Response to elevated platelet cytosolic Ca2+

Pathway network for the Response to elevated platelet cytosolic Ca2+ SuperPath

Sources:

Reactome

Pathways in the Response to elevated platelet cytosolic Ca2+ SuperPath

#	Name	Source	Genes
1	Response to elevated platelet cytosolic Ca2+	Reactome	A1BG A2M ABCC4 ACTN1 ACTN2 ACTN4 AHSG ALB ALDOA ANXA5 APLP2 APOA1 APOH APOOL APP BRPF3 CALM1 CALM2 CALM3 CALU CAP1 CD109 CD36 CD63 CD9 CDC37L1 CFD CFL1 CHID1 CLEC3B CLU CTSW CYB5R1 CYRIB ECM1 EGF ENDOD1 F13A1 F5 F8 FAM3C FERMT3 FGA FGB FGG FLNA FN1 GAS6 GTPBP2 HABP4 HGF HRG HSPA5 IGF1 IGF2 ISLR ITGA2B ITGB3 ITIH3 ITIH4 KNG1 LAMP2 LEFTY2 LGALS3BP LHFPL2 LY6G6F MAGED2 MANF MMRN1 NHLRC2 OLA1 ORM1 ORM2 PCDH7 PCYOX1L PDGFA PDGFB PECAM1 PF4 PFN1 PHACTR2 PLEK PLG PPBP PPIA PRKCA PRKCB PRKCG PROS1 PSAP QSOX1 RAB27B RARRES2 SCCPDH SCG3 SELENOP SELP SERPINA1 SERPINA3 SERPINA4 SERPINE1 SERPINF2 SERPING1 SOD1 SPARC SPP2 SRGN STX4 STXBP2 STXBP3 SYTL4 TAGLN2 TEX264 TF TGFB1 TGFB2 TGFB3 THBS1 TIMP1 TIMP3 TLN1 TMSB4X TMX3 TOR4A TTN TUBA4A VCL VEGFA VEGFB VEGFC VEGFD VTI1B VWF WDR1 (see all 134) (see less)
2	Hemostasis	Reactome	A1BG A2M AAMP ABCC4 ABHD12 ABHD6 ABL1 ACTB ACTN1 ACTN2 ACTN4 ADAMTS13 ADRA2A ADRA2B ADRA2C AHSG AK3 AKAP1 AKAP10 AKT1 ALB ALDOA ANGPT1 ANGPT2 ANGPT4 ANXA2 ANXA5 APBB1IP APLP2 APOA1 APOB APOH APOOL APP ARRB1 ARRB2 ATP1B1 ATP1B2 ATP1B3 ATP2A1 ATP2A2 ATP2A3 ATP2B1 ATP2B2 ATP2B3 ATP2B4 BCAR1 BRPF3 BSG C1QBP CABLES1 CABLES2 CALM1 CALM2 CALM3 CALU CAP1 CAPZA1 CAPZA2 CAPZB CARMIL1 CAV1 CBX5 CD109 CD177 CD2 CD244 CD36 CD44 CD47 CD48 CD58 CD63 CD74 CD84 CD9 CD99 CD99L2 CDC37L1 CDC42 CDK2 CDK5 CEACAM1 CEACAM3 CEACAM5 CEACAM6 CEACAM8 CENPE CFD CFL1 CHID1 CLEC1B CLEC3B CLU COL1A1 COL1A2 CRK CSK CTSW CXADR CYB5R1 CYRIB DAGLA DAGLB DGKA DGKB DGKD DGKE DGKG DGKH DGKI DGKK DGKQ DGKZ DOCK1 DOCK10 DOCK11 DOCK2 DOCK3 DOCK4 DOCK5 DOCK6 DOCK7 DOCK8 DOCK9 DOK2 ECM1 EGF EHD1 EHD2 EHD3 ENDOD1 EPCAM ESAM F10 F11 F11R F12 F13A1 F13B F2 F2R F2RL2 F2RL3 F3 F5 F7 F8 F9 FAM3C FCAMR FCER1G FERMT3 FGA FGB FGG FGR FLNA FN1 FYN GAS6 GATA1 GATA2 GATA3 GATA4 GATA5 GATA6 GLG1 GNA11 GNA12 GNA13 GNA14 GNA15 GNAI1 GNAI2 GNAI3 GNAQ GNAS GNAT3 GNB1 GNB2 GNB3 GNB4 GNB5 GNG10 GNG11 GNG12 GNG13 GNG2 GNG3 GNG4 GNG5 GNG7 GNG8 GNGT1 GNGT2 GP1BA GP1BB GP5 GP6 GP9 GPC1 GRB14 GRB2 GRB7 GTPBP2 GUCY1A1 GUCY1A2 GUCY1B1 GYPA GYPB GYPC H3-3A H3-3B H3C1 H3C10 H3C11 H3C12 H3C13 H3C14 H3C15 H3C2 H3C3 H3C4 H3C6 H3C7 H3C8 HABP4 HBB HBD HBE1 HBG1 HBG2 HDAC1 HDAC2 HGF HMG20B HRAS HRG HSPA5 IFNA1 IFNA10 IFNA13 IFNA14 IFNA16 IFNA17 IFNA2 IFNA21 IFNA4 IFNA5 IFNA6 IFNA7 IFNA8 IFNB1 IGF1 IGF2 IGLL1 INPP5D IRAG1 IRF1 IRF2 ISLR ITGA1 ITGA10 ITGA2 ITGA2B