CREB Pathway

Pathway network for the CREB Pathway SuperPath

Sources:

QIAGEN

Pathways in the CREB Pathway SuperPath

#	Name	Source	Genes
1	CREB Pathway	QIAGEN	ADCY1 ADCY2 ADCY3 AKT1 ANGPTL6 AREG ATF4 BDNF BMP1 BMP10 BMP2 BMP3 BMP4 BMP5 BMP6 BMP7 BMP8A BTC CACNA1A CACNA1B CACNA1C CACNA1D CACNA1E CACNA1F CACNA1G CACNA1H CACNA1I CACNA1S CACNA2D1 CACNA2D2 CACNA2D3 CACNA2D4 CACNB1 CACNB2 CACNB3 CACNB4 CACNG1 CACNG2 CACNG3 CACNG4 CACNG5 CACNG6 CACNG7 CACNG8 CALM1 CALM2 CALM3 CAMK2A CAMK2B CAMK2D CAMK2G CAMK4 CCN2 CLEC11A CLEC14A CREB1 CREB3 CREB3L4 CREBBP CRIPTO CXCL12 DRC4 EGF EGFR ELK1 EP300 FGF1 FGF10 FGF11 FGF12 FGF13 FGF14 FGF16 FGF17 FGF18 FGF19 FGF2 FGF20 FGF21 FGF22 FGF23 FGF4 FGF5 FGF6 FGF7 FGF8 FGFR1 FGFR2 FGFR3 FGFR4 FLT1 FLT4 GAS1 GAS2 GAS6 GDF10 GDF15 GDF2 GDF5 GDF6 GDF9 GFER GH1 GH2 GHRH GLG1 GMFG GNA11 GNA12 GNA13 GNA14 GNA15 GNAI1 GNAI2 GNAI3 GNAL GNAO1 GNAS GNAT1 GNAT2 GNAZ GNB1 GNB2 GNB3 GNB4 GNB5 GNG10 GNG11 GNG12 GNG13 GNG2 GNG3 GNG4 GNG5 GNG7 GNG8 GNGT1 GNGT2 GNRH1 GNRH2 GPC6 GPR119 GRB2 GRIA1 GRIA2 GRIA3 GRIA4 GRID2 GRIK1 GRIK2 GRIK3 GRM1 GRM2 GRM3 GRM4 GRM5 GRM6 GRM7 GRM8 GTF2B HBEGF HDGF HGF HRAS IGF1 IGF1R IGF2 IGF2-AS IGF2R IL2 IL2RA IL3 IL6 IL9 ITPR1 ITPR2 ITPR3 KDR KIT KITLG KLF10 LEFTY1 LEFTY2 LHB LTBP1 LTBP2 LTBP3 LTBP4 MAP2K1 MAP2K2 MAP2K3 MAP2K4 MAP2K5 MAP2K6 MAPK1 MAPK3 MDK MET NGF NGFR NRG1 NRG2 NRG3 NRP1 NRP2 NTF3 NTF4 NTRK1 NTRK2 NTRK3 NUDT6 OGFR OGN P2RY13 PDGFA PDGFB PDGFC PDGFD PDGFRA PDGFRB PENK PGF PIK3R1 PIK3R2 PIK3R3 PIK3R4 PIK3R5 PLCB1 PLCB2 PLCB3 PLCB4 PLCD1 PLCD3 PLCD4 PLCE1 PLCG1 PLCG2 PLCZ1 PLPP3 POLR2A POLR2B POLR2C PPBP PRKACA PRKACB PRKACG PRKAR1A PRKAR1B PRKAR2A PRKAR2B PRKCA PRKCB PRKCD PRKCE PRKCG PRKCH PRKCI PRKCQ PRKCZ PRKD1 PRKD3 PROK1 PSIP1 PTN RAF1 RPS6KA1 SEMA3A SEMA4B SEMA4G SEMA5A SOS1 SOS2 SPON1 TBP TBRG1 TGFA TGFB1 TGFB2 TGFB3 TGFBR1 TGFBR3 THPO TIMP1 TIMP2 TIMP3 TIMP4 TYMP UTS2 VEGFB VEGFC VEGFD (see all 291) (see less)
2	Intracellular Calcium Signaling	QIAGEN	ADCY1 ADCY2 ADCY3 ALK ANGPTL6 AREG ATF4 ATP2A1 ATP2A2 ATP2A3 ATP2B1 ATP2B2 ATP2B3 ATP2C1 AXL BDNF BMP1 BMP10 BMP2 BMP3 BMP4 BMP5 BMP6 BMP7 BMP8A BTC CACNA1A CACNA1B CACNA1C CACNA1D CACNA1E CACNA1F CACNA1G CACNA1H CACNA1S CACNA2D1 CACNA2D2 CACNA2D3 CACNA2D4 CACNB1 CACNB2 CACNB3 CACNB4 CACNG1 CACNG2 CACNG3 CACNG4 CACNG5 CACNG6 CACNG7 CACNG8 CALM1 CALM2 CALM3 CAMK4 CCN2 CD247 CD3E CHRNA1 CHRNA10 CHRNA2 CHRNA3 CHRNA4 CHRNA5 CHRNA6 CHRNA7 CHRNA9 CHRND CHRNE CHRNG CLEC11A CNGA1 CNGA3 CNGA4 CNGB1 CNGB3 CREB1 CREB3 CREB3L4 CREBBP CRIPTO CSF1R CXCL12 DDR1 DDR2 DRC4 EGF EGFR EP300 EPHA1 EPHA2 EPHA3 EPHA4 EPHA5 EPHA7 EPHA8 EPHB1 EPHB2 EPHB3 EPHB4 EPHB6 EPOR ERBB2 ERBB3 ERBB4 FGF1 FGF10 FGF11 FGF12 FGF13 FGF14 FGF16 FGF17 FGF18 FGF19 FGF2 FGF20 FGF21 FGF22 FGF23 FGF4 FGF5 FGF6 FGF7 FGF8 FGFR1 FGFR2 FGFR3 FGFR4 FLT1 FLT3 FLT4 GAS1 GAS2 GAS6 GDF10 GDF15 GDF2 GDF5 GDF6 GDF9 GFER GH1 GH2 GHRH GMFG GNA11 GNA14 GNA15 GNAI1 GNAI2 GNAI3 GNAL GNAO1 GNAS GNAT1 GNAT2 GNB1 GNB2 GNB3 GNB4 GNB5 GNG10 GNG11 GNG12 GNG13 GNG2 GNG3 GNG4 GNG5 GNG7 GNG8 GNGT1 GNGT2 GNRH1 GNRH2 GPC6 GPR119 GRIA1 GRIA2 GRIA3 GRIA4 GRID2 GRIK1 GRIK2 GRIK3 GRIN1 GRIN2A GRIN2B GRIN2C GRIN2D GRINA GUCY1A1 GUCY1A2 GUCY1B1 GUCY2C GUCY2D GUCY2EP GUCY2F HDAC1 HDAC10 HDAC11 HDAC2 HDAC3 HDAC5 HDAC6 HDAC7 HDAC8 HDAC9 HDGF HGF HRAS HTR1A HTR1B HTR1D HTR1E HTR1F HTR2A HTR2B HTR2C HTR3A HTR3B HTR3C HTR3D HTR3E HTR4 HTR5A HTR6 HTR7 IGF1 IGF1R IGF2 IGF2-AS IL2 IL3 IL6 IL9 INSR INSRR ITPR1 ITPR2 ITPR3 KDR KIT KITLG KLF10 KRAS LEFTY1 LEFTY2 LHB LIFR LMTK2 LMTK3 LTBP1 LTBP2 LTBP3 LTBP4 MDK MEF2A MEF2C MEF2D MERTK MET MRAS MST1R MUSK NFAT5 NFATC1 NFATC2 NFATC3 NFATC4 NGF NPR1 NPR2 NRAS NRG1 NRG2 NRG3 NTF3 NTF4 NTRK1 NTRK2 NTRK3 NUDT6 OGN P2RX1 P2RX2 P2RX3 P2RX4 P2RX5 P2RX6 P2RX7 P2RY13 PDGFA PDGFB PDGFC PDGFD PDGFRA PDGFRB PENK PGF PLCB1 PLCB2 PLCB3 PLCB4 PLCD1 PLCD3 PLCD4 PLCE1 PLCG1 PLCG2 PLPP3 PPBP PPP3CA PPP3CB PPP3CC PPP3R1 PPP3R2 PRKCA PRKCB PRKCD PRKCE PRKCG PRKCH PRKCI PRKCQ PRKCZ PRKD1 PRKD3 PROK1 PSIP1 PTK7 PTN QDPR ROR1 ROR2 ROS1 RRAS RRAS2 RYK RYR1 RYR2 RYR3 SEMA3A SEMA4B SEMA4G SEMA5A SLC8A1 SLC8A2 SLC8A3 SLC9A1 SLC9A2 SLC9A3 SLC9A4 SLC9A6 SPON1 SRC TBRG1 TEK TGFA TGFB1 TGFB2 TGFB3 THPO TIE1 TIMP1 TIMP2 TIMP3 TIMP4 TRPC1 TRPC2 TRPC3 TRPC4 TRPC5 TRPC6 TRPC7 TRPM1 TRPM2 TRPM3 TRPM4 TRPM5 TRPM6 TRPM7 TRPM8 TRPV1 TRPV2 TRPV3 TRPV4 TRPV5 TRPV6 TYMP TYRO3 UTS2 VEGFB VEGFC VEGFD (see all 396) (see less)
3	Activation of PKC through GPCR	QIAGEN	ADCY1 ADCY2 ADCY3 ADCY4 ADCY5 ADCY6 ADCY7 ADCY8 ADCY9 ANGPTL6 AREG ARHGEF1 ARHGEF10 ARHGEF11 ARHGEF12 ARHGEF2 ARHGEF3 ARHGEF4 ARHGEF5 ARHGEF6 ARHGEF7 ARHGEF9 ATF4 BDNF BMP1 BMP10 BMP2 BMP3 BMP4 BMP5 BMP6 BMP7 BMP8A BTC CCN2 CLEC11A CLEC14A CREB1 CREB3 CREB3L4 CRIPTO CXCL12 DIRAS3 DRC4 EGF EGFR ELK1 FGF1 FGF10 FGF11 FGF12 FGF13 FGF14 FGF16 FGF17 FGF18 FGF19 FGF2 FGF20 FGF21 FGF22 FGF23 FGF4 FGF5 FGF6 FGF7 FGF8 FGFR1 FGFR2 FGFR3 FGFR4 FLT1 FLT4 GAS1 GAS2 GAS6 GDF10 GDF15 GDF2 GDF5 GDF6 GDF9 GFER GH1 GH2 GHRH GLG1 GMFG GNA11 GNA12 GNA13 GNA14 GNA15 GNAI1 GNAI2 GNAI3 GNAL GNAO1 GNAS GNAT1 GNAT2 GNAZ GNB1 GNB2 GNB3 GNB4 GNB5 GNG10 GNG11 GNG12 GNG13 GNG2 GNG3 GNG4 GNG5 GNG7 GNG8 GNGT1 GNGT2 GNRH1 GNRH2 GPC6 HBEGF HDGF HGF IGF1 IGF1R IGF2 IGF2-AS IGF2R IL2 IL2RA IL3 IL6 IL9 ITPR1 ITPR2 ITPR3 KDR KIT KITLG KLF10 LEFTY1 LEFTY2 LHB LTBP1 LTBP2 LTBP3 LTBP4 MAP2K1 MAP2K2 MAPK1 MAPK3 MDK MET MYL9 NET1 NFKB1 NGF NGFR NRG1 NRG2 NRG3 NRP1 NRP2 NTF3 NTF4 NTRK1 NTRK2 NTRK3 NUDT6 OGFR OGN PDE1A PDE1B PDE1C PDE2A PDE3A PDE3B PDGFA PDGFB PDGFC PDGFD PDGFRA PDGFRB PENK PGF PIK3R1 PIK3R2 PIK3R3 PIK3R4 PIK3R5 PLCB1 PLCB2 PLCB3 PLCB4 PLCD1 PLCD3 PLCD4 PLCE1 PLCG1 PLCG2 PLCZ1 PLPP3 PPBP PPP1CB PPP1R12A PPP1R12B PPP1R14A PRKCA PRKCB PRKCD PRKCE PRKCG PRKCH PRKCI PRKCQ PRKCZ PRKD1 PRKD3 PROK1 PSIP1 PTN RAC1 RAC2 RAC3 RACK1 RAF1 RAP1A RAP1B RHOA RHOB RHOC RHOD RHOG RHOH RLN1 RLN2 RLN3 RND2 RND3 RPS6KA1 RXFP1 RXFP2 SEMA3A SEMA4B SEMA4G SEMA5A SPON1 SRC TBRG1 TGFA TGFB1 TGFB2 TGFB3 TGFBR1 TGFBR3 TGM2 THPO TIMP1 TIMP2 TIMP3 TIMP4 TYMP UTS2 VEGFB VEGFC VEGFD (see all 268) (see less)
4	IP3 Pathway	QIAGEN	ANGPTL6 AREG ATF4 ATP2C1 BDNF BMP1 BMP10 BMP2 BMP3 BMP4 BMP5 BMP6 BMP7 BMP8A BTC BTK CACNA1A CACNA1B CACNA1C CACNA1D CACNA1E CACNA1F CACNA1G CACNA1H CACNA1I CACNA1S CACNA2D1 CACNA2D2 CACNA2D3 CACNA2D4 CACNB1 CACNB2 CACNB3 CACNB4 CACNG1 CACNG2 CACNG3 CACNG4 CACNG5 CACNG6 CACNG7 CACNG8 CALM1 CALM2 CALM3 CAMK2A CAMK2B CAMK2D CAMK2G CAMK4 CAMKK1 CAMKK2 CCN2 CD19 CD247 CD3D CD3E CD3G CD79A CD79B CLEC11A CREB1 CREB3 CREB3L4 CREBBP CRIPTO CXCL12 DRC4 EGF EGFR EP300 FGF1 FGF10 FGF11 FGF12 FGF13 FGF14 FGF16 FGF17 FGF18 FGF19 FGF2 FGF20 FGF21 FGF22 FGF23 FGF4 FGF5 FGF6 FGF7 FGF8 FGFR1 FGFR2 FGFR3 FGFR4 FLT1 FLT4 FYB1 FYN GAS1 GAS2 GAS6 GDF10 GDF15 GDF2 GDF5 GDF6 GDF9 GFER GH1 GH2 GHRH GMFG GNA11 GNA12 GNA13 GNA14 GNA15 GNAI1 GNAI2 GNAI3 GNAL GNAO1 GNAS GNAT1 GNAT2 GNAZ GNB1 GNB2 GNB3 GNB4 GNB5 GNG10 GNG11 GNG12 GNG13 GNG2 GNG3 GNG4 GNG5 GNG7 GNG8 GNGT1 GNGT2 GNRH1 GNRH2 GPC6 GRAP2 GRB2 HDAC9 HDGF HGF HRAS IGF1 IGF2 IGF2-AS IL2 IL3 IL6 IL9 ITK ITPR1 ITPR2 ITPR3 KDR KITLG KLF10 LAT LCP2 LEFTY1 LEFTY2 LHB LTBP1 LTBP2 LTBP3 LTBP4 MDK MEF2A MEF2C MEF2D MET NFATC2 NGF NGFR NRG1 NRG2 NRG3 NTF3 NTF4 NUDT6 OGFR OGN PDGFA PDGFB PDGFC PDGFD PENK PGF PIK3R1 PIK3R2 PIK3R3 PIK3R4 PIK3R5 PLCB1 PLCB2 PLCB3 PLCB4 PLCD1 PLCD3 PLCD4 PLCE1 PLCG1 PLCG2 PLCZ1 PLPP3 PPBP PPP3CA PPP3CB PPP3CC PPP3R1 PPP3R2 PROK1 PSIP1 PTEN PTN SEMA3A SEMA4B SEMA4G SEMA5A SOS1 SOS2 SPON1 SYK TBRG1 TGFA TGFB1 TGFB2 TGFB3 THPO TIMP1 TIMP2 TIMP3 TIMP4 TYMP UTS2 VAV1 VAV2 VAV3 VEGFB VEGFC VEGFD ZAP70 (see all 252) (see less)

