Signaling by Receptor Tyrosine Kinases

No Pathway Network information available for Signaling by Receptor Tyrosine Kinases

Pathways in the Signaling by Receptor Tyrosine Kinases SuperPath

#	Name	Source	Genes
1	Signaling by Receptor Tyrosine Kinases	Reactome	AAMP ABI1 ABI2 ACTB ACTG1 ADAM10 ADAM12 ADAM17 ADAP1 ADCYAP1 ADCYAP1R1 ADORA2A AHCYL1 AKT1 AKT2 AKT3 ALK ALKAL1 ALKAL2 ANOS1 AP2A1 AP2A2 AP2B1 AP2M1 AP2S1 APH1A APH1B APOE ARC AREG ARF6 ARHGEF7 ASCL1 ATF1 ATF2 ATP6AP1 ATP6V0A1 ATP6V0A2 ATP6V0A4 ATP6V0B ATP6V0C ATP6V0D1 ATP6V0D2 ATP6V0E1 ATP6V0E2 ATP6V1A ATP6V1B1 ATP6V1B2 ATP6V1C1 ATP6V1C2 ATP6V1D ATP6V1E1 ATP6V1E2 ATP6V1F ATP6V1G1 ATP6V1G2 ATP6V1G3 ATP6V1H AXL BAIAP2 BCAR1 BDNF BRAF BRK1 BTC CALM1 CALM2 CALM3 CAV1 CBL CD274 CDC37 CDC42 CDH5 CDK5 CDK5R1 CDK5R2 CHD4 CHEK1 CILP CLTA CLTC CMA1 COL11A1 COL11A2 COL1A1 COL1A2 COL24A1 COL27A1 COL2A1 COL3A1 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5 COL5A1 COL5A2 COL5A3 COL6A1 COL6A2 COL6A3 COL6A5 COL6A6 COL9A1 COL9A2 COL9A3 CREB1 CRK CRKL CSK CSN2 CTNNA1 CTNNB1 CTNND1 CTSD CUL5 CXCL12 CYBA CYBB CYFIP1 CYFIP2 DIAPH1 DLG4 DNAL4 DNM1 DNM2 DNM3 DNMT1 DOCK1 DOCK3 DOCK7 DUSP3 DUSP4 DUSP6 DUSP7 EGF EGFR EGR1 EGR2 EGR3 EGR4 ELK1 ELMO1 ELMO2 EP300 EPGN EPN1 EPS15 EPS15L1 ERBB2 ERBB3 ERBB4 ERBIN EREG ESR1 ESRP1 ESRP2 F3 FAM83A FAM83B FAM83D FER FES FGF1 FGF10 FGF16 FGF17 FGF18 FGF19 FGF2 FGF20 FGF22 FGF23 FGF3 FGF4 FGF5 FGF6 FGF7 FGF8 FGF9 FGFBP1 FGFBP2 FGFBP3 FGFR1 FGFR2 FGFR3 FGFR4 FGFRL1 FLRT1 FLRT2 FLRT3 FLT1 FLT3 FLT3LG FLT4 FN1 FOS FOSB FOSL1 FRS2 FRS3 FURIN FYN GAB1 GAB2 GABRA1 GABRB1 GABRB2 GABRB3 GABRG2 GABRG3 GABRQ GALNT3 GFAP GGA3 GIPC1 GRAP GRAP2 GRB10 GRB2 GRB7 GRIN2B GTF2F1 GTF2F2 HBEGF HDAC1 HDAC2 HDAC3 HGF HGFAC HGS HIF1A HNRNPA1 HNRNPF HNRNPH1 HNRNPM HPN HRAS HSP90AA1 HSPB1 ID1 ID2 ID3 ID4 IDE IGF1 IGF1R IGF2 IL2RG INS INSR IRS1 IRS2 IRS4 ITCH ITGA2 ITGA3 ITGAV ITGB1 ITGB3 ITPR1 ITPR2 ITPR3 JAK2 JAK3 JUNB JUND JUP KDR KIDINS220 KIT KITLG KL KLB KRAS LAMA1 LAMA2 LAMA3 LAMA4 LAMA5 LAMB1 LAMB2 LAMB3 LAMC1 LAMC2 LAMC3 LCK LRIG1 LTK LYL1 LYN MAP2K1 MAP2K2 MAP2K5 MAPK1 MAPK11 MAPK12 MAPK13 MAPK14 MAPK3 MAPK7 MAPKAP1 MAPKAPK2 MAPKAPK3 MATK MDK MEF2A MEF2C MEF2D MEMO1 MET MKNK1 MLST8 MMP9 MST1 MST1R MTOR MUC20 MXD4 MYC MYCN NAB1 NAB2 NCBP1 NCBP2 NCF1 NCF2 NCF4 NCK1 NCK2 NCKAP1 NCKAP1L NCOR1 NCSTN NEDD4 NELFB NGF NOS3 NRAS NRG1 NRG2 NRG3 NRG4 NRP1 NRP2 NTF3 NTF4 NTRK1 NTRK2 NTRK3 PAG1 PAK1 PAK2 PAK3 PCSK5 PCSK6 PDE3B PDGFA PDGFB PDGFC PDGFD PDGFRA PDGFRB PDPK1 PGF PGR PIK3C3 PIK3CA PIK3CB PIK3R1 PIK3R2 PIK3R3 PIK3R4 PLAT PLCG1 PLG POLR2A POLR2B POLR2C POLR2D POLR2E POLR2F POLR2G POLR2H POLR2I POLR2J POLR2K POLR2L PPP2CA PPP2CB PPP2R1A PPP2R1B PPP2R5D PRDM1 PRKACA PRKACB PRKACG PRKCA PRKCB PRKCD PRKCE PRKCZ PRR5 PSEN1 PSEN2 PSENEN PTBP1 PTK2 PTK2B PTK6 PTN PTPN1 PTPN11 PTPN12 PTPN18 PTPN2 PTPN3 PTPN6 PTPRF PTPRJ PTPRK PTPRO PTPRS PTPRU PTPRZ1 PXN RAB4A RAB4B RAC1 RALA RALB RALGDS RANBP10 RANBP9 RAP1A RAP1B RAPGEF1 RASA1 RBFOX2 REST RHOA RICTOR RIT1 RIT2 RNF41 ROCK1 ROCK2 RPS27A RPS6KA1 RPS6KA2 RPS6KA3 RPS6KA5 RRAD S100B SGK1 SH2B2 SH2B3 SH2D2A SH3GL1 SH3GL2 SH3GL3 SH3KBP1 SHB SHC1 SHC2 SHC3 SIN3A SOCS1 SOCS6 SOS1 SPARC SPHK1 SPINT1 SPINT2 SPP1 SPRED1 SPRED2 SPRY1 SPRY2 SRC SRF STAM STAM2 STAT1 STAT3 STAT5A STAT5B STAT6 STMN1 STUB1 TAB2 TCF12 TCIRG1 TGFA TGFBR3 THBS1 THBS2 THBS3 THBS4 THEM4 TIA1 TIAL1 TIAM1 TLR9 TNK2 TNS3 TNS4 TPH1 TRIB1 TRIB3 UBA52 UBB UBC USP8 VAV1 VAV2 VAV3 VEGFA VEGFB VEGFC VEGFD VGF VRK3 WASF1 WASF2 WASF3 WWOX WWP1 YAP1 YES1 YWHAB (see all 532) (see less)

