
26	Cowden syndrome 1	Enrichment	EGFR, PIK3CA	3.18
27	Breast adenocarcinoma	Enrichment	AKT1, PIK3CA	3.18
28	Lung squamous cell carcinoma	Enrichment	EGFR, PIK3CA	3.18
29	Klippel-trenaunay-weber syndrome	Enrichment	PIK3CA, RASA1	3.10
30	Hemihyperplasia, isolated	Enrichment	PIK3CA, RHOA	3.10
31	Gallbladder cancer	Enrichment	BRAF, PIK3CA	3.04
32	Pilomyxoid astrocytoma	Enrichment	BRAF, RAF1	3.04
33	Overgrowth syndrome	Enrichment	MTOR, PIK3R1	3.04
34	Thyroid cancer, nonmedullary, 2	Enrichment	BRAF, PTEN	2.96
35	Follicular thyroid carcinoma	Enrichment	BRAF, PTEN	2.96
36	Melanocytic nevus syndrome, congenital	Enrichment	BRAF, RAF1	2.92
37	Lung cancer	Enrichment	BRAF, EGFR, PIK3CA	2.90
38	Basal ganglia calcification, idiopathic, 1	Enrichment	PDGFB, PDGFRB	2.83
39	Adult hepatocellular carcinoma	Enrichment	EGF, PIK3CA	2.81
40	Ventricular septal defect	Enrichment	BRAF, RPS6KA3	2.81
41	Cowden syndrome	Enrichment	AKT1, PIK3CA	2.81
42	Breast cancer	Enrichment	JUN, PIK3CA, PTEN, SHC1	2.65
43	Melanoma	Enrichment	BRAF, PTEN	2.63
44	Meningioma, familial	Enrichment	PDGFB, PTEN	2.55
45	Specific learning disability	Enrichment	PTPN11, RPS6KA3	2.55
46	Juvenile myelomonocytic leukemia	Enrichment	CBL, PTPN11	2.47
47	Lung cancer susceptibility 3	Enrichment	BRAF, EGFR	2.42
48	46,xy partial gonadal dysgenesis	Enrichment	MAP3K1, SOS1	2.42
49	Acute promyelocytic leukemia	Enrichment	STAT3, STAT5B	2.40
50	Ovarian cancer	Enrichment	AKT1, EGFR, MAP3K1, PIK3CA	2.33
51	Rhabdomyosarcoma	Enrichment	CBL, PTEN	2.22
52	Macrodactyly	Enrichment	PIK3CA	2.17
53	Proteus syndrome	Enrichment	AKT1	2.17
54	Coffin-lowry syndrome	Enrichment	RPS6KA3	2.17
55	Deafness, autosomal recessive 26	Enrichment	GAB1	2.17
56	Noonan syndrome 5	Enrichment	RAF1	2.17
57	Hypomagnesemia 4, renal	Enrichment	EGF	2.17
58	Noonan syndrome 4	Enrichment	SOS1	2.17
59	Melorheostosis, isolated	Enrichment	MAP2K1	2.17
60	Megalencephaly, autosomal dominant	Enrichment	PIK3CA	2.17
61	Noonan syndrome 7	Enrichment	BRAF	2.17
62	Leopard syndrome 3	Enrichment	BRAF	2.17
63	Cardiomyopathy, dilated, 1nn	Enrichment	RAF1	2.17
64	Cowden syndrome 5	Enrichment	PIK3CA	2.17
65	Cardiac valvular dysplasia 1	Enrichment	PLD1	2.17
66	Cardiofaciocutaneous syndrome 3	Enrichment	MAP2K1	2.17
67	Lichtenstein-knorr syndrome	Enrichment	SLC9A1	2.17
68	46,xy sex reversal 6	Enrichment	MAP3K1	2.17
69	Autoimmune lymphoproliferative syndrome, type iii	Enrichment	PRKCD	2.17
70	Hiatt-neu-cooper neurodevelopmental syndrome	Enrichment	RALA	2.17
71	Cerebral cavernous malformations 4	Enrichment	PIK3CA	2.17
72	Short syndrome	Enrichment	PIK3R1	2.17
73	Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia	Enrichment	ARPC1B	2.17
74	Intellectual developmental disorder, x-linked 19	Enrichment	RPS6KA3	2.17
75	T-cell large granular lymphocyte leukemia	Enrichment	STAT3	2.17
76	Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language	Enrichment	MEF2C	2.17
77	Auditory neuropathy, autosomal dominant 1	Enrichment	DIAPH3	2.17
