MAPK family signaling cascades

Pathway network for the MAPK family signaling cascades SuperPath

Sources:

Reactome

Pathways in the MAPK family signaling cascades SuperPath

#	Name	Source	Genes
1	MAPK family signaling cascades	Reactome	ABHD17A ABHD17B ABHD17C ACTB ACTG1 ACTN2 ADRM1 AGO1 AGO2 AGO3 AGO4 ANGPT1 APBB1IP ARAF AREG ARL2 ARRB1 ARRB2 ARTN BCL2L1 BRAF BRAP BTC CALM1 CALM2 CALM3 CAMK2A CAMK2B CAMK2D CAMK2G CCND3 CDC14A CDC14B CDC42 CDC42EP2 CDC42EP3 CDC42EP5 CDK1 CHURC1-FNTB CNKSR1 CNKSR2 CSF2 CSF2RA CSF2RB CSK CUL3 DAB2IP DLG1 DLG2 DLG3 DLG4 DNAJB1 DUSP1 DUSP10 DUSP16 DUSP2 DUSP4 DUSP5 DUSP6 DUSP7 DUSP8 DUSP9 EGF EGFR EPGN ERBB2 ERBB3 ERBB4 EREG ETV4 FGA FGB FGF1 FGF10 FGF16 FGF17 FGF18 FGF19 FGF2 FGF20 FGF22 FGF23 FGF3 FGF4 FGF5 FGF6 FGF7 FGF8 FGF9 FGFR1 FGFR2 FGFR3 FGFR4 FGG FLT3 FLT3LG FN1 FNTA FNTB FOXO1 FOXO3 FRS2 FRS3 FYN GDNF GFRA1 GFRA2 GFRA3 GFRA4 GOLGA7 GRB2 GRIN1 GRIN2B GRIN2D HBEGF HGF HRAS HSPB1 ICMT IGF2BP1 IL17RD IL2 IL2RA IL2RB IL2RG IL3 IL3RA IL5 IL5RA IL6 IL6R IL6ST IQGAP1 IRS1 IRS2 ITGA2B ITGB3 JAK1 JAK2 JAK3 JUN KALRN KBTBD7 KIT KITLG KL KLB KRAS KSR1 KSR2 LAMTOR2 LAMTOR3 LAT LYPLA1 MAP2K1 MAP2K2 MAP3K11 MAPK1 MAPK12 MAPK3 MAPK4 MAPK6 MAPKAPK5 MARK3 MET MOV10 MRAS MYC NCAM1 NCOA3 NEFL NF1 NRAS NRG1 NRG2 NRG3 NRG4 NRTN PAK1 PAK2 PAK3 PAQR3 PDE6D PDGFA PDGFB PDGFRA PDGFRB PEA15 PEBP1 PHB1 PIK3CA PIK3CB PIK3R1 PIK3R2 PPP1CB PPP1CC PPP2CA PPP2CB PPP2R1A PPP2R1B PPP2R5A PPP2R5B PPP2R5C PPP2R5D PPP2R5E PPP5C PRKACA PRKACB PRKACG PRKG2 PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMB1 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD11 PSMD12 PSMD13 PSMD14 PSMD2 PSMD3 PSMD6 PSMD7 PSMD8 PSPN PTK2 PTPN11 PTPN3 PTPN7 PTPRA RAC1 RAF1 RAG1 RAG2 RALGDS RANBP9 RAP1A RAP1B RAPGEF2 RASA1 RASA2 RASA3 RASA4 RASAL1 RASAL2 RASAL3 RASGEF1A RASGRF1 RASGRF2 RASGRP1 RASGRP3 RASGRP4 RBX1 RCE1 RET RGL1 RGL2 RGL3 RPS27A SEM1 SEPTIN7 SHC1 SHC2 SHC3 SHOC2 SOS1 SPRED1 SPRED2 SPRED3 SPTA1 SPTAN1 SPTB SPTBN1 SPTBN2 SPTBN4 SPTBN5 SRC SYNGAP1 TEK TGFA TLN1 TNRC6A TNRC6B TNRC6C TYK2 UBA52 UBB UBC USP17L2 VCL VWF WDR83 XPO1 YWHAB ZDHHC9 (see all 311) (see less)
2	MAPK1/MAPK3 signaling	Reactome	ABHD17A ABHD17B ABHD17C ACTB ACTG1 ACTN2 ADRM1 ANGPT1 APBB1IP ARAF AREG ARL2 ARRB1 ARRB2 ARTN BCL2L1 BRAF BRAP BTC CALM1 CALM2 CALM3 CAMK2A CAMK2B CAMK2D CAMK2G CDK1 CHURC1-FNTB CNKSR1 CNKSR2 CSF2 CSF2RA CSF2RB CSK CUL3 DAB2IP DLG1 DLG2 DLG3 DLG4 DUSP1 DUSP10 DUSP16 DUSP2 DUSP4 DUSP5 DUSP6 DUSP7 DUSP8 DUSP9 EGF EGFR EPGN ERBB2 ERBB3 ERBB4 EREG FGA FGB FGF1 FGF10 FGF16 FGF17 FGF18 FGF19 FGF2 FGF20 FGF22 FGF23 FGF3 FGF4 FGF5 FGF6 FGF7 FGF8 FGF9 FGFR1 FGFR2 FGFR3 FGFR4 FGG FLT3 FLT3LG FN1 FNTA FNTB FRS2 FRS3 FYN GDNF GFRA1 GFRA2 GFRA3 GFRA4 GOLGA7 GRB2 GRIN1 GRIN2B GRIN2D HBEGF HGF HRAS ICMT IL17RD IL2 IL2RA IL2RB IL2RG IL3 IL3RA IL5 IL5RA IL6 IL6R IL6ST IQGAP1 IRS1 IRS2 ITGA2B ITGB3 JAK1 JAK2 JAK3 KBTBD7 KIT KITLG KL KLB KRAS KSR1 KSR2 LAMTOR2 LAMTOR3 LAT LYPLA1 MAP2K1 MAP2K2 MAP3K11 MAPK1 MAPK12 MAPK3 MARK3 MET MRAS NCAM1 NEFL NF1 NRAS NRG1 NRG2 NRG3 NRG4 NRTN PAQR3 PDE6D PDGFA PDGFB PDGFRA PDGFRB PEA15 PEBP1 PHB1 PIK3CA PIK3CB PIK3R1 PIK3R2 PPP1CB PPP1CC PPP2CA PPP2CB PPP2R1A PPP2R1B PPP2R5A PPP2R5B PPP2R5C PPP2R5D PPP2R5E PPP5C PRKG2 PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMB1 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD11 PSMD12 PSMD13 PSMD14 PSMD2 PSMD3 PSMD6 PSMD7 PSMD8 PSPN PTK2 PTPN11 PTPN3 PTPN7 PTPRA RAF1 RALGDS RANBP9 RAP1A RAP1B RAPGEF2 RASA1 RASA2 RASA3 RASA4 RASAL1 RASAL2 RASAL3 RASGEF1A RASGRF1 RASGRF2 RASGRP1 RASGRP3 RASGRP4 RBX1 RCE1 RET RGL1 RGL2 RGL3 RPS27A SEM1 SHC1 SHC2 SHC3 SHOC2 SOS1 SPRED1 SPRED2 SPRED3 SPTA1 SPTAN1 SPTB SPTBN1 SPTBN2 SPTBN4 SPTBN5 SRC SYNGAP1 TEK TGFA TLN1 TYK2 UBA52 UBB UBC USP17L2 VCL VWF WDR83 YWHAB ZDHHC9 (see all 272) (see less)
3	RAF/MAP kinase cascade	Reactome	ABHD17A ABHD17B ABHD17C ACTB ACTG1 ACTN2 ADRM1 ANGPT1 APBB1IP ARAF AREG ARL2 ARRB1 ARRB2 ARTN BCL2L1 BRAF BRAP BTC CALM1 CALM2 CALM3 CAMK2A CAMK2B CAMK2D CAMK2G CHURC1-FNTB CNKSR1 CNKSR2 CSF2 CSF2RA CSF2RB CSK CUL3 DAB2IP DLG1 DLG2 DLG3 DLG4 DUSP1 DUSP10 DUSP16 DUSP2 DUSP4 DUSP5 DUSP6 DUSP7 DUSP8 DUSP9 EGF EGFR EPGN ERBB2 ERBB3 ERBB4 EREG FGA FGB FGF1 FGF10 FGF16 FGF17 FGF18 FGF19 FGF2 FGF20 FGF22 FGF23 FGF3 FGF4 FGF5 FGF6 FGF7 FGF8 FGF9 FGFR1 FGFR2 FGFR3 FGFR4 FGG FLT3 FLT3LG FN1 FNTA FNTB FRS2 FRS3 FYN GDNF GFRA1 GFRA2 GFRA3 GFRA4 GOLGA7 GRB2 GRIN1 GRIN2B GRIN2D HBEGF HGF HRAS ICMT IL17RD IL2 IL2RA IL2RB IL2RG IL3 IL3RA IL5 IL5RA IQGAP1 IRS1 IRS2 ITGA2B ITGB3 JAK1 JAK2 JAK3 KBTBD7 KIT KITLG KL KLB KRAS KSR1 KSR2 LAMTOR2 LAMTOR3 LAT LYPLA1 MAP2K1 MAP2K2 MAP3K11 MAPK1 MAPK12 MAPK3 MARK3 MET MRAS NCAM1 NEFL NF1 NRAS NRG1 NRG2 NRG3 NRG4 NRTN PAQR3 PDE6D PDGFA PDGFB PDGFRA PDGFRB PEA15 PEBP1 PHB1 PIK3CA PIK3CB PIK3R1 PIK3R2 PPP1CB PPP1CC PPP2CA PPP2CB PPP2R1A PPP2R1B PPP2R5A PPP2R5B PPP2R5C PPP2R5D PPP2R5E PPP5C PRKG2 PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMB1 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD11 PSMD12 PSMD13 PSMD14 PSMD2 PSMD3 PSMD6 PSMD7 PSMD8 PSPN PTK2 PTPN3 PTPN7 PTPRA RAF1 RALGDS RANBP9 RAP1A RAP1B RAPGEF2 RASA1 RASA2 RASA3 RASA4 RASAL1 RASAL2 RASAL3 RASGEF1A RASGRF1 RASGRF2 RASGRP1 RASGRP3 RASGRP4 RBX1 RCE1 RET RGL1 RGL2 RGL3 RPS27A SEM1 SHC1 SHC2 SHC3 SHOC2 SOS1 SPRED1 SPRED2 SPRED3 SPTA1 SPTAN1 SPTB SPTBN1 SPTBN2 SPTBN4 SPTBN5 SRC SYNGAP1 TEK TGFA TLN1 UBA52 UBB UBC USP17L2 VCL VWF WDR83 YWHAB ZDHHC9 (see all 266) (see less)