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

#	Symbol	Description	Category	# Related Pathways
1	AKT3	AKT Serine/Threonine Kinase 3	Protein Coding	1
2	ABI1	Abl Interactor 1	Protein Coding	1
3	SH2B3	SH2B Adaptor Protein 3	Protein Coding	1
4	CDH5	Cadherin 5	Protein Coding	1
5	RANBP9	RAN Binding Protein 9	Protein Coding	1
6	PTPRU	Protein Tyrosine Phosphatase Receptor Type U	Protein Coding	1
7	DNAL4	Dynein Axonemal Light Chain 4	Protein Coding	1
8	ABI2	Abl Interactor 2	Protein Coding	1
9	WASF2	WASP Family Member 2	Protein Coding	1
10	TNK2	Tyrosine Kinase Non Receptor 2	Protein Coding	1
11	RNF41	Ring Finger Protein 41	Protein Coding	1
12	ADAM10	ADAM Metallopeptidase Domain 10	Protein Coding	1
13	CDK5	Cyclin Dependent Kinase 5	Protein Coding	1
14	TRIB1	Tribbles Pseudokinase 1	Protein Coding	1
15	SPRY1	Sprouty RTK Signaling Antagonist 1	Protein Coding	1
16	SPRY2	Sprouty RTK Signaling Antagonist 2	Protein Coding	1
17	STAM2	Signal Transducing Adaptor Molecule 2	Protein Coding	1
18	STUB1	STIP1 Homology And U-Box Containing Protein 1	Protein Coding	1
19	TCIRG1	T Cell Immune Regulator 1, ATPase H+ Transporting V0 Subunit A3	Protein Coding	1
20	LAMC3	Laminin Subunit Gamma 3	Protein Coding	1
21	YAP1	Yes1 Associated Transcriptional Regulator	Protein Coding	1
22	VAV3	Vav Guanine Nucleotide Exchange Factor 3	Protein Coding	1
23	BAIAP2	BAR/IMD Domain Containing Adaptor Protein 2	Protein Coding	1
24	SH2B2	SH2B Adaptor Protein 2	Protein Coding	1
25	MXD4	MAX Dimerization Protein 4	Protein Coding	1
26	SPINT2	Serine Peptidase Inhibitor, Kunitz Type 2	Protein Coding	1
27	NRG3	Neuregulin 3	Protein Coding	1
28	GRAP	GRB2 Related Adaptor Protein	Protein Coding	1
29	GIPC1	GIPC PDZ Domain Containing Family Member 1	Protein Coding	1
30	AHCYL1	Adenosylhomocysteinase Like 1	Protein Coding	1
31	NCKAP1	NCK Associated Protein 1	Protein Coding	1
32	WASF3	WASP Family Member 3	Protein Coding	1
33	FRS3	Fibroblast Growth Factor Receptor Substrate 3	Protein Coding	1
34	FRS2	Fibroblast Growth Factor Receptor Substrate 2	Protein Coding	1
35	ADAP1	ArfGAP With Dual PH Domains 1	Protein Coding	1
36	WWP1	WW Domain Containing E3 Ubiquitin Protein Ligase 1	Protein Coding	1
37	CHD4	Chromodomain Helicase DNA Binding Protein 4	Protein Coding	1
38	CHEK1	Checkpoint Kinase 1	Protein Coding	1
39	CDC37	Cell Division Cycle 37, HSP90 Cochaperone	Protein Coding	1
40	ADCYAP1	Adenylate Cyclase Activating Polypeptide 1	Protein Coding	1
41	ADCYAP1R1	ADCYAP Receptor Type I	Protein Coding	1
42	THEM4	Thioesterase Superfamily Member 4	Protein Coding	1
43	AP2M1	Adaptor Related Protein Complex 2 Subunit Mu 1	Protein Coding	1
44	AP2S1	Adaptor Related Protein Complex 2 Subunit Sigma 1	Protein Coding	1
45	CLTA	Clathrin Light Chain A	Protein Coding	1
46	CLTC	Clathrin Heavy Chain	Protein Coding	1
47	CMA1	Chymase 1	Protein Coding	1
48	ATP6V1G3	ATPase H+ Transporting V1 Subunit G3	Protein Coding	1
49	COL1A1	Collagen Type I Alpha 1 Chain	Protein Coding	1
50	COL1A2	Collagen Type I Alpha 2 Chain	Protein Coding	1
51	COL2A1	Collagen Type II Alpha 1 Chain	Protein Coding	1
52	COL3A1	Collagen Type III Alpha 1 Chain	Protein Coding	1
53	COL4A1	Collagen Type IV Alpha 1 Chain	Protein Coding	1
54	COL4A2	Collagen Type IV Alpha 2 Chain	Protein Coding	1
55	COL4A3	Collagen Type IV Alpha 3 Chain	Protein Coding	1
56	COL4A4	Collagen Type IV Alpha 4 Chain	Protein Coding	1
57	COL4A5	Collagen Type IV Alpha 5 Chain	Protein Coding	1
58	COL5A1	Collagen Type V Alpha 1 Chain	Protein Coding	1
59	COL5A2	Collagen Type V Alpha 2 Chain	Protein Coding	1
60	COL6A1	Collagen Type VI Alpha 1 Chain	Protein Coding	1
61	COL6A2	Collagen Type VI Alpha 2 Chain	Protein Coding	1
62	COL6A3	Collagen Type VI Alpha 3 Chain	Protein Coding	1
63	COL9A1	Collagen Type IX Alpha 1 Chain	Protein Coding	1
64	COL9A2	Collagen Type IX Alpha 2 Chain	Protein Coding	1
65	COL9A3	Collagen Type IX Alpha 3 Chain	Protein Coding	1
66	COL11A1	Collagen Type XI Alpha 1 Chain	Protein Coding	1
67	COL11A2	Collagen Type XI Alpha 2 Chain	Protein Coding	1
68	COL6A6	Collagen Type VI Alpha 6 Chain	Protein Coding	1
69	ADORA2A	Adenosine A2a Receptor	Protein Coding	1
70	CREB1	CAMP Responsive Element Binding Protein 1	Protein Coding	1
71	ATF2	Activating Transcription Factor 2	Protein Coding	1
72	CRK	CRK Proto-Oncogene, Adaptor Protein	Protein Coding	1
73	CRKL	CRK Like Proto-Oncogene, Adaptor Protein	Protein Coding	1
74	AAMP	Angio Associated Migratory Cell Protein	Protein Coding	1
75	MAPK14	Mitogen-Activated Protein Kinase 14	Protein Coding	1
76	FGFBP3	Fibroblast Growth Factor Binding Protein 3	Protein Coding	1
77	CSK	C-Terminal Src Kinase	Protein Coding	1
78	CSN2	Casein Beta	Protein Coding	1
79	NRG4	Neuregulin 4	Protein Coding	1
80	CTNNA1	Catenin Alpha 1	Protein Coding	1
81	CTNNB1	Catenin Beta 1	Protein Coding	1
82	CTNND1	Catenin Delta 1	Protein Coding	1
83	CTSD	Cathepsin D	Protein Coding	1
84	KLB	Klotho Beta	Protein Coding	1
85	CYBA	Cytochrome B-245 Alpha Chain	Protein Coding	1
86	CYBB	Cytochrome B-245 Beta Chain	Protein Coding	1
87	ATP6V0E2	ATPase H+ Transporting V0 Subunit E2	Protein Coding	1
88	AP2A1	Adaptor Related Protein Complex 2 Subunit Alpha 1	Protein Coding	1
89	AP2A2	Adaptor Related Protein Complex 2 Subunit Alpha 2	Protein Coding	1
90	SPRED1	Sprouty Related EVH1 Domain Containing 1	Protein Coding	1
91	AP2B1	Adaptor Related Protein Complex 2 Subunit Beta 1	Protein Coding	1
92	DIAPH1	Diaphanous Related Formin 1	Protein Coding	1
93	DLG4	Discs Large MAGUK Scaffold Protein 4	Protein Coding	1
94	DNM1	Dynamin 1	Protein Coding	1
95	DNM2	Dynamin 2	Protein Coding	1
96	DNMT1	DNA Methyltransferase 1	Protein Coding	1
97	DOCK1	Dedicator Of Cytokinesis 1	Protein Coding	1
98	DOCK3	Dedicator Of Cytokinesis 3	Protein Coding	1
99	HBEGF	Heparin Binding EGF Like Growth Factor	Protein Coding	1
100	DUSP3	Dual Specificity Phosphatase 3	Protein Coding	1
101	DUSP4	Dual Specificity Phosphatase 4	Protein Coding	1
102	DUSP6	Dual Specificity Phosphatase 6	Protein Coding	1
103	DUSP7	Dual Specificity Phosphatase 7	Protein Coding	1
104	EGF	Epidermal Growth Factor	Protein Coding	1
105	EGFR	Epidermal Growth Factor Receptor	Protein Coding	1
106	EGR1	Early Growth Response 1	Protein Coding	1
107	EGR2	Early Growth Response 2	Protein Coding	1
108	EGR3	Early Growth Response 3	Protein Coding	1
109	EGR4	Early Growth Response 4	Protein Coding	1
110	ELK1	ETS Transcription Factor ELK1	Protein Coding	1
111	SPRED2	Sprouty Related EVH1 Domain Containing 2	Protein Coding	1
112	MUC20	Mucin 20, Cell Surface Associated	Protein Coding	1
113	EP300	EP300 Lysine Acetyltransferase	Protein Coding	1
114	EPS15	Epidermal Growth Factor Receptor Pathway Substrate 15	Protein Coding	1
115	ERBB2	Erb-B2 Receptor Tyrosine Kinase 2	Protein Coding	1
116	ERBB3	Erb-B2 Receptor Tyrosine Kinase 3	Protein Coding	1
117	ERBB4	Erb-B2 Receptor Tyrosine Kinase 4	Protein Coding	1
118	EREG	Epiregulin	Protein Coding	1
119	AKT1	AKT Serine/Threonine Kinase 1	Protein Coding	1
120	AKT2	AKT Serine/Threonine Kinase 2	Protein Coding	1
121	ESR1	Estrogen Receptor 1	Protein Coding	1
122	F3	Coagulation Factor III, Tissue Factor	Protein Coding	1
123	PTK2B	Protein Tyrosine Kinase 2 Beta	Protein Coding	1
124	FAM83B	Family With Sequence Similarity 83 Member B	Protein Coding	1
125	FER	FER Tyrosine Kinase	Protein Coding	1
126	FES	FES Proto-Oncogene, Tyrosine Kinase	Protein Coding	1
127	FGF1	Fibroblast Growth Factor 1	Protein Coding	1
128	FGF2	Fibroblast Growth Factor 2	Protein Coding	1
129	FGF3	Fibroblast Growth Factor 3	Protein Coding	1
130	FGF4	Fibroblast Growth Factor 4	Protein Coding	1
131	FGF5	Fibroblast Growth Factor 5	Protein Coding	1
132	FGF6	Fibroblast Growth Factor 6	Protein Coding	1
133	FGF7	Fibroblast Growth Factor 7	Protein Coding	1
134	FGF8	Fibroblast Growth Factor 8	Protein Coding	1
135	FGF9	Fibroblast Growth Factor 9	Protein Coding	1
136	FGF10	Fibroblast Growth Factor 10	Protein Coding	1
137	FGFR1	Fibroblast Growth Factor Receptor 1	Protein Coding	1
138	FGFR3	Fibroblast Growth Factor Receptor 3	Protein Coding	1
139	FGFR2	Fibroblast Growth Factor Receptor 2	Protein Coding	1
140	FGFR4	Fibroblast Growth Factor Receptor 4	Protein Coding	1
141	VEGFD	Vascular Endothelial Growth Factor D	Protein Coding	1
142	NCBP2	Nuclear Cap Binding Protein Subunit 2	Protein Coding	1
143	TAB2	TGF-Beta Activated Kinase 1 (MAP3K7) Binding Protein 2	Protein Coding	1
144	GGA3	Golgi Associated, Gamma Adaptin Ear Containing, ARF Binding Protein 3	Protein Coding	1
145	CYFIP1	Cytoplasmic FMR1 Interacting Protein 1	Protein Coding	1
146	FLT1	Fms Related Receptor Tyrosine Kinase 1	Protein Coding	1
147	FLT3	Fms Related Receptor Tyrosine Kinase 3	Protein Coding	1
148	FLT3LG	Fms Related Receptor Tyrosine Kinase 3 Ligand	Protein Coding	1
149	ARC	Activity Regulated Cytoskeleton Associated Protein	Protein Coding	1
150	FLT4	Fms Related Receptor Tyrosine Kinase 4	Protein Coding	1
151	FN1	Fibronectin 1	Protein Coding	1
152	NCSTN	Nicastrin	Protein Coding	1
153	FOS	Fos Proto-Oncogene, AP-1 Transcription Factor Subunit	Protein Coding	1
154	FOSB	FosB Proto-Oncogene, AP-1 Transcription Factor Subunit	Protein Coding	1
155	RBFOX2	RNA Binding Fox-1 Homolog 2	Protein Coding	1
156	ATP6V0A2	ATPase H+ Transporting V0 Subunit A2	Protein Coding	1
157	FLRT3	Fibronectin Leucine Rich Transmembrane Protein 3	Protein Coding	1
158	FLRT2	Fibronectin Leucine Rich Transmembrane Protein 2	Protein Coding	1
159	FLRT1	Fibronectin Leucine Rich Transmembrane Protein 1	Protein Coding	1
160	ALK	ALK Receptor Tyrosine Kinase	Protein Coding	1
161	ATP6V0D2	ATPase H+ Transporting V0 Subunit D2	Protein Coding	1
162	ATP6V1C2	ATPase H+ Transporting V1 Subunit C2	Protein Coding	1
163	MTOR	Mechanistic Target Of Rapamycin Kinase	Protein Coding	1
164	RICTOR	RPTOR Independent Companion Of MTOR Complex 2	Protein Coding	1
165	FYN	FYN Proto-Oncogene, Src Family Tyrosine Kinase	Protein Coding	1
166	GAB1	GRB2 Associated Binding Protein 1	Protein Coding	1
167	EPGN	Epithelial Mitogen	Protein Coding	1
168	GABRA1	Gamma-Aminobutyric Acid Type A Receptor Subunit Alpha1	Protein Coding	1
169	COL24A1	Collagen Type XXIV Alpha 1 Chain	Protein Coding	1
170	GABRB1	Gamma-Aminobutyric Acid Type A Receptor Subunit Beta1	Protein Coding	1
171	COL6A5	Collagen Type VI Alpha 5 Chain	Protein Coding	1
172	GABRB2	Gamma-Aminobutyric Acid Type A Receptor Subunit Beta2	Protein Coding	1
173	GABRB3	Gamma-Aminobutyric Acid Type A Receptor Subunit Beta3	Protein Coding	1
174	GABRG2	Gamma-Aminobutyric Acid Type A Receptor Subunit Gamma2	Protein Coding	1
175	GABRG3	Gamma-Aminobutyric Acid Type A Receptor Subunit Gamma3	Protein Coding	1
176	SHC2	SHC Adaptor Protein 2	Protein Coding	1
177	GALNT3	Polypeptide N-Acetylgalactosaminyltransferase 3	Protein Coding	1
178	NELFB	Negative Elongation Factor Complex Member B	Protein Coding	1
179	SIN3A	SIN3 Transcription Regulator Family Member A	Protein Coding	1
180	LRIG1	Leucine Rich Repeats And Immunoglobulin Like Domains 1	Protein Coding	1
181	DNM3	Dynamin 3	Protein Coding	1
182	FGF20	Fibroblast Growth Factor 20	Protein Coding	1
183	PTPN18	Protein Tyrosine Phosphatase Non-Receptor Type 18	Protein Coding	1
184	GFAP	Glial Fibrillary Acidic Protein	Protein Coding	1
185	CYFIP2	Cytoplasmic FMR1 Interacting Protein 2	Protein Coding	1
186	FGF22	Fibroblast Growth Factor 22	Protein Coding	1
187	LAMA1	Laminin Subunit Alpha 1	Protein Coding	1
188	ALKAL2	ALK And LTK Ligand 2	Protein Coding	1
189	GRB2	Growth Factor Receptor Bound Protein 2	Protein Coding	1
190	GRB7	Growth Factor Receptor Bound Protein 7	Protein Coding	1
191	GRB10	Growth Factor Receptor Bound Protein 10	Protein Coding	1
192	RAPGEF1	Rap Guanine Nucleotide Exchange Factor 1	Protein Coding	1
193	GRIN2B	Glutamate Ionotropic Receptor NMDA Type Subunit 2B	Protein Coding	1
194	CD274	CD274 Molecule	Protein Coding	1
195	GTF2F1	General Transcription Factor IIF Subunit 1	Protein Coding	1
196	GTF2F2	General Transcription Factor IIF Subunit 2	Protein Coding	1
197	EPN1	Epsin 1	Protein Coding	1
198	SH3KBP1	SH3 Domain Containing Kinase Binding Protein 1	Protein Coding	1
199	HDAC1	Histone Deacetylase 1	Protein Coding	1
200	HDAC2	Histone Deacetylase 2	Protein Coding	1
201	NCKAP1L	NCK Associated Protein 1 Like	Protein Coding	1
202	HGF	Hepatocyte Growth Factor	Protein Coding	1
203	HGFAC	HGF Activator	Protein Coding	1
204	NRG1	Neuregulin 1	Protein Coding	1
205	PIK3R4	Phosphoinositide-3-Kinase Regulatory Subunit 4	Protein Coding	1
206	HIF1A	Hypoxia Inducible Factor 1 Subunit Alpha	Protein Coding	1
207	HNRNPA1	Heterogeneous Nuclear Ribonucleoprotein A1	Protein Coding	1
208	HNRNPF	Heterogeneous Nuclear Ribonucleoprotein F	Protein Coding	1
209	HNRNPH1	Heterogeneous Nuclear Ribonucleoprotein H1	Protein Coding	1
210	HPN	Hepsin	Protein Coding	1
211	HRAS	HRas Proto-Oncogene, GTPase	Protein Coding	1
212	HSPB1	Heat Shock Protein Family B (Small) Member 1	Protein Coding	1
213	HSP90AA1	Heat Shock Protein 90 Alpha Family Class A Member 1	Protein Coding	1
214	ID1	Inhibitor Of DNA Binding 1	Protein Coding	1
215	ID2	Inhibitor Of DNA Binding 2	Protein Coding	1
216	ID3	Inhibitor Of DNA Binding 3	Protein Coding	1
217	ID4	Inhibitor Of DNA Binding 4	Protein Coding	1
218	IDE	Insulin Degrading Enzyme	Protein Coding	1
219	IGF1	Insulin Like Growth Factor 1	Protein Coding	1
220	APOE	Apolipoprotein E	Protein Coding	1
221	IGF1R	Insulin Like Growth Factor 1 Receptor	Protein Coding	1
222	IGF2	Insulin Like Growth Factor 2	Protein Coding	1
223	IL2RG	Interleukin 2 Receptor Subunit Gamma	Protein Coding	1
224	INS	Insulin	Protein Coding	1
225	INSR	Insulin Receptor	Protein Coding	1
226	IRS1	Insulin Receptor Substrate 1	Protein Coding	1
227	ITGA2	Integrin Subunit Alpha 2	Protein Coding	1
228	ITGA3	Integrin Subunit Alpha 3	Protein Coding	1
229	ITGAV	Integrin Subunit Alpha V	Protein Coding	1
230	ITGB1	Integrin Subunit Beta 1	Protein Coding	1
231	ITGB3	Integrin Subunit Beta 3	Protein Coding	1
232	ITPR1	Inositol 1,4,5-Trisphosphate Receptor Type 1	Protein Coding	1
233	ITPR2	Inositol 1,4,5-Trisphosphate Receptor Type 2	Protein Coding	1
234	ITPR3	Inositol 1,4,5-Trisphosphate Receptor Type 3	Protein Coding	1
235	JAK2	Janus Kinase 2	Protein Coding	1
236	JAK3	Janus Kinase 3	Protein Coding	1
237	JUNB	JunB Proto-Oncogene, AP-1 Transcription Factor Subunit	Protein Coding	1
238	JUND	JunD Proto-Oncogene, AP-1 Transcription Factor Subunit	Protein Coding	1
239	JUP	Junction Plakoglobin	Protein Coding	1
240	ANOS1	Anosmin 1	Protein Coding	1
241	AREG	Amphiregulin	Protein Coding	1
242	KDR	Kinase Insert Domain Receptor	Protein Coding	1
243	KIT	KIT Proto-Oncogene, Receptor Tyrosine Kinase	Protein Coding	1
244	ARF6	ARF GTPase 6	Protein Coding	1
245	KRAS	KRAS Proto-Oncogene, GTPase	Protein Coding	1
246	RHOA	Ras Homolog Family Member A	Protein Coding	1
247	ALKAL1	ALK And LTK Ligand 1	Protein Coding	1
248	LAMA2	Laminin Subunit Alpha 2	Protein Coding	1
249	LAMA3	Laminin Subunit Alpha 3	Protein Coding	1
250	LAMA4	Laminin Subunit Alpha 4	Protein Coding	1
251	LAMA5	Laminin Subunit Alpha 5	Protein Coding	1
252	LAMB1	Laminin Subunit Beta 1	Protein Coding	1
253	LAMB2	Laminin Subunit Beta 2	Protein Coding	1
254	LAMB3	Laminin Subunit Beta 3	Protein Coding	1
255	LAMC1	Laminin Subunit Gamma 1	Protein Coding	1
256	LAMC2	Laminin Subunit Gamma 2	Protein Coding	1
257	STMN1	Stathmin 1	Protein Coding	1
258	LCK	LCK Proto-Oncogene, Src Family Tyrosine Kinase	Protein Coding	1
259	LTK	Leukocyte Receptor Tyrosine Kinase	Protein Coding	1
260	LYL1	LYL1 Basic Helix-Loop-Helix Family Member	Protein Coding	1
261	LYN	LYN Proto-Oncogene, Src Family Tyrosine Kinase	Protein Coding	1
262	MATK	Megakaryocyte-Associated Tyrosine Kinase	Protein Coding	1
263	MDK	Midkine	Protein Coding	1
264	MEF2A	Myocyte Enhancer Factor 2A	Protein Coding	1
265	MEF2C	Myocyte Enhancer Factor 2C	Protein Coding	1
266	MEF2D	Myocyte Enhancer Factor 2D	Protein Coding	1
267	MET	MET Proto-Oncogene, Receptor Tyrosine Kinase	Protein Coding	1
268	KITLG	KIT Ligand	Protein Coding	1
269	ASCL1	Achaete-Scute Family BHLH Transcription Factor 1	Protein Coding	1
270	MMP9	Matrix Metallopeptidase 9	Protein Coding	1
271	MST1	Macrophage Stimulating 1	Protein Coding	1
272	MST1R	Macrophage Stimulating 1 Receptor	Protein Coding	1