Gene overlap in member pathways for CREB Pathway SuperPath

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

#	Symbol	Description	Category	# Related Pathways
1	ANGPTL6	Angiopoietin Like 6	Protein Coding	4
2	AREG	Amphiregulin	Protein Coding	4
3	ATF4	Activating Transcription Factor 4	Protein Coding	4
4	BDNF	Brain Derived Neurotrophic Factor	Protein Coding	4
5	BMP1	Bone Morphogenetic Protein 1	Protein Coding	4
6	BMP10	Bone Morphogenetic Protein 10	Protein Coding	4
7	BMP2	Bone Morphogenetic Protein 2	Protein Coding	4
8	BMP3	Bone Morphogenetic Protein 3	Protein Coding	4
9	BMP4	Bone Morphogenetic Protein 4	Protein Coding	4
10	BMP5	Bone Morphogenetic Protein 5	Protein Coding	4
11	BMP6	Bone Morphogenetic Protein 6	Protein Coding	4
12	BMP7	Bone Morphogenetic Protein 7	Protein Coding	4
13	BMP8A	Bone Morphogenetic Protein 8a	Protein Coding	4
14	BTC	Betacellulin	Protein Coding	4
15	CREB1	CAMP Responsive Element Binding Protein 1	Protein Coding	4
16	CREB3	CAMP Responsive Element Binding Protein 3	Protein Coding	4
17	CREB3L4	CAMP Responsive Element Binding Protein 3 Like 4	Protein Coding	4
18	CCN2	Cellular Communication Network Factor 2	Protein Coding	4
19	CXCL12	C-X-C Motif Chemokine Ligand 12	Protein Coding	4
20	LEFTY2	Left-Right Determination Factor 2	Protein Coding	4
21	TYMP	Thymidine Phosphorylase	Protein Coding	4
22	EGF	Epidermal Growth Factor	Protein Coding	4
23	EGFR	Epidermal Growth Factor Receptor	Protein Coding	4
24	FGF1	Fibroblast Growth Factor 1	Protein Coding	4
25	FGF10	Fibroblast Growth Factor 10	Protein Coding	4
26	FGF11	Fibroblast Growth Factor 11	Protein Coding	4
27	FGF12	Fibroblast Growth Factor 12	Protein Coding	4
28	FGF13	Fibroblast Growth Factor 13	Protein Coding	4
29	FGF14	Fibroblast Growth Factor 14	Protein Coding	4
30	FGF16	Fibroblast Growth Factor 16	Protein Coding	4
31	FGF17	Fibroblast Growth Factor 17	Protein Coding	4
32	FGF18	Fibroblast Growth Factor 18	Protein Coding	4
33	FGF19	Fibroblast Growth Factor 19	Protein Coding	4
34	FGF2	Fibroblast Growth Factor 2	Protein Coding	4
35	FGF20	Fibroblast Growth Factor 20	Protein Coding	4
36	FGF21	Fibroblast Growth Factor 21	Protein Coding	4
37	FGF22	Fibroblast Growth Factor 22	Protein Coding	4
38	FGF23	Fibroblast Growth Factor 23	Protein Coding	4
39	FGF4	Fibroblast Growth Factor 4	Protein Coding	4
40	FGF5	Fibroblast Growth Factor 5	Protein Coding	4
41	FGF6	Fibroblast Growth Factor 6	Protein Coding	4
42	FGF7	Fibroblast Growth Factor 7	Protein Coding	4
43	FGF8	Fibroblast Growth Factor 8	Protein Coding	4
44	FGFR1	Fibroblast Growth Factor Receptor 1	Protein Coding	4
45	FGFR2	Fibroblast Growth Factor Receptor 2	Protein Coding	4
46	FGFR3	Fibroblast Growth Factor Receptor 3	Protein Coding	4
47	FGFR4	Fibroblast Growth Factor Receptor 4	Protein Coding	4
48	VEGFD	Vascular Endothelial Growth Factor D	Protein Coding	4
49	FLT1	Fms Related Receptor Tyrosine Kinase 1	Protein Coding	4
50	FLT4	Fms Related Receptor Tyrosine Kinase 4	Protein Coding	4
51	GAS1	Growth Arrest Specific 1	Protein Coding	4
52	GAS2	Growth Arrest Specific 2	Protein Coding	4
53	GAS6	Growth Arrest Specific 6	Protein Coding	4
54	DRC4	Dynein Regulatory Complex Subunit 4	Protein Coding	4
55	GDF10	Growth Differentiation Factor 10	Protein Coding	4
56	GDF2	Growth Differentiation Factor 2	Protein Coding	4
57	GDF5	Growth Differentiation Factor 5	Protein Coding	4
58	GDF6	Growth Differentiation Factor 6	Protein Coding	4
59	GDF9	Growth Differentiation Factor 9	Protein Coding	4
60	GFER	Growth Factor, Augmenter Of Liver Regeneration	Protein Coding	4
61	GH1	Growth Hormone 1	Protein Coding	4
62	GH2	Growth Hormone 2	Protein Coding	4
63	GHRH	Growth Hormone Releasing Hormone	Protein Coding	4
64	GMFG	Glia Maturation Factor Gamma	Protein Coding	4
65	GNA11	G Protein Subunit Alpha 11	Protein Coding	4
66	GNA14	G Protein Subunit Alpha 14	Protein Coding	4
67	GNA15	G Protein Subunit Alpha 15	Protein Coding	4
68	GNAI1	G Protein Subunit Alpha I1	Protein Coding	4
69	GNAI2	G Protein Subunit Alpha I2	Protein Coding	4
70	GNAI3	G Protein Subunit Alpha I3	Protein Coding	4
71	GNAL	G Protein Subunit Alpha L	Protein Coding	4
72	GNAO1	G Protein Subunit Alpha O1	Protein Coding	4
73	GNAS	GNAS Complex Locus	Protein Coding	4
74	GNAT1	G Protein Subunit Alpha Transducin 1	Protein Coding	4
75	GNAT2	G Protein Subunit Alpha Transducin 2	Protein Coding	4
76	GNB1	G Protein Subunit Beta 1	Protein Coding	4
77	GNB2	G Protein Subunit Beta 2	Protein Coding	4
78	GNB3	G Protein Subunit Beta 3	Protein Coding	4
79	GNB4	G Protein Subunit Beta 4	Protein Coding	4
80	GNB5	G Protein Subunit Beta 5	Protein Coding	4
81	GNG10	G Protein Subunit Gamma 10	Protein Coding	4
82	GNG11	G Protein Subunit Gamma 11	Protein Coding	4
83	GNG12	G Protein Subunit Gamma 12	Protein Coding	4
84	GNG13	G Protein Subunit Gamma 13	Protein Coding	4
85	GNG2	G Protein Subunit Gamma 2	Protein Coding	4
86	GNG3	G Protein Subunit Gamma 3	Protein Coding	4
87	GNG4	G Protein Subunit Gamma 4	Protein Coding	4
88	GNG5	G Protein Subunit Gamma 5	Protein Coding	4
89	GNG7	G Protein Subunit Gamma 7	Protein Coding	4
90	GNG8	G Protein Subunit Gamma 8	Protein Coding	4
91	GNGT1	G Protein Subunit Gamma Transducin 1	Protein Coding	4
92	GNGT2	G Protein Subunit Gamma Transducin 2	Protein Coding	4
93	GNRH1	Gonadotropin Releasing Hormone 1	Protein Coding	4
94	GNRH2	Gonadotropin Releasing Hormone 2	Protein Coding	4
95	GPC6	Glypican 6	Protein Coding	4
96	HDGF	Heparin Binding Growth Factor	Protein Coding	4
97	HGF	Hepatocyte Growth Factor	Protein Coding	4
98	IGF1	Insulin Like Growth Factor 1	Protein Coding	4
99	IGF2	Insulin Like Growth Factor 2	Protein Coding	4
100	IGF2-AS	IGF2 Antisense RNA	RNA Gene	4
101	IL2	Interleukin 2	Protein Coding	4
102	IL3	Interleukin 3	Protein Coding	4
103	IL6	Interleukin 6	Protein Coding	4
104	IL9	Interleukin 9	Protein Coding	4
105	ITPR1	Inositol 1,4,5-Trisphosphate Receptor Type 1	Protein Coding	4
106	ITPR2	Inositol 1,4,5-Trisphosphate Receptor Type 2	Protein Coding	4
107	ITPR3	Inositol 1,4,5-Trisphosphate Receptor Type 3	Protein Coding	4
108	KDR	Kinase Insert Domain Receptor	Protein Coding	4
109	KITLG	KIT Ligand	Protein Coding	4
110	LEFTY1	Left-Right Determination Factor 1	Protein Coding	4
111	LHB	Luteinizing Hormone Subunit Beta	Protein Coding	4
112	LTBP1	Latent Transforming Growth Factor Beta Binding Protein 1	Protein Coding	4
113	LTBP2	Latent Transforming Growth Factor Beta Binding Protein 2	Protein Coding	4
114	LTBP3	Latent Transforming Growth Factor Beta Binding Protein 3	Protein Coding	4
115	LTBP4	Latent Transforming Growth Factor Beta Binding Protein 4	Protein Coding	4
116	MDK	Midkine	Protein Coding	4
117	MET	MET Proto-Oncogene, Receptor Tyrosine Kinase	Protein Coding	4
118	NGF	Nerve Growth Factor	Protein Coding	4
119	NRG1	Neuregulin 1	Protein Coding	4
120	NRG2	Neuregulin 2	Protein Coding	4
121	NRG3	Neuregulin 3	Protein Coding	4
122	NTF3	Neurotrophin 3	Protein Coding	4
123	NTF4	Neurotrophin 4	Protein Coding	4
124	NUDT6	Nudix Hydrolase 6	Protein Coding	4
125	OGN	Osteoglycin	Protein Coding	4
126	PDGFA	Platelet Derived Growth Factor Subunit A	Protein Coding	4
127	PDGFB	Platelet Derived Growth Factor Subunit B	Protein Coding	4
128	PDGFC	Platelet Derived Growth Factor C	Protein Coding	4
129	PENK	Proenkephalin	Protein Coding	4
130	PGF	Placental Growth Factor	Protein Coding	4
131	GDF15	Growth Differentiation Factor 15	Protein Coding	4
132	PLCB1	Phospholipase C Beta 1	Protein Coding	4
133	PLCB2	Phospholipase C Beta 2	Protein Coding	4
134	PLCB3	Phospholipase C Beta 3	Protein Coding	4
135	PLCB4	Phospholipase C Beta 4	Protein Coding	4
136	PLCD1	Phospholipase C Delta 1	Protein Coding	4
137	PLCD3	Phospholipase C Delta 3	Protein Coding	4
138	PLCD4	Phospholipase C Delta 4	Protein Coding	4
139	PLCE1	Phospholipase C Epsilon 1	Protein Coding	4
140	PLCG1	Phospholipase C Gamma 1	Protein Coding	4
141	PLCG2	Phospholipase C Gamma 2	Protein Coding	4
142	PLPP3	Phospholipid Phosphatase 3	Protein Coding	4
143	PPBP	Pro-Platelet Basic Protein	Protein Coding	4
144	PROK1	Prokineticin 1	Protein Coding	4
145	PSIP1	PC4 And SRSF1 Interacting Protein 1	Protein Coding	4
146	PTN	Pleiotrophin	Protein Coding	4
147	PDGFD	Platelet Derived Growth Factor D	Protein Coding	4
148	CLEC11A	C-Type Lectin Domain Containing 11A	Protein Coding	4
149	SEMA3A	Semaphorin 3A	Protein Coding	4
150	SEMA4B	Semaphorin 4B	Protein Coding	4
151	SEMA4G	Semaphorin 4G	Protein Coding	4
152	SEMA5A	Semaphorin 5A	Protein Coding	4
153	SPON1	Spondin 1	Protein Coding	4
154	TBRG1	Transforming Growth Factor Beta Regulator 1	Protein Coding	4
155	CRIPTO	Cripto, EGF-CFC Family Member	Protein Coding	4
156	TGFA	Transforming Growth Factor Alpha	Protein Coding	4
157	TGFB1	Transforming Growth Factor Beta 1	Protein Coding	4
158	TGFB2	Transforming Growth Factor Beta 2	Protein Coding	4
159	TGFB3	Transforming Growth Factor Beta 3	Protein Coding	4
160	THPO	Thrombopoietin	Protein Coding	4
161	KLF10	KLF Transcription Factor 10	Protein Coding	4
162	TIMP1	TIMP Metallopeptidase Inhibitor 1	Protein Coding	4
163	TIMP2	TIMP Metallopeptidase Inhibitor 2	Protein Coding	4
164	TIMP3	TIMP Metallopeptidase Inhibitor 3	Protein Coding	4
165	TIMP4	TIMP Metallopeptidase Inhibitor 4	Protein Coding	4
166	UTS2	Urotensin 2	Protein Coding	4
167	VEGFB	Vascular Endothelial Growth Factor B	Protein Coding	4
168	VEGFC	Vascular Endothelial Growth Factor C	Protein Coding	4
169	ADCY1	Adenylate Cyclase 1	Protein Coding	3
170	ADCY2	Adenylate Cyclase 2	Protein Coding	3
171	ADCY3	Adenylate Cyclase 3	Protein Coding	3
172	CACNA1A	Calcium Voltage-Gated Channel Subunit Alpha1 A	Protein Coding	3
173	CACNA1B	Calcium Voltage-Gated Channel Subunit Alpha1 B	Protein Coding	3
174	CACNA1C	Calcium Voltage-Gated Channel Subunit Alpha1 C	Protein Coding	3
175	CACNA1D	Calcium Voltage-Gated Channel Subunit Alpha1 D	Protein Coding	3
176	CACNA1E	Calcium Voltage-Gated Channel Subunit Alpha1 E	Protein Coding	3
177	CACNA1F	Calcium Voltage-Gated Channel Subunit Alpha1 F	Protein Coding	3
178	CACNA1G	Calcium Voltage-Gated Channel Subunit Alpha1 G	Protein Coding	3
179	CACNA1H	Calcium Voltage-Gated Channel Subunit Alpha1 H	Protein Coding	3
180	CACNA1S	Calcium Voltage-Gated Channel Subunit Alpha1 S	Protein Coding	3
181	CACNA2D1	Calcium Voltage-Gated Channel Auxiliary Subunit Alpha2delta 1	Protein Coding	3
182	CACNA2D2	Calcium Voltage-Gated Channel Auxiliary Subunit Alpha2delta 2	Protein Coding	3
183	CACNA2D3	Calcium Voltage-Gated Channel Auxiliary Subunit Alpha2delta 3	Protein Coding	3
184	CACNA2D4	Calcium Voltage-Gated Channel Auxiliary Subunit Alpha2delta 4	Protein Coding	3
185	CACNB1	Calcium Voltage-Gated Channel Auxiliary Subunit Beta 1	Protein Coding	3
186	CACNB2	Calcium Voltage-Gated Channel Auxiliary Subunit Beta 2	Protein Coding	3
187	CACNB3	Calcium Voltage-Gated Channel Auxiliary Subunit Beta 3	Protein Coding	3
188	CACNB4	Calcium Voltage-Gated Channel Auxiliary Subunit Beta 4	Protein Coding	3
189	CACNG1	Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 1	Protein Coding	3
190	CACNG2	Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 2	Protein Coding	3
191	CACNG3	Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 3	Protein Coding	3
192	CACNG4	Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 4	Protein Coding	3
193	CACNG5	Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 5	Protein Coding	3
194	CACNG6	Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 6	Protein Coding	3
195	CACNG7	Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 7	Protein Coding	3
196	CACNG8	Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 8	Protein Coding	3
197	CALM1	Calmodulin 1	Protein Coding	3
198	CALM2	Calmodulin 2	Protein Coding	3
199	CALM3	Calmodulin 3	Protein Coding	3
200	CAMK4	Calcium/Calmodulin Dependent Protein Kinase IV	Protein Coding	3
201	CREBBP	CREB Binding Lysine Acetyltransferase	Protein Coding	3
202	EP300	EP300 Lysine Acetyltransferase	Protein Coding	3
203	GNA12	G Protein Subunit Alpha 12	Protein Coding	3
204	GNA13	G Protein Subunit Alpha 13	Protein Coding	3
205	GNAZ	G Protein Subunit Alpha Z	Protein Coding	3
206	HRAS	HRas Proto-Oncogene, GTPase	Protein Coding	3
207	IGF1R	Insulin Like Growth Factor 1 Receptor	Protein Coding	3
208	KIT	KIT Proto-Oncogene, Receptor Tyrosine Kinase	Protein Coding	3
209	NGFR	Nerve Growth Factor Receptor	Protein Coding	3
210	NTRK1	Neurotrophic Receptor Tyrosine Kinase 1	Protein Coding	3
211	NTRK2	Neurotrophic Receptor Tyrosine Kinase 2	Protein Coding	3
212	NTRK3	Neurotrophic Receptor Tyrosine Kinase 3	Protein Coding	3
213	OGFR	Opioid Growth Factor Receptor	Protein Coding	3
214	PIK3R5	Phosphoinositide-3-Kinase Regulatory Subunit 5	Protein Coding	3
215	PDGFRA	Platelet Derived Growth Factor Receptor Alpha	Protein Coding	3
216	PDGFRB	Platelet Derived Growth Factor Receptor Beta	Protein Coding	3
217	PIK3R1	Phosphoinositide-3-Kinase Regulatory Subunit 1	Protein Coding	3
218	PIK3R2	Phosphoinositide-3-Kinase Regulatory Subunit 2	Protein Coding	3
219	PIK3R3	Phosphoinositide-3-Kinase Regulatory Subunit 3	Protein Coding	3
220	PIK3R4	Phosphoinositide-3-Kinase Regulatory Subunit 4	Protein Coding	3
221	PLCZ1	Phospholipase C Zeta 1	Protein Coding	3
222	PRKCA	Protein Kinase C Alpha	Protein Coding	3
223	PRKCB	Protein Kinase C Beta	Protein Coding	3
224	PRKCD	Protein Kinase C Delta	Protein Coding	3
225	PRKCE	Protein Kinase C Epsilon	Protein Coding	3
226	PRKCG	Protein Kinase C Gamma	Protein Coding	3
227	PRKCH	Protein Kinase C Eta	Protein Coding	3
228	PRKCI	Protein Kinase C Iota	Protein Coding	3
229	PRKD1	Protein Kinase D1	Protein Coding	3
230	PRKD3	Protein Kinase D3	Protein Coding	3
231	PRKCQ	Protein Kinase C Theta	Protein Coding	3
232	PRKCZ	Protein Kinase C Zeta	Protein Coding	3
233	CLEC14A	C-Type Lectin Domain Containing 14A	Protein Coding	2
234	CACNA1I	Calcium Voltage-Gated Channel Subunit Alpha1 I	Protein Coding	2
235	CAMK2A	Calcium/Calmodulin Dependent Protein Kinase II Alpha	Protein Coding	2
236	CAMK2B	Calcium/Calmodulin Dependent Protein Kinase II Beta	Protein Coding	2
237	CAMK2D	Calcium/Calmodulin Dependent Protein Kinase II Delta	Protein Coding	2
238	CAMK2G	Calcium/Calmodulin Dependent Protein Kinase II Gamma	Protein Coding	2
239	HBEGF	Heparin Binding EGF Like Growth Factor	Protein Coding	2
240	ELK1	ETS Transcription Factor ELK1	Protein Coding	2
241	GLG1	Golgi Glycoprotein 1	Protein Coding	2
242	GPR119	G Protein-Coupled Receptor 119	Protein Coding	2
243	P2RY13	Purinergic Receptor P2Y13	Protein Coding	2
244	GRB2	Growth Factor Receptor Bound Protein 2	Protein Coding	2
245	GRIA1	Glutamate Ionotropic Receptor AMPA Type Subunit 1	Protein Coding	2
246	GRIA2	Glutamate Ionotropic Receptor AMPA Type Subunit 2	Protein Coding	2
247	GRIA3	Glutamate Ionotropic Receptor AMPA Type Subunit 3	Protein Coding	2
248	GRIA4	Glutamate Ionotropic Receptor AMPA Type Subunit 4	Protein Coding	2
249	GRID2	Glutamate Ionotropic Receptor Delta Type Subunit 2	Protein Coding	2
250	GRIK1	Glutamate Ionotropic Receptor Kainate Type Subunit 1	Protein Coding	2
251	GRIK2	Glutamate Ionotropic Receptor Kainate Type Subunit 2	Protein Coding	2
252	GRIK3	Glutamate Ionotropic Receptor Kainate Type Subunit 3	Protein Coding	2
253	IGF2R	Insulin Like Growth Factor 2 Receptor	Protein Coding	2
254	IL2RA	Interleukin 2 Receptor Subunit Alpha	Protein Coding	2
255	MAP2K1	Mitogen-Activated Protein Kinase Kinase 1	Protein Coding	2
256	MAP2K2	Mitogen-Activated Protein Kinase Kinase 2	Protein Coding	2
257	MAPK1	Mitogen-Activated Protein Kinase 1	Protein Coding	2
258	MAPK3	Mitogen-Activated Protein Kinase 3	Protein Coding	2
259	NRP1	Neuropilin 1	Protein Coding	2
260	NRP2	Neuropilin 2	Protein Coding	2
261	RAF1	Raf-1 Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	2
262	RPS6KA1	Ribosomal Protein S6 Kinase A1	Protein Coding	2
263	SOS1	SOS Ras/Rac Guanine Nucleotide Exchange Factor 1	Protein Coding	2
264	SOS2	SOS Ras/Rho Guanine Nucleotide Exchange Factor 2	Protein Coding	2
265	TGFBR1	Transforming Growth Factor Beta Receptor 1	Protein Coding	2
266	TGFBR3	Transforming Growth Factor Beta Receptor 3	Protein Coding	2
267	ATP2C1	ATPase Secretory Pathway Ca2+ Transporting 1	Protein Coding	2
268	CD3E	CD3 Epsilon Subunit Of T-Cell Receptor Complex	Protein Coding	2
269	CD247	CD247 Molecule	Protein Coding	2
270	HDAC9	Histone Deacetylase 9	Protein Coding	2
271	MEF2A	Myocyte Enhancer Factor 2A	Protein Coding	2
272	MEF2C	Myocyte Enhancer Factor 2C	Protein Coding	2
273	MEF2D	Myocyte Enhancer Factor 2D	Protein Coding	2