ITGA3 ITGA4 ITGA5 ITGA6 ITGAL ITGAM ITGAV ITGAX ITGB1 ITGB2 ITGB3 ITIH3 ITIH4 ITPK1 ITPR1 ITPR2 ITPR3 JAK2 JAM2 JAM3 JAML JCHAIN JMJD1C KCNMA1 KCNMB1 KCNMB2 KCNMB3 KCNMB4 KDM1A KIF11 KIF12 KIF13B KIF15 KIF16B KIF18A KIF18B KIF19 KIF1A KIF1B KIF1C KIF20A KIF20B KIF21A KIF21B KIF22 KIF23 KIF25 KIF26A KIF26B KIF27 KIF2A KIF2B KIF2C KIF3A KIF3B KIF3C KIF4A KIF4B KIF5A KIF5B KIF6 KIF9 KIFAP3 KIFC1 KIFC2 KLC1 KLC2 KLC3 KLC4 KLKB1 KNG1 KRAS L1CAM LAMP2 LAT LCK LCP2 LEFTY2 LGALS3BP LHFPL2 LRP8 LY6G6F LYN MAFF MAFG MAFK MAG MAGED2 MANF MAPK1 MAPK14 MAPK3 MERTK MFN1 MFN2 MGLL MICAL1 MIF MMP1 MMRN1 MPIG6B MPL MYB NFE2 NHLRC2 NOS1 NOS2 NOS3 NRAS OLA1 OLR1 ORAI1 ORAI2 ORM1 ORM2 P2RX1 P2RX2 P2RX3 P2RX4 P2RX5 P2RX6 P2RX7 P2RY1 P2RY12 PAFAH2 PCDH7 PCYOX1L PDE10A PDE11A PDE1A PDE1B PDE2A PDE5A PDE9A PDGFA PDGFB PDPK1 PDPN PECAM1 PF4 PF4V1 PFN1 PHACTR2 PHF21A PICK1 PIK3CA PIK3CB PIK3CG PIK3R1 PIK3R2 PIK3R3 PIK3R5 PIK3R6 PLA2G4A PLAT PLAU PLAUR PLCG1 PLCG2 PLEK PLG PPBP PPIA PPIL2 PPP2CA PPP2CB PPP2R1A PPP2R1B PPP2R5A PPP2R5B PPP2R5C PPP2R5D PPP2R5E PRCP PRKACA PRKACB PRKACG PRKAR1A PRKAR1B PRKAR2A PRKAR2B PRKCA PRKCB PRKCD PRKCE PRKCG PRKCH PRKCZ PRKG1 PRKG2 PROC PROCR PROS1 PRTN3 PSAP PSG1 PSG11 PSG2 PSG3 PSG4 PSG5 PSG6 PSG7 PSG8 PSG9 PTGIR PTK2 PTPN1 PTPN11 PTPN6 QSOX1 RAB27B RAB5A RAC1 RAC2 RACGAP1 RAD51B RAD51C RAF1 RAP1A RAP1B RAPGEF3 RAPGEF4 RARRES2 RASGRP1 RASGRP2 RBSN RCOR1 RHOA RHOB RHOG S100A10 SCCPDH SCG3 SDC1 SDC2 SDC3 SDC4 SELE SELENOP SELL SELP SELPLG SERPINA1 SERPINA3 SERPINA4 SERPINA5 SERPINB2 SERPINB6 SERPINB8 SERPINC1 SERPIND1 SERPINE1 SERPINE2 SERPINF2 SERPING1 SH2B1 SH2B2 SH2B3 SHC1 SIN3A SIRPA SIRPG SLC16A1 SLC16A3 SLC16A8 SLC3A2 SLC7A10 SLC7A11 SLC7A5 SLC7A6 SLC7A7 SLC7A8 SLC7A9 SLC8A1 SLC8A2 SLC8A3 SOD1 SOS1 SPARC SPN SPP2 SRC SRGN SRI STIM1 STX4 STXBP2 STXBP3 SYK SYTL4 TAGLN2 TBXA2R TEK TEX264 TF TFPI TGFB1 TGFB2 TGFB3 THBD THBS1 THPO TIMP1 TIMP3 TLN1 TMSB4X TMX3 TNFRSF10D TOR4A TP53 TREM1 TRPC3 TRPC6 TRPC7 TSPAN7 TTN TUBA1A TUBA1B TUBA1C TUBA3C TUBA3D TUBA3E TUBA4A TUBA4B TUBA8 TUBAL3 TUBB1 TUBB2A TUBB2B TUBB3 TUBB4A TUBB4B TUBB6 TUBB8 TUBB8B VAV1 VAV2 VAV3 VCL VEGFA VEGFB VEGFC VEGFD VPREB1 VPREB3 VPS45 VTI1B VWF WDR1 WEE1 YES1 YWHAZ ZFPM1 ZFPM2 (see all 621) (see less)
3	Platelet activation, signaling and aggregation	Reactome	A1BG A2M AAMP ABCC4 ABHD12 ABHD6 ACTN1 ACTN2 ACTN4 ADRA2A ADRA2B ADRA2C AHSG AKT1 ALB ALDOA ANXA5 APBB1IP APLP2 APOA1 APOH APOOL APP ARRB1 ARRB2 BCAR1 BRPF3 CALM1 CALM2 CALM3 CALU CAP1 CD109 CD36 CD63 CD9 CDC37L1 CDC42 CFD CFL1 CHID1 CLEC1B CLEC3B CLU COL1A1 COL1A2 CRK CSK CTSW CYB5R1 CYRIB DAGLA DAGLB DGKA DGKB DGKD DGKE DGKG DGKH DGKI DGKK DGKQ DGKZ ECM1 EGF ENDOD1 F13A1 F2 F2R F2RL2 F2RL3 F5 F8 FAM3C FCER1G FERMT3 FGA FGB FGG FLNA FN1 FYN GAS6 GNA11 GNA12 GNA13 GNA14 GNA15 GNAI1 GNAI2 GNAI3 GNAQ GNAT3 GNB1 GNB2 GNB3 GNB4 GNB5 GNG10 GNG11 GNG12 GNG13 GNG2 GNG3 GNG4 GNG5 GNG7 GNG8 GNGT1 GNGT2 GP1BA GP1BB GP5 GP6 GP9 GRB2 GTPBP2 HABP4 HGF HRG HSPA5 IGF1 IGF2 ISLR ITGA2B ITGB3 ITIH3 ITIH4 ITPR1 ITPR2 ITPR3 KNG1 LAMP2 LAT LCK LCP2 LEFTY2 LGALS3BP LHFPL2 LY6G6F LYN MAGED2 MANF MAPK1 MAPK14 MAPK3 MGLL MMRN1 MPIG6B MPL NHLRC2 OLA1 ORM1 ORM2 P2RY1 P2RY12 PCDH7 PCYOX1L PDGFA PDGFB PDPK1 PDPN PECAM1 PF4 PFN1 PHACTR2 PIK3CA PIK3CB PIK3CG PIK3R1 PIK3R2 PIK3R3 PIK3R5 PIK3R6 PLA2G4A PLCG2 PLEK PLG PPBP PPIA PRKCA PRKCB PRKCD PRKCE PRKCG PRKCH PRKCZ PROS1 PSAP PTK2 PTPN1 PTPN11 PTPN6 QSOX1 RAB27B RAC1 RAC2 RAF1 RAP1A RAP1B RAPGEF3 RAPGEF4 RARRES2 RASGRP1 RASGRP2 RHOA RHOB RHOG SCCPDH SCG3 SELENOP SELP SERPINA1 SERPINA3 SERPINA4 SERPINE1 SERPINF2 SERPING1 SHC1 SOD1 SOS1 SPARC SPP2 SRC SRGN STX4 STXBP2 STXBP3 SYK SYTL4 TAGLN2 TBXA2R TEX264 TF TGFB1 TGFB2 TGFB3 THBS1 THPO TIMP1 TIMP3 TLN1 TMSB4X TMX3 TOR4A TRPC3 TRPC6 TRPC7 TTN TUBA4A VAV1 VAV2 VAV3 VCL VEGFA VEGFB VEGFC VEGFD VTI1B VWF WDR1 YWHAZ (see all 262) (see less)
4	Platelet degranulation	Reactome	A1BG A2M ABCC4 ACTN1 ACTN2 ACTN4 AHSG ALB ALDOA ANXA5 APLP2 APOA1 APOH APOOL APP BRPF3 CALM1 CALM2 CALM3 CALU CAP1 CD109 CD36 CD63 CD9 CDC37L1 CFD CFL1 CHID1 CLEC3B CLU CTSW CYB5R1 CYRIB ECM1 EGF ENDOD1 F13A1 F5 F8 FAM3C FERMT3 FGA FGB FGG FLNA FN1 GAS6 GTPBP2 HABP4 HGF HRG HSPA5 IGF1 IGF2 ISLR ITGA2B ITGB3 ITIH3 ITIH4 KNG1 LAMP2 LEFTY2 LGALS3BP LHFPL2 LY6G6F MAGED2 MANF MMRN1 NHLRC2 OLA1 ORM1 ORM2 PCDH7 PCYOX1L PDGFA PDGFB PECAM1 PF4 PFN1 PHACTR2 PLEK PLG PPBP PPIA PROS1 PSAP QSOX1 RAB27B RARRES2 SCCPDH SCG3 SELENOP SELP SERPINA1 SERPINA3 SERPINA4 SERPINE1 SERPINF2 SERPING1 SOD1 SPARC SPP2 SRGN STXBP2 SYTL4 TAGLN2 TEX264 TF TGFB1 TGFB2 TGFB3 THBS1 TIMP1 TIMP3 TLN1 TMSB4X TMX3 TOR4A TTN TUBA4A VCL VEGFA VEGFB VEGFC VEGFD VTI1B VWF WDR1 (see all 129) (see less)
5	Disinhibition of SNARE formation	Reactome	PRKCA PRKCB PRKCG STX4 STXBP3

Gene overlap in member pathways for Response to elevated platelet cytosolic Ca2+ SuperPath

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

#	Symbol	Description	Category	# Related Pathways
1	A1BG	Alpha-1-B Glycoprotein	Protein Coding	4
2	LHFPL2	LHFPL Tetraspan Subfamily Member 2	Protein Coding	4
3	ABCC4	ATP Binding Cassette Subfamily C Member 4 (PEL Blood Group)	Protein Coding	4
4	FAM3C	FAM3 Metabolism Regulating Signaling Molecule C	Protein Coding	4
5	CAP1	Cyclase Associated Actin Cytoskeleton Regulatory Protein 1	Protein Coding	4