273	MYC	MYC Proto-Oncogene, BHLH Transcription Factor	Protein Coding	1
274	MYCN	MYCN Proto-Oncogene, BHLH Transcription Factor	Protein Coding	1
275	ATF1	Activating Transcription Factor 1	Protein Coding	1
276	NAB1	NGFI-A Binding Protein 1	Protein Coding	1
277	NAB2	NGFI-A Binding Protein 2	Protein Coding	1
278	HNRNPM	Heterogeneous Nuclear Ribonucleoprotein M	Protein Coding	1
279	NCBP1	Nuclear Cap Binding Protein Subunit 1	Protein Coding	1
280	NCF2	Neutrophil Cytosolic Factor 2	Protein Coding	1
281	NCF4	Neutrophil Cytosolic Factor 4	Protein Coding	1
282	NCK1	NCK Adaptor Protein 1	Protein Coding	1
283	NEDD4	NEDD4 E3 Ubiquitin Protein Ligase	Protein Coding	1
284	NGF	Nerve Growth Factor	Protein Coding	1
285	NOS3	Nitric Oxide Synthase 3	Protein Coding	1
286	NRAS	NRAS Proto-Oncogene, GTPase	Protein Coding	1
287	NTF3	Neurotrophin 3	Protein Coding	1
288	NTF4	Neurotrophin 4	Protein Coding	1
289	NTRK1	Neurotrophic Receptor Tyrosine Kinase 1	Protein Coding	1
290	NTRK2	Neurotrophic Receptor Tyrosine Kinase 2	Protein Coding	1
291	NTRK3	Neurotrophic Receptor Tyrosine Kinase 3	Protein Coding	1
292	FURIN	Furin, Paired Basic Amino Acid Cleaving Enzyme	Protein Coding	1
293	PCSK6	Proprotein Convertase Subtilisin/Kexin Type 6	Protein Coding	1
294	COL5A3	Collagen Type V Alpha 3 Chain	Protein Coding	1
295	PAK1	P21 (RAC1) Activated Kinase 1	Protein Coding	1
296	ATP6V0A4	ATPase H+ Transporting V0 Subunit A4	Protein Coding	1
297	PAK2	P21 (RAC1) Activated Kinase 2	Protein Coding	1
298	PAK3	P21 (RAC1) Activated Kinase 3	Protein Coding	1
299	MEMO1	Mediator Of Cell Motility 1	Protein Coding	1
300	APH1A	Aph-1A Gamma-Secretase Subunit	Protein Coding	1
301	VRK3	VRK Serine/Threonine Kinase 3	Protein Coding	1
302	PCSK5	Proprotein Convertase Subtilisin/Kexin Type 5	Protein Coding	1
303	ATP6V1D	ATPase H+ Transporting V1 Subunit D	Protein Coding	1
304	PDE3B	Phosphodiesterase 3B	Protein Coding	1
305	PDGFA	Platelet Derived Growth Factor Subunit A	Protein Coding	1
306	PDGFB	Platelet Derived Growth Factor Subunit B	Protein Coding	1
307	PDGFRA	Platelet Derived Growth Factor Receptor Alpha	Protein Coding	1
308	PDGFRB	Platelet Derived Growth Factor Receptor Beta	Protein Coding	1
309	ATP6V1H	ATPase H+ Transporting V1 Subunit H	Protein Coding	1
310	PDPK1	3-Phosphoinositide Dependent Protein Kinase 1	Protein Coding	1
311	WWOX	WW Domain Containing Oxidoreductase	Protein Coding	1
312	PGF	Placental Growth Factor	Protein Coding	1
313	ATP6V1A	ATPase H+ Transporting V1 Subunit A	Protein Coding	1
314	PGR	Progesterone Receptor	Protein Coding	1
315	ATP6V1B1	ATPase H+ Transporting V1 Subunit B1	Protein Coding	1
316	ATP6V1B2	ATPase H+ Transporting V1 Subunit B2	Protein Coding	1
317	ATP6V0C	ATPase H+ Transporting V0 Subunit C	Protein Coding	1
318	ATP6V1C1	ATPase H+ Transporting V1 Subunit C1	Protein Coding	1
319	PIK3C3	Phosphatidylinositol 3-Kinase Catalytic Subunit Type 3	Protein Coding	1
320	ATP6V1E1	ATPase H+ Transporting V1 Subunit E1	Protein Coding	1
321	PIK3CA	Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha	Protein Coding	1
322	PIK3CB	Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Beta	Protein Coding	1
323	PIK3R1	Phosphoinositide-3-Kinase Regulatory Subunit 1	Protein Coding	1
324	PIK3R2	Phosphoinositide-3-Kinase Regulatory Subunit 2	Protein Coding	1
325	PLAT	Plasminogen Activator, Tissue Type	Protein Coding	1
326	ATP6V0B	ATPase H+ Transporting V0 Subunit B	Protein Coding	1
327	PLCG1	Phospholipase C Gamma 1	Protein Coding	1
328	SHC3	SHC Adaptor Protein 3	Protein Coding	1
329	ATP6V1G2	ATPase H+ Transporting V1 Subunit G2	Protein Coding	1
330	PLG	Plasminogen	Protein Coding	1
331	ATP6V0A1	ATPase H+ Transporting V0 Subunit A1	Protein Coding	1
332	ATP6AP1	ATPase H+ Transporting Accessory Protein 1	Protein Coding	1
333	FGFRL1	Fibroblast Growth Factor Receptor Like 1	Protein Coding	1
334	RAB4B	RAB4B, Member RAS Oncogene Family	Protein Coding	1
335	TLR9	Toll Like Receptor 9	Protein Coding	1
336	POLR2A	RNA Polymerase II Subunit A	Protein Coding	1
337	POLR2B	RNA Polymerase II Subunit B	Protein Coding	1
338	POLR2C	RNA Polymerase II Subunit C	Protein Coding	1
339	POLR2D	RNA Polymerase II Subunit D	Protein Coding	1
340	POLR2E	RNA Polymerase II, I And III Subunit E	Protein Coding	1
341	POLR2F	RNA Polymerase II, I And III Subunit F	Protein Coding	1
342	POLR2G	RNA Polymerase II Subunit G	Protein Coding	1
343	POLR2H	RNA Polymerase II, I And III Subunit H	Protein Coding	1
344	POLR2I	RNA Polymerase II Subunit I	Protein Coding	1
345	POLR2J	RNA Polymerase II Subunit J	Protein Coding	1
346	POLR2K	RNA Polymerase II, I And III Subunit K	Protein Coding	1
347	POLR2L	RNA Polymerase II, I And III Subunit L	Protein Coding	1
348	ESRP1	Epithelial Splicing Regulatory Protein 1	Protein Coding	1
349	PPP2CA	Protein Phosphatase 2 Catalytic Subunit Alpha	Protein Coding	1
350	PPP2CB	Protein Phosphatase 2 Catalytic Subunit Beta	Protein Coding	1
351	PPP2R1A	Protein Phosphatase 2 Scaffold Subunit Aalpha	Protein Coding	1
352	PPP2R1B	Protein Phosphatase 2 Scaffold Subunit Abeta	Protein Coding	1
353	PPP2R5D	Protein Phosphatase 2 Regulatory Subunit B''Delta	Protein Coding	1
354	PRR5	Proline Rich 5	Protein Coding	1
355	PRKACA	Protein Kinase CAMP-Activated Catalytic Subunit Alpha	Protein Coding	1
356	PRKACB	Protein Kinase CAMP-Activated Catalytic Subunit Beta	Protein Coding	1
357	PRKACG	Protein Kinase CAMP-Activated Catalytic Subunit Gamma	Protein Coding	1
358	PRKCA	Protein Kinase C Alpha	Protein Coding	1
359	PRKCB	Protein Kinase C Beta	Protein Coding	1
360	AXL	AXL Receptor Tyrosine Kinase	Protein Coding	1
361	PRKCD	Protein Kinase C Delta	Protein Coding	1
362	PRKCE	Protein Kinase C Epsilon	Protein Coding	1
363	PAG1	Phosphoprotein Membrane Anchor With Glycosphingolipid Microdomains 1	Protein Coding	1
364	BRK1	BRICK1 Subunit Of SCAR/WAVE Actin Nucleating Complex	Protein Coding	1
365	PSENEN	Presenilin Enhancer, Gamma-Secretase Subunit	Protein Coding	1
366	GABRQ	Gamma-Aminobutyric Acid Type A Receptor Subunit Theta	Protein Coding	1
367	PRKCZ	Protein Kinase C Zeta	Protein Coding	1
368	ERBIN	Erbb2 Interacting Protein	Protein Coding	1
369	MAPK1	Mitogen-Activated Protein Kinase 1	Protein Coding	1
370	MAPK3	Mitogen-Activated Protein Kinase 3	Protein Coding	1
371	MAPK7	Mitogen-Activated Protein Kinase 7	Protein Coding	1
372	MAPK11	Mitogen-Activated Protein Kinase 11	Protein Coding	1
373	MAPK13	Mitogen-Activated Protein Kinase 13	Protein Coding	1
374	PDGFC	Platelet Derived Growth Factor C	Protein Coding	1
375	MAP2K1	Mitogen-Activated Protein Kinase Kinase 1	Protein Coding	1
376	MAP2K2	Mitogen-Activated Protein Kinase Kinase 2	Protein Coding	1
377	MAP2K5	Mitogen-Activated Protein Kinase Kinase 5	Protein Coding	1
378	PSEN1	Presenilin 1	Protein Coding	1
379	PSEN2	Presenilin 2	Protein Coding	1
380	PTBP1	Polypyrimidine Tract Binding Protein 1	Protein Coding	1
381	PTK2	Protein Tyrosine Kinase 2	Protein Coding	1
382	KIDINS220	Kinase D Interacting Substrate 220	Protein Coding	1
383	PTK6	Protein Tyrosine Kinase 6	Protein Coding	1
384	RANBP10	RAN Binding Protein 10	Protein Coding	1
385	PTN	Pleiotrophin	Protein Coding	1
386	PTPN1	Protein Tyrosine Phosphatase Non-Receptor Type 1	Protein Coding	1
387	PTPN2	Protein Tyrosine Phosphatase Non-Receptor Type 2	Protein Coding	1
388	PTPN3	Protein Tyrosine Phosphatase Non-Receptor Type 3	Protein Coding	1
389	TRIB3	Tribbles Pseudokinase 3	Protein Coding	1
390	PTPN6	Protein Tyrosine Phosphatase Non-Receptor Type 6	Protein Coding	1
391	PTPN11	Protein Tyrosine Phosphatase Non-Receptor Type 11	Protein Coding	1
392	PTPN12	Protein Tyrosine Phosphatase Non-Receptor Type 12	Protein Coding	1
393	PTPRF	Protein Tyrosine Phosphatase Receptor Type F	Protein Coding	1
394	PTPRJ	Protein Tyrosine Phosphatase Receptor Type J	Protein Coding	1
395	PTPRK	Protein Tyrosine Phosphatase Receptor Type K	Protein Coding	1
396	PTPRO	Protein Tyrosine Phosphatase Receptor Type O	Protein Coding	1
397	PTPRS	Protein Tyrosine Phosphatase Receptor Type S	Protein Coding	1
398	PTPRZ1	Protein Tyrosine Phosphatase Receptor Type Z1	Protein Coding	1
399	PXN	Paxillin	Protein Coding	1
400	EPS15L1	Epidermal Growth Factor Receptor Pathway Substrate 15 Like 1	Protein Coding	1
401	RAB4A	RAB4A, Member RAS Oncogene Family	Protein Coding	1
402	RAC1	Rac Family Small GTPase 1	Protein Coding	1
403	RALA	RAS Like Proto-Oncogene A	Protein Coding	1
404	RALB	RAS Like Proto-Oncogene B	Protein Coding	1
405	RALGDS	Ral Guanine Nucleotide Dissociation Stimulator	Protein Coding	1
406	RAP1A	RAP1A, Member Of RAS Oncogene Family	Protein Coding	1
407	RAP1B	RAP1B, Member Of RAS Oncogene Family	Protein Coding	1
408	RASA1	RAS P21 Protein Activator 1	Protein Coding	1
409	REST	RE1 Silencing Transcription Factor	Protein Coding	1
410	ACTB	Actin Beta	Protein Coding	1
411	RIT2	Ras Like Without CAAX 2	Protein Coding	1
412	RIT1	Ras Like Without CAAX 1	Protein Coding	1
413	ROCK1	Rho Associated Coiled-Coil Containing Protein Kinase 1	Protein Coding	1
414	RPS6KA1	Ribosomal Protein S6 Kinase A1	Protein Coding	1
415	RPS6KA2	Ribosomal Protein S6 Kinase A2	Protein Coding	1
416	RPS6KA3	Ribosomal Protein S6 Kinase A3	Protein Coding	1
417	RPS27A	Ribosomal Protein S27a	Protein Coding	1
418	RRAD	RRAD, Ras Related Glycolysis Inhibitor And Calcium Channel Regulator	Protein Coding	1
419	BDNF	Brain Derived Neurotrophic Factor	Protein Coding	1
420	S100B	S100 Calcium Binding Protein B	Protein Coding	1
421	MAPK12	Mitogen-Activated Protein Kinase 12	Protein Coding	1
422	CXCL12	C-X-C Motif Chemokine Ligand 12	Protein Coding	1
423	PRDM1	PR/SET Domain 1	Protein Coding	1
424	ELMO2	Engulfment And Cell Motility 2	Protein Coding	1
425	MLST8	MTOR Associated Protein MLST8	Protein Coding	1
426	SGK1	Serum/Glucocorticoid Regulated Kinase 1	Protein Coding	1
427	SH3GL1	SH3 Domain Containing GRB2 Like 1, Endophilin A2	Protein Coding	1
428	SH3GL2	SH3 Domain Containing GRB2 Like 2, Endophilin A1	Protein Coding	1
429	SH3GL3	SH3 Domain Containing GRB2 Like 3, Endophilin A3	Protein Coding	1
430	SHB	SH2 Domain Containing Adaptor Protein B	Protein Coding	1
431	SHC1	SHC Adaptor Protein 1	Protein Coding	1
432	TNS3	Tensin 3	Protein Coding	1
433	NCF1	Neutrophil Cytosolic Factor 1	Protein Coding	1
434	SOS1	SOS Ras/Rac Guanine Nucleotide Exchange Factor 1	Protein Coding	1
435	SPARC	Secreted Protein Acidic And Cysteine Rich	Protein Coding	1
436	SPINT1	Serine Peptidase Inhibitor, Kunitz Type 1	Protein Coding	1
437	SPP1	Secreted Phosphoprotein 1	Protein Coding	1
438	SRC	SRC Proto-Oncogene, Non-Receptor Tyrosine Kinase	Protein Coding	1
439	SRF	Serum Response Factor	Protein Coding	1
440	BRAF	B-Raf Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	1
441	STAT1	Signal Transducer And Activator Of Transcription 1	Protein Coding	1
442	STAT3	Signal Transducer And Activator Of Transcription 3	Protein Coding	1
443	STAT5A	Signal Transducer And Activator Of Transcription 5A	Protein Coding	1
444	STAT5B	Signal Transducer And Activator Of Transcription 5B	Protein Coding	1
445	STAT6	Signal Transducer And Activator Of Transcription 6	Protein Coding	1
446	BTC	Betacellulin	Protein Coding	1
447	ADAM17	ADAM Metallopeptidase Domain 17	Protein Coding	1
448	TCF12	Transcription Factor 12	Protein Coding	1
449	TGFA	Transforming Growth Factor Alpha	Protein Coding	1
450	TGFBR3	Transforming Growth Factor Beta Receptor 3	Protein Coding	1
451	THBS1	Thrombospondin 1	Protein Coding	1
452	THBS2	Thrombospondin 2	Protein Coding	1
453	THBS3	Thrombospondin 3	Protein Coding	1
454	THBS4	Thrombospondin 4	Protein Coding	1
455	TIA1	TIA1 Cytotoxic Granule Associated RNA Binding Protein	Protein Coding	1
456	TIAL1	TIA1 Cytotoxic Granule Associated RNA Binding Protein Like 1	Protein Coding	1
457	TIAM1	TIAM Rac1 Associated GEF 1	Protein Coding	1
458	ACTG1	Actin Gamma 1	Protein Coding	1
459	TPH1	Tryptophan Hydroxylase 1	Protein Coding	1
460	UBA52	Ubiquitin A-52 Residue Ribosomal Protein Fusion Product 1	Protein Coding	1
461	UBB	Ubiquitin B	Protein Coding	1
462	UBC	Ubiquitin C	Protein Coding	1
463	VAV1	Vav Guanine Nucleotide Exchange Factor 1	Protein Coding	1
464	VAV2	Vav Guanine Nucleotide Exchange Factor 2	Protein Coding	1
465	VEGFA	Vascular Endothelial Growth Factor A	Protein Coding	1
466	VEGFB	Vascular Endothelial Growth Factor B	Protein Coding	1
467	VEGFC	Vascular Endothelial Growth Factor C	Protein Coding	1
468	VGF	VGF Nerve Growth Factor Inducible	Protein Coding	1
469	YES1	YES Proto-Oncogene 1, Src Family Tyrosine Kinase	Protein Coding	1
470	YWHAB	Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Beta	Protein Coding	1
471	MAPKAPK3	MAPK Activated Protein Kinase 3	Protein Coding	1
472	MAPKAP1	MAPK Associated Protein 1	Protein Coding	1
473	ESRP2	Epithelial Splicing Regulatory Protein 2	Protein Coding	1
474	CALM1	Calmodulin 1	Protein Coding	1
475	STAM	Signal Transducing Adaptor Molecule	Protein Coding	1
476	PDGFD	Platelet Derived Growth Factor D	Protein Coding	1
477	ADAM12	ADAM Metallopeptidase Domain 12	Protein Coding	1
478	CALM2	Calmodulin 2	Protein Coding	1
479	FOSL1	FOS Like 1, AP-1 Transcription Factor Subunit	Protein Coding	1
480	CUL5	Cullin 5	Protein Coding	1
481	FGF23	Fibroblast Growth Factor 23	Protein Coding	1
482	CALM3	Calmodulin 3	Protein Coding	1
483	FAM83D	Family With Sequence Similarity 83 Member D	Protein Coding	1
484	APH1B	Aph-1B Gamma-Secretase Subunit	Protein Coding	1
485	ITCH	Itchy E3 Ubiquitin Protein Ligase	Protein Coding	1
486	FGFBP2	Fibroblast Growth Factor Binding Protein 2	Protein Coding	1
487	NCK2	NCK Adaptor Protein 2	Protein Coding	1
488	IRS4	Insulin Receptor Substrate 4	Protein Coding	1
489	CILP	Cartilage Intermediate Layer Protein	Protein Coding	1
490	TNS4	Tensin 4	Protein Coding	1
491	FAM83A	Family With Sequence Similarity 83 Member A	Protein Coding	1
492	PIK3R3	Phosphoinositide-3-Kinase Regulatory Subunit 3	Protein Coding	1
493	COL27A1	Collagen Type XXVII Alpha 1 Chain	Protein Coding	1
494	DOCK7	Dedicator Of Cytokinesis 7	Protein Coding	1
495	MKNK1	MAPK Interacting Serine/Threonine Kinase 1	Protein Coding	1
496	CAV1	Caveolin 1	Protein Coding	1
497	SOCS1	Suppressor Of Cytokine Signaling 1	Protein Coding	1
498	IRS2	Insulin Receptor Substrate 2	Protein Coding	1
499	CBL	Cbl Proto-Oncogene	Protein Coding	1
500	FGF18	Fibroblast Growth Factor 18	Protein Coding	1
501	FGF17	Fibroblast Growth Factor 17	Protein Coding	1
502	FGF16	Fibroblast Growth Factor 16	Protein Coding	1
503	NRP2	Neuropilin 2	Protein Coding	1
504	NRP1	Neuropilin 1	Protein Coding	1
505	HDAC3	Histone Deacetylase 3	Protein Coding	1
506	CDK5R1	Cyclin Dependent Kinase 5 Regulatory Subunit 1	Protein Coding	1
507	ARHGEF7	Rho Guanine Nucleotide Exchange Factor 7	Protein Coding	1
508	SPHK1	Sphingosine Kinase 1	Protein Coding	1
509	WASF1	WASP Family Member 1	Protein Coding	1
510	CDK5R2	Cyclin Dependent Kinase 5 Regulatory Subunit 2	Protein Coding	1
511	ATP6V0E1	ATPase H+ Transporting V0 Subunit E1	Protein Coding	1
512	ATP6V1E2	ATPase H+ Transporting V1 Subunit E2	Protein Coding	1
513	SH2D2A	SH2 Domain Containing 2A	Protein Coding	1
514	USP8	Ubiquitin Specific Peptidase 8	Protein Coding	1
515	ATP6V0D1	ATPase H+ Transporting V0 Subunit D1	Protein Coding	1
516	HGS	Hepatocyte Growth Factor-Regulated Tyrosine Kinase Substrate	Protein Coding	1
517	RPS6KA5	Ribosomal Protein S6 Kinase A5	Protein Coding	1
518	MAPKAPK2	MAPK Activated Protein Kinase 2	Protein Coding	1
519	ATP6V1F	ATPase H+ Transporting V1 Subunit F	Protein Coding	1
520	SOCS6	Suppressor Of Cytokine Signaling 6	Protein Coding	1
521	KL	Klotho	Protein Coding	1
522	GRAP2	GRB2 Related Adaptor Protein 2	Protein Coding	1
523	ROCK2	Rho Associated Coiled-Coil Containing Protein Kinase 2	Protein Coding	1
524	NRG2	Neuregulin 2	Protein Coding	1
525	ATP6V1G1	ATPase H+ Transporting V1 Subunit G1	Protein Coding	1
526	BCAR1	BCAR1 Scaffold Protein, Cas Family Member	Protein Coding	1
527	NCOR1	Nuclear Receptor Corepressor 1	Protein Coding	1
528	ELMO1	Engulfment And Cell Motility 1	Protein Coding	1
529	GAB2	GRB2 Associated Binding Protein 2	Protein Coding	1
530	FGF19	Fibroblast Growth Factor 19	Protein Coding	1
531	CDC42	Cell Division Cycle 42	Protein Coding	1
532	FGFBP1	Fibroblast Growth Factor Binding Protein 1	Protein Coding	1