274	NFATC2	Nuclear Factor Of Activated T Cells 2	Protein Coding	2
275	PPP3CA	Protein Phosphatase 3 Catalytic Subunit Alpha	Protein Coding	2
276	PPP3CB	Protein Phosphatase 3 Catalytic Subunit Beta	Protein Coding	2
277	PPP3CC	Protein Phosphatase 3 Catalytic Subunit Gamma	Protein Coding	2
278	PPP3R1	Protein Phosphatase 3 Regulatory Subunit B, Alpha	Protein Coding	2
279	PPP3R2	Protein Phosphatase 3 Regulatory Subunit B, Beta	Protein Coding	2
280	SRC	SRC Proto-Oncogene, Non-Receptor Tyrosine Kinase	Protein Coding	2
281	AKT1	AKT Serine/Threonine Kinase 1	Protein Coding	1
282	GRM1	Glutamate Metabotropic Receptor 1	Protein Coding	1
283	GRM2	Glutamate Metabotropic Receptor 2	Protein Coding	1
284	GRM3	Glutamate Metabotropic Receptor 3	Protein Coding	1
285	GRM4	Glutamate Metabotropic Receptor 4	Protein Coding	1
286	GRM5	Glutamate Metabotropic Receptor 5	Protein Coding	1
287	GRM6	Glutamate Metabotropic Receptor 6	Protein Coding	1
288	GRM7	Glutamate Metabotropic Receptor 7	Protein Coding	1
289	GRM8	Glutamate Metabotropic Receptor 8	Protein Coding	1
290	GTF2B	General Transcription Factor IIB	Protein Coding	1
291	MAP2K3	Mitogen-Activated Protein Kinase Kinase 3	Protein Coding	1
292	MAP2K4	Mitogen-Activated Protein Kinase Kinase 4	Protein Coding	1
293	MAP2K5	Mitogen-Activated Protein Kinase Kinase 5	Protein Coding	1
294	MAP2K6	Mitogen-Activated Protein Kinase Kinase 6	Protein Coding	1
295	POLR2A	RNA Polymerase II Subunit A	Protein Coding	1
296	POLR2B	RNA Polymerase II Subunit B	Protein Coding	1
297	POLR2C	RNA Polymerase II Subunit C	Protein Coding	1
298	PRKACA	Protein Kinase CAMP-Activated Catalytic Subunit Alpha	Protein Coding	1
299	PRKACB	Protein Kinase CAMP-Activated Catalytic Subunit Beta	Protein Coding	1
300	PRKACG	Protein Kinase CAMP-Activated Catalytic Subunit Gamma	Protein Coding	1
301	PRKAR1A	Protein Kinase CAMP-Dependent Type I Regulatory Subunit Alpha	Protein Coding	1
302	PRKAR1B	Protein Kinase CAMP-Dependent Type I Regulatory Subunit Beta	Protein Coding	1
303	PRKAR2A	Protein Kinase CAMP-Dependent Type II Regulatory Subunit Alpha	Protein Coding	1
304	PRKAR2B	Protein Kinase CAMP-Dependent Type II Regulatory Subunit Beta	Protein Coding	1
305	TBP	TATA-Box Binding Protein	Protein Coding	1
306	ALK	ALK Receptor Tyrosine Kinase	Protein Coding	1
307	ATP2A1	ATPase Sarcoplasmic/Endoplasmic Reticulum Ca2+ Transporting 1	Protein Coding	1
308	ATP2A2	ATPase Sarcoplasmic/Endoplasmic Reticulum Ca2+ Transporting 2	Protein Coding	1
309	ATP2A3	ATPase Sarcoplasmic/Endoplasmic Reticulum Ca2+ Transporting 3	Protein Coding	1
310	ATP2B1	ATPase Plasma Membrane Ca2+ Transporting 1	Protein Coding	1
311	ATP2B2	ATPase Plasma Membrane Ca2+ Transporting 2	Protein Coding	1
312	ATP2B3	ATPase Plasma Membrane Ca2+ Transporting 3	Protein Coding	1
313	AXL	AXL Receptor Tyrosine Kinase	Protein Coding	1
314	CHRNA1	Cholinergic Receptor Nicotinic Alpha 1 Subunit	Protein Coding	1
315	CHRNA10	Cholinergic Receptor Nicotinic Alpha 10 Subunit	Protein Coding	1
316	CHRNA2	Cholinergic Receptor Nicotinic Alpha 2 Subunit	Protein Coding	1
317	CHRNA3	Cholinergic Receptor Nicotinic Alpha 3 Subunit	Protein Coding	1
318	CHRNA4	Cholinergic Receptor Nicotinic Alpha 4 Subunit	Protein Coding	1
319	CHRNA5	Cholinergic Receptor Nicotinic Alpha 5 Subunit	Protein Coding	1
320	CHRNA6	Cholinergic Receptor Nicotinic Alpha 6 Subunit	Protein Coding	1
321	CHRNA7	Cholinergic Receptor Nicotinic Alpha 7 Subunit	Protein Coding	1
322	CHRNA9	Cholinergic Receptor Nicotinic Alpha 9 Subunit	Protein Coding	1
323	CHRND	Cholinergic Receptor Nicotinic Delta Subunit	Protein Coding	1
324	CHRNE	Cholinergic Receptor Nicotinic Epsilon Subunit	Protein Coding	1
325	CHRNG	Cholinergic Receptor Nicotinic Gamma Subunit	Protein Coding	1
326	CNGA1	Cyclic Nucleotide Gated Channel Subunit Alpha 1	Protein Coding	1
327	CNGA3	Cyclic Nucleotide Gated Channel Subunit Alpha 3	Protein Coding	1
328	CNGA4	Cyclic Nucleotide Gated Channel Subunit Alpha 4	Protein Coding	1
329	CNGB1	Cyclic Nucleotide Gated Channel Subunit Beta 1	Protein Coding	1
330	CNGB3	Cyclic Nucleotide Gated Channel Subunit Beta 3	Protein Coding	1
331	CSF1R	Colony Stimulating Factor 1 Receptor	Protein Coding	1
332	DDR1	Discoidin Domain Receptor Tyrosine Kinase 1	Protein Coding	1
333	DDR2	Discoidin Domain Receptor Tyrosine Kinase 2	Protein Coding	1
334	EPHA1	EPH Receptor A1	Protein Coding	1
335	EPHA2	EPH Receptor A2	Protein Coding	1
336	EPHA3	EPH Receptor A3	Protein Coding	1
337	EPHA4	EPH Receptor A4	Protein Coding	1
338	EPHA5	EPH Receptor A5	Protein Coding	1
339	EPHA7	EPH Receptor A7	Protein Coding	1
340	EPHA8	EPH Receptor A8	Protein Coding	1
341	EPHB1	EPH Receptor B1	Protein Coding	1
342	EPHB2	EPH Receptor B2	Protein Coding	1
343	EPHB3	EPH Receptor B3	Protein Coding	1
344	EPHB4	EPH Receptor B4	Protein Coding	1
345	EPHB6	EPH Receptor B6	Protein Coding	1
346	EPOR	Erythropoietin Receptor	Protein Coding	1
347	ERBB2	Erb-B2 Receptor Tyrosine Kinase 2	Protein Coding	1
348	ERBB3	Erb-B2 Receptor Tyrosine Kinase 3	Protein Coding	1
349	ERBB4	Erb-B2 Receptor Tyrosine Kinase 4	Protein Coding	1
350	FLT3	Fms Related Receptor Tyrosine Kinase 3	Protein Coding	1
351	GRIN1	Glutamate Ionotropic Receptor NMDA Type Subunit 1	Protein Coding	1
352	GRIN2A	Glutamate Ionotropic Receptor NMDA Type Subunit 2A	Protein Coding	1
353	GRIN2B	Glutamate Ionotropic Receptor NMDA Type Subunit 2B	Protein Coding	1
354	GRIN2C	Glutamate Ionotropic Receptor NMDA Type Subunit 2C	Protein Coding	1
355	GRIN2D	Glutamate Ionotropic Receptor NMDA Type Subunit 2D	Protein Coding	1
356	GRINA	Glutamate Ionotropic Receptor NMDA Type Subunit Associated Protein 1	Protein Coding	1
357	GUCY1A2	Guanylate Cyclase 1 Soluble Subunit Alpha 2	Protein Coding	1
358	GUCY1A1	Guanylate Cyclase 1 Soluble Subunit Alpha 1	Protein Coding	1
359	GUCY1B1	Guanylate Cyclase 1 Soluble Subunit Beta 1	Protein Coding	1
360	GUCY2C	Guanylate Cyclase 2C	Protein Coding	1
361	GUCY2D	Guanylate Cyclase 2D, Retinal	Protein Coding	1
362	GUCY2EP	Guanylate Cyclase 2E, Pseudogene	Pseudogene	1
363	GUCY2F	Guanylate Cyclase 2F, Retinal	Protein Coding	1
364	HDAC1	Histone Deacetylase 1	Protein Coding	1
365	HDAC10	Histone Deacetylase 10	Protein Coding	1
366	HDAC11	Histone Deacetylase 11	Protein Coding	1
367	HDAC2	Histone Deacetylase 2	Protein Coding	1
368	HDAC3	Histone Deacetylase 3	Protein Coding	1
369	HDAC5	Histone Deacetylase 5	Protein Coding	1
370	HDAC6	Histone Deacetylase 6	Protein Coding	1
371	HDAC7	Histone Deacetylase 7	Protein Coding	1
372	HDAC8	Histone Deacetylase 8	Protein Coding	1
373	HTR1A	5-Hydroxytryptamine Receptor 1A	Protein Coding	1
374	HTR1B	5-Hydroxytryptamine Receptor 1B	Protein Coding	1
375	HTR1D	5-Hydroxytryptamine Receptor 1D	Protein Coding	1
376	HTR1E	5-Hydroxytryptamine Receptor 1E	Protein Coding	1
377	HTR1F	5-Hydroxytryptamine Receptor 1F	Protein Coding	1
378	HTR2A	5-Hydroxytryptamine Receptor 2A	Protein Coding	1
379	HTR2B	5-Hydroxytryptamine Receptor 2B	Protein Coding	1
380	HTR2C	5-Hydroxytryptamine Receptor 2C	Protein Coding	1
381	HTR3A	5-Hydroxytryptamine Receptor 3A	Protein Coding	1
382	HTR3B	5-Hydroxytryptamine Receptor 3B	Protein Coding	1
383	HTR3C	5-Hydroxytryptamine Receptor 3C	Protein Coding	1
384	HTR3D	5-Hydroxytryptamine Receptor 3D	Protein Coding	1
385	HTR3E	5-Hydroxytryptamine Receptor 3E	Protein Coding	1
386	HTR4	5-Hydroxytryptamine Receptor 4	Protein Coding	1
387	HTR5A	5-Hydroxytryptamine Receptor 5A	Protein Coding	1
388	HTR6	5-Hydroxytryptamine Receptor 6	Protein Coding	1
389	HTR7	5-Hydroxytryptamine Receptor 7	Protein Coding	1
390	INSR	Insulin Receptor	Protein Coding	1
391	INSRR	Insulin Receptor Related Receptor	Protein Coding	1
392	KRAS	KRAS Proto-Oncogene, GTPase	Protein Coding	1
393	LIFR	LIF Receptor Subunit Alpha	Protein Coding	1
394	LMTK2	Lemur Tyrosine Kinase 2	Protein Coding	1
395	LMTK3	Lemur Tyrosine Kinase 3	Protein Coding	1
396	MERTK	MER Proto-Oncogene, Tyrosine Kinase	Protein Coding	1
397	MRAS	Muscle RAS Oncogene Homolog	Protein Coding	1
398	MST1R	Macrophage Stimulating 1 Receptor	Protein Coding	1
399	MUSK	Muscle Associated Receptor Tyrosine Kinase	Protein Coding	1
400	NFAT5	Nuclear Factor Of Activated T Cells 5	Protein Coding	1
401	NFATC1	Nuclear Factor Of Activated T Cells 1	Protein Coding	1
402	NFATC3	Nuclear Factor Of Activated T Cells 3	Protein Coding	1
403	NFATC4	Nuclear Factor Of Activated T Cells 4	Protein Coding	1
404	NPR1	Natriuretic Peptide Receptor 1	Protein Coding	1
405	NPR2	Natriuretic Peptide Receptor 2	Protein Coding	1
406	NRAS	NRAS Proto-Oncogene, GTPase	Protein Coding	1
407	P2RX1	Purinergic Receptor P2X 1	Protein Coding	1
408	P2RX2	Purinergic Receptor P2X 2	Protein Coding	1
409	P2RX3	Purinergic Receptor P2X 3	Protein Coding	1
410	P2RX4	Purinergic Receptor P2X 4	Protein Coding	1
411	P2RX5	Purinergic Receptor P2X 5	Protein Coding	1
412	P2RX7	Purinergic Receptor P2X 7	Protein Coding	1
413	P2RX6	Purinergic Receptor P2X 6	Protein Coding	1
414	PTK7	Protein Tyrosine Kinase 7 (Inactive)	Protein Coding	1
415	QDPR	Quinoid Dihydropteridine Reductase	Protein Coding	1
416	ROR1	Receptor Tyrosine Kinase Like Orphan Receptor 1	Protein Coding	1
417	ROR2	Receptor Tyrosine Kinase Like Orphan Receptor 2	Protein Coding	1
418	ROS1	ROS Proto-Oncogene 1, Receptor Tyrosine Kinase	Protein Coding	1
419	RRAS	RAS Related	Protein Coding	1
420	RRAS2	RAS Related 2	Protein Coding	1
421	RYK	Receptor Like Tyrosine Kinase	Protein Coding	1
422	RYR1	Ryanodine Receptor 1	Protein Coding	1
423	RYR2	Ryanodine Receptor 2	Protein Coding	1
424	RYR3	Ryanodine Receptor 3	Protein Coding	1
425	SLC8A1	Solute Carrier Family 8 Member A1	Protein Coding	1
426	SLC8A2	Solute Carrier Family 8 Member A2	Protein Coding	1
427	SLC8A3	Solute Carrier Family 8 Member A3	Protein Coding	1
428	SLC9A1	Solute Carrier Family 9 Member A1	Protein Coding	1
429	SLC9A2	Solute Carrier Family 9 Member A2	Protein Coding	1
430	SLC9A3	Solute Carrier Family 9 Member A3	Protein Coding	1
431	SLC9A4	Solute Carrier Family 9 Member A4	Protein Coding	1
432	SLC9A6	Solute Carrier Family 9 Member A6	Protein Coding	1
433	TEK	TEK Receptor Tyrosine Kinase	Protein Coding	1
434	TIE1	Tyrosine Kinase With Immunoglobulin Like And EGF Like Domains 1	Protein Coding	1
435	TRPC1	Transient Receptor Potential Cation Channel Subfamily C Member 1	Protein Coding	1
436	TRPC2	Transient Receptor Potential Cation Channel Subfamily C Member 2 (Pseudogene)	Pseudogene	1
437	TRPC3	Transient Receptor Potential Cation Channel Subfamily C Member 3	Protein Coding	1
438	TRPC4	Transient Receptor Potential Cation Channel Subfamily C Member 4	Protein Coding	1
439	TRPC5	Transient Receptor Potential Cation Channel Subfamily C Member 5	Protein Coding	1
440	TRPC6	Transient Receptor Potential Cation Channel Subfamily C Member 6	Protein Coding	1
441	TRPC7	Transient Receptor Potential Cation Channel Subfamily C Member 7	Protein Coding	1
442	TRPM1	Transient Receptor Potential Cation Channel Subfamily M Member 1	Protein Coding	1
443	TRPM2	Transient Receptor Potential Cation Channel Subfamily M Member 2	Protein Coding	1
444	TRPM3	Transient Receptor Potential Cation Channel Subfamily M Member 3	Protein Coding	1
445	TRPM4	Transient Receptor Potential Cation Channel Subfamily M Member 4	Protein Coding	1
446	TRPM5	Transient Receptor Potential Cation Channel Subfamily M Member 5	Protein Coding	1
447	TRPM6	Transient Receptor Potential Cation Channel Subfamily M Member 6	Protein Coding	1
448	TRPM7	Transient Receptor Potential Cation Channel Subfamily M Member 7	Protein Coding	1
449	TRPM8	Transient Receptor Potential Cation Channel Subfamily M Member 8	Protein Coding	1
450	TRPV1	Transient Receptor Potential Cation Channel Subfamily V Member 1	Protein Coding	1
451	TRPV2	Transient Receptor Potential Cation Channel Subfamily V Member 2	Protein Coding	1
452	TRPV3	Transient Receptor Potential Cation Channel Subfamily V Member 3	Protein Coding	1
453	TRPV4	Transient Receptor Potential Cation Channel Subfamily V Member 4	Protein Coding	1
454	TRPV5	Transient Receptor Potential Cation Channel Subfamily V Member 5	Protein Coding	1
455	TRPV6	Transient Receptor Potential Cation Channel Subfamily V Member 6	Protein Coding	1
456	TYRO3	TYRO3 Protein Tyrosine Kinase	Protein Coding	1
457	ADCY4	Adenylate Cyclase 4	Protein Coding	1
458	ADCY5	Adenylate Cyclase 5	Protein Coding	1
459	ADCY6	Adenylate Cyclase 6	Protein Coding	1
460	ADCY7	Adenylate Cyclase 7	Protein Coding	1
461	ADCY8	Adenylate Cyclase 8	Protein Coding	1
462	ADCY9	Adenylate Cyclase 9	Protein Coding	1
463	RHOA	Ras Homolog Family Member A	Protein Coding	1
464	RHOB	Ras Homolog Family Member B	Protein Coding	1
465	RHOC	Ras Homolog Family Member C	Protein Coding	1
466	RHOD	Ras Homolog Family Member D	Protein Coding	1
467	RND3	Rho Family GTPase 3	Protein Coding	1
468	RHOG	Ras Homolog Family Member G	Protein Coding	1
469	ARHGEF1	Rho Guanine Nucleotide Exchange Factor 1	Protein Coding	1
470	ARHGEF10	Rho Guanine Nucleotide Exchange Factor 10	Protein Coding	1
471	ARHGEF11	Rho Guanine Nucleotide Exchange Factor 11	Protein Coding	1
472	ARHGEF12	Rho Guanine Nucleotide Exchange Factor 12	Protein Coding	1
473	ARHGEF2	Rho/Rac Guanine Nucleotide Exchange Factor 2	Protein Coding	1
474	ARHGEF3	Rho Guanine Nucleotide Exchange Factor 3	Protein Coding	1
475	ARHGEF4	Rho Guanine Nucleotide Exchange Factor 4	Protein Coding	1
476	ARHGEF5	Rho Guanine Nucleotide Exchange Factor 5	Protein Coding	1
477	ARHGEF6	Rac/Cdc42 Guanine Nucleotide Exchange Factor 6	Protein Coding	1
478	ARHGEF7	Rho Guanine Nucleotide Exchange Factor 7	Protein Coding	1
479	ARHGEF9	Cdc42 Guanine Nucleotide Exchange Factor 9	Protein Coding	1
480	RHOH	Ras Homolog Family Member H	Protein Coding	1
481	DIRAS3	DIRAS Family GTPase 3	Protein Coding	1
482	RND2	Rho Family GTPase 2	Protein Coding	1
483	RACK1	Receptor For Activated C Kinase 1	Protein Coding	1
484	RXFP1	Relaxin Family Peptide Receptor 1	Protein Coding	1
485	RXFP2	Relaxin Family Peptide Receptor 2	Protein Coding	1
486	MYL9	Myosin Light Chain 9	Protein Coding	1
487	NET1	Neuroepithelial Cell Transforming 1	Protein Coding	1
488	NFKB1	Nuclear Factor Kappa B Subunit 1	Protein Coding	1
489	PDE1A	Phosphodiesterase 1A	Protein Coding	1
490	PDE1B	Phosphodiesterase 1B	Protein Coding	1
491	PDE1C	Phosphodiesterase 1C	Protein Coding	1
492	PDE2A	Phosphodiesterase 2A	Protein Coding	1
493	PDE3A	Phosphodiesterase 3A	Protein Coding	1
494	PDE3B	Phosphodiesterase 3B	Protein Coding	1
495	PPP1CB	Protein Phosphatase 1 Catalytic Subunit Beta	Protein Coding	1
496	PPP1R12A	Protein Phosphatase 1 Regulatory Subunit 12A	Protein Coding	1
497	PPP1R12B	Protein Phosphatase 1 Regulatory Subunit 12B	Protein Coding	1
498	PPP1R14A	Protein Phosphatase 1 Regulatory Inhibitor Subunit 14A	Protein Coding	1
499	RAC1	Rac Family Small GTPase 1	Protein Coding	1
500	RAC2	Rac Family Small GTPase 2	Protein Coding	1
501	RAC3	Rac Family Small GTPase 3	Protein Coding	1
502	RAP1A	RAP1A, Member Of RAS Oncogene Family	Protein Coding	1
503	RAP1B	RAP1B, Member Of RAS Oncogene Family	Protein Coding	1
504	RLN1	Relaxin 1	Protein Coding	1
505	RLN2	Relaxin 2	Protein Coding	1
506	RLN3	Relaxin 3	Protein Coding	1
507	TGM2	Transglutaminase 2	Protein Coding	1
508	BTK	Bruton Tyrosine Kinase	Protein Coding	1
509	CAMKK1	Calcium/Calmodulin Dependent Protein Kinase Kinase 1	Protein Coding	1
510	CAMKK2	Calcium/Calmodulin Dependent Protein Kinase Kinase 2	Protein Coding	1
511	CD19	CD19 Molecule	Protein Coding	1
512	CD3D	CD3 Delta Subunit Of T-Cell Receptor Complex	Protein Coding	1
513	CD3G	CD3 Gamma Subunit Of T-Cell Receptor Complex	Protein Coding	1
514	CD79A	CD79a Molecule	Protein Coding	1
515	CD79B	CD79b Molecule	Protein Coding	1
516	FYB1	FYN Binding Protein 1	Protein Coding	1
517	FYN	FYN Proto-Oncogene, Src Family Tyrosine Kinase	Protein Coding	1
518	GRAP2	GRB2 Related Adaptor Protein 2	Protein Coding	1
519	ITK	IL2 Inducible T Cell Kinase	Protein Coding	1
520	LAT	Linker For Activation Of T Cells	Protein Coding	1
521	LCP2	Lymphocyte Cytosolic Protein 2	Protein Coding	1
522	PTEN	Phosphatase And Tensin Homolog	Protein Coding	1
523	SYK	Spleen Associated Tyrosine Kinase	Protein Coding	1
524	VAV1	Vav Guanine Nucleotide Exchange Factor 1	Protein Coding	1
525	VAV2	Vav Guanine Nucleotide Exchange Factor 2	Protein Coding	1
526	VAV3	Vav Guanine Nucleotide Exchange Factor 3	Protein Coding	1
527	ZAP70	Zeta Chain Of T Cell Receptor Associated Protein Kinase 70	Protein Coding	1