Gene overlap in member pathways for MAPK family signaling cascades SuperPath

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

#	Symbol	Description	Category	# Related Pathways
1	RANBP9	RAN Binding Protein 9	Protein Coding	3
2	CHURC1-FNTB	CHURC1-FNTB Readthrough	Protein Coding	3
3	RASGRP1	RAS Guanyl Releasing Protein 1	Protein Coding	3
4	RASA4	RAS P21 Protein Activator 4	Protein Coding	3
5	PSMD14	Proteasome 26S Subunit, Non-ATPase 14	Protein Coding	3
6	CNKSR1	Connector Enhancer Of Kinase Suppressor Of Ras 1	Protein Coding	3
7	LYPLA1	Lysophospholipase 1	Protein Coding	3
8	NRG3	Neuregulin 3	Protein Coding	3
9	FRS3	Fibroblast Growth Factor Receptor Substrate 3	Protein Coding	3
10	FRS2	Fibroblast Growth Factor Receptor Substrate 2	Protein Coding	3
11	ADRM1	ADRM1 26S Proteasome Ubiquitin Receptor	Protein Coding	3
12	DUSP10	Dual Specificity Phosphatase 10	Protein Coding	3
13	RASGRP4	RAS Guanyl Releasing Protein 4	Protein Coding	3
14	CSF2	Colony Stimulating Factor 2	Protein Coding	3
15	CSF2RA	Colony Stimulating Factor 2 Receptor Subunit Alpha	Protein Coding	3
16	CSF2RB	Colony Stimulating Factor 2 Receptor Subunit Beta	Protein Coding	3
17	CSK	C-Terminal Src Kinase	Protein Coding	3
18	NRG4	Neuregulin 4	Protein Coding	3
19	PAQR3	Progestin And AdipoQ Receptor Family Member 3	Protein Coding	3
20	KLB	Klotho Beta	Protein Coding	3
21	DAB2IP	DAB2 Interacting Protein	Protein Coding	3
22	SPRED1	Sprouty Related EVH1 Domain Containing 1	Protein Coding	3
23	DLG1	Discs Large MAGUK Scaffold Protein 1	Protein Coding	3
24	DLG2	Discs Large MAGUK Scaffold Protein 2	Protein Coding	3
25	DLG3	Discs Large MAGUK Scaffold Protein 3	Protein Coding	3
26	DLG4	Discs Large MAGUK Scaffold Protein 4	Protein Coding	3
27	HBEGF	Heparin Binding EGF Like Growth Factor	Protein Coding	3
28	DUSP1	Dual Specificity Phosphatase 1	Protein Coding	3
29	DUSP2	Dual Specificity Phosphatase 2	Protein Coding	3
30	DUSP4	Dual Specificity Phosphatase 4	Protein Coding	3
31	DUSP5	Dual Specificity Phosphatase 5	Protein Coding	3
32	DUSP6	Dual Specificity Phosphatase 6	Protein Coding	3
33	DUSP7	Dual Specificity Phosphatase 7	Protein Coding	3
34	DUSP8	Dual Specificity Phosphatase 8	Protein Coding	3
35	DUSP9	Dual Specificity Phosphatase 9	Protein Coding	3
36	EGF	Epidermal Growth Factor	Protein Coding	3
37	EGFR	Epidermal Growth Factor Receptor	Protein Coding	3
38	SPRED2	Sprouty Related EVH1 Domain Containing 2	Protein Coding	3
39	ERBB2	Erb-B2 Receptor Tyrosine Kinase 2	Protein Coding	3
40	ERBB3	Erb-B2 Receptor Tyrosine Kinase 3	Protein Coding	3
41	ERBB4	Erb-B2 Receptor Tyrosine Kinase 4	Protein Coding	3
42	EREG	Epiregulin	Protein Coding	3
43	RASGEF1A	RasGEF Domain Family Member 1A	Protein Coding	3
44	FGA	Fibrinogen Alpha Chain	Protein Coding	3
45	FGB	Fibrinogen Beta Chain	Protein Coding	3
46	FGF1	Fibroblast Growth Factor 1	Protein Coding	3
47	FGF2	Fibroblast Growth Factor 2	Protein Coding	3
48	FGF3	Fibroblast Growth Factor 3	Protein Coding	3
49	FGF4	Fibroblast Growth Factor 4	Protein Coding	3
50	FGF5	Fibroblast Growth Factor 5	Protein Coding	3
51	FGF6	Fibroblast Growth Factor 6	Protein Coding	3
52	FGF7	Fibroblast Growth Factor 7	Protein Coding	3
53	FGF8	Fibroblast Growth Factor 8	Protein Coding	3
54	FGF9	Fibroblast Growth Factor 9	Protein Coding	3
55	FGF10	Fibroblast Growth Factor 10	Protein Coding	3
56	FGFR1	Fibroblast Growth Factor Receptor 1	Protein Coding	3
57	FGFR3	Fibroblast Growth Factor Receptor 3	Protein Coding	3
58	FGFR2	Fibroblast Growth Factor Receptor 2	Protein Coding	3
59	FGFR4	Fibroblast Growth Factor Receptor 4	Protein Coding	3
60	FGG	Fibrinogen Gamma Chain	Protein Coding	3
61	MRAS	Muscle RAS Oncogene Homolog	Protein Coding	3
62	RASA3	RAS P21 Protein Activator 3	Protein Coding	3
63	CNKSR2	Connector Enhancer Of Kinase Suppressor Of Ras 2	Protein Coding	3
64	RGL1	Ral Guanine Nucleotide Dissociation Stimulator Like 1	Protein Coding	3
65	FLT3	Fms Related Receptor Tyrosine Kinase 3	Protein Coding	3
66	FLT3LG	Fms Related Receptor Tyrosine Kinase 3 Ligand	Protein Coding	3
67	FN1	Fibronectin 1	Protein Coding	3
68	FNTA	Farnesyltransferase, CAAX Box, Subunit Alpha	Protein Coding	3
69	FNTB	Farnesyltransferase, CAAX Box, Subunit Beta	Protein Coding	3
70	ICMT	Isoprenylcysteine Carboxyl Methyltransferase	Protein Coding	3
71	FYN	FYN Proto-Oncogene, Src Family Tyrosine Kinase	Protein Coding	3
72	EPGN	Epithelial Mitogen	Protein Coding	3
73	SHC2	SHC Adaptor Protein 2	Protein Coding	3
74	RASGRP3	RAS Guanyl Releasing Protein 3	Protein Coding	3
75	FGF20	Fibroblast Growth Factor 20	Protein Coding	3
76	GDNF	Glial Cell Derived Neurotrophic Factor	Protein Coding	3
77	GFRA1	GDNF Family Receptor Alpha 1	Protein Coding	3
78	GFRA2	GDNF Family Receptor Alpha 2	Protein Coding	3
79	GFRA3	GDNF Family Receptor Alpha 3	Protein Coding	3
80	FGF22	Fibroblast Growth Factor 22	Protein Coding	3
81	LAT	Linker For Activation Of T Cells	Protein Coding	3
82	KSR2	Kinase Suppressor Of Ras 2	Protein Coding	3
83	ANGPT1	Angiopoietin 1	Protein Coding	3
84	GRB2	Growth Factor Receptor Bound Protein 2	Protein Coding	3
85	LAMTOR2	Late Endosomal/Lysosomal Adaptor, MAPK And MTOR Activator 2	Protein Coding	3
86	GRIN1	Glutamate Ionotropic Receptor NMDA Type Subunit 1	Protein Coding	3
87	GRIN2B	Glutamate Ionotropic Receptor NMDA Type Subunit 2B	Protein Coding	3
88	GRIN2D	Glutamate Ionotropic Receptor NMDA Type Subunit 2D	Protein Coding	3
89	HGF	Hepatocyte Growth Factor	Protein Coding	3
90	NRG1	Neuregulin 1	Protein Coding	3
91	HRAS	HRas Proto-Oncogene, GTPase	Protein Coding	3
92	IL2	Interleukin 2	Protein Coding	3
93	IL2RA	Interleukin 2 Receptor Subunit Alpha	Protein Coding	3
94	IL2RB	Interleukin 2 Receptor Subunit Beta	Protein Coding	3
95	IL2RG	Interleukin 2 Receptor Subunit Gamma	Protein Coding	3
96	IL3	Interleukin 3	Protein Coding	3
97	IL3RA	Interleukin 3 Receptor Subunit Alpha	Protein Coding	3
98	IL5	Interleukin 5	Protein Coding	3
99	IL5RA	Interleukin 5 Receptor Subunit Alpha	Protein Coding	3
100	IRS1	Insulin Receptor Substrate 1	Protein Coding	3
101	ITGA2B	Integrin Subunit Alpha 2b	Protein Coding	3
102	ARAF	A-Raf Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	3
103	ITGB3	Integrin Subunit Beta 3	Protein Coding	3
104	JAK1	Janus Kinase 1	Protein Coding	3
105	JAK2	Janus Kinase 2	Protein Coding	3
106	JAK3	Janus Kinase 3	Protein Coding	3
107	AREG	Amphiregulin	Protein Coding	3
108	USP17L2	Ubiquitin Specific Peptidase 17 Like Family Member 2	Protein Coding	3
109	KIT	KIT Proto-Oncogene, Receptor Tyrosine Kinase	Protein Coding	3
110	KRAS	KRAS Proto-Oncogene, GTPase	Protein Coding	3
111	SPRED3	Sprouty Related EVH1 Domain Containing 3	Protein Coding	3
112	ARL2	ARF Like GTPase 2	Protein Coding	3
113	ARRB1	Arrestin Beta 1	Protein Coding	3
114	ARRB2	Arrestin Beta 2	Protein Coding	3
115	MARK3	Microtubule Affinity Regulating Kinase 3	Protein Coding	3
116	MET	MET Proto-Oncogene, Receptor Tyrosine Kinase	Protein Coding	3
117	KITLG	KIT Ligand	Protein Coding	3
118	MAP3K11	Mitogen-Activated Protein Kinase Kinase Kinase 11	Protein Coding	3
119	NCAM1	Neural Cell Adhesion Molecule 1	Protein Coding	3
120	NEFL	Neurofilament Light Chain	Protein Coding	3
121	NF1	Neurofibromin 1	Protein Coding	3
122	NRAS	NRAS Proto-Oncogene, GTPase	Protein Coding	3
123	NRTN	Neurturin	Protein Coding	3
124	PEBP1	Phosphatidylethanolamine Binding Protein 1	Protein Coding	3
125	ABHD17B	Abhydrolase Domain Containing 17B, Depalmitoylase	Protein Coding	3
126	ZDHHC9	ZDHHC Palmitoyltransferase 9	Protein Coding	3
127	GOLGA7	Golgin A7	Protein Coding	3
128	SPTBN5	Spectrin Beta, Non-Erythrocytic 5	Protein Coding	3
129	PDE6D	Phosphodiesterase 6D	Protein Coding	3
130	PDGFA	Platelet Derived Growth Factor Subunit A	Protein Coding	3
131	PDGFB	Platelet Derived Growth Factor Subunit B	Protein Coding	3
132	PDGFRA	Platelet Derived Growth Factor Receptor Alpha	Protein Coding	3
133	PDGFRB	Platelet Derived Growth Factor Receptor Beta	Protein Coding	3
134	PHB1	Prohibitin 1	Protein Coding	3
135	PIK3CA	Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha	Protein Coding	3
136	PIK3CB	Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Beta	Protein Coding	3
137	PIK3R1	Phosphoinositide-3-Kinase Regulatory Subunit 1	Protein Coding	3
138	PIK3R2	Phosphoinositide-3-Kinase Regulatory Subunit 2	Protein Coding	3
139	SHC3	SHC Adaptor Protein 3	Protein Coding	3
140	APBB1IP	Amyloid Beta Precursor Protein Binding Family B Member 1 Interacting Protein	Protein Coding	3
141	IL17RD	Interleukin 17 Receptor D	Protein Coding	3
142	PPP1CB	Protein Phosphatase 1 Catalytic Subunit Beta	Protein Coding	3
143	PPP1CC	Protein Phosphatase 1 Catalytic Subunit Gamma	Protein Coding	3
144	PPP2CA	Protein Phosphatase 2 Catalytic Subunit Alpha	Protein Coding	3
145	PPP2CB	Protein Phosphatase 2 Catalytic Subunit Beta	Protein Coding	3
146	PPP2R1A	Protein Phosphatase 2 Scaffold Subunit Aalpha	Protein Coding	3
147	PPP2R1B	Protein Phosphatase 2 Scaffold Subunit Abeta	Protein Coding	3
148	PPP2R5A	Protein Phosphatase 2 Regulatory Subunit B''Alpha	Protein Coding	3
149	PPP2R5B	Protein Phosphatase 2 Regulatory Subunit B''Beta	Protein Coding	3
150	PPP2R5C	Protein Phosphatase 2 Regulatory Subunit B''Gamma	Protein Coding	3
151	PPP2R5D	Protein Phosphatase 2 Regulatory Subunit B''Delta	Protein Coding	3
152	PPP2R5E	Protein Phosphatase 2 Regulatory Subunit B''Epsilon	Protein Coding	3
153	PPP5C	Protein Phosphatase 5 Catalytic Subunit	Protein Coding	3
154	PRKG2	Protein Kinase CGMP-Dependent 2	Protein Coding	3