Disorders associated with Signaling by Receptor Tyrosine Kinases SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Noonan syndrome and noonan-related syndrome	Enrichment	BRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RIT1, SOS1, SPRED1	10.68
2	Noonan syndrome 1	Enrichment	BRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RIT1, SOS1, SPRED2	9.55
3	Lung non-small cell carcinoma	Enrichment	BRAF, EGFR, ERBB2, HRAS, KRAS, MAP2K1, NRAS, PIK3CA	9.10
4	Rasopathy	Enrichment	ATP6V1E1, BRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RIT1, SOS1	8.86
5	Colorectal cancer	Enrichment	AKT1, BRAF, CTNNA1, CTNNB1, EP300, ERBB2, FGFR2, FGFR3, IGF2, MET, NRAS, PIK3CA, PIK3R1, PTPN12, PTPRJ, SRC	6.65
6	Lung squamous cell carcinoma	Enrichment	ALK, EGFR, FGFR3, KRAS, PIK3CA	6.28
7	Nevus, epidermal	Enrichment	FGFR3, HRAS, KRAS, NRAS, PIK3CA	5.75
8	Intervertebral disc disease	Enrichment	CILP, COL11A1, COL9A2, COL9A3, THBS2	5.75
9	Noonan syndrome 3	Enrichment	CLTC, HRAS, KRAS, PTPN11, SOS1	5.75
10	Cardiofaciocutaneous syndrome 1	Enrichment	BRAF, KRAS, MAP2K1, MAP2K2	5.63
11	Megalencephaly-capillary malformation-polymicrogyria syndrome	Enrichment	AKT3, PIK3CA, PIK3R2, RIT1	5.63
12	Cardiofaciocutaneous syndrome	Enrichment	BRAF, KRAS, MAP2K1, MAP2K2	5.63
13	Nk-cell enteropathy	Enrichment	AXL, ERBB4, IGF1R, JAK3, PIK3CB, PTPRS	5.32
14	Chronic granulomatous disease	Enrichment	CYBA, CYBB, NCF1, NCF2, NCF4	5.00
15	Bladder cancer	Enrichment	CTNNB1, EGFR, ERBB2, ERBB3, FGFR3, HRAS, KRAS, PIK3CA	4.96
16	Kallmann syndrome	Enrichment	ANOS1, DUSP6, FGF17, FGF8, FGFR1, FLRT3, POLR2F	4.71
17	Stickler syndrome	Enrichment	COL11A1, COL2A1, COL9A1, COL9A2, COL9A3	4.71
18	Lung cancer	Enrichment	ALK, BRAF, EGFR, ERBB2, KRAS, MET, PIK3CA, PPP2R1B	4.61
19	Ehlers-danlos syndrome, classic type, 1	Enrichment	COL1A1, COL1A2, COL5A1, COL5A2	4.48
20	Classic ehlers-danlos syndrome	Enrichment	COL1A1, COL1A2, COL5A1, COL5A2	4.48
21	Lip and oral cavity carcinoma	Enrichment	BRAF, EGFR, HRAS, KIT, PIK3CA	4.24
22	Lacrimoauriculodentodigital syndrome 1	Enrichment	FGF10, FGFR2, FGFR3	4.22
23	Tumoral calcinosis, hyperphosphatemic, familial, 1	Enrichment	FGF23, GALNT3, KL	4.22
24	Langerhans cell histiocytosis	Enrichment	BRAF, MAP2K1, NRAS	4.22
25	Alzheimer disease 4	Enrichment	APOE, PSEN1, PSEN2	4.22
26	Autosomal recessive cutis laxa type ii classic type	Enrichment	ATP6V0A2, ATP6V1A, ATP6V1E1	4.22
27	Multiple epiphyseal dysplasia due to collagen 9 anomaly	Enrichment	COL9A1, COL9A2, COL9A3	4.22
28	Collagen vi-related dystrophies	Enrichment	COL6A1, COL6A2, COL6A3	4.22
29	Intermediate collagen vi-related muscular dystrophy	Enrichment	COL6A1, COL6A2, COL6A3	4.22
30	Digenic alport syndrome	Enrichment	COL4A3, COL4A4, COL4A5	4.22
31	Ehlers-danlos syndrome	Enrichment	COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, THBS2	4.21
32	Capillary malformation-arteriovenous malformation 1	Enrichment	KRAS, MAP2K1, PIK3CA, RASA1	4.13
33	Gallbladder cancer	Enrichment	BRAF, CTNNB1, KRAS, PIK3CA	4.13
34	Pilomyxoid astrocytoma	Enrichment	BRAF, FGFR1, KRAS, NTRK2	4.13
35	Differentiated thyroid carcinoma	Enrichment	ALK, BRAF, HRAS, KRAS, NRAS, NTRK1, NTRK3	4.00
36	Lung cancer susceptibility 3	Enrichment	BRAF, EGFR, ERBB2, FGF10, KRAS	3.87
37	Melanocytic nevus syndrome, congenital	Enrichment	ALK, BRAF, HRAS, NRAS	3.84
38	Schimmelpenning-feuerstein-mims syndrome	Enrichment	HRAS, KRAS, NRAS	3.63
39	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	Enrichment	CBL, CDC42, PTPN11	3.63
40	Autosomal recessive stickler syndrome	Enrichment	COL9A1, COL9A2, COL9A3	3.63
41	Bethlem muscular dystrophy	Enrichment	COL6A1, COL6A2, COL6A3	3.63
42	Arteriovenous malformation	Enrichment	HRAS, MAP2K1, PIK3CA, RASA1	3.60
43	Myeloma, multiple	Enrichment	BRAF, FGFR3, FLT3, KRAS, MST1R, PIK3R2, SGK1, SH2B3, YAP1	3.52
44	Myopathy, x-linked, with excessive autophagy	Enrichment	HRAS, MAP2K1, PIK3CA, RASA1	3.39
45	Alport syndrome 3a, autosomal dominant	Enrichment	COL4A3, COL4A4, COL4A5	3.25
46	Ullrich congenital muscular dystrophy 1a	Enrichment	COL6A1, COL6A2, COL6A3	3.25
47	Autosomal dominant alport syndrome	Enrichment	COL4A3, COL4A4, COL4A5	3.25
48	Hemimegalencephaly	Enrichment	AKT3, MTOR, PIK3CA	3.25
49	Alport syndrome	Enrichment	COL4A3, COL4A4, COL4A5	3.25
50	Primary hypereosinophilic syndrome	Enrichment	FGFR1, PDGFRA, PDGFRB	3.25
51	Craniosynostosis	Enrichment	CTNNA1, FGFR2, FGFR3, GRIN2B, TCF12	3.06
52	Juvenile myelomonocytic leukemia	Enrichment	CBL, KRAS, NRAS, PTPN11	3.05
53	Renal tubular acidosis, distal, 1	Enrichment	ATP6V0A4, ATP6V1B1, ATP6V1C2	2.96
54	Epidermolysis bullosa, junctional 1a, intermediate	Enrichment	LAMA3, LAMB3, LAMC2	2.96
55	Hemihyperplasia, isolated	Enrichment	IGF2, PIK3CA, RHOA	2.96
56	Epidermolysis bullosa, junctional 1b, severe	Enrichment	LAMA3, LAMB3, LAMC2	2.96
57	Testicular germ cell tumor	Enrichment	FGFR3, KIT, KITLG	2.96
58	Hemangioma, capillary infantile	Enrichment	FLT4, KDR, RASA1	2.96
59	Junctional epidermolysis bullosa non-herlitz type	Enrichment	LAMA3, LAMB3, LAMC2	2.96
60	Keratoconus	Enrichment	COL1A1, COL4A1, COL5A2	2.96
61	Breast adenocarcinoma	Enrichment	AKT1, KRAS, PIK3CA	2.96
62	Distal renal tubular acidosis	Enrichment	ATP6V0A4, ATP6V1B1, ATP6V1C2	2.96
63	Childhood absence epilepsy	Enrichment	GABRA1, GABRB3, GABRG2	2.96
64	Nephrotic syndrome	Enrichment	COL4A3, COL4A4, COL4A5, FN1, ITGA3, LAMA5, LAMB2	2.89
65	Connective tissue disease	Enrichment	COL11A1, COL2A1, COL5A1, COL9A1, COL9A3, FGFR3	2.87
66	Undetermined early-onset epileptic encephalopathy	Enrichment	ATP6V1A, CLTC, CYFIP2, DNM1, GABRB2, GABRG2, NTRK2, WWOX	2.84
67	Fibromatosis, gingival, 1	Enrichment	REST, SOS1	2.81
68	Spondyloepimetaphyseal dysplasia, strudwick type	Enrichment	COL2A1, FN1	2.81
69	Spondylometaphyseal dysplasia, corner fracture type	Enrichment	COL2A1, FN1	2.81
70	Hemangiopericytoma, malignant	Enrichment	NAB2, STAT6	2.81
71	Otospondylomegaepiphyseal dysplasia, autosomal recessive	Enrichment	COL11A2, COL2A1	2.81
72	Alzheimer disease 3	Enrichment	APOE, PSEN1	2.81
73	Dermatofibrosarcoma protuberans	Enrichment	COL1A1, PDGFB	2.81
74	Pulmonic stenosis	Enrichment	BRAF, SOS1	2.81
75	Keratosis, seborrheic	Enrichment	FGFR3, PIK3CA	2.81
76	Pfeiffer syndrome	Enrichment	FGFR1, FGFR2	2.81
77	Jackson-weiss syndrome	Enrichment	FGFR1, FGFR2	2.81
78	Encephalocraniocutaneous lipomatosis	Enrichment	FGFR1, KRAS	2.81
79	Ras-associated autoimmune leukoproliferative disorder	Enrichment	KRAS, NRAS	2.81
80	Otospondylomegaepiphyseal dysplasia, autosomal dominant	Enrichment	COL11A2, COL2A1	2.81
81	Noonan syndrome 8	Enrichment	PIK3CA, RIT1	2.81
82	Spastic paraplegia, intellectual disability, nystagmus, and obesity	Enrichment	GFAP, KIDINS220	2.81
83	Immunodeficiency 72 with autoinflammation and lymphoproliferation	Enrichment	NCKAP1, NCKAP1L	2.81
84	Ehlers-danlos syndrome, arthrochalasia type, 2	Enrichment	COL1A1, COL1A2	2.81
85	Fibrochondrogenesis	Enrichment	COL11A1, COL11A2	2.81
86	Childhood hepatocellular carcinoma	Enrichment	CTNNB1, MET	2.81
87	Rosette-forming glioneuronal tumor	Enrichment	FGFR1, PIK3CA	2.81
88	Stickler syndrome, type ii	Enrichment	COL11A1, COL1A1	2.81
89	Baraitser-winter cerebrofrontofacial syndrome	Enrichment	ACTB, ACTG1	2.81
90	Ehlers-danlos/osteogenesis imperfecta syndrome	Enrichment	COL1A1, COL1A2	2.81
91	Immunodeficiency 72	Enrichment	NCKAP1, NCKAP1L	2.81
92	Bethlem myopathy 1a	Enrichment	COL6A1, COL6A2, COL6A3	2.73
93	Thyroid cancer, nonmedullary, 2	Enrichment	BRAF, HRAS, NRAS	2.73
94	Myelofibrosis	Enrichment	JAK2, SH2B3, SRC	2.73
95	Follicular thyroid carcinoma	Enrichment	BRAF, HRAS, NRAS	2.73
96	Ovarian cancer	Enrichment	AKT1, ALK, CTNNB1, EGFR, ERBB2, KIT, KRAS, MET, NTRK1, PDGFRA, PIK3CA	2.70
97	Kidney disease	Enrichment	COL4A3, COL4A4, COL4A5, LAMB2	2.65
98	Lennox-gastaut syndrome	Enrichment	DNM1, GABRB3, GABRG2	2.54
99	Catecholaminergic polymorphic ventricular tachycardia	Enrichment	CALM1, CALM2, CALM3	2.54
100	Microcephaly	Enrichment	ACTB, ACTG1, ATP6V0A1, COL4A1, CTNNB1, DIAPH1, EP300, GRIN2B, IGF1R, MAPK1, PAK3, PTPN11	2.49
101	Adult hepatocellular carcinoma	Enrichment	CTNNB1, EGF, PIK3CA	2.37
102	Junctional epidermolysis bullosa	Enrichment	LAMA3, LAMB3, LAMC2	2.37
103	Leukemia, acute myeloid	Enrichment	FLT3, JAK2, KIT, KRAS, NRAS, SH3GL1	2.36
104	Crouzon syndrome	Enrichment	FGFR2, FGFR3	2.35
105	Hyper-ige syndrome 1, autosomal dominant, with recurrent infections	Enrichment	ITGB3, STAT3	2.35
106	Hematuria, benign familial, 1	Enrichment	COL4A3, COL4A4	2.35
107	Telecanthus	Enrichment	COL11A1, COL5A2	2.35
108	Granulomatous disease, chronic, autosomal recessive, 2	Enrichment	NCF1, NCF2	2.35
109	Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss	Enrichment	ATP6V0A4, ATP6V1B1	2.35
110	Ehlers-danlos syndrome, classic type, 2	Enrichment	COL5A1, COL5A2	2.35
111	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	Enrichment	PIK3CA, PIK3R1	2.35
112	Deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome	Enrichment	ATP6V1B2, ATP6V1C1	2.35
113	Large congenital melanocytic nevus	Enrichment	HRAS, NRAS	2.35
114	Breast implant-associated anaplastic large cell lymphoma	Enrichment	JAK2, STAT3	2.35
115	Testicular germ cell cancer	Enrichment	FGFR3, KIT	2.35
116	Spermatocytoma	Enrichment	FGFR3, HRAS	2.35
117	High bone mass osteogenesis imperfecta	Enrichment	COL1A1, COL1A2	2.35
118	Neonatal inflammatory skin and bowel disease	Enrichment	ADAM17, EGFR	2.35
119	Melanoma of soft tissue	Enrichment	ATF1, CREB1	2.35
120	Normosmic congenital hypogonadotropic hypogonadism	Enrichment	DUSP6, FGF17, FGF8, FGFR1	2.34
121	Long qt syndrome 1	Enrichment	CALM1, CALM2, CALM3, ITPR3, PTPN11	2.24
122	Primary bone dysplasia	Enrichment	COL1A1, COL1A2, FGFR3	2.23
123	Non-immune hydrops fetalis	Enrichment	FLT4, HRAS, KRAS, PTPN11, RIT1	2.18
124	Osteochondrodysplasia	Enrichment	COL1A1, COL1A2, FGFR3	2.11
125	Specific learning disability	Enrichment	MAPK1, PTPN11, RPS6KA3	2.11
126	Ehlers-danlos syndrome, arthrochalasia type, 1	Enrichment	COL1A1, COL1A2	2.06
127	Brain small vessel disease 1 with or without ocular anomalies	Enrichment	COL4A1, COL4A2	2.06
128	Erythrocytosis, familial, 1	Enrichment	JAK2, SH2B3	2.06
129	Diffuse gastric and lobular breast cancer syndrome	Enrichment	CTNNA1, KRAS	2.06
130	Alport syndrome 2, autosomal recessive	Enrichment	COL4A3, COL4A4	2.06
131	Granulomatous disease, chronic, x-linked	Enrichment	CYBB, NCF1	2.06
132	Chromosome 22q11.2 deletion syndrome, distal	Enrichment	CRKL, MAPK1	2.06
133	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Enrichment	AKT3, PIK3R2	2.06
134	Saethre-chotzen syndrome	Enrichment	FGFR2, FGFR3	2.06
135	Chronic myelogenous leukemia, bcr-abl1 positive	Enrichment	KRAS, NRAS	2.06
136	Craniopharyngioma	Enrichment	BRAF, CTNNB1	2.06
137	Noonan syndrome with multiple lentigines	Enrichment	BRAF, PTPN11	2.06
138	Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)	Enrichment	FLT3, KIT	2.06
139	Autosomal recessive alport syndrome	Enrichment	COL4A3, COL4A4	2.06
140	Osteogenesis imperfecta with normal sclerae, dominant form	Enrichment	COL1A1, COL1A2	2.06
141	Non-syndromic bicoronal craniosynostosis	Enrichment	FGFR3, TCF12	2.06
142	Glioma	Enrichment	FGFR2, NTRK3	2.06
143	Gingival fibromatosis	Enrichment	REST, SOS1	2.06
144	Pseudomyogenic hemangioendothelioma	Enrichment	ACTB, FOSB	2.06
145	Cutis laxa	Enrichment	ATP6V0A2, ATP6V1E1, COL5A1	1.99
146	Meningioma	Enrichment	AKT1, PDGFB, PIK3CA	1.99
147	Osteogenesis imperfecta, type iv	Enrichment	COL1A1, COL1A2, SPARC	1.89
148	Scoliosis	Enrichment	COL2A1, GFAP, GRIN2B, PTPN11	1.88
149	Hemifacial hyperplasia	Enrichment	FGFR2, FGFR3	1.85
150	Capillary malformations, congenital	Enrichment	PIK3CA, RASA1	1.85
151	Alzheimer disease 2	Enrichment	APOE, NOS3	1.85
152	Retinal detachment	Enrichment	COL2A1, COL9A3	1.85
153	Hypogonadotropic hypogonadism 1 with or without anosmia	Enrichment	ANOS1, POLR2F	1.85
154	Insulin-like growth factor i	Enrichment	IGF1, IGF1R	1.85
155	Pre-eclampsia	Enrichment	FLT1, NOS3	1.85
156	Acute myeloid leukemia with maturation	Enrichment	FLT3, KIT	1.85
157	Myeloproliferative neoplasm	Enrichment	CBL, JAK2	1.85
158	Holoprosencephaly	Enrichment	FGF8, FGFR1	1.85
159	Histiocytoid hemangioma	Enrichment	FOS, FOSB	1.85
160	Acute myeloid leukemia with t(8;21)(q22;q22) translocation	Enrichment	FLT3, KIT	1.85
161	Familial porencephaly	Enrichment	COL4A1, COL4A2	1.85
162	Familial cerebral saccular aneurysm	Enrichment	COL3A1, TGFBR3	1.85
163	Hypertelorism	Enrichment	COL11A1, COL1A1, FGFR2, PIK3CA, RIT1, RPS6KA3	1.81
164	Multiple sclerosis	Enrichment	ITPR1, LAMA5, LAMB1	1.80
165	Osteoporosis	Enrichment	COL1A1, COL1A2, SRC	1.80
166	Cerebral palsy	Enrichment	COL4A1, COL4A2, GRIN2B, KIDINS220, PDGFRB	1.76
167	Hydrops fetalis, nonimmune	Enrichment	FLT4, HRAS, PTPN11, RIT1	1.75
168	Wilms tumor 1	Enrichment	BRAF, IGF2, REST	1.72
169	Myopia	Enrichment	COL11A1, COL2A1, COL4A4	1.72
170	Epilepsy	Enrichment	DIAPH1, GABRA1, GABRB3, GRIN2B, WWOX	1.71
171	Klippel-trenaunay-weber syndrome	Enrichment	PIK3CA, RASA1	1.68
172	Osteogenesis imperfecta, type i	Enrichment	COL1A1, COL1A2	1.68
173	Cowden syndrome 1	Enrichment	EGFR, PIK3CA	1.68
174	Telangiectasia, hereditary hemorrhagic, type 1	Enrichment	PSEN1, RASA1	1.68
175	Holoprosencephaly 1	Enrichment	FGF8, FGFR1	1.68
176	Hemorrhage, intracerebral	Enrichment	COL4A1, COL4A2	1.68
177	Spinocerebellar ataxia, autosomal recessive 16	Enrichment	ITPR1, STUB1	1.68
178	Inflammatory myofibroblastic tumor	Enrichment	ALK, CLTC	1.68
179	Fetomaternal alloimmune thrombocytopenia 1	Enrichment	ITGA2, ITGB3	1.68
180	46,xy disorder of sex development	Enrichment	FGFR3, INSR	1.68
181	Autosomal recessive distal renal tubular acidosis	Enrichment	ATP6V0A4, ATP6V1B1	1.68
182	Cleft lip with or without cleft palate	Enrichment	CTNND1, ESRP2	1.68
183	Rhabdomyosarcoma	Enrichment	ALK, CBL, HRAS	1.64
184	Gliosarcoma	Enrichment	EGFR, FGFR1, FGFR3	1.64
185	Type 2 diabetes mellitus	Enrichment	AKT2, INSR, IRS1, IRS2, PTPN1	1.63
186	Hirschsprung disease 1	Enrichment	ERBB2, ERBB3, NRG3, POLR2F	1.59
187	Alzheimer disease, familial, 1	Enrichment	APOE, NOS3, PSEN1	1.57
188	Giant cell glioblastoma	Enrichment	EGFR, FGFR1, FGFR3	1.57
189	Primary ovarian insufficiency	Enrichment	JAK2, KDR, NOS3, NTRK1, RICTOR, THBS1	1.56
190	Osteogenesis imperfecta, type ii	Enrichment	COL1A1, COL1A2	1.55
191	Gastrointestinal stromal tumor	Enrichment	KIT, PDGFRA	1.55
192	Waardenburg syndrome, type 2e	Enrichment	KITLG, POLR2F	1.55
193	Leukemia, chronic myeloid	Enrichment	KRAS, NRAS	1.55
194	Renal cell carcinoma, papillary, 1	Enrichment	MET, MTOR	1.55