Disorders associated with CREB Pathway SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Lacrimoauriculodentodigital syndrome 1	Enrichment	FGF10, FGFR2, FGFR3	5.20
2	T-b+ severe combined immunodeficiency due to cd3delta/cd3epsilon/cd3zeta	Enrichment	CD247, CD3D, CD3E	5.20
3	Noonan syndrome 1	Enrichment	HRAS, MAP2K1, MAP2K2, RAF1, SOS1, SOS2	5.16
4	Lung non-small cell carcinoma	Enrichment	EGFR, ERBB2, HRAS, KRAS, NRAS	5.08
5	Lung squamous cell carcinoma	Enrichment	ALK, EGFR, FGFR3, KRAS	4.99
6	Noonan syndrome and noonan-related syndrome	Enrichment	HRAS, MAP2K1, MAP2K2, RAF1, SOS1	4.96
7	Rasopathy	Enrichment	HRAS, MAP2K1, MAP2K2, RAF1, SOS1, SOS2	4.83
8	Nevus, epidermal	Enrichment	FGFR3, HRAS, KRAS, NRAS	4.63
9	Cone-rod dystrophy 6	Enrichment	CACNA1F, CACNA2D4, CNGB3, GNAT2, GUCY2D	4.48
10	Lung cancer susceptibility 3	Enrichment	EGFR, ERBB2, FGF10, KRAS, ROS1	4.48
11	Multiple pterygium syndrome, lethal type	Enrichment	CHRNA1, CHRND, CHRNG, RYR1	4.34
12	Catecholaminergic polymorphic ventricular tachycardia	Enrichment	CALM1, CALM2, CALM3, RYR2	4.34
13	Primary hypereosinophilic syndrome	Enrichment	FGFR1, PDGFRA, PDGFRB	4.13
14	Autosomal dominant non-syndromic intellectual disability	Enrichment	CACNG2, ERBB4, GNB1, GRIA1, GRIN1, GRIN2B, PPP3CA, TRPM3	4.05
15	Schimmelpenning-feuerstein-mims syndrome	Enrichment	HRAS, KRAS, NRAS	4.01
16	Myasthenic syndrome, congenital, 1b, fast-channel	Enrichment	CHRNA1, CHRND, CHRNE	4.01
17	Congenital stationary night blindness	Enrichment	CACNA1F, CACNA2D4, GNAT1, GNB3, GRM6	3.97
18	Testicular germ cell tumor	Enrichment	FGFR3, KIT, KITLG	3.84
19	Bladder cancer	Enrichment	EGFR, ERBB2, ERBB3, FGFR3, HRAS, KRAS	3.80
20	Differentiated thyroid carcinoma	Enrichment	ALK, HRAS, KRAS, NRAS, NTRK1, NTRK3	3.80
21	Microform holoprosencephaly	Enrichment	CRIPTO, FGF8, FGFR1, GAS1	3.75
22	Lobar holoprosencephaly	Enrichment	CRIPTO, FGF8, FGFR1, GAS1	3.75
23	Long qt syndrome 1	Enrichment	CACNA1C, CALM1, CALM2, CALM3, ITPR3	3.68
24	Pilomyxoid astrocytoma	Enrichment	FGFR1, NTRK2, RAF1	3.60
25	Semilobar holoprosencephaly	Enrichment	CRIPTO, FGF8, FGFR1, GAS1	3.54
26	Normosmic congenital hypogonadotropic hypogonadism	Enrichment	FGF17, FGF8, FGFR1, GNRH1	3.54
27	Postsynaptic congenital myasthenic syndromes	Enrichment	CHRNA1, CHRND, CHRNE, MUSK	3.53
28	Noonan syndrome 3	Enrichment	HRAS, RAF1, SOS1	3.49
29	Severe combined immunodeficiency	Enrichment	CD247, CD3D, CD3E, CD3G, ZAP70	3.48
30	Pfeiffer syndrome	Enrichment	FGFR1, FGFR2	3.46
31	Jackson-weiss syndrome	Enrichment	FGFR1, FGFR2	3.46
32	Angioma, tufted	Enrichment	GNA14, KDR	3.46
33	Loeys-dietz syndrome 4	Enrichment	TGFB2, TGFB3	3.46
34	Diffuse large b-cell lymphoma	Enrichment	BTK, CD79B, CREBBP, PTEN	3.44
35	Pigmented nodular adrenocortical disease, primary, 1	Enrichment	GNAS, PRKAR1A	3.34
36	Cerebral visual impairment	Enrichment	GNB1, GRIK2	3.34
37	Eye disease	Enrichment	CACNA1F, CACNA2D4, CNGA3, CNGB3, GNAT2, TRPM6	3.33
38	Scoliosis	Enrichment	CHRNG, CREBBP, GRIN2B, RYR1, SLC9A6	3.26
39	Loeys-dietz syndrome	Enrichment	TGFB2, TGFB3, TGFBR1	3.23
40	Fetal akinesia deformation sequence 1	Enrichment	ATP2B3, CHRND, CHRNG, MUSK, ROR2, RYR1	3.19
41	Autosomal non-syndromic agammaglobulinemia	Enrichment	CD79A, CD79B, PIK3R1	3.16
42	Kallmann syndrome	Enrichment	FGF17, FGF8, FGFR1, SEMA3A	3.11
43	Myasthenic syndrome, congenital, 1a, slow-channel	Enrichment	CHRNA1, CHRND, CHRNE	3.10
44	Brugada syndrome	Enrichment	CACNA1C, CACNA2D1, CACNB2, SEMA3A, TRPM4	3.09
45	Marfan syndrome	Enrichment	LTBP2, TGFB2, TGFBR1	3.08
46	Lymphatic malformation 1	Enrichment	EPHB4, FLT4	3.07
47	Intracranial hypertension, idiopathic	Enrichment	EPHB4, FLT4	3.07
48	Encephalocraniocutaneous lipomatosis	Enrichment	FGFR1, KRAS	3.07
49	Ras-associated autoimmune leukoproliferative disorder	Enrichment	KRAS, NRAS	3.07
50	Achromatopsia 3	Enrichment	CNGA3, CNGB3	3.07
51	Smoking as a quantitative trait locus 3	Enrichment	CHRNA3, CHRNA5	3.07
52	Hereditary lymphedema i	Enrichment	EPHB4, FLT4	3.07
53	Crouzon syndrome	Enrichment	FGFR2, FGFR3	2.99
54	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	Enrichment	GNA11, PIK3R1	2.99
55	Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures	Enrichment	CACNA1A, CACNA1C	2.99
56	Spermatocytoma	Enrichment	FGFR3, HRAS	2.99
57	Anastomosing haemangioma	Enrichment	GNA11, GNA14	2.99
58	Testicular germ cell cancer	Enrichment	FGFR3, KIT	2.94
59	Undetermined early-onset epileptic encephalopathy	Enrichment	CACNA1A, CACNA1B, CACNA2D1, FGF12, GRIN2D, NTRK2, PPP3CA	2.94
60	Melanocytic nevus syndrome, congenital	Enrichment	ALK, HRAS, NRAS	2.91
61	Giant cell glioblastoma	Enrichment	EGFR, FGFR1, FGFR3, ROS1	2.90
62	West syndrome	Enrichment	GNAO1, GRIA3, GRIN1, GRIN2B, NTRK2, PLCB1	2.78
63	Arteriovenous malformation	Enrichment	EPHB4, HRAS, TEK	2.74
64	Lip and oral cavity carcinoma	Enrichment	EGFR, HRAS, KIT	2.73
65	Long qt syndrome	Enrichment	CACNA1C, CACNA1S, CALM1, CALM2, RYR2	2.73
66	Non-immune hydrops fetalis	Enrichment	CHRNA1, EPHB4, FLT4, HRAS, KRAS	2.73
67	Arteriovenous malformations of the brain	Enrichment	EGFR, IL6, KRAS, TIMP3	2.71
68	Brachydactyly, type a2	Enrichment	BMP2, GDF5	2.70
69	Auriculocondylar syndrome 1	Enrichment	GNAI3, PLCB4	2.70
70	Saethre-chotzen syndrome	Enrichment	FGFR2, FGFR3	2.70
71	Achromatopsia 4	Enrichment	GNAI3, GNAT2	2.70
72	Multiple synostoses syndrome	Enrichment	GDF5, GDF6	2.70
73	Glioma	Enrichment	FGFR2, PTEN	2.70
74	Lung cancer	Enrichment	ALK, EGFR, ERBB2, KRAS, MET	2.66
75	Cardiofaciocutaneous syndrome 1	Enrichment	MAP2K1, MAP2K2	2.64
76	Cardiofaciocutaneous syndrome	Enrichment	MAP2K1, MAP2K2	2.64
77	Craniosynostosis	Enrichment	FGFR2, FGFR3, GRIN2B, NPR2	2.62
78	Rare genetic intellectual disability	Enrichment	CREBBP, EP300, GNAO1	2.61
79	Septopreoptic holoprosencephaly	Enrichment	CRIPTO, FGF8, GAS1	2.61
80	Midline interhemispheric variant of holoprosencephaly	Enrichment	CRIPTO, FGF8, GAS1	2.61
81	Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies	Enrichment	GUCY2C, SLC9A3	2.60
82	Hypomagnesemia 1, intestinal	Enrichment	TRPM6, TRPM7	2.60
83	Large congenital melanocytic nevus	Enrichment	HRAS, NRAS	2.60
84	Bronchopulmonary dysplasia	Enrichment	MUSK, RYR1	2.60
85	Myopathy, x-linked, with excessive autophagy	Enrichment	EPHB4, HRAS, TEK	2.59
86	Achromatopsia	Enrichment	CNGA3, CNGB3, GNAT2	2.59
87	Colorectal cancer	Enrichment	AKT1, EP300, FGFR2, FGFR3, IGF2, MET, PIK3R1	2.58
88	Ovarian cancer	Enrichment	ALK, EGFR, ERBB2, KIT, KRAS, MET, NTRK1, PDGFRA, RRAS2	2.56
89	Centronuclear myopathy	Enrichment	CACNA1S, CHRNA1, CHRND, RYR1	2.54
90	Gliosarcoma	Enrichment	EGFR, FGFR1, FGFR3	2.53
91	Hemifacial hyperplasia	Enrichment	FGFR2, FGFR3	2.48
92	Ventricular septal defect 1	Enrichment	BMP2, BMP7	2.48
93	Holoprosencephaly	Enrichment	FGF8, FGFR1	2.48
94	Alobar holoprosencephaly	Enrichment	CRIPTO, FGF8, GAS1	2.45
95	Congenital nervous system abnormality	Enrichment	CACNA1A, CAMK2B, CREBBP, FGFR3, GNAO1, GNB5, PTEN	2.44
96	Nervous system disease	Enrichment	CACNA1A, CAMK2B, CREBBP, FGFR3, GNAO1, GNB5, PTEN	2.44
97	Insulin-like growth factor i	Enrichment	IGF1, IGF1R	2.43
98	Familial cerebral saccular aneurysm	Enrichment	ANGPTL6, TGFBR3	2.43
99	Night blindness, congenital stationary, type 1c	Enrichment	GNAT1, GRM6	2.36
100	Juvenile myelomonocytic leukemia	Enrichment	KRAS, NRAS, RRAS	2.35
101	Cone dystrophy	Enrichment	CACNA2D4, CNGA3, GNAT2, GUCY2D	2.32
102	Ventricular fibrillation, paroxysmal familial, 1	Enrichment	CACNA1C, RYR2	2.31
103	Glaucoma 3, primary infantile, b	Enrichment	LTBP2, TEK	2.31
104	Chronic myelogenous leukemia, bcr-abl1 positive	Enrichment	KRAS, NRAS	2.31
105	Malignant hyperthermia	Enrichment	CACNA1S, RYR1	2.31
106	Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)	Enrichment	FLT3, KIT	2.31
107	Atrial septal defect 1	Enrichment	BMP2, TGFB2	2.31
108	Melanoma, uveal	Enrichment	GNA11, PLCB4	2.31
109	Cowden syndrome 1	Enrichment	EGFR, PTEN	2.31
110	Rubinstein-taybi syndrome 1	Enrichment	CREBBP, EP300	2.31
111	Holoprosencephaly 1	Enrichment	FGF8, FGFR1	2.31
112	Hemangioma, capillary infantile	Enrichment	FLT4, KDR	2.31
113	Chromosome 16p13.3 deletion syndrome, proximal	Enrichment	CREBBP, EP300	2.31
114	Cerebral palsy	Enrichment	CACNA1A, CACNA1C, GNB1, GRIN2B, PDGFRB	2.28
115	Hemihyperplasia, isolated	Enrichment	IGF2, RHOA	2.26
116	Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly	Enrichment	ATP2B1, RYR1, TRPV4	2.25
117	Clubfoot	Enrichment	ATP2B1, RYR1, TRPV4	2.25
118	Nk-cell enteropathy	Enrichment	AXL, ERBB4, IGF1R	2.25
119	Hydrops fetalis, nonimmune	Enrichment	CHRNA1, EPHB4, FLT4, HRAS	2.19
120	Dystonia	Enrichment	CAMK2B, GNAL, GNB1, GRIA3	2.19
121	Thyroid cancer, nonmedullary, 2	Enrichment	HRAS, PTEN	2.17
122	Squamous cell carcinoma, head and neck	Enrichment	EGFR, PTEN	2.17
123	Follicular thyroid carcinoma	Enrichment	HRAS, PTEN	2.17
124	Developmental and epileptic encephalopathy	Enrichment	CACNA1E, CACNA2D2, GNAO1, GRIA3	2.15
125	Distal arthrogryposis	Enrichment	ATP2B3, CHRND, CHRNG, ROR2, RYR1	2.14
126	Gastrointestinal stromal tumor	Enrichment	KIT, PDGFRA	2.12
127	Neuropathy, hereditary sensory and autonomic, type v	Enrichment	NGF, NTRK1	2.12
128	Heart conduction disease	Enrichment	CACNA1C, RYR2	2.10
129	Acute myeloid leukemia with maturation	Enrichment	FLT3, KIT	2.10
130	Acute myeloid leukemia with t(8;21)(q22;q22) translocation	Enrichment	FLT3, KIT	2.10
131	Sleep disorder	Enrichment	GRIN2B, SLC9A6	2.10
132	Hemochromatosis, type 1	Enrichment	BMP2, BMP6	2.05
133	Basal ganglia calcification, idiopathic, 1	Enrichment	PDGFB, PDGFRB	2.00
134	Choreatic disease	Enrichment	GNAO1, PDE2A	2.00
135	Primary hyperaldosteronism	Enrichment	CACNA1H, GNAS	1.94
136	Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy	Enrichment	CALM1, RYR2	1.93
137	46,xy disorder of sex development	Enrichment	FGFR3, INSR	1.93
138	Inflammatory bowel disease 1	Enrichment	IL6, PRKCQ	1.89
139	Cone-rod dystrophy 2	Enrichment	CACNA1F, CACNA2D4, CNGA1, CNGA3, CNGB3, GUCY2D	1.85
140	Beckwith-wiedemann syndrome	Enrichment	IGF2, RYR1, TRPV4	1.84
141	Ellis-van creveld syndrome	Enrichment	PRKACA, PRKACB	1.83
142	Glaucoma 3, primary congenital, a	Enrichment	LTBP2, TEK	1.79
143	Capillary malformation-arteriovenous malformation 1	Enrichment	EPHB4, KRAS	1.79
144	Leukemia, chronic myeloid	Enrichment	KRAS, NRAS	1.79
145	Autosomal dominant sleep-related hypermotor epilepsy	Enrichment	CHRNA2, CHRNA4	1.79
146	Microcephaly	Enrichment	CAMK2B, EP300, GNAO1, GNB1, GRM7, IGF1R, MAPK1	1.78
147	Congenital myopathy	Enrichment	CACNA1S, CHRNA1, RYR1	1.77
148	Meningioma, familial	Enrichment	PDGFB, PTEN	1.77
149	Anhidrosis, isolated, with normal sweat glands	Enrichment	ITPR2	1.73
150	Hypochondroplasia	Enrichment	FGFR3	1.73
151	Beare-stevenson cutis gyrata syndrome	Enrichment	FGFR2	1.73
152	Hypocalciuric hypercalcemia, familial, type ii	Enrichment	GNA11	1.73
153	Osteoglophonic dysplasia	Enrichment	FGFR1	1.73
154	Thanatophoric dysplasia, type i	Enrichment	FGFR3	1.73
155	Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma	Enrichment	LTBP2	1.73
156	Thyrotoxic periodic paralysis 1	Enrichment	CACNA1S	1.73
157	Trigonocephaly 1	Enrichment	FGFR1	1.73
158	Spinocerebellar ataxia 27a	Enrichment	FGF14	1.73
159	Muenke syndrome	Enrichment	FGFR3	1.73
160	Vacterl association with hydrocephalus	Enrichment	PTEN	1.73
161	Hypomagnesemia 4, renal	Enrichment	EGF	1.73
162	Glaucoma 3, primary congenital, d	Enrichment	LTBP2	1.73
163	Microphthalmia, isolated 4	Enrichment	GDF6	1.73
164	Angel-shaped phalangoepiphyseal dysplasia	Enrichment	GDF5	1.73
165	Noonan syndrome 4	Enrichment	SOS1	1.73
166	Pseudohypoparathyroidism, type ic	Enrichment	GNAS	1.73
167	Epilepsy, idiopathic generalized 9	Enrichment	CACNB4	1.73
168	Deafness, autosomal recessive 39	Enrichment	HGF	1.73
169	Brugada syndrome 4	Enrichment	CACNB2	1.73
170	Scaphocephaly, maxillary retrusion, and impaired intellectual development	Enrichment	FGFR2	1.73
171	Osseous heteroplasia, progressive	Enrichment	GNAS	1.73
172	Apert syndrome	Enrichment	FGFR2	1.73
173	Basal ganglia calcification, idiopathic, 5	Enrichment	PDGFB	1.73
174	Hyperpigmentation with or without hypopigmentation, familial progressive	Enrichment	KITLG	1.73
175	Hailey-hailey disease	Enrichment	ATP2C1	1.73
176	Nail disorder, nonsyndromic congenital, 3	Enrichment	PLCD1	1.73
177	Thanatophoric dysplasia, type ii	Enrichment	FGFR3	1.73
178	Noonan syndrome 9	Enrichment	SOS2	1.73
179	Hypogonadotropic hypogonadism 20 with or without anosmia	Enrichment	FGF17	1.73
180	Ciliary dyskinesia, primary, 33	Enrichment	DRC4	1.73
181	Neurodevelopmental disorder with involuntary movements	Enrichment	GNAO1	1.73
182	Episodic ataxia, type 5	Enrichment	CACNB4	1.73
183	Camptodactyly, tall stature, and hearing loss syndrome	Enrichment	FGFR3	1.73
184	Ataxia-oculomotor apraxia 3	Enrichment	PIK3R5	1.73
185	Hypogonadotropic hypogonadism 23 with or without anosmia	Enrichment	LHB	1.73
186	Agammaglobulinemia 3, autosomal recessive	Enrichment	CD79A	1.73
187	Aplasia of lacrimal and salivary glands	Enrichment	FGF10	1.73
188	Bent bone dysplasia syndrome 1	Enrichment	FGFR2	1.73
189	Ventricular tachycardia, familial	Enrichment	GNAI2	1.73
190	Weill-marchesani syndrome 3	Enrichment	LTBP2	1.73
191	Acth-independent macronodular adrenal hyperplasia 1	Enrichment	GNAS	1.73
192	Neurodevelopmental disorder with hypotonia and dysmorphic facies	Enrichment	GNB2	1.73
193	Spondylometaphyseal dysplasia with corneal dystrophy	Enrichment	PLCB3	1.73
194	Immunodeficiency 81	Enrichment	LCP2	1.73
195	Immunodeficiency 82 with systemic inflammation	Enrichment	SYK	1.73
196	Multiple synostoses syndrome 4	Enrichment	GDF6	1.73
197	Intellectual developmental disorder, x-linked 110	Enrichment	FGF13	1.73
198	Pituitary adenoma 3, multiple types	Enrichment	GNAS	1.73
199	Spinocerebellar ataxia 27b, late-onset	Enrichment	FGF14	1.73
200	Charcot-marie-tooth disease, demyelinating, type 1j	Enrichment	ITPR3	1.73
201	Neurodevelopmental disorder with speech impairment and with or without seizures	Enrichment	CACNA1I	1.73
202	Intellectual developmental disorder, autosomal recessive 63	Enrichment	CAMK2A	1.73
203	Auriculocondylar syndrome 4	Enrichment	HDAC9	1.73
204	Congenital myopathy 18	Enrichment	CACNA1S	1.73
205	Developmental and epileptic encephalopathy 91	Enrichment	PPP3CA	1.73
206	Intellectual developmental disorder, autosomal dominant 54	Enrichment	CAMK2B	1.73
207	Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development	Enrichment	PPP3CA	1.73
208	Hyperemesis gravidarum	Enrichment	GDF15	1.73
209	Amegakaryocytic thrombocytopenia, congenital, 2	Enrichment	THPO	1.73
210	Deafness, autosomal recessive 125	Enrichment	GAS2	1.73
211	Immunodeficiency 48	Enrichment	ZAP70	1.73
212	Short syndrome	Enrichment	PIK3R1	1.73
213	Hereditary lymphedema id	Enrichment	VEGFC	1.73
214	Immune dysregulation, autoimmunity, and autoinflammation	Enrichment	PLCG1	1.73
215	Osteofibrous dysplasia	Enrichment	MET	1.73
216	Microphthalmia, syndromic 6	Enrichment	BMP4	1.73
217	Thrombocytopenia 3	Enrichment	FYB1	1.73
218	Auriculocondylar syndrome 2a	Enrichment	PLCB4	1.73
219	Cone-rod dystrophy, x-linked, 3	Enrichment	CACNA1F	1.73
220	Isolated growth hormone deficiency type iii	Enrichment	BTK	1.73
221	Retinal cone dystrophy 4	Enrichment	CACNA2D4	1.73
222	Developmental and epileptic encephalopathy 90	Enrichment	FGF13	1.73
223	Orofacial cleft 11	Enrichment	BMP4	1.73
224	Metacarpal 4-5 fusion	Enrichment	FGF16	1.73
225	Immunodeficiency 18	Enrichment	CD3E	1.73
226	Lymphatic malformation 4	Enrichment	VEGFC	1.73
227	Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language	Enrichment	MEF2C	1.73
228	Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities	Enrichment	GNAI1	1.73
229	Papillary tumor of the pineal region	Enrichment	PTEN	1.73
230	Lacrimoauriculodentodigital syndrome 3	Enrichment	FGF10	1.73
231	Familial isolated trichomegaly	Enrichment	FGF5	1.73
232	Developmental and epileptic encephalopathy 17	Enrichment	GNAO1	1.73
233	Primary aldosteronism, seizures, and neurologic abnormalities	Enrichment	CACNA1D	1.73
234	Deafness, autosomal recessive 97	Enrichment	MET	1.73
235	Immunodeficiency 25	Enrichment	CD247	1.73
236	Skin/hair/eye pigmentation, variation in, 7	Enrichment	KITLG	1.73
237	Lodder-merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia	Enrichment	GNB5	1.73
238	Brugada syndrome 3	Enrichment	CACNA1C	1.73
239	Epilepsy, childhood absence 6	Enrichment	CACNA1H	1.73
240	Crouzon syndrome with acanthosis nigricans	Enrichment	FGFR3	1.73
241	Camurati-engelmann disease 2	Enrichment	TGFB2	1.73
242	Malignant hyperthermia 5	Enrichment	CACNA1S	1.73
243	Geleophysic dysplasia 3	Enrichment	LTBP3	1.73
244	Coronary artery disease, autosomal dominant, 1	Enrichment	MEF2A	1.73
245	Lymphoproliferative syndrome 1	Enrichment	ITK	1.73
246	Autism 9	Enrichment	MET	1.73
247	Night blindness, congenital stationary, autosomal dominant 3	Enrichment	GNAT1	1.73
248	Glaucoma 1, open angle, o	Enrichment	NTF4	1.73
249	Intellectual developmental disorder, autosomal dominant 10	Enrichment	CACNG2	1.73
250	Iron overload	Enrichment	BMP6	1.73
251	Sinoatrial node dysfunction and deafness	Enrichment	CACNA1D	1.73
252	Dystonia 25	Enrichment	GNAL	1.73
253	Immunodeficiency 36 with lymphoproliferation	Enrichment	PIK3R1	1.73
254	Hypogonadotropic hypogonadism 12 with or without anosmia	Enrichment	GNRH1	1.73
255	Autoinflammation, antibody deficiency, and immune dysregulation	Enrichment	PLCG2	1.73
256	Night blindness, congenital stationary, type 1g	Enrichment	GNAT1	1.73
257	Hypogonadotropic hypogonadism 16 with or without anosmia	Enrichment	SEMA3A	1.73
258	Leber congenital amaurosis 17	Enrichment	GDF6	1.73
259	Long qt syndrome 16	Enrichment	CALM3	1.73
260	Hypocalcemia, autosomal dominant 2	Enrichment	GNA11	1.73
261	Telangiectasia, hereditary hemorrhagic, type 5	Enrichment	GDF2	1.73
262	Hereditary thrombocytosis with transverse limb defect	Enrichment	THPO	1.73
263	Immunodeficiency, common variable, 3	Enrichment	CD19	1.73
264	Charcot-marie-tooth disease, dominant intermediate f	Enrichment	GNB4	1.73
265	Agammaglobulinemia 7, autosomal recessive	Enrichment	PIK3R1	1.73
266	Hypogonadotropic hypogonadism 6 with or without anosmia	Enrichment	FGF8	1.73
267	Spinocerebellar ataxia 42	Enrichment	CACNA1G	1.73
268	Developmental and epileptic encephalopathy 110	Enrichment	CACNA2D1	1.73
269	Disorders of gnas inactivation	Enrichment	GNAS	1.73
270	Glioma susceptibility 2	Enrichment	PTEN	1.73
271	Achondroplasia, severe, with developmental delay and acanthosis nigricans	Enrichment	FGFR3	1.73
272	Familial cold autoinflammatory syndrome 3	Enrichment	PLCG2	1.73
273	Autoimmune disease, multisystem, infantile-onset, 2	Enrichment	ZAP70	1.73
274	Tumoral calcinosis, hyperphosphatemic, familial, 2	Enrichment	FGF23	1.73
275	Hartsfield syndrome	Enrichment	FGFR1	1.73
276	Congenital heart defects, multiple types, 7	Enrichment	FLT4	1.73
277	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits	Enrichment	CACNA1G	1.73
278	Loeys-dietz syndrome 5	Enrichment	TGFB3	1.73
279	Renal hypodysplasia/aplasia 2	Enrichment	FGF20	1.73
280	Developmental and epileptic encephalopathy 69	Enrichment	CACNA1E	1.73
281	20p12.3 microdeletion syndrome	Enrichment	BMP2	1.73
282	Cutis laxa, autosomal recessive, type iie	Enrichment	LTBP1	1.73
283	Intellectual developmental disorder, autosomal dominant 42	Enrichment	GNB1	1.73
284	Hyperaldosteronism, familial, type iv	Enrichment	CACNA1H	1.73
285	Congenital autosomal recessive small-platelet thrombocytopenia	Enrichment	FYB1	1.73
286	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1	Enrichment	BMP2	1.73
287	Sick sinus syndrome 4	Enrichment	GNB2	1.73
288	Menke-hennekam syndrome 1	Enrichment	CREBBP	1.73
289	Developmental and epileptic encephalopathy 47	Enrichment	FGF12	1.73
290	Intellectual developmental disorder, autosomal dominant 53	Enrichment	CAMK2A	1.73
291	Premature ovarian failure 14	Enrichment	GDF9	1.73
292	Auriculocondylar syndrome 2b	Enrichment	PLCB4	1.73
293	Tufted angioma of skin	Enrichment	KDR	1.73
294	Intellectual developmental disorder, autosomal dominant 59	Enrichment	CAMK2G	1.73
295	Deafness, autosomal dominant 69	Enrichment	KITLG	1.73
296	Immunodeficiency 19, severe combined	Enrichment	CD3D	1.73
297	Thrombocytopenia 9	Enrichment	THPO	1.73
298	Arthrogryposis, distal, type 11	Enrichment	MET	1.73
299	Lacrimoauriculodentodigital syndrome 2	Enrichment	FGFR3	1.73
300	Long qt syndrome 15	Enrichment	CALM2	1.73
301	Short-rib thoracic dysplasia 22 without polydactyly	Enrichment	FGF4	1.73
302	Rubinstein-taybi syndrome due to 16p13.3 microdeletion	Enrichment	CREBBP	1.73
303	Glaucoma secondary to spherophakia/ectopia lentis and megalocornea	Enrichment	LTBP2	1.73
304	Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy	Enrichment	ITPR3	1.73
305	Colitis	Enrichment	SYK	1.73
306	5q14.3 microdeletion syndrome	Enrichment	MEF2C	1.73
307	Conn's syndrome	Enrichment	CACNA1H	1.73
308	Spinocerebellar ataxia type 27b	Enrichment	FGF14	1.73
309	Complete atrioventricular septal defect without ventricular hypoplasia	Enrichment	MEF2C	1.73
310	Fgfr3-related chondrodysplasia	Enrichment	FGFR3	1.73
311	Agammaglobulinemia 3	Enrichment	CD79A	1.73
312	Sporadic hemiplegic migraine	Enrichment	CACNA1A	1.73
313	Congenital primary lymphedema of gordon	Enrichment	VEGFC	1.73
314	Atypical timothy syndrome	Enrichment	CACNA1C	1.73
315	Camptodactyly-tall stature-scoliosis-hearing loss syndrome	Enrichment	FGFR3	1.73
316	Aldosterone-producing adenoma with seizures and neurological abnormalities	Enrichment	CACNA1D	1.73
317	Immunodeficiency 19	Enrichment	CD3D	1.73
318	Menke-hennekam syndrome	Enrichment	CREBBP	1.73
319	Familial progressive hyperpigmentation	Enrichment	KITLG	1.73
320	Monostotic fibrous dysplasia	Enrichment	GNAS	1.73
321	Timothy syndrome type 2	Enrichment	CACNA1C	1.73
322	Gnao1-related disorder	Enrichment	GNAO1	1.73
323	Phakomatosis pigmentokeratotica	Enrichment	HRAS	1.73
324	Mef2c-related disorder	Enrichment	MEF2C	1.73
325	Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome	Enrichment	PTEN	1.73
326	Periodic paralysis with transient compartment-like syndrome	Enrichment	CACNA1S	1.73
327	Phakomatosis cesiomarmorata	Enrichment	GNA11	1.73
328	Hartsfield-bixler-demyer syndrome	Enrichment	FGFR1	1.73
329	Kaposiform hemangioendothelioma	Enrichment	GNA14	1.73
330	Mazabraud syndrome	Enrichment	GNAS	1.73
331	Timothy syndrome type 1	Enrichment	CACNA1C	1.73
332	Egf-related primary hypomagnesemia with intellectual disability	Enrichment	EGF	1.73
333	Non-syndromic unicoronal craniosynostosis	Enrichment	FGFR2	1.73
334	Familial progressive hyper- and hypopigmentation	Enrichment	KITLG	1.73
335	Interstitial lung disease specific to childhood	Enrichment	FGF10	1.73
336	Zap70-related severe combined immunodeficiency	Enrichment	ZAP70	1.73
337	Cacna1c-related disorders	Enrichment	CACNA1C	1.73
338	Benign paroxysmal torticollis of infancy	Enrichment	CACNA1A	1.73
339	Hypertension and brachydactyly syndrome	Enrichment	PDE3A	1.70
340	Premature aging syndrome, penttinen type	Enrichment	PDGFRB	1.70
341	Type 1 diabetes mellitus 10	Enrichment	IL2RA	1.70
342	Developmental and epileptic encephalopathy 8	Enrichment	ARHGEF9	1.70
343	Noonan syndrome 5	Enrichment	RAF1	1.70
344	Hypereosinophilic syndrome, idiopathic	Enrichment	PDGFRA	1.70
345	Immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis	Enrichment	RAC2	1.70
346	Mastocytosis, cutaneous	Enrichment	KIT	1.70
347	Melorheostosis, isolated	Enrichment	MAP2K1	1.70
348	Cardiomyopathy, dilated, 1nn	Enrichment	RAF1	1.70
349	Multiple self-healing squamous epithelioma	Enrichment	TGFBR1	1.70
350	Cardiofaciocutaneous syndrome 3	Enrichment	MAP2K1	1.70
351	Myofibromatosis, infantile, 1	Enrichment	PDGFRB	1.70
352	Dyskinesia with orofacial involvement, autosomal dominant	Enrichment	ADCY5	1.70
353	Deafness, autosomal recessive 44	Enrichment	ADCY1	1.70
354	Gist-plus syndrome	Enrichment	PDGFRA	1.70
355	Autoimmune lymphoproliferative syndrome, type iii	Enrichment	PRKCD	1.70
356	Immunodeficiency 62	Enrichment	ARHGEF1	1.70
357	Noonan syndrome 13	Enrichment	MAPK1	1.70
358	Neurodevelopmental disorder with midbrain and hindbrain malformations	Enrichment	ARHGEF2	1.70
359	Developmental and epileptic encephalopathy 58	Enrichment	NTRK2	1.70
360	Neurodevelopmental disorder with hyperkinetic movements and dyskinesia	Enrichment	ADCY5	1.70
361	Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies	Enrichment	RAC3	1.70
362	Intellectual developmental disorder, x-linked 46	Enrichment	ARHGEF6	1.70
363	Myeloid and lymphoid neoplasms associated with pdgfra rearrangement	Enrichment	PDGFRA	1.70
364	Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia	Enrichment	RAC2	1.70
365	Intellectual developmental disorder with paroxysmal dyskinesia or seizures	Enrichment	PDE2A	1.70
366	Slowed nerve conduction velocity, autosomal dominant	Enrichment	ARHGEF10	1.70
367	Dyskinesia with orofacial involvement, autosomal recessive	Enrichment	ADCY5	1.70
368	Spinocerebellar ataxia 14	Enrichment	PRKCG	1.70
369	Melorheostosis	Enrichment	MAP2K1	1.70
370	Leopard syndrome 2	Enrichment	RAF1	1.70
371	Basal ganglia calcification, idiopathic, 4	Enrichment	PDGFRB	1.70
372	Cardiofaciocutaneous syndrome 4	Enrichment	MAP2K2	1.70
373	Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies	Enrichment	RAP1B	1.70
374	Myeloid and lymphoid neoplasms associated with pdgfrb rearrangement	Enrichment	PDGFRB	1.70
375	Obesity, hyperphagia, and developmental delay	Enrichment	NTRK2	1.70
376	Kosaki overgrowth syndrome	Enrichment	PDGFRB	1.70
377	Congenital heart defects and ectodermal dysplasia	Enrichment	PRKD1	1.70
378	Thrombocytopenia 6	Enrichment	SRC	1.70
379	Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies	Enrichment	RHOA	1.70
380	Noonan syndrome-like disorder with loose anagen hair 2	Enrichment	PPP1CB	1.70
381	Deafness, autosomal dominant 74	Enrichment	PDE1C	1.70
382	Ocular pterygium-digital keloid dysplasia syndrome	Enrichment	PDGFRB	1.70
383	Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies	Enrichment	RHOA	1.70
384	Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia	Enrichment	RAC2	1.70
385	Chronic mast cell leukemia	Enrichment	KIT	1.70
386	Trigonitis	Enrichment	RAF1	1.70
387	Immunodeficiency 129	Enrichment	RHOH	1.70
388	T-cell immunodeficiency with epidermodysplasia verruciformis	Enrichment	RHOH	1.70
389	Isolated bone marrow mastocytosis	Enrichment	KIT	1.70
390	Smoldering systemic mastocytosis	Enrichment	KIT	1.70
391	Infantile lad-like disease due to rac2 deficiency	Enrichment	RAC2	1.70
392	Reticular dysgenesis-like severe combined immunodeficiency	Enrichment	RAC2	1.70
393	Mastocytosis	Enrichment	KIT	1.70
394	Cutaneous mastocytoma	Enrichment	KIT	1.70
395	Typical urticaria pigmentosa	Enrichment	KIT	1.70
396	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom	Enrichment	RAC1	1.70
397	Nodular urticaria pigmentosa	Enrichment	KIT	1.70
398	Malignant epithelial tumor of salivary glands	Enrichment	PRKD1	1.70
399	Pseudoxanthomatous diffuse cutaneous mastocytosis	Enrichment	KIT	1.70
400	Telangiectasia macularis eruptiva perstans	Enrichment	KIT	1.70
401	Acute mast cell leukemia	Enrichment	KIT	1.70
402	Rac2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome	Enrichment	RAC2	1.70
403	Plaque-form urticaria pigmentosa	Enrichment	KIT	1.70
404	Bullous diffuse cutaneous mastocytosis	Enrichment	KIT	1.70
405	Testis seminoma	Enrichment	KIT	1.70
406	Renal hypodysplasia/aplasia 3	Enrichment	BMP4, FGFR3	1.70
407	Meningioma	Enrichment	PDGFB, PTEN	1.70
408	Catecholaminergic polymorphic ventricular tachycardia 1	Enrichment	CALM1, RYR2	1.67
409	Proteus syndrome	Enrichment	AKT1	1.67
410	Acrodysostosis 1 with or without hormone resistance	Enrichment	PRKAR1A	1.67
411	Carney complex, type 1	Enrichment	PRKAR1A	1.67
412	Spinocerebellar ataxia, autosomal recessive 13	Enrichment	GRM1	1.67
413	Neurodevelopmental disorder with impaired language and ataxia and with or without seizures	Enrichment	GRIK2	1.67
414	Intellectual developmental disorder, x-linked, syndromic, wu type	Enrichment	GRIA3	1.67
415	Cardioacrofacial dysplasia 2	Enrichment	PRKACB	1.67
416	Myxoma, intracardiac	Enrichment	PRKAR1A	1.67
417	Intellectual developmental disorder, autosomal recessive 6	Enrichment	GRIK2	1.67
418	Spinocerebellar ataxia, autosomal recessive 18	Enrichment	GRID2	1.67
419	Cowden syndrome 6	Enrichment	AKT1	1.67
420	Neurodevelopmental disorder with language impairment and behavioral abnormalities	Enrichment	GRIA2	1.67
421	Pigmented nodular adrenocortical disease, primary, 4	Enrichment	PRKACA	1.67
422	Neurodevelopmental disorder with or without seizures and gait abnormalities	Enrichment	GRIA4	1.67
423	Cardioacrofacial dysplasia 1	Enrichment	PRKACA	1.67
424	Intellectual developmental disorder, autosomal dominant 67	Enrichment	GRIA1	1.67
425	Spinocerebellar ataxia 44	Enrichment	GRM1	1.67
426	Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities	Enrichment	GRM7	1.67
427	Intellectual developmental disorder, autosomal recessive 76	Enrichment	GRIA1	1.67
428	Syndromic x-linked intellectual disability 94	Enrichment	GRIA3	1.67
429	Prkar1b-related neurodegenerative dementia with intermediate filaments	Enrichment	PRKAR1B	1.67
430	Gria2-related neurodevelopmental disorder	Enrichment	GRIA2	1.67
431	Chondromyxoid fibroma	Enrichment	GRM1	1.67
432	Body mass index quantitative trait locus 11	Enrichment	ADCY3, BDNF, GNAS, GRIA4	1.66
433	Myeloma, multiple	Enrichment	CREBBP, FGFR3, FLT3, KRAS, MST1R	1.63
434	Hydrops fetalis	Enrichment	RYR1, RYR3	1.57
435	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	Enrichment	CHRNA3, CHRNA4, CSF1R, ERBB4, MEF2C	1.57
436	Leukemia, acute myeloid	Enrichment	FLT3, KIT, KRAS, NRAS	1.54
437	Primary ovarian insufficiency	Enrichment	BMP6, IGF2R, KDR, NTRK1	1.54
438	Lymphatic malformation 5	Enrichment	EPHB4	1.53
439	Metatropic dysplasia	Enrichment	TRPV4	1.53
440	Brachydactyly, type b1	Enrichment	ROR2	1.53
441	Erythroleukemia, familial	Enrichment	ERBB3	1.53
442	Paget disease, extramammary	Enrichment	ERBB2	1.53
443	Parastremmatic dwarfism	Enrichment	TRPV4	1.53
444	Donohue syndrome	Enrichment	INSR	1.53
445	Achromatopsia 2	Enrichment	CNGA3	1.53
446	Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary cakut	Enrichment	CHRNA3	1.53
447	Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia	Enrichment	HDAC6	1.53
448	Epilepsy, focal, with speech disorder and with or without impaired intellectual development	Enrichment	GRIN2A	1.53
449	Spondylometaphyseal dysplasia, kozlowski type	Enrichment	TRPV4	1.53
450	Oculoectodermal syndrome	Enrichment	KRAS	1.53
451	Intellectual developmental disorder, x-linked, syndromic, christianson type	Enrichment	SLC9A6	1.53
452	Hyperinsulinemic hypoglycemia, familial, 5	Enrichment	INSR	1.53
453	Deafness, autosomal dominant 41	Enrichment	P2RX2	1.53
454	Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities	Enrichment	INSR	1.53
455	Neuronopathy, distal hereditary motor, autosomal dominant 8	Enrichment	TRPV4	1.53
456	Diabetes mellitus, insulin-resistant, with acanthosis nigricans	Enrichment	INSR	1.53
457	Epilepsy, nocturnal frontal lobe, 4	Enrichment	CHRNA2	1.53
458	Neuroblastoma 3	Enrichment	ALK	1.53
459	Brachyolmia type 3	Enrichment	TRPV4	1.53
460	Sodium serum level quantitative trait locus 1	Enrichment	TRPV4	1.53
461	Focal segmental glomerulosclerosis 2	Enrichment	TRPC6	1.53
462	Lichtenstein-knorr syndrome	Enrichment	SLC9A1	1.53
463	Melanosis, neurocutaneous	Enrichment	NRAS	1.53
464	Spondyloepiphyseal dysplasia, maroteaux type	Enrichment	TRPV4	1.53
465	Lethal congenital contracture syndrome 2	Enrichment	ERBB3	1.53
466	Scapuloperoneal spinal muscular atrophy	Enrichment	TRPV4	1.53
467	Noonan syndrome 6	Enrichment	NRAS	1.53
468	Myasthenic syndrome, congenital, 3a, slow-channel	Enrichment	CHRND	1.53
469	Developmental and epileptic encephalopathy 27	Enrichment	GRIN2B	1.53
470	Avascular necrosis of femoral head, primary, 2	Enrichment	TRPV4	1.53
471	Spinocerebellar ataxia 41	Enrichment	TRPC3	1.53
472	Noonan syndrome 11	Enrichment	MRAS	1.53
473	Visceral neuropathy, familial, 2, autosomal recessive	Enrichment	ERBB2	1.53
474	Deafness, autosomal recessive 108	Enrichment	ROR1	1.53
475	Intellectual developmental disorder, autosomal dominant 66	Enrichment	ATP2B1	1.53
476	Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency	Enrichment	MUSK	1.53
477	Congenital myopathy 20	Enrichment	RYR3	1.53
478	Deafness, autosomal dominant 82	Enrichment	ATP2B2	1.53
479	Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures	Enrichment	TRPM3	1.53
480	Venous malformations, multiple cutaneous and mucosal	Enrichment	TEK	1.53
481	Cornelia de lange syndrome 5	Enrichment	HDAC8	1.53
482	Neurodegenerative disorder, x-linked, female-restricted, with parkinsonism and cognitive impairment	Enrichment	SLC9A6	1.53
483	Progressive familial heart block, type ib	Enrichment	TRPM4	1.53
484	Spondylometaepiphyseal dysplasia, short limb-hand type	Enrichment	DDR2	1.53
485	Erythrokeratodermia variabilis et progressiva 6	Enrichment	TRPM4	1.53
486	Night blindness, congenital stationary, type1i	Enrichment	GUCY2D	1.53
487	Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency	Enrichment	CHRND	1.53
488	Cardiofaciocutaneous syndrome 2	Enrichment	KRAS	1.53
489	Prostate cancer/brain cancer susceptibility	Enrichment	EPHB2	1.53
490	Myasthenic syndrome, congenital, 3b, fast-channel	Enrichment	CHRND	1.53
491	Skeletal dysplasia and progressive central nervous system degeneration, lethal	Enrichment	TRPV4	1.53
492	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive	Enrichment	GRIN1	1.53
493	Digital arthropathy-brachydactyly, familial	Enrichment	TRPV4	1.53
494	Intellectual developmental disorder, autosomal dominant 6, with or without seizures	Enrichment	GRIN2B	1.53
495	Periodic fever, menstrual cycle-dependent	Enrichment	HTR1A	1.53
496	Olmsted syndrome 1	Enrichment	TRPV3	1.53
497	Moyamoya disease 6 with or without achalasia	Enrichment	GUCY1A1	1.53
498	Amyotrophic lateral sclerosis 19	Enrichment	ERBB4	1.53
499	Nasopharyngeal carcinoma 3	Enrichment	MST1R	1.53
500	Hyperparathyroidism	Enrichment	TRPV6	1.53
501	Acute myeloid leukemia with minimal differentiation	Enrichment	FLT3	1.53
502	Developmental and epileptic encephalopathy 101	Enrichment	GRIN1	1.53
503	Retinitis pigmentosa 45	Enrichment	CNGB1	1.53
504	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant	Enrichment	GRIN1	1.53
505	Bleeding disorder, platelet-type, 22	Enrichment	EPHB2	1.53
506	Palmoplantar keratoderma, nonepidermolytic, focal 2	Enrichment	TRPV3	1.53
507	Glaucoma 3, primary congenital, e	Enrichment	TEK	1.53
508	Brain abnormalities, neurodegeneration, and dysosteosclerosis	Enrichment	CSF1R	1.53
509	Moyamoya disease with early-onset achalasia	Enrichment	GUCY1A1	1.53
510	Warburg-cinotti syndrome	Enrichment	DDR2	1.53
511	Hyperparathyroidism, transient neonatal	Enrichment	TRPV6	1.53
512	Congenital myopathy with myasthenic-like onset	Enrichment	RYR1	1.53
513	Csf1r-related disorder	Enrichment	CSF1R	1.53
514	Bockenheimer syndrome	Enrichment	TEK	1.53
515	Cataract 50 with or without glaucoma	Enrichment	TRPM3	1.53
516	Rhabdomyolysis 2	Enrichment	ATP2A2	1.53
517	Grin2b-related neurodevelopmental disorder	Enrichment	GRIN2B	1.53
518	Landau-kleffner syndrome	Enrichment	GRIN2A	1.53
519	Congenital pulmonary airway malformation	Enrichment	KRAS	1.53
520	Alk-positive anaplastic large cell lymphoma	Enrichment	ALK	1.53
521	Early-onset calcifying leukoencephalopathy-skeletal dysplasia	Enrichment	CSF1R	1.53
522	Intellectual disability, autosomal dominant 8	Enrichment	GRIN1	1.53
523	Early-onset epileptic encephalopathy and intellectual disability due to grin2a mutation	Enrichment	GRIN2A	1.53
524	Grin2a-related disorders	Enrichment	GRIN2A	1.53
525	Alk-positive large b-cell lymphoma	Enrichment	ALK	1.53
526	Calf-predominant weakness-gastrocnemius medialis atrophy-distal myopathy	Enrichment	RYR1	1.53
527	Inflammatory bowel disease-recurrent sinopulmonary infections syndrome	Enrichment	NFAT5	1.53
528	Serous carcinoma of the corpus uteri	Enrichment	ERBB2	1.53
529	Ephb4-related lymphatic-related hydrops fetalis	Enrichment	EPHB4	1.53
530	Neurocutaneous melanocytosis	Enrichment	NRAS	1.53
531	Vein of galen aneurysmal malformation	Enrichment	EPHB4	1.53
532	Trpv4-related bone disorder	Enrichment	TRPV4	1.53
533	Benign samaritan congenital myopathy	Enrichment	RYR1	1.53
534	Cleft lip/palate	Enrichment	BMP4, PDGFRA	1.52
535	Myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency	Enrichment	CHRNE, MUSK	1.48
536	Primary bone dysplasia	Enrichment	FGFR3, TRPV4	1.48
537	Hydrocephalus	Enrichment	FGFR2, PDGFRB	1.46
538	Rhabdomyosarcoma	Enrichment	HRAS, PTEN	1.46
539	Acromicric dysplasia	Enrichment	LTBP3	1.43
540	Spinocerebellar ataxia 29	Enrichment	ITPR1	1.43
541	Cri-du-chat syndrome	Enrichment	SEMA5A	1.43
542	Sorsby fundus dystrophy	Enrichment	TIMP3	1.43
543	Fibromatosis, gingival, 1	Enrichment	SOS1	1.43
544	Pseudohypoparathyroidism, type ia	Enrichment	GNAS	1.43
545	Camurati-engelmann disease 1	Enrichment	TGFB1	1.43
546	Costello syndrome	Enrichment	HRAS	1.43
547	Trichomegaly	Enrichment	FGF5	1.43
548	Pituitary adenoma 4, acth-secreting	Enrichment	GNAI2	1.43
549	Cutis marmorata telangiectatica congenita	Enrichment	GNA11	1.43
550	Thumb deformity	Enrichment	CREBBP	1.43
551	Kyphomelic dysplasia	Enrichment	CCN2	1.43
552	Omodysplasia 1	Enrichment	GPC6	1.43
553	Timothy syndrome	Enrichment	CACNA1C	1.43
554	Pulmonary hypoplasia, primary	Enrichment	FGF10	1.43
555	Night blindness, congenital stationary, type 2a	Enrichment	CACNA1F	1.43
556	Dermatofibrosarcoma protuberans	Enrichment	PDGFB	1.43
557	Cervical cancer	Enrichment	FGFR3	1.43
558	Pulmonic stenosis	Enrichment	SOS1	1.43
559	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	Enrichment	PIK3R5	1.43
560	Isolated growth hormone deficiency, type iii, with agammaglobulinemia	Enrichment	BTK	1.43
561	Histiocytoma, angiomatoid fibrous	Enrichment	CREB1	1.43
562	Parkinson disease 8, autosomal dominant	Enrichment	GDF6	1.43
563	Alternating hemiplegia of childhood 1	Enrichment	CACNA1A	1.43
564	Pseudopseudohypoparathyroidism	Enrichment	GNAS	1.43
565	Aural atresia, congenital	Enrichment	FGFR2	1.43
566	Agammaglobulinemia 6, autosomal recessive	Enrichment	CD79B	1.43
567	Ventricular tachycardia, catecholaminergic polymorphic, 4	Enrichment	CALM1	1.43
568	Keratosis, seborrheic	Enrichment	FGFR3	1.43
569	Multiple synostoses syndrome 2	Enrichment	GDF5	1.43
570	Myopathy, mitochondrial progressive, with congenital cataract and developmental delay	Enrichment	GFER	1.43
571	Cutis laxa, autosomal recessive, type ic	Enrichment	LTBP4	1.43
572	Silver-russell syndrome 3	Enrichment	IGF2	1.43
573	Osteogenesis imperfecta, type xiii	Enrichment	BMP1	1.43
574	Night blindness, congenital stationary, type 1h	Enrichment	GNB3	1.43
575	Spermatogenic failure 17	Enrichment	PLCZ1	1.43
576	Brachydactyly, type a1, c	Enrichment	GDF5	1.43
577	Long qt syndrome 14	Enrichment	CALM1	1.43
578	Symphalangism, proximal, 1b	Enrichment	GDF5	1.43
579	Antley-bixler syndrome without genital anomalies or disordered steroidogenesis	Enrichment	FGFR2	1.43
580	Spondyloepimetaphyseal dysplasia, li-shao-li type	Enrichment	CCN2	1.43
581	Long qt syndrome 8	Enrichment	CACNA1C	1.43
582	Waardenburg syndrome, type 2f	Enrichment	KITLG	1.43
583	Agammaglobulinemia, x-linked	Enrichment	BTK	1.43
584	Menke-hennekam syndrome 2	Enrichment	EP300	1.43
585	Inflammatory bowel disease, immunodeficiency, and encephalopathy	Enrichment	TGFB1	1.43
586	Kowarski syndrome	Enrichment	GH1	1.43
587	Childhood hepatocellular carcinoma	Enrichment	MET	1.43
588	Lymphoproliferative syndrome	Enrichment	ITK	1.43
589	Acute myeloid leukemia with kat6a-crebbp fusion	Enrichment	CREBBP	1.43
590	Split hand-foot malformation	Enrichment	FGFR2	1.43
591	Agammaglobulinemia 6	Enrichment	CD79B	1.43
592	Rosette-forming glioneuronal tumor	Enrichment	FGFR1	1.43
593	Autosomal dominant hypocalcemia	Enrichment	GNA11	1.43
594	Pseudohypoparathyroidism	Enrichment	GNAS	1.43
595	Papillary renal cell carcinoma	Enrichment	MET	1.43
596	Camurati-engelmann disease	Enrichment	TGFB1	1.43
597	Microphthalmia/coloboma 6	Enrichment	GDF6	1.43
598	Ocular melanoma	Enrichment	PLCB4	1.43
599	Immunodeficiency 17	Enrichment	CD3G	1.43
600	Cervix carcinoma	Enrichment	FGFR3	1.43
601	Hypopituitarism	Enrichment	GNAI2	1.43
602	Congenital disorder of glycosylation, type iw, autosomal dominant	Enrichment	CACNA1D	1.43
603	Lodder-merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia	Enrichment	GNB5	1.43
604	Proximal symphalangism	Enrichment	GDF5	1.43
605	Craniosynostosis 7	Enrichment	BMP2	1.43
606	Immunodeficiency 52	Enrichment	LAT	1.43
607	Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements	Enrichment	CACNA1B	1.43
608	Congenital amegakaryocytic thrombocytopenia	Enrichment	THPO	1.43
609	Interfrontal craniofaciosynostosis	Enrichment	FGFR1	1.43
610	Short stature due to growth hormone qualitative anomaly	Enrichment	GH1	1.43
611	Joint contractures, osteochondromas, and b-cell lymphoma	Enrichment	NFATC2	1.43
612	Common variable immunodeficiency phenotype due to cd19/cd81 deficiency	Enrichment	CD19	1.43
613	Autosomal dominant nonsyndromic deafness	Enrichment	FGFR2	1.43
614	Vacterl with hydrocephalus	Enrichment	PTEN	1.43
615	Growth delay due to insulin-like growth factor type 1 deficiency	Enrichment	IGF1	1.43
616	Arthritis	Enrichment	SYK	1.43
617	Acth-independent macronodular adrenal hyperplasia	Enrichment	GNAS	1.43
618	Juvenile polyposis of infancy	Enrichment	PTEN	1.43
619	Silver-russell syndrome due to an imprinting defect of 11p15	Enrichment	IGF2	1.43
620	Progressive bulbar palsy	Enrichment	CACNA1A	1.43
621	Phakomatosis cesioflammea	Enrichment	GNA11	1.43
622	Wooly hair nevus	Enrichment	HRAS	1.43
623	Silver-russell syndrome due to 11p15 microduplication	Enrichment	IGF2	1.43
624	Optic atrophy plus syndrome	Enrichment	CACNA1F, CNGA3, CNGB3, GUCY2D	1.41
625	Tetralogy of fallot	Enrichment	EPHB4, FLT4, KDR	1.41
626	Myeloproliferative disorder, chronic, with eosinophilia	Enrichment	PDGFRB	1.41
627	Insensitivity to pain, congenital, with anhidrosis	Enrichment	NTRK1	1.41
628	Immunodeficiency 41 with lymphoproliferation and autoimmunity	Enrichment	IL2RA	1.41
629	Vitamin d hydroxylation-deficient rickets, type 1b	Enrichment	PDE3B	1.41
630	Loeys-dietz syndrome 2	Enrichment	TGFBR1	1.41
631	Piebald trait	Enrichment	KIT	1.41
632	Lethal congenital contracture syndrome 8	Enrichment	ADCY6	1.41
633	Immunodeficiency, common variable, 12, with autoimmunity	Enrichment	NFKB1	1.41
634	Pain sensitivity quantitative trait locus 1	Enrichment	NTRK1	1.41
635	Genitourinary and/or brain malformation syndrome	Enrichment	PPP1R12A	1.41
636	Intellectual developmental disorder, autosomal dominant 48	Enrichment	RAC1	1.41
637	Infantile myofibromatosis	Enrichment	PDGFRB	1.41
638	Noonan syndrome-like disorder with loose anagen hair	Enrichment	PPP1CB	1.41
639	Congenital mesoblastic nephroma	Enrichment	NTRK3	1.41
640	Body mass index quantitative trait locus 19	Enrichment	ADCY3	1.41
641	Fibrosarcoma	Enrichment	NTRK3	1.41
642	Megacystis-microcolon-intestinal hypoperistalsis syndrome 4	Enrichment	MYL9	1.41
643	Chronic eosinophilic leukemia	Enrichment	PDGFRA	1.41
644	B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality	Enrichment	PDGFRA	1.41
645	B-lymphoblastic leukemia/lymphoma with t	Enrichment	KIT	1.41
646	Common variable immunodeficiency 12	Enrichment	NFKB1	1.41
647	Tafro syndrome	Enrichment	MAP2K2	1.41
648	Frontotemporal dementia 1	Enrichment	CHRNA4, CSF1R	1.41
649	Leukemia, acute lymphoblastic	Enrichment	FLT3, GNB1	1.41
650	Osteochondrodysplasia	Enrichment	FGFR3, TRPV4	1.41
651	Amelogenesis imperfecta, type ig	Enrichment	PRKAR1A	1.37
652	Spinocerebellar ataxia 17	Enrichment	TBP	1.37
653	Bleeding disorder, platelet-type, 19	Enrichment	PRKACG	1.37
654	Marbach-schaaf neurodevelopmental syndrome	Enrichment	PRKAR1B	1.37
655	Usher syndrome, type iv	Enrichment	PRKAR1A	1.37
656	Acrodysostosis	Enrichment	PRKAR1A	1.37
657	Fibrolamellar carcinoma	Enrichment	PRKACA	1.37
658	Ciliary dyskinesia, primary, 18	Enrichment	PRKAR1B	1.37
659	Isolated primary pigmented nodular adrenocortical disease	Enrichment	PRKAR1A	1.37
660	Dandy-walker syndrome	Enrichment	PDGFRB, PPP1CB	1.36
661	Cardiac conduction defect	Enrichment	CACNA1C, RYR2	1.33
662	Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant	Enrichment	RYR2, TGFB3	1.33
663	Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant	Enrichment	RYR2, TGFB3	1.33
664	Breast cancer	Enrichment	CACNA2D1, GNG3, IL2, PTEN	1.29
665	Hirschsprung disease 1	Enrichment	ERBB2, ERBB3, NRG3	1.29
666	Brachydactyly, type a1	Enrichment	GDF5	1.26
667	Achondroplasia	Enrichment	FGFR3	1.26
668	Mccune-albright syndrome	Enrichment	GNAS	1.26
669	Brachydactyly, type c	Enrichment	GDF5	1.26
670	Van der woude syndrome 1	Enrichment	CACNA1E	1.26
671	Hypogonadotropic hypogonadism 2 with or without anosmia	Enrichment	FGFR1	1.26
672	Larsen syndrome	Enrichment	FGFR3	1.26
673	Klippel-feil syndrome 1, autosomal dominant	Enrichment	GDF6	1.26
674	Exfoliation syndrome	Enrichment	LTBP2	1.26
675	Tumoral calcinosis, hyperphosphatemic, familial, 1	Enrichment	FGF23	1.26
676	Acromesomelic dysplasia 2a	Enrichment	GDF5	1.26
677	Thrombocythemia 1	Enrichment	THPO	1.26
678	Hypophosphatemic rickets, autosomal dominant	Enrichment	FGF23	1.26
679	Acromesomelic dysplasia 2c	Enrichment	GDF5	1.26
680	Acromesomelic dysplasia 2b	Enrichment	GDF5	1.26
681	Gillespie syndrome	Enrichment	ITPR1	1.26
682	Agammaglobulinemia 1, autosomal recessive	Enrichment	BTK	1.26
683	Nuchal bleb, familial	Enrichment	SOS1	1.26
684	Muscular dystrophy, duchenne type	Enrichment	LTBP4	1.26
685	Transposition of the great arteries, dextro-looped	Enrichment	BMP2	1.26
686	Nephrotic syndrome, type 3	Enrichment	PLCE1	1.26
687	Chromosome 8p11 myeloproliferative syndrome	Enrichment	FGFR1	1.26
688	Dyskeratosis congenita, autosomal dominant 6	Enrichment	THPO	1.26
689	Neonatal nephrocutaneous inflammatory syndrome	Enrichment	EGFR	1.26
690	Immunodeficiency 14a with lymphoproliferation, autosomal dominant	Enrichment	PIK3R1	1.26
691	Weill-marchesani syndrome 1	Enrichment	LTBP2	1.26
692	Agammaglobulinemia 1	Enrichment	BTK	1.26
693	Tethered spinal cord syndrome	Enrichment	CREBBP	1.26
694	Autosomal recessive cutis laxa type i	Enrichment	LTBP1	1.26
695	Isolated growth hormone deficiency, type ib	Enrichment	GH1	1.26
696	Hamartoma	Enrichment	FGFR3	1.26
697	Immunodeficiency 14	Enrichment	PIK3R1	1.26
698	Intraocular pressure quantitative trait locus	Enrichment	CREBBP	1.26
699	Laryngeal squamous cell carcinoma	Enrichment	PTEN	1.26
700	Cushing syndrome due to bilateral macronodular adrenocortical disease	Enrichment	GNAS	1.26
701	High bone mass osteogenesis imperfecta	Enrichment	BMP1	1.26
702	Neonatal inflammatory skin and bowel disease	Enrichment	EGFR	1.26
703	Melanoma of soft tissue	Enrichment	CREB1	1.26
704	Geleophysic dysplasia	Enrichment	LTBP3	1.26
705	Thyrotoxic periodic paralysis	Enrichment	CACNA1S	1.26
706	Renal cell carcinoma	Enrichment	MET	1.26
707	Testicular cancer	Enrichment	FGFR3	1.26
708	Isolated klippel-feil syndrome	Enrichment	GDF6	1.26
709	Beckwith-wiedemann syndrome due to imprinting defect of 11p15	Enrichment	IGF2	1.26
710	Hereditary episodic ataxia	Enrichment	CACNA1A	1.26
711	Familial thoracic aortic aneurysm and aortic dissection	Enrichment	TGFB2, TGFB3, TGFBR1	1.25
712	Early infantile developmental and epileptic encephalopathy	Enrichment	GNAO1, GRM7	1.25
713	Endometrial cancer	Enrichment	FGFR2, PTEN	1.24
714	Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1	Enrichment	TRPM7	1.24
715	Malignant hyperthermia 1	Enrichment	RYR1	1.24
716	Blue rubber bleb nevus	Enrichment	TEK	1.24
717	Acrokeratosis verruciformis	Enrichment	ATP2A2	1.24
718	Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome	Enrichment	RYR2	1.24
719	Hyperphenylalaninemia, bh4-deficient, c	Enrichment	QDPR	1.24
720	Visceral neuropathy, familial, 1, autosomal recessive	Enrichment	ERBB3	1.24
721	Hyperparathyroidism, neonatal severe	Enrichment	TRPV6	1.24
722	Spinocerebellar ataxia, x-linked 1	Enrichment	ATP2B3	1.24
723	Brody disease	Enrichment	ATP2A1	1.24
724	Spinocerebellar ataxia, x-linked 5	Enrichment	ATP2B3	1.24
725	Hereditary motor and sensory neuropathy, type iic	Enrichment	TRPV4	1.24
726	Hyperinsulinemic hypoglycemia, familial, 4	Enrichment	INSR	1.24
727	Obsessive-compulsive disorder	Enrichment	HTR2A	1.24
728	Birk-barel syndrome	Enrichment	TRPM3	1.24
729	Duodenal atresia	Enrichment	GUCY2C	1.24
730	Retinal dystrophy and iris coloboma with or without cataract	Enrichment	TRPM3	1.24
731	Epiphyseal chondrodysplasia, miura type	Enrichment	NPR2	1.24
732	Syndactyly, type iii	Enrichment	HDAC8	1.24
733	Palmoplantar keratoderma, nonepidermolytic, focal 1	Enrichment	TRPV3	1.24
734	Diarrhea 8, secretory sodium, congenital	Enrichment	SLC9A3	1.24
735	Lymphatic malformation 11	Enrichment	TIE1	1.24
736	Noonan syndrome 12	Enrichment	RRAS2	1.24
737	Retinitis pigmentosa 49	Enrichment	CNGA1	1.24
738	Wilson-turner syndrome	Enrichment	HDAC8	1.24
739	Bilateral generalized polymicrogyria	Enrichment	GRIN1	1.24
740	Intellectual developmental disorder, autosomal dominant 21	Enrichment	GRIN2A	1.24
741	Ventricular tachycardia, catecholaminergic polymorphic, 2	Enrichment	RYR2	1.24
742	Developmental and epileptic encephalopathy 46	Enrichment	GRIN2D	1.24
743	King-denborough syndrome	Enrichment	RYR1	1.24
744	Chromosome 15q13.3 deletion syndrome	Enrichment	CHRNA7	1.24
745	Acromesomelic dysplasia 1	Enrichment	NPR2	1.24
746	Diarrhea 6	Enrichment	GUCY2C	1.24
747	Familial avascular necrosis of the femoral head	Enrichment	TRPV4	1.24
748	Retinitis pigmentosa 38	Enrichment	MERTK	1.24
749	Acute myeloid leukemia without maturation	Enrichment	FLT3	1.24
750	Exercise-induced malignant hyperthermia	Enrichment	RYR1	1.24
751	Congenital diarrhea 6	Enrichment	GUCY2C	1.24
752	Dental caries	Enrichment	ATP2B3	1.24
753	Intestinal obstruction in the newborn due to guanylate cyclase 2c deficiency	Enrichment	GUCY2C	1.24
754	Rolandic epilepsy-speech dyspraxia syndrome	Enrichment	GRIN2A	1.24
755	Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)	Enrichment	FLT3	1.24
756	Epilepsy-aphasia spectrum	Enrichment	GRIN2A	1.24
757	Thyroid carcinoma, familial medullary	Enrichment	NTRK1	1.24
758	Vitamin d hydroxylation-deficient rickets, type 1a	Enrichment	PDE3B	1.24
759	Langerhans cell histiocytosis	Enrichment	MAP2K1	1.24
760	Loeys-dietz syndrome 1	Enrichment	TGFBR1	1.24
761	Growth delay due to insulin-like growth factor i resistance	Enrichment	IGF1R	1.24
762	Hypomyelination neuropathy-arthrogryposis syndrome	Enrichment	ADCY6	1.24
763	Congenital myasthenic syndrome	Enrichment	CHRNA1, CHRNE	1.21
764	Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant	Enrichment	RYR2, TGFB3	1.21
765	Tooth agenesis	Enrichment	FGFR1, TGFA	1.21
766	Night blindness, congenital stationary, type 1b	Enrichment	GRM6	1.20
767	Spastic ataxia	Enrichment	ATP2B3, CACNA1G, CACNB4, ITPR1	1.16
768	Hepatocellular carcinoma	Enrichment	IGF2R, MET	1.16
769	Kaposi sarcoma	Enrichment	IL6	1.14
770	Migraine, familial hemiplegic, 1	Enrichment	CACNA1A	1.14
771	Isolated growth hormone deficiency, type ii	Enrichment	GH1	1.14
772	Spinocerebellar ataxia 6	Enrichment	CACNA1A	1.14
773	Spastic paraplegia 17, autosomal dominant	Enrichment	GNG3	1.14
774	Pseudohypoparathyroidism, type ib	Enrichment	GNAS	1.14
775	Microtia-anotia	Enrichment	BMP5	1.14
776	Aland island eye disease	Enrichment	CACNA1F	1.14
777	Developmental and epileptic encephalopathy 2	Enrichment	CACNA1A	1.14
778	Lipodystrophy, congenital generalized, type 2	Enrichment	GNG3	1.14
779	Megalencephaly-capillary malformation-polymicrogyria syndrome	Enrichment	PIK3R2	1.14
780	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Enrichment	PIK3R2	1.14
781	Spinocerebellar ataxia 15	Enrichment	ITPR1	1.14
782	Developmental and epileptic encephalopathy 12	Enrichment	PLCB1	1.14
783	Developmental and epileptic encephalopathy 42	Enrichment	CACNA1A	1.14
784	Cerebellar atrophy with seizures and variable developmental delay	Enrichment	CACNA2D2	1.14
785	Developmental and epileptic encephalopathy 52	Enrichment	CACNA1A	1.14
786	Weill-marchesani syndrome	Enrichment	LTBP2	1.14
787	Epidermolytic nevus	Enrichment	HRAS	1.14
788	Episodic ataxia	Enrichment	CACNA1A	1.14
789	Familial or sporadic hemiplegic migraine	Enrichment	CACNA1A	1.14
790	Silver-russell syndrome due to a point mutation	Enrichment	IGF2	1.14
791	Non-syndromic bicoronal craniosynostosis	Enrichment	FGFR3	1.14
792	Systemic-onset juvenile idiopathic arthritis	Enrichment	IL6	1.14
793	Gingival fibromatosis	Enrichment	SOS1	1.14
794	Male infertility due to gonadal dysgenesis or sperm disorder	Enrichment	SOS2	1.14
795	Familial sick sinus syndrome	Enrichment	GNB2	1.14
796	Chorea, benign hereditary	Enrichment	ADCY5	1.12
797	Neurofibromatosis-noonan syndrome	Enrichment	MAP2K2	1.12
798	Chromosome 22q11.2 deletion syndrome, distal	Enrichment	MAPK1	1.12
799	Hereditary ataxia	Enrichment	PRKCG	1.12
800	Aortic aneurysm	Enrichment	TGFBR1	1.12
801	Noonan syndrome with multiple lentigines	Enrichment	RAF1	1.12
802	Systemic mastocytosis with associated hematologic neoplasm	Enrichment	KIT	1.12
803	Arrhythmogenic right ventricular cardiomyopathy	Enrichment	RYR1, RYR2	1.11
804	Carney complex variant	Enrichment	PRKAR1A	1.08
805	Arrhythmogenic right ventricular dysplasia, familial, 10	Enrichment	PRKAR1A	1.08
806	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities	Enrichment	POLR2A	1.08
807	Darier-white disease	Enrichment	ATP2A2	1.07
808	Leukoencephalopathy, hereditary diffuse, with spheroids 1	Enrichment	CSF1R	1.07
809	Epilepsy, nocturnal frontal lobe, 1	Enrichment	CHRNA4	1.07
810	Stuve-wiedemann syndrome 1	Enrichment	LIFR	1.07
811	Multiple pterygium syndrome, escobar variant	Enrichment	CHRNG	1.07
812	Epilepsy, familial focal, with variable foci 2	Enrichment	NPR2	1.07
813	Lynch syndrome 5	Enrichment	RYR1	1.07
814	Auditory neuropathy and optic atrophy	Enrichment	GRIN2C	1.07
815	Primary polycythemia	Enrichment	EPOR	1.07
816	Mutilating palmoplantar keratoderma with periorificial keratotic plaques	Enrichment	TRPV3	1.07
817	Lymphatic malformation 7	Enrichment	EPHB4	1.07
818	Capillary malformation-arteriovenous malformation 2	Enrichment	EPHB4	1.07
819	Intellectual developmental disorder, autosomal dominant 30, with speech delay and behavioral abnormalities	Enrichment	ATP2B1	1.07
820	Muscular atrophy	Enrichment	ATP2B3	1.07
821	Polr3-related leukodystrophy	Enrichment	GUCY2D	1.07
822	Mixed phenotype acute leukemia with t	Enrichment	FLT3	1.07
823	Stüve-wiedemann syndrome	Enrichment	LIFR	1.07
824	Hyperphenylalaninemia due to tetrahydrobiopterin deficiency	Enrichment	QDPR	1.07
825	Strabismus	Enrichment	CACNA1A, GNB1	1.05
826	Capillary malformations, congenital	Enrichment	GNA11	1.05
827	Episodic ataxia, type 2	Enrichment	CACNA1A	1.05
828	Arrhythmogenic right ventricular dysplasia, familial, 1	Enrichment	TGFB3	1.05
829	Macrocephaly/autism syndrome	Enrichment	PTEN	1.05
830	Rheumatoid arthritis, systemic juvenile	Enrichment	IL6	1.05
831	Atrioventricular septal defect	Enrichment	BMP5	1.05
832	Rubinstein-taybi syndrome 2	Enrichment	EP300	1.05
833	Congenital heart defects, multiple types, 4	Enrichment	BMP7	1.05
834	Pre-eclampsia	Enrichment	FLT1	1.05
835	Amblyopia	Enrichment	CACNA1F	1.05
836	Cardiac arrest	Enrichment	CACNA2D1	1.05
837	Juvenile glaucoma	Enrichment	LTBP2	1.05
838	Hemangioma	Enrichment	PTEN	1.05
839	Arrhythmogenic right ventricular dysplasia 1	Enrichment	TGFB3	1.05
840	Acute megakaryocytic leukemia	Enrichment	PTEN	1.05
841	Hemimegalencephaly	Enrichment	PTEN	1.05
842	Congenital short qt syndrome	Enrichment	CACNA2D1	1.05
843	Diffuse cutaneous systemic sclerosis	Enrichment	CCN2	1.05
844	Cardiomyopathy, familial hypertrophic, 1	Enrichment	CACNA1C, RAF1	1.03
845	Convulsions, familial infantile, with paroxysmal choreoathetosis	Enrichment	PDE2A	1.02
846	Neuromuscular disease	Enrichment	RYR1, TRPV4	1.02
847	Glaucoma, primary open angle	Enrichment	LTBP2	0.97
848	Hypokalemic periodic paralysis, type 1	Enrichment	CACNA1S	0.97
849	Split-hand/foot malformation 1	Enrichment	FGFR2	0.97
850	Wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndrome	Enrichment	BDNF	0.97
851	Type 1 diabetes mellitus	Enrichment	IL6	0.97
852	Dental anomalies and short stature	Enrichment	LTBP3	0.97
853	Anterior segment dysgenesis 5	Enrichment	BMP4	0.97
854	Mitochondrial dna depletion syndrome 1	Enrichment	TYMP	0.97
855	Inflammatory bowel disease 25, autosomal recessive	Enrichment	TGFB1	0.97
856	Spinocerebellar ataxia, autosomal recessive 16	Enrichment	ITPR1	0.97
857	Limited scleroderma	Enrichment	CCN2	0.97
858	Il10-related early-onset inflammatory bowel disease	Enrichment	TGFB1	0.97
859	Hypertrichosis	Enrichment	CREBBP	0.97
860	Childhood absence epilepsy	Enrichment	CACNA1H	0.97
861	Erythrocytosis, familial, 1	Enrichment	EPOR	0.95
862	Congenital myopathy 1a, autosomal dominant, with malignant hyperthermia	Enrichment	RYR1	0.95
863	Diffuse gastric and lobular breast cancer syndrome	Enrichment	KRAS	0.95
864	Mulibrey nanism	Enrichment	TRPM3	0.95
865	Myopathy, centronuclear, 2	Enrichment	RYR1	0.95
866	Sacral defect with anterior meningocele	Enrichment	RYR1	0.95
867	Astigmatism	Enrichment	GRIN2B	0.95
868	Amyotrophy, monomelic	Enrichment	RYR3	0.95
869	Cholangiocarcinoma	Enrichment	ROS1	0.95
870	Barrett esophagus	Enrichment	ERBB2	0.95
871	Bone mineral density quantitative trait locus 15	Enrichment	TRPV6	0.95
872	Meconium ileus	Enrichment	GUCY2C	0.95
873	Short stature with nonspecific skeletal abnormalities 1	Enrichment	NPR2	0.95
874	Tobacco addiction	Enrichment	CHRNA4	0.95
875	Intellectual developmental disorder, autosomal dominant 26	Enrichment	RYR1	0.95
876	Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1b	Enrichment	CHRNG	0.95
877	Autosomal dominant nocturnal frontal lobe epilepsy	Enrichment	CHRNA4	0.95
878	Lung sarcomatoid carcinoma	Enrichment	KRAS	0.95
879	Chronic myelomonocytic leukemia	Enrichment	FLT3	0.95
880	Color blindness	Enrichment	CNGA3	0.95
881	Congenital myopathy 1a	Enrichment	RYR1	0.95
882	Pilocytic astrocytoma	Enrichment	KRAS	0.95
883	Hereditary progressive cardiac conduction defect	Enrichment	TRPM4	0.95
884	Paroxysmal familial ventricular fibrillation	Enrichment	RYR2	0.95
885	Classic ehlers-danlos syndrome	Enrichment	TGFBR1	0.95
886	Focal segmental glomerulosclerosis	Enrichment	PLCE1, TRPC6	0.94
887	Benign epilepsy with centrotemporal spikes	Enrichment	GRIN1, GRIN2A, PLCB1	0.93
888	Rare autosomal recessive non-syndromic sensorineural deafness type dfnb	Enrichment	ADCY1, ATP2B2, HGF, MET, ROR1	0.93
889	Adrenocortical carcinoma	Enrichment	PRKAR1A	0.91
890	Breast adenocarcinoma	Enrichment	AKT1	0.91
891	Silver-russell syndrome 1	Enrichment	IGF2	0.91
892	Brugada syndrome 1	Enrichment	CACNA2D1	0.91
893	Waardenburg syndrome, type 2e	Enrichment	KITLG	0.91
894	Renal cell carcinoma, papillary, 1	Enrichment	MET	0.91
895	Brachydactyly	Enrichment	GNAS	0.91
896	Essential thrombocythemia	Enrichment	THPO	0.91
897	Hereditary hemorrhagic telangiectasia	Enrichment	GDF2	0.91
898	Oligoarticular juvenile idiopathic arthritis	Enrichment	CD247	0.91
899	Overgrowth syndrome	Enrichment	PIK3R1	0.91
900	Hypophosphatemic rickets	Enrichment	FGF23	0.91
901	Rheumatoid factor-negative juvenile idiopathic arthritis	Enrichment	CD247	0.91
902	Autosomal recessive non-syndromic intellectual disability	Enrichment	GRIA1, GRIK2, GRM7	0.89
903	Centralopathic epilepsy	Enrichment	GRIN1, GRIN2A, PLCB1	0.89
904	Gastric cancer	Enrichment	ERBB2, FGFR2, KRAS	0.89
905	Myelofibrosis	Enrichment	SRC	0.88
906	Common variable immunodeficiency	Enrichment	NFKB1	0.88
907	Paroxysmal dystonia	Enrichment	PDE2A	0.88
908	Cataract 6, multiple types	Enrichment	EPHA2	0.86
909	Choroidal dystrophy, central areolar, 1	Enrichment	GUCY2D	0.86
910	Congenital myopathy 1b, autosomal recessive	Enrichment	RYR1	0.86
911	3-methylglutaconic aciduria, type iii	Enrichment	GUCY2D	0.86
912	Robinow syndrome, autosomal recessive 1	Enrichment	ROR2	0.86
913	Major depressive disorder	Enrichment	HTR2A	0.86
914	Myasthenic syndrome, congenital, 4a, slow-channel	Enrichment	CHRNE	0.86
915	Myasthenic syndrome, congenital, 4b, fast-channel	Enrichment	CHRNE	0.86
916	Night blindness	Enrichment	TRPM1	0.86
917	Macular degeneration	Enrichment	CNGA3	0.86
918	Aniridia	Enrichment	EPHA2	0.86
919	Genetic motor neuron disease	Enrichment	TRPV4	0.86
920	Arthrogryposis, distal, type 1a	Enrichment	MET	0.86
921	Spastic paraplegia 4, autosomal dominant	Enrichment	GNAS	0.86
922	Isolated growth hormone deficiency, type ia	Enrichment	GH1	0.86
923	Mitochondrial dna depletion syndrome 4b	Enrichment	TYMP	0.86
924	Lennox-gastaut syndrome	Enrichment	CACNA1A	0.86
925	Alternating hemiplegia of childhood	Enrichment	CACNA1A	0.86
926	Hypothyroidism	Enrichment	GNB1	0.86
927	Difference of sex development	Enrichment	CACNA1A	0.86
928	Hereditary retinal dystrophy	Enrichment	CACNA1F, CACNA2D4, CNGA1, CNGA3, CNGB1, CNGB3, GNAT1, GNAT2, GUCY2D, MERTK, TIMP3, TRPM1	0.84
929	Fundus dystrophy	Enrichment	CACNA1F, CACNA2D4, CNGA1, CNGA3, CNGB1, CNGB3, GNAT1, GNAT2, GUCY2D, MERTK, TIMP3, TRPM1	0.84
930	Inherited cancer-predisposing syndrome	Enrichment	EGFR, KIT, MET, PDGFRA, PRKAR1A	0.81
931	Complex neurodevelopmental disorder	Enrichment	ATP2B1, CACNA1C, GNB2, GRIA4, GRIK2, GRIN2B	0.81
932	Orofacial cleft 1	Enrichment	FGF10	0.81
933	Nephrotic syndrome, type 1	Enrichment	PLCE1	0.81
934	Charge syndrome	Enrichment	EP300	0.81
935	Developmental and epileptic encephalopathy 14	Enrichment	PLCB1	0.81
936	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	Enrichment	CACNA1C	0.81
937	Adult hepatocellular carcinoma	Enrichment	EGF	0.81
938	Hypogonadotropic hypogonadism	Enrichment	FGFR1	0.81
939	Congenital central hypoventilation syndrome	Enrichment	BDNF	0.81
940	Cowden syndrome	Enrichment	PTEN	0.81
941	Mitochondrial neurogastrointestinal encephalomyopathy	Enrichment	TYMP	0.81
942	Renal agenesis, bilateral	Enrichment	FGF20	0.81
943	Myopathy, centronuclear, 1	Enrichment	RYR1	0.79
944	Hyperphenylalaninemia, bh4-deficient, a	Enrichment	QDPR	0.79
945	Pierre robin syndrome	Enrichment	ATP2B1	0.79
946	Moyamoya disease 1	Enrichment	GUCY1A1	0.79
947	Deafness, autosomal recessive 12	Enrichment	ATP2B2	0.79
948	Inflammatory myofibroblastic tumor	Enrichment	ALK	0.79
949	Autosomal recessive robinow syndrome	Enrichment	ROR2	0.79
950	Cryptorchidism, unilateral or bilateral	Enrichment	RXFP2	0.78
951	Developmental and epileptic encephalopathy 1	Enrichment	GNAO1, GRIN1	0.78
952	Retinitis pigmentosa	Enrichment	CACNA1F, CACNA2D4, CNGA1, CNGB1, CNGB3, GNAT1, GUCY2D, MERTK, TRPM6	0.77
953	Meier-gorlin syndrome 1	Enrichment	FGFR2	0.77
954	Peters-plus syndrome	Enrichment	BMP4	0.77
955	Stickler syndrome	Enrichment	BMP4	0.77
956	Melanoma	Enrichment	PTEN	0.77
957	Stroke, ischemic	Enrichment	PRKCH	0.74
958	Ciliary dyskinesia, primary, 3	Enrichment	NFKB1	0.74
959	Migraine with or without aura 1	Enrichment	CACNA1A	0.73
960	Epilepsy, myoclonic juvenile	Enrichment	CACNB4	0.73
961	Immune deficiency disease	Enrichment	SYK	0.73
962	Epilepsy, idiopathic generalized	Enrichment	CACNA1H	0.73
963	Myelodysplastic syndrome	Enrichment	GNB1	0.73
964	Combined immunodeficiency	Enrichment	ZAP70	0.73
965	Movement disease	Enrichment	GNAO1	0.73
966	Combined t cell and b cell immunodeficiency	Enrichment	ZAP70	0.73
967	Uterine corpus cancer	Enrichment	PTEN	0.73
968	Heritable pulmonary arterial hypertension	Enrichment	GDF2	0.73
969	Combined t and b cell immunodeficiency	Enrichment	ZAP70	0.73
970	Gallbladder cancer	Enrichment	KRAS	0.73
971	Megacolon	Enrichment	SLC8A1	0.73
972	B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)	Enrichment	FLT3	0.73
973	Rare autosomal dominant non-syndromic sensorineural deafness type dfna	Enrichment	ATP2B2, KITLG, P2RX2	0.71
974	Pectus excavatum	Enrichment	TGFBR1	0.71
975	Specific learning disability	Enrichment	MAPK1	0.71
976	Septooptic dysplasia	Enrichment	FGFR1	0.70
977	Cutis laxa	Enrichment	LTBP4	0.70
978	Congenital long qt syndrome	Enrichment	ITPR3	0.70
979	Glioma susceptibility 1	Enrichment	ERBB2	0.68
980	Erythrokeratodermia variabilis et progressiva 1	Enrichment	TRPM4	0.68
981	Fanconi anemia, complementation group c	Enrichment	HDAC8	0.68
982	Leber congenital amaurosis 1	Enrichment	GUCY2D	0.68
983	Congenital muscular dystrophy	Enrichment	RYR1	0.68
984	Neuroblastoma	Enrichment	ALK	0.68
985	Early-onset posterior polar cataract	Enrichment	EPHA2	0.68
986	Aortic valve disease 1	Enrichment	SOS1	0.66
987	Pulmonary hypertension, primary, 1	Enrichment	GDF2	0.66
988	Amelogenesis imperfecta	Enrichment	LTBP3	0.66
989	Pulmonary disease, chronic obstructive	Enrichment	PDE3B	0.64
990	Chromosome 1p36 deletion syndrome	Enrichment	PRKCZ	0.64
991	Multiple sclerosis	Enrichment	ITPR1	0.64
992	Hypogonadotropic hypogonadism 7 with or without anosmia	Enrichment	FGFR1	0.64
993	Heart disease	Enrichment	CREBBP	0.64
994	Generalized epilepsy with febrile seizures plus	Enrichment	FGF13	0.64
995	46,xy partial gonadal dysgenesis	Enrichment	SOS1	0.64
996	Cornelia de lange syndrome 1	Enrichment	HDAC8	0.63
997	Rheumatoid arthritis	Enrichment	CHRNG	0.63
998	Atypical chronic myeloid leukemia, bcr-abl1 negative	Enrichment	FLT3	0.63
999	Ventricular septal defect	Enrichment	TEK	0.63
1000	Cornelia de lange syndrome	Enrichment	HDAC8	0.63
1001	Cystic fibrosis	Enrichment	SLC9A3, TGFB1	0.62
1002	Connective tissue disease	Enrichment	FGFR3, TRPV4	0.62
1003	Peripheral nervous system disease	Enrichment	CHRNG, NGF	0.62
1004	Neuropathy	Enrichment	CHRNG, NGF	0.62
1005	Osteoporosis	Enrichment	SRC	0.61
1006	Thrombocytopenia	Enrichment	SRC, THPO	0.61
1007	Renal cell carcinoma, nonpapillary	Enrichment	MET	0.61
1008	Polydactyly, postaxial, type a1	Enrichment	EP300	0.61
1009	Wilms tumor 1	Enrichment	IGF2	0.61
1010	Corpus callosum, agenesis of	Enrichment	CREBBP	0.61
1011	Osteogenesis imperfecta, type iii	Enrichment	BMP1	0.61
1012	Myopia	Enrichment	CACNA1F	0.61
1013	Anterior segment dysgenesis	Enrichment	ITPR1	0.61
1014	Isolated corpus callosum agenesis	Enrichment	CREBBP	0.61
1015	Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome	Enrichment	CREBBP	0.61
1016	Acute promyelocytic leukemia	Enrichment	PRKAR1A	0.61
1017	Leukemia, chronic lymphocytic	Enrichment	P2RX7	0.59
1018	Autosomal dominant macrothrombocytopenia	Enrichment	TRPM7	0.59
1019	Cakut	Enrichment	GDF6, LIFR	0.58
1020	Genetic steroid-resistant nephrotic syndrome	Enrichment	PLCE1, TRPC6	0.58
1021	Hypertension, essential	Enrichment	GNB3	0.56
1022	Cleft palate, isolated	Enrichment	GNB1	0.56
1023	Sudden infant death syndrome	Enrichment	CALM2	0.56
1024	Atrial heart septal defect	Enrichment	HDAC8	0.56
1025	Interatrial communication	Enrichment	HDAC8	0.56
1026	Human immunodeficiency virus type 1	Enrichment	CXCL12	0.54
1027	Ehlers-danlos syndrome	Enrichment	TGFB2	0.52
1028	Heart, malformation of	Enrichment	MAPK1	0.52
1029	Macs syndrome	Enrichment	GDF6	0.50
1030	Alzheimer's disease	Enrichment	CSF1R	0.50
1031	Protein-deficiency anemia	Enrichment	NRAS	0.50
1032	Cardiomyopathy, dilated, 1a	Enrichment	NFATC2	0.49
1033	Hepatoblastoma	Enrichment	FGFR3	0.49
1034	Epilepsy	Enrichment	GRIN2A, GRIN2B	0.49
1035	Autism spectrum disorder	Enrichment	GNB1, MEF2C, PTEN	0.48
1036	Esophageal atresia/tracheoesophageal fistula	Enrichment	POLR2B	0.47
1037	Parkinson's disease	Enrichment	TBP	0.47
1038	Attention deficit-hyperactivity disorder	Enrichment	GNB5	0.47
1039	Visceral heterotaxy	Enrichment	LEFTY2	0.47
1040	Periventricular nodular heterotopia	Enrichment	ATP2B1	0.47
1041	Cataract	Enrichment	EPHA2	0.47
1042	Type 2 diabetes mellitus	Enrichment	IL6, INSR	0.46
1043	Brittle bone disorder	Enrichment	BMP1	0.46
1044	Autism	Enrichment	ATP2B1, CHRNA1, CREBBP	0.45
1045	Nephrotic syndrome	Enrichment	PLCE1, TRPC6	0.45
1046	Congenital myopathy 4a, autosomal dominant	Enrichment	RYR1	0.44
1047	Lynch syndrome	Enrichment	KRAS	0.44
1048	Auditory neuropathy	Enrichment	CACNA1A	0.41
1049	Alzheimer disease, familial, 1	Enrichment	CSF1R	0.40
1050	Pancreatitis, hereditary	Enrichment	TRPV6	0.40
1051	Cataract 44	Enrichment	EPHA2	0.40
1052	Parkinson disease, late-onset	Enrichment	TBP	0.39
1053	Polycystic kidney disease	Enrichment	HDAC8	0.38
1054	Early-onset nuclear cataract	Enrichment	EPHA2	0.38
1055	Prostate cancer	Enrichment	PTEN	0.38
1056	Myocardial infarction	Enrichment	GUCY1A1	0.32
1057	Familial hypertrophic cardiomyopathy	Enrichment	RAF1	0.32
1058	Primary ciliary dyskinesia	Enrichment	DRC4, PRKAR1B	0.31
1059	Precursor t-cell acute lymphoblastic leukemia	Enrichment	FLT3	0.31
1060	Left ventricular noncompaction	Enrichment	RAF1	0.30
1061	Non-syndromic x-linked intellectual disability	Enrichment	ARHGEF6	0.29
1062	Schizophrenia	Enrichment	GRID2, HTR2A	0.29
1063	Pancreatic cancer	Enrichment	KRAS	0.28
1064	Leber plus disease	Enrichment	CNGB3, GDF6, GUCY2D	0.28
1065	Charcot-marie-tooth disease	Enrichment	ARHGEF10	0.25
1066	Hereditary breast carcinoma	Enrichment	PTEN	0.25
1067	Stargardt disease 1	Enrichment	CNGB3	0.23
1068	Sensorineural hearing loss	Enrichment	HGF	0.23
1069	Hypertelorism	Enrichment	FGFR2	0.21
1070	Hereditary breast ovarian cancer syndrome	Enrichment	PTEN	0.19
1071	Male infertility with azoospermia or oligozoospermia due to single gene mutation	Enrichment	FGF8	0.19
1072	Familial isolated dilated cardiomyopathy	Enrichment	RAF1	0.18
1073	Myopathy	Enrichment	RYR1	0.16
1074	Dilated cardiomyopathy	Enrichment	RAF1	0.10
1075	Mitochondrial disease	Enrichment	GFER	0.09

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

CREB Pathway

Pathway Network for CREB Pathway

Pathway network for the CREB Pathway SuperPath

Member Pathways for CREB Pathway

Pathways in the CREB Pathway SuperPath

Gene overlap in member pathways for CREB Pathway SuperPath

Associated Genes for CREB Pathway

Associated Disorders for CREB Pathway

Disorders associated with CREB Pathway SuperPath

STRING Interaction Network for CREB Pathway

Sources for CREB Pathway