6	VTI1B	Vesicle Transport Through Interaction With T-SNAREs 1B	Protein Coding	4
7	CFL1	Cofilin 1	Protein Coding	4
8	MAGED2	MAGE Family Member D2	Protein Coding	4
9	CLU	Clusterin	Protein Coding	4
10	SERPINA3	Serpin Family A Member 3	Protein Coding	4
11	CD109	CD109 Molecule	Protein Coding	4
12	APOOL	Apolipoprotein O Like	Protein Coding	4
13	CTSW	Cathepsin W	Protein Coding	4
14	CFD	Complement Factor D	Protein Coding	4
15	ECM1	Extracellular Matrix Protein 1	Protein Coding	4
16	EGF	Epidermal Growth Factor	Protein Coding	4
17	AHSG	Alpha 2-HS Glycoprotein	Protein Coding	4
18	A2M	Alpha-2-Macroglobulin	Protein Coding	4
19	ALB	Albumin	Protein Coding	4
20	F5	Coagulation Factor V	Protein Coding	4
21	F8	Coagulation Factor VIII	Protein Coding	4
22	F13A1	Coagulation Factor XIII A Chain	Protein Coding	4
23	FGA	Fibrinogen Alpha Chain	Protein Coding	4
24	FGB	Fibrinogen Beta Chain	Protein Coding	4
25	ALDOA	Aldolase, Fructose-Bisphosphate A	Protein Coding	4
26	FGG	Fibrinogen Gamma Chain	Protein Coding	4
27	VEGFD	Vascular Endothelial Growth Factor D	Protein Coding	4
28	MMRN1	Multimerin 1	Protein Coding	4
29	HABP4	Hyaluronan Binding Protein 4	Protein Coding	4
30	ENDOD1	Endonuclease Domain Containing 1	Protein Coding	4
31	FLNA	Filamin A	Protein Coding	4
32	FN1	Fibronectin 1	Protein Coding	4
33	LY6G6F	Lymphocyte Antigen 6 Family Member G6F	Protein Coding	4
34	GAS6	Growth Arrest Specific 6	Protein Coding	4
35	BRPF3	Bromodomain And PHD Finger Containing 3	Protein Coding	4
36	SCG3	Secretogranin III	Protein Coding	4
37	OLA1	Obg Like ATPase 1	Protein Coding	4
38	ANXA5	Annexin A5	Protein Coding	4
39	HGF	Hepatocyte Growth Factor	Protein Coding	4
40	HRG	Histidine Rich Glycoprotein	Protein Coding	4
41	HSPA5	Heat Shock Protein Family A (Hsp70) Member 5	Protein Coding	4
42	APLP2	Amyloid Beta Precursor Like Protein 2	Protein Coding	4
43	APOA1	Apolipoprotein A1	Protein Coding	4
44	IGF1	Insulin Like Growth Factor 1	Protein Coding	4
45	IGF2	Insulin Like Growth Factor 2	Protein Coding	4
46	APOH	Apolipoprotein H	Protein Coding	4
47	APP	Amyloid Beta Precursor Protein	Protein Coding	4
48	ISLR	Immunoglobulin Superfamily Containing Leucine Rich Repeat	Protein Coding	4
49	ITGA2B	Integrin Subunit Alpha 2b	Protein Coding	4
50	ITGB3	Integrin Subunit Beta 3	Protein Coding	4
51	ITIH3	Inter-Alpha-Trypsin Inhibitor Heavy Chain 3	Protein Coding	4
52	ITIH4	Inter-Alpha-Trypsin Inhibitor Heavy Chain 4	Protein Coding	4
53	NHLRC2	NHL Repeat Containing 2	Protein Coding	4
54	KNG1	Kininogen 1	Protein Coding	4
55	LAMP2	Lysosomal Associated Membrane Protein 2	Protein Coding	4
56	LGALS3BP	Galectin 3 Binding Protein	Protein Coding	4
57	ORM1	Orosomucoid 1	Protein Coding	4