195	Neuropathy, hereditary sensory and autonomic, type v	Enrichment	NGF, NTRK1	1.55
196	Multiple enchondromatosis, maffucci type	Enrichment	COL2A1, HIF1A	1.55
197	Essential thrombocythemia	Enrichment	JAK2, SH2B3	1.55
198	Overgrowth syndrome	Enrichment	MTOR, PIK3R1	1.55
199	Early-onset autosomal dominant alzheimer disease	Enrichment	PSEN1, PSEN2	1.55
200	Heart, malformation of	Enrichment	COL11A2, COL2A1, MAPK1	1.50
201	Arteriovenous malformations of the brain	Enrichment	BRAF, EGFR, KRAS	1.44
202	Diffuse large b-cell lymphoma	Enrichment	BRAF, SOCS1, STAT3	1.44
203	Gastroesophageal reflux	Enrichment	COL5A1, RPS6KA3	1.43
204	Basal ganglia calcification, idiopathic, 1	Enrichment	PDGFB, PDGFRB	1.43
205	Orthostatic intolerance	Enrichment	COL5A1, RPS6KA3	1.43
206	Neuroblastoma	Enrichment	ALK, MYCN	1.43
207	Permanent neonatal diabetes mellitus	Enrichment	INS, STAT3	1.43
208	Stickler syndrome, type i	Enrichment	COL2A1	1.41
209	Anhidrosis, isolated, with normal sweat glands	Enrichment	ITPR2	1.41
210	Erythroleukemia, familial	Enrichment	ERBB3	1.41
211	Hypochondroplasia	Enrichment	FGFR3	1.41
212	Macrodactyly	Enrichment	PIK3CA	1.41
213	Proteus syndrome	Enrichment	AKT1	1.41
214	Beare-stevenson cutis gyrata syndrome	Enrichment	FGFR2	1.41
215	Paget disease, extramammary	Enrichment	ERBB2	1.41
216	Osteoglophonic dysplasia	Enrichment	FGFR1	1.41
217	Metachondromatosis	Enrichment	PTPN11	1.41
218	Cystic angiomatosis of bone, diffuse	Enrichment	RASA1	1.41
219	Deafness, congenital, with onychodystrophy, autosomal dominant	Enrichment	ATP6V1B2	1.41
220	Epiphyseal dysplasia, multiple, with myopia and conductive deafness	Enrichment	COL2A1	1.41
221	Thanatophoric dysplasia, type i	Enrichment	FGFR3	1.41
222	Trigonocephaly 1	Enrichment	FGFR1	1.41
223	Hypoinsulinemic hypoglycemia with hemihypertrophy	Enrichment	AKT2	1.41
224	Ehlers-danlos syndrome, cardiac valvular type	Enrichment	COL1A2	1.41
225	Donohue syndrome	Enrichment	INSR	1.41
226	Spondylometaphyseal dysplasia, algerian type	Enrichment	COL2A1	1.41
227	Granulomatous disease, chronic, autosomal recessive, 4	Enrichment	CYBA	1.41
228	Ramon syndrome	Enrichment	ELMO2	1.41
229	Baraitser-winter syndrome 1	Enrichment	ACTB	1.41
230	Hypothyroidism, congenital, nongoitrous, 9	Enrichment	IRS4	1.41
231	Sea-blue histiocyte disease	Enrichment	APOE	1.41
232	Coffin-lowry syndrome	Enrichment	RPS6KA3	1.41
233	Oculoectodermal syndrome	Enrichment	KRAS	1.41
234	Muenke syndrome	Enrichment	FGFR3	1.41
235	Intellectual developmental disorder, x-linked 30	Enrichment	PAK3	1.41
236	Premature aging syndrome, penttinen type	Enrichment	PDGFRB	1.41
237	Alport syndrome 1, x-linked	Enrichment	COL4A5	1.41
238	Hypocalciuric hypercalcemia, familial, type iii	Enrichment	AP2S1	1.41
239	Deafness, autosomal recessive 53	Enrichment	COL11A2	1.41
240	Hyperinsulinemic hypoglycemia, familial, 5	Enrichment	INSR	1.41
241	Immunodeficiency 34	Enrichment	CYBB	1.41
242	Osteoarthritis with mild chondrodysplasia	Enrichment	COL2A1	1.41
243	Deafness, autosomal recessive 26	Enrichment	GAB1	1.41
244	Legius syndrome	Enrichment	SPRED1	1.41
245	Arrhythmogenic right ventricular dysplasia, familial, 12	Enrichment	JUP	1.41
246	Avascular necrosis of femoral head, primary, 1	Enrichment	COL2A1	1.41
247	Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities	Enrichment	INSR	1.41
248	Immunodeficiency 61	Enrichment	SH3KBP1	1.41
249	Hypomagnesemia 4, renal	Enrichment	EGF	1.41
250	Czech dysplasia	Enrichment	COL2A1	1.41
251	Diabetes mellitus, insulin-resistant, with acanthosis nigricans	Enrichment	INSR	1.41
252	Noonan syndrome 4	Enrichment	SOS1	1.41
253	Lipodystrophy, congenital generalized, type 3	Enrichment	CAV1	1.41
254	Charcot-marie-tooth disease, demyelinating, type 1d	Enrichment	EGR2	1.41
255	Febrile seizures, familial, 8	Enrichment	GABRG2	1.41
256	Hypereosinophilic syndrome, idiopathic	Enrichment	PDGFRA	1.41
257	Macular dystrophy, patterned, 2	Enrichment	CTNNA1	1.41
258	Deafness, autosomal recessive 39	Enrichment	HGF	1.41
259	Mastocytosis, cutaneous	Enrichment	KIT	1.41
260	Scaphocephaly, maxillary retrusion, and impaired intellectual development	Enrichment	FGFR2	1.41
261	Marshall syndrome	Enrichment	COL11A1	1.41
262	Melorheostosis, isolated	Enrichment	MAP2K1	1.41
263	Megalencephaly, autosomal dominant	Enrichment	PIK3CA	1.41
264	Kniest dysplasia	Enrichment	COL2A1	1.41
265	Noonan syndrome 7	Enrichment	BRAF	1.41
266	Leopard syndrome 3	Enrichment	BRAF	1.41
267	Apert syndrome	Enrichment	FGFR2	1.41
268	Neuroblastoma 3	Enrichment	ALK	1.41
269	Cardiomyopathy, dilated, 1jj	Enrichment	LAMA4	1.41
270	Breasts and/or nipples, aplasia or hypoplasia of, 1	Enrichment	PTPRF	1.41
271	Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual development	Enrichment	YAP1	1.41
272	Basal ganglia calcification, idiopathic, 5	Enrichment	PDGFB	1.41
273	Acne inversa, familial, 1	Enrichment	NCSTN	1.41
274	Hyperpigmentation with or without hypopigmentation, familial progressive	Enrichment	KITLG	1.41
275	Epilepsy, idiopathic generalized 13	Enrichment	GABRA1	1.41
276	Leopard syndrome 1	Enrichment	PTPN11	1.41
277	Platyspondylic lethal skeletal dysplasia, torrance type	Enrichment	COL2A1	1.41
278	Lipoprotein glomerulopathy	Enrichment	APOE	1.41
279	Deafness, autosomal dominant 1, with or without thrombocytopenia	Enrichment	DIAPH1	1.41
280	Cowden syndrome 5	Enrichment	PIK3CA	1.41
281	Cardiofaciocutaneous syndrome 3	Enrichment	MAP2K1	1.41
282	Myofibromatosis, infantile, 1	Enrichment	PDGFRB	1.41
283	Fibrochondrogenesis 1	Enrichment	COL11A1	1.41
284	Melanosis, neurocutaneous	Enrichment	NRAS	1.41
285	Thanatophoric dysplasia, type ii	Enrichment	FGFR3	1.41
286	Charcot-marie-tooth disease, dominant intermediate b	Enrichment	DNM2	1.41
287	Spondyloepiphyseal dysplasia, stanescu type	Enrichment	COL2A1	1.41
288	Iga nephropathy 3	Enrichment	SPRY2	1.41
289	Lethal congenital contracture syndrome 2	Enrichment	ERBB3	1.41
290	Noonan syndrome 6	Enrichment	NRAS	1.41
291	Lissencephaly 5	Enrichment	LAMB1	1.41
292	Hypogonadotropic hypogonadism 20 with or without anosmia	Enrichment	FGF17	1.41
293	Cutis laxa, autosomal recessive, type iid	Enrichment	ATP6V1A	1.41
294	Ceroid lipofuscinosis, neuronal, 10	Enrichment	CTSD	1.41
295	Gist-plus syndrome	Enrichment	PDGFRA	1.41
296	Camptodactyly, tall stature, and hearing loss syndrome	Enrichment	FGFR3	1.41
297	Mirror movements 3	Enrichment	DNAL4	1.41
298	Developmental and epileptic encephalopathy 27	Enrichment	GRIN2B	1.41
299	Pulmonary hypertension, primary, 3	Enrichment	CAV1	1.41
300	Lissencephaly 7 with cerebellar hypoplasia	Enrichment	CDK5	1.41
301	Aplasia of lacrimal and salivary glands	Enrichment	FGF10	1.41
302	Autoimmune lymphoproliferative syndrome, type iii	Enrichment	PRKCD	1.41
303	Bent bone dysplasia syndrome 1	Enrichment	FGFR2	1.41
304	Wilms tumor 6	Enrichment	REST	1.41
305	Acrogeria, gottron type	Enrichment	COL3A1	1.41
306	Epiphyseal dysplasia, multiple, 6	Enrichment	COL9A1	1.41
307	Achondrogenesis, type ii	Enrichment	COL2A1	1.41
308	Hiatt-neu-cooper neurodevelopmental syndrome	Enrichment	RALA	1.41
309	Naxos disease	Enrichment	JUP	1.41
310	Angioedema, hereditary, 4	Enrichment	PLG	1.41
311	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3	Enrichment	HNRNPA1	1.41
312	Cerebral cavernous malformations 4	Enrichment	PIK3CA	1.41
313	Visceral neuropathy, familial, 2, autosomal recessive	Enrichment	ERBB2	1.41
314	Neurodevelopmental disorder with absent language and variable seizures	Enrichment	WASF1	1.41
315	Ventriculomegaly and arthrogryposis	Enrichment	KIDINS220	1.41
316	Noonan syndrome 13	Enrichment	MAPK1	1.41
317	Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant	Enrichment	STAT5B	1.41
318	Breasts and/or nipples, aplasia or hypoplasia of, 2	Enrichment	PTPRF	1.41
319	Nephrotic syndrome, type 26	Enrichment	LAMA5	1.41
320	Developmental and epileptic encephalopathy 58	Enrichment	NTRK2	1.41
321	Tumoral calcinosis, hyperphosphatemic, familial, 3	Enrichment	KL	1.41
322	Hyper-ige syndrome 6, autosomal dominant, with recurrent infections	Enrichment	STAT6	1.41
323	Developmental and epileptic encephalopathy 74	Enrichment	GABRG2	1.41
324	Charcot-marie-tooth disease, demyelinating, type 1j	Enrichment	ITPR3	1.41
325	Knobloch syndrome 2	Enrichment	PAK2	1.41
326	Epiphyseal dysplasia, multiple, 2	Enrichment	COL9A2	1.41
327	Ullrich congenital muscular dystrophy 1b	Enrichment	COL6A2	1.41
328	Short syndrome	Enrichment	PIK3R1	1.41
329	Intellectual developmental disorder with macrocephaly, seizures, and speech delay	Enrichment	PAK1	1.41
330	Combined osteogenesis imperfecta and ehlers-danlos syndrome 2	Enrichment	COL1A2	1.41
331	Progesterone resistance	Enrichment	PGR	1.41
332	Hereditary lymphedema id	Enrichment	VEGFC	1.41
333	Congenital smooth muscle hamartoma, with or without hemihypertrophy	Enrichment	ACTB	1.41
334	Immune dysregulation, autoimmunity, and autoinflammation	Enrichment	PLCG1	1.41
335	Vascular malformation, primary intraosseous	Enrichment	ELMO2	1.41
336	Osteofibrous dysplasia	Enrichment	MET	1.41
337	Spondyloperipheral dysplasia	Enrichment	COL2A1	1.41
338	Myosclerosis, autosomal recessive	Enrichment	COL6A2	1.41
339	Porencephaly	Enrichment	COL4A1	1.41
340	Ullrich congenital muscular dystrophy 1c	Enrichment	COL6A3	1.41
341	Deafness, autosomal dominant 37	Enrichment	COL11A1	1.41
342	Intellectual developmental disorder, x-linked 19	Enrichment	RPS6KA3	1.41
343	Myeloid and lymphoid neoplasms associated with pdgfra rearrangement	Enrichment	PDGFRA	1.41
344	Cardioacrofacial dysplasia 2	Enrichment	PRKACB	1.41
345	T-cell large granular lymphocyte leukemia	Enrichment	STAT3	1.41
346	Metacarpal 4-5 fusion	Enrichment	FGF16	1.41
347	Epiphyseal dysplasia, multiple, 3	Enrichment	COL9A3	1.41
348	Lymphatic malformation 4	Enrichment	VEGFC	1.41
349	Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language	Enrichment	MEF2C	1.41
350	Noonan syndrome 14	Enrichment	SPRED2	1.41
351	Cardiomyopathy, dilated, 1v	Enrichment	PSEN2	1.41
352	Lipodystrophy, familial partial, type 7	Enrichment	CAV1	1.41
353	Uveal coloboma-cleft lip and palate-intellectual disability	Enrichment	YAP1	1.41
354	Lacrimoauriculodentodigital syndrome 3	Enrichment	FGF10	1.41
355	Familial isolated trichomegaly	Enrichment	FGF5	1.41
356	Cardiofaciocutaneous syndrome 2	Enrichment	KRAS	1.41
357	Houge-janssens syndrome 2	Enrichment	PPP2R1A	1.41
358	Alzheimer disease 18	Enrichment	ADAM10	1.41
359	Deafness, autosomal dominant 13	Enrichment	COL11A2	1.41
360	Developmental and epileptic encephalopathy 19	Enrichment	GABRA1	1.41
361	Deafness, autosomal recessive 97	Enrichment	MET	1.41
362	Microvascular complications of diabetes 1	Enrichment	VEGFA	1.41
363	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	Enrichment	AKT3	1.41
364	Lymphangioma	Enrichment	BRAF	1.41
365	Skin/hair/eye pigmentation, variation in, 7	Enrichment	KITLG	1.41
366	Crouzon syndrome with acanthosis nigricans	Enrichment	FGFR3	1.41
367	Hemifacial myohyperplasia	Enrichment	PIK3CA	1.41
368	Coronary artery disease, autosomal dominant, 1	Enrichment	MEF2A	1.41
369	Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth	Enrichment	PIK3CA	1.41
370	Phace association	Enrichment	BRAF	1.41
371	Charcot-marie-tooth disease, axonal, type 2f	Enrichment	HSPB1	1.41
372	Becker nevus syndrome	Enrichment	ACTB	1.41
373	Myopathy, distal, 3	Enrichment	HNRNPA1	1.41
374	Autoimmune disease, multisystem, with facial dysmorphism	Enrichment	ITCH	1.41
375	Melorheostosis	Enrichment	MAP2K1	1.41
376	Dystonia-deafness syndrome 1	Enrichment	ACTB	1.41
377	Autism 9	Enrichment	MET	1.41
378	Stickler syndrome, type i, nonsyndromic ocular	Enrichment	COL2A1	1.41
379	Oculopharyngodistal myopathy 2	Enrichment	GIPC1	1.41
380	Deafness, autosomal dominant 27	Enrichment	REST	1.41
381	Cardiomyopathy, dilated, 1u	Enrichment	PSEN1	1.41
382	Multiple synostoses syndrome 3	Enrichment	FGF9	1.41
383	Stickler syndrome, type iv	Enrichment	COL9A1	1.41
384	Intellectual developmental disorder, autosomal dominant 6, with or without seizures	Enrichment	GRIN2B	1.41
385	Glaucoma 1, open angle, o	Enrichment	NTF4	1.41
386	Cortical malformations, occipital	Enrichment	LAMC3	1.41
387	Lethal congenital contracture syndrome 5	Enrichment	DNM2	1.41
388	Immunodeficiency 31a	Enrichment	STAT1	1.41
389	Basal ganglia calcification, idiopathic, 4	Enrichment	PDGFRB	1.41
390	Immunodeficiency 36 with lymphoproliferation	Enrichment	PIK3R1	1.41
391	Cardiofaciocutaneous syndrome 4	Enrichment	MAP2K2	1.41
392	Craniosynostosis 3	Enrichment	TCF12	1.41
393	Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies	Enrichment	RAP1B	1.41
394	Zimmermann-laband syndrome 2	Enrichment	ATP6V1B2	1.41
395	Long qt syndrome 16	Enrichment	CALM3	1.41
396	Cowden syndrome 6	Enrichment	AKT1	1.41
397	Amyotrophic lateral sclerosis 19	Enrichment	ERBB4	1.41
398	Nephrotic syndrome, type 6	Enrichment	PTPRO	1.41
399	Hypogonadotropic hypogonadism 19 with or without anosmia	Enrichment	DUSP6	1.41
400	Reticulate acropigmentation of kitamura	Enrichment	ADAM10	1.41
401	Nasopharyngeal carcinoma 3	Enrichment	MST1R	1.41
402	Fibrochondrogenesis 2	Enrichment	COL11A2	1.41
403	Amyotrophic lateral sclerosis 20	Enrichment	HNRNPA1	1.41
404	Pigmented nodular adrenocortical disease, primary, 4	Enrichment	PRKACA	1.41
405	Dystonia 27	Enrichment	COL6A3	1.41
406	Myeloid and lymphoid neoplasms associated with pdgfrb rearrangement	Enrichment	PDGFRB	1.41
407	Agammaglobulinemia 7, autosomal recessive	Enrichment	PIK3R1	1.41
408	Acute myeloid leukemia with minimal differentiation	Enrichment	FLT3	1.41
409	Epilepsy, childhood absence 5	Enrichment	GABRB3	1.41
410	Acne inversa, familial, 2, with or without dowling-degos disease	Enrichment	PSENEN	1.41
411	Immunodeficiency 31b	Enrichment	STAT1	1.41
412	Hypogonadotropic hypogonadism 6 with or without anosmia	Enrichment	FGF8	1.41
413	Obesity, hyperphagia, and developmental delay	Enrichment	NTRK2	1.41
414	Macular dystrophy, patterned, 3	Enrichment	MAPKAPK3	1.41
415	Acne inversa, familial, 3	Enrichment	PSEN1	1.41
416	Achondroplasia, severe, with developmental delay and acanthosis nigricans	Enrichment	FGFR3	1.41
417	Kosaki overgrowth syndrome	Enrichment	PDGFRB	1.41
418	Fibromatosis, gingival, 5	Enrichment	REST	1.41
419	Stickler syndrome, type v	Enrichment	COL9A2	1.41
420	Developmental and epileptic encephalopathy 92	Enrichment	GABRB2	1.41
421	Tumoral calcinosis, hyperphosphatemic, familial, 2	Enrichment	FGF23	1.41
422	Hartsfield syndrome	Enrichment	FGFR1	1.41
423	Congenital heart defects, multiple types, 7	Enrichment	FLT4	1.41
424	Renal hypodysplasia/aplasia 2	Enrichment	FGF20	1.41
425	Immunodeficiency 22	Enrichment	LCK	1.41
426	Autoimmune disease, multisystem, infantile-onset, 1	Enrichment	STAT3	1.41