155	MAPK1	Mitogen-Activated Protein Kinase 1	Protein Coding	3
156	MAPK3	Mitogen-Activated Protein Kinase 3	Protein Coding	3
157	MAP2K1	Mitogen-Activated Protein Kinase Kinase 1	Protein Coding	3
158	MAP2K2	Mitogen-Activated Protein Kinase Kinase 2	Protein Coding	3
159	PSPN	Persephin	Protein Coding	3
160	PSMA1	Proteasome 20S Subunit Alpha 1	Protein Coding	3
161	PSMA2	Proteasome 20S Subunit Alpha 2	Protein Coding	3
162	PSMA3	Proteasome 20S Subunit Alpha 3	Protein Coding	3
163	PSMA4	Proteasome 20S Subunit Alpha 4	Protein Coding	3
164	PSMA5	Proteasome 20S Subunit Alpha 5	Protein Coding	3
165	PSMA6	Proteasome 20S Subunit Alpha 6	Protein Coding	3
166	PSMA7	Proteasome 20S Subunit Alpha 7	Protein Coding	3
167	PSMB1	Proteasome 20S Subunit Beta 1	Protein Coding	3
168	PSMB2	Proteasome 20S Subunit Beta 2	Protein Coding	3
169	PSMB3	Proteasome 20S Subunit Beta 3	Protein Coding	3
170	PSMB4	Proteasome 20S Subunit Beta 4	Protein Coding	3
171	PSMB5	Proteasome 20S Subunit Beta 5	Protein Coding	3
172	PSMB6	Proteasome 20S Subunit Beta 6	Protein Coding	3
173	PSMB7	Proteasome 20S Subunit Beta 7	Protein Coding	3
174	PSMC1	Proteasome 26S Subunit, ATPase 1	Protein Coding	3
175	PSMC2	Proteasome 26S Subunit, ATPase 2	Protein Coding	3
176	PSMC3	Proteasome 26S Subunit, ATPase 3	Protein Coding	3
177	PSMC4	Proteasome 26S Subunit, ATPase 4	Protein Coding	3
178	PSMC5	Proteasome 26S Subunit, ATPase 5	Protein Coding	3
179	PSMC6	Proteasome 26S Subunit, ATPase 6	Protein Coding	3
180	PSMD1	Proteasome 26S Subunit, Non-ATPase 1	Protein Coding	3
181	PSMD2	Proteasome 26S Subunit Ubiquitin Receptor, Non-ATPase 2	Protein Coding	3
182	PSMD3	Proteasome 26S Subunit, Non-ATPase 3	Protein Coding	3
183	PSMD7	Proteasome 26S Subunit, Non-ATPase 7	Protein Coding	3
184	RGL3	Ral Guanine Nucleotide Dissociation Stimulator Like 3	Protein Coding	3
185	PSMD8	Proteasome 26S Subunit, Non-ATPase 8	Protein Coding	3
186	PSMD11	Proteasome 26S Subunit, Non-ATPase 11	Protein Coding	3
187	PSMD12	Proteasome 26S Subunit, Non-ATPase 12	Protein Coding	3
188	PSMD13	Proteasome 26S Subunit, Non-ATPase 13	Protein Coding	3
189	PTK2	Protein Tyrosine Kinase 2	Protein Coding	3
190	SPTBN4	Spectrin Beta, Non-Erythrocytic 4	Protein Coding	3
191	PTPN3	Protein Tyrosine Phosphatase Non-Receptor Type 3	Protein Coding	3
192	PTPN7	Protein Tyrosine Phosphatase Non-Receptor Type 7	Protein Coding	3
193	PTPRA	Protein Tyrosine Phosphatase Receptor Type A	Protein Coding	3
194	ABHD17C	Abhydrolase Domain Containing 17C, Depalmitoylase	Protein Coding	3
195	RGL2	Ral Guanine Nucleotide Dissociation Stimulator Like 2	Protein Coding	3
196	RAF1	Raf-1 Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	3
197	RALGDS	Ral Guanine Nucleotide Dissociation Stimulator	Protein Coding	3
198	RAP1A	RAP1A, Member Of RAS Oncogene Family	Protein Coding	3
199	RAP1B	RAP1B, Member Of RAS Oncogene Family	Protein Coding	3
200	RASA1	RAS P21 Protein Activator 1	Protein Coding	3
201	RASA2	RAS P21 Protein Activator 2	Protein Coding	3
202	RASGRF1	Ras Protein Specific Guanine Nucleotide Releasing Factor 1	Protein Coding	3
203	RASGRF2	Ras Protein Specific Guanine Nucleotide Releasing Factor 2	Protein Coding	3
204	RET	Ret Proto-Oncogene	Protein Coding	3
205	BCL2L1	BCL2 Like 1	Protein Coding	3
206	ACTB	Actin Beta	Protein Coding	3
207	RPS27A	Ribosomal Protein S27a	Protein Coding	3
208	MAPK12	Mitogen-Activated Protein Kinase 12	Protein Coding	3
209	GFRA4	GDNF Family Receptor Alpha 4	Protein Coding	3
210	SHC1	SHC Adaptor Protein 1	Protein Coding	3
211	RASAL3	RAS Protein Activator Like 3	Protein Coding	3
212	SOS1	SOS Ras/Rac Guanine Nucleotide Exchange Factor 1	Protein Coding	3
213	SPTA1	Spectrin Alpha, Erythrocytic 1	Protein Coding	3
214	SPTAN1	Spectrin Alpha, Non-Erythrocytic 1	Protein Coding	3
215	SPTB	Spectrin Beta, Erythrocytic	Protein Coding	3
216	SPTBN1	Spectrin Beta, Non-Erythrocytic 1	Protein Coding	3
217	SPTBN2	Spectrin Beta, Non-Erythrocytic 2	Protein Coding	3
218	SRC	SRC Proto-Oncogene, Non-Receptor Tyrosine Kinase	Protein Coding	3
219	BRAF	B-Raf Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	3
220	BTC	Betacellulin	Protein Coding	3
221	TEK	TEK Receptor Tyrosine Kinase	Protein Coding	3
222	TGFA	Transforming Growth Factor Alpha	Protein Coding	3
223	TLN1	Talin 1	Protein Coding	3
224	ACTG1	Actin Gamma 1	Protein Coding	3
225	UBA52	Ubiquitin A-52 Residue Ribosomal Protein Fusion Product 1	Protein Coding	3
226	UBB	Ubiquitin B	Protein Coding	3
227	UBC	Ubiquitin C	Protein Coding	3
228	VCL	Vinculin	Protein Coding	3
229	VWF	Von Willebrand Factor	Protein Coding	3
230	YWHAB	Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Beta	Protein Coding	3
231	SEM1	SEM1 26S Proteasome Subunit	Protein Coding	3
232	CALM1	Calmodulin 1	Protein Coding	3
233	SHOC2	SHOC2 Leucine Rich Repeat Scaffold Protein	Protein Coding	3
234	CALM2	Calmodulin 2	Protein Coding	3
235	FGF23	Fibroblast Growth Factor 23	Protein Coding	3
236	CALM3	Calmodulin 3	Protein Coding	3
237	DUSP16	Dual Specificity Phosphatase 16	Protein Coding	3
238	CAMK2A	Calcium/Calmodulin Dependent Protein Kinase II Alpha	Protein Coding	3
239	CAMK2B	Calcium/Calmodulin Dependent Protein Kinase II Beta	Protein Coding	3
240	CAMK2D	Calcium/Calmodulin Dependent Protein Kinase II Delta	Protein Coding	3
241	CAMK2G	Calcium/Calmodulin Dependent Protein Kinase II Gamma	Protein Coding	3
242	ABHD17A	Abhydrolase Domain Containing 17A, Depalmitoylase	Protein Coding	3
243	BRAP	BRCA1 Associated Protein	Protein Coding	3
244	KBTBD7	Kelch Repeat And BTB Domain Containing 7	Protein Coding	3
245	WDR83	WD Repeat Domain 83	Protein Coding	3
246	RASAL1	RAS Protein Activator Like 1	Protein Coding	3
247	CUL3	Cullin 3	Protein Coding	3
248	LAMTOR3	Late Endosomal/Lysosomal Adaptor, MAPK And MTOR Activator 3	Protein Coding	3
249	IRS2	Insulin Receptor Substrate 2	Protein Coding	3
250	PEA15	Proliferation And Apoptosis Adaptor Protein 15	Protein Coding	3
251	ACTN2	Actinin Alpha 2	Protein Coding	3
252	FGF18	Fibroblast Growth Factor 18	Protein Coding	3
253	FGF17	Fibroblast Growth Factor 17	Protein Coding	3
254	FGF16	Fibroblast Growth Factor 16	Protein Coding	3
255	IQGAP1	IQ Motif Containing GTPase Activating Protein 1	Protein Coding	3
256	SYNGAP1	Synaptic Ras GTPase Activating Protein 1	Protein Coding	3
257	KSR1	Kinase Suppressor Of Ras 1	Protein Coding	3
258	ARTN	Artemin	Protein Coding	3
259	KL	Klotho	Protein Coding	3
260	RASAL2	RAS Protein Activator Like 2	Protein Coding	3
261	NRG2	Neuregulin 2	Protein Coding	3
262	RAPGEF2	Rap Guanine Nucleotide Exchange Factor 2	Protein Coding	3
263	PSMD6	Proteasome 26S Subunit, Non-ATPase 6	Protein Coding	3
264	FGF19	Fibroblast Growth Factor 19	Protein Coding	3
265	RBX1	Ring-Box 1	Protein Coding	3
266	RCE1	Ras Converting CAAX Endopeptidase 1	Protein Coding	3
267	IL6	Interleukin 6	Protein Coding	2
268	IL6R	Interleukin 6 Receptor	Protein Coding	2
269	IL6ST	Interleukin 6 Cytokine Family Signal Transducer	Protein Coding	2
270	PTPN11	Protein Tyrosine Phosphatase Non-Receptor Type 11	Protein Coding	2
271	TYK2	Tyrosine Kinase 2	Protein Coding	2
272	CDK1	Cyclin Dependent Kinase 1	Protein Coding	2
273	CDC42EP2	CDC42 Effector Protein 2	Protein Coding	1
274	CDC42EP3	CDC42 Effector Protein 3	Protein Coding	1
275	IGF2BP1	Insulin Like Growth Factor 2 MRNA Binding Protein 1	Protein Coding	1
276	CDC42EP5	CDC42 Effector Protein 5	Protein Coding	1
277	AGO3	Argonaute RISC Catalytic Component 3	Protein Coding	1
278	AGO4	Argonaute RISC Component 4	Protein Coding	1
279	ETV4	ETS Variant Transcription Factor 4	Protein Coding	1
280	FOXO1	Forkhead Box O1	Protein Coding	1
281	FOXO3	Forkhead Box O3	Protein Coding	1
282	TNRC6B	Trinucleotide Repeat Containing Adaptor 6B	Protein Coding	1
283	AGO1	Argonaute RISC Component 1	Protein Coding	1
284	AGO2	Argonaute RISC Catalytic Component 2	Protein Coding	1
285	TNRC6A	Trinucleotide Repeat Containing Adaptor 6A	Protein Coding	1
286	HSPB1	Heat Shock Protein Family B (Small) Member 1	Protein Coding	1
287	DNAJB1	DnaJ Heat Shock Protein Family (Hsp40) Member B1	Protein Coding	1
288	JUN	Jun Proto-Oncogene, AP-1 Transcription Factor Subunit	Protein Coding	1
289	MOV10	Mov10 RNA Helicase	Protein Coding	1
290	MYC	MYC Proto-Oncogene, BHLH Transcription Factor	Protein Coding	1
291	PAK1	P21 (RAC1) Activated Kinase 1	Protein Coding	1
292	PAK2	P21 (RAC1) Activated Kinase 2	Protein Coding	1
293	PAK3	P21 (RAC1) Activated Kinase 3	Protein Coding	1
294	PRKACA	Protein Kinase CAMP-Activated Catalytic Subunit Alpha	Protein Coding	1
295	PRKACB	Protein Kinase CAMP-Activated Catalytic Subunit Beta	Protein Coding	1
296	PRKACG	Protein Kinase CAMP-Activated Catalytic Subunit Gamma	Protein Coding	1
297	MAPK4	Mitogen-Activated Protein Kinase 4	Protein Coding	1
298	MAPK6	Mitogen-Activated Protein Kinase 6	Protein Coding	1
299	TNRC6C	Trinucleotide Repeat Containing Adaptor 6C	Protein Coding	1
300	RAC1	Rac Family Small GTPase 1	Protein Coding	1
301	RAG1	Recombination Activating 1	Protein Coding	1
302	RAG2	Recombination Activating 2	Protein Coding	1
303	XPO1	Exportin 1	Protein Coding	1
304	NCOA3	Nuclear Receptor Coactivator 3	Protein Coding	1
305	MAPKAPK5	MAPK Activated Protein Kinase 5	Protein Coding	1
306	CDC14B	Cell Division Cycle 14B	Protein Coding	1
307	CDC14A	Cell Division Cycle 14A	Protein Coding	1
308	CCND3	Cyclin D3	Protein Coding	1
309	KALRN	Kalirin RhoGEF Kinase	Protein Coding	1
310	SEPTIN7	Septin 7	Protein Coding	1
311	CDC42	Cell Division Cycle 42	Protein Coding	1