78	Houge-janssens syndrome 2	Enrichment	PPP2R1A	2.17
79	Lymphangioma	Enrichment	BRAF	2.17
80	Hemifacial myohyperplasia	Enrichment	PIK3CA	2.17
81	Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth	Enrichment	PIK3CA	2.17
82	Phace association	Enrichment	BRAF	2.17
83	Melorheostosis	Enrichment	MAP2K1	2.17
84	Leopard syndrome 2	Enrichment	RAF1	2.17
85	Immunodeficiency 31a	Enrichment	STAT1	2.17
86	Immunodeficiency 36 with lymphoproliferation	Enrichment	PIK3R1	2.17
87	Cardiofaciocutaneous syndrome 4	Enrichment	MAP2K2	2.17
88	Cowden syndrome 6	Enrichment	AKT1	2.17
89	Hypogonadotropic hypogonadism 19 with or without anosmia	Enrichment	DUSP6	2.17
90	Deafness, autosomal recessive 102	Enrichment	EPS8	2.17
91	Agammaglobulinemia 7, autosomal recessive	Enrichment	PIK3R1	2.17
92	Immunodeficiency 31b	Enrichment	STAT1	2.17
93	Autoimmune disease, multisystem, infantile-onset, 1	Enrichment	STAT3	2.17
94	Thrombocytopenia 6	Enrichment	SRC	2.17
95	Takenouchi-kosaki syndrome	Enrichment	CDC42	2.17
96	Trigonitis	Enrichment	RAF1	2.17
97	Segmental progressive overgrowth syndrome with fibroadipose hyperplasia	Enrichment	PIK3CA	2.17
98	Symptomatic form of coffin-lowry syndrome in female carriers	Enrichment	RPS6KA3	2.17
99	Hypospadias	Enrichment	PIK3CA	2.17
100	Stat3-related early-onset multisystem autoimmune disease	Enrichment	STAT3	2.17
101	5q14.3 microdeletion syndrome	Enrichment	MEF2C	2.17
102	Rare venous malformation	Enrichment	PIK3CA	2.17
103	Diaphragmatic eventration	Enrichment	PIK3CA	2.17
104	Complete atrioventricular septal defect without ventricular hypoplasia	Enrichment	MEF2C	2.17
105	Nocarh syndrome	Enrichment	CDC42	2.17
106	Pik3ca-related overgrowth spectrum	Enrichment	PIK3CA	2.17
107	Syringocystadenoma papilliferum	Enrichment	BRAF	2.17
108	Rare combined vascular malformation	Enrichment	PIK3CA	2.17
109	Ganglioglioma	Enrichment	BRAF	2.17
110	Cavernous lymphangioma	Enrichment	PIK3CA	2.17
111	Pik3ca-related overgrowth syndrome	Enrichment	PIK3CA	2.17
112	Nongerminomatous germ cell tumor	Enrichment	BRAF	2.17
113	Phace syndrome	Enrichment	BRAF	2.17
114	Mef2c-related disorder	Enrichment	MEF2C	2.17
115	Ppp2r1a-related neurodevelopmental disorder	Enrichment	PPP2R1A	2.17
116	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom	Enrichment	RAC1	2.17
117	Classic hairy cell leukemia	Enrichment	BRAF	2.17
118	Hemihyperplasia-multiple lipomatosis syndrome	Enrichment	PIK3CA	2.17
119	Chronic lymphoproliferative disorder of natural killer cells	Enrichment	STAT3	2.17
120	Eccrine angiomatous hamartoma	Enrichment	PIK3CA	2.17
121	Egf-related primary hypomagnesemia with intellectual disability	Enrichment	EGF	2.17
122	Macrodactyly of toe	Enrichment	PIK3CA	2.17
123	Dandy-walker syndrome	Enrichment	BRAF, PDGFRB	2.17
124	Arteriovenous malformations of the brain	Enrichment	BRAF, EGFR	2.15
125	Metachondromatosis	Enrichment	PTPN11	2.13
126	Cystic angiomatosis of bone, diffuse	Enrichment	RASA1	2.13
127	Atrophoderma vermiculata	Enrichment	LRP1	2.13