427	Cardioacrofacial dysplasia 1	Enrichment	PRKACA	1.41
428	Thrombocytopenia 6	Enrichment	SRC	1.41
429	Seizures, cortical blindness, and microcephaly syndrome	Enrichment	DIAPH1	1.41
430	Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies	Enrichment	RHOA	1.41
431	Takenouchi-kosaki syndrome	Enrichment	CDC42	1.41
432	Developmental and epileptic encephalopathy 43	Enrichment	GABRB3	1.41
433	Developmental and epileptic encephalopathy 45	Enrichment	GABRB1	1.41
434	Cutis laxa, autosomal recessive, type iic	Enrichment	ATP6V1E1	1.41
435	Diaph1-related sensorineural hearing loss-thrombocytopenia syndrome	Enrichment	DIAPH1	1.41
436	Finnish upper limb-onset distal myopathy	Enrichment	HNRNPA1	1.41
437	Deafness, autosomal recessive 114	Enrichment	GRAP	1.41
438	Autoinflammatory disease, systemic, with vasculitis	Enrichment	LYN	1.41
439	Thrombocytopenia 8, with dysmorphic features and developmental delay	Enrichment	ACTB	1.41
440	Qualitative or quantitative defects of collagen 6	Enrichment	COL6A2	1.41
441	Neurodevelopmental disorder with language delay and seizures	Enrichment	TIAM1	1.41
442	Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression	Enrichment	TNK2	1.41
443	Ocular pterygium-digital keloid dysplasia syndrome	Enrichment	PDGFRB	1.41
444	Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies	Enrichment	RHOA	1.41
445	Chronic mast cell leukemia	Enrichment	KIT	1.41
446	Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia	Enrichment	TIA1	1.41
447	Bent bone dysplasia syndrome 2	Enrichment	LAMA5	1.41
448	Vitreoretinopathy with phalangeal epiphyseal dysplasia	Enrichment	COL2A1	1.41
449	Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia	Enrichment	DOCK3	1.41
450	Segmental progressive overgrowth syndrome with fibroadipose hyperplasia	Enrichment	PIK3CA	1.41
451	Tufted angioma of skin	Enrichment	KDR	1.41
452	Asphyxia neonatorum	Enrichment	COL1A1	1.41
453	Deafness, autosomal dominant 69	Enrichment	KITLG	1.41
454	Bethlem myopathy 1b	Enrichment	COL6A2	1.41
455	Primary intraosseous venous malformation	Enrichment	ELMO2	1.41
456	Developmental and epileptic encephalopathy 104	Enrichment	ATP6V0A1	1.41
457	T-b+ severe combined immunodeficiency due to jak3 deficiency	Enrichment	JAK3	1.41
458	Neurodevelopmental disorder with epilepsy and brain atrophy	Enrichment	ATP6V0A1	1.41
459	Adenoid ameloblastoma	Enrichment	CTNNB1	1.41
460	Arthrogryposis, distal, type 11	Enrichment	MET	1.41
461	Lacrimoauriculodentodigital syndrome 2	Enrichment	FGFR3	1.41
462	Long qt syndrome 15	Enrichment	CALM2	1.41
463	Baraitser-winter syndrome	Enrichment	ACTB	1.41
464	Immunodeficiency 125	Enrichment	FLT3LG	1.41
465	Col4a1-related disorders	Enrichment	COL4A1	1.41
466	Occipital pachygyria and polymicrogyria	Enrichment	LAMC3	1.41
467	Short-rib thoracic dysplasia 22 without polydactyly	Enrichment	FGF4	1.41
468	Autosomal recessive spastic paraplegia type 59	Enrichment	USP8	1.41
469	Symptomatic form of coffin-lowry syndrome in female carriers	Enrichment	RPS6KA3	1.41
470	Syndromic multisystem autoimmune disease due to itch deficiency	Enrichment	ITCH	1.41
471	Autosomal dominant charcot-marie-tooth disease type 2m	Enrichment	DNM2	1.41
472	Hypospadias	Enrichment	PIK3CA	1.41
473	Bethlem myopathy 1c	Enrichment	COL6A3	1.41
474	Retinal lattice degeneration	Enrichment	COL9A3	1.41
475	Capillary hemangioma	Enrichment	AKT3	1.41
476	Charcot-marie-tooth disease type 1d	Enrichment	EGR2	1.41
477	Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy	Enrichment	ITPR3	1.41
478	Autoimmune disease, multisystem, infantile-onset, 5	Enrichment	CD274	1.41
479	Epilepsy, early-onset, 3, with or without developmental delay	Enrichment	ATP6V0C	1.41
480	Chromosome 15q24 deletion syndrome	Enrichment	SIN3A	1.41
481	Thrombocytopenia 10	Enrichment	PTPRJ	1.41
482	Oocyte/zygote/embryo maturation arrest 21	Enrichment	CHEK1	1.41
483	Grin2b-related neurodevelopmental disorder	Enrichment	GRIN2B	1.41
484	Stat3-related early-onset multisystem autoimmune disease	Enrichment	STAT3	1.41
485	Relapsing-remitting multiple sclerosis	Enrichment	HNRNPA1	1.41
486	5q14.3 microdeletion syndrome	Enrichment	MEF2C	1.41
487	Isolated bone marrow mastocytosis	Enrichment	KIT	1.41
488	Congenital pulmonary airway malformation	Enrichment	KRAS	1.41
489	Autosomal dominant rhegmatogenous retinal detachment	Enrichment	COL2A1	1.41
490	Smoldering systemic mastocytosis	Enrichment	KIT	1.41
491	Rare venous malformation	Enrichment	PIK3CA	1.41
492	Fetomaternal alloimmune thrombocytopenia 3	Enrichment	ITGA2	1.41
493	Col4a1 or col4a2-related cerebral small vessel disease	Enrichment	COL4A1	1.41
494	Multiple epiphyseal dysplasia with myopia and deafness	Enrichment	COL2A1	1.41
495	Immune dysregulation, neurodevelopmental defects, and colitis	Enrichment	ITGAV	1.41
496	Alk-positive anaplastic large cell lymphoma	Enrichment	ALK	1.41
497	Vegetative pyoderma gangrenosum	Enrichment	PTPN6	1.41
498	Bullous pyoderma gangrenosum	Enrichment	PTPN6	1.41
499	Gorham's disease	Enrichment	RASA1	1.41
500	Acute encephalopathy with biphasic seizures and late reduced diffusion	Enrichment	ADORA2A	1.41
501	Diaphragmatic eventration	Enrichment	PIK3CA	1.41
502	Complete atrioventricular septal defect without ventricular hypoplasia	Enrichment	MEF2C	1.41
503	Hypochondrogenesis	Enrichment	COL2A1	1.41
504	Fgfr3-related chondrodysplasia	Enrichment	FGFR3	1.41
505	Congenital smooth muscle hamartoma	Enrichment	ACTB	1.41
506	X-linked alport syndrome	Enrichment	COL4A5	1.41
507	Pneumothorax	Enrichment	COL5A1	1.41
508	Pustular pyoderma gangrenosum	Enrichment	PTPN6	1.41
509	Nocarh syndrome	Enrichment	CDC42	1.41
510	Mastocytosis	Enrichment	KIT	1.41
511	Esophagus squamous cell carcinoma	Enrichment	WWOX	1.41
512	Pik3ca-related overgrowth spectrum	Enrichment	PIK3CA	1.41
513	Congenital primary lymphedema of gordon	Enrichment	VEGFC	1.41
514	Syringocystadenoma papilliferum	Enrichment	BRAF	1.41
515	Developmental malformations-deafness-dystonia syndrome	Enrichment	ACTB	1.41
516	Camptodactyly-tall stature-scoliosis-hearing loss syndrome	Enrichment	FGFR3	1.41
517	Autosomal dominant deafness - onychodystrophy syndrome	Enrichment	ATP6V1B2	1.41
518	Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome	Enrichment	COL11A1	1.41
519	Familial progressive hyperpigmentation	Enrichment	KITLG	1.41
520	Growth retardation-mild developmental delay-chronic hepatitis syndrome	Enrichment	SH2B3	1.41
521	Dysspondyloenchondromatosis	Enrichment	COL2A1	1.41
522	Cystic lymphangioma	Enrichment	COL11A2	1.41
523	Rare combined vascular malformation	Enrichment	PIK3CA	1.41
524	Ganglioglioma	Enrichment	BRAF	1.41
525	Hypogonadotropic hypogonadism 26 with or without anosmia	Enrichment	TCF12	1.41
526	Abdominal aortic aneurysm	Enrichment	COL3A1	1.41
527	Cavernous lymphangioma	Enrichment	PIK3CA	1.41
528	Pik3ca-related overgrowth syndrome	Enrichment	PIK3CA	1.41
529	Cutaneous mastocytoma	Enrichment	KIT	1.41
530	Nongerminomatous germ cell tumor	Enrichment	BRAF	1.41
531	Phace syndrome	Enrichment	BRAF	1.41
532	Typical urticaria pigmentosa	Enrichment	KIT	1.41
533	Lethal hydranencephaly-diaphragmatic hernia syndrome	Enrichment	PLAT	1.41
534	Phakomatosis pigmentokeratotica	Enrichment	HRAS	1.41
535	Mef2c-related disorder	Enrichment	MEF2C	1.41
536	Ppp2r1a-related neurodevelopmental disorder	Enrichment	PPP2R1A	1.41
537	Pash syndrome	Enrichment	NCSTN	1.41
538	Huntington's disease-like	Enrichment	PSEN2	1.41
539	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom	Enrichment	RAC1	1.41
540	Classic hairy cell leukemia	Enrichment	BRAF	1.41
541	Classic pyoderma gangrenosum	Enrichment	PTPN6	1.41
542	Nodular urticaria pigmentosa	Enrichment	KIT	1.41
543	Silver-russell syndrome due to maternal uniparental disomy of chromosome 7	Enrichment	GRB10	1.41
544	Type 2 collagen-related bone disorder	Enrichment	COL2A1	1.41
545	Hartsfield-bixler-demyer syndrome	Enrichment	FGFR1	1.41
546	Hemihyperplasia-multiple lipomatosis syndrome	Enrichment	PIK3CA	1.41
547	Alk-positive large b-cell lymphoma	Enrichment	ALK	1.41
548	Pseudoxanthomatous diffuse cutaneous mastocytosis	Enrichment	KIT	1.41
549	Lama5-related multisystemic syndrome	Enrichment	LAMA5	1.41
550	Telangiectasia macularis eruptiva perstans	Enrichment	KIT	1.41
551	Acute mast cell leukemia	Enrichment	KIT	1.41
552	Chronic lymphoproliferative disorder of natural killer cells	Enrichment	STAT3	1.41
553	Eccrine angiomatous hamartoma	Enrichment	PIK3CA	1.41
554	Autosomal dominant combined immunodeficiency due to erbin deficiency	Enrichment	ERBIN	1.41
555	Egf-related primary hypomagnesemia with intellectual disability	Enrichment	EGF	1.41
556	Non-syndromic unicoronal craniosynostosis	Enrichment	FGFR2	1.41
557	Familial progressive hyper- and hypopigmentation	Enrichment	KITLG	1.41
558	Plaque-form urticaria pigmentosa	Enrichment	KIT	1.41
559	Interstitial lung disease specific to childhood	Enrichment	FGF10	1.41
560	Macrodactyly of toe	Enrichment	PIK3CA	1.41
561	Serous carcinoma of the corpus uteri	Enrichment	ERBB2	1.41
562	Neurocutaneous melanocytosis	Enrichment	NRAS	1.41
563	Bullous diffuse cutaneous mastocytosis	Enrichment	KIT	1.41
564	Microcystic stromal tumor	Enrichment	CTNNB1	1.41
565	Temporomandibular joint anomaly	Enrichment	DOCK1	1.41
566	Polyvalvular heart disease syndrome	Enrichment	TAB2	1.41
567	Syndromic congenital sodium diarrhea	Enrichment	SPINT2	1.41
568	Laminin subunit alpha 2-related muscular dystrophy	Enrichment	LAMA2	1.41
569	Akt2-related familial partial lipodystrophy	Enrichment	AKT2	1.41
570	Malignant astrocytoma	Enrichment	PTPN11	1.41
571	Testis seminoma	Enrichment	KIT	1.41
572	Cardiomyopathy, familial hypertrophic, 4	Enrichment	BRAF, NCF1	1.34
573	Ellis-van creveld syndrome	Enrichment	PRKACA, PRKACB	1.34
574	Hypogonadotropic hypogonadism	Enrichment	ANOS1, FGFR1	1.34
575	Primary hyperaldosteronism	Enrichment	BRAF, USP8	1.34
576	Ventricular septal defect	Enrichment	BRAF, RPS6KA3	1.34
577	Cowden syndrome	Enrichment	AKT1, PIK3CA	1.34
578	Rare autosomal dominant non-syndromic sensorineural deafness type dfna	Enrichment	ACTG1, COL11A1, COL11A2, KITLG, REST	1.28
579	Hepatocellular carcinoma	Enrichment	CTNNB1, MET, PIK3CA	1.27
580	Skin disease	Enrichment	LAMB3, LAMC2, NCSTN	1.27
581	Complex neurodevelopmental disorder	Enrichment	ATP6V0A1, DLG4, DOCK3, GRIN2B, PAK3, PPP2CA, RALA, TIAM1, WASF1	1.26
582	Dravet syndrome	Enrichment	GABRA1, GABRG2	1.25
583	Migraine with or without aura 1	Enrichment	ESR1, TAB2	1.18
584	Myopathy	Enrichment	COL6A1, COL6A2, COL6A3, DNM2	1.15
585	Spinocerebellar ataxia 29	Enrichment	ITPR1	1.11
586	Ehlers-danlos syndrome, vascular type	Enrichment	COL3A1	1.11
587	Epiphyseal dysplasia, multiple, 1	Enrichment	COL1A1	1.11
588	Lymphatic malformation 1	Enrichment	FLT4	1.11
589	Amelogenesis imperfecta, type ia	Enrichment	LAMB3	1.11
590	Blepharocheilodontic syndrome 1	Enrichment	CTNND1	1.11
591	Burkitt lymphoma	Enrichment	MYC	1.11
592	Ehlers-danlos syndrome, hypermobility type	Enrichment	COL3A1	1.11
593	Myeloproliferative disorder, chronic, with eosinophilia	Enrichment	PDGFRB	1.11
594	Otodental dysplasia	Enrichment	FGF3	1.11
595	Scoliosis, isolated 1	Enrichment	MAPK7	1.11
596	Costello syndrome	Enrichment	HRAS	1.11
597	Insensitivity to pain, congenital, with anhidrosis	Enrichment	NTRK1	1.11
598	Alexander disease	Enrichment	GFAP	1.11
599	Granulomatous disease, chronic, autosomal recessive, 1	Enrichment	NCF1	1.11
600	Trichomegaly	Enrichment	FGF5	1.11
601	Pituitary adenoma 4, acth-secreting	Enrichment	USP8	1.11
602	Epidermolysis bullosa, junctional 2c, laryngoonychocutaneous	Enrichment	LAMA3	1.11
603	Bruck syndrome 1	Enrichment	COL1A2	1.11
604	Visceral neuropathy, familial, 1, autosomal recessive	Enrichment	ERBB3	1.11
605	Plasminogen deficiency, type i	Enrichment	PLG	1.11
606	Intracranial hypertension, idiopathic	Enrichment	FLT4	1.11
607	Renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss	Enrichment	ATP6V1B1	1.11
608	Growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive	Enrichment	STAT5B	1.11
609	Myasthenic syndrome, congenital, 5	Enrichment	LAMB2	1.11
610	Osteopathia striata with cranial sclerosis	Enrichment	CTNNB1	1.11
611	Pulmonary hypoplasia, primary	Enrichment	FGF10	1.11
612	Ovarian germ cell cancer	Enrichment	CBL	1.11
613	Cervical cancer	Enrichment	FGFR3	1.11
614	Vitamin d hydroxylation-deficient rickets, type 1b	Enrichment	PDE3B	1.11
615	Histiocytoma, angiomatoid fibrous	Enrichment	CREB1	1.11
616	Waardenburg syndrome, type 4c	Enrichment	POLR2F	1.11
617	Pick disease of brain	Enrichment	PSEN1	1.11
618	Piebald trait	Enrichment	KIT	1.11
619	Welander distal myopathy	Enrichment	TIA1	1.11
620	Spastic paraplegia, optic atrophy, and neuropathy	Enrichment	FLRT1	1.11
621	Hyperinsulinemic hypoglycemia, familial, 4	Enrichment	INSR	1.11
622	Aural atresia, congenital	Enrichment	FGFR2	1.11
623	Legg-calve-perthes disease	Enrichment	COL2A1	1.11
624	Ventricular tachycardia, catecholaminergic polymorphic, 4	Enrichment	CALM1	1.11
625	Deafness, autosomal dominant 20	Enrichment	ACTG1	1.11
626	Neuropathy, congenital hypomyelinating, 1, autosomal recessive	Enrichment	EGR2	1.11
627	Granulomatous disease, chronic, autosomal recessive, 3	Enrichment	NCF4	1.11
628	Deafness, congenital, with inner ear agenesis, microtia, and microdontia	Enrichment	FGF3	1.11
629	Lissencephaly 1	Enrichment	LAMB1	1.11
630	Neuronopathy, distal hereditary motor, autosomal dominant 3	Enrichment	HSPB1	1.11
631	Baraitser-winter syndrome 2	Enrichment	ACTG1	1.11
632	Developmental and epileptic encephalopathy 28	Enrichment	WWOX	1.11
633	Specific language impairment 5	Enrichment	COL4A4	1.11
634	Bleeding disorder, platelet-type, 19	Enrichment	PRKACG	1.11
635	Silver-russell syndrome 3	Enrichment	IGF2	1.11
636	Sifrim-hitz-weiss syndrome	Enrichment	CHD4	1.11
637	Angioma, tufted	Enrichment	KDR	1.11
638	Maturity-onset diabetes of the young, type 10	Enrichment	INS	1.11
639	Pierson syndrome	Enrichment	LAMB2	1.11
640	Thrombocythemia 3	Enrichment	JAK2	1.11
641	Spinocerebellar ataxia, autosomal recessive 12	Enrichment	WWOX	1.11
642	Hypogonadotropic hypogonadism 21 with or without anosmia	Enrichment	FLRT3	1.11
643	Long qt syndrome 14	Enrichment	CALM1	1.11
644	Houge-janssens syndrome 1	Enrichment	PPP2R5D	1.11
645	Immunodeficiency 31c	Enrichment	STAT1	1.11
646	Pain sensitivity quantitative trait locus 1	Enrichment	NTRK1	1.11
647	Antley-bixler syndrome without genital anomalies or disordered steroidogenesis	Enrichment	FGFR2	1.11
648	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1	Enrichment	COL4A2	1.11
649	Combined osteogenesis imperfecta and ehlers-danlos syndrome 1	Enrichment	COL1A1	1.11
650	Epidermolysis bullosa, junctional 3b, severe	Enrichment	LAMC2	1.11