Disorders associated with MAPK family signaling cascades SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Rasopathy	Enrichment	BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MRAS, NF1, NRAS, PPP1CB, PTPN11, RAF1, SHOC2, SOS1	16.00
2	Lung non-small cell carcinoma	Enrichment	BRAF, EGFR, ERBB2, HRAS, KRAS, MAP2K1, NRAS, PIK3CA	11.87
3	Noonan syndrome and noonan-related syndrome	Enrichment	BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF1, SHOC2, SOS1, SPRED1	11.12
4	Noonan syndrome 1	Enrichment	BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MRAS, NRAS, PPP1CB, PTPN11, RAF1, RASA2, SHOC2, SOS1, SPRED2	11.03
5	Nevus, epidermal	Enrichment	FGFR3, HRAS, KRAS, NRAS, PIK3CA	7.25
6	Bladder cancer	Enrichment	EGFR, ERBB2, ERBB3, FGFR3, HRAS, KRAS, NF1, PIK3CA	7.23
7	Noonan syndrome 3	Enrichment	HRAS, KRAS, PTPN11, RAF1, SOS1	7.20
8	Cardiofaciocutaneous syndrome 1	Enrichment	BRAF, KRAS, MAP2K1, MAP2K2	6.84
9	Cardiofaciocutaneous syndrome	Enrichment	BRAF, KRAS, MAP2K1, MAP2K2	6.84
10	Arteriovenous malformation	Enrichment	HRAS, MAP2K1, PIK3CA, RASA1, TEK	6.48
11	Myopathy, x-linked, with excessive autophagy	Enrichment	HRAS, MAP2K1, PIK3CA, RASA1, TEK	6.19
12	Lip and oral cavity carcinoma	Enrichment	BRAF, EGFR, HRAS, KIT, PIK3CA	5.70
13	Lung squamous cell carcinoma	Enrichment	EGFR, FGFR3, KRAS, PIK3CA	5.68
14	Lung cancer	Enrichment	BRAF, EGFR, ERBB2, KRAS, MET, PIK3CA, PPP2R1B	5.64
15	Capillary malformation-arteriovenous malformation 1	Enrichment	KRAS, MAP2K1, PIK3CA, RASA1	5.32
16	Pilomyxoid astrocytoma	Enrichment	BRAF, FGFR1, KRAS, RAF1	5.32
17	Lung cancer susceptibility 3	Enrichment	BRAF, EGFR, ERBB2, FGF10, KRAS	5.32
18	Lacrimoauriculodentodigital syndrome 1	Enrichment	FGF10, FGFR2, FGFR3	5.13
19	Langerhans cell histiocytosis	Enrichment	BRAF, MAP2K1, NRAS	5.13
20	Dysfibrinogenemia, congenital	Enrichment	FGA, FGB, FGG	5.13
21	Familial dysfibrinogenemia	Enrichment	FGA, FGB, FGG	5.13
22	Familial hypofibrinogenemia	Enrichment	FGA, FGB, FGG	5.13
23	Colorectal cancer	Enrichment	BRAF, ERBB2, FGFR2, FGFR3, MET, NRAS, PIK3CA, PIK3R1, RET, SRC	5.12
24	Melanocytic nevus syndrome, congenital	Enrichment	BRAF, HRAS, NRAS, RAF1	5.02
25	Hirschsprung disease 1	Enrichment	ERBB2, ERBB3, GDNF, NRG3, NRTN, RET	4.76
26	Arteriovenous malformations of the brain	Enrichment	BRAF, EGFR, IL17RD, IL6, KRAS	4.54
27	Schimmelpenning-feuerstein-mims syndrome	Enrichment	HRAS, KRAS, NRAS	4.53
28	Afibrinogenemia, congenital	Enrichment	FGA, FGB, FGG	4.53
29	Noonan syndrome with multiple lentigines	Enrichment	BRAF, PTPN11, RAF1	4.50
30	Juvenile myelomonocytic leukemia	Enrichment	KRAS, NF1, NRAS, PTPN11	4.16
31	Kallmann syndrome	Enrichment	DUSP6, FGF17, FGF8, FGFR1, IL17RD	4.15
32	Primary hypereosinophilic syndrome	Enrichment	FGFR1, PDGFRA, PDGFRB	4.14
33	Nk-cell enteropathy	Enrichment	CUL3, ERBB4, JAK3, PIK3CB	4.05
34	Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative	Enrichment	JAK3, RAG1, RAG2	3.94
35	Complex neurodevelopmental disorder	Enrichment	AGO1, AGO2, CUL3, DLG4, GRIN2B, PAK3, PPP2CA, PSMD12, SPTBN1, SYNGAP1, TNRC6B	3.88
36	Testicular germ cell tumor	Enrichment	FGFR3, KIT, KITLG	3.85
37	Differentiated thyroid carcinoma	Enrichment	BRAF, HRAS, KRAS, NRAS, RET	3.65
38	Thyroid cancer, nonmedullary, 2	Enrichment	BRAF, HRAS, NRAS	3.61
39	Gallbladder cancer	Enrichment	BRAF, KRAS, PIK3CA	3.61
40	Follicular thyroid carcinoma	Enrichment	BRAF, HRAS, NRAS	3.61
41	Normosmic congenital hypogonadotropic hypogonadism	Enrichment	DUSP6, FGF17, FGF8, FGFR1	3.45
42	Thrombocytopenia	Enrichment	FGG, ITGA2B, ITGB3, PTPN11, SRC, VWF	3.43
43	Pyropoikilocytosis, hereditary	Enrichment	SPTA1, SPTB	3.42
44	Intellectual developmental disorder, x-linked, syndromic, raymond type	Enrichment	SPTAN1, ZDHHC9	3.42
45	Pulmonic stenosis	Enrichment	BRAF, SOS1	3.42
46	Keratosis, seborrheic	Enrichment	FGFR3, PIK3CA	3.42
47	Pfeiffer syndrome	Enrichment	FGFR1, FGFR2	3.42
48	Jackson-weiss syndrome	Enrichment	FGFR1, FGFR2	3.42
49	Encephalocraniocutaneous lipomatosis	Enrichment	FGFR1, KRAS	3.42
50	Ras-associated autoimmune leukoproliferative disorder	Enrichment	KRAS, NRAS	3.42
51	Noonan syndrome-like disorder with loose anagen hair	Enrichment	PPP1CB, SHOC2	3.42
52	Rosette-forming glioneuronal tumor	Enrichment	FGFR1, PIK3CA	3.42
53	Baraitser-winter cerebrofrontofacial syndrome	Enrichment	ACTB, ACTG1	3.42
54	Catecholaminergic polymorphic ventricular tachycardia	Enrichment	CALM1, CALM2, CALM3	3.41
55	Fibrolamellar carcinoma	Enrichment	DNAJB1, PRKACA	3.28
56	Renal agenesis, bilateral	Enrichment	FGF20, GFRA1, RET	3.24
57	Myeloma, multiple	Enrichment	BRAF, FGFR3, FLT3, KRAS, NF1, PIK3R2	3.12
58	Ovarian cancer	Enrichment	EGFR, ERBB2, KIT, KRAS, MET, PDGFRA, PIK3CA, RET	3.08
59	Leukemia, acute myeloid	Enrichment	FLT3, JAK2, KIT, KRAS, NRAS	2.98
60	Crouzon syndrome	Enrichment	FGFR2, FGFR3	2.95
61	Tumoral calcinosis, hyperphosphatemic, familial, 1	Enrichment	FGF23, KL	2.95
62	Bleeding disorder, platelet-type, 16	Enrichment	ITGA2B, ITGB3	2.95
63	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	Enrichment	PIK3CA, PIK3R1	2.95
64	Large congenital melanocytic nevus	Enrichment	HRAS, NRAS	2.95
65	Breast implant-associated anaplastic large cell lymphoma	Enrichment	JAK1, JAK2	2.95
66	Testicular germ cell cancer	Enrichment	FGFR3, KIT	2.95
67	Spermatocytoma	Enrichment	FGFR3, HRAS	2.95
68	Omenn syndrome	Enrichment	IL2RG, RAG1, RAG2	2.90
69	Gastric cancer	Enrichment	ERBB2, FGFR2, KRAS, NF1, PIK3CA	2.84
70	Combined cellular and humoral immune defects with granulomas	Enrichment	RAG1, RAG2	2.81
71	Breast cancer	Enrichment	IL2, JUN, KRAS, PHB1, PIK3CA, RET, SHC1	2.79
72	Protein-deficiency anemia	Enrichment	NRAS, SPTA1, SPTB	2.73
73	Microcephaly	Enrichment	ACTB, ACTG1, CAMK2B, GRIN2B, MAPK1, PAK3, PSMC3, PTPN11, SYNGAP1	2.68
74	Neurofibromatosis-noonan syndrome	Enrichment	MAP2K2, NF1	2.65
75	Megalencephaly-capillary malformation-polymicrogyria syndrome	Enrichment	PIK3CA, PIK3R2	2.65
76	Saethre-chotzen syndrome	Enrichment	FGFR2, FGFR3	2.65
77	Chronic myelogenous leukemia, bcr-abl1 positive	Enrichment	KRAS, NRAS	2.65
78	Pilocytic astrocytoma	Enrichment	KRAS, NF1	2.65
79	Hereditary elliptocytosis	Enrichment	SPTA1, SPTB	2.65
80	Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)	Enrichment	FLT3, KIT	2.65
81	Long qt syndrome 1	Enrichment	CALM1, CALM2, CALM3, PTPN11	2.54
82	Autosomal dominant non-syndromic intellectual disability	Enrichment	CAMK2A, CAMK2B, ERBB4, GRIN1, GRIN2B	2.54
83	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	Enrichment	CDC42, PTPN11	2.52
84	Gliosarcoma	Enrichment	EGFR, FGFR1, FGFR3	2.46
85	Hemifacial hyperplasia	Enrichment	FGFR2, FGFR3	2.43
86	Capillary malformations, congenital	Enrichment	PIK3CA, RASA1	2.43
87	Acute myeloid leukemia with maturation	Enrichment	FLT3, KIT	2.43
88	Holoprosencephaly	Enrichment	FGF8, FGFR1	2.43
89	Acute myeloid leukemia with t(8;21)(q22;q22) translocation	Enrichment	FLT3, KIT	2.43
90	Hereditary pulmonary alveolar proteinosis	Enrichment	CSF2RA, CSF2RB	2.43
91	Dandy-walker syndrome	Enrichment	BRAF, PDGFRB, PPP1CB	2.38
92	Giant cell glioblastoma	Enrichment	EGFR, FGFR1, FGFR3	2.38
93	Rhabdomyosarcoma 2	Enrichment	FOXO1, NF1	2.30
94	Klippel-trenaunay-weber syndrome	Enrichment	PIK3CA, RASA1	2.26
95	Cowden syndrome 1	Enrichment	EGFR, PIK3CA	2.26
96	Holoprosencephaly 1	Enrichment	FGF8, FGFR1	2.26
97	Hereditary spherocytosis	Enrichment	SPTA1, SPTB	2.26
98	Fetomaternal alloimmune thrombocytopenia 1	Enrichment	ITGA2B, ITGB3	2.26
99	Breast adenocarcinoma	Enrichment	KRAS, PIK3CA	2.26
100	Patent ductus arteriosus	Enrichment	PSMC3, PTPN11	2.24
101	Craniosynostosis	Enrichment	FGFR2, FGFR3, GRIN2B	2.18
102	Myelofibrosis	Enrichment	JAK2, SRC	2.12
103	Glanzmann thrombasthenia 1	Enrichment	ITGA2B, ITGB3	2.12
104	Gastrointestinal stromal tumor	Enrichment	KIT, PDGFRA	2.12
105	Leukemia, chronic myeloid	Enrichment	KRAS, NRAS	2.12
106	Hemolytic anemia	Enrichment	SPTA1, SPTB	2.12
107	Oligoarticular juvenile idiopathic arthritis	Enrichment	IL2RA, IL2RB	2.12
108	Rheumatoid factor-negative juvenile idiopathic arthritis	Enrichment	IL2RA, IL2RB	2.12
109	Hepatocellular carcinoma	Enrichment	MET, PIK3CA, RET	2.06
110	Basal ganglia calcification, idiopathic, 1	Enrichment	PDGFB, PDGFRB	2.00
111	Neurofibromatosis, type i	Enrichment	NF1, SPRED1	1.90
112	Leukemia, acute lymphoblastic 3	Enrichment	JAK2, NF1	1.90
113	Adult hepatocellular carcinoma	Enrichment	EGF, PIK3CA	1.90
114	Congenital central hypoventilation syndrome	Enrichment	GDNF, RET	1.90
115	Ventricular septal defect	Enrichment	BRAF, TEK	1.90
116	Ewing sarcoma	Enrichment	ETV4, NF1	1.87
117	Autosomal dominant macrothrombocytopenia	Enrichment	ITGA2B, ITGB3	1.81
118	Ellis-van creveld syndrome	Enrichment	PRKACA, PRKACB	1.77
119	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	Enrichment	RAC1, TNRC6B	1.77
120	Inherited cancer-predisposing syndrome	Enrichment	EGFR, KIT, MET, NF1, PDGFRA, PTPN11, RET	1.77
121	Pectus excavatum	Enrichment	PTPN11, SHOC2	1.71
122	Specific learning disability	Enrichment	MAPK1, PTPN11	1.71
123	Multiple endocrine neoplasia, type iib	Enrichment	RET	1.71
124	Elliptocytosis 2	Enrichment	SPTA1	1.71
125	Erythroleukemia, familial	Enrichment	ERBB3	1.71
126	Hypochondroplasia	Enrichment	FGFR3	1.71