128	Vacterl association with hydrocephalus	Enrichment	PTEN	2.13
129	Premature aging syndrome, penttinen type	Enrichment	PDGFRB	2.13
130	Focal segmental glomerulosclerosis 1	Enrichment	ACTN4	2.13
131	Nephrolithiasis/osteoporosis, hypophosphatemic, 2	Enrichment	NHERF1	2.13
132	Spinocerebellar ataxia 12	Enrichment	PPP2R2B	2.13
133	Basal ganglia calcification, idiopathic, 5	Enrichment	PDGFB	2.13
134	Leopard syndrome 1	Enrichment	PTPN11	2.13
135	Keratosis pilaris atrophicans	Enrichment	LRP1	2.13
136	Myofibromatosis, infantile, 1	Enrichment	PDGFRB	2.13
137	Charcot-marie-tooth disease, dominant intermediate b	Enrichment	DNM2	2.13
138	Nephrotic syndrome, type 8	Enrichment	ARHGDIA	2.13
139	Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant	Enrichment	STAT5B	2.13
140	Megabladder, congenital	Enrichment	MYOCD	2.13
141	Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome	Enrichment	EIF2AK2	2.13
142	Intellectual developmental disorder with macrocephaly, seizures, and speech delay	Enrichment	PAK1	2.13
143	Immune dysregulation, autoimmunity, and autoinflammation	Enrichment	PLCG1	2.13
144	Papillary tumor of the pineal region	Enrichment	PTEN	2.13
145	Lethal congenital contracture syndrome 5	Enrichment	DNM2	2.13
146	Basal ganglia calcification, idiopathic, 4	Enrichment	PDGFRB	2.13
147	Cytosolic phospholipase-a2 alpha deficiency associated bleeding disorder	Enrichment	PLA2G4A	2.13
148	Myeloid and lymphoid neoplasms associated with pdgfrb rearrangement	Enrichment	PDGFRB	2.13
149	Immunodeficiency 97 with autoinflammation	Enrichment	PIK3CG	2.13
150	Glioma susceptibility 2	Enrichment	PTEN	2.13
151	Kosaki overgrowth syndrome	Enrichment	PDGFRB	2.13
152	Immunodeficiency 22	Enrichment	LCK	2.13
153	Gastrointestinal ulceration, recurrent, with dysfunctional platelets	Enrichment	PLA2G4A	2.13
154	Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies	Enrichment	RHOA	2.13
155	Dystonia 33	Enrichment	EIF2AK2	2.13
156	Ocular pterygium-digital keloid dysplasia syndrome	Enrichment	PDGFRB	2.13
157	Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies	Enrichment	RHOA	2.13
158	Autosomal dominant charcot-marie-tooth disease type 2m	Enrichment	DNM2	2.13
159	Thrombocytopenia 10	Enrichment	PTPRJ	2.13
160	Immune dysregulation, neurodevelopmental defects, and colitis	Enrichment	ITGAV	2.13
161	Gorham's disease	Enrichment	RASA1	2.13
162	Cryptogenic multifocal ulcerous stenosing enteritis	Enrichment	PLA2G4A	2.13
163	Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome	Enrichment	PTEN	2.13
164	Silver-russell syndrome due to maternal uniparental disomy of chromosome 7	Enrichment	GRB10	2.13
165	Malignant astrocytoma	Enrichment	PTPN11	2.13
166	Endometrial cancer	Enrichment	PIK3CA, PTEN	1.99
167	Precursor t-cell acute lymphoblastic leukemia	Enrichment	ABL1, MYC	1.91
168	Fibromatosis, gingival, 1	Enrichment	SOS1	1.87
169	Scoliosis, isolated 1	Enrichment	MAPK7	1.87
170	Histiocytoma, angiomatoid fibrous	Enrichment	CREB1	1.87