58	ORM2	Orosomucoid 2	Protein Coding	4
59	SERPINE1	Serpin Family E Member 1	Protein Coding	4
60	PCDH7	Protocadherin 7	Protein Coding	4
61	SCCPDH	Saccharopine Dehydrogenase (Putative)	Protein Coding	4
62	TEX264	Testis Expressed 264, ER-Phagy Receptor	Protein Coding	4
63	PDGFA	Platelet Derived Growth Factor Subunit A	Protein Coding	4
64	PDGFB	Platelet Derived Growth Factor Subunit B	Protein Coding	4
65	CYRIB	CYFIP Related Rac1 Interactor B	Protein Coding	4
66	CYB5R1	Cytochrome B5 Reductase 1	Protein Coding	4
67	PECAM1	Platelet And Endothelial Cell Adhesion Molecule 1	Protein Coding	4
68	PF4	Platelet Factor 4	Protein Coding	4
69	PFN1	Profilin 1	Protein Coding	4
70	SERPINA1	Serpin Family A Member 1	Protein Coding	4
71	SERPINA4	Serpin Family A Member 4	Protein Coding	4
72	PLG	Plasminogen	Protein Coding	4
73	PLEK	Pleckstrin	Protein Coding	4
74	SERPINF2	Serpin Family F Member 2	Protein Coding	4
75	TMX3	Thioredoxin Related Transmembrane Protein 3	Protein Coding	4
76	GTPBP2	GTP Binding Protein 2	Protein Coding	4
77	PPBP	Pro-Platelet Basic Protein	Protein Coding	4
78	PPIA	Peptidylprolyl Isomerase A	Protein Coding	4
79	TOR4A	Torsin Family 4 Member A	Protein Coding	4
80	SRGN	Serglycin	Protein Coding	4
81	CDC37L1	Cell Division Cycle 37 Like 1, HSP90 Cochaperone	Protein Coding	4
82	PRKCA	Protein Kinase C Alpha	Protein Coding	4
83	PRKCB	Protein Kinase C Beta	Protein Coding	4
84	PRKCG	Protein Kinase C Gamma	Protein Coding	4
85	PROS1	Protein S	Protein Coding	4
86	PSAP	Prosaposin	Protein Coding	4
87	QSOX1	Quiescin Sulfhydryl Oxidase 1	Protein Coding	4
88	RAB27B	RAB27B, Member RAS Oncogene Family	Protein Coding	4
89	RARRES2	Retinoic Acid Receptor Responder 2	Protein Coding	4
90	SELP	Selectin P	Protein Coding	4
91	SELENOP	Selenoprotein P	Protein Coding	4
92	CHID1	Chitinase Domain Containing 1	Protein Coding	4
93	SOD1	Superoxide Dismutase 1	Protein Coding	4
94	SPARC	Secreted Protein Acidic And Cysteine Rich	Protein Coding	4
95	SPP2	Secreted Phosphoprotein 2	Protein Coding	4
96	STX4	Syntaxin 4	Protein Coding	4
97	STXBP2	Syntaxin Binding Protein 2	Protein Coding	4
98	STXBP3	Syntaxin Binding Protein 3	Protein Coding	4
99	TF	Transferrin	Protein Coding	4
100	TGFB1	Transforming Growth Factor Beta 1	Protein Coding	4
101	TGFB2	Transforming Growth Factor Beta 2	Protein Coding	4
102	TGFB3	Transforming Growth Factor Beta 3	Protein Coding	4
103	LEFTY2	Left-Right Determination Factor 2	Protein Coding	4
104	THBS1	Thrombospondin 1	Protein Coding	4
105	TIMP1	TIMP Metallopeptidase Inhibitor 1	Protein Coding	4
106	TIMP3	TIMP Metallopeptidase Inhibitor 3	Protein Coding	4
107	TLN1	Talin 1	Protein Coding	4