127	Macrodactyly	Enrichment	PIK3CA	1.71
128	Beare-stevenson cutis gyrata syndrome	Enrichment	FGFR2	1.71
129	Paget disease, extramammary	Enrichment	ERBB2	1.71
130	Osteoglophonic dysplasia	Enrichment	FGFR1	1.71
131	Cystic angiomatosis of bone, diffuse	Enrichment	RASA1	1.71
132	Thanatophoric dysplasia, type i	Enrichment	FGFR3	1.71
133	Trigonocephaly 1	Enrichment	FGFR1	1.71
134	Von willebrand disease, type 1	Enrichment	VWF	1.71
135	Baraitser-winter syndrome 1	Enrichment	ACTB	1.71
136	Oculoectodermal syndrome	Enrichment	KRAS	1.71
137	Muenke syndrome	Enrichment	FGFR3	1.71
138	Pallister-killian syndrome	Enrichment	ARAF	1.71
139	Premature aging syndrome, penttinen type	Enrichment	PDGFRB	1.71
140	Surfactant metabolism dysfunction, pulmonary, 4	Enrichment	CSF2RA	1.71
141	Type 1 diabetes mellitus 10	Enrichment	IL2RA	1.71
142	Immunodeficiency due to defect in mapbp-interacting protein	Enrichment	LAMTOR2	1.71
143	Spinocerebellar ataxia 5	Enrichment	SPTBN2	1.71
144	Legius syndrome	Enrichment	SPRED1	1.71
145	Noonan syndrome 5	Enrichment	RAF1	1.71
146	Hypomagnesemia 4, renal	Enrichment	EGF	1.71
147	Noonan syndrome 4	Enrichment	SOS1	1.71
148	Hypereosinophilic syndrome, idiopathic	Enrichment	PDGFRA	1.71
149	Deafness, autosomal recessive 39	Enrichment	HGF	1.71
150	Mastocytosis, cutaneous	Enrichment	KIT	1.71
151	Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction	Enrichment	ACTN2	1.71
152	Scaphocephaly, maxillary retrusion, and impaired intellectual development	Enrichment	FGFR2	1.71
153	Melorheostosis, isolated	Enrichment	MAP2K1	1.71
154	Megalencephaly, autosomal dominant	Enrichment	PIK3CA	1.71
155	Noonan syndrome 7	Enrichment	BRAF	1.71
156	Leopard syndrome 3	Enrichment	BRAF	1.71
157	Apert syndrome	Enrichment	FGFR2	1.71
158	Basal ganglia calcification, idiopathic, 5	Enrichment	PDGFB	1.71
159	Hyperpigmentation with or without hypopigmentation, familial progressive	Enrichment	KITLG	1.71
160	Cardiomyopathy, dilated, 1nn	Enrichment	RAF1	1.71
161	Developmental and epileptic encephalopathy 5	Enrichment	SPTAN1	1.71
162	Cowden syndrome 5	Enrichment	PIK3CA	1.71
163	Von willebrand disease, type 2	Enrichment	VWF	1.71
164	Cardiofaciocutaneous syndrome 3	Enrichment	MAP2K1	1.71
165	Myofibromatosis, infantile, 1	Enrichment	PDGFRB	1.71
166	Pseudohypoaldosteronism, type iie	Enrichment	CUL3	1.71
167	Melanosis, neurocutaneous	Enrichment	NRAS	1.71
168	Thanatophoric dysplasia, type ii	Enrichment	FGFR3	1.71
169	Lethal congenital contracture syndrome 2	Enrichment	ERBB3	1.71
170	Charcot-marie-tooth disease, demyelinating, type 1f	Enrichment	NEFL	1.71
171	Noonan syndrome 6	Enrichment	NRAS	1.71
172	Hypogonadotropic hypogonadism 20 with or without anosmia	Enrichment	FGF17	1.71
173	Gist-plus syndrome	Enrichment	PDGFRA	1.71
174	Camptodactyly, tall stature, and hearing loss syndrome	Enrichment	FGFR3	1.71
175	Developmental and epileptic encephalopathy 27	Enrichment	GRIN2B	1.71
176	Aplasia of lacrimal and salivary glands	Enrichment	FGF10	1.71
177	Bent bone dysplasia syndrome 1	Enrichment	FGFR2	1.71
178	Noonan syndrome 11	Enrichment	MRAS	1.71
179	Immunodeficiency 64 with lymphoproliferation	Enrichment	RASGRP1	1.71
180	Angioedema, hereditary, 5	Enrichment	ANGPT1	1.71
181	Cerebral cavernous malformations 4	Enrichment	PIK3CA	1.71
182	Visceral neuropathy, familial, 2, autosomal recessive	Enrichment	ERBB2	1.71
183	Joubert syndrome 22	Enrichment	PDE6D	1.71
184	Spondylometaphyseal dysplasia, pagnamenta type	Enrichment	PRKG2	1.71
185	Noonan syndrome 13	Enrichment	MAPK1	1.71
186	Neurodevelopmental disorder with microcephaly, hypotonia, and absent language	Enrichment	PSMB1	1.71
187	Tumoral calcinosis, hyperphosphatemic, familial, 3	Enrichment	KL	1.71
188	Intellectual developmental disorder, x-linked, syndromic, houge type	Enrichment	CNKSR2	1.71
189	Venous malformations, multiple cutaneous and mucosal	Enrichment	TEK	1.71
190	Intellectual developmental disorder, autosomal recessive 63	Enrichment	CAMK2A	1.71
191	Immunodeficiency 63 with lymphoproliferation and autoimmunity	Enrichment	IL2RB	1.71
192	Intellectual developmental disorder, autosomal dominant 54	Enrichment	CAMK2B	1.71
193	Congenital myopathy 8	Enrichment	ACTN2	1.71
194	Charcot-marie-tooth disease, dominant intermediate g	Enrichment	NEFL	1.71
195	Short syndrome	Enrichment	PIK3R1	1.71
196	Spherocytosis, type 3	Enrichment	SPTA1	1.71
197	Von willebrand disease, type 3	Enrichment	VWF	1.71
198	Houge-janssens syndrome 4	Enrichment	PPP2R5C	1.71
199	Fetomaternal alloimmune thrombocytopenia 2	Enrichment	ITGA2B	1.71
200	Stankiewicz-isidor syndrome	Enrichment	PSMD12	1.71
201	Congenital smooth muscle hamartoma, with or without hemihypertrophy	Enrichment	ACTB	1.71
202	Osteofibrous dysplasia	Enrichment	MET	1.71
203	Myeloid and lymphoid neoplasms associated with pdgfra rearrangement	Enrichment	PDGFRA	1.71
204	Spinocerebellar ataxia, autosomal recessive 14	Enrichment	SPTBN2	1.71
205	Metacarpal 4-5 fusion	Enrichment	FGF16	1.71
206	Developmental delay, impaired speech, and behavioral abnormalities	Enrichment	SPTBN1	1.71
207	Noonan syndrome 14	Enrichment	SPRED2	1.71
208	Renal hypodysplasia/aplasia 4	Enrichment	GFRA1	1.71
209	Lacrimoauriculodentodigital syndrome 3	Enrichment	FGF10	1.71
210	Familial isolated trichomegaly	Enrichment	FGF5	1.71
211	Cardiofaciocutaneous syndrome 2	Enrichment	KRAS	1.71
212	Houge-janssens syndrome 2	Enrichment	PPP2R1A	1.71
213	Deafness, cataract, impaired intellectual development, and polyneuropathy	Enrichment	PSMC3	1.71
214	Deafness, autosomal recessive 97	Enrichment	MET	1.71
215	Cardiomyopathy, dilated, 1w	Enrichment	VCL	1.71
216	Lymphangioma	Enrichment	BRAF	1.71
217	Skin/hair/eye pigmentation, variation in, 7	Enrichment	KITLG	1.71
218	Crouzon syndrome with acanthosis nigricans	Enrichment	FGFR3	1.71
219	Hemifacial myohyperplasia	Enrichment	PIK3CA	1.71
220	Noonan syndrome-like disorder with loose anagen hair 1	Enrichment	SHOC2	1.71
221	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive	Enrichment	GRIN1	1.71
222	Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth	Enrichment	PIK3CA	1.71
223	Phace association	Enrichment	BRAF	1.71
224	Becker nevus syndrome	Enrichment	ACTB	1.71
225	Melorheostosis	Enrichment	MAP2K1	1.71
226	Dystonia-deafness syndrome 1	Enrichment	ACTB	1.71
227	Autism 9	Enrichment	MET	1.71
228	Hyperpigmentation, familial progressive, 1	Enrichment	SPTA1	1.71
229	Leopard syndrome 2	Enrichment	RAF1	1.71
230	Multiple synostoses syndrome 3	Enrichment	FGF9	1.71
231	Intellectual developmental disorder, autosomal dominant 6, with or without seizures	Enrichment	GRIN2B	1.71
232	Charcot-marie-tooth disease type 1f	Enrichment	NEFL	1.71
233	Cardiomyopathy, familial hypertrophic, 15	Enrichment	VCL	1.71
234	Surfactant metabolism dysfunction, pulmonary, 5	Enrichment	CSF2RB	1.71
235	Basal ganglia calcification, idiopathic, 4	Enrichment	PDGFRB	1.71
236	Immunodeficiency 36 with lymphoproliferation	Enrichment	PIK3R1	1.71
237	Cardiofaciocutaneous syndrome 4	Enrichment	MAP2K2	1.71
238	Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies	Enrichment	RAP1B	1.71
239	Long qt syndrome 16	Enrichment	CALM3	1.71
240	Amyotrophic lateral sclerosis 19	Enrichment	ERBB4	1.71
241	Hypogonadotropic hypogonadism 18 with or without anosmia	Enrichment	IL17RD	1.71
242	Hypogonadotropic hypogonadism 19 with or without anosmia	Enrichment	DUSP6	1.71
243	Myeloid and lymphoid neoplasms associated with pdgfrb rearrangement	Enrichment	PDGFRB	1.71
244	Agammaglobulinemia 7, autosomal recessive	Enrichment	PIK3R1	1.71
245	Hirschsprung disease 3	Enrichment	GDNF	1.71
246	Acute myeloid leukemia with minimal differentiation	Enrichment	FLT3	1.71
247	Developmental and epileptic encephalopathy 101	Enrichment	GRIN1	1.71
248	Hypogonadotropic hypogonadism 6 with or without anosmia	Enrichment	FGF8	1.71
249	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant	Enrichment	GRIN1	1.71
250	Achondroplasia, severe, with developmental delay and acanthosis nigricans	Enrichment	FGFR3	1.71
251	Kosaki overgrowth syndrome	Enrichment	PDGFRB	1.71
252	Tumoral calcinosis, hyperphosphatemic, familial, 2	Enrichment	FGF23	1.71
253	Hartsfield syndrome	Enrichment	FGFR1	1.71
254	Renal hypodysplasia/aplasia 2	Enrichment	FGF20	1.71
255	Visual impairment and progressive phthisis bulbi	Enrichment	MARK3	1.71
256	Neurodevelopmental disorder with or without autism or seizures	Enrichment	CUL3	1.71
257	Thrombocytopenia 6	Enrichment	SRC	1.71
258	Spherocytosis, type 2	Enrichment	SPTB	1.71
259	Glaucoma 3, primary congenital, e	Enrichment	TEK	1.71
260	Noonan syndrome-like disorder with loose anagen hair 2	Enrichment	PPP1CB	1.71
261	Epilepsy, familial adult myoclonic, 7	Enrichment	RAPGEF2	1.71
262	Von willebrand's disease	Enrichment	VWF	1.71
263	Thrombocytopenia 8, with dysmorphic features and developmental delay	Enrichment	ACTB	1.71
264	Myopathy, distal, 6, adult-onset, autosomal dominant	Enrichment	ACTN2	1.71
265	Ocular pterygium-digital keloid dysplasia syndrome	Enrichment	PDGFRB	1.71
266	Intellectual developmental disorder, autosomal dominant 53	Enrichment	CAMK2A	1.71
267	Elliptocytosis 3	Enrichment	SPTB	1.71
268	Chronic mast cell leukemia	Enrichment	KIT	1.71
269	Trigonitis	Enrichment	RAF1	1.71
270	Segmental progressive overgrowth syndrome with fibroadipose hyperplasia	Enrichment	PIK3CA	1.71