171	Keratosis, seborrheic	Enrichment	PIK3CA	1.87
172	Noonan syndrome 8	Enrichment	PIK3CA	1.87
173	Immunodeficiency 31c	Enrichment	STAT1	1.87
174	Immunodeficiency 72 with autoinflammation and lymphoproliferation	Enrichment	NCKAP1	1.87
175	Intellectual developmental disorder, autosomal dominant 48	Enrichment	RAC1	1.87
176	Developmental delay, language impairment, and ocular abnormalities	Enrichment	ARPC4	1.87
177	Cebalid syndrome	Enrichment	MTOR	1.87
178	Rosette-forming glioneuronal tumor	Enrichment	PIK3CA	1.87
179	Immunodeficiency 113 with autoimmunity and autoinflammation	Enrichment	ARPC5	1.87
180	Immune system disease	Enrichment	CDC42	1.87
181	Smith-kingsmore syndrome	Enrichment	MTOR	1.87
182	Arthrogryposis, distal, type 1c	Enrichment	MYL11	1.87
183	Houge-janssens syndrome 3	Enrichment	PPP2CA	1.87
184	Immunodeficiency 133	Enrichment	ARPC5	1.87
185	Immunodeficiency 72	Enrichment	NCKAP1	1.87
186	Tafro syndrome	Enrichment	MAP2K2	1.87
187	Burkitt lymphoma	Enrichment	MYC	1.83
188	Myeloproliferative disorder, chronic, with eosinophilia	Enrichment	PDGFRB	1.83
189	Growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive	Enrichment	STAT5B	1.83
190	Ovarian germ cell cancer	Enrichment	CBL	1.83
191	Dermatofibrosarcoma protuberans	Enrichment	PDGFB	1.83
192	Aortic aneurysm, familial thoracic 2	Enrichment	ACTA2	1.83
193	Smooth muscle dysfunction syndrome	Enrichment	ACTA2	1.83
194	Aortic aneurysm, familial thoracic 6	Enrichment	ACTA2	1.83
195	Moyamoya disease 5	Enrichment	ACTA2	1.83
196	Thrombocythemia 3	Enrichment	JAK2	1.83
197	Myopia 28, autosomal recessive	Enrichment	DOK1	1.83
198	Congenital heart defects and skeletal malformations syndrome	Enrichment	ABL1	1.83
199	Developmental dysplasia of the hip 3	Enrichment	LRP1	1.83
200	Werner syndrome	Enrichment	PTPN11	1.83
201	Hypophosphatemia	Enrichment	NHERF1	1.83
202	Autoinflammatory disease, familial, behcet-like 3	Enrichment	SIPA1	1.83
203	Infantile myofibromatosis	Enrichment	PDGFRB	1.83
204	Polycythemia	Enrichment	JAK2	1.83
205	Vacterl with hydrocephalus	Enrichment	PTEN	1.83
206	Hypereosinophilic syndrome	Enrichment	JAK2	1.83
207	Malignant germ cell tumor of ovary	Enrichment	CBL	1.83
208	Dominant hypophosphatemia with nephrolithiasis or osteoporosis	Enrichment	NHERF1	1.83
209	Juvenile polyposis of infancy	Enrichment	PTEN	1.83
210	Laron syndrome with immunodeficiency	Enrichment	STAT5B	1.83
211	Bladder cancer	Enrichment	EGFR, PIK3CA	1.79
212	Prostate cancer	Enrichment	PIK3CA, PTEN	1.72
213	Ataxia-telangiectasia	Enrichment	BRAF	1.70
214	Pompe disease, infantile-onset	Enrichment	PIK3CA	1.70
215	Nuchal bleb, familial	Enrichment	SOS1	1.70
216	Neonatal nephrocutaneous inflammatory syndrome	Enrichment	EGFR	1.70
217	Immunodeficiency 14a with lymphoproliferation, autosomal dominant	Enrichment	PIK3R1	1.70
218	Developmental and epileptic encephalopathy 65	Enrichment	CYFIP2	1.70
219	Tethered spinal cord syndrome	Enrichment	BRAF	1.70
220	Hyper ige syndrome	Enrichment	STAT3	1.70