651	Epidermolysis bullosa, junctional 3a, intermediate	Enrichment	LAMC2	1.11
652	Wrinkly skin syndrome	Enrichment	ATP6V0A2	1.11
653	Waardenburg syndrome, type 2f	Enrichment	KITLG	1.11
654	Stickler syndrome, type vi	Enrichment	COL9A3	1.11
655	Hyperproinsulinemia	Enrichment	INS	1.11
656	Fibromuscular dysplasia, multifocal	Enrichment	COL5A1	1.11
657	Blepharocheilodontic syndrome 2	Enrichment	CTNND1	1.11
658	Intellectual developmental disorder, autosomal dominant 48	Enrichment	RAC1	1.11
659	Developmental and epileptic encephalopathy 93	Enrichment	ATP6V1A	1.11
660	Deafness, autosomal recessive 109	Enrichment	ESRP1	1.11
661	Epidermolysis bullosa, junctional 2a, intermediate	Enrichment	LAMA3	1.11
662	Werner syndrome	Enrichment	PTPN11	1.11
663	Spinocerebellar ataxia 48	Enrichment	STUB1	1.11
664	Nephrotic syndrome, type 17	Enrichment	GGA3	1.11
665	Osteopetrosis, autosomal recessive 1	Enrichment	TCIRG1	1.11
666	Cebalid syndrome	Enrichment	MTOR	1.11
667	Menke-hennekam syndrome 2	Enrichment	EP300	1.11
668	Polymicrogyria with or without vascular-type ehlers-danlos syndrome	Enrichment	COL3A1	1.11
669	Hyperlipoproteinemia, type iii	Enrichment	APOE	1.11
670	Infantile myofibromatosis	Enrichment	PDGFRB	1.11
671	Nephrotic syndrome, type 5, with or without ocular abnormalities	Enrichment	LAMB2	1.11
672	Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome	Enrichment	ITGA3	1.11
673	Aortic dissection	Enrichment	COL3A1	1.11
674	Senior-loken syndrome 7	Enrichment	AKT3	1.11
675	Split hand-foot malformation	Enrichment	FGFR2	1.11
676	Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant	Enrichment	DNMT1	1.11
677	Osteogenesis imperfecta, type xvii	Enrichment	SPARC	1.11
678	Renal tubular acidosis	Enrichment	ATP6V1B1	1.11
679	Vulto-van silfhout-de vries syndrome	Enrichment	DLG4	1.11
680	Papillary renal cell carcinoma	Enrichment	MET	1.11
681	Congenital mesoblastic nephroma	Enrichment	NTRK3	1.11
682	Glomerulonephritis	Enrichment	COL4A4	1.11
683	Metaphyseal anadysplasia 2	Enrichment	MMP9	1.11
684	Hypobetalipoproteinemia, familial, 2	Enrichment	DOCK7	1.11
685	Witteveen-kolk syndrome	Enrichment	SIN3A	1.11
686	Fibrolamellar carcinoma	Enrichment	PRKACA	1.11
687	Peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease	Enrichment	POLR2F	1.11
688	Diabetes mellitus, permanent neonatal, 4	Enrichment	INS	1.11
689	Inflammatory skin and bowel disease, neonatal, 1	Enrichment	ADAM17	1.11
690	Steel syndrome	Enrichment	COL27A1	1.11
691	Congenital heart defects, multiple types, 2	Enrichment	TAB2	1.11
692	Hereditary angioedema	Enrichment	PLG	1.11
693	Intellectual developmental disorder, autosomal dominant 60, with seizures	Enrichment	AP2M1	1.11
694	Familial avascular necrosis of the femoral head	Enrichment	COL2A1	1.11
695	Megalencephaly-polydactyly syndrome	Enrichment	MYCN	1.11
696	Developmental and epileptic encephalopathy 23	Enrichment	DOCK7	1.11
697	Cervix carcinoma	Enrichment	FGFR3	1.11
698	Immune system disease	Enrichment	CDC42	1.11
699	Fibrosarcoma	Enrichment	NTRK3	1.11
700	Bardet-biedl syndrome 16	Enrichment	AKT3	1.11
701	Epidermolysis bullosa, junctional 2b, severe	Enrichment	LAMA3	1.11
702	Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects	Enrichment	HNRNPH1	1.11
703	Smith-kingsmore syndrome	Enrichment	MTOR	1.11
704	Hereditary lymphedema i	Enrichment	FLT4	1.11
705	Polycythemia	Enrichment	JAK2	1.11
706	Acute myeloid leukemia without maturation	Enrichment	FLT3	1.11
707	Houge-janssens syndrome 3	Enrichment	PPP2CA	1.11
708	Interfrontal craniofaciosynostosis	Enrichment	FGFR1	1.11
709	Juvenile nasopharyngeal angiofibroma	Enrichment	CTNNB1	1.11
710	Metaphyseal anadysplasia	Enrichment	MMP9	1.11
711	Childhood-onset epilepsy syndrome	Enrichment	ATP6V0C	1.11
712	Autosomal dominant nonsyndromic deafness	Enrichment	FGFR2	1.11
713	Chronic eosinophilic leukemia	Enrichment	PDGFRA	1.11
714	Growth delay due to insulin-like growth factor type 1 deficiency	Enrichment	IGF1	1.11
715	Hypereosinophilic syndrome	Enrichment	JAK2	1.11
716	Malignant germ cell tumor of ovary	Enrichment	CBL	1.11
717	Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome	Enrichment	TAB2	1.11
718	Dentinogenesis imperfecta	Enrichment	COL1A2	1.11
719	Teratoma	Enrichment	CTNNB1	1.11
720	B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality	Enrichment	PDGFRA	1.11
721	Familial retinoblastoma	Enrichment	MYCN	1.11
722	Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)	Enrichment	FLT3	1.11
723	B-lymphoblastic leukemia/lymphoma with t	Enrichment	KIT	1.11
724	Silver-russell syndrome due to an imprinting defect of 11p15	Enrichment	IGF2	1.11
725	Tafro syndrome	Enrichment	MAP2K2	1.11
726	Oculootodental syndrome	Enrichment	FGF3	1.11
727	X-linked diffuse leiomyomatosis-alport syndrome	Enrichment	COL4A5	1.11
728	Laron syndrome with immunodeficiency	Enrichment	STAT5B	1.11
729	Submucosal cleft palate	Enrichment	UBB	1.11
730	Cleft hard palate	Enrichment	UBB	1.11
731	Wooly hair nevus	Enrichment	HRAS	1.11
732	Silver-russell syndrome due to 11p15 microduplication	Enrichment	IGF2	1.11
733	Congenital long qt syndrome	Enrichment	ITPR3, PTPN11	1.11
734	Gastric cancer	Enrichment	ERBB2, FGFR2, KRAS, PIK3CA	1.06
735	Rare genetic deafness	Enrichment	ACTG1, ATP6V1B1, COL11A2, COL4A5, DIAPH1, POLR2F	1.05
736	Aortic valve disease 1	Enrichment	SOS1, TAB2	1.05
737	Acute promyelocytic leukemia	Enrichment	STAT3, STAT5B	1.05
738	Alzheimer's disease	Enrichment	APOE, PSEN1	1.05
739	Chronic kidney disease	Enrichment	COL4A4, COL4A5	1.05
740	West syndrome	Enrichment	DNM1, GRIN2B, NTRK2, WWOX	1.03
741	Familial thoracic aortic aneurysm and aortic dissection	Enrichment	COL1A1, COL3A1, COL5A1, COL5A2	1.03
742	Hereditary breast carcinoma	Enrichment	AKT1, ESR1, KRAS, PIK3CA	1.03
743	Hypogonadotropic hypogonadism 7 with or without anosmia	Enrichment	ANOS1, FGFR1	0.99
744	46,xy partial gonadal dysgenesis	Enrichment	SOS1, WWOX	0.99
745	Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency	Enrichment	JAK3	0.95
746	Desmoid disease, hereditary	Enrichment	CTNNB1	0.95
747	Achondroplasia	Enrichment	FGFR3	0.95
748	Mccune-albright syndrome	Enrichment	COL2A1	0.95
749	Type 1 diabetes mellitus 2	Enrichment	INS	0.95
750	Zimmermann-laband syndrome 1	Enrichment	ATP6V1B2	0.95
751	Pelvic organ prolapse	Enrichment	TAB2	0.95
752	Retinal arteries, tortuosity of	Enrichment	COL4A1	0.95
753	Hypogonadotropic hypogonadism 2 with or without anosmia	Enrichment	FGFR1	0.95
754	Larsen syndrome	Enrichment	FGFR3	0.95
755	Retinoblastoma	Enrichment	MYCN	0.95
756	Angioedema, hereditary, 1	Enrichment	PLG	0.95
757	Thyroid carcinoma, familial medullary	Enrichment	NTRK1	0.95
758	Ataxia-telangiectasia	Enrichment	BRAF	0.95
759	Waardenburg syndrome, type 2a	Enrichment	POLR2F	0.95
760	Spondyloepiphyseal dysplasia congenita	Enrichment	COL2A1	0.95
761	Choreoacanthocytosis	Enrichment	TCIRG1	0.95
762	Bleeding disorder, platelet-type, 16	Enrichment	ITGB3	0.95
763	Cutis laxa, autosomal recessive, type iia	Enrichment	ATP6V0A2	0.95
764	Thrombocythemia 1	Enrichment	SH2B3	0.95
765	Hypophosphatemic rickets, autosomal dominant	Enrichment	FGF23	0.95
766	Neutropenia, severe congenital, 1, autosomal dominant	Enrichment	TCIRG1	0.95
767	Megalocornea	Enrichment	COL11A1	0.95
768	Immune thrombocytopenia	Enrichment	SOCS1	0.95
769	Dysosteosclerosis	Enrichment	TCIRG1	0.95
770	Autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia	Enrichment	CYBA	0.95
771	Gillespie syndrome	Enrichment	ITPR1	0.95
772	Hypophosphatasia, infantile	Enrichment	COL11A2	0.95
773	Polycythemia vera	Enrichment	JAK2	0.95
774	Pompe disease, infantile-onset	Enrichment	PIK3CA	0.95
775	Uvula, bifid	Enrichment	UBB	0.95
776	Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies	Enrichment	SPINT2	0.95
777	Vitamin d hydroxylation-deficient rickets, type 1a	Enrichment	PDE3B	0.95
778	Severe combined immunodeficiency, x-linked	Enrichment	IL2RG	0.95
779	Heart defects, congenital, and other congenital anomalies	Enrichment	DLG4	0.95
780	Glomerulopathy with fibronectin deposits 2	Enrichment	FN1	0.95
781	Nuchal bleb, familial	Enrichment	SOS1	0.95
782	Myopathy, centronuclear, x-linked	Enrichment	DNM2	0.95
783	Combined immunodeficiency, x-linked	Enrichment	IL2RG	0.95
784	Cleft soft palate	Enrichment	UBB	0.95
785	Muscular dystrophy, congenital merosin-deficient, 1a	Enrichment	LAMA2	0.95
786	Epidermolysis bullosa, lethal acantholytic	Enrichment	JUP	0.95
787	Neurodevelopmental disorder with spastic diplegia and visual defects	Enrichment	CTNNB1	0.95
788	Estrogen resistance	Enrichment	ESR1	0.95
789	Caffey disease	Enrichment	COL1A1	0.95
790	Neutrophilic dermatosis, acute febrile	Enrichment	PTPN6	0.95
791	Brain small vessel disease 2	Enrichment	COL4A2	0.95
792	Chromosome 8p11 myeloproliferative syndrome	Enrichment	FGFR1	0.95
793	Neonatal nephrocutaneous inflammatory syndrome	Enrichment	EGFR	0.95
794	Immunodeficiency 14a with lymphoproliferation, autosomal dominant	Enrichment	PIK3R1	0.95
795	Neuropathy, hereditary sensory, type ie	Enrichment	DNMT1	0.95
796	Anus, imperforate	Enrichment	CTNNB1	0.95
797	Autoinflammatory syndrome, familial, with or without immunodeficiency	Enrichment	SOCS1	0.95
798	Microangiopathy and leukoencephalopathy, pontine, autosomal dominant	Enrichment	COL4A1	0.95
799	Exudative vitreoretinopathy 7	Enrichment	CTNNB1	0.95
800	Intellectual developmental disorder, autosomal dominant 56	Enrichment	CLTC	0.95
801	Pilarowski-bjornsson syndrome	Enrichment	COL4A3	0.95
802	Developmental and epileptic encephalopathy 31b	Enrichment	DNM1	0.95
803	Developmental and epileptic encephalopathy 65	Enrichment	CYFIP2	0.95
804	Alport syndrome 3b, autosomal recessive	Enrichment	COL4A3	0.95
805	Ehlers-danlos syndrome, classic-like, 3	Enrichment	THBS2	0.95
806	Tethered spinal cord syndrome	Enrichment	BRAF	0.95
807	Distal myopathy	Enrichment	HNRNPA1	0.95
808	Bacteremia 2	Enrichment	MAPKAPK3	0.95
809	Inclusion body myopathy with paget disease of bone and frontotemporal dementia	Enrichment	HNRNPA1	0.95
810	Intellectual developmental disorder, autosomal dominant 62	Enrichment	DLG4	0.95
811	Desmoid tumor	Enrichment	CTNNB1	0.95
812	Hyper ige syndrome	Enrichment	STAT3	0.95
813	Wieacker-wolff syndrome	Enrichment	RASA1	0.95
814	Osteopetrosis, autosomal recessive 6	Enrichment	TCIRG1	0.95
815	High-grade b-cell lymphoma double-hit/triple-hit	Enrichment	MYC	0.95
816	Poretti-boltshauser syndrome	Enrichment	LAMA1	0.95
817	Neurodevelopmental disorder with hypotonia and impaired expressive language and with or without seizures	Enrichment	DLG4	0.95
818	Hamartoma	Enrichment	FGFR3	0.95
819	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps	Enrichment	COL4A1	0.95
820	Immunodeficiency 14	Enrichment	PIK3R1	0.95
821	Migraine without aura	Enrichment	ESR1	0.95
822	Hematuria, benign familial, 2	Enrichment	COL4A3	0.95
823	Charcot-marie-tooth disease type 1	Enrichment	EGR2	0.95
824	Dlg4-related synaptopathy	Enrichment	DLG4	0.95
825	Butterfly-shaped pigment dystrophy	Enrichment	CTNNA1	0.95
826	Growth delay due to insulin-like growth factor i resistance	Enrichment	IGF1R	0.95
827	Bleeding disorder, platelet-type, 24	Enrichment	ITGB3	0.95
828	Autoimmune polyendocrine syndrome type 1	Enrichment	CYBA	0.95
829	Tricuspid valve insufficiency	Enrichment	PTPN11	0.95
830	Mixed phenotype acute leukemia with t	Enrichment	FLT3	0.95
831	Renal cell carcinoma	Enrichment	MET	0.95
832	Enchondromatosis	Enrichment	HIF1A	0.95
833	Multiple epiphyseal dysplasia	Enrichment	COL2A1	0.95
834	Testicular cancer	Enrichment	FGFR3	0.95
835	Keratoacanthoma	Enrichment	PIK3CA	0.95
836	Beckwith-wiedemann syndrome due to imprinting defect of 11p15	Enrichment	IGF2	0.95
837	Atp6v0a2-related cutis laxa	Enrichment	ATP6V0A2	0.95
838	Lama2-related muscular dystrophy	Enrichment	LAMA2	0.95
839	Renal cell carcinoma, nonpapillary	Enrichment	MET, MTOR	0.94
840	Polydactyly, postaxial, type a1	Enrichment	ATP6V1B1, EP300	0.94
841	Osteogenesis imperfecta, type iii	Enrichment	COL1A1, COL1A2	0.94
842	Hydrocephalus	Enrichment	FGFR2, PDGFRB	0.94
843	Anterior segment dysgenesis	Enrichment	COL4A1, ITPR1	0.94
844	Lynch syndrome	Enrichment	KRAS, PIK3CA	0.94
845	Rare genetic intellectual disability	Enrichment	EP300, MTOR	0.94
846	Sensorineural hearing loss	Enrichment	ATP6V0A4, COL11A2, COL9A1, HGF	0.93
847	Hypertension	Enrichment	COL4A4, COL4A5	0.89
848	Microform holoprosencephaly	Enrichment	FGF8, FGFR1	0.89
849	Lobar holoprosencephaly	Enrichment	FGF8, FGFR1	0.89
850	Dandy-walker syndrome	Enrichment	BRAF, PDGFRB	0.85
851	Genetic steroid-resistant nephrotic syndrome	Enrichment	COL4A3, LAMA5, PTPRO	0.83
852	Inherited cancer-predisposing syndrome	Enrichment	ALK, CTNNA1, EGFR, KIT, MET, PDGFRA, PTPN11, SH2B3	0.83
853	Mirror movements 1	Enrichment	DNAL4	0.83
854	Dowling-degos disease 1	Enrichment	ADAM10	0.83
855	Acyl-coa dehydrogenase, very long-chain, deficiency of	Enrichment	DLG4	0.83
856	Anemia, autoimmune hemolytic	Enrichment	SOCS1	0.83
857	Phenylketonuria	Enrichment	COL1A1	0.83
858	Schizencephaly	Enrichment	COL4A1	0.83
859	Thyroid cancer, nonmedullary, 1	Enrichment	BRAF	0.83
860	Astigmatism	Enrichment	GRIN2B	0.83
861	Macular degeneration, age-related, 1	Enrichment	APOE	0.83
862	Polyposis syndrome, hereditary mixed, 1	Enrichment	CTNNA1	0.83
863	Intellectual developmental disorder, x-linked, syndromic, bain type	Enrichment	HNRNPH1	0.83
864	Budd-chiari syndrome	Enrichment	JAK2	0.83
865	Neurofibromatosis-noonan syndrome	Enrichment	MAP2K2	0.83
866	Focal cortical dysplasia, type ii	Enrichment	MTOR	0.83
867	Pilomatrixoma	Enrichment	CTNNB1	0.83
868	Spinocerebellar ataxia 15	Enrichment	ITPR1	0.83
869	Cholangiocarcinoma	Enrichment	PTPN3	0.83
870	Barrett esophagus	Enrichment	ERBB2	0.83
871	Aminoacylase 1 deficiency	Enrichment	ACTB	0.83
872	Alazami syndrome	Enrichment	CTNNB1	0.83
873	Congenital generalized lipodystrophy	Enrichment	FOS	0.83
874	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities	Enrichment	POLR2A	0.83
875	Fetal akinesia deformation sequence 3	Enrichment	DOCK7	0.83
876	Arthrogryposis multiplex congenita 3, myogenic type	Enrichment	ESR1	0.83
877	Multiple synostoses syndrome	Enrichment	FGF9	0.83
878	Neonatal diabetes mellitus	Enrichment	INS	0.83
879	Dowling-degos disease	Enrichment	PSENEN	0.83
880	Autosomal dominant nocturnal frontal lobe epilepsy	Enrichment	GABRG2	0.83
881	Lung sarcomatoid carcinoma	Enrichment	KRAS	0.83
882	Malignant epithelioid hemangioendothelioma	Enrichment	YAP1	0.83
883	Chronic myelomonocytic leukemia	Enrichment	FLT3	0.83
884	Cerebrovascular disease	Enrichment	PIK3CA	0.83
885	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1	Enrichment	CLTC	0.83
886	Tuberculosis	Enrichment	MAPKAPK3	0.83
887	Pilocytic astrocytoma	Enrichment	KRAS	0.83