271	Intellectual developmental disorder, autosomal dominant 59	Enrichment	CAMK2G	1.71
272	Deafness, autosomal dominant 69	Enrichment	KITLG	1.71
273	Plexiform neurofibroma	Enrichment	NF1	1.71
274	T-b+ severe combined immunodeficiency due to jak3 deficiency	Enrichment	JAK3	1.71
275	Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia	Enrichment	SPTAN1	1.71
276	Arthrogryposis, distal, type 11	Enrichment	MET	1.71
277	Neurofibroma	Enrichment	NF1	1.71
278	Developmental delay with or without epilepsy	Enrichment	SPTAN1	1.71
279	Lacrimoauriculodentodigital syndrome 2	Enrichment	FGFR3	1.71
280	Long qt syndrome 15	Enrichment	CALM2	1.71
281	Baraitser-winter syndrome	Enrichment	ACTB	1.71
282	Immunodeficiency 125	Enrichment	FLT3LG	1.71
283	Short-rib thoracic dysplasia 22 without polydactyly	Enrichment	FGF4	1.71
284	Neuronopathy, distal hereditary motor, autosomal dominant 11	Enrichment	SPTAN1	1.71
285	Congenital fibrinogen deficiency	Enrichment	FGG	1.71
286	Hypospadias	Enrichment	PIK3CA	1.71
287	Bockenheimer syndrome	Enrichment	TEK	1.71
288	Charcot-marie-tooth disease type 2b5	Enrichment	NEFL	1.71
289	Neurofibromatosis	Enrichment	NF1	1.71
290	Grin2b-related neurodevelopmental disorder	Enrichment	GRIN2B	1.71
291	Chromosome 17q11.2 deletion syndrome	Enrichment	NF1	1.71
292	Isolated bone marrow mastocytosis	Enrichment	KIT	1.71
293	Congenital pulmonary airway malformation	Enrichment	KRAS	1.71
294	Thyroid cancer	Enrichment	RET	1.71
295	Smoldering systemic mastocytosis	Enrichment	KIT	1.71
296	Optic nerve glioma	Enrichment	NF1	1.71
297	Rare venous malformation	Enrichment	PIK3CA	1.71
298	Immunodeficiency 64	Enrichment	RASGRP1	1.71
299	Gorham's disease	Enrichment	RASA1	1.71
300	Diaphragmatic eventration	Enrichment	PIK3CA	1.71
301	Fgfr3-related chondrodysplasia	Enrichment	FGFR3	1.71
302	Ebv-induced lymphoproliferative disease due to rasgrp1 deficiency	Enrichment	RASGRP1	1.71
303	Congenital smooth muscle hamartoma	Enrichment	ACTB	1.71
304	Capillary leak syndrome	Enrichment	TLN1	1.71
305	Mastocytosis	Enrichment	KIT	1.71
306	Pik3ca-related overgrowth spectrum	Enrichment	PIK3CA	1.71
307	Syringocystadenoma papilliferum	Enrichment	BRAF	1.71
308	Developmental malformations-deafness-dystonia syndrome	Enrichment	ACTB	1.71
309	Camptodactyly-tall stature-scoliosis-hearing loss syndrome	Enrichment	FGFR3	1.71
310	Familial progressive hyperpigmentation	Enrichment	KITLG	1.71
311	Rare combined vascular malformation	Enrichment	PIK3CA	1.71
312	Ganglioglioma	Enrichment	BRAF	1.71
313	Cavernous lymphangioma	Enrichment	PIK3CA	1.71
314	Intellectual disability, autosomal dominant 8	Enrichment	GRIN1	1.71
315	Pik3ca-related overgrowth syndrome	Enrichment	PIK3CA	1.71
316	Cutaneous mastocytoma	Enrichment	KIT	1.71
317	Nongerminomatous germ cell tumor	Enrichment	BRAF	1.71
318	Phace syndrome	Enrichment	BRAF	1.71
319	Typical urticaria pigmentosa	Enrichment	KIT	1.71
320	Phakomatosis pigmentokeratotica	Enrichment	HRAS	1.71
321	Primary immunodeficiency syndrome due to p14 deficiency	Enrichment	LAMTOR2	1.71
322	Ppp2r1a-related neurodevelopmental disorder	Enrichment	PPP2R1A	1.71
323	Classic hairy cell leukemia	Enrichment	BRAF	1.71
324	Nodular urticaria pigmentosa	Enrichment	KIT	1.71
325	Hartsfield-bixler-demyer syndrome	Enrichment	FGFR1	1.71
326	Hemihyperplasia-multiple lipomatosis syndrome	Enrichment	PIK3CA	1.71
327	Pseudoxanthomatous diffuse cutaneous mastocytosis	Enrichment	KIT	1.71
328	Telangiectasia macularis eruptiva perstans	Enrichment	KIT	1.71
329	Acute mast cell leukemia	Enrichment	KIT	1.71
330	Mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency	Enrichment	JAK1	1.71
331	Eccrine angiomatous hamartoma	Enrichment	PIK3CA	1.71
332	Egf-related primary hypomagnesemia with intellectual disability	Enrichment	EGF	1.71
333	Non-syndromic unicoronal craniosynostosis	Enrichment	FGFR2	1.71
334	Familial progressive hyper- and hypopigmentation	Enrichment	KITLG	1.71
335	Plaque-form urticaria pigmentosa	Enrichment	KIT	1.71
336	Interstitial lung disease specific to childhood	Enrichment	FGF10	1.71
337	Macrodactyly of toe	Enrichment	PIK3CA	1.71
338	Serous carcinoma of the corpus uteri	Enrichment	ERBB2	1.71
339	Neurocutaneous melanocytosis	Enrichment	NRAS	1.71
340	Bullous diffuse cutaneous mastocytosis	Enrichment	KIT	1.71
341	Gastrointestinal system disease	Enrichment	RET	1.71
342	Multiple endocrine neoplasia	Enrichment	RET	1.71
343	Testis seminoma	Enrichment	KIT	1.71
344	Metachondromatosis	Enrichment	PTPN11	1.70
345	Immunodeficiency 35	Enrichment	TYK2	1.70
346	Leopard syndrome 1	Enrichment	PTPN11	1.70
347	Stuve-wiedemann syndrome 2	Enrichment	IL6ST	1.70
348	Hyper-ige syndrome 4a, autosomal dominant, with recurrent infections	Enrichment	IL6ST	1.70
349	Interleukin 6, serum level of, quantitative trait locus	Enrichment	IL6R	1.70
350	Soluble interleukin-6 receptor, serum level of, quantitative trait locus	Enrichment	IL6R	1.70
351	Hyper-ige syndrome 5, autosomal recessive, with recurrent infections	Enrichment	IL6R	1.70
352	Hyper-ige syndrome 4b, autosomal recessive, with recurrent infections	Enrichment	IL6ST	1.70
353	Immunodeficiency 94 with autoinflammation and dysmorphic facies	Enrichment	IL6ST	1.70
354	Malignant astrocytoma	Enrichment	PTPN11	1.70
355	Renal hypodysplasia/aplasia 3	Enrichment	FGFR3, RET	1.65
356	Meningioma	Enrichment	PDGFB, PIK3CA	1.65
357	Intellectual developmental disorder, x-linked 30	Enrichment	PAK3	1.64
358	Deafness, autosomal recessive 32, with or without immotile sperm	Enrichment	CDC14A	1.64
359	Alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity	Enrichment	RAG1	1.64
360	Global developmental delay with speech and behavioral abnormalities	Enrichment	TNRC6B	1.64
361	Knobloch syndrome 2	Enrichment	PAK2	1.64
362	Intellectual developmental disorder with macrocephaly, seizures, and speech delay	Enrichment	PAK1	1.64
363	Cardioacrofacial dysplasia 2	Enrichment	PRKACB	1.64
364	Charcot-marie-tooth disease, axonal, type 2f	Enrichment	HSPB1	1.64
365	Recombinase activating gene 1 deficiency	Enrichment	RAG1	1.64
366	Pigmented nodular adrenocortical disease, primary, 4	Enrichment	PRKACA	1.64
367	Neurocardiofaciodigital syndrome	Enrichment	MAPKAPK5	1.64
368	Epilepsy, familial adult myoclonic, 6	Enrichment	TNRC6A	1.64
369	Cardioacrofacial dysplasia 1	Enrichment	PRKACA	1.64
370	Takenouchi-kosaki syndrome	Enrichment	CDC42	1.64
371	Autosomal recessive nonsyndromic deafness 32	Enrichment	CDC14A	1.64
372	Recombinase activating gene 2 deficiency	Enrichment	RAG2	1.64
373	Nocarh syndrome	Enrichment	CDC42	1.64
374	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom	Enrichment	RAC1	1.64
375	Combined immunodeficiency due to partial rag1 deficiency	Enrichment	RAG1	1.64
376	Non-immune hydrops fetalis	Enrichment	HRAS, KRAS, PTPN11	1.63
377	Sensorineural hearing loss	Enrichment	CDC14A, HGF, NEFL, RET	1.62
378	Pheochromocytoma	Enrichment	NF1, RET	1.53
379	Cleft lip/palate	Enrichment	DLG1, PDGFRA	1.53
380	Hydrocephalus	Enrichment	FGFR2, PDGFRB	1.47
381	Lynch syndrome	Enrichment	KRAS, PIK3CA	1.47
382	Rhabdomyosarcoma	Enrichment	HRAS, NF1	1.42
383	Microform holoprosencephaly	Enrichment	FGF8, FGFR1	1.42
384	Lobar holoprosencephaly	Enrichment	FGF8, FGFR1	1.42
385	Cafe-au-lait spots, multiple	Enrichment	NF1	1.41
386	Blue rubber bleb nevus	Enrichment	TEK	1.41
387	Myeloproliferative disorder, chronic, with eosinophilia	Enrichment	PDGFRB	1.41
388	Fibromatosis, gingival, 1	Enrichment	SOS1	1.41
389	Otodental dysplasia	Enrichment	FGF3	1.41
390	Spondyloepimetaphyseal dysplasia, strudwick type	Enrichment	FN1	1.41
391	Costello syndrome	Enrichment	HRAS	1.41
392	Spondylometaphyseal dysplasia, corner fracture type	Enrichment	FN1	1.41
393	Trichomegaly	Enrichment	FGF5	1.41
394	Visceral neuropathy, familial, 1, autosomal recessive	Enrichment	ERBB3	1.41
395	Pulmonary hypoplasia, primary	Enrichment	FGF10	1.41
396	Dermatofibrosarcoma protuberans	Enrichment	PDGFB	1.41
397	Cervical cancer	Enrichment	FGFR3	1.41
398	Immunodeficiency 41 with lymphoproliferation and autoimmunity	Enrichment	IL2RA	1.41
399	Piebald trait	Enrichment	KIT	1.41
400	Pseudohypoaldosteronism, type i, autosomal dominant	Enrichment	CUL3	1.41
401	Aural atresia, congenital	Enrichment	FGFR2	1.41
402	Intellectual developmental disorder, autosomal recessive 5	Enrichment	SYNGAP1	1.41
403	Ventricular tachycardia, catecholaminergic polymorphic, 4	Enrichment	CALM1	1.41
404	Deafness, autosomal dominant 20	Enrichment	ACTG1	1.41
405	Deafness, congenital, with inner ear agenesis, microtia, and microdontia	Enrichment	FGF3	1.41
406	Baraitser-winter syndrome 2	Enrichment	ACTG1	1.41
407	Chudley-mccullough syndrome	Enrichment	SPTB	1.41
408	Noonan syndrome 8	Enrichment	PIK3CA	1.41
409	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness	Enrichment	SPTBN4	1.41
410	Thrombocythemia 3	Enrichment	JAK2	1.41
411	Long qt syndrome 14	Enrichment	CALM1	1.41
412	Houge-janssens syndrome 1	Enrichment	PPP2R5D	1.41
413	Antley-bixler syndrome without genital anomalies or disordered steroidogenesis	Enrichment	FGFR2	1.41
414	Waardenburg syndrome, type 2f	Enrichment	KITLG	1.41
415	Dystonia 30	Enrichment	PTPRA	1.41
416	Intellectual developmental disorder, x-linked 90	Enrichment	DLG3	1.41
417	Birk-aharoni syndrome	Enrichment	PSMC1	1.41