221	Immunodeficiency 14	Enrichment	PIK3R1	1.70
222	Neonatal inflammatory skin and bowel disease	Enrichment	EGFR	1.70
223	Keratoacanthoma	Enrichment	PIK3CA	1.70
224	Prune belly syndrome	Enrichment	MYOCD	1.66
225	Bleeding disorder, platelet-type, 16	Enrichment	ITGB3	1.66
226	Polycythemia vera	Enrichment	JAK2	1.66
227	Myopathy, centronuclear, x-linked	Enrichment	DNM2	1.66
228	Keratosis follicularis spinulosa decalvans	Enrichment	LRP1	1.66
229	Wieacker-wolff syndrome	Enrichment	RASA1	1.66
230	High-grade b-cell lymphoma double-hit/triple-hit	Enrichment	MYC	1.66
231	Torsion dystonia 1	Enrichment	EIF2AK2	1.66
232	T-cell acute lymphoblastic leukemia	Enrichment	ABL1	1.66
233	Laryngeal squamous cell carcinoma	Enrichment	PTEN	1.66
234	Bleeding disorder, platelet-type, 24	Enrichment	ITGB3	1.66
235	Tricuspid valve insufficiency	Enrichment	PTPN11	1.66
236	Genetic steroid-resistant nephrotic syndrome	Enrichment	ACTN4, ARHGDIA	1.59
237	Thyroid cancer, nonmedullary, 1	Enrichment	BRAF	1.58
238	Neurofibromatosis-noonan syndrome	Enrichment	MAP2K2	1.58
239	Megalencephaly-capillary malformation-polymicrogyria syndrome	Enrichment	PIK3CA	1.58
240	Focal cortical dysplasia, type ii	Enrichment	MTOR	1.58
241	Congenital generalized lipodystrophy	Enrichment	FOS	1.58
242	Cerebrovascular disease	Enrichment	PIK3CA	1.58
243	Craniopharyngioma	Enrichment	BRAF	1.58
244	Newborn respiratory distress syndrome	Enrichment	BRAF	1.58
245	Familial cerebral cavernous malformations	Enrichment	PIK3CA	1.58
246	Isolated focal cortical dysplasia type ii	Enrichment	MTOR	1.58
247	Gingival fibromatosis	Enrichment	SOS1	1.58
248	Erythrocytosis, familial, 1	Enrichment	JAK2	1.54
249	Autoimmune lymphoproliferative syndrome	Enrichment	ACTA2	1.54
250	Budd-chiari syndrome	Enrichment	JAK2	1.54
251	Chronic myelogenous leukemia, bcr-abl1 positive	Enrichment	ABL1	1.54
252	Glioma	Enrichment	PTEN	1.54
253	Histiocytoid hemangioma	Enrichment	FOS	1.48
254	Hereditary breast carcinoma	Enrichment	AKT1, PIK3CA	1.45
255	Martsolf syndrome 1	Enrichment	ARHGAP35	1.44
256	Macrocephaly/autism syndrome	Enrichment	PTEN	1.44
257	Glanzmann thrombasthenia 2	Enrichment	ITGB3	1.44
258	Lymphoma	Enrichment	PTPN11	1.44
259	Hemangioma	Enrichment	PTEN	1.44
260	Acute megakaryocytic leukemia	Enrichment	PTEN	1.44
261	Aggressive systemic mastocytosis	Enrichment	CBL	1.44
262	Primary hypereosinophilic syndrome	Enrichment	PDGFRB	1.44
263	Wilms tumor 5	Enrichment	BRAF	1.40
264	Chronic mucocutaneous candidiasis	Enrichment	STAT1	1.40
265	Gastric cancer	Enrichment	PIK3CA, PTEN	1.40
266	Myopathy, centronuclear, 1	Enrichment	DNM2	1.36
267	Telangiectasia, hereditary hemorrhagic, type 1	Enrichment	RASA1	1.36
268	Moyamoya disease 1	Enrichment	ACTA2	1.36
269	Hemangioma, capillary infantile	Enrichment	RASA1	1.36
270	Anterior segment dysgenesis 5	Enrichment	ARHGAP35	1.36
271	Basal cell carcinoma 1	Enrichment	RASA1	1.36
272	Patent ductus arteriosus	Enrichment	PTPN11	1.36