888	Newborn respiratory distress syndrome	Enrichment	BRAF	0.83
889	Epidermolytic nevus	Enrichment	HRAS	0.83
890	Familial cerebral cavernous malformations	Enrichment	PIK3CA	0.83
891	Adenosine deaminase deficiency	Enrichment	JAK3	0.83
892	Autosomal recessive osteopetrosis	Enrichment	TCIRG1	0.83
893	Knobloch syndrome	Enrichment	PAK2	0.83
894	Intellectual disability, x-linked, syndromic, bain type	Enrichment	HNRNPH1	0.83
895	Silver-russell syndrome due to a point mutation	Enrichment	IGF2	0.83
896	Pediatric systemic lupus erythematosus	Enrichment	SPP1	0.83
897	Systemic mastocytosis with associated hematologic neoplasm	Enrichment	KIT	0.83
898	Isolated focal cortical dysplasia type ii	Enrichment	MTOR	0.83
899	Haddad syndrome	Enrichment	ASCL1	0.83
900	Male infertility due to gonadal dysgenesis or sperm disorder	Enrichment	CHEK1	0.83
901	Beckwith-wiedemann syndrome	Enrichment	COL6A1, IGF2	0.81
902	Patent foramen ovale	Enrichment	PTPN11, TAB2	0.81
903	Semilobar holoprosencephaly	Enrichment	FGF8, FGFR1	0.81
904	Breast cancer	Enrichment	AKT1, ESR1, KRAS, PIK3CA, SHC1	0.77
905	Hypertrophic neuropathy of dejerine-sottas	Enrichment	EGR2	0.74
906	Enchondromatosis, multiple, ollier type	Enrichment	HIF1A	0.74
907	Feingold syndrome 1	Enrichment	MYCN	0.74
908	Neuronopathy, distal hereditary motor, autosomal dominant 2	Enrichment	HSPB1	0.74
909	Exudative vitreoretinopathy 1	Enrichment	CTNNB1	0.74
910	Martsolf syndrome 1	Enrichment	ANOS1	0.74
911	Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative	Enrichment	JAK3	0.74
912	Pseudovaginal perineoscrotal hypospadias	Enrichment	ANOS1	0.74
913	Knobloch syndrome 1	Enrichment	PAK2	0.74
914	Chondrosarcoma, extraskeletal myxoid	Enrichment	TCF12	0.74
915	Congenital disorder of glycosylation, type il	Enrichment	ATP6V0A2	0.74
916	Developmental and epileptic encephalopathy 31a	Enrichment	DNM1	0.74
917	Rubinstein-taybi syndrome 2	Enrichment	EP300	0.74
918	Cholangitis, primary sclerosing	Enrichment	MST1	0.74
919	Glanzmann thrombasthenia 2	Enrichment	ITGB3	0.74
920	Muscular dystrophy, limb-girdle, autosomal recessive 23	Enrichment	LAMA2	0.74
921	Lymphoma	Enrichment	PTPN11	0.74
922	Osteopetrosis	Enrichment	TCIRG1	0.74
923	Epidermolysis bullosa	Enrichment	LAMB3	0.74
924	Alg9-congenital disorder of glycosylation	Enrichment	ATP6V0A2	0.74
925	Autosomal dominant severe congenital neutropenia	Enrichment	TCIRG1	0.74
926	Dementia	Enrichment	PSEN1	0.74
927	Coloboma of choroid and retina	Enrichment	ACTG1	0.74
928	Aggressive systemic mastocytosis	Enrichment	CBL	0.74
929	Diffuse cutaneous systemic sclerosis	Enrichment	CAV1	0.74
930	Sleep disorder	Enrichment	GRIN2B	0.74
931	Focal segmental glomerulosclerosis	Enrichment	COL4A4, COL4A5	0.74
932	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	Enrichment	ERBB4, HNRNPA1, MEF2C, PSEN1	0.72
933	Endometrial cancer	Enrichment	FGFR2, PIK3CA	0.70
934	Hepatoblastoma	Enrichment	CTNNB1, FGFR3	0.70
935	Myocardial infarction	Enrichment	ESR1, ITGB3	0.67
936	Tooth agenesis	Enrichment	FGFR1, TGFA	0.67
937	Angelman syndrome	Enrichment	GABRG3	0.67
938	Developmental dysplasia of the hip 1	Enrichment	COL2A1	0.67
939	Myopathy, centronuclear, 1	Enrichment	DNM2	0.67
940	Kabuki syndrome 1	Enrichment	KIDINS220	0.67
941	Weyers acrofacial dysostosis	Enrichment	CTNNB1	0.67
942	Rubinstein-taybi syndrome 1	Enrichment	EP300	0.67
943	Split-hand/foot malformation 1	Enrichment	FGFR2	0.67
944	Wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndrome	Enrichment	BDNF	0.67
945	Moyamoya disease 1	Enrichment	DIAPH1	0.67
946	Metachromatic leukodystrophy	Enrichment	GFAP	0.67
947	Type 1 diabetes mellitus	Enrichment	INS	0.67
948	Epilepsy, childhood absence 1	Enrichment	GABRB3	0.67
949	Waardenburg syndrome, type 4a	Enrichment	POLR2F	0.67
950	Wilms tumor 5	Enrichment	BRAF	0.67
951	Pendred syndrome	Enrichment	DIAPH1	0.67
952	Anterior segment dysgenesis 5	Enrichment	COL4A1	0.67
953	Chromosome 16p13.3 deletion syndrome, proximal	Enrichment	EP300	0.67
954	Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy	Enrichment	CALM1	0.67
955	Basal cell carcinoma 1	Enrichment	RASA1	0.67
956	Inguinal hernia	Enrichment	COL5A1	0.67
957	Pain disorder	Enrichment	COL5A1	0.67
958	Lipid metabolism disorder	Enrichment	APOE	0.67
959	Patent ductus arteriosus	Enrichment	PTPN11	0.67
960	Adrenocortical carcinoma	Enrichment	CTNNB1	0.67
961	Chronic mucocutaneous candidiasis	Enrichment	STAT1	0.67
962	Limited scleroderma	Enrichment	CAV1	0.67
963	Waardenburg syndrome	Enrichment	POLR2F	0.67
964	Charcot-marie-tooth disease	Enrichment	DNM2, HSPB1, LAMA2	0.66
965	Brittle bone disorder	Enrichment	COL1A1, COL1A2	0.64
966	Precursor t-cell acute lymphoblastic leukemia	Enrichment	FLT3, MYC	0.64
967	Esophageal cancer	Enrichment	WWOX	0.61
968	Oculopharyngodistal myopathy 1	Enrichment	GIPC1	0.61
969	Waardenburg syndrome, type 1	Enrichment	POLR2F	0.61
970	Silver-russell syndrome 1	Enrichment	IGF2	0.61
971	Squamous cell carcinoma, head and neck	Enrichment	EGFR	0.61
972	Glanzmann thrombasthenia 1	Enrichment	ITGB3	0.61
973	Semantic dementia	Enrichment	PSEN1	0.61
974	Hereditary sensory and autonomic neuropathy type 1	Enrichment	DNMT1	0.61
975	Renal cell carcinoma with mit translocations	Enrichment	CLTC	0.61
976	Hereditary hemorrhagic telangiectasia	Enrichment	RASA1	0.61
977	Megacolon	Enrichment	AKT3	0.61
978	Oligoarticular juvenile idiopathic arthritis	Enrichment	PTPN2	0.61
979	Hypophosphatemic rickets	Enrichment	FGF23	0.61
980	Rheumatoid factor-negative juvenile idiopathic arthritis	Enrichment	PTPN2	0.61
981	B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)	Enrichment	FLT3	0.61
982	Tetralogy of fallot	Enrichment	FLT4, KDR	0.57
983	Arthrogryposis, distal, type 1a	Enrichment	MET	0.56
984	Glioma susceptibility 1	Enrichment	ERBB2	0.56
985	Spastic paraplegia 4, autosomal dominant	Enrichment	COL3A1	0.56
986	Lymphoma, non-hodgkin, familial	Enrichment	BRAF	0.56
987	Immunodeficiency 47	Enrichment	ATP6AP1	0.56
988	Exudative vitreoretinopathy	Enrichment	CTNNB1	0.56
989	Severe congenital neutropenia	Enrichment	TCIRG1	0.56
990	Congenital muscular dystrophy	Enrichment	LAMA2	0.56
991	Catecholaminergic polymorphic ventricular tachycardia 1	Enrichment	CALM1	0.56
992	Isolated split hand-split foot malformation	Enrichment	EPS15L1	0.56
993	Thrombocytopenia	Enrichment	ITGB3, PTPN11, SRC	0.54
994	Orofacial cleft 1	Enrichment	FGF10	0.52
995	Neurofibromatosis, type i	Enrichment	SPRED1	0.52
996	Charge syndrome	Enrichment	EP300	0.52
997	Leukemia, acute lymphoblastic 3	Enrichment	JAK2	0.52
998	Myoclonic-atonic epilepsy	Enrichment	AP2M1	0.52
999	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	Enrichment	RAC1	0.52
1000	Atypical chronic myeloid leukemia, bcr-abl1 negative	Enrichment	FLT3	0.52
1001	Congenital central hypoventilation syndrome	Enrichment	BDNF	0.52
1002	Progressive non-fluent aphasia	Enrichment	PSEN1	0.52
1003	Familial thoracic aortic aneurysm and dissection	Enrichment	COL3A1	0.52
1004	Behavioral variant of frontotemporal dementia	Enrichment	PSEN1	0.52
1005	Renal agenesis, bilateral	Enrichment	FGF20	0.52
1006	Autosomal dominant non-syndromic intellectual disability	Enrichment	CLTC, ERBB4, GRIN2B	0.51
1007	Severe covid-19	Enrichment	ITGAV, JAK3	0.50
1008	Cat eye syndrome	Enrichment	ACTG1	0.48
1009	Marfan syndrome	Enrichment	COL2A1	0.48
1010	Meier-gorlin syndrome 1	Enrichment	FGFR2	0.48
1011	Peters-plus syndrome	Enrichment	COL4A1	0.48
1012	Amelogenesis imperfecta, type ie	Enrichment	LAMB3	0.48
1013	Omenn syndrome	Enrichment	IL2RG	0.48
1014	Stroke, ischemic	Enrichment	NOS3	0.48
1015	Polymicrogyria	Enrichment	AKT3	0.48
1016	Nephrocalcinosis	Enrichment	ATP6V1B1	0.48
1017	Melanoma	Enrichment	BRAF	0.48
1018	Nephrolithiasis	Enrichment	ATP6V1B1	0.48
1019	Autosomal dominant macrothrombocytopenia	Enrichment	ITGB3	0.48
1020	Autosomal non-syndromic agammaglobulinemia	Enrichment	PIK3R1	0.48
1021	Long qt syndrome	Enrichment	CALM1, CALM2	0.46
1022	Familial isolated dilated cardiomyopathy	Enrichment	LAMA4, PSEN1, PSEN2	0.46
1023	Pectus excavatum	Enrichment	PTPN11	0.45
1024	Epilepsy, myoclonic juvenile	Enrichment	GABRA1	0.45
1025	Frontotemporal dementia 1	Enrichment	PSEN1	0.45
1026	Epilepsy, idiopathic generalized	Enrichment	GABRA1	0.45
1027	Meningioma, familial	Enrichment	PDGFB	0.45
1028	Leukemia, acute lymphoblastic	Enrichment	FLT3	0.45
1029	Combined immunodeficiency	Enrichment	IL2RG	0.45
1030	Combined t cell and b cell immunodeficiency	Enrichment	IL2RG	0.45
1031	Diabetes mellitus	Enrichment	INS	0.45
1032	Heritable pulmonary arterial hypertension	Enrichment	CAV1	0.45
1033	Combined t and b cell immunodeficiency	Enrichment	IL2RG	0.45
1034	Presynaptic congenital myasthenic syndromes	Enrichment	LAMA5	0.45
1035	Hereditary breast ovarian cancer syndrome	Enrichment	BCAR1, CTNNA1, KRAS	0.44
1036	Severe combined immunodeficiency	Enrichment	JAK3, LCK	0.43
1037	Male infertility with azoospermia or oligozoospermia due to single gene mutation	Enrichment	FGF8, KLB, PTPN11	0.42
1038	Epicanthus	Enrichment	PTPN11	0.42
1039	Septooptic dysplasia	Enrichment	FGFR1	0.42
1040	Renal hypodysplasia/aplasia 3	Enrichment	FGFR3	0.42
1041	Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant	Enrichment	JUP	0.42
1042	Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant	Enrichment	JUP	0.42
1043	Dilated cardiomyopathy	Enrichment	BRAF, JUP, LAMA2, TAB2	0.42
1044	Cakut	Enrichment	ACTG1, COL4A1	0.41
1045	Microphthalmia/coloboma 12	Enrichment	YAP1	0.39
1046	Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly	Enrichment	COL5A1	0.39
1047	Neural tube defects	Enrichment	ITGB1	0.39
1048	Pulmonary disease, chronic obstructive	Enrichment	PDE3B	0.39
1049	Clubfoot	Enrichment	COL5A1	0.39
1050	Chromosome 1p36 deletion syndrome	Enrichment	PRKCZ	0.39
1051	Amelogenesis imperfecta	Enrichment	LAMB3	0.39
1052	Stereotypic movement disorder	Enrichment	DNM1	0.39
1053	Protein-deficiency anemia	Enrichment	NRAS	0.39
1054	Non-syndromic x-linked intellectual disability	Enrichment	ATP6AP1, RPS6KA3	0.38
1055	Autism spectrum disorder	Enrichment	GRIN2B, MAP2K1, MEF2C, PTPN11, TCF12	0.37
1056	Medulloblastoma	Enrichment	CTNNB1	0.37
1057	Aortic aneurysm, familial thoracic 1	Enrichment	COL3A1	0.37
1058	Walker-warburg syndrome	Enrichment	COL4A1	0.37
1059	Heart disease	Enrichment	RIT1	0.37
1060	Generalized epilepsy with febrile seizures plus	Enrichment	GABRG2	0.37
1061	Cataract	Enrichment	COL5A1	0.37
1062	Cleft lip/palate	Enrichment	PDGFRA	0.37
1063	Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant	Enrichment	JUP	0.37
1064	Pituitary stalk interruption syndrome	Enrichment	DNMT1	0.37
1065	Isolated macular dystrophy	Enrichment	COL4A5	0.37
1066	Coloboma of macula	Enrichment	YAP1	0.35
1067	Corpus callosum, agenesis of	Enrichment	COL4A1	0.35
1068	Atypical hemolytic-uremic syndrome	Enrichment	COL4A5	0.35
1069	Familial hypercholesterolemia	Enrichment	APOE	0.35
1070	Neuronal ceroid lipofuscinosis	Enrichment	CTSD	0.35
1071	Isolated corpus callosum agenesis	Enrichment	COL4A1	0.35
1072	Septopreoptic holoprosencephaly	Enrichment	FGF8	0.35
1073	Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome	Enrichment	COL4A1	0.35
1074	Male infertility with spermatogenesis disorder	Enrichment	SPRED1	0.35
1075	Midline interhemispheric variant of holoprosencephaly	Enrichment	FGF8	0.35
1076	Systemic lupus erythematosus	Enrichment	SOCS1, SPP1	0.34
1077	Rare autosomal recessive non-syndromic sensorineural deafness type dfnb	Enrichment	COL11A2, GRAP, HGF, MET	0.33
1078	Creatine phosphokinase, elevated serum	Enrichment	LAMA2	0.33
1079	Wolff-parkinson-white syndrome	Enrichment	JUP	0.33
1080	Arrhythmogenic right ventricular cardiomyopathy	Enrichment	JUP	0.33
1081	Isolated elevated serum creatine phosphokinase levels	Enrichment	LAMA2	0.33
1082	Benign epilepsy with centrotemporal spikes	Enrichment	GABRG2, WWOX	0.32
1083	Hypertension, essential	Enrichment	NOS3	0.31
1084	Melanoma, cutaneous malignant 1	Enrichment	BRAF	0.31
1085	Cleft palate, isolated	Enrichment	COL11A1	0.31
1086	Sudden infant death syndrome	Enrichment	CALM2	0.31
1087	Polycystic liver disease	Enrichment	CTNNB1	0.31
1088	Autosomal dominant polycystic liver disease	Enrichment	CTNNB1	0.31
1089	Alobar holoprosencephaly	Enrichment	FGF8	0.31
1090	Nonsyndromic hearing loss	Enrichment	ACTG1, COL11A2	0.31
1091	Centralopathic epilepsy	Enrichment	GABRG2, WWOX	0.29
1092	Human immunodeficiency virus type 1	Enrichment	CXCL12	0.29
1093	Charcot-marie-tooth disease type 4	Enrichment	EGR2	0.29
1094	Polycystic kidney disease	Enrichment	COL4A4	0.29
1095	Esophageal atresia/tracheoesophageal fistula	Enrichment	POLR2B	0.27
1096	Parkinson's disease	Enrichment	TNK2	0.27
1097	Williams-beuren syndrome	Enrichment	NCF1	0.26
1098	Maturity-onset diabetes of the young	Enrichment	INS	0.26
1099	Lissencephaly	Enrichment	ACTG1	0.25
1100	Centronuclear myopathy	Enrichment	DNM2	0.25
1101	Congenital nervous system abnormality	Enrichment	CTNNB1, FGFR3, PSEN1, WWOX	0.22
1102	Nervous system disease	Enrichment	CTNNB1, FGFR3, PSEN1, WWOX	0.22
1103	Malaria	Enrichment	MAPKAPK3	0.22
1104	Ear malformation	Enrichment	COL11A2	0.21
1105	Muscular dystrophy	Enrichment	COL6A2	0.21
1106	Spastic ataxia	Enrichment	DNMT1, ITPR1	0.21
1107	Pancreatic cancer	Enrichment	KRAS	0.20
1108	Developmental and epileptic encephalopathy 1	Enrichment	WWOX	0.20
1109	Auditory neuropathy	Enrichment	DIAPH1	0.19
1110	Strabismus	Enrichment	PTPN11	0.18
1111	Prostate cancer	Enrichment	PIK3CA	0.16
1112	Stargardt disease 1	Enrichment	COL2A1	0.16
1113	Cystic fibrosis	Enrichment	PLG	0.14
1114	Peripheral nervous system disease	Enrichment	NGF	0.14
1115	Neuropathy	Enrichment	NGF	0.14
1116	Non-syndromic genetic deafness	Enrichment	ACTG1	0.12
1117	Autism	Enrichment	ATP6V0A1, COL11A1	0.11
1118	Hypertrophic cardiomyopathy	Enrichment	PTPN11	0.09
1119	Body mass index quantitative trait locus 11	Enrichment	BDNF	0.06
1120	Schizophrenia	Enrichment	GABRB2	0.04
1121	Hereditary retinal dystrophy	Enrichment	COL11A2, COL2A1, COL9A1, CTNNA1, LAMA1	0.00
1122	Fundus dystrophy	Enrichment	COL11A2, COL2A1, COL9A1, CTNNA1, LAMA1	0.00

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

Signaling by Receptor Tyrosine Kinases

Pathway Network for Signaling by Receptor Tyrosine Kinases

Member Pathways for Signaling by Receptor Tyrosine Kinases

Pathways in the Signaling by Receptor Tyrosine Kinases SuperPath

Associated Genes for Signaling by Receptor Tyrosine Kinases

Associated Disorders for Signaling by Receptor Tyrosine Kinases

Disorders associated with Signaling by Receptor Tyrosine Kinases SuperPath

STRING Interaction Network for Signaling by Receptor Tyrosine Kinases

Sources for Signaling by Receptor Tyrosine Kinases