418	Chromosome 17q11.2 duplication syndrome, 1.4-mb	Enrichment	NF1	1.41
419	Infantile myofibromatosis	Enrichment	PDGFRB	1.41
420	Proteasome-associated autoinflammatory syndrome 3	Enrichment	PSMB4	1.41
421	Childhood hepatocellular carcinoma	Enrichment	MET	1.41
422	Neurodevelopmental disorder with variable familial hypercholanemia	Enrichment	WDR83	1.41
423	Bilateral generalized polymicrogyria	Enrichment	GRIN1	1.41
424	Acromesomelic dysplasia 4	Enrichment	PRKG2	1.41
425	Split hand-foot malformation	Enrichment	FGFR2	1.41
426	Developmental and epileptic encephalopathy 46	Enrichment	GRIN2D	1.41
427	Vulto-van silfhout-de vries syndrome	Enrichment	DLG4	1.41
428	Papillary renal cell carcinoma	Enrichment	MET	1.41
429	Medullary thyroid carcinoma	Enrichment	RET	1.41
430	Congenital hemolytic anemia	Enrichment	SPTA1	1.41
431	Autoinflammation, immune dysregulation, and eosinophilia	Enrichment	JAK1	1.41
432	Bardet-biedl syndrome 9	Enrichment	NF1	1.41
433	Cervix carcinoma	Enrichment	FGFR3	1.41
434	Polycythemia	Enrichment	JAK2	1.41
435	17q24.2 microdeletion syndrome	Enrichment	PSMD12	1.41
436	Immunodeficiency 52	Enrichment	LAT	1.41
437	Acute myeloid leukemia without maturation	Enrichment	FLT3	1.41
438	Houge-janssens syndrome 3	Enrichment	PPP2CA	1.41
439	Interfrontal craniofaciosynostosis	Enrichment	FGFR1	1.41
440	Autosomal dominant nonsyndromic deafness	Enrichment	FGFR2	1.41
441	Chronic eosinophilic leukemia	Enrichment	PDGFRA	1.41
442	Hypereosinophilic syndrome	Enrichment	JAK2	1.41
443	B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality	Enrichment	PDGFRA	1.41
444	Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)	Enrichment	FLT3	1.41
445	B-lymphoblastic leukemia/lymphoma with t	Enrichment	KIT	1.41
446	Pleomorphic rhabdomyosarcoma	Enrichment	NF1	1.41
447	Tafro syndrome	Enrichment	MAP2K2	1.41
448	Oculootodental syndrome	Enrichment	FGF3	1.41
449	Submucosal cleft palate	Enrichment	UBB	1.41
450	Cleft hard palate	Enrichment	UBB	1.41
451	Wooly hair nevus	Enrichment	HRAS	1.41
452	Severe combined immunodeficiency	Enrichment	JAK3, RAG1, RAG2	1.41
453	Autism spectrum disorder	Enrichment	CUL3, GRIN2B, MAP2K1, NF1, PTPN11, TNRC6B	1.40
454	Werner syndrome	Enrichment	PTPN11	1.40
455	Lymphomatoid papulosis	Enrichment	TYK2	1.40
456	Primary cutaneous anaplastic large cell lymphoma	Enrichment	TYK2	1.40
457	Burkitt lymphoma	Enrichment	MYC	1.34
458	Premature ovarian failure 3	Enrichment	AGO2	1.34
459	Neuronopathy, distal hereditary motor, autosomal dominant 3	Enrichment	HSPB1	1.34
460	Bleeding disorder, platelet-type, 19	Enrichment	PRKACG	1.34
461	Intellectual developmental disorder, autosomal dominant 48	Enrichment	RAC1	1.34
462	Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures	Enrichment	AGO1	1.34
463	Immune system disease	Enrichment	CDC42	1.34
464	Primary mediastinal large b-cell lymphoma	Enrichment	XPO1	1.34
465	Semilobar holoprosencephaly	Enrichment	FGF8, FGFR1	1.32
466	Patent foramen ovale	Enrichment	PSMC3, PTPN11	1.30
467	Type 2 diabetes mellitus	Enrichment	IL6, IRS1, IRS2	1.29
468	West syndrome	Enrichment	GRIN1, GRIN2B, SPTAN1	1.26
469	Hereditary breast carcinoma	Enrichment	KRAS, PIK3CA, RET	1.26
470	Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency	Enrichment	JAK3	1.24
471	Hyper-ige syndrome 1, autosomal dominant, with recurrent infections	Enrichment	ITGB3	1.24
472	Achondroplasia	Enrichment	FGFR3	1.24
473	Hypogonadotropic hypogonadism 2 with or without anosmia	Enrichment	FGFR1	1.24
474	Larsen syndrome	Enrichment	FGFR3	1.24
475	Thyroid carcinoma, familial medullary	Enrichment	RET	1.24
476	Pseudohypoaldosteronism, type iia	Enrichment	CUL3	1.24
477	Ataxia-telangiectasia	Enrichment	BRAF	1.24
478	Hypophosphatemic rickets, autosomal dominant	Enrichment	FGF23	1.24
479	Proteasome-associated autoinflammatory syndrome 1	Enrichment	PSMB4	1.24
480	Polycythemia vera	Enrichment	JAK2	1.24
481	Pompe disease, infantile-onset	Enrichment	PIK3CA	1.24
482	Intellectual developmental disorder, x-linked, syndromic, lujan-fryns type	Enrichment	ZDHHC9	1.24
483	Uvula, bifid	Enrichment	UBB	1.24
484	Watson syndrome	Enrichment	NF1	1.24
485	Periventricular nodular heterotopia 1	Enrichment	VWF	1.24
486	Severe combined immunodeficiency, x-linked	Enrichment	IL2RG	1.24
487	Heart defects, congenital, and other congenital anomalies	Enrichment	DLG4	1.24
488	Glomerulopathy with fibronectin deposits 2	Enrichment	FN1	1.24
489	Nuchal bleb, familial	Enrichment	SOS1	1.24
490	Combined immunodeficiency, x-linked	Enrichment	IL2RG	1.24
491	Cleft soft palate	Enrichment	UBB	1.24
492	Intellectual developmental disorder, autosomal dominant 5	Enrichment	SYNGAP1	1.24
493	Neurofibromatosis, familial spinal	Enrichment	NF1	1.24
494	Chromosome 8p11 myeloproliferative syndrome	Enrichment	FGFR1	1.24
495	Chromosome 17q11.2 deletion syndrome, 1.4-mb	Enrichment	NF1	1.24
496	Neonatal nephrocutaneous inflammatory syndrome	Enrichment	EGFR	1.24
497	Immunodeficiency 14a with lymphoproliferation, autosomal dominant	Enrichment	PIK3R1	1.24
498	Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy	Enrichment	SPTBN1	1.24
499	Short-rib thoracic dysplasia 11 with or without polydactyly	Enrichment	SPTAN1	1.24
500	Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1	Enrichment	ARL2	1.24
501	Tethered spinal cord syndrome	Enrichment	BRAF	1.24
502	Intellectual developmental disorder, autosomal dominant 62	Enrichment	DLG4	1.24
503	Wieacker-wolff syndrome	Enrichment	RASA1	1.24
504	Polycystic kidney disease 4	Enrichment	SHOC2	1.24
505	Proteosome-associated autoinflammatory syndrome	Enrichment	PSMB4	1.24
506	Neurodevelopmental disorder with hypotonia and impaired expressive language and with or without seizures	Enrichment	DLG4	1.24
507	Intrinsic cardiomyopathy	Enrichment	ACTN2	1.24
508	Hamartoma	Enrichment	FGFR3	1.24
509	Gingival overgrowth	Enrichment	RET	1.24
510	Immunodeficiency 14	Enrichment	PIK3R1	1.24
511	Brain cancer	Enrichment	NF1	1.24
512	Dlg4-related synaptopathy	Enrichment	DLG4	1.24
513	Bleeding disorder, platelet-type, 24	Enrichment	ITGB3	1.24
514	Neonatal inflammatory skin and bowel disease	Enrichment	EGFR	1.24
515	Mixed phenotype acute leukemia with t	Enrichment	FLT3	1.24
516	Renal cell carcinoma	Enrichment	MET	1.24
517	Thyroid hemiagenesis	Enrichment	PSMD3	1.24
518	Testicular cancer	Enrichment	FGFR3	1.24
519	Keratoacanthoma	Enrichment	PIK3CA	1.24
520	Stuve-wiedemann syndrome 1	Enrichment	IL6ST	1.23
521	Tricuspid valve insufficiency	Enrichment	PTPN11	1.23
522	Stüve-wiedemann syndrome	Enrichment	IL6ST	1.23
523	Endometrial cancer	Enrichment	FGFR2, PIK3CA	1.20
524	Hereditary paraganglioma-pheochromocytoma syndromes	Enrichment	NF1, RET	1.20
525	High-grade b-cell lymphoma double-hit/triple-hit	Enrichment	MYC	1.17
526	Lessel-kreienkamp syndrome	Enrichment	AGO2	1.17
527	Myocardial infarction	Enrichment	ITGB3, PSMA6	1.16
528	Tooth agenesis	Enrichment	FGFR1, TGFA	1.16
529	Diffuse large b-cell lymphoma	Enrichment	BRAF, FOXO1	1.16
530	Dilated cardiomyopathy	Enrichment	ACTN2, BRAF, RAF1, VCL	1.14
531	Erythrocytosis, familial, 1	Enrichment	JAK2	1.12
532	Diffuse gastric and lobular breast cancer syndrome	Enrichment	KRAS	1.12
533	Acyl-coa dehydrogenase, very long-chain, deficiency of	Enrichment	DLG4	1.12
534	Thyroid cancer, nonmedullary, 1	Enrichment	BRAF	1.12
535	Astigmatism	Enrichment	GRIN2B	1.12
536	Budd-chiari syndrome	Enrichment	JAK2	1.12
537	Glaucoma 3, primary infantile, b	Enrichment	TEK	1.12
538	Chromosome 22q11.2 deletion syndrome, distal	Enrichment	MAPK1	1.12
539	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Enrichment	PIK3R2	1.12
540	Cholangiocarcinoma	Enrichment	PTPN3	1.12
541	Barrett esophagus	Enrichment	ERBB2	1.12
542	Aminoacylase 1 deficiency	Enrichment	ACTB	1.12
543	Central hypoventilation syndrome, congenital, 1	Enrichment	RET	1.12
544	Multiple synostoses syndrome	Enrichment	FGF9	1.12
545	Lung sarcomatoid carcinoma	Enrichment	KRAS	1.12
546	Chronic myelomonocytic leukemia	Enrichment	FLT3	1.12
547	Cerebrovascular disease	Enrichment	PIK3CA	1.12
548	Embryonal rhabdomyosarcoma	Enrichment	NF1	1.12
549	Craniopharyngioma	Enrichment	BRAF	1.12
550	Newborn respiratory distress syndrome	Enrichment	BRAF	1.12
551	Epidermolytic nevus	Enrichment	HRAS	1.12
552	Familial cerebral cavernous malformations	Enrichment	PIK3CA	1.12
553	Adenosine deaminase deficiency	Enrichment	JAK3	1.12
554	Charcot-marie-tooth hereditary neuropathy	Enrichment	SPTAN1	1.12
555	Non-syndromic bicoronal craniosynostosis	Enrichment	FGFR3	1.12
556	Systemic mastocytosis with associated hematologic neoplasm	Enrichment	KIT	1.12
557	Glioma	Enrichment	FGFR2	1.12
558	Haddad syndrome	Enrichment	RET	1.12
559	Middle aortic syndrome	Enrichment	NF1	1.12
560	Gingival fibromatosis	Enrichment	SOS1	1.12
561	Hereditary angioedema with normal c1inh not related to f12 or plg variant	Enrichment	ANGPT1	1.12
562	Pseudomyogenic hemangioendothelioma	Enrichment	ACTB	1.12
563	Kaposi sarcoma	Enrichment	IL6	1.11
564	Systemic-onset juvenile idiopathic arthritis	Enrichment	IL6	1.11
565	Hypertelorism	Enrichment	FGFR2, PIK3CA, RET	1.09
566	Scoliosis	Enrichment	GRIN2B, PTPN11	1.08
567	Familial isolated dilated cardiomyopathy	Enrichment	ACTN2, RAF1, VCL	1.07
568	Infantile sialic acid storage disease	Enrichment	RAG2	1.05
569	Salla disease	Enrichment	RAG2	1.05