273	Fetomaternal alloimmune thrombocytopenia 1	Enrichment	ITGB3	1.36
274	Nevus, epidermal	Enrichment	PIK3CA	1.34
275	Myelofibrosis	Enrichment	SRC	1.34
276	Squamous cell carcinoma, head and neck	Enrichment	EGFR	1.34
277	Renal cell carcinoma, papillary, 1	Enrichment	MTOR	1.34
278	Autism spectrum disorder	Enrichment	MAP2K1, PTEN, PTPN11	1.33
279	Hypertelorism	Enrichment	PIK3CA, RPS6KA3	1.32
280	Thrombocytopenia	Enrichment	ITGB3, PTPN11	1.31
281	Glanzmann thrombasthenia 1	Enrichment	ITGB3	1.30
282	Leukemia, chronic myeloid	Enrichment	ABL1	1.30
283	Essential thrombocythemia	Enrichment	JAK2	1.30
284	Hereditary hemorrhagic telangiectasia	Enrichment	RASA1	1.30
285	Oligoarticular juvenile idiopathic arthritis	Enrichment	PTPN2	1.30
286	Rheumatoid factor-negative juvenile idiopathic arthritis	Enrichment	PTPN2	1.30
287	Moyamoya angiopathy	Enrichment	ABL1	1.30
288	B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)	Enrichment	ABL1	1.30
289	Gastroesophageal reflux	Enrichment	RPS6KA3	1.28
290	Lymphoma, non-hodgkin, familial	Enrichment	BRAF	1.28
291	Orthostatic intolerance	Enrichment	RPS6KA3	1.28
292	Permanent neonatal diabetes mellitus	Enrichment	STAT3	1.28
293	Cardiomyopathy, familial hypertrophic, 4	Enrichment	BRAF	1.23
294	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	Enrichment	RAC1	1.23
295	Primary hyperaldosteronism	Enrichment	BRAF	1.23
296	Hereditary breast ovarian cancer syndrome	Enrichment	BCAR1, PTEN	1.21
297	Leukemia, acute lymphoblastic 3	Enrichment	JAK2	1.19
298	Autosomal non-syndromic agammaglobulinemia	Enrichment	PIK3R1	1.19
299	Peters-plus syndrome	Enrichment	ARHGAP35	1.15
300	Nephrolithiasis	Enrichment	NHERF1	1.15
301	Autosomal dominant macrothrombocytopenia	Enrichment	ITGB3	1.15
302	Combined immunodeficiency	Enrichment	ARPC1B	1.15
303	46,xy complete gonadal dysgenesis	Enrichment	MAP3K1	1.15
304	Combined t cell and b cell immunodeficiency	Enrichment	ARPC1B	1.15
305	Combined t and b cell immunodeficiency	Enrichment	ARPC1B	1.15
306	Pectus excavatum	Enrichment	PTPN11	1.11
307	Uterine corpus cancer	Enrichment	PTEN	1.11
308	Aortic valve disease 1	Enrichment	SOS1	1.08
309	Chromosome 1p36 deletion syndrome	Enrichment	PRKCZ	1.08
310	Nk-cell enteropathy	Enrichment	PIK3CB	1.08
311	Epicanthus	Enrichment	PTPN11	1.07
312	Congenital long qt syndrome	Enrichment	PTPN11	1.07
313	Osteoporosis	Enrichment	SRC	1.05
314	Renal cell carcinoma, nonpapillary	Enrichment	MTOR	1.02
315	Wilms tumor 1	Enrichment	BRAF	1.02
316	Lynch syndrome	Enrichment	PIK3CA	1.02
317	Rare genetic intellectual disability	Enrichment	MTOR	1.02
318	Heart disease	Enrichment	ABL1	1.01
319	Dilated cardiomyopathy	Enrichment	BRAF, RAF1	1.00
320	Gliosarcoma	Enrichment	EGFR	0.99
321	Hydrocephalus	Enrichment	PDGFRB	0.98
322	Melanoma, cutaneous malignant 1	Enrichment	BRAF	0.97
323	Giant cell glioblastoma	Enrichment	EGFR	0.97
324	Normosmic congenital hypogonadotropic hypogonadism	Enrichment	DUSP6	0.94
325	Patent foramen ovale	Enrichment	PTPN11	0.90
326	Hepatocellular carcinoma	Enrichment	PIK3CA	0.86