108	SERPING1	Serpin Family G Member 1	Protein Coding	4
109	TMSB4X	Thymosin Beta 4 X-Linked	Protein Coding	4
110	CLEC3B	C-Type Lectin Domain Family 3 Member B	Protein Coding	4
111	TTN	Titin	Protein Coding	4
112	TUBA4A	Tubulin Alpha 4a	Protein Coding	4
113	VCL	Vinculin	Protein Coding	4
114	VEGFA	Vascular Endothelial Growth Factor A	Protein Coding	4
115	VEGFB	Vascular Endothelial Growth Factor B	Protein Coding	4
116	VEGFC	Vascular Endothelial Growth Factor C	Protein Coding	4
117	VWF	Von Willebrand Factor	Protein Coding	4
118	MANF	Mesencephalic Astrocyte Derived Neurotrophic Factor	Protein Coding	4
119	PCYOX1L	Prenylcysteine Oxidase 1 Like	Protein Coding	4
120	CALM1	Calmodulin 1	Protein Coding	4
121	CALM2	Calmodulin 2	Protein Coding	4
122	CALM3	Calmodulin 3	Protein Coding	4
123	ACTN4	Actinin Alpha 4	Protein Coding	4
124	CALU	Calumenin	Protein Coding	4
125	FERMT3	FERM Domain Containing Kindlin 3	Protein Coding	4
126	TAGLN2	Transgelin 2	Protein Coding	4
127	ACTN1	Actinin Alpha 1	Protein Coding	4
128	ACTN2	Actinin Alpha 2	Protein Coding	4
129	CD9	CD9 Molecule	Protein Coding	4
130	SYTL4	Synaptotagmin Like 4	Protein Coding	4
131	CD36	CD36 Molecule (CD36 Blood Group)	Protein Coding	4
132	CD63	CD63 Molecule	Protein Coding	4
133	PHACTR2	Phosphatase And Actin Regulator 2	Protein Coding	4
134	WDR1	WD Repeat Domain 1	Protein Coding	4
135	RASGRP1	RAS Guanyl Releasing Protein 1	Protein Coding	2
136	RASGRP2	RAS Guanyl Releasing Protein 2	Protein Coding	2
137	RAPGEF3	Rap Guanine Nucleotide Exchange Factor 3	Protein Coding	2
138	VAV3	Vav Guanine Nucleotide Exchange Factor 3	Protein Coding	2
139	PDPN	Podoplanin	Protein Coding	2
140	GNA13	G Protein Subunit Alpha 13	Protein Coding	2
141	GNB5	G Protein Subunit Beta 5	Protein Coding	2
142	RAPGEF4	Rap Guanine Nucleotide Exchange Factor 4	Protein Coding	2
143	MGLL	Monoglyceride Lipase	Protein Coding	2
144	COL1A1	Collagen Type I Alpha 1 Chain	Protein Coding	2
145	COL1A2	Collagen Type I Alpha 2 Chain	Protein Coding	2
146	DGKK	Diacylglycerol Kinase Kappa	Protein Coding	2
147	CRK	CRK Proto-Oncogene, Adaptor Protein	Protein Coding	2
148	AAMP	Angio Associated Migratory Cell Protein	Protein Coding	2
149	MAPK14	Mitogen-Activated Protein Kinase 14	Protein Coding	2
150	CSK	C-Terminal Src Kinase	Protein Coding	2
151	PIK3R6	Phosphoinositide-3-Kinase Regulatory Subunit 6	Protein Coding	2
152	ADRA2A	Adrenoceptor Alpha 2A	Protein Coding	2
153	ADRA2B	Adrenoceptor Alpha 2B	Protein Coding	2
154	ADRA2C	Adrenoceptor Alpha 2C	Protein Coding	2
155	DGKA	Diacylglycerol Kinase Alpha	Protein Coding	2
156	DGKB	Diacylglycerol Kinase Beta	Protein Coding	2
157	DGKG	Diacylglycerol Kinase Gamma	Protein Coding	2