570	Knobloch syndrome	Enrichment	PAK2	1.05
571	Amyloidosis, hereditary systemic 2	Enrichment	FGA	1.03
572	Multiple endocrine neoplasia, type iia	Enrichment	RET	1.03
573	Polycystic kidney disease 3 with or without polycystic liver disease	Enrichment	SHOC2	1.03
574	Charcot-marie-tooth disease, axonal, type 2e	Enrichment	NEFL	1.03
575	Glanzmann thrombasthenia 2	Enrichment	ITGB3	1.03
576	Pervasive developmental disorder	Enrichment	SPTBN1	1.03
577	Myeloproliferative neoplasm	Enrichment	JAK2	1.03
578	Hemimegalencephaly	Enrichment	PIK3CA	1.03
579	Coloboma of choroid and retina	Enrichment	ACTG1	1.03
580	Sleep disorder	Enrichment	GRIN2B	1.03
581	Rare pervasive developmental disorder	Enrichment	SPTBN1	1.03
582	Hydrops fetalis, nonimmune	Enrichment	HRAS, PTPN11	1.02
583	Rheumatoid arthritis, systemic juvenile	Enrichment	IL6	1.02
584	Lymphoma	Enrichment	PTPN11	1.02
585	Precursor t-cell acute lymphoblastic leukemia	Enrichment	FLT3, MYC	1.01
586	Male infertility with azoospermia or oligozoospermia due to single gene mutation	Enrichment	FGF8, KLB, PTPN11	0.99
587	Neuronopathy, distal hereditary motor, autosomal dominant 2	Enrichment	HSPB1	0.96
588	Knobloch syndrome 1	Enrichment	PAK2	0.96
589	Free sialic acid storage disorder	Enrichment	RAG2	0.96
590	Developmental dysplasia of the hip 1	Enrichment	PSMC3	0.95
591	Telangiectasia, hereditary hemorrhagic, type 1	Enrichment	RASA1	0.95
592	Split-hand/foot malformation 1	Enrichment	FGFR2	0.95
593	Hemihyperplasia, isolated	Enrichment	PIK3CA	0.95
594	Wilms tumor 5	Enrichment	BRAF	0.95
595	Hemangioma, capillary infantile	Enrichment	RASA1	0.95
596	Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy	Enrichment	CALM1	0.95
597	Basal cell carcinoma 1	Enrichment	RASA1	0.95
598	46,xy disorder of sex development	Enrichment	FGFR3	0.95
599	Familial hypercholanemia	Enrichment	WDR83	0.95
600	Sporadic pheochromocytoma/secreting paraganglioma	Enrichment	RET	0.95
601	Type 1 diabetes mellitus	Enrichment	IL6	0.94
602	Long qt syndrome	Enrichment	CALM1, CALM2	0.91
603	Glaucoma 3, primary congenital, a	Enrichment	TEK	0.89
604	Thrombophilia due to thrombin defect	Enrichment	FGA	0.89
605	Squamous cell carcinoma, head and neck	Enrichment	EGFR	0.89
606	Waardenburg syndrome, type 2e	Enrichment	KITLG	0.89
607	Renal cell carcinoma, papillary, 1	Enrichment	MET	0.89
608	Essential thrombocythemia	Enrichment	JAK2	0.89
609	Hereditary hemorrhagic telangiectasia	Enrichment	RASA1	0.89
610	Focal epilepsy	Enrichment	SPTAN1	0.89
611	Overgrowth syndrome	Enrichment	PIK3R1	0.89
612	Hypophosphatemic rickets	Enrichment	FGF23	0.89
613	B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)	Enrichment	FLT3	0.89
614	Familial hypertrophic cardiomyopathy	Enrichment	ACTN2, RAF1	0.87
615	Arthrogryposis, distal, type 1a	Enrichment	MET	0.83
616	Glioma susceptibility 1	Enrichment	ERBB2	0.83
617	Spastic paraplegia 4, autosomal dominant	Enrichment	FGG	0.83
618	Renal hypodysplasia/aplasia 1	Enrichment	RET	0.83
619	Polycystic kidney disease 4 with or without polycystic liver disease	Enrichment	SHOC2	0.83
620	Lymphoma, non-hodgkin, familial	Enrichment	BRAF	0.83
621	Catecholaminergic polymorphic ventricular tachycardia 1	Enrichment	CALM1	0.83
622	Hypothyroidism	Enrichment	RET	0.83
623	Isolated split hand-split foot malformation	Enrichment	SEM1	0.83
624	Left ventricular noncompaction	Enrichment	ACTN2, RAF1	0.82
625	Common variable immunodeficiency	Enrichment	RAG2	0.82
626	Non-syndromic x-linked intellectual disability	Enrichment	CNKSR2, DLG3	0.80
627	Orofacial cleft 1	Enrichment	FGF10	0.79
628	Cardiomyopathy, familial hypertrophic, 4	Enrichment	BRAF	0.79
629	Myoclonic-atonic epilepsy	Enrichment	SYNGAP1	0.79
630	Atypical chronic myeloid leukemia, bcr-abl1 negative	Enrichment	FLT3	0.79
631	Hypogonadotropic hypogonadism	Enrichment	FGFR1	0.79
632	Primary hyperaldosteronism	Enrichment	BRAF	0.79
633	Cowden syndrome	Enrichment	PIK3CA	0.79
634	Inflammatory bowel disease 1	Enrichment	IL6	0.78
635	Cerebral palsy	Enrichment	GRIN2B, PDGFRB	0.75
636	Cat eye syndrome	Enrichment	ACTG1	0.75
637	Meier-gorlin syndrome 1	Enrichment	FGFR2	0.75
638	Polymicrogyria	Enrichment	PSMC3	0.75
639	Melanoma	Enrichment	BRAF	0.75
640	Autosomal non-syndromic agammaglobulinemia	Enrichment	PIK3R1	0.75
641	Primary bone dysplasia	Enrichment	FGFR3	0.75
642	Cakut	Enrichment	ACTG1, ETV4	0.74
643	Coronary heart disease 5	Enrichment	KALRN	0.72
644	Benign epilepsy with centrotemporal spikes	Enrichment	GRIN1, SPTAN1	0.72
645	Orofaciodigital syndrome vi	Enrichment	PDE6D	0.71
646	Meningioma, familial	Enrichment	PDGFB	0.71
647	Leukemia, acute lymphoblastic	Enrichment	FLT3	0.71
648	Combined immunodeficiency	Enrichment	IL2RG	0.71
649	Osteochondrodysplasia	Enrichment	FGFR3	0.71
650	Ichthyosis	Enrichment	IL2RB	0.71
651	Combined t cell and b cell immunodeficiency	Enrichment	IL2RG	0.71
652	Combined t and b cell immunodeficiency	Enrichment	IL2RG	0.71
653	Centralopathic epilepsy	Enrichment	GRIN1, SPTAN1	0.69
654	Septooptic dysplasia	Enrichment	FGFR1	0.67
655	Hypertrophic cardiomyopathy	Enrichment	ACTN2, PTPN11	0.67
656	Epicanthus	Enrichment	PTPN11	0.67
657	Congenital long qt syndrome	Enrichment	PTPN11	0.67
658	Immune deficiency disease	Enrichment	RAG2	0.65
659	Aortic valve disease 1	Enrichment	SOS1	0.64
660	Stereotypic movement disorder	Enrichment	SYNGAP1	0.64
661	Charcot-marie-tooth disease	Enrichment	HSPB1, NEFL	0.62
662	Hypogonadotropic hypogonadism 7 with or without anosmia	Enrichment	FGFR1	0.62
663	Osteoporosis	Enrichment	SRC	0.62
664	46,xy partial gonadal dysgenesis	Enrichment	SOS1	0.62
665	Renal cell carcinoma, nonpapillary	Enrichment	MET	0.59
666	Wilms tumor 1	Enrichment	BRAF	0.59
667	Septopreoptic holoprosencephaly	Enrichment	FGF8	0.59
668	Male infertility with spermatogenesis disorder	Enrichment	SPRED1	0.59
669	Midline interhemispheric variant of holoprosencephaly	Enrichment	FGF8	0.59
670	Rare autosomal dominant non-syndromic sensorineural deafness type dfna	Enrichment	ACTG1, KITLG	0.57
671	Arrhythmogenic right ventricular cardiomyopathy	Enrichment	ACTN2	0.57
672	Melanoma, cutaneous malignant 1	Enrichment	BRAF	0.54
673	Sudden infant death syndrome	Enrichment	CALM2	0.54
674	Alobar holoprosencephaly	Enrichment	FGF8	0.54
675	Hereditary breast ovarian cancer syndrome	Enrichment	KRAS, NF1	0.53
676	Heart, malformation of	Enrichment	MAPK1	0.52
677	Neuromuscular disease	Enrichment	SPTAN1	0.52
678	Early infantile developmental and epileptic encephalopathy	Enrichment	GRIN1	0.52
679	Undetermined early-onset epileptic encephalopathy	Enrichment	CNKSR2, GRIN2D	0.52
680	Neuropathy, hereditary motor and sensory, okinawa type	Enrichment	NEFL	0.50
681	Rare autosomal recessive non-syndromic sensorineural deafness type dfnb	Enrichment	CDC14A, HGF, MET	0.48
682	Lissencephaly	Enrichment	ACTG1	0.47
683	Hepatoblastoma	Enrichment	FGFR3	0.47
684	Skin disease	Enrichment	NF1	0.45
685	Cardiomyopathy, familial hypertrophic, 1	Enrichment	RAF1	0.42
686	Pancreatic cancer	Enrichment	KRAS	0.41
687	Developmental and epileptic encephalopathy 1	Enrichment	GRIN1	0.41
688	Jeune thoracic dystrophy	Enrichment	SPTAN1	0.41
689	Tetralogy of fallot	Enrichment	RET	0.39
690	Auditory neuropathy	Enrichment	NEFL	0.39
691	Strabismus	Enrichment	PTPN11	0.38
692	Asphyxiating thoracic dystrophy	Enrichment	SPTAN1	0.37
693	Ear malformation	Enrichment	CDC14A	0.37
694	Prostate cancer	Enrichment	PIK3CA	0.36
695	Severe covid-19	Enrichment	JAK3	0.36
696	Isolated joubert syndrome	Enrichment	PDE6D	0.35
697	Connective tissue disease	Enrichment	FGFR3	0.33
698	Peripheral nervous system disease	Enrichment	NEFL	0.33
699	Neuropathy	Enrichment	NEFL	0.33
700	Short-rib thoracic dysplasia 1 with or without polydactyly	Enrichment	SPTAN1	0.32
701	Dystonia	Enrichment	CAMK2B	0.30
702	Developmental and epileptic encephalopathy	Enrichment	SPTAN1	0.29
703	Non-syndromic genetic deafness	Enrichment	ACTG1	0.29
704	Rare genetic deafness	Enrichment	ACTG1, CDC14A	0.26
705	Epilepsy	Enrichment	GRIN2B	0.26
706	Hereditary spastic paraplegia	Enrichment	SPTAN1	0.25
707	Nonsyndromic hearing loss	Enrichment	ACTG1	0.25
708	Nephrotic syndrome	Enrichment	FN1	0.24
709	Congenital nervous system abnormality	Enrichment	CAMK2B, FGFR3	0.21
710	Nervous system disease	Enrichment	CAMK2B, FGFR3	0.21
711	Spastic ataxia	Enrichment	SPTAN1	0.19
712	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	Enrichment	ERBB4	0.17
713	Autosomal recessive non-syndromic intellectual disability	Enrichment	GRIN1	0.17
714	Schizophrenia	Enrichment	DLG2	0.16
715	Primary ovarian insufficiency	Enrichment	JAK2	0.16
716	Autism	Enrichment	CAMK2G	0.12

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

MAPK family signaling cascades

Pathway Network for MAPK family signaling cascades

Pathway network for the MAPK family signaling cascades SuperPath

Member Pathways for MAPK family signaling cascades

Pathways in the MAPK family signaling cascades SuperPath

Gene overlap in member pathways for MAPK family signaling cascades SuperPath

Associated Genes for MAPK family signaling cascades

Associated Disorders for MAPK family signaling cascades

Disorders associated with MAPK family signaling cascades SuperPath

STRING Interaction Network for MAPK family signaling cascades

Sources for MAPK family signaling cascades