327	Kallmann syndrome	Enrichment	DUSP6	0.84
328	Centronuclear myopathy	Enrichment	DNM2	0.84
329	Cardiomyopathy, familial hypertrophic, 1	Enrichment	RAF1	0.83
330	Myocardial infarction	Enrichment	ITGB3	0.82
331	Scoliosis	Enrichment	PTPN11	0.79
332	Hydrops fetalis, nonimmune	Enrichment	PTPN11	0.76
333	Differentiated thyroid carcinoma	Enrichment	BRAF	0.75
334	Strabismus	Enrichment	PTPN11	0.74
335	Severe covid-19	Enrichment	ITGAV	0.71
336	Long qt syndrome 1	Enrichment	PTPN11	0.70
337	Familial hypertrophic cardiomyopathy	Enrichment	RAF1	0.70
338	Complex neurodevelopmental disorder	Enrichment	PPP2CA, RALA	0.69
339	Non-immune hydrops fetalis	Enrichment	PTPN11	0.69
340	Left ventricular noncompaction	Enrichment	RAF1	0.68
341	Connective tissue disease	Enrichment	ACTA2	0.68
342	Non-syndromic x-linked intellectual disability	Enrichment	RPS6KA3	0.67
343	Severe combined immunodeficiency	Enrichment	LCK	0.66
344	Microcephaly	Enrichment	ABL1, PTPN11	0.64
345	Distal arthrogryposis	Enrichment	MYL11	0.61
346	Cerebral palsy	Enrichment	PDGFRB	0.60
347	Inherited cancer-predisposing syndrome	Enrichment	PTEN, PTPN11	0.59
348	Leukemia, acute myeloid	Enrichment	JAK2	0.59
349	Myopathy	Enrichment	DNM2	0.59
350	Charcot-marie-tooth disease	Enrichment	DNM2	0.58
351	Type 2 diabetes mellitus	Enrichment	PTPN1	0.57
352	Hypertrophic cardiomyopathy	Enrichment	PTPN11	0.56
353	Familial thoracic aortic aneurysm and aortic dissection	Enrichment	ACTA2	0.56
354	Autosomal dominant non-syndromic intellectual disability	Enrichment	YWHAZ	0.54
355	Rare autosomal dominant non-syndromic sensorineural deafness type dfna	Enrichment	DIAPH3	0.53
356	Familial isolated dilated cardiomyopathy	Enrichment	RAF1	0.52
357	Myeloma, multiple	Enrichment	BRAF	0.50
358	Undetermined early-onset epileptic encephalopathy	Enrichment	CYFIP2	0.50
359	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	Enrichment	MEF2C	0.49
360	Primary ovarian insufficiency	Enrichment	RICTOR	0.48
361	Male infertility with azoospermia or oligozoospermia due to single gene mutation	Enrichment	PTPN11	0.47
362	Deafness, autosomal recessive	Enrichment	EPS8	0.46
363	Autosomal recessive nonsyndromic deafness	Enrichment	EPS8	0.46
364	Autism	Enrichment	DOCK4	0.38
365	Rare autosomal recessive non-syndromic sensorineural deafness type dfnb	Enrichment	EPS8	0.35
366	Congenital nervous system abnormality	Enrichment	PTEN	0.26
367	Nervous system disease	Enrichment	PTEN	0.26

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

PDGFR-beta signaling pathway

Pathway Network for PDGFR-beta signaling pathway

Member Pathways for PDGFR-beta signaling pathway

Pathways in the PDGFR-beta signaling pathway SuperPath

Associated Genes for PDGFR-beta signaling pathway

Associated Disorders for PDGFR-beta signaling pathway

Disorders associated with PDGFR-beta signaling pathway SuperPath

STRING Interaction Network for PDGFR-beta signaling pathway

Sources for PDGFR-beta signaling pathway