158	DGKH	Diacylglycerol Kinase Eta	Protein Coding	2
159	DGKQ	Diacylglycerol Kinase Theta	Protein Coding	2
160	AKT1	AKT Serine/Threonine Kinase 1	Protein Coding	2
161	F2	Coagulation Factor II, Thrombin	Protein Coding	2
162	F2R	Coagulation Factor II Thrombin Receptor	Protein Coding	2
163	F2RL2	Coagulation Factor II Thrombin Receptor Like 2	Protein Coding	2
164	FCER1G	Fc Epsilon Receptor Ig	Protein Coding	2
165	DAGLB	Diacylglycerol Lipase Beta	Protein Coding	2
166	PIK3R5	Phosphoinositide-3-Kinase Regulatory Subunit 5	Protein Coding	2
167	FYN	FYN Proto-Oncogene, Src Family Tyrosine Kinase	Protein Coding	2
168	ABHD12	Abhydrolase Domain Containing 12, Lysophospholipase	Protein Coding	2
169	LAT	Linker For Activation Of T Cells	Protein Coding	2
170	GNA11	G Protein Subunit Alpha 11	Protein Coding	2
171	GNA12	G Protein Subunit Alpha 12	Protein Coding	2
172	GNA15	G Protein Subunit Alpha 15	Protein Coding	2
173	GNAI1	G Protein Subunit Alpha I1	Protein Coding	2
174	GNAI2	G Protein Subunit Alpha I2	Protein Coding	2
175	GNAI3	G Protein Subunit Alpha I3	Protein Coding	2
176	GNAQ	G Protein Subunit Alpha Q	Protein Coding	2
177	GNB1	G Protein Subunit Beta 1	Protein Coding	2
178	GNB2	G Protein Subunit Beta 2	Protein Coding	2
179	GNB3	G Protein Subunit Beta 3	Protein Coding	2
180	GNG3	G Protein Subunit Gamma 3	Protein Coding	2
181	GNG4	G Protein Subunit Gamma 4	Protein Coding	2
182	GNG5	G Protein Subunit Gamma 5	Protein Coding	2
183	GNG7	G Protein Subunit Gamma 7	Protein Coding	2
184	GNG10	G Protein Subunit Gamma 10	Protein Coding	2
185	GNG11	G Protein Subunit Gamma 11	Protein Coding	2
186	GNGT1	G Protein Subunit Gamma Transducin 1	Protein Coding	2
187	GNGT2	G Protein Subunit Gamma Transducin 2	Protein Coding	2
188	GP1BA	Glycoprotein Ib Platelet Subunit Alpha	Protein Coding	2
189	GP1BB	Glycoprotein Ib Platelet Subunit Beta	Protein Coding	2
190	GP5	Glycoprotein V Platelet	Protein Coding	2
191	GP9	Glycoprotein IX Platelet	Protein Coding	2
192	GRB2	Growth Factor Receptor Bound Protein 2	Protein Coding	2
193	GNAT3	G Protein Subunit Alpha Transducin 3	Protein Coding	2
194	ITPR1	Inositol 1,4,5-Trisphosphate Receptor Type 1	Protein Coding	2
195	ITPR2	Inositol 1,4,5-Trisphosphate Receptor Type 2	Protein Coding	2
196	ITPR3	Inositol 1,4,5-Trisphosphate Receptor Type 3	Protein Coding	2
197	RHOA	Ras Homolog Family Member A	Protein Coding	2
198	RHOB	Ras Homolog Family Member B	Protein Coding	2
199	RHOG	Ras Homolog Family Member G	Protein Coding	2
200	LCK	LCK Proto-Oncogene, Src Family Tyrosine Kinase	Protein Coding	2
201	LCP2	Lymphocyte Cytosolic Protein 2	Protein Coding	2
202	LYN	LYN Proto-Oncogene, Src Family Tyrosine Kinase	Protein Coding	2
203	ARRB1	Arrestin Beta 1	Protein Coding	2
204	ARRB2	Arrestin Beta 2	Protein Coding	2
205	MPL	MPL Proto-Oncogene, Thrombopoietin Receptor	Protein Coding	2
206	P2RY1	Purinergic Receptor P2Y1	Protein Coding	2
207	GP6	Glycoprotein VI Platelet	Protein Coding	2
208	CLEC1B	C-Type Lectin Domain Family 1 Member B	Protein Coding	2
209	PDPK1	3-Phosphoinositide Dependent Protein Kinase 1	Protein Coding	2
210	GNG13	G Protein Subunit Gamma 13	Protein Coding	2
211	PIK3CA	Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha	Protein Coding	2
212	PIK3CB	Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Beta	Protein Coding	2
213	PIK3CG	Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Gamma	Protein Coding	2
214	PIK3R1	Phosphoinositide-3-Kinase Regulatory Subunit 1	Protein Coding	2
215	PIK3R2	Phosphoinositide-3-Kinase Regulatory Subunit 2	Protein Coding	2
216	PLA2G4A	Phospholipase A2 Group IVA	Protein Coding	2
217	PLCG2	Phospholipase C Gamma 2	Protein Coding	2
218	GNG2	G Protein Subunit Gamma 2	Protein Coding	2
219	APBB1IP	Amyloid Beta Precursor Protein Binding Family B Member 1 Interacting Protein	Protein Coding	2
220	PRKCD	Protein Kinase C Delta	Protein Coding	2
221	PRKCE	Protein Kinase C Epsilon	Protein Coding	2
222	PRKCH	Protein Kinase C Eta	Protein Coding	2
223	PRKCZ	Protein Kinase C Zeta	Protein Coding	2
224	MAPK1	Mitogen-Activated Protein Kinase 1	Protein Coding	2
225	MAPK3	Mitogen-Activated Protein Kinase 3	Protein Coding	2
226	GNG12	G Protein Subunit Gamma 12	Protein Coding	2
227	TRPC7	Transient Receptor Potential Cation Channel Subfamily C Member 7	Protein Coding	2
228	ABHD6	Abhydrolase Domain Containing 6, Acylglycerol Lipase	Protein Coding	2
229	PTK2	Protein Tyrosine Kinase 2	Protein Coding	2
230	PTPN1	Protein Tyrosine Phosphatase Non-Receptor Type 1	Protein Coding	2
231	PTPN6	Protein Tyrosine Phosphatase Non-Receptor Type 6	Protein Coding	2
232	PTPN11	Protein Tyrosine Phosphatase Non-Receptor Type 11	Protein Coding	2
233	RAC1	Rac Family Small GTPase 1	Protein Coding	2
234	RAC2	Rac Family Small GTPase 2	Protein Coding	2
235	RAF1	Raf-1 Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	2
236	RAP1A	RAP1A, Member Of RAS Oncogene Family	Protein Coding	2
237	RAP1B	RAP1B, Member Of RAS Oncogene Family	Protein Coding	2
238	GNB4	G Protein Subunit Beta 4	Protein Coding	2
239	SHC1	SHC Adaptor Protein 1	Protein Coding	2
240	P2RY12	Purinergic Receptor P2Y12	Protein Coding	2
241	SOS1	SOS Ras/Rac Guanine Nucleotide Exchange Factor 1	Protein Coding	2
242	SRC	SRC Proto-Oncogene, Non-Receptor Tyrosine Kinase	Protein Coding	2
243	SYK	Spleen Associated Tyrosine Kinase