Integrin Pathway

Pathway network for the Integrin Pathway SuperPath

Sources:

QIAGEN

Pathways in the Integrin Pathway SuperPath

#	Name	Source	Genes
1	Integrin Pathway	QIAGEN	ACAN ACTA1 ACTA2 ACTB ACTG1 ACTG2 ADCY1 ADCY2 ADCY3 AKT1 ARAF BCAR1 BRAF CAV1 CD47 CDC42 COL10A1 COL11A1 COL11A2 COL12A1 COL13A1 COL14A1 COL15A1 COL16A1 COL17A1 COL18A1 COL19A1 COL1A1 COL1A2 COL20A1 COL21A1 COL22A1 COL23A1 COL24A1 COL25A1 COL27A1 COL2A1 COL3A1 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5 COL4A6 COL5A1 COL5A2 COL5A3 COL6A1 COL6A2 COL6A3 COL7A1 COL8A1 COL8A2 COL9A1 COL9A2 COL9A3 CRK DOCK1 ECM1 ECM2 EFEMP1 EFEMP2 ELK1 ELN EPYC FBN1 FBN2 FBN3 FN1 FOS FRAS1 FREM1 FREM2 FYN GNA11 GNA12 GNA13 GNA14 GNA15 GNAS GNB1 GNB2 GNB3 GNB4 GNB5 GNG2 GNG3 GNG4 GRB2 GRB7 GSN HAPLN1 HAPLN2 HAPLN3 HAPLN4 HRAS HSPG2 IMPG1 IMPG2 ITGA1 ITGA10 ITGA11 ITGA2 ITGA2B ITGA3 ITGA4 ITGA5 ITGA6 ITGA7 ITGA8 ITGA9 ITGAD ITGAE ITGAL ITGAM ITGAV ITGAX ITGB1 ITGB2 ITGB3 ITGB4 ITGB5 ITGB6 ITGB7 ITGB8 JUN KRAS LAMA1 LAMA2 LAMA3 LAMA4 LAMA5 LAMB1 LAMB2 LAMB3 LAMB4 LAMC1 LAMC2 LAMC3 MAP2K1 MAP2K2 MAP2K3 MAP2K4 MAP2K5 MAP2K6 MAP3K2 MAP3K3 MAP3K4 MAP3K5 MAPK1 MAPK10 MAPK3 MAPK8 MAPK9 MEPE MMRN2 MRAS MYC MYLK NCAN NRAS PAK1 PAK2 PAK3 PAK4 PAK5 PAK6 PFN1 PFN2 PIK3R1 PIK3R2 PIK3R3 PIK3R4 PIK3R5 PIP4K2A PIP4K2B PIP4K2C PIP5K1A PIP5K1B PIP5K1C PLCG1 PLCG2 PLPP3 PPP1CB PPP1R12A PPP1R12B PRG2 PRG4 PRKACA PRKACB PRKACG PRKAR1A PRKAR1B PRKAR2A PRKAR2B PTK2 PTK2B PXN RAC1 RAC2 RAC3 RAF1 RHOA ROCK1 ROCK2 RRAS RRAS2 SMC3 SOS1 SOS2 SPOCK1 SPOCK2 SPOCK3 SPON1 SPON2 SPP1 SRC SRF TLN1 TLN2 TNC VAV1 VAV2 VAV3 VCAN VCL (see all 226) (see less)
2	Transendothelial Migration of Leukocytes	QIAGEN	ACAN ACTA1 ACTA2 ACTB ACTG1 ACTG2 ACTR2 ACTR3 ADCY1 ADCY2 ADCY3 ADCY4 ADCY5 ADCY6 ADCY7 ADCY8 ADCY9 AOC3 ARHGAP5 ARHGEF1 BCAR1 BMX BTK CALD1 CALM1 CALM2 CALM3 CCL1 CCL11 CCL13 CCL14 CCL15 CCL16 CCL17 CCL18 CCL19 CCL2 CCL20 CCL21 CCL22 CCL23 CCL24 CCL25 CCL26 CCL27 CCL28 CCL3 CCL3L1 CCL4 CCL4L1 CCL4L2 CCL5 CCL7 CCL8 CCR1 CCR10 CCR2 CCR3 CCR4 CCR5 CCR6 CCR7 CCR8 CCR9 CD99 CDC42 CDH5 CFL1 CFL2 CLDN1 CLDN10 CLDN11 CLDN12 CLDN14 CLDN15 CLDN16 CLDN17 CLDN18 CLDN19 CLDN2 CLDN20 CLDN23 CLDN3 CLDN4 CLDN5 CLDN6 CLDN7 CLDN8 CLDN9 CLEC18C COL10A1 COL11A1 COL11A2 COL12A1 COL13A1 COL14A1 COL15A1 COL16A1 COL17A1 COL18A1 COL19A1 COL1A1 COL1A2 COL20A1 COL21A1 COL22A1 COL23A1 COL24A1 COL25A1 COL27A1 COL2A1 COL3A1 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5 COL4A6 COL5A1 COL5A2 COL5A3 COL6A1 COL6A2 COL6A3 COL7A1 COL8A1 COL8A2 COL9A1 COL9A2 COL9A3 CTNNA1 CTNNA2 CTNNA3 CTNNB1 CTNND1 CX3CL1 CXCL1 CXCL10 CXCL11 CXCL12 CXCL13 CXCL14 CXCL16 CXCL2 CXCL3 CXCL5 CXCL6 CXCL8 CXCL9 CXCR1 CXCR2 CXCR3 CXCR4 CXCR6 CYBA CYBB DIAPH1 ECM1 ECM2 EFEMP1 EFEMP2 ELN EPYC ESAM EZR F11R F2 F2R FBN1 FBN2 FBN3 FER FGR FN1 FPR2 FPR3 FRAS1 FREM1 FREM2 GNA11 GNA12 GNA13 GNA14 GNA15 GNAI1 GNAI2 GNAI3 GNAL GNAO1 GNAS GNAZ GNB1 GNB2 GNB3 GNB4 GNB5 GNG10 GNG11 GNG12 GNG13 GNG2 GNG3 GNG4 GNG5 GNG7 GNG8 GNGT1 GNGT2 GSN HAPLN1 HAPLN2 HAPLN3 HAPLN4 HCK HSPG2 ICAM1 ICAM2 IMPG1 IMPG2 ITGA1 ITGA10 ITGA11 ITGA2 ITGA2B ITGA3 ITGA4 ITGA5 ITGA6 ITGA7 ITGA8 ITGA9 ITGAD ITGAE ITGAL ITGAM ITGAV ITGAX ITGB1 ITGB2 ITGB3 ITGB4 ITGB5 ITGB6 ITGB7 ITGB8 ITK ITPR1 ITPR2 ITPR3 JAM2 JAM3 LAMA1 LAMA2 LAMA3 LAMA4 LAMA5 LAMB1 LAMB2 LAMB3 LAMB4 LAMC1 LAMC2 LAMC3 MAPK11 MAPK12 MAPK13 MAPK14 MEPE MMP1 MMP10 MMP11 MMP12 MMP13 MMP19 MMP2 MMP20 MMP21 MMP23B MMP26 MMP27 MMP28 MMP3 MMP7 MMP8 MMP9 MMRN2 MSN MYH1 MYH10 MYH11 MYH13 MYH14 MYH15 MYH2 MYH3 MYH4 MYH6 MYH7 MYH7B MYH8 MYH9 MYL1 MYL11 MYL2 MYL3 MYL4 MYL5 MYL6 MYL7 MYL9 MYLK MYO10 MYO15A MYO18B MYO1A MYO1B MYO1C MYO1D MYO1E MYO1F MYO1G MYO3A MYO3B MYO5A MYO5C MYO6 MYO7A MYO9A MYO9B NCAN NCF1 NCF2 NCF4 NOX1 NOX3 OCLN PAK1 PAK2 PAK3 PAK4 PAK5 PAK6 PECAM1 PF4 PF4V1 PIK3R1 PIK3R2 PIK3R3 PIK3R4 PIK3R5 PLCB2 PLCG1 PLCG2 PPBPP2 PPP1CB PPP1R12A PPP1R12B PRG2 PRG4 PRKACA PRKACB PRKACG PRKAR1A PRKAR1B PRKAR2A PRKAR2B PRKCA PRKCB PRKCD PRKCE PRKCG PRKCH PRKCQ PRKD1 PRKD3 PTK2 PTK2B PXN RAC1 RAC2 RAC3 RAP1A RAP1B RAPGEF4 RASSF5 RDX RHOA RHOH ROCK1 ROCK2 SDC1 SDC2 SDC3 SDC4 SMC3 SPOCK1 SPOCK2 SPOCK3 SPON1 SPON2 SPP1 SRC TEC THY1 TNC TXK VAV1 VAV2 VAV3 VCAM1 VCAN WAS WASF1 XCL1 XCL2 (see all 415) (see less)
3	GnRH Signaling	QIAGEN	ACAN ADCY1 ADCY2 ADCY3 ADCY4 ADCY5 ADCY6 ADCY7 ADCY8 ADCY9 ARAF ATF2 ATF4 BRAF 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 CAMK2A CAMK2B CAMK2D CAMK2G CDC42 CGA COL10A1 COL11A1 COL11A2 COL12A1 COL13A1 COL14A1 COL15A1 COL16A1 COL17A1 COL18A1 COL19A1 COL1A1 COL1A2 COL20A1 COL21A1 COL22A1 COL23A1 COL24A1 COL25A1 COL27A1 COL2A1 COL3A1 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5 COL4A6 COL5A1 COL5A2 COL5A3 COL6A1 COL6A2 COL6A3 COL7A1 COL8A1 COL8A2 COL9A1 COL9A2 COL9A3 CREB1 CREB3 CREB3L4 CREBBP DNM1 DNM2 ECM1 ECM2 EFEMP1 EFEMP2 EGF EGFR ELK1 ELN EPYC FBN1 FBN2 FBN3 FN1 FOS FRAS1 FREM1 FREM2 FSHB 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 GNRHR GRB2 HAPLN1 HAPLN2 HAPLN3 HAPLN4 HRAS HSPG2 IMPG1 IMPG2 ITGA1 ITGA10 ITGA11 ITGA2 ITGA2B ITGA3 ITGA4 ITGA5 ITGA6 ITGA7 ITGA8 ITGA9 ITGAD ITGAE ITGAL ITGAM ITGAV ITGAX ITGB1 ITGB2 ITGB3 ITGB4 ITGB5 ITGB6 ITGB7 ITGB8 ITPR1 ITPR2 ITPR3 JUN KRAS LAMA1 LAMA2 LAMA3 LAMA4 LAMA5 LAMB1 LAMB2 LAMB3 LAMB4 LAMC1 LAMC2 LAMC3 LHB MAP2K1 MAP2K2 MAP2K3 MAP2K4 MAP2K6 MAP2K7 MAP3K2 MAP3K3 MAP3K4 MAP3K5 MAPK1 MAPK10 MAPK11 MAPK12 MAPK13 MAPK14 MAPK3 MAPK7 MAPK8 MAPK9 MEPE MMRN2 MRAS NCAN NFKB1 NRAS PAK1 PAK2 PAK3 PAK4 PAK5 PAK6 PLCB1 PLCB2 PLCB3 PLCB4 PRG2 PRG4 PRKACA PRKACB PRKACG PRKAR1A PRKAR1B PRKAR2A PRKAR2B PRKCA PRKCB PRKCD PRKCE PRKCG PRKCH PRKCI PRKCQ PRKCZ PRKD1 PRKD3 PTK2 PTK2B RAC1 RAC2 RAC3 RAF1 RRAS RRAS2 SMC3 SOS1 SOS2 SPOCK1 SPOCK2 SPOCK3 SPON1 SPON2 SPP1 SRC TNC VCAN (see all 273) (see less)
4	FAK1 Signaling	QIAGEN	ACAN ACTA1 ACTA2 ACTB ACTG1 ACTG2 AKT1 ARAF ARHGAP26 ARHGEF6 ARHGEF7 ASAP1 BCAR1 BRAF CAPN1 CAPN10 CAPN11 CAPN2 CAPN3 CAPN5 CAPN6 CAPN7 CAPN9 CAPNS1 COL10A1 COL11A1 COL11A2 COL12A1 COL13A1 COL14A1 COL15A1 COL16A1 COL17A1 COL18A1 COL19A1 COL1A1 COL1A2 COL20A1 COL21A1 COL22A1 COL23A1 COL24A1 COL25A1 COL27A1 COL2A1 COL3A1 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5 COL4A6 COL5A1 COL5A2 COL5A3 COL6A1 COL6A2 COL6A3 COL7A1 COL8A1 COL8A2 COL9A1 COL9A2 COL9A3 CRK CSK DOCK1 ECM1 ECM2 EFEMP1 EFEMP2 EGF EGFR ELN EPYC FBN1 FBN2 FBN3 FN1 FRAS1 FREM1 FREM2 FYN GRB2 HAPLN1 HAPLN2 HAPLN3 HAPLN4 HMMR HRAS HSPG2 IMPG1 IMPG2 ITGA1 ITGA10 ITGA11 ITGA2 ITGA2B ITGA3 ITGA4 ITGA5 ITGA6 ITGA7 ITGA8 ITGA9 ITGAD ITGAE ITGAL ITGAM ITGAV ITGAX ITGB1 ITGB2 ITGB3 ITGB4 ITGB5 ITGB6 ITGB7 ITGB8 KRAS LAMA1 LAMA2 LAMA3 LAMA4 LAMA5 LAMB1 LAMB2 LAMB3 LAMB4 LAMC1 LAMC2 LAMC3 MAP2K1 MAP2K2 MAP2K3 MAP2K4 MAP2K5 MAP2K6 MAPK1 MAPK3 MEPE MMRN2 MRAS NCAN NRAS PAK1 PAK2 PAK3 PAK4 PAK5 PAK6 PDPK1 PIK3R1 PIK3R2 PIK3R3 PIK3R4 PIK3R5 PLCG1 PLCG2 PLPP3 PRG2 PRG4 PTEN PTK2 PXN RAC1 RAC2 RAC3 RAF1 RRAS RRAS2 SMC3 SOS1 SOS2 SPOCK1 SPOCK2 SPOCK3 SPON1 SPON2 SPP1 SRC TLN1 TLN2 TNC TNS1 VCAN VCL WAS (see all 188) (see less)
5	UPA-UPAR Pathway	QIAGEN	ACAN AKT1 COL10A1 COL11A1 COL11A2 COL12A1 COL13A1 COL14A1 COL15A1 COL16A1 COL17A1 COL18A1 COL19A1 COL1A1 COL1A2 COL20A1 COL21A1 COL22A1 COL23A1 COL24A1 COL25A1 COL27A1 COL2A1 COL3A1 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5 COL4A6 COL5A1 COL5A2 COL5A3 COL6A1 COL6A2 COL6A3 COL7A1 COL8A1 COL8A2 COL9A1 COL9A2 COL9A3 ECM1 ECM2 EFEMP1 EFEMP2 ELN EPYC FBN1 FBN2 FBN3 FN1 FOS FRAS1 FREM1 FREM2 GRB2 HAPLN1 HAPLN2 HAPLN3 HAPLN4 HRAS HSPG2 IMPG1 IMPG2 ITGA1 ITGA10 ITGA11 ITGA2 ITGA2B ITGA3 ITGA4 ITGA5 ITGA6 ITGA7 ITGA8 ITGA9 ITGAD ITGAE ITGAL ITGAM ITGAV ITGAX ITGB1 ITGB2 ITGB3 ITGB4 ITGB5 ITGB6 ITGB7 ITGB8 JAK1 JAK2 JAK3 JUN KRAS LAMA1 LAMA2 LAMA3 LAMA4 LAMA5 LAMB1 LAMB2 LAMB3 LAMB4 LAMC1 LAMC2 LAMC3 MAPK1 MAPK10 MAPK11 MAPK12 MAPK13 MAPK14 MAPK3 MAPK4 MAPK6 MAPK7 MAPK8 MAPK9 MEPE MMP1 MMP10 MMP11 MMP12 MMP13 MMP19 MMP2 MMP20 MMP21 MMP23B MMP26 MMP27 MMP28 MMP3 MMP7 MMP8 MMP9 MMRN2 MRAS NCAN NRAS PIK3R1 PIK3R2 PIK3R3 PIK3R4 PIK3R5 PLAU PLAUR PLG PRG2 PRG4 PTK2 PTK2B RRAS RRAS2 SERPINE1 SMC3 SPOCK1 SPOCK2 SPOCK3 SPON1 SPON2 SPP1 SRC STAT1 STAT2 STAT3 STAT4 STAT5A STAT5B STAT6 TNC VCAN VTN (see all 175) (see less)
6	Inhibition of Angiogenesis by TSP1	QIAGEN	ACAN CASP3 CD36 CD47 COL10A1 COL11A1 COL11A2 COL12A1 COL13A1 COL14A1 COL15A1 COL16A1 COL17A1 COL18A1 COL19A1 COL1A1 COL1A2 COL20A1 COL21A1 COL22A1 COL23A1 COL24A1 COL25A1 COL27A1 COL2A1 COL3A1 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5 COL4A6 COL5A1 COL5A2 COL5A3 COL6A1 COL6A2 COL6A3 COL7A1 COL8A1 COL8A2 COL9A1 COL9A2 COL9A3 ECM1 ECM2 EFEMP1 EFEMP2 ELN EPYC FBN1 FBN2 FBN3 FN1 FOS FRAS1 FREM1 FREM2 FYN HAPLN1 HAPLN2 HAPLN3 HAPLN4 HSPG2 IMPG1 IMPG2 JUN KDR LAMA1 LAMA2 LAMA3 LAMA4 LAMA5 LAMB1 LAMB2 LAMB3 LAMB4 LAMC1 LAMC2 LAMC3 LEFTY2 MAPK11 MAPK12 MAPK13 MAPK14 MEPE MMP9 MMRN2 NCAN PRG2 PRG4 SDC2 SMC3 SPOCK1 SPOCK2 SPOCK3 SPON1 SPON2 SPP1 TGFB1 TGFB2 TGFB3 TGFBR1 TGFBR2 TGFBR3 THBS1 TNC VCAN VEGFA (see all 109) (see less)

Gene overlap in member pathways for Integrin Pathway SuperPath

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

#	Symbol	Description	Category	# Related Pathways
1	ACAN	Aggrecan	Protein Coding	6
2	COL10A1	Collagen Type X Alpha 1 Chain	Protein Coding	6
3	COL11A1	Collagen Type XI Alpha 1 Chain	Protein Coding	6
4	COL11A2	Collagen Type XI Alpha 2 Chain	Protein Coding	6
5	COL12A1	Collagen Type XII Alpha 1 Chain	Protein Coding	6
6	COL13A1	Collagen Type XIII Alpha 1 Chain	Protein Coding	6
7	COL14A1	Collagen Type XIV Alpha 1 Chain	Protein Coding	6
8	COL15A1	Collagen Type XV Alpha 1 Chain	Protein Coding	6
9	COL16A1	Collagen Type XVI Alpha 1 Chain	Protein Coding	6
10	COL17A1	Collagen Type XVII Alpha 1 Chain	Protein Coding	6
11	COL18A1	Collagen Type XVIII Alpha 1 Chain	Protein Coding	6
12	COL19A1	Collagen Type XIX Alpha 1 Chain	Protein Coding	6
13	COL1A1	Collagen Type I Alpha 1 Chain	Protein Coding	6
14	COL1A2	Collagen Type I Alpha 2 Chain	Protein Coding	6
15	COL21A1	Collagen Type XXI Alpha 1 Chain	Protein Coding	6
16	COL22A1	Collagen Type XXII Alpha 1 Chain	Protein Coding	6
17	COL23A1	Collagen Type XXIII Alpha 1 Chain	Protein Coding	6
18	COL24A1	Collagen Type XXIV Alpha 1 Chain	Protein Coding	6
19	COL25A1	Collagen Type XXV Alpha 1 Chain	Protein Coding	6
20	COL27A1	Collagen Type XXVII Alpha 1 Chain	Protein Coding	6
21	COL2A1	Collagen Type II Alpha 1 Chain	Protein Coding	6
22	COL3A1	Collagen Type III Alpha 1 Chain	Protein Coding	6
23	COL4A1	Collagen Type IV Alpha 1 Chain	Protein Coding	6
24	COL4A2	Collagen Type IV Alpha 2 Chain	Protein Coding	6
25	COL4A3	Collagen Type IV Alpha 3 Chain	Protein Coding	6
26	COL4A4	Collagen Type IV Alpha 4 Chain	Protein Coding	6
27	COL4A5	Collagen Type IV Alpha 5 Chain	Protein Coding	6
28	COL4A6	Collagen Type IV Alpha 6 Chain	Protein Coding	6
29	COL5A1	Collagen Type V Alpha 1 Chain	Protein Coding	6
30	COL5A2	Collagen Type V Alpha 2 Chain	Protein Coding	6
31	COL5A3	Collagen Type V Alpha 3 Chain	Protein Coding	6
32	COL6A1	Collagen Type VI Alpha 1 Chain	Protein Coding	6
33	COL6A2	Collagen Type VI Alpha 2 Chain	Protein Coding	6
34	COL6A3	Collagen Type VI Alpha 3 Chain	Protein Coding	6
35	COL7A1	Collagen Type VII Alpha 1 Chain	Protein Coding	6
36	COL8A1	Collagen Type VIII Alpha 1 Chain	Protein Coding	6
37	COL8A2	Collagen Type VIII Alpha 2 Chain	Protein Coding	6
38	COL9A1	Collagen Type IX Alpha 1 Chain	Protein Coding	6
39	COL9A2	Collagen Type IX Alpha 2 Chain	Protein Coding	6
40	COL9A3	Collagen Type IX Alpha 3 Chain	Protein Coding	6
41	HAPLN1	Hyaluronan And Proteoglycan Link Protein 1	Protein Coding	6
42	VCAN	Versican	Protein Coding	6
43	NCAN	Neurocan	Protein Coding	6
44	SMC3	Structural Maintenance Of Chromosomes 3	Protein Coding	6
45	FREM2	FRAS1 Related Extracellular Matrix 2	Protein Coding	6
46	EPYC	Epiphycan	Protein Coding	6
47	ECM1	Extracellular Matrix Protein 1	Protein Coding	6
48	ECM2	Extracellular Matrix Protein 2	Protein Coding	6
49	EFEMP1	EGF-Like Fibulin Extracellular Matrix Protein 1	Protein Coding	6
50	EFEMP2	EGF-Like Fibulin Extracellular Matrix Protein 2	Protein Coding	6
51	ELN	Elastin	Protein Coding	6
52	FBN1	Fibrillin 1	Protein Coding	6
53	FBN2	Fibrillin 2	Protein Coding	6
54	FBN3	Fibrillin 3	Protein Coding	6
55	FREM1	FRAS1 Related Extracellular Matrix 1	Protein Coding	6
56	FN1	Fibronectin 1	Protein Coding	6
57	FRAS1	Fraser Extracellular Matrix Complex Subunit 1	Protein Coding	6
58	HAPLN2	Hyaluronan And Proteoglycan Link Protein 2	Protein Coding	6
59	HAPLN3	Hyaluronan And Proteoglycan Link Protein 3	Protein Coding	6
60	HAPLN4	Hyaluronan And Proteoglycan Link Protein 4	Protein Coding	6
61	HSPG2	Heparan Sulfate Proteoglycan 2	Protein Coding	6
62	IMPG1	Interphotoreceptor Matrix Proteoglycan 1	Protein Coding	6
63	IMPG2	Interphotoreceptor Matrix Proteoglycan 2	Protein Coding	6
64	COL20A1	Collagen Type XX Alpha 1 Chain	Protein Coding	6
65	LAMA1	Laminin Subunit Alpha 1	Protein Coding	6
66	LAMA2	Laminin Subunit Alpha 2	Protein Coding	6
67	LAMA3	Laminin Subunit Alpha 3	Protein Coding	6
68	LAMA4	Laminin Subunit Alpha 4	Protein Coding	6
69	LAMA5	Laminin Subunit Alpha 5	Protein Coding	6
70	LAMB1	Laminin Subunit Beta 1	Protein Coding	6
71	LAMB2	Laminin Subunit Beta 2	Protein Coding	6
72	LAMB3	Laminin Subunit Beta 3	Protein Coding	6
73	LAMB4	Laminin Subunit Beta 4	Protein Coding	6
74	LAMC1	Laminin Subunit Gamma 1	Protein Coding	6
75	LAMC2	Laminin Subunit Gamma 2	Protein Coding	6
76	LAMC3	Laminin Subunit Gamma 3	Protein Coding	6
77	MEPE	Matrix Extracellular Phosphoglycoprotein	Protein Coding	6
78	MMRN2	Multimerin 2	Protein Coding	6
79	PRG2	Proteoglycan 2, Pro Eosinophil Major Basic Protein	Protein Coding	6
80	PRG4	Proteoglycan 4	Protein Coding	6
81	SPOCK1	SPARC (Osteonectin), Cwcv And Kazal Like Domains Proteoglycan 1	Protein Coding	6
82	SPOCK2	SPARC (Osteonectin), Cwcv And Kazal Like Domains Proteoglycan 2	Protein Coding	6
83	SPOCK3	SPARC (Osteonectin), Cwcv And Kazal Like Domains Proteoglycan 3	Protein Coding	6
84	SPON1	Spondin 1	Protein Coding	6
85	SPON2	Spondin 2	Protein Coding	6
86	SPP1	Secreted Phosphoprotein 1	Protein Coding	6
87	TNC	Tenascin C	Protein Coding	6
88	ITGA1	Integrin Subunit Alpha 1	Protein Coding	5
89	ITGA10	Integrin Subunit Alpha 10	Protein Coding	5
90	ITGA11	Integrin Subunit Alpha 11	Protein Coding	5
91	ITGA2	Integrin Subunit Alpha 2	Protein Coding	5
92	ITGA2B	Integrin Subunit Alpha 2b	Protein Coding	5
93	ITGA3	Integrin Subunit Alpha 3	Protein Coding	5
94	ITGA4	Integrin Subunit Alpha 4	Protein Coding	5
95	ITGA5	Integrin Subunit Alpha 5	Protein Coding	5
96	ITGA6	Integrin Subunit Alpha 6	Protein Coding	5
97	ITGA7	Integrin Subunit Alpha 7	Protein Coding	5
98	ITGA8	Integrin Subunit Alpha 8	Protein Coding	5
99	ITGA9	Integrin Subunit Alpha 9	Protein Coding	5
100	ITGAD	Integrin Subunit Alpha D	Protein Coding	5
101	ITGAE	Integrin Subunit Alpha E	Protein Coding	5
102	ITGAL	Integrin Subunit Alpha L	Protein Coding	5
103	ITGAM	Integrin Subunit Alpha M	Protein Coding	5
104	ITGAV	Integrin Subunit Alpha V	Protein Coding	5
105	ITGAX	Integrin Subunit Alpha X	Protein Coding	5
106	ITGB1	Integrin Subunit Beta 1	Protein Coding	5
107	ITGB2	Integrin Subunit Beta 2	Protein Coding	5
108	ITGB3	Integrin Subunit Beta 3	Protein Coding	5
109	ITGB4	Integrin Subunit Beta 4	Protein Coding	5
110	ITGB5	Integrin Subunit Beta 5	Protein Coding	5
111	ITGB6	Integrin Subunit Beta 6	Protein Coding	5
112	ITGB7	Integrin Subunit Beta 7	Protein Coding	5
113	ITGB8	Integrin Subunit Beta 8	Protein Coding	5
114	PTK2	Protein Tyrosine Kinase 2	Protein Coding	5
115	SRC	SRC Proto-Oncogene, Non-Receptor Tyrosine Kinase	Protein Coding	5
116	FOS	Fos Proto-Oncogene, AP-1 Transcription Factor Subunit	Protein Coding	4
117	GRB2	Growth Factor Receptor Bound Protein 2	Protein Coding	4
118	HRAS	HRas Proto-Oncogene, GTPase	Protein Coding	4
119	JUN	Jun Proto-Oncogene, AP-1 Transcription Factor Subunit	Protein Coding	4
120	KRAS	KRAS Proto-Oncogene, GTPase	Protein Coding	4
121	MAPK1	Mitogen-Activated Protein Kinase 1	Protein Coding	4
122	MAPK3	Mitogen-Activated Protein Kinase 3	Protein Coding	4
123	MRAS	Muscle RAS Oncogene Homolog	Protein Coding	4
124	NRAS	NRAS Proto-Oncogene, GTPase	Protein Coding	4
125	PIK3R5	Phosphoinositide-3-Kinase Regulatory Subunit 5	Protein Coding	4
126	PAK1	P21 (RAC1) Activated Kinase 1	Protein Coding	4
127	PAK2	P21 (RAC1) Activated Kinase 2	Protein Coding	4
128	PAK3	P21 (RAC1) Activated Kinase 3	Protein Coding	4
129	PAK4	P21 (RAC1) Activated Kinase 4	Protein Coding	4
130	PAK6	P21 (RAC1) Activated Kinase 6	Protein Coding	4
131	PAK5	P21 (RAC1) Activated Kinase 5	Protein Coding	4
132	PIK3R1	Phosphoinositide-3-Kinase Regulatory Subunit 1	Protein Coding	4
133	PIK3R2	Phosphoinositide-3-Kinase Regulatory Subunit 2	Protein Coding	4
134	PIK3R3	Phosphoinositide-3-Kinase Regulatory Subunit 3	Protein Coding	4
135	PIK3R4	Phosphoinositide-3-Kinase Regulatory Subunit 4	Protein Coding	4
136	PTK2B	Protein Tyrosine Kinase 2 Beta	Protein Coding	4
137	RAC1	Rac Family Small GTPase 1	Protein Coding	4
138	RAC2	Rac Family Small GTPase 2	Protein Coding	4
139	RAC3	Rac Family Small GTPase 3	Protein Coding	4
140	RRAS	RAS Related	Protein Coding	4
141	RRAS2	RAS Related 2	Protein Coding	4
142	MAPK11	Mitogen-Activated Protein Kinase 11	Protein Coding	4
143	MAPK12	Mitogen-Activated Protein Kinase 12	Protein Coding	4
144	MAPK13	Mitogen-Activated Protein Kinase 13	Protein Coding	4
145	MAPK14	Mitogen-Activated Protein Kinase 14	Protein Coding	4
146	ACTA1	Actin Alpha 1, Skeletal Muscle	Protein Coding	3
147	ACTA2	Actin Alpha 2, Smooth Muscle	Protein Coding	3
148	ACTB	Actin Beta	Protein Coding	3
149	ACTG1	Actin Gamma 1	Protein Coding	3
150	ACTG2	Actin Gamma 2, Smooth Muscle	Protein Coding	3
151	ADCY1	Adenylate Cyclase 1	Protein Coding	3
152	ADCY2	Adenylate Cyclase 2	Protein Coding	3
153	ADCY3	Adenylate Cyclase 3	Protein Coding	3
154	AKT1	AKT Serine/Threonine Kinase 1	Protein Coding	3
155	ARAF	A-Raf Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	3
156	BCAR1	BCAR1 Scaffold Protein, Cas Family Member	Protein Coding	3
157	BRAF	B-Raf Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	3
158	CDC42	Cell Division Cycle 42	Protein Coding	3
159	FYN	FYN Proto-Oncogene, Src Family Tyrosine Kinase	Protein Coding	3
160	GNA11	G Protein Subunit Alpha 11	Protein Coding	3
161	GNA12	G Protein Subunit Alpha 12	Protein Coding	3
162	GNA13	G Protein Subunit Alpha 13	Protein Coding	3
163	GNA14	G Protein Subunit Alpha 14	Protein Coding	3
164	GNA15	G Protein Subunit Alpha 15	Protein Coding	3
165	GNAS	GNAS Complex Locus	Protein Coding	3
166	GNB1	G Protein Subunit Beta 1	Protein Coding	3
167	GNB2	G Protein Subunit Beta 2	Protein Coding	3
168	GNB3	G Protein Subunit Beta 3	Protein Coding	3
169	GNB4	G Protein Subunit Beta 4	Protein Coding	3
170	GNB5	G Protein Subunit Beta 5	Protein Coding	3
171	GNG2	G Protein Subunit Gamma 2	Protein Coding	3
172	GNG3	G Protein Subunit Gamma 3	Protein Coding	3
173	GNG4	G Protein Subunit Gamma 4	Protein Coding	3
174	MAP2K1	Mitogen-Activated Protein Kinase Kinase 1	Protein Coding	3
175	MAP2K2	Mitogen-Activated Protein Kinase Kinase 2	Protein Coding	3
176	MAP2K3	Mitogen-Activated Protein Kinase Kinase 3	Protein Coding	3
177	MAP2K4	Mitogen-Activated Protein Kinase Kinase 4	Protein Coding	3
178	MAP2K6	Mitogen-Activated Protein Kinase Kinase 6	Protein Coding	3
179	MAPK10	Mitogen-Activated Protein Kinase 10	Protein Coding	3
180	MAPK8	Mitogen-Activated Protein Kinase 8	Protein Coding	3
181	MAPK9	Mitogen-Activated Protein Kinase 9	Protein Coding	3
182	PLCG1	Phospholipase C Gamma 1	Protein Coding	3
183	PLCG2	Phospholipase C Gamma 2	Protein Coding	3
184	PRKACA	Protein Kinase CAMP-Activated Catalytic Subunit Alpha	Protein Coding	3
185	PRKACB	Protein Kinase CAMP-Activated Catalytic Subunit Beta	Protein Coding	3
186	PRKACG	Protein Kinase CAMP-Activated Catalytic Subunit Gamma	Protein Coding	3
187	PRKAR1A	Protein Kinase CAMP-Dependent Type I Regulatory Subunit Alpha	Protein Coding	3
188	PRKAR1B	Protein Kinase CAMP-Dependent Type I Regulatory Subunit Beta	Protein Coding	3
189	PRKAR2A	Protein Kinase CAMP-Dependent Type II Regulatory Subunit Alpha	Protein Coding	3
190	PRKAR2B	Protein Kinase CAMP-Dependent Type II Regulatory Subunit Beta	Protein Coding	3
191	PXN	Paxillin	Protein Coding	3
192	RAF1	Raf-1 Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	3
193	SOS1	SOS Ras/Rac Guanine Nucleotide Exchange Factor 1	Protein Coding	3
194	SOS2	SOS Ras/Rho Guanine Nucleotide Exchange Factor 2	Protein Coding	3
195	MMP9	Matrix Metallopeptidase 9	Protein Coding	3
196	RHOA	Ras Homolog Family Member A	Protein Coding	2
197	CD47	CD47 Molecule	Protein Coding	2
198	CRK	CRK Proto-Oncogene, Adaptor Protein	Protein Coding	2
199	DOCK1	Dedicator Of Cytokinesis 1	Protein Coding	2
200	ELK1	ETS Transcription Factor ELK1	Protein Coding	2
201	GSN	Gelsolin	Protein Coding	2
202	MAP2K5	Mitogen-Activated Protein Kinase Kinase 5	Protein Coding	2
203	MAP3K2	Mitogen-Activated Protein Kinase Kinase Kinase 2	Protein Coding	2
204	MAP3K3	Mitogen-Activated Protein Kinase Kinase Kinase 3	Protein Coding	2
205	MAP3K4	Mitogen-Activated Protein Kinase Kinase Kinase 4	Protein Coding	2
206	MAP3K5	Mitogen-Activated Protein Kinase Kinase Kinase 5	Protein Coding	2
207	MYLK	Myosin Light Chain Kinase	Protein Coding	2
208	PLPP3	Phospholipid Phosphatase 3	Protein Coding	2
209	PPP1CB	Protein Phosphatase 1 Catalytic Subunit Beta	Protein Coding	2
210	PPP1R12A	Protein Phosphatase 1 Regulatory Subunit 12A	Protein Coding	2
211	PPP1R12B	Protein Phosphatase 1 Regulatory Subunit 12B	Protein Coding	2
212	ROCK1	Rho Associated Coiled-Coil Containing Protein Kinase 1	Protein Coding	2
213	ROCK2	Rho Associated Coiled-Coil Containing Protein Kinase 2	Protein Coding	2
214	TLN1	Talin 1	Protein Coding	2
215	TLN2	Talin 2	Protein Coding	2
216	VAV1	Vav Guanine Nucleotide Exchange Factor 1	Protein Coding	2
217	VAV2	Vav Guanine Nucleotide Exchange Factor 2	Protein Coding	2
218	VAV3	Vav Guanine Nucleotide Exchange Factor 3	Protein Coding	2
219	VCL	Vinculin	Protein Coding	2
220	ADCY4	Adenylate Cyclase 4	Protein Coding	2
221	ADCY5	Adenylate Cyclase 5	Protein Coding	2
222	ADCY6	Adenylate Cyclase 6	Protein Coding	2
223	ADCY7	Adenylate Cyclase 7	Protein Coding	2
224	ADCY8	Adenylate Cyclase 8	Protein Coding	2
225	ADCY9	Adenylate Cyclase 9	Protein Coding	2
226	GNAI1	G Protein Subunit Alpha I1	Protein Coding	2
227	GNAI2	G Protein Subunit Alpha I2	Protein Coding	2
228	GNAI3	G Protein Subunit Alpha I3	Protein Coding	2
229	GNAL	G Protein Subunit Alpha L	Protein Coding	2
230	GNAO1	G Protein Subunit Alpha O1	Protein Coding	2
231	GNAZ	G Protein Subunit Alpha Z	Protein Coding	2
232	GNG10	G Protein Subunit Gamma 10	Protein Coding	2
233	GNG11	G Protein Subunit Gamma 11	Protein Coding	2
234	GNG12	G Protein Subunit Gamma 12	Protein Coding	2
235	GNG13	G Protein Subunit Gamma 13	Protein Coding	2
236	GNG5	G Protein Subunit Gamma 5	Protein Coding	2
237	GNG7	G Protein Subunit Gamma 7	Protein Coding	2
238	GNG8	G Protein Subunit Gamma 8	Protein Coding	2
239	GNGT1	G Protein Subunit Gamma Transducin 1	Protein Coding	2
240	GNGT2	G Protein Subunit Gamma Transducin 2	Protein Coding	2
241	ITPR1	Inositol 1,4,5-Trisphosphate Receptor Type 1	Protein Coding	2
242	ITPR2	Inositol 1,4,5-Trisphosphate Receptor Type 2	Protein Coding	2
243	ITPR3	Inositol 1,4,5-Trisphosphate Receptor Type 3	Protein Coding	2
244	MMP1	Matrix Metallopeptidase 1	Protein Coding	2
245	MMP10	Matrix Metallopeptidase 10	Protein Coding	2
246	MMP11	Matrix Metallopeptidase 11	Protein Coding	2
247	MMP12	Matrix Metallopeptidase 12	Protein Coding	2
248	MMP13	Matrix Metallopeptidase 13	Protein Coding	2
249	MMP19	Matrix Metallopeptidase 19	Protein Coding	2
250	MMP2	Matrix Metallopeptidase 2	Protein Coding	2
251	MMP20	Matrix Metallopeptidase 20	Protein Coding	2
252	MMP21	Matrix Metallopeptidase 21	Protein Coding	2
253	MMP23B	Matrix Metallopeptidase 23B	Protein Coding	2
254	MMP26	Matrix Metallopeptidase 26	Protein Coding	2
255	MMP27	Matrix Metallopeptidase 27	Protein Coding	2
256	MMP28	Matrix Metallopeptidase 28	Protein Coding	2
257	MMP3	Matrix Metallopeptidase 3	Protein Coding	2
258	MMP7	Matrix Metallopeptidase 7	Protein Coding	2
259	MMP8	Matrix Metallopeptidase 8	Protein Coding	2
260	PLCB2	Phospholipase C Beta 2	Protein Coding	2
261	PRKCA	Protein Kinase C Alpha	Protein Coding	2
262	PRKCB	Protein Kinase C Beta	Protein Coding	2
263	PRKCD	Protein Kinase C Delta	Protein Coding	2
264	PRKCE	Protein Kinase C Epsilon	Protein Coding	2
265	PRKCG	Protein Kinase C Gamma	Protein Coding	2
266	PRKCH	Protein Kinase C Eta	Protein Coding	2
267	PRKD1	Protein Kinase D1	Protein Coding	2
268	PRKD3	Protein Kinase D3	Protein Coding	2
269	PRKCQ	Protein Kinase C Theta	Protein Coding	2
270	SDC2	Syndecan 2	Protein Coding	2
271	WAS	WASP Actin Nucleation Promoting Factor	Protein Coding	2
272	EGF	Epidermal Growth Factor	Protein Coding	2
273	EGFR	Epidermal Growth Factor Receptor	Protein Coding	2
274	MAPK7	Mitogen-Activated Protein Kinase 7	Protein Coding	2
275	CAV1	Caveolin 1	Protein Coding	1
276	GRB7	Growth Factor Receptor Bound Protein 7	Protein Coding	1
277	MYC	MYC Proto-Oncogene, BHLH Transcription Factor	Protein Coding	1
278	PFN1	Profilin 1	Protein Coding	1
279	PFN2	Profilin 2	Protein Coding	1
280	PIP5K1A	Phosphatidylinositol-4-Phosphate 5-Kinase Type 1 Alpha	Protein Coding	1
281	PIP5K1B	Phosphatidylinositol-4-Phosphate 5-Kinase Type 1 Beta	Protein Coding	1
282	PIP5K1C	Phosphatidylinositol-4-Phosphate 5-Kinase Type 1 Gamma	Protein Coding	1
283	PIP4K2A	Phosphatidylinositol-5-Phosphate 4-Kinase Type 2 Alpha	Protein Coding	1
284	PIP4K2B	Phosphatidylinositol-5-Phosphate 4-Kinase Type 2 Beta	Protein Coding	1
285	PIP4K2C	Phosphatidylinositol-5-Phosphate 4-Kinase Type 2 Gamma	Protein Coding	1
286	SRF	Serum Response Factor	Protein Coding	1
287	ACTR2	Actin Related Protein 2	Protein Coding	1
288	ACTR3	Actin Related Protein 3	Protein Coding	1
289	AOC3	Amine Oxidase Copper Containing 3	Protein Coding	1
290	ARHGAP5	Rho GTPase Activating Protein 5	Protein Coding	1
291	ARHGEF1	Rho Guanine Nucleotide Exchange Factor 1	Protein Coding	1
292	RHOH	Ras Homolog Family Member H	Protein Coding	1
293	BMX	BMX Non-Receptor Tyrosine Kinase	Protein Coding	1
294	BTK	Bruton Tyrosine Kinase	Protein Coding	1
295	CALD1	Caldesmon 1	Protein Coding	1
296	CALM1	Calmodulin 1	Protein Coding	1
297	CALM2	Calmodulin 2	Protein Coding	1
298	CALM3	Calmodulin 3	Protein Coding	1
299	CCL1	C-C Motif Chemokine Ligand 1	Protein Coding	1
300	CCL11	C-C Motif Chemokine Ligand 11	Protein Coding	1
301	CCL13	C-C Motif Chemokine Ligand 13	Protein Coding	1
302	CCL14	C-C Motif Chemokine Ligand 14	Protein Coding	1
303	CCL15	C-C Motif Chemokine Ligand 15	Protein Coding	1
304	CCL16	C-C Motif Chemokine Ligand 16	Protein Coding	1
305	CCL17	C-C Motif Chemokine Ligand 17	Protein Coding	1
306	CCL18	C-C Motif Chemokine Ligand 18	Protein Coding	1
307	CCL19	C-C Motif Chemokine Ligand 19	Protein Coding	1
308	CCL2	C-C Motif Chemokine Ligand 2	Protein Coding	1
309	CCL20	C-C Motif Chemokine Ligand 20	Protein Coding	1
310	CCL21	C-C Motif Chemokine Ligand 21	Protein Coding	1
311	CCL22	C-C Motif Chemokine Ligand 22	Protein Coding	1
312	CCL23	C-C Motif Chemokine Ligand 23	Protein Coding	1
313	CCL24	C-C Motif Chemokine Ligand 24	Protein Coding	1
314	CCL25	C-C Motif Chemokine Ligand 25	Protein Coding	1
315	CCL26	C-C Motif Chemokine Ligand 26	Protein Coding	1
316	CCL27	C-C Motif Chemokine Ligand 27	Protein Coding	1
317	CCL28	C-C Motif Chemokine Ligand 28	Protein Coding	1
318	CCL3	C-C Motif Chemokine Ligand 3	Protein Coding	1
319	CCL3L1	C-C Motif Chemokine Ligand 3 Like 1	Protein Coding	1
320	CCL4	C-C Motif Chemokine Ligand 4	Protein Coding	1
321	CCL4L1	C-C Motif Chemokine Ligand 4 Like 1	Protein Coding	1
322	CCL4L2	C-C Motif Chemokine Ligand 4 Like 2	Protein Coding	1
323	CCL5	C-C Motif Chemokine Ligand 5	Protein Coding	1
324	CCL7	C-C Motif Chemokine Ligand 7	Protein Coding	1
325	CCL8	C-C Motif Chemokine Ligand 8	Protein Coding	1
326	CCR1	C-C Motif Chemokine Receptor 1	Protein Coding	1
327	CCR2	C-C Motif Chemokine Receptor 2	Protein Coding	1
328	CCR3	C-C Motif Chemokine Receptor 3	Protein Coding	1
329	CCR4	C-C Motif Chemokine Receptor 4	Protein Coding	1
330	CCR5	C-C Motif Chemokine Receptor 5	Protein Coding	1
331	CCR6	C-C Motif Chemokine Receptor 6	Protein Coding	1
332	CCR7	C-C Motif Chemokine Receptor 7	Protein Coding	1
333	CCR8	C-C Motif Chemokine Receptor 8	Protein Coding	1
334	CCR9	C-C Motif Chemokine Receptor 9	Protein Coding	1
335	CD99	CD99 Molecule (Xg Blood Group)	Protein Coding	1
336	CDH5	Cadherin 5	Protein Coding	1
337	CFL1	Cofilin 1	Protein Coding	1
338	CFL2	Cofilin 2	Protein Coding	1
339	CLDN1	Claudin 1	Protein Coding	1
340	CLDN10	Claudin 10	Protein Coding	1
341	CLDN11	Claudin 11	Protein Coding	1
342	CLDN12	Claudin 12	Protein Coding	1
343	CLDN14	Claudin 14	Protein Coding	1
344	CLDN15	Claudin 15	Protein Coding	1
345	CLDN16	Claudin 16	Protein Coding	1
346	CLDN17	Claudin 17	Protein Coding	1
347	CLDN18	Claudin 18	Protein Coding	1
348	CLDN19	Claudin 19	Protein Coding	1
349	CLDN2	Claudin 2	Protein Coding	1
350	CLDN20	Claudin 20	Protein Coding	1
351	CLDN23	Claudin 23	Protein Coding	1
352	CLDN3	Claudin 3	Protein Coding	1
353	CLDN4	Claudin 4	Protein Coding	1
354	CLDN5	Claudin 5	Protein Coding	1
355	CLDN6	Claudin 6	Protein Coding	1
356	CLDN7	Claudin 7	Protein Coding	1
357	CLDN8	Claudin 8	Protein Coding	1
358	CLDN9	Claudin 9	Protein Coding	1
359	CTNNA1	Catenin Alpha 1	Protein Coding	1
360	CTNNA2	Catenin Alpha 2	Protein Coding	1
361	CTNNA3	Catenin Alpha 3	Protein Coding	1
362	CTNNB1	Catenin Beta 1	Protein Coding	1
363	CTNND1	Catenin Delta 1	Protein Coding	1
364	CX3CL1	C-X3-C Motif Chemokine Ligand 1	Protein Coding	1
365	CXCL1	C-X-C Motif Chemokine Ligand 1	Protein Coding	1
366	CXCL10	C-X-C Motif Chemokine Ligand 10	Protein Coding	1
367	CXCL11	C-X-C Motif Chemokine Ligand 11	Protein Coding	1
368	CXCL12	C-X-C Motif Chemokine Ligand 12	Protein Coding	1
369	CXCL13	C-X-C Motif Chemokine Ligand 13	Protein Coding	1
370	CXCL14	C-X-C Motif Chemokine Ligand 14	Protein Coding	1
371	CXCL16	C-X-C Motif Chemokine Ligand 16	Protein Coding	1
372	CXCL2	C-X-C Motif Chemokine Ligand 2	Protein Coding	1
373	CXCL3	C-X-C Motif Chemokine Ligand 3	Protein Coding	1
374	CXCL5	C-X-C Motif Chemokine Ligand 5	Protein Coding	1
375	CXCL6	C-X-C Motif Chemokine Ligand 6	Protein Coding	1
376	CXCL9	C-X-C Motif Chemokine Ligand 9	Protein Coding	1
377	CXCR3	C-X-C Motif Chemokine Receptor 3	Protein Coding	1
378	CXCR4	C-X-C Motif Chemokine Receptor 4	Protein Coding	1
379	CXCR6	C-X-C Motif Chemokine Receptor 6	Protein Coding	1
380	CYBA	Cytochrome B-245 Alpha Chain	Protein Coding	1
381	CYBB	Cytochrome B-245 Beta Chain	Protein Coding	1
382	DIAPH1	Diaphanous Related Formin 1	Protein Coding	1
383	ESAM	Endothelial Cell Adhesion Molecule	Protein Coding	1
384	F11R	F11 Receptor	Protein Coding	1
385	F2	Coagulation Factor II, Thrombin	Protein Coding	1
386	F2R	Coagulation Factor II Thrombin Receptor	Protein Coding	1
387	FER	FER Tyrosine Kinase	Protein Coding	1
388	FGR	FGR Proto-Oncogene, Src Family Tyrosine Kinase	Protein Coding	1
389	FPR2	Formyl Peptide Receptor 2	Protein Coding	1
390	FPR3	Formyl Peptide Receptor 3	Protein Coding	1
391	CCR10	C-C Motif Chemokine Receptor 10	Protein Coding	1
392	HCK	HCK Proto-Oncogene, Src Family Tyrosine Kinase	Protein Coding	1
393	MYL11	Myosin Light Chain 11	Protein Coding	1
394	ICAM1	Intercellular Adhesion Molecule 1	Protein Coding	1
395	ICAM2	Intercellular Adhesion Molecule 2	Protein Coding	1
396	CXCL8	C-X-C Motif Chemokine Ligand 8	Protein Coding	1
397	CXCR1	C-X-C Motif Chemokine Receptor 1	Protein Coding	1
398	CXCR2	C-X-C Motif Chemokine Receptor 2	Protein Coding	1
399	ITK	IL2 Inducible T Cell Kinase	Protein Coding	1
400	JAM2	Junctional Adhesion Molecule 2	Protein Coding	1
401	JAM3	Junctional Adhesion Molecule 3	Protein Coding	1
402	MYH15	Myosin Heavy Chain 15	Protein Coding	1
403	CLEC18C	C-Type Lectin Domain Family 18 Member C	Protein Coding	1
404	MSN	Moesin	Protein Coding	1
405	MYH1	Myosin Heavy Chain 1	Protein Coding	1
406	MYH10	Myosin Heavy Chain 10	Protein Coding	1
407	MYH11	Myosin Heavy Chain 11	Protein Coding	1
408	MYH13	Myosin Heavy Chain 13	Protein Coding	1
409	MYH14	Myosin Heavy Chain 14	Protein Coding	1
410	MYH2	Myosin Heavy Chain 2	Protein Coding	1
411	MYH3	Myosin Heavy Chain 3	Protein Coding	1
412	MYH4	Myosin Heavy Chain 4	Protein Coding	1
413	MYH6	Myosin Heavy Chain 6	Protein Coding	1
414	MYH7	Myosin Heavy Chain 7	Protein Coding	1
415	MYH7B	Myosin Heavy Chain 7B	Protein Coding	1
416	MYH8	Myosin Heavy Chain 8	Protein Coding	1
417	MYH9	Myosin Heavy Chain 9	Protein Coding	1
418	MYL1	Myosin Light Chain 1	Protein Coding	1
419	MYL2	Myosin Light Chain 2	Protein Coding	1
420	MYL3	Myosin Light Chain 3	Protein Coding	1
421	MYL4	Myosin Light Chain 4	Protein Coding	1
422	MYL5	Myosin Light Chain 5	Protein Coding	1
423	MYL6	Myosin Light Chain 6	Protein Coding	1
424	MYL7	Myosin Light Chain 7	Protein Coding	1
425	MYL9	Myosin Light Chain 9	Protein Coding	1
426	MYO10	Myosin X	Protein Coding	1
427	MYO15A	Myosin XVA	Protein Coding	1
428	MYO18B	Myosin XVIIIB	Protein Coding	1
429	MYO1A	Myosin IA	Protein Coding	1
430	MYO1B	Myosin IB	Protein Coding	1
431	MYO1C	Myosin IC	Protein Coding	1
432	MYO1D	Myosin ID	Protein Coding	1
433	MYO1E	Myosin IE	Protein Coding	1
434	MYO1F	Myosin IF	Protein Coding	1
435	MYO1G	Myosin IG	Protein Coding	1
436	MYO3A	Myosin IIIA	Protein Coding	1
437	MYO3B	Myosin IIIB	Protein Coding	1
438	MYO5A	Myosin VA	Protein Coding	1
439	MYO5C	Myosin VC	Protein Coding	1
440	MYO6	Myosin VI	Protein Coding	1
441	MYO7A	Myosin VIIA	Protein Coding	1
442	MYO9A	Myosin IXA	Protein Coding	1
443	MYO9B	Myosin IXB	Protein Coding	1
444	NCF1	Neutrophil Cytosolic Factor 1	Protein Coding	1
445	NCF2	Neutrophil Cytosolic Factor 2	Protein Coding	1
446	NCF4	Neutrophil Cytosolic Factor 4	Protein Coding	1
447	NOX1	NADPH Oxidase 1	Protein Coding	1
448	NOX3	NADPH Oxidase 3	Protein Coding	1
449	OCLN	Occludin	Protein Coding	1
450	PECAM1	Platelet And Endothelial Cell Adhesion Molecule 1	Protein Coding	1
451	PF4	Platelet Factor 4	Protein Coding	1
452	PF4V1	Platelet Factor 4 Variant 1	Protein Coding	1
453	PPBPP2	Pro-Platelet Basic Protein Pseudogene 2	Pseudogene	1
454	RAP1A	RAP1A, Member Of RAS Oncogene Family	Protein Coding	1
455	RAP1B	RAP1B, Member Of RAS Oncogene Family	Protein Coding	1
456	RAPGEF4	Rap Guanine Nucleotide Exchange Factor 4	Protein Coding	1
457	RASSF5	Ras Association Domain Family Member 5	Protein Coding	1
458	RDX	Radixin	Protein Coding	1
459	SDC1	Syndecan 1	Protein Coding	1
460	SDC3	Syndecan 3	Protein Coding	1
461	SDC4	Syndecan 4	Protein Coding	1
462	TEC	Tec Protein Tyrosine Kinase	Protein Coding	1
463	THY1	Thy-1 Cell Surface Antigen	Protein Coding	1
464	TXK	TXK Tyrosine Kinase	Protein Coding	1
465	VCAM1	Vascular Cell Adhesion Molecule 1	Protein Coding	1
466	EZR	Ezrin	Protein Coding	1
467	WASF1	WASP Family Member 1	Protein Coding	1
468	XCL1	X-C Motif Chemokine Ligand 1	Protein Coding	1
469	XCL2	X-C Motif Chemokine Ligand 2	Protein Coding	1
470	ATF2	Activating Transcription Factor 2	Protein Coding	1
471	ATF4	Activating Transcription Factor 4	Protein Coding	1
472	CACNA1A	Calcium Voltage-Gated Channel Subunit Alpha1 A	Protein Coding	1
473	CACNA1B	Calcium Voltage-Gated Channel Subunit Alpha1 B	Protein Coding	1
474	CACNA1C	Calcium Voltage-Gated Channel Subunit Alpha1 C	Protein Coding	1
475	CACNA1D	Calcium Voltage-Gated Channel Subunit Alpha1 D	Protein Coding	1
476	CACNA1E	Calcium Voltage-Gated Channel Subunit Alpha1 E	Protein Coding	1
477	CACNA1F	Calcium Voltage-Gated Channel Subunit Alpha1 F	Protein Coding	1
478	CACNA1G	Calcium Voltage-Gated Channel Subunit Alpha1 G	Protein Coding	1
479	CACNA1H	Calcium Voltage-Gated Channel Subunit Alpha1 H	Protein Coding	1
480	CACNA1I	Calcium Voltage-Gated Channel Subunit Alpha1 I	Protein Coding	1
481	CACNA1S	Calcium Voltage-Gated Channel Subunit Alpha1 S	Protein Coding	1
482	CACNA2D1	Calcium Voltage-Gated Channel Auxiliary Subunit Alpha2delta 1	Protein Coding	1
483	CACNA2D2	Calcium Voltage-Gated Channel Auxiliary Subunit Alpha2delta 2	Protein Coding	1
484	CACNA2D3	Calcium Voltage-Gated Channel Auxiliary Subunit Alpha2delta 3	Protein Coding	1
485	CACNA2D4	Calcium Voltage-Gated Channel Auxiliary Subunit Alpha2delta 4	Protein Coding	1
486	CACNB1	Calcium Voltage-Gated Channel Auxiliary Subunit Beta 1	Protein Coding	1
487	CACNB2	Calcium Voltage-Gated Channel Auxiliary Subunit Beta 2	Protein Coding	1
488	CACNB3	Calcium Voltage-Gated Channel Auxiliary Subunit Beta 3	Protein Coding	1
489	CACNB4	Calcium Voltage-Gated Channel Auxiliary Subunit Beta 4	Protein Coding	1
490	CACNG1	Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 1	Protein Coding	1
491	CACNG2	Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 2	Protein Coding	1
492	CACNG3	Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 3	Protein Coding	1
493	CACNG4	Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 4	Protein Coding	1
494	CACNG5	Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 5	Protein Coding	1
495	CACNG6	Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 6	Protein Coding	1
496	CACNG7	Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 7	Protein Coding	1
497	CACNG8	Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 8	Protein Coding	1
498	CAMK2A	Calcium/Calmodulin Dependent Protein Kinase II Alpha	Protein Coding	1
499	CAMK2B	Calcium/Calmodulin Dependent Protein Kinase II Beta	Protein Coding	1
500	CAMK2D	Calcium/Calmodulin Dependent Protein Kinase II Delta	Protein Coding	1
501	CAMK2G	Calcium/Calmodulin Dependent Protein Kinase II Gamma	Protein Coding	1
502	CGA	Glycoprotein Hormones, Alpha Polypeptide	Protein Coding	1
503	CREB1	CAMP Responsive Element Binding Protein 1	Protein Coding	1
504	CREB3	CAMP Responsive Element Binding Protein 3	Protein Coding	1
505	CREB3L4	CAMP Responsive Element Binding Protein 3 Like 4	Protein Coding	1
506	CREBBP	CREB Binding Lysine Acetyltransferase	Protein Coding	1
507	DNM1	Dynamin 1	Protein Coding	1
508	DNM2	Dynamin 2	Protein Coding	1
509	FSHB	Follicle Stimulating Hormone Subunit Beta	Protein Coding	1
510	GNAT1	G Protein Subunit Alpha Transducin 1	Protein Coding	1
511	GNAT2	G Protein Subunit Alpha Transducin 2	Protein Coding	1
512	GNRH1	Gonadotropin Releasing Hormone 1	Protein Coding	1
513	GNRH2	Gonadotropin Releasing Hormone 2	Protein Coding	1
514	GNRHR	Gonadotropin Releasing Hormone Receptor	Protein Coding	1
515	LHB	Luteinizing Hormone Subunit Beta	Protein Coding	1
516	MAP2K7	Mitogen-Activated Protein Kinase Kinase 7	Protein Coding	1
517	NFKB1	Nuclear Factor Kappa B Subunit 1	Protein Coding	1
518	PLCB1	Phospholipase C Beta 1	Protein Coding	1
519	PLCB3	Phospholipase C Beta 3	Protein Coding	1
520	PLCB4	Phospholipase C Beta 4	Protein Coding	1
521	PRKCI	Protein Kinase C Iota	Protein Coding	1
522	PRKCZ	Protein Kinase C Zeta	Protein Coding	1
523	ARHGEF6	Rac/Cdc42 Guanine Nucleotide Exchange Factor 6	Protein Coding	1
524	ARHGEF7	Rho Guanine Nucleotide Exchange Factor 7	Protein Coding	1
525	CAPN1	Calpain 1	Protein Coding	1
526	CAPN10	Calpain 10	Protein Coding	1
527	CAPN11	Calpain 11	Protein Coding	1
528	CAPN2	Calpain 2	Protein Coding	1
529	CAPN3	Calpain 3	Protein Coding	1
530	CAPN5	Calpain 5	Protein Coding	1
531	CAPN6	Calpain 6	Protein Coding	1
532	CAPN7	Calpain 7	Protein Coding	1
533	CAPN9	Calpain 9	Protein Coding	1
534	CAPNS1	Calpain Small Subunit 1	Protein Coding	1
535	CSK	C-Terminal Src Kinase	Protein Coding	1
536	ASAP1	ArfGAP With SH3 Domain, Ankyrin Repeat And PH Domain 1	Protein Coding	1
537	ARHGAP26	Rho GTPase Activating Protein 26	Protein Coding	1
538	HMMR	Hyaluronan Mediated Motility Receptor	Protein Coding	1
539	PDPK1	3-Phosphoinositide Dependent Protein Kinase 1	Protein Coding	1
540	PTEN	Phosphatase And Tensin Homolog	Protein Coding	1
541	TNS1	Tensin 1	Protein Coding	1
542	JAK1	Janus Kinase 1	Protein Coding	1
543	JAK2	Janus Kinase 2	Protein Coding	1
544	JAK3	Janus Kinase 3	Protein Coding	1
545	MAPK4	Mitogen-Activated Protein Kinase 4	Protein Coding	1
546	MAPK6	Mitogen-Activated Protein Kinase 6	Protein Coding	1
547	PLAU	Plasminogen Activator, Urokinase	Protein Coding	1
548	PLAUR	Plasminogen Activator, Urokinase Receptor	Protein Coding	1
549	PLG	Plasminogen	Protein Coding	1
550	SERPINE1	Serpin Family E Member 1	Protein Coding	1
551	STAT1	Signal Transducer And Activator Of Transcription 1	Protein Coding	1
552	STAT2	Signal Transducer And Activator Of Transcription 2	Protein Coding	1
553	STAT3	Signal Transducer And Activator Of Transcription 3	Protein Coding	1
554	STAT4	Signal Transducer And Activator Of Transcription 4	Protein Coding	1
555	STAT5A	Signal Transducer And Activator Of Transcription 5A	Protein Coding	1
556	STAT5B	Signal Transducer And Activator Of Transcription 5B	Protein Coding	1
557	STAT6	Signal Transducer And Activator Of Transcription 6	Protein Coding	1
558	VTN	Vitronectin	Protein Coding	1
559	CASP3	Caspase 3	Protein Coding	1
560	CD36	CD36 Molecule (CD36 Blood Group)	Protein Coding	1
561	LEFTY2	Left-Right Determination Factor 2	Protein Coding	1
562	KDR	Kinase Insert Domain Receptor	Protein Coding	1
563	TGFB1	Transforming Growth Factor Beta 1	Protein Coding	1
564	TGFB2	Transforming Growth Factor Beta 2	Protein Coding	1
565	TGFB3	Transforming Growth Factor Beta 3	Protein Coding	1
566	TGFBR1	Transforming Growth Factor Beta Receptor 1	Protein Coding	1
567	TGFBR2	Transforming Growth Factor Beta Receptor 2	Protein Coding	1
568	TGFBR3	Transforming Growth Factor Beta Receptor 3	Protein Coding	1
569	THBS1	Thrombospondin 1	Protein Coding	1
570	VEGFA	Vascular Endothelial Growth Factor A	Protein Coding	1

Disorders associated with Integrin Pathway SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Rasopathy	Enrichment	BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MRAS, NRAS, RAF1, RRAS2, SOS1, SOS2	16.00
2	Familial thoracic aortic aneurysm and aortic dissection	Enrichment	COL1A1, COL3A1, COL5A1, COL5A2, EFEMP2, ELN, FBN1, FBN2, TGFB2, TGFB3, TGFBR1, TGFBR2	16.00
3	Ehlers-danlos syndrome	Enrichment	COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, FBN2, TGFB2, TGFBR2	10.93
4	Noonan syndrome 1	Enrichment	BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MRAS, NRAS, RAF1, RRAS, RRAS2, SOS1, SOS2	10.75
5	Connective tissue disease	Enrichment	COL11A1, COL12A1, COL2A1, COL5A1, COL9A1, COL9A3, EFEMP1, FBN1, TGFBR2	10.50
6	Noonan syndrome and noonan-related syndrome	Enrichment	BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF1, SOS1	10.45
7	Marfan syndrome	Enrichment	COL2A1, FBN1, FBN2, TGFB2, TGFBR1, TGFBR2	10.20
8	Stickler syndrome	Enrichment	COL11A1, COL2A1, COL9A1, COL9A2, COL9A3, VCAN	10.20
9	Classic ehlers-danlos syndrome	Enrichment	COL1A1, COL1A2, COL5A1, COL5A2, TGFBR1	9.69
10	Junctional epidermolysis bullosa	Enrichment	COL17A1, ITGA6, ITGB4, LAMA3, LAMB3, LAMC2	9.44
11	Human immunodeficiency virus type 1	Enrichment	CCL11, CCL2, CCL3, CCL3L1, CCL5, CCR2, CCR5, CXCL12, CXCR1	9.09
12	Epidermolysis bullosa, junctional 1a, intermediate	Enrichment	COL17A1, ITGB4, LAMA3, LAMB3, LAMC2	8.70
13	Junctional epidermolysis bullosa non-herlitz type	Enrichment	COL17A1, ITGB4, LAMA3, LAMB3, LAMC2	8.70
14	Lung non-small cell carcinoma	Enrichment	BRAF, EGFR, HRAS, KRAS, MAP2K1, NRAS	8.54
15	Loeys-dietz syndrome	Enrichment	FBN1, TGFB2, TGFB3, TGFBR1, TGFBR2	8.42
16	Bethlem muscular dystrophy	Enrichment	COL12A1, COL6A1, COL6A2, COL6A3	8.40
17	Ullrich congenital muscular dystrophy 1a	Enrichment	COL12A1, COL6A1, COL6A2, COL6A3	7.71
18	Cardiofaciocutaneous syndrome 1	Enrichment	BRAF, KRAS, MAP2K1, MAP2K2	7.45
19	Cardiofaciocutaneous syndrome	Enrichment	BRAF, KRAS, MAP2K1, MAP2K2	7.45
20	Ehlers-danlos syndrome, classic type, 1	Enrichment	COL1A1, COL1A2, COL5A1, COL5A2	7.23
21	Multiple epiphyseal dysplasia due to collagen 9 anomaly	Enrichment	COL9A1, COL9A2, COL9A3	6.30
22	Collagen vi-related dystrophies	Enrichment	COL6A1, COL6A2, COL6A3	6.30
23	Intermediate collagen vi-related muscular dystrophy	Enrichment	COL6A1, COL6A2, COL6A3	6.30
24	Digenic alport syndrome	Enrichment	COL4A3, COL4A4, COL4A5	6.30
25	Nevus, epidermal	Enrichment	COL7A1, HRAS, KRAS, NRAS	6.04
26	Nephrotic syndrome	Enrichment	COL4A3, COL4A4, COL4A5, FN1, LAMA5, LAMB2	5.95
27	Thyroid cancer, nonmedullary, 2	Enrichment	BRAF, HRAS, NRAS, PTEN	5.92
28	Noonan syndrome 3	Enrichment	HRAS, KRAS, RAF1, SOS1	5.92
29	Follicular thyroid carcinoma	Enrichment	BRAF, HRAS, NRAS, PTEN	5.92
30	Autosomal recessive stickler syndrome	Enrichment	COL9A1, COL9A2, COL9A3	5.70
31	Breast implant-associated anaplastic large cell lymphoma	Enrichment	JAK1, JAK2, STAT3	5.68
32	Melanocytic nevus syndrome, congenital	Enrichment	BRAF, HRAS, NRAS, RAF1	5.62
33	Langerhans cell histiocytosis	Enrichment	BRAF, MAP2K1, NRAS	5.58
34	Chronic granulomatous disease	Enrichment	CYBA, CYBB, NCF1, NCF2, NCF4	5.53
35	Rare autosomal dominant non-syndromic sensorineural deafness type dfna	Enrichment	ACTG1, COL11A1, COL11A2, MYH14, MYH9, MYO1A, MYO1C, MYO6, MYO7A, TNC	5.49
36	Mccune-albright syndrome	Enrichment	COL2A1, FBN1, GNAS	5.34
37	Alport syndrome 3a, autosomal dominant	Enrichment	COL4A3, COL4A4, COL4A5	5.30
38	Autosomal dominant alport syndrome	Enrichment	COL4A3, COL4A4, COL4A5	5.30
39	Alport syndrome	Enrichment	COL4A3, COL4A4, COL4A5	5.30
40	Myopia	Enrichment	COL11A1, COL2A1, COL4A4, FBN1	5.30
41	Kidney disease	Enrichment	COL4A3, COL4A4, COL4A5, LAMB2	5.30
42	Skin disease	Enrichment	COL17A1, COL7A1, ITGB4, LAMB3, LAMC2	5.13
43	Schimmelpenning-feuerstein-mims syndrome	Enrichment	HRAS, KRAS, NRAS	5.08
44	Epidermolysis bullosa, junctional 1b, severe	Enrichment	LAMA3, LAMB3, LAMC2	5.00
45	Inguinal hernia	Enrichment	COL5A1, EFEMP1, FBN1	5.00
46	Keratoconus	Enrichment	COL1A1, COL4A1, COL5A2	5.00
47	Juvenile myelomonocytic leukemia	Enrichment	ARHGAP26, KRAS, NRAS, RRAS	4.79
48	Myopathy	Enrichment	ACTA1, CAPN3, COL6A1, COL6A2, COL6A3, FBN1	4.77
49	Bethlem myopathy 1a	Enrichment	COL6A1, COL6A2, COL6A3	4.76
50	Intervertebral disc disease	Enrichment	COL11A1, COL9A2, COL9A3	4.76
51	Epidermolysis bullosa	Enrichment	COL7A1, ITGA6, LAMB3	4.68
52	Lung cancer susceptibility 3	Enrichment	ACTA2, BRAF, EGFR, KRAS	4.49
53	Nonsyndromic hearing loss	Enrichment	ACTG1, COL11A2, MYH14, MYO15A, MYO3A, MYO6, MYO7A, RDX	4.47
54	Fetomaternal alloimmune thrombocytopenia 1	Enrichment	ITGA2, ITGA2B, ITGB3	4.39
55	Amelogenesis imperfecta, type ia	Enrichment	COL17A1, LAMB3	4.19
56	Spondyloepimetaphyseal dysplasia, strudwick type	Enrichment	COL2A1, FN1	4.19
57	Spondylometaphyseal dysplasia, corner fracture type	Enrichment	COL2A1, FN1	4.19
58	Otospondylomegaepiphyseal dysplasia, autosomal recessive	Enrichment	COL11A2, COL2A1	4.19
59	Loeys-dietz syndrome 2	Enrichment	TGFBR1, TGFBR2	4.19
60	Otospondylomegaepiphyseal dysplasia, autosomal dominant	Enrichment	COL11A2, COL2A1	4.19
61	Ehlers-danlos syndrome, arthrochalasia type, 2	Enrichment	COL1A1, COL1A2	4.19
62	Fibrochondrogenesis	Enrichment	COL11A1, COL11A2	4.19
63	Aortic dissection	Enrichment	COL3A1, FBN1	4.19
64	Stickler syndrome, type ii	Enrichment	COL11A1, COL1A1	4.19
65	Loeys-dietz syndrome 4	Enrichment	TGFB2, TGFB3	4.19
66	Ehlers-danlos/osteogenesis imperfecta syndrome	Enrichment	COL1A1, COL1A2	4.19
67	X-linked diffuse leiomyomatosis-alport syndrome	Enrichment	COL4A5, COL4A6	4.19
68	Pilomyxoid astrocytoma	Enrichment	BRAF, KRAS, RAF1	4.06
69	Non-syndromic genetic deafness	Enrichment	ACTG1, MYH14, MYO15A, MYO3A, MYO6, MYO7A, RDX	4.03
70	Familial thoracic aortic aneurysm and dissection	Enrichment	COL3A1, FBN1, MYH11, MYLK	4.02
71	Renal hypodysplasia/aplasia 3	Enrichment	FRAS1, FREM1, FREM2	3.98
72	Cutis laxa	Enrichment	COL5A1, EFEMP1, EFEMP2	3.98
73	Megacystis-microcolon-intestinal hypoperistalsis syndrome 1	Enrichment	ACTG2, MYH11, MYLK	3.95
74	Diaphragmatic hernia, congenital	Enrichment	FBN1, FRAS1, FREM2	3.87
75	Multiple sclerosis	Enrichment	ITGB4, ITPR1, LAMA5, LAMB1	3.86
76	Ras-associated autoimmune leukoproliferative disorder	Enrichment	KRAS, NRAS	3.78
77	Recessive dystrophic epidermolysis bullosa	Enrichment	COL7A1, MMP1	3.78
78	Metaphyseal anadysplasia	Enrichment	MMP13, MMP9	3.78
79	Localized junctional epidermolysis bullosa, non-herlitz type	Enrichment	COL17A1, ITGB4	3.78
80	Contractural arachnodactyly, congenital	Enrichment	FBN1, FBN2	3.72
81	Hematuria, benign familial, 1	Enrichment	COL4A3, COL4A4	3.72
82	Telecanthus	Enrichment	COL11A1, COL5A2	3.72
83	Ehlers-danlos syndrome, classic type, 2	Enrichment	COL5A1, COL5A2	3.72
84	Loeys-dietz syndrome 1	Enrichment	TGFBR1, TGFBR2	3.72
85	High bone mass osteogenesis imperfecta	Enrichment	COL1A1, COL1A2	3.72
86	Pulmonic stenosis	Enrichment	BRAF, SOS1	3.72
87	Baraitser-winter cerebrofrontofacial syndrome	Enrichment	ACTB, ACTG1	3.72
88	Amelogenesis imperfecta, type ie	Enrichment	COL17A1, ITGB6, LAMB3	3.63
89	Visceral myopathy 1	Enrichment	ACTG2, MYH11, MYLK	3.57
90	Pigmented nodular adrenocortical disease, primary, 1	Enrichment	GNAS, PRKAR1A	3.56
91	Melanoma	Enrichment	BRAF, FBN1, PTEN	3.53
92	Ehlers-danlos syndrome, arthrochalasia type, 1	Enrichment	COL1A1, COL1A2	3.42
93	Brain small vessel disease 1 with or without ocular anomalies	Enrichment	COL4A1, COL4A2	3.42
94	Alport syndrome 2, autosomal recessive	Enrichment	COL4A3, COL4A4	3.42
95	Macular dystrophy, vitelliform, 3	Enrichment	IMPG1, IMPG2	3.42
96	Aortic aneurysm	Enrichment	FBN1, TGFBR1	3.42
97	Autosomal recessive alport syndrome	Enrichment	COL4A3, COL4A4	3.42
98	Osteogenesis imperfecta with normal sclerae, dominant form	Enrichment	COL1A1, COL1A2	3.42
99	Lennox-gastaut syndrome	Enrichment	CACNA1A, DNM1, MAPK10	3.38
100	Hyper-ige syndrome 1, autosomal dominant, with recurrent infections	Enrichment	ITGB3, STAT3	3.31
101	Bleeding disorder, platelet-type, 16	Enrichment	ITGA2B, ITGB3	3.31
102	Large congenital melanocytic nevus	Enrichment	HRAS, NRAS	3.31
103	Lip and oral cavity carcinoma	Enrichment	BRAF, EGFR, HRAS	3.28
104	Epidermolysis bullosa, junctional 5b, with pyloric atresia	Enrichment	ITGA6, ITGB4, MYO6	3.28
105	Hereditary retinal dystrophy	Enrichment	COL11A2, COL18A1, COL2A1, COL9A1, EFEMP1, IMPG1, IMPG2, LAMA1, VCAN	3.27
106	Fundus dystrophy	Enrichment	COL11A2, COL18A1, COL2A1, COL9A1, EFEMP1, IMPG1, IMPG2, LAMA1, VCAN	3.27
107	Primary hyperaldosteronism	Enrichment	BRAF, CACNA1H, GNAS	3.21
108	Macular dystrophy, vitelliform, 2	Enrichment	IMPG1, IMPG2	3.20
109	Retinal detachment	Enrichment	COL2A1, COL9A3	3.20
110	Familial porencephaly	Enrichment	COL4A1, COL4A2	3.20
111	Familial cerebral saccular aneurysm	Enrichment	COL3A1, TGFBR3	3.20
112	Bladder cancer	Enrichment	EGFR, HRAS, KRAS, PTEN	3.19
113	Differentiated thyroid carcinoma	Enrichment	BRAF, HRAS, KRAS, NRAS	3.19
114	Rare genetic deafness	Enrichment	ACTG1, COL11A2, COL4A5, DIAPH1, MYH9, MYO15A, MYO6, MYO7A, RDX	3.18
115	Aortic aneurysm, familial thoracic 1	Enrichment	COL3A1, FBN1, MYH11, MYLK	3.17
116	Osteoporosis	Enrichment	COL1A1, COL1A2, SRC	3.16
117	Isolated macular dystrophy	Enrichment	COL4A5, IMPG1, ITGA4	3.16
118	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	Enrichment	GNA11, PIK3R1	3.09
119	Anastomosing haemangioma	Enrichment	GNA11, GNA14	3.09
120	Dilated cardiomyopathy	Enrichment	ACTA1, BRAF, FBN1, LAMA2, RAF1, VCL	3.08
121	Congenital myopathy 4a, autosomal dominant	Enrichment	ACTA1, ITGA7, MYH7, MYL2	3.05
122	Scoliosis	Enrichment	COL2A1, EFEMP1, FBN1	3.04
123	Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis	Enrichment	CLDN1, CLDN16	3.03
124	Hypomagnesemia 5, renal, with or without ocular involvement	Enrichment	CLDN16, CLDN19	3.03
125	Renal hypomagnesemia 5 with ocular involvement	Enrichment	CLDN16, CLDN19	3.03
126	Osteogenesis imperfecta, type i	Enrichment	COL1A1, COL1A2	3.03
127	Fraser syndrome 1	Enrichment	FRAS1, FREM2	3.03
128	Hemorrhage, intracerebral	Enrichment	COL4A1, COL4A2	3.03
129	Lung cancer	Enrichment	ACTA2, BRAF, EGFR, KRAS	3.02
130	Chronic myelogenous leukemia, bcr-abl1 positive	Enrichment	KRAS, NRAS	3.01
131	Pediatric systemic lupus erythematosus	Enrichment	SPP1, STAT4	3.01
132	Cerebral palsy	Enrichment	CACNA1A, CACNA1C, COL4A1, COL4A2, GNB1	2.98
133	Congenital stationary night blindness	Enrichment	CACNA1F, CACNA2D4, GNAT1, GNB3	2.98
134	Noonan syndrome with multiple lentigines	Enrichment	BRAF, RAF1	2.95
135	Knobloch syndrome	Enrichment	COL18A1, PAK2	2.95
136	Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures	Enrichment	CACNA1A, CACNA1C	2.92
137	Tethered spinal cord syndrome	Enrichment	BRAF, CREBBP	2.92
138	Cakut	Enrichment	ACTG1, COL4A1, FRAS1, FREM2	2.92
139	Osteogenesis imperfecta, type ii	Enrichment	COL1A1, COL1A2	2.88
140	Catecholaminergic polymorphic ventricular tachycardia	Enrichment	CALM1, CALM2, CALM3	2.85
141	Heart, malformation of	Enrichment	COL11A2, COL2A1, MAPK1	2.83
142	Rare autosomal recessive non-syndromic sensorineural deafness type dfnb	Enrichment	ADCY1, CLDN14, COL11A2, MYH9, MYO15A, MYO3A, MYO6, MYO7A, RDX	2.80
143	Orthostatic intolerance	Enrichment	COL5A1, FBN1	2.76
144	Knobloch syndrome 1	Enrichment	COL18A1, PAK2	2.73
145	Arteriovenous malformations of the brain	Enrichment	BRAF, EGFR, KRAS	2.67
146	Auriculocondylar syndrome 1	Enrichment	GNAI3, PLCB4	2.63
147	Achromatopsia 4	Enrichment	GNAI3, GNAT2	2.63
148	Breast adenocarcinoma	Enrichment	AKT1, KRAS	2.62
149	Cone-rod dystrophy 6	Enrichment	CACNA1F, CACNA2D4, GNAT2	2.60
150	Granulomatous disease, chronic, autosomal recessive, 2	Enrichment	NCF1, NCF2	2.56
151	Primary bone dysplasia	Enrichment	COL1A1, COL1A2	2.56
152	Cowden syndrome 1	Enrichment	EGFR, PTEN	2.56
153	Lung squamous cell carcinoma	Enrichment	EGFR, KRAS	2.56
154	Ovarian cancer	Enrichment	AKT1, EGFR, HMMR, KRAS, PTEN, RRAS2	2.55
155	Stroke, ischemic	Enrichment	F2, FBN1, PRKCH	2.54
156	Autosomal dominant non-syndromic intellectual disability	Enrichment	CACNA1I, CACNG2, CAMK2A, CAMK2B, GNB1	2.49
157	Sensorineural hearing loss	Enrichment	CLDN14, COL11A2, COL9A1, MYO15A, MYO3A, MYO7A	2.49
158	Myelofibrosis	Enrichment	JAK2, SRC	2.48
159	Glanzmann thrombasthenia 1	Enrichment	ITGA2B, ITGB3	2.48
160	Leukemia, chronic myeloid	Enrichment	KRAS, NRAS	2.48
161	Pectus excavatum	Enrichment	FBN1, TGFBR1	2.47
162	Osteochondrodysplasia	Enrichment	COL1A1, COL1A2	2.47
163	Presynaptic congenital myasthenic syndromes	Enrichment	COL13A1, LAMA5	2.47
164	Squamous cell carcinoma, head and neck	Enrichment	EGFR, PTEN	2.42
165	Capillary malformation-arteriovenous malformation 1	Enrichment	KRAS, MAP2K1	2.42
166	Gallbladder cancer	Enrichment	BRAF, KRAS	2.42
167	Thrombocytopenia	Enrichment	ITGA2B, ITGB3, SRC, WAS	2.36
168	Renal hypodysplasia/aplasia 1	Enrichment	FRAS1, ITGA8	2.36
169	Microcephaly	Enrichment	ACTB, ACTG1, COL4A1, COL7A1, GNB1, MAPK1, PAK3	2.35
170	Osteogenesis imperfecta, type iv	Enrichment	COL1A1, COL1A2	2.33
171	Amelogenesis imperfecta	Enrichment	COL17A1, LAMB3	2.33
172	Chronic kidney disease	Enrichment	COL4A4, COL4A5	2.33
173	Congenital muscular dystrophy	Enrichment	CAPN3, LAMA2	2.30
174	Eye disease	Enrichment	CACNA1F, CACNA2D4, GNAT2, IMPG2	2.29
175	Granulomatous disease, chronic, x-linked	Enrichment	CYBB, NCF1	2.27
176	Carney complex variant	Enrichment	MYH8, PRKAR1A	2.27
177	Mitral valve insufficiency	Enrichment	FBN1, MYH11	2.27
178	Familial sick sinus syndrome	Enrichment	GNB2, MYH6	2.27
179	Cataract	Enrichment	COL18A1, COL5A1	2.26
180	Ear malformation	Enrichment	COL11A2, MYO15A, MYO6, MYO7A	2.25
181	Melanoma, uveal	Enrichment	GNA11, PLCB4	2.24
182	Osteogenesis imperfecta, type iii	Enrichment	COL1A1, COL1A2	2.20
183	Arteriovenous malformation	Enrichment	HRAS, MAP2K1	2.19
184	Cowden syndrome	Enrichment	AKT1, PTEN	2.19
185	Autosomal dominant macrothrombocytopenia	Enrichment	ITGA2B, ITGB3	2.16
186	Hypertension	Enrichment	COL4A4, COL4A5	2.15
187	Colorectal cancer	Enrichment	AKT1, BRAF, NRAS, PIK3R1, SRC	2.14
188	Spastic paraplegia 4, autosomal dominant	Enrichment	COL3A1, GNAS	2.14
189	Brugada syndrome 1	Enrichment	CACNA2D1, FBN1	2.10
190	Myopathy, x-linked, with excessive autophagy	Enrichment	HRAS, MAP2K1	2.10
191	Stickler syndrome, type i	Enrichment	COL2A1	2.09
192	Bladder diverticulum	Enrichment	EFEMP1	2.09
193	Cryptophthalmos, unilateral or bilateral, isolated	Enrichment	FREM2	2.09
194	Short stature and advanced bone age with or without early-onset osteoarthritis and/or osteochondritis dissecans	Enrichment	ACAN	2.09
195	Ectopia lentis 1, isolated, autosomal dominant	Enrichment	FBN1	2.09
196	Epidermolysis bullosa dystrophica, pretibial	Enrichment	COL7A1	2.09
197	Epidermolysis bullosa dystrophica, autosomal dominant	Enrichment	COL7A1	2.09
198	Epiphyseal dysplasia, multiple, with myopia and conductive deafness	Enrichment	COL2A1	2.09
199	Ehlers-danlos syndrome, cardiac valvular type	Enrichment	COL1A2	2.09
200	Epidermolysis bullosa dystrophica, autosomal recessive	Enrichment	COL7A1	2.09
201	Spondylometaphyseal dysplasia, algerian type	Enrichment	COL2A1	2.09
202	Alport syndrome 1, x-linked	Enrichment	COL4A5	2.09
203	Deafness, autosomal recessive 53	Enrichment	COL11A2	2.09
204	Cornelia de lange syndrome 3 with or without midline brain defects	Enrichment	SMC3	2.09
205	Osteoarthritis with mild chondrodysplasia	Enrichment	COL2A1	2.09
206	Avascular necrosis of femoral head, primary, 1	Enrichment	COL2A1	2.09
207	Czech dysplasia	Enrichment	COL2A1	2.09
208	Nail disorder, nonsyndromic congenital, 8	Enrichment	COL7A1	2.09
209	Coronary heart disease 7	Enrichment	CD36	2.09
210	Glaucoma 1, open angle, h	Enrichment	EFEMP1	2.09
211	Corneal dystrophy, posterior polymorphous, 2	Enrichment	COL8A2	2.09
212	Marshall syndrome	Enrichment	COL11A1	2.09
213	Kniest dysplasia	Enrichment	COL2A1	2.09
214	Cardiomyopathy, dilated, 1jj	Enrichment	LAMA4	2.09
215	Transient bullous dermolysis of the newborn	Enrichment	COL7A1	2.09
216	Corneal dystrophy, fuchs endothelial, 1	Enrichment	COL8A2	2.09
217	Platyspondylic lethal skeletal dysplasia, torrance type	Enrichment	COL2A1	2.09
218	Epidermolysis bullosa with congenital localized absence of skin and deformity of nails	Enrichment	COL7A1	2.09
219	Multiple self-healing squamous epithelioma	Enrichment	TGFBR1	2.09
220	Fibrochondrogenesis 1	Enrichment	COL11A1	2.09
221	Lipoid proteinosis of urbach and wiethe	Enrichment	ECM1	2.09
222	Spondyloepiphyseal dysplasia, stanescu type	Enrichment	COL2A1	2.09
223	Lissencephaly 5	Enrichment	LAMB1	2.09
224	Weill-marchesani syndrome 2	Enrichment	FBN1	2.09
225	Retinitis pigmentosa 56	Enrichment	IMPG2	2.09
226	Deafness, autosomal dominant 56	Enrichment	TNC	2.09
227	Geleophysic dysplasia 2	Enrichment	FBN1	2.09
228	Protrusio acetabuli	Enrichment	FBN1	2.09
229	Acrogeria, gottron type	Enrichment	COL3A1	2.09
230	Epiphyseal dysplasia, multiple, 6	Enrichment	COL9A1	2.09
231	Achondrogenesis, type ii	Enrichment	COL2A1	2.09
232	Macular degeneration, early-onset	Enrichment	FBN2	2.09
233	Macular dystrophy, vitelliform, 4	Enrichment	IMPG1	2.09
234	Fraser syndrome 2	Enrichment	FREM2	2.09
235	Nephrotic syndrome, type 26	Enrichment	LAMA5	2.09
236	Myasthenic syndrome, congenital, 19	Enrichment	COL13A1	2.09
237	Deafness, x-linked 6	Enrichment	COL4A6	2.09
238	Epiphyseal dysplasia, multiple, 2	Enrichment	COL9A2	2.09
239	Ullrich congenital muscular dystrophy 1b	Enrichment	COL6A2	2.09
240	Cutis laxa, autosomal recessive, type id	Enrichment	EFEMP1	2.09
241	Combined osteogenesis imperfecta and ehlers-danlos syndrome 2	Enrichment	COL1A2	2.09
242	Complete cryptophthalmia	Enrichment	FREM2	2.09
243	Spondyloperipheral dysplasia	Enrichment	COL2A1	2.09
244	Myosclerosis, autosomal recessive	Enrichment	COL6A2	2.09
245	Porencephaly	Enrichment	COL4A1	2.09
246	Ullrich congenital muscular dystrophy 1c	Enrichment	COL6A3	2.09
247	Deafness, autosomal dominant 37	Enrichment	COL11A1	2.09
248	Lymphoplasmacytic lymphoma	Enrichment	FBN1	2.09
249	Epiphyseal dysplasia, multiple, 3	Enrichment	COL9A3	2.09
250	Spondyloepimetaphyseal dysplasia, aggrecan type	Enrichment	ACAN	2.09
251	Deafness, autosomal dominant 13	Enrichment	COL11A2	2.09
252	Microvascular complications of diabetes 1	Enrichment	VEGFA	2.09
253	Camurati-engelmann disease 2	Enrichment	TGFB2	2.09
254	Spondyloepiphyseal dysplasia, kimberley type	Enrichment	ACAN	2.09
255	Epidermolysis bullosa pruriginosa	Enrichment	COL7A1	2.09
256	Platelet glycoprotein iv deficiency	Enrichment	CD36	2.09
257	Stickler syndrome, type i, nonsyndromic ocular	Enrichment	COL2A1	2.09
258	Colorectal cancer, hereditary nonpolyposis, type 6	Enrichment	TGFBR2	2.09
259	Stickler syndrome, type iv	Enrichment	COL9A1	2.09
260	Cortical malformations, occipital	Enrichment	LAMC3	2.09
261	Fibrochondrogenesis 2	Enrichment	COL11A2	2.09
262	Dystonia 27	Enrichment	COL6A3	2.09
263	Thyroid gland disease	Enrichment	COL7A1	2.09
264	Stickler syndrome, type v	Enrichment	COL9A2	2.09
265	Loeys-dietz syndrome 5	Enrichment	TGFB3	2.09
266	Macular dystrophy, vitelliform, 5	Enrichment	IMPG2	2.09
267	Qualitative or quantitative defects of collagen 6	Enrichment	COL6A2	2.09
268	Bent bone dysplasia syndrome 2	Enrichment	LAMA5	2.09
269	Vitreoretinopathy with phalangeal epiphyseal dysplasia	Enrichment	COL2A1	2.09
270	Recessive dystrophic epidermolysis bullosa-generalized other	Enrichment	COL7A1	2.09
271	Tufted angioma of skin	Enrichment	KDR	2.09
272	Asphyxia neonatorum	Enrichment	COL1A1	2.09
273	Bethlem myopathy 1b	Enrichment	COL6A2	2.09
274	Fibrosis of extraocular muscles, congenital, 5	Enrichment	COL25A1	2.09
275	Late-onset junctional epidermolysis bullosa	Enrichment	COL17A1	2.09
276	Col4a1-related disorders	Enrichment	COL4A1	2.09
277	Occipital pachygyria and polymicrogyria	Enrichment	LAMC3	2.09
278	Bethlem myopathy 1c	Enrichment	COL6A3	2.09
279	Retinal lattice degeneration	Enrichment	COL9A3	2.09
280	Anus disease	Enrichment	FREM2	2.09
281	Autosomal dominant rhegmatogenous retinal detachment	Enrichment	COL2A1	2.09
282	Col4a1 or col4a2-related cerebral small vessel disease	Enrichment	COL4A1	2.09
283	Multiple epiphyseal dysplasia with myopia and deafness	Enrichment	COL2A1	2.09
284	Hypochondrogenesis	Enrichment	COL2A1	2.09
285	X-linked alport syndrome	Enrichment	COL4A5	2.09
286	Pneumothorax	Enrichment	COL5A1	2.09
287	Localized dystrophic epidermolysis bullosa, acral form	Enrichment	COL7A1	2.09
288	Osteochondritis dissecans	Enrichment	ACAN	2.09
289	Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome	Enrichment	COL11A1	2.09
290	Dysspondyloenchondromatosis	Enrichment	COL2A1	2.09
291	Cystic lymphangioma	Enrichment	COL11A2	2.09
292	Abdominal aortic aneurysm	Enrichment	COL3A1	2.09
293	Lethal arteriopathy syndrome due to fibulin-4 deficiency	Enrichment	EFEMP2	2.09
294	Neonatal marfan syndrome	Enrichment	FBN1	2.09
295	Recessive dystrophic epidermolysis bullosa inversa	Enrichment	COL7A1	2.09
296	Type 2 collagen-related bone disorder	Enrichment	COL2A1	2.09
297	Lama5-related multisystemic syndrome	Enrichment	LAMA5	2.09
298	Short stature-advanced bone age-early-onset osteoarthritis syndrome	Enrichment	ACAN	2.09
299	Cryptophthalmia	Enrichment	FREM2	2.09
300	Generalized dominant dystrophic epidermolysis bullosa	Enrichment	COL7A1	2.09
301	Laminin subunit alpha 2-related muscular dystrophy	Enrichment	LAMA2	2.09
302	Hypertelorism	Enrichment	COL11A1, COL1A1, ELN	2.08
303	Congenital myopathy 3 with rigid spine	Enrichment	ACTA1, MYH7	2.06
304	Congenital ptosis	Enrichment	COL25A1, MYH10	2.06
305	Non-immune hydrops fetalis	Enrichment	ACTA1, HRAS, KRAS	2.05
306	Beckwith-wiedemann syndrome	Enrichment	COL6A1, COL7A1	2.05
307	Ellis-van creveld syndrome	Enrichment	PRKACA, PRKACB	2.04
308	Focal segmental glomerulosclerosis	Enrichment	COL4A4, COL4A5	1.96
309	Meningioma	Enrichment	AKT1, PTEN	1.94
310	Acute promyelocytic leukemia	Enrichment	STAT3, STAT5B	1.93
311	Chromosome 1p36 deletion syndrome	Enrichment	HSPG2, MMP23B	1.93
312	Long qt syndrome 1	Enrichment	CALM1, CALM2, CALM3, ITPR3	1.90
313	Proteus syndrome	Enrichment	AKT1	1.89
314	Oculoectodermal syndrome	Enrichment	KRAS	1.89
315	Systemic lupus erythematosus 6	Enrichment	ITGAM	1.89
316	Cavitary optic disc anomalies	Enrichment	MMP19	1.89
317	Melanosis, neurocutaneous	Enrichment	NRAS	1.89
318	Noonan syndrome 6	Enrichment	NRAS	1.89
319	Ataxia-oculomotor apraxia 3	Enrichment	PIK3R5	1.89
320	Noonan syndrome 11	Enrichment	MRAS	1.89
321	Angioedema, hereditary, 4	Enrichment	PLG	1.89
322	Pseudo-torch syndrome 3	Enrichment	STAT2	1.89
323	Noonan syndrome 13	Enrichment	MAPK1	1.89
324	Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant	Enrichment	STAT5B	1.89
325	Hyper-ige syndrome 6, autosomal dominant, with recurrent infections	Enrichment	STAT6	1.89
326	Disabling pansclerotic morphea of childhood	Enrichment	STAT4	1.89
327	Short syndrome	Enrichment	PIK3R1	1.89
328	Fetomaternal alloimmune thrombocytopenia 2	Enrichment	ITGA2B	1.89
329	T-cell large granular lymphocyte leukemia	Enrichment	STAT3	1.89
330	Systemic lupus erythematosus 11	Enrichment	STAT4	1.89
331	Plasminogen activator inhibitor-1 deficiency	Enrichment	SERPINE1	1.89
332	Cardiofaciocutaneous syndrome 2	Enrichment	KRAS	1.89
333	Heterotaxy, visceral, 7, autosomal	Enrichment	MMP21	1.89
334	Coronary heart disease 6	Enrichment	MMP3	1.89
335	Immunodeficiency 31a	Enrichment	STAT1	1.89
336	Immunodeficiency 36 with lymphoproliferation	Enrichment	PIK3R1	1.89
337	Cowden syndrome 6	Enrichment	AKT1	1.89
338	Agammaglobulinemia 7, autosomal recessive	Enrichment	PIK3R1	1.89
339	Immunodeficiency 31b	Enrichment	STAT1	1.89
340	Autoimmune disease, multisystem, infantile-onset, 1	Enrichment	STAT3	1.89
341	Thrombocytopenia 6	Enrichment	SRC	1.89
342	T-b+ severe combined immunodeficiency due to jak3 deficiency	Enrichment	JAK3	1.89
343	Amelogenesis imperfecta, type ih	Enrichment	ITGB6	1.89
344	Stat3-related early-onset multisystem autoimmune disease	Enrichment	STAT3	1.89
345	Congenital pulmonary airway malformation	Enrichment	KRAS	1.89
346	Fetomaternal alloimmune thrombocytopenia 3	Enrichment	ITGA2	1.89
347	Immune dysregulation, neurodevelopmental defects, and colitis	Enrichment	ITGAV	1.89
348	Congenital plasminogen activator inhibitor type 1 deficiency	Enrichment	SERPINE1	1.89
349	Phakomatosis pigmentokeratotica	Enrichment	HRAS	1.89
350	Chronic lymphoproliferative disorder of natural killer cells	Enrichment	STAT3	1.89
351	Mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency	Enrichment	JAK1	1.89
352	Neurocutaneous melanocytosis	Enrichment	NRAS	1.89
353	Moyamoya disease 1	Enrichment	ACTA2, DIAPH1	1.89
354	Intestinal pseudo-obstruction	Enrichment	ACTG2, MYH11	1.89
355	Adrenocortical carcinoma	Enrichment	CTNNB1, PRKAR1A	1.89
356	Typical nemaline myopathy	Enrichment	ACTA1, CFL2	1.89
357	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	Enrichment	CACNA1C, RAC1	1.88
358	Systemic lupus erythematosus	Enrichment	ITGAM, SPP1, STAT4	1.86
359	Baraitser-winter syndrome 1	Enrichment	ACTB	1.86
360	Vacterl association with hydrocephalus	Enrichment	PTEN	1.86
361	Thrombocytopenia 1	Enrichment	WAS	1.86
362	Intellectual developmental disorder, x-linked 30	Enrichment	PAK3	1.86
363	Pallister-killian syndrome	Enrichment	ARAF	1.86
364	Noonan syndrome 5	Enrichment	RAF1	1.86
365	Hypomagnesemia 4, renal	Enrichment	EGF	1.86
366	Noonan syndrome 4	Enrichment	SOS1	1.86
367	Immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis	Enrichment	RAC2	1.86
368	Congenital myopathy 2a, typical, autosomal dominant	Enrichment	ACTA1	1.86
369	Melorheostosis, isolated	Enrichment	MAP2K1	1.86
370	Noonan syndrome 7	Enrichment	BRAF	1.86
371	Leopard syndrome 3	Enrichment	BRAF	1.86
372	Cardiomyopathy, dilated, 1nn	Enrichment	RAF1	1.86
373	Cardiofaciocutaneous syndrome 3	Enrichment	MAP2K1	1.86
374	Noonan syndrome 9	Enrichment	SOS2	1.86
375	Myopathy, scapulohumeroperoneal	Enrichment	ACTA1	1.86
376	Vitreoretinopathy, neovascular inflammatory	Enrichment	CAPN5	1.86
377	Megacystis-microcolon-intestinal hypoperistalsis syndrome 5	Enrichment	ACTG2	1.86
378	Knobloch syndrome 2	Enrichment	PAK2	1.86
379	Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies	Enrichment	RAC3	1.86
380	Pulmonary hypertension, primary, 6	Enrichment	CAPNS1	1.86
381	Intellectual developmental disorder with macrocephaly, seizures, and speech delay	Enrichment	PAK1	1.86
382	Congenital smooth muscle hamartoma, with or without hemihypertrophy	Enrichment	ACTB	1.86
383	Immune dysregulation, autoimmunity, and autoinflammation	Enrichment	PLCG1	1.86
384	Intellectual developmental disorder, x-linked 46	Enrichment	ARHGEF6	1.86
385	Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia	Enrichment	RAC2	1.86
386	Papillary tumor of the pineal region	Enrichment	PTEN	1.86
387	Cardiomyopathy, dilated, 1w	Enrichment	VCL	1.86
388	Lymphangioma	Enrichment	BRAF	1.86
389	Phace association	Enrichment	BRAF	1.86
390	Becker nevus syndrome	Enrichment	ACTB	1.86
391	Melorheostosis	Enrichment	MAP2K1	1.86
392	Dystonia-deafness syndrome 1	Enrichment	ACTB	1.86
393	Visceral neuropathy, familial, 3, autosomal dominant	Enrichment	ACTG2	1.86
394	Leopard syndrome 2	Enrichment	RAF1	1.86
395	Cardiomyopathy, familial hypertrophic, 15	Enrichment	VCL	1.86
396	Congenital myopathy 2b, severe infantile, autosomal recessive	Enrichment	ACTA1	1.86
397	Cardiofaciocutaneous syndrome 4	Enrichment	MAP2K2	1.86
398	Autoinflammation, antibody deficiency, and immune dysregulation	Enrichment	PLCG2	1.86
399	Autosomal dominant familial visceral neuropathy	Enrichment	ACTG2	1.86
400	Glioma susceptibility 2	Enrichment	PTEN	1.86
401	Familial cold autoinflammatory syndrome 3	Enrichment	PLCG2	1.86
402	Was-related disorders	Enrichment	WAS	1.86
403	Congenital myopathy 2c, severe infantile, autosomal dominant	Enrichment	ACTA1	1.86
404	Thrombocytopenia 8, with dysmorphic features and developmental delay	Enrichment	ACTB	1.86
405	Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia	Enrichment	RAC2	1.86
406	Trigonitis	Enrichment	RAF1	1.86
407	Polycystic ovary syndrome	Enrichment	CAPN10	1.86
408	Baraitser-winter syndrome	Enrichment	ACTB	1.86
409	Progressive muscular atrophy	Enrichment	CAPN3	1.86
410	Zebra body myopathy	Enrichment	ACTA1	1.86
411	Infantile lad-like disease due to rac2 deficiency	Enrichment	RAC2	1.86
412	Congenital smooth muscle hamartoma	Enrichment	ACTB	1.86
413	Capillary leak syndrome	Enrichment	TLN1	1.86
414	Reticular dysgenesis-like severe combined immunodeficiency	Enrichment	RAC2	1.86
415	Syringocystadenoma papilliferum	Enrichment	BRAF	1.86
416	Developmental malformations-deafness-dystonia syndrome	Enrichment	ACTB	1.86
417	Ganglioglioma	Enrichment	BRAF	1.86
418	Nongerminomatous germ cell tumor	Enrichment	BRAF	1.86
419	Phace syndrome	Enrichment	BRAF	1.86
420	Qualitative or quantitative defects of calpain	Enrichment	CAPN3	1.86
421	Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome	Enrichment	PTEN	1.86
422	Actin-accumulation myopathy	Enrichment	ACTA1	1.86
423	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom	Enrichment	RAC1	1.86
424	Classic hairy cell leukemia	Enrichment	BRAF	1.86
425	Myopathic intestinal pseudoobstruction	Enrichment	ACTG2	1.86
426	Rac2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome	Enrichment	RAC2	1.86
427	Egf-related primary hypomagnesemia with intellectual disability	Enrichment	EGF	1.86
428	Temporomandibular joint anomaly	Enrichment	DOCK1	1.86
429	Actg2 visceral myopathy	Enrichment	ACTG2	1.86
430	Long qt syndrome	Enrichment	CALM1, CALM2, CTNNA3, MYH6	1.85
431	Brittle bone disorder	Enrichment	COL1A1, COL1A2	1.84
432	Leukemia, acute myeloid	Enrichment	JAK2, KRAS, NRAS	1.83
433	Brugada syndrome	Enrichment	CACNA1C, CACNA2D1, CACNB2	1.83
434	Acromicric dysplasia	Enrichment	FBN1	1.80
435	Ehlers-danlos syndrome, vascular type	Enrichment	COL3A1	1.80
436	Epiphyseal dysplasia, multiple, 1	Enrichment	COL1A1	1.80
437	Amelogenesis imperfecta, type ib	Enrichment	COL17A1	1.80
438	Cutis laxa, autosomal dominant 1	Enrichment	ELN	1.80
439	Ehlers-danlos syndrome, hypermobility type	Enrichment	COL3A1	1.80
440	Wagner vitreoretinopathy	Enrichment	VCAN	1.80
441	Metaphyseal chondrodysplasia, schmid type	Enrichment	COL10A1	1.80
442	Camurati-engelmann disease 1	Enrichment	TGFB1	1.80
443	Manitoba oculotrichoanal syndrome	Enrichment	FREM1	1.80
444	Epidermolysis bullosa, junctional 2c, laryngoonychocutaneous	Enrichment	LAMA3	1.80
445	Bruck syndrome 1	Enrichment	COL1A2	1.80
446	Stiff skin syndrome	Enrichment	FBN1	1.80
447	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome	Enrichment	PRG4	1.80
448	Myasthenic syndrome, congenital, 5	Enrichment	LAMB2	1.80
449	Dermatofibrosarcoma protuberans	Enrichment	COL1A1	1.80
450	Bifid nose with or without anorectal and renal anomalies	Enrichment	FREM1	1.80
451	Doyne honeycomb retinal dystrophy	Enrichment	EFEMP1	1.80
452	Microvascular complications of diabetes 5	Enrichment	TGFBR2	1.80
453	Legg-calve-perthes disease	Enrichment	COL2A1	1.80
454	Lissencephaly 1	Enrichment	LAMB1	1.80
455	Epithelial recurrent erosion dystrophy	Enrichment	COL17A1	1.80
456	Specific language impairment 5	Enrichment	COL4A4	1.80
457	Beaulieu-boycott-innes syndrome	Enrichment	FBN1	1.80
458	Angioma, tufted	Enrichment	KDR	1.80
459	Pierson syndrome	Enrichment	LAMB2	1.80
460	Schwartz-jampel syndrome, type 1	Enrichment	HSPG2	1.80
461	Supravalvular aortic stenosis	Enrichment	ELN	1.80
462	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1	Enrichment	COL4A2	1.80
463	Combined osteogenesis imperfecta and ehlers-danlos syndrome 1	Enrichment	COL1A1	1.80
464	Epidermolysis bullosa, junctional 3b, severe	Enrichment	LAMC2	1.80
465	Epidermolysis bullosa, junctional 3a, intermediate	Enrichment	LAMC2	1.80
466	Epidermolysis bullosa, junctional 4, intermediate	Enrichment	COL17A1	1.80
467	Stickler syndrome, type vi	Enrichment	COL9A3	1.80
468	Fibromuscular dysplasia, multifocal	Enrichment	COL5A1	1.80
469	Epidermolysis bullosa, junctional 2a, intermediate	Enrichment	LAMA3	1.80
470	Polymicrogyria with or without vascular-type ehlers-danlos syndrome	Enrichment	COL3A1	1.80
471	Inflammatory bowel disease, immunodeficiency, and encephalopathy	Enrichment	TGFB1	1.80
472	Nephrotic syndrome, type 5, with or without ocular abnormalities	Enrichment	LAMB2	1.80
473	Marfanoid-progeroid-lipodystrophy syndrome	Enrichment	FBN1	1.80
474	Optic disk drusen	Enrichment	EFEMP1	1.80
475	Camurati-engelmann disease	Enrichment	TGFB1	1.80
476	Glomerulonephritis	Enrichment	COL4A4	1.80
477	Metaphyseal anadysplasia 2	Enrichment	MMP9	1.80
478	Glaucoma, primary closed-angle	Enrichment	COL18A1	1.80
479	Trigonocephaly 2	Enrichment	FREM1	1.80
480	Steel syndrome	Enrichment	COL27A1	1.80
481	Familial avascular necrosis of the femoral head	Enrichment	COL2A1	1.80
482	Epidermolysis bullosa, junctional 2b, severe	Enrichment	LAMA3	1.80
483	Cataract 16, multiple types	Enrichment	COL12A1	1.80
484	Interfrontal craniofaciosynostosis	Enrichment	FREM1	1.80
485	Wagner disease	Enrichment	VCAN	1.80
486	Dentinogenesis imperfecta	Enrichment	COL1A2	1.80
487	Epidermolysis bullosa dystrophica	Enrichment	COL7A1	1.80
488	Lens subluxation	Enrichment	FBN1	1.80
489	Hypocalciuric hypercalcemia, familial, type ii	Enrichment	GNA11	1.78
490	Acrodysostosis 1 with or without hormone resistance	Enrichment	PRKAR1A	1.78
491	Pseudohypoparathyroidism, type ic	Enrichment	GNAS	1.78
492	Lipodystrophy, congenital generalized, type 3	Enrichment	CAV1	1.78
493	Carney complex, type 1	Enrichment	PRKAR1A	1.78
494	Osseous heteroplasia, progressive	Enrichment	GNAS	1.78
495	Amyloidosis, finnish type	Enrichment	GSN	1.78
496	Amyotrophic lateral sclerosis 18	Enrichment	PFN1	1.78
497	Deafness, autosomal recessive 44	Enrichment	ADCY1	1.78
498	Pulmonary hypertension, primary, 3	Enrichment	CAV1	1.78
499	Acth-independent macronodular adrenal hyperplasia 1	Enrichment	GNAS	1.78
500	Neurodevelopmental disorder with hypotonia and dysmorphic facies	Enrichment	GNB2	1.78
501	Pituitary adenoma 3, multiple types	Enrichment	GNAS	1.78
502	Cardioacrofacial dysplasia 2	Enrichment	PRKACB	1.78
503	Myxoma, intracardiac	Enrichment	PRKAR1A	1.78
504	Lipodystrophy, familial partial, type 7	Enrichment	CAV1	1.78
505	Lodder-merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia	Enrichment	GNB5	1.78
506	Hypocalcemia, autosomal dominant 2	Enrichment	GNA11	1.78
507	Pigmented nodular adrenocortical disease, primary, 4	Enrichment	PRKACA	1.78
508	Charcot-marie-tooth disease, dominant intermediate f	Enrichment	GNB4	1.78
509	Disorders of gnas inactivation	Enrichment	GNAS	1.78
510	Cardioacrofacial dysplasia 1	Enrichment	PRKACA	1.78
511	Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies	Enrichment	RHOA	1.78
512	Takenouchi-kosaki syndrome	Enrichment	CDC42	1.78
513	Intellectual developmental disorder, autosomal dominant 42	Enrichment	GNB1	1.78
514	Noonan syndrome-like disorder with loose anagen hair 2	Enrichment	PPP1CB	1.78
515	Sick sinus syndrome 4	Enrichment	GNB2	1.78
516	Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies	Enrichment	RHOA	1.78
517	Prkar1b-related neurodegenerative dementia with intermediate filaments	Enrichment	PRKAR1B	1.78
518	Cerebral cavernous malformations 5	Enrichment	MAP3K3	1.78
519	Nocarh syndrome	Enrichment	CDC42	1.78
520	Monostotic fibrous dysplasia	Enrichment	GNAS	1.78
521	Phakomatosis cesiomarmorata	Enrichment	GNA11	1.78
522	Verrucous hemangioma	Enrichment	MAP3K3	1.78
523	Kaposiform hemangioendothelioma	Enrichment	GNA14	1.78
524	Mazabraud syndrome	Enrichment	GNAS	1.78
525	Anhidrosis, isolated, with normal sweat glands	Enrichment	ITPR2	1.70
526	Thyrotoxic periodic paralysis 1	Enrichment	CACNA1S	1.70
527	Epilepsy, idiopathic generalized 9	Enrichment	CACNB4	1.70
528	Brugada syndrome 4	Enrichment	CACNB2	1.70
529	Charcot-marie-tooth disease, dominant intermediate b	Enrichment	DNM2	1.70
530	Dyskinesia with orofacial involvement, autosomal dominant	Enrichment	ADCY5	1.70
531	Neurodevelopmental disorder with involuntary movements	Enrichment	GNAO1	1.70
532	Episodic ataxia, type 5	Enrichment	CACNB4	1.70
533	Hypogonadotropic hypogonadism 23 with or without anosmia	Enrichment	LHB	1.70
534	Autoimmune lymphoproliferative syndrome, type iii	Enrichment	PRKCD	1.70
535	Ventricular tachycardia, familial	Enrichment	GNAI2	1.70
536	Spondylometaphyseal dysplasia with corneal dystrophy	Enrichment	PLCB3	1.70
537	Neurodevelopmental disorder with hyperkinetic movements and dyskinesia	Enrichment	ADCY5	1.70
538	Charcot-marie-tooth disease, demyelinating, type 1j	Enrichment	ITPR3	1.70
539	Neurodevelopmental disorder with speech impairment and with or without seizures	Enrichment	CACNA1I	1.70
540	Intellectual developmental disorder, autosomal recessive 63	Enrichment	CAMK2A	1.70
541	Congenital myopathy 18	Enrichment	CACNA1S	1.70
542	Intellectual developmental disorder, autosomal dominant 54	Enrichment	CAMK2B	1.70
543	Auriculocondylar syndrome 2a	Enrichment	PLCB4	1.70
544	Cone-rod dystrophy, x-linked, 3	Enrichment	CACNA1F	1.70
545	Retinal cone dystrophy 4	Enrichment	CACNA2D4	1.70
546	Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities	Enrichment	GNAI1	1.70
547	Developmental and epileptic encephalopathy 17	Enrichment	GNAO1	1.70
548	Primary aldosteronism, seizures, and neurologic abnormalities	Enrichment	CACNA1D	1.70
549	Dyskinesia with orofacial involvement, autosomal recessive	Enrichment	ADCY5	1.70
550	Brugada syndrome 3	Enrichment	CACNA1C	1.70
551	Epilepsy, childhood absence 6	Enrichment	CACNA1H	1.70
552	Malignant hyperthermia 5	Enrichment	CACNA1S	1.70
553	Spinocerebellar ataxia 14	Enrichment	PRKCG	1.70
554	Night blindness, congenital stationary, autosomal dominant 3	Enrichment	GNAT1	1.70
555	Intellectual developmental disorder, autosomal dominant 10	Enrichment	CACNG2	1.70
556	Lethal congenital contracture syndrome 5	Enrichment	DNM2	1.70
557	Sinoatrial node dysfunction and deafness	Enrichment	CACNA1D	1.70
558	Dystonia 25	Enrichment	GNAL	1.70
559	Hypogonadotropic hypogonadism 12 with or without anosmia	Enrichment	GNRH1	1.70
560	Night blindness, congenital stationary, type 1g	Enrichment	GNAT1	1.70
561	Spinocerebellar ataxia 42	Enrichment	CACNA1G	1.70
562	Developmental and epileptic encephalopathy 110	Enrichment	CACNA2D1	1.70
563	Congenital heart defects and ectodermal dysplasia	Enrichment	PRKD1	1.70
564	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits	Enrichment	CACNA1G	1.70
565	Developmental and epileptic encephalopathy 69	Enrichment	CACNA1E	1.70
566	Hyperaldosteronism, familial, type iv	Enrichment	CACNA1H	1.70
567	Menke-hennekam syndrome 1	Enrichment	CREBBP	1.70
568	Intellectual developmental disorder, autosomal dominant 53	Enrichment	CAMK2A	1.70
569	Auriculocondylar syndrome 2b	Enrichment	PLCB4	1.70
570	Intellectual developmental disorder, autosomal dominant 59	Enrichment	CAMK2G	1.70
571	Isolated gonadotropin-releasing hormone deficiency	Enrichment	GNRHR	1.70
572	Rubinstein-taybi syndrome due to 16p13.3 microdeletion	Enrichment	CREBBP	1.70
573	Autosomal dominant charcot-marie-tooth disease type 2m	Enrichment	DNM2	1.70
574	Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy	Enrichment	ITPR3	1.70
575	Conn's syndrome	Enrichment	CACNA1H	1.70
576	Sporadic hemiplegic migraine	Enrichment	CACNA1A	1.70
577	Atypical timothy syndrome	Enrichment	CACNA1C	1.70
578	Aldosterone-producing adenoma with seizures and neurological abnormalities	Enrichment	CACNA1D	1.70
579	Menke-hennekam syndrome	Enrichment	CREBBP	1.70
580	Timothy syndrome type 2	Enrichment	CACNA1C	1.70
581	Gnao1-related disorder	Enrichment	GNAO1	1.70
582	Periodic paralysis with transient compartment-like syndrome	Enrichment	CACNA1S	1.70
583	Malignant epithelial tumor of salivary glands	Enrichment	PRKD1	1.70
584	Timothy syndrome type 1	Enrichment	CACNA1C	1.70
585	Cacna1c-related disorders	Enrichment	CACNA1C	1.70
586	Benign paroxysmal torticollis of infancy	Enrichment	CACNA1A	1.70
587	Creatine phosphokinase, elevated serum	Enrichment	CAPN3, LAMA2	1.70
588	Isolated elevated serum creatine phosphokinase levels	Enrichment	CAPN3, LAMA2	1.70
589	Rhabdomyosarcoma	Enrichment	HRAS, PTEN	1.70
590	Breast cancer	Enrichment	AKT1, HMMR, KRAS, PTEN	1.69
591	Hereditary breast carcinoma	Enrichment	AKT1, KRAS, PTEN	1.64
592	Achondroplasia	Enrichment	FBN1	1.62
593	Retinal arteries, tortuosity of	Enrichment	COL4A1	1.62
594	Palmoplantar keratoderma, punctate type ia	Enrichment	COL14A1	1.62
595	Spondyloepiphyseal dysplasia congenita	Enrichment	COL2A1	1.62
596	Megalocornea	Enrichment	COL11A1	1.62
597	Dyssegmental dysplasia, silverman-handmaker type	Enrichment	HSPG2	1.62
598	Nail disorder, nonsyndromic congenital, 4	Enrichment	COL7A1	1.62
599	Hypophosphatasia, infantile	Enrichment	COL11A2	1.62
600	Glomerulopathy with fibronectin deposits 2	Enrichment	FN1	1.62
601	Muscular dystrophy, congenital merosin-deficient, 1a	Enrichment	LAMA2	1.62
602	Caffey disease	Enrichment	COL1A1	1.62
603	Brain small vessel disease 2	Enrichment	COL4A2	1.62
604	Ullrich congenital muscular dystrophy 2	Enrichment	COL12A1	1.62
605	Bethlem myopathy 2	Enrichment	COL12A1	1.62
606	Microangiopathy and leukoencephalopathy, pontine, autosomal dominant	Enrichment	COL4A1	1.62
607	Pilarowski-bjornsson syndrome	Enrichment	COL4A3	1.62
608	Alport syndrome 3b, autosomal recessive	Enrichment	COL4A3	1.62
609	Weill-marchesani syndrome 1	Enrichment	FBN1	1.62
610	Cutis laxa, autosomal recessive, type ib	Enrichment	EFEMP2	1.62
611	Autosomal recessive cutis laxa type i	Enrichment	EFEMP2	1.62
612	Poretti-boltshauser syndrome	Enrichment	LAMA1	1.62
613	Isolated ectopia lentis	Enrichment	FBN1	1.62
614	Autosomal dominant cutis laxa	Enrichment	ELN	1.62
615	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps	Enrichment	COL4A1	1.62
616	Hematuria, benign familial, 2	Enrichment	COL4A3	1.62
617	Geleophysic dysplasia	Enrichment	FBN1	1.62
618	Multiple epiphyseal dysplasia	Enrichment	COL2A1	1.62
619	Familial drusen	Enrichment	EFEMP1	1.62
620	Hyperpigmentation of the skin	Enrichment	COL7A1	1.62
621	Lama2-related muscular dystrophy	Enrichment	LAMA2	1.62
622	Stargardt disease 1	Enrichment	COL18A1, COL2A1	1.62
623	Leukocyte adhesion deficiency, type i	Enrichment	ITGB2	1.59
624	Scoliosis, isolated 1	Enrichment	MAPK7	1.59
625	Costello syndrome	Enrichment	HRAS	1.59
626	Hemangiopericytoma, malignant	Enrichment	STAT6	1.59
627	Metaphyseal dysplasia, spahr type	Enrichment	MMP13	1.59
628	Plasminogen deficiency, type i	Enrichment	PLG	1.59
629	Growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive	Enrichment	STAT5B	1.59
630	Spondyloepimetaphyseal dysplasia, missouri type	Enrichment	MMP13	1.59
631	Quebec platelet disorder	Enrichment	PLAU	1.59
632	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	Enrichment	PIK3R5	1.59
633	Amelogenesis imperfecta, hypomaturation type, iia2	Enrichment	MMP20	1.59
634	Leukocyte adhesion deficiency, type iii	Enrichment	ITGB2	1.59
635	Encephalocraniocutaneous lipomatosis	Enrichment	KRAS	1.59
636	Thrombocythemia 3	Enrichment	JAK2	1.59
637	Immunodeficiency 31c	Enrichment	STAT1	1.59
638	Epidermolysis bullosa, junctional 5a, intermediate	Enrichment	ITGB4	1.59
639	Noonan syndrome 12	Enrichment	RRAS2	1.59
640	Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome	Enrichment	ITGA3	1.59
641	Preterm premature rupture of the membranes	Enrichment	MMP8	1.59
642	Autoinflammation, immune dysregulation, and eosinophilia	Enrichment	JAK1	1.59
643	Hereditary angioedema	Enrichment	PLG	1.59
644	Polycythemia	Enrichment	JAK2	1.59
645	Hypereosinophilic syndrome	Enrichment	JAK2	1.59
646	Laron syndrome with immunodeficiency	Enrichment	STAT5B	1.59
647	Wooly hair nevus	Enrichment	HRAS	1.59
648	Undetermined early-onset epileptic encephalopathy	Enrichment	CACNA1A, CACNA1B, CACNA2D1, DNM1	1.58
649	Fibromatosis, gingival, 1	Enrichment	SOS1	1.56
650	Neutropenia, severe congenital, x-linked	Enrichment	WAS	1.56
651	Wiskott-aldrich syndrome	Enrichment	WAS	1.56
652	Aortic aneurysm, familial thoracic 2	Enrichment	ACTA2	1.56
653	Deafness, autosomal dominant 20	Enrichment	ACTG1	1.56
654	Smooth muscle dysfunction syndrome	Enrichment	ACTA2	1.56
655	Aortic aneurysm, familial thoracic 6	Enrichment	ACTA2	1.56
656	Baraitser-winter syndrome 2	Enrichment	ACTG1	1.56
657	Moyamoya disease 5	Enrichment	ACTA2	1.56
658	Spastic paraplegia 76, autosomal recessive	Enrichment	CAPN1	1.56
659	Intellectual developmental disorder, autosomal dominant 48	Enrichment	RAC1	1.56
660	Vacterl with hydrocephalus	Enrichment	PTEN	1.56
661	Juvenile polyposis of infancy	Enrichment	PTEN	1.56
662	Tafro syndrome	Enrichment	MAP2K2	1.56
663	Intestinal obstruction	Enrichment	ACTG2	1.56
664	Diffuse large b-cell lymphoma	Enrichment	BRAF, PTEN	1.55
665	Cardiomyopathy, familial hypertrophic, 4	Enrichment	MYH7, NCF1	1.54
666	Genetic steroid-resistant nephrotic syndrome	Enrichment	COL4A3, LAMA5	1.52
667	Hypomagnesemia 3, renal	Enrichment	CLDN16	1.51
668	Pseudo-torch syndrome 1	Enrichment	OCLN	1.51
669	Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a	Enrichment	MYH3	1.51
670	Granulomatous disease, chronic, autosomal recessive, 4	Enrichment	CYBA	1.51
671	Immunodeficiency 50	Enrichment	MSN	1.51
672	Immunodeficiency 34	Enrichment	CYBB	1.51
673	Deafness, autosomal recessive 2	Enrichment	MYO7A	1.51
674	Deafness, autosomal recessive 24	Enrichment	RDX	1.51
675	Deafness, autosomal dominant 17	Enrichment	MYH9	1.51
676	Deafness, autosomal dominant 48	Enrichment	MYO1A	1.51
677	Macular dystrophy, patterned, 2	Enrichment	CTNNA1	1.51
678	Cardiomyopathy, familial hypertrophic, 8	Enrichment	MYL3	1.51
679	Prothrombin deficiency, congenital	Enrichment	F2	1.51
680	Deafness, autosomal dominant 22	Enrichment	MYO6	1.51
681	Deafness, autosomal dominant 1, with or without thrombocytopenia	Enrichment	DIAPH1	1.51
682	Polycystic lung disease	Enrichment	CCR2	1.51
683	Cardiomyopathy, dilated, 1ee	Enrichment	MYH6	1.51
684	Sick sinus syndrome 3	Enrichment	MYH6	1.51
685	Griscelli syndrome, type 1	Enrichment	MYO5A	1.51
686	Elejalde neuroectodermal melanolysosomal syndrome	Enrichment	MYO5A	1.51
687	Whim syndrome 1	Enrichment	CXCR4	1.51
688	Transient erythroblastopenia of childhood	Enrichment	TEC	1.51
689	Arrhythmogenic right ventricular dysplasia, familial, 13	Enrichment	CTNNA3	1.51
690	Immunodeficiency 62	Enrichment	ARHGEF1	1.51
691	Basal ganglia calcification, idiopathic, 8, autosomal recessive	Enrichment	JAM2	1.51
692	Neurodevelopmental disorder with absent language and variable seizures	Enrichment	WASF1	1.51
693	Helix syndrome	Enrichment	CLDN10	1.51
694	Deafness, autosomal dominant 4a	Enrichment	MYH14	1.51
695	Cortical dysplasia, complex, with other brain malformations 9	Enrichment	CTNNA2	1.51
696	Deafness, autosomal recessive 116	Enrichment	CLDN9	1.51
697	Azoospermia, obstructive, with nephrolithiasis	Enrichment	CLDN2	1.51
698	Deafness, autosomal recessive 37	Enrichment	MYO6	1.51
699	Isolated growth hormone deficiency type iii	Enrichment	BTK	1.51
700	Diarrhea 15, congenital	Enrichment	MYO1A	1.51
701	Atrial fibrillation, familial, 18	Enrichment	MYL4	1.51
702	Nemaline myopathy 7	Enrichment	CFL2	1.51
703	Deafness, autosomal dominant 11	Enrichment	MYO7A	1.51
704	Deafness, autosomal recessive 30	Enrichment	MYO3A	1.51
705	Lymphoproliferative syndrome 1	Enrichment	ITK	1.51
706	Celiac disease 4	Enrichment	MYO9B	1.51
707	Cardiomyopathy, familial hypertrophic, 14	Enrichment	MYH6	1.51
708	Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies	Enrichment	RAP1B	1.51
709	Long qt syndrome 16	Enrichment	CALM3	1.51
710	Peripheral neuropathy, myopathy, hoarseness, and hearing loss	Enrichment	MYH14	1.51
711	Hemorrhagic destruction of the brain, subependymal calcification, and cataracts	Enrichment	JAM3	1.51
712	Type 1 diabetes mellitus 22	Enrichment	CCR5	1.51
713	Focal segmental glomerulosclerosis 6	Enrichment	MYO1E	1.51
714	Pregnancy loss, recurrent 2	Enrichment	F2	1.51
715	Leukodystrophy, hypomyelinating, 22	Enrichment	CLDN11	1.51
716	Seizures, cortical blindness, and microcephaly syndrome	Enrichment	DIAPH1	1.51
717	Diaph1-related sensorineural hearing loss-thrombocytopenia syndrome	Enrichment	DIAPH1	1.51
718	Deafness, autosomal dominant 90	Enrichment	MYO3A	1.51
719	Myasthenic syndrome, congenital, 24, presynaptic	Enrichment	MYO9A	1.51
720	Congenital myopathy 14	Enrichment	MYL1	1.51
721	Primary hypomagnesemia	Enrichment	CLDN16	1.51
722	Immunodeficiency 129	Enrichment	RHOH	1.51
723	Whim syndrome 2	Enrichment	CXCR2	1.51
724	Adenoid ameloblastoma	Enrichment	CTNNB1	1.51
725	Long qt syndrome 15	Enrichment	CALM2	1.51
726	Autoinflammation with pulmonary and cutaneous vasculitis	Enrichment	HCK	1.51
727	Usher syndrome type 1b	Enrichment	MYO7A	1.51
728	T-cell immunodeficiency with epidermodysplasia verruciformis	Enrichment	RHOH	1.51
729	Klippel-feil syndrome	Enrichment	MYO18B	1.51
730	Prothrombin deficiency	Enrichment	F2	1.51
731	Autosomal dominant nonsyndromic hearing loss 17	Enrichment	MYH9	1.51
732	Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome	Enrichment	MYO6	1.51
733	Autosomal recessive severe congenital neutropenia due to cxcr2 deficiency	Enrichment	CXCR2	1.51
734	Autosomal dominant nonsyndromic hearing loss 22	Enrichment	MYO6	1.51
735	Porencephaly-microcephaly-bilateral congenital cataract syndrome	Enrichment	JAM3	1.51
736	Microcystic stromal tumor	Enrichment	CTNNB1	1.51
737	Retinitis pigmentosa 91	Enrichment	IMPG1	1.50
738	Phenylketonuria	Enrichment	COL1A1	1.50
739	Schizencephaly	Enrichment	COL4A1	1.50
740	Arthrogryposis multiplex congenita 2, neurogenic type	Enrichment	COL25A1	1.50
741	Congenital generalized lipodystrophy	Enrichment	FOS	1.50
742	Weill-marchesani syndrome	Enrichment	FBN1	1.50
743	Blood platelet disease	Enrichment	CD36	1.50
744	Corneal dystrophy	Enrichment	COL17A1	1.50
745	Epidermolytic hyperkeratosis	Enrichment	COL7A1	1.50
746	Cerebral malaria	Enrichment	CD36	1.50
747	Rare x-linked non-syndromic sensorineural deafness type dfn	Enrichment	COL4A6	1.50
748	Cleft palate, isolated	Enrichment	COL11A1, GNB1	1.50
749	Dandy-walker syndrome	Enrichment	BRAF, PPP1CB	1.50
750	Dystonia	Enrichment	CAMK2B, GNAL, GNB1	1.48
751	Burkitt lymphoma	Enrichment	MYC	1.48
752	Pseudohypoparathyroidism, type ia	Enrichment	GNAS	1.48
753	Amelogenesis imperfecta, type ig	Enrichment	PRKAR1A	1.48
754	Cutis marmorata telangiectatica congenita	Enrichment	GNA11	1.48
755	Lethal congenital contracture syndrome 3	Enrichment	PIP5K1C	1.48
756	Pseudopseudohypoparathyroidism	Enrichment	GNAS	1.48
757	Neutrophilia, hereditary	Enrichment	PIP4K2B	1.48
758	Bleeding disorder, platelet-type, 19	Enrichment	PRKACG	1.48
759	Night blindness, congenital stationary, type 1h	Enrichment	GNB3	1.48
760	Neutropenia, severe congenital, 7, autosomal recessive	Enrichment	PIP4K2B	1.48
761	Genitourinary and/or brain malformation syndrome	Enrichment	PPP1R12A	1.48
762	Marbach-schaaf neurodevelopmental syndrome	Enrichment	PRKAR1B	1.48
763	Usher syndrome, type iv	Enrichment	PRKAR1A	1.48
764	Noonan syndrome-like disorder with loose anagen hair	Enrichment	PPP1CB	1.48
765	Autosomal dominant hypocalcemia	Enrichment	GNA11	1.48
766	Acrodysostosis	Enrichment	PRKAR1A	1.48
767	Pseudohypoparathyroidism	Enrichment	GNAS	1.48
768	Body mass index quantitative trait locus 19	Enrichment	ADCY3	1.48
769	Severe congenital neutropenia 7	Enrichment	PIP4K2B	1.48
770	Fibrolamellar carcinoma	Enrichment	PRKACA	1.48
771	Intellectual developmental disorder, autosomal dominant 60, with seizures	Enrichment	PIP5K1A	1.48
772	Immune system disease	Enrichment	CDC42	1.48
773	Ciliary dyskinesia, primary, 18	Enrichment	PRKAR1B	1.48
774	B-lymphoblastic leukemia/lymphoma with hyperdiploidy	Enrichment	PIP4K2A	1.48
775	Lodder-merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia	Enrichment	GNB5	1.48
776	Isolated primary pigmented nodular adrenocortical disease	Enrichment	PRKAR1A	1.48
777	Acth-independent macronodular adrenal hyperplasia	Enrichment	GNAS	1.48
778	Cerebral visual impairment	Enrichment	GNB1	1.48
779	Phakomatosis cesioflammea	Enrichment	GNA11	1.48
780	Developmental and epileptic encephalopathy	Enrichment	CACNA1E, CACNA2D2, GNAO1	1.45
781	Corpus callosum, agenesis of	Enrichment	COL4A1, CREBBP	1.45
782	Anterior segment dysgenesis	Enrichment	COL4A1, ITPR1	1.45
783	Isolated corpus callosum agenesis	Enrichment	COL4A1, CREBBP	1.45
784	Rare genetic intellectual disability	Enrichment	CREBBP, GNAO1	1.45
785	Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome	Enrichment	COL4A1, CREBBP	1.45
786	Nephrocalcinosis	Enrichment	CLDN16, CLDN19	1.45
787	Nemaline myopathy	Enrichment	ACTA1, MYO18B	1.45
788	Nephrolithiasis	Enrichment	CLDN16, CLDN19	1.45
789	Cardiomyopathy, familial hypertrophic, 1	Enrichment	MYH6, MYH7, MYH7B	1.45
790	Familial isolated dilated cardiomyopathy	Enrichment	LAMA4, RAF1, VCL	1.43
791	Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency	Enrichment	JAK3	1.42
792	Angioedema, hereditary, 1	Enrichment	PLG	1.42
793	Polycythemia vera	Enrichment	JAK2	1.42
794	Multicentric osteolysis, nodulosis, and arthropathy	Enrichment	MMP2	1.42
795	Muscular dystrophy, congenital, due to integrin alpha-7 deficiency	Enrichment	ITGA7	1.42
796	Immunodeficiency 14a with lymphoproliferation, autosomal dominant	Enrichment	PIK3R1	1.42
797	Epidermolysis bullosa, junctional 6, with pyloric atresia	Enrichment	ITGA6	1.42
798	Hyper ige syndrome	Enrichment	STAT3	1.42
799	Immunodeficiency 14	Enrichment	PIK3R1	1.42
800	Immunodeficiency 44	Enrichment	STAT2	1.42
801	Spermatocytoma	Enrichment	HRAS	1.42
802	Bleeding disorder, platelet-type, 24	Enrichment	ITGB3	1.42
803	Alopecia - intellectual disability syndrome	Enrichment	ITGB6	1.42
804	Distal arthrogryposis	Enrichment	ACTA1, COL25A1, MYH3, MYL11	1.41
805	Polycystic liver disease 1 with or without kidney cysts	Enrichment	FBN1	1.40
806	Epidermolytic hyperkeratosis 1	Enrichment	COL7A1	1.40
807	Arrhythmogenic right ventricular dysplasia, familial, 1	Enrichment	TGFB3	1.40
808	Arthrogryposis, renal dysfunction, and cholestasis 1	Enrichment	FBN1	1.40
809	Goldberg-shprintzen syndrome	Enrichment	FBN1	1.40
810	Muscular dystrophy, limb-girdle, autosomal recessive 23	Enrichment	LAMA2	1.40
811	Fuchs' endothelial dystrophy	Enrichment	COL8A2	1.40
812	Polycystic liver disease 1	Enrichment	FBN1	1.40
813	Night blindness	Enrichment	EFEMP1	1.40
814	Juvenile glaucoma	Enrichment	EFEMP1	1.40
815	Arrhythmogenic right ventricular dysplasia 1	Enrichment	TGFB3	1.40
816	Histiocytoid hemangioma	Enrichment	FOS	1.40
817	Spinocerebellar ataxia 29	Enrichment	ITPR1	1.40
818	Pituitary adenoma 4, acth-secreting	Enrichment	GNAI2	1.40
819	Thumb deformity	Enrichment	CREBBP	1.40
820	Hypogonadotropic hypogonadism 24 with or without anosmia	Enrichment	FSHB	1.40
821	Timothy syndrome	Enrichment	CACNA1C	1.40
822	Night blindness, congenital stationary, type 2a	Enrichment	CACNA1F	1.40
823	Histiocytoma, angiomatoid fibrous	Enrichment	CREB1	1.40
824	Alternating hemiplegia of childhood 1	Enrichment	CACNA1A	1.40
825	Lethal congenital contracture syndrome 8	Enrichment	ADCY6	1.40
826	Immunodeficiency, common variable, 12, with autoimmunity	Enrichment	NFKB1	1.40
827	Long qt syndrome 8	Enrichment	CACNA1C	1.40
828	Acute myeloid leukemia with kat6a-crebbp fusion	Enrichment	CREBBP	1.40
829	Ocular melanoma	Enrichment	PLCB4	1.40
830	Hypopituitarism	Enrichment	GNAI2	1.40
831	Congenital disorder of glycosylation, type iw, autosomal dominant	Enrichment	CACNA1D	1.40
832	Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements	Enrichment	CACNA1B	1.40
833	Common variable immunodeficiency 12	Enrichment	NFKB1	1.40
834	Progressive bulbar palsy	Enrichment	CACNA1A	1.40
835	Hereditary breast ovarian cancer syndrome	Enrichment	BCAR1, KRAS, PTEN	1.39
836	Type 1 diabetes mellitus 2	Enrichment	CAPN10	1.39
837	Ataxia-telangiectasia	Enrichment	BRAF	1.39
838	Nuchal bleb, familial	Enrichment	SOS1	1.39
839	Neonatal nephrocutaneous inflammatory syndrome	Enrichment	EGFR	1.39
840	Muscular dystrophy, limb-girdle, autosomal dominant 4	Enrichment	CAPN3	1.39
841	Autosomal recessive limb-girdle muscular dystrophy type 2a	Enrichment	CAPN3	1.39
842	Laryngeal squamous cell carcinoma	Enrichment	PTEN	1.39
843	Neonatal inflammatory skin and bowel disease	Enrichment	EGFR	1.39
844	Hypertrophic cardiomyopathy	Enrichment	MYH7, MYH7B, MYL2, MYL3	1.38
845	Myeloma, multiple	Enrichment	BRAF, KRAS, PIK3R2	1.37
846	Muscular dystrophy	Enrichment	CAPN3, COL6A2	1.36
847	Atrial septal defect 1	Enrichment	TGFB2	1.33
848	Spondyloepiphyseal dysplasia with congenital joint dislocations	Enrichment	ACAN	1.33
849	Developmental dysplasia of the hip 1	Enrichment	COL2A1	1.33
850	Corneal dystrophy, posterior polymorphous, 1	Enrichment	COL8A2	1.33
851	Hemangioma, capillary infantile	Enrichment	KDR	1.33
852	Wiedemann-steiner syndrome	Enrichment	SMC3	1.33
853	Anterior segment dysgenesis 5	Enrichment	COL4A1	1.33
854	Inflammatory bowel disease 25, autosomal recessive	Enrichment	TGFB1	1.33
855	Congenital fibrosis of the extraocular muscles	Enrichment	COL25A1	1.33
856	Pain disorder	Enrichment	COL5A1	1.33
857	Il10-related early-onset inflammatory bowel disease	Enrichment	TGFB1	1.33
858	Cone-rod dystrophy 2	Enrichment	CACNA1F, CACNA2D4, IMPG2, ITGA4	1.32
859	Aortic aneurysm, familial thoracic 7	Enrichment	MYLK	1.31
860	High-grade b-cell lymphoma double-hit/triple-hit	Enrichment	MYC	1.31
861	Cushing syndrome due to bilateral macronodular adrenocortical disease	Enrichment	GNAS	1.31
862	Hydrops fetalis, nonimmune	Enrichment	ACTA1, HRAS	1.30
863	Normosmic congenital hypogonadotropic hypogonadism	Enrichment	GNRH1, GNRHR	1.30
864	Amelogenesis imperfecta, type iiia	Enrichment	ITGB6	1.30
865	Erythrocytosis, familial, 1	Enrichment	JAK2	1.30
866	Diffuse gastric and lobular breast cancer syndrome	Enrichment	KRAS	1.30
867	Budd-chiari syndrome	Enrichment	JAK2	1.30
868	Megalencephaly-capillary malformation-polymicrogyria syndrome	Enrichment	PIK3R2	1.30
869	Chromosome 22q11.2 deletion syndrome, distal	Enrichment	MAPK1	1.30
870	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Enrichment	PIK3R2	1.30
871	Epidermolysis bullosa simplex 5c, with pyloric atresia	Enrichment	ITGB4	1.30
872	Retinitis pigmentosa 26	Enrichment	ITGA4	1.30
873	Lung sarcomatoid carcinoma	Enrichment	KRAS	1.30
874	Pilocytic astrocytoma	Enrichment	KRAS	1.30
875	Epidermolytic nevus	Enrichment	HRAS	1.30
876	Adenosine deaminase deficiency	Enrichment	JAK3	1.30
877	Pseudomyogenic hemangioendothelioma	Enrichment	SERPINE1	1.30
878	Severe covid-19	Enrichment	ITGAV, JAK3	1.27
879	Nemaline myopathy 2	Enrichment	ACTA1	1.27
880	Thyroid cancer, nonmedullary, 1	Enrichment	BRAF	1.27
881	Autoimmune lymphoproliferative syndrome	Enrichment	ACTA2	1.27
882	Neurofibromatosis-noonan syndrome	Enrichment	MAP2K2	1.27
883	Aminoacylase 1 deficiency	Enrichment	ACTB	1.27
884	Craniopharyngioma	Enrichment	BRAF	1.27
885	Newborn respiratory distress syndrome	Enrichment	BRAF	1.27
886	Intermediate nemaline myopathy	Enrichment	ACTA1	1.27
887	Glioma	Enrichment	PTEN	1.27
888	Gingival fibromatosis	Enrichment	SOS1	1.27
889	Male infertility due to gonadal dysgenesis or sperm disorder	Enrichment	SOS2	1.27
890	Esophageal cancer	Enrichment	TGFBR2	1.26
891	Multiple enchondromatosis, maffucci type	Enrichment	COL2A1	1.26
892	West syndrome	Enrichment	DNM1, GNAO1, PLCB1	1.23
893	Van der woude syndrome 1	Enrichment	CACNA1E	1.23
894	Gillespie syndrome	Enrichment	ITPR1	1.23
895	Myopathy, centronuclear, x-linked	Enrichment	DNM2	1.23
896	Developmental and epileptic encephalopathy 31b	Enrichment	DNM1	1.23
897	Intraocular pressure quantitative trait locus	Enrichment	CREBBP	1.23
898	Melanoma of soft tissue	Enrichment	CREB1	1.23
899	Thyrotoxic periodic paralysis	Enrichment	CACNA1S	1.23
900	Hypomyelination neuropathy-arthrogryposis syndrome	Enrichment	ADCY6	1.23
901	Hereditary episodic ataxia	Enrichment	CACNA1A	1.23
902	Aortic aneurysm, familial thoracic 4	Enrichment	MYH11	1.22
903	Blepharocheilodontic syndrome 1	Enrichment	CTNND1	1.22
904	Arthrogryposis, distal, type 2a	Enrichment	MYH3	1.22
905	Granulomatous disease, chronic, autosomal recessive, 1	Enrichment	NCF1	1.22
906	Ebstein anomaly	Enrichment	MYH7	1.22
907	Osteopathia striata with cranial sclerosis	Enrichment	CTNNB1	1.22
908	Cataract 35	Enrichment	MYH9	1.22
909	West nile virus	Enrichment	CCR5	1.22
910	Isolated growth hormone deficiency, type iii, with agammaglobulinemia	Enrichment	BTK	1.22
911	Deafness, autosomal dominant 30	Enrichment	MYO3A	1.22
912	Griscelli syndrome, type 3	Enrichment	MYO5A	1.22
913	Arthrogryposis, distal, type 7	Enrichment	MYH8	1.22
914	Ventricular tachycardia, catecholaminergic polymorphic, 4	Enrichment	CALM1	1.22
915	Granulomatous disease, chronic, autosomal recessive, 3	Enrichment	NCF4	1.22
916	Long qt syndrome 14	Enrichment	CALM1	1.22
917	Arthrogryposis, distal, type 2b3	Enrichment	MYH3	1.22
918	Megacystis-microcolon-intestinal hypoperistalsis syndrome 2	Enrichment	MYH11	1.22
919	Blepharocheilodontic syndrome 2	Enrichment	CTNND1	1.22
920	Agammaglobulinemia, x-linked	Enrichment	BTK	1.22
921	Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity	Enrichment	ESAM	1.22
922	Atrial septal defect 3	Enrichment	MYH6	1.22
923	Childhood hepatocellular carcinoma	Enrichment	CTNNB1	1.22
924	Lymphoproliferative syndrome	Enrichment	ITK	1.22
925	Cardiomyopathy, familial hypertrophic, 10	Enrichment	MYL2	1.22
926	Deafness, autosomal recessive 29	Enrichment	CLDN14	1.22
927	Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome	Enrichment	MYH2	1.22
928	Pseudosarcomatous fibromatosis	Enrichment	MYH9	1.22
929	Visceral myopathy 2	Enrichment	MYH11	1.22
930	Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy	Enrichment	MYL2	1.22
931	Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism	Enrichment	MYO18B	1.22
932	Arthrogryposis, distal, type 1c	Enrichment	MYL11	1.22
933	Megacystis-microcolon-intestinal hypoperistalsis syndrome 4	Enrichment	MYL9	1.22
934	Juvenile nasopharyngeal angiofibroma	Enrichment	CTNNB1	1.22
935	Klippel-feil anomaly-myopathy-facial dysmorphism syndrome	Enrichment	MYO18B	1.22
936	Childhood-onset autosomal recessive myopathy with external ophthalmoplegia	Enrichment	MYH2	1.22
937	Teratoma	Enrichment	CTNNB1	1.22
938	Carney complex - trismus - pseudocamptodactyly syndrome	Enrichment	MYH8	1.22
939	Gastroesophageal reflux	Enrichment	COL5A1	1.20
940	Childhood-onset schizophrenia	Enrichment	FREM2	1.20
941	Congenital nervous system abnormality	Enrichment	CACNA1A, CAMK2B, CREBBP, GNAO1, GNB5	1.20
942	Nervous system disease	Enrichment	CACNA1A, CAMK2B, CREBBP, GNAO1, GNB5	1.20
943	Alzheimer disease 2	Enrichment	PLAU	1.20
944	Epidermolysis bullosa simplex 1c, localized	Enrichment	ITGB4	1.20
945	Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative	Enrichment	JAK3	1.20
946	Glanzmann thrombasthenia 2	Enrichment	ITGB3	1.20
947	Myeloproliferative neoplasm	Enrichment	JAK2	1.20
948	Aplasia cutis congenita	Enrichment	ITGB4	1.20
949	Spastic paraplegia 17, autosomal dominant	Enrichment	GNG3	1.19
950	Pseudohypoparathyroidism, type ib	Enrichment	GNAS	1.19
951	Lipodystrophy, congenital generalized, type 2	Enrichment	GNG3	1.19
952	Arrhythmogenic right ventricular dysplasia, familial, 10	Enrichment	PRKAR1A	1.19
953	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	Enrichment	CDC42	1.19
954	Centronuclear myopathy	Enrichment	CACNA1S, DNM2	1.18
955	Body mass index quantitative trait locus 11	Enrichment	ADCY3, GNAS, MYH9, SDC3	1.18
956	Macrocephaly/autism syndrome	Enrichment	PTEN	1.17
957	Mosaic variegated aneuploidy syndrome 1	Enrichment	PAK6	1.17
958	Autosomal recessive limb-girdle muscular dystrophy type 2b	Enrichment	CAPN3	1.17
959	Hemangioma	Enrichment	PTEN	1.17
960	Acute megakaryocytic leukemia	Enrichment	PTEN	1.17
961	Hemimegalencephaly	Enrichment	PTEN	1.17
962	Coloboma of choroid and retina	Enrichment	ACTG1	1.17
963	Severe congenital nemaline myopathy	Enrichment	ACTA1	1.17
964	Cornelia de lange syndrome 1	Enrichment	SMC3	1.15
965	Cornelia de lange syndrome	Enrichment	SMC3	1.15
966	Chronic mucocutaneous candidiasis	Enrichment	STAT1	1.13
967	Peters-plus syndrome	Enrichment	COL4A1	1.11
968	Migraine, familial hemiplegic, 1	Enrichment	CACNA1A	1.11
969	Chorea, benign hereditary	Enrichment	ADCY5	1.11
970	Spinocerebellar ataxia 6	Enrichment	CACNA1A	1.11
971	Aland island eye disease	Enrichment	CACNA1F	1.11
972	Developmental and epileptic encephalopathy 2	Enrichment	CACNA1A	1.11
973	Ventricular fibrillation, paroxysmal familial, 1	Enrichment	CACNA1C	1.11
974	Spinocerebellar ataxia 15	Enrichment	ITPR1	1.11
975	Developmental and epileptic encephalopathy 12	Enrichment	PLCB1	1.11
976	Developmental and epileptic encephalopathy 42	Enrichment	CACNA1A	1.11
977	Cerebellar atrophy with seizures and variable developmental delay	Enrichment	CACNA2D2	1.11
978	Developmental and epileptic encephalopathy 52	Enrichment	CACNA1A	1.11
979	Hereditary ataxia	Enrichment	PRKCG	1.11
980	Malignant hyperthermia	Enrichment	CACNA1S	1.11
981	Episodic ataxia	Enrichment	CACNA1A	1.11
982	Familial or sporadic hemiplegic migraine	Enrichment	CACNA1A	1.11
983	Familial hypertrophic cardiomyopathy	Enrichment	MYH7, MYL2, MYL3	1.10
984	Muscular dystrophy, limb-girdle, autosomal recessive 1	Enrichment	CAPN3	1.10
985	Wilms tumor 5	Enrichment	BRAF	1.10
986	Capillary malformations, congenital	Enrichment	GNA11	1.09
987	Diffuse cutaneous systemic sclerosis	Enrichment	CAV1	1.09
988	Primary ovarian insufficiency	Enrichment	KDR, THBS1	1.09
989	Cone dystrophy	Enrichment	CACNA2D4, GNAT2	1.08
990	Ichthyosis	Enrichment	COL7A1	1.07
991	Essential thrombocythemia	Enrichment	JAK2	1.06
992	Epidermolysis bullosa simplex	Enrichment	ITGB4	1.06
993	Amelogenesis imperfecta type 2	Enrichment	MMP20	1.06
994	Oligoarticular juvenile idiopathic arthritis	Enrichment	STAT4	1.06
995	Overgrowth syndrome	Enrichment	PIK3R1	1.06
996	Rheumatoid factor-negative juvenile idiopathic arthritis	Enrichment	STAT4	1.06
997	Desmoid disease, hereditary	Enrichment	CTNNB1	1.05
998	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	Enrichment	MYH9	1.05
999	Klippel-feil syndrome 1, autosomal dominant	Enrichment	MYO18B	1.05
1000	Autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia	Enrichment	CYBA	1.05
1001	Deafness, autosomal recessive 3	Enrichment	MYO15A	1.05
1002	Agammaglobulinemia 1, autosomal recessive	Enrichment	BTK	1.05
1003	Cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction	Enrichment	MYH7B	1.05
1004	Spondylocarpotarsal synostosis syndrome	Enrichment	MYH3	1.05
1005	Hepatitis c virus	Enrichment	CCR5	1.05
1006	Neurodevelopmental disorder with spastic diplegia and visual defects	Enrichment	CTNNB1	1.05
1007	Thrombocytopenia 5	Enrichment	CLDN16	1.05
1008	Anus, imperforate	Enrichment	CTNNB1	1.05
1009	Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy	Enrichment	MYH15	1.05
1010	Exudative vitreoretinopathy 7	Enrichment	CTNNB1	1.05
1011	Agammaglobulinemia 1	Enrichment	BTK	1.05
1012	Desmoid tumor	Enrichment	CTNNB1	1.05
1013	Butterfly-shaped pigment dystrophy	Enrichment	CTNNA1	1.05
1014	Qualitative or quantitative defects of beta-myosin heavy chain	Enrichment	MYH7	1.05
1015	Idiopathic camptocormia	Enrichment	MYH7	1.05
1016	Autoimmune polyendocrine syndrome type 1	Enrichment	CYBA	1.05
1017	Congenital diarrhea	Enrichment	MYO1A	1.05
1018	Tricuspid valve insufficiency	Enrichment	MYH11	1.05
1019	Cerebral sinovenous thrombosis	Enrichment	F2	1.05
1020	Spastic ataxia	Enrichment	CACNA1G, CACNB4, ITPR1	1.04
1021	Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant	Enrichment	TGFB3	1.03
1022	Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant	Enrichment	TGFB3	1.03
1023	Postsynaptic congenital myasthenic syndromes	Enrichment	COL13A1	1.03
1024	Fetal akinesia deformation sequence 1	Enrichment	ACTA1, FBN2	1.03
1025	Childhood-onset nemaline myopathy	Enrichment	ACTA1	1.03
1026	Cardiomyopathy, dilated, 1e	Enrichment	MYH7, MYL2	1.03
1027	Hemihyperplasia, isolated	Enrichment	RHOA	1.02
1028	Limited scleroderma	Enrichment	CAV1	1.02
1029	Episodic ataxia, type 2	Enrichment	CACNA1A	1.01
1030	Night blindness, congenital stationary, type 1c	Enrichment	GNAT1	1.01
1031	Developmental and epileptic encephalopathy 31a	Enrichment	DNM1	1.01
1032	Heart conduction disease	Enrichment	CACNA1C	1.01
1033	Amblyopia	Enrichment	CACNA1F	1.01
1034	Cardiac arrest	Enrichment	CACNA2D1	1.01
1035	Congenital short qt syndrome	Enrichment	CACNA2D1	1.01
1036	Permanent neonatal diabetes mellitus	Enrichment	STAT3	1.01
1037	Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly	Enrichment	COL5A1	1.00
1038	Clubfoot	Enrichment	COL5A1	1.00
1039	Strabismus	Enrichment	CACNA1A, GNB1	0.99
1040	Neuromuscular disease	Enrichment	ACTA1, MYH7	0.98
1041	Lymphoma, non-hodgkin, familial	Enrichment	BRAF	0.98
1042	Mosaic variegated aneuploidy syndrome	Enrichment	PAK6	0.98
1043	Walker-warburg syndrome	Enrichment	COL4A1	0.97
1044	Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant	Enrichment	TGFB3	0.97
1045	Leukemia, acute lymphoblastic 3	Enrichment	JAK2	0.96
1046	Renal agenesis, bilateral	Enrichment	ITGA8	0.96
1047	Brachydactyly	Enrichment	GNAS	0.95
1048	Congenital myopathy	Enrichment	ACTA1, MYH7	0.95
1049	Atypical hemolytic-uremic syndrome	Enrichment	COL4A5	0.94
1050	Lynch syndrome	Enrichment	TGFBR2	0.94
1051	Hypokalemic periodic paralysis, type 1	Enrichment	CACNA1S	0.94
1052	Myopathy, centronuclear, 1	Enrichment	DNM2	0.94
1053	Rubinstein-taybi syndrome 1	Enrichment	CREBBP	0.94
1054	Chromosome 16p13.3 deletion syndrome, proximal	Enrichment	CREBBP	0.94
1055	Spinocerebellar ataxia, autosomal recessive 16	Enrichment	ITPR1	0.94
1056	Hypertrichosis	Enrichment	CREBBP	0.94
1057	Childhood absence epilepsy	Enrichment	CACNA1H	0.94
1058	Infertility	Enrichment	GNRHR	0.94
1059	Myopathy, distal, 1	Enrichment	MYH7	0.93
1060	Klippel-feil syndrome 2, autosomal recessive	Enrichment	MYO18B	0.93
1061	Congenital myopathy 7b, myosin storage, autosomal recessive	Enrichment	MYH7	0.93
1062	Polyposis syndrome, hereditary mixed, 1	Enrichment	CTNNA1	0.93
1063	Pilomatrixoma	Enrichment	CTNNB1	0.93
1064	Congenital myopathy 7a, myosin storage, autosomal dominant	Enrichment	MYH7	0.93
1065	Congenital myopathy 6 with ophthalmoplegia	Enrichment	MYH2	0.93
1066	Alazami syndrome	Enrichment	CTNNB1	0.93
1067	Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1b	Enrichment	MYH3	0.93
1068	Hyaline body myopathy	Enrichment	MYH7	0.93
1069	Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)	Enrichment	MYH11	0.93
1070	Adult hepatocellular carcinoma	Enrichment	EGF	0.93
1071	Ventricular septal defect	Enrichment	BRAF	0.93
1072	Limb-girdle muscular dystrophy	Enrichment	CAPN3	0.93
1073	Gastric cancer	Enrichment	KRAS, PTEN	0.92
1074	Perrault syndrome 1	Enrichment	FBN1	0.92
1075	Autosomal non-syndromic agammaglobulinemia	Enrichment	PIK3R1	0.91
1076	Williams-beuren syndrome	Enrichment	ELN, NCF1	0.91
1077	Hypothyroidism	Enrichment	GNB1	0.90
1078	Deafness, autosomal recessive	Enrichment	CLDN14, MYH9, MYO15A, MYO7A	0.90
1079	Cat eye syndrome	Enrichment	ACTG1	0.89
1080	Autosomal recessive nonsyndromic deafness	Enrichment	CLDN14, MYH9, MYO15A, MYO7A	0.88
1081	Common variable immunodeficiency	Enrichment	NFKB1	0.88
1082	Specific learning disability	Enrichment	MAPK1	0.88
1083	Hepatoblastoma	Enrichment	COL7A1, CTNNB1	0.87
1084	Polycystic kidney disease	Enrichment	COL4A4	0.87
1085	Migraine with or without aura 1	Enrichment	CAPN3	0.85
1086	Meningioma, familial	Enrichment	PTEN	0.85
1087	Uterine corpus cancer	Enrichment	PTEN	0.85
1088	Exudative vitreoretinopathy 1	Enrichment	CTNNB1	0.84
1089	Martsolf syndrome 1	Enrichment	ARHGAP5	0.84
1090	Arthrogryposis, distal, type 2b1	Enrichment	MYH3	0.84
1091	Deafness, autosomal recessive 9	Enrichment	MYO15A	0.84
1092	Deafness, autosomal recessive 63	Enrichment	MYH9	0.84
1093	Otof-related hearing loss	Enrichment	MYO15A	0.84
1094	Alternating hemiplegia of childhood	Enrichment	CACNA1A	0.82
1095	Choreatic disease	Enrichment	GNAO1	0.82
1096	Difference of sex development	Enrichment	CACNA1A	0.82
1097	Muscular dystrophy, limb-girdle, autosomal recessive 2	Enrichment	CAPN3	0.81
1098	Neural tube defects	Enrichment	ITGB1	0.81
1099	Protein-deficiency anemia	Enrichment	NRAS	0.81
1100	Nk-cell enteropathy	Enrichment	JAK3	0.81
1101	Visceral heterotaxy	Enrichment	LEFTY2	0.79
1102	Aortic valve disease 1	Enrichment	SOS1	0.78
1103	Inflammatory bowel disease 1	Enrichment	PRKCQ	0.78
1104	Developmental and epileptic encephalopathy 14	Enrichment	PLCB1	0.78
1105	Hypogonadotropic hypogonadism	Enrichment	GNRHR	0.78
1106	Leukemia, acute lymphoblastic	Enrichment	GNB1	0.77
1107	Myelodysplastic syndrome	Enrichment	GNB1	0.77
1108	Heritable pulmonary arterial hypertension	Enrichment	CAV1	0.77
1109	Malaria	Enrichment	CD36	0.77
1110	Weyers acrofacial dysostosis	Enrichment	CTNNB1	0.77
1111	Pendred syndrome	Enrichment	DIAPH1	0.77
1112	Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy	Enrichment	CALM1	0.77
1113	Inherited arrhythmogenic cardiomyopathy	Enrichment	MYH7	0.77
1114	Cleft lip with or without cleft palate	Enrichment	CTNND1	0.77
1115	Autism	Enrichment	CAMK2G, COL11A1, CREBBP	0.75
1116	46,xy partial gonadal dysgenesis	Enrichment	SOS1	0.75
1117	Ciliary dyskinesia, primary, 3	Enrichment	NFKB1	0.74
1118	Achromatopsia	Enrichment	GNAT2	0.74
1119	Auditory neuropathy	Enrichment	DIAPH1, MYO7A	0.73
1120	Wilms tumor 1	Enrichment	BRAF	0.72
1121	Tetralogy of fallot	Enrichment	KDR	0.72
1122	Autism spectrum disorder	Enrichment	MAP2K1, PTEN, SMC3	0.72
1123	Meniere disease	Enrichment	MYO7A	0.71
1124	Thrombophilia due to thrombin defect	Enrichment	F2	0.71
1125	Familial isolated restrictive cardiomyopathy	Enrichment	MYL2	0.71
1126	Alzheimer disease, familial, 1	Enrichment	PLAU	0.70
1127	Charcot-marie-tooth disease	Enrichment	DNM2, LAMA2	0.70
1128	Gliosarcoma	Enrichment	EGFR	0.70
1129	Epilepsy, myoclonic juvenile	Enrichment	CACNB4	0.70
1130	Epilepsy, idiopathic generalized	Enrichment	CACNA1H	0.70
1131	Movement disease	Enrichment	GNAO1	0.70
1132	Melanoma, cutaneous malignant 1	Enrichment	BRAF	0.68
1133	Giant cell glioblastoma	Enrichment	EGFR	0.68
1134	Cardiac conduction defect	Enrichment	CACNA1C	0.66
1135	Congenital long qt syndrome	Enrichment	ITPR3	0.66
1136	Behcet syndrome	Enrichment	STAT4	0.66
1137	Arthrogryposis, distal, type 1a	Enrichment	MYH3	0.66
1138	Basal ganglia calcification, idiopathic, 1	Enrichment	JAM2	0.66
1139	Perrault syndrome	Enrichment	CLDN14	0.66
1140	Exudative vitreoretinopathy	Enrichment	CTNNB1	0.66
1141	Catecholaminergic polymorphic ventricular tachycardia 1	Enrichment	CALM1	0.66
1142	Myocarditis	Enrichment	MYH7	0.66
1143	Hypoplastic left heart syndrome	Enrichment	MYH6	0.66
1144	Cystic fibrosis	Enrichment	TGFB1	0.64
1145	Stereotypic movement disorder	Enrichment	DNM1	0.63
1146	Autosomal recessive limb-girdle muscular dystrophy	Enrichment	CAPN3	0.63
1147	Complex neurodevelopmental disorder	Enrichment	CACNA1C, GNB2, PAK3, RAC3	0.62
1148	Retinitis pigmentosa	Enrichment	COL18A1, IMPG1, IMPG2	0.61
1149	Familial isolated arrhythmogenic right ventricular dysplasia	Enrichment	MYH7	0.61
1150	Hypogonadotropic hypogonadism 7 with or without anosmia	Enrichment	GNRHR	0.61
1151	Heart disease	Enrichment	CREBBP	0.61
1152	Hypertension, essential	Enrichment	GNB3	0.60
1153	Myocardial infarction	Enrichment	ITGB3	0.60
1154	Endometrial cancer	Enrichment	PTEN	0.59
1155	Lissencephaly	Enrichment	ACTG1	0.59
1156	Pancreatic cancer	Enrichment	KRAS	0.56
1157	Asthma	Enrichment	CCL11	0.54
1158	Usher syndrome type 2	Enrichment	MYO7A	0.54
1159	Left ventricular noncompaction	Enrichment	MYH7, MYH7B	0.54
1160	Early infantile developmental and epileptic encephalopathy	Enrichment	GNAO1	0.51
1161	Attention deficit-hyperactivity disorder	Enrichment	GNB5	0.51
1162	Restrictive cardiomyopathy	Enrichment	MYH7	0.51
1163	Precursor t-cell acute lymphoblastic leukemia	Enrichment	MYC	0.49
1164	Visceral heterotaxy 5	Enrichment	MMP21	0.48
1165	Microphthalmia/coloboma 12	Enrichment	MYH10	0.48
1166	Prostate cancer	Enrichment	PTEN	0.48
1167	Severe combined immunodeficiency	Enrichment	JAK3	0.46
1168	Medulloblastoma	Enrichment	CTNNB1	0.45
1169	Coloboma of macula	Enrichment	MYH10	0.43
1170	Usher syndrome, type i	Enrichment	MYO7A	0.43
1171	Wolff-parkinson-white syndrome	Enrichment	MYH7	0.41
1172	Arrhythmogenic right ventricular cardiomyopathy	Enrichment	CTNNA3	0.41
1173	Isolated congenital microcephaly	Enrichment	OCLN	0.41
1174	Non-syndromic x-linked intellectual disability	Enrichment	ARHGEF6	0.40
1175	Developmental and epileptic encephalopathy 1	Enrichment	GNAO1	0.40
1176	Sudden infant death syndrome	Enrichment	CALM2	0.39
1177	Polycystic liver disease	Enrichment	CTNNB1	0.39
1178	Autosomal dominant polycystic liver disease	Enrichment	CTNNB1	0.39
1179	Patent foramen ovale	Enrichment	MYH6	0.37
1180	Craniosynostosis	Enrichment	CTNNA1	0.33
1181	Hepatocellular carcinoma	Enrichment	CTNNB1	0.30
1182	Familial atrial fibrillation	Enrichment	MYL4	0.28
1183	Inherited cancer-predisposing syndrome	Enrichment	EGFR, PTEN	0.26
1184	Benign epilepsy with centrotemporal spikes	Enrichment	PLCB1	0.25
1185	Centralopathic epilepsy	Enrichment	PLCB1	0.23
1186	Optic atrophy plus syndrome	Enrichment	CACNA1F	0.23
1187	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	Enrichment	PFN1	0.21
1188	Usher syndrome	Enrichment	MYO7A	0.19
1189	Male infertility	Enrichment	CLDN2	0.19
1190	Epilepsy	Enrichment	DIAPH1	0.15
1191	Primary ciliary dyskinesia	Enrichment	PRKAR1B	0.14
1192	Autosomal recessive non-syndromic intellectual disability	Enrichment	EZR	0.08

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

Integrin Pathway

Pathway Network for Integrin Pathway

Pathway network for the Integrin Pathway SuperPath

Member Pathways for Integrin Pathway

Pathways in the Integrin Pathway SuperPath

Gene overlap in member pathways for Integrin Pathway SuperPath

Associated Genes for Integrin Pathway

Associated Disorders for Integrin Pathway

Disorders associated with Integrin Pathway SuperPath

STRING Interaction Network for Integrin Pathway

Sources for Integrin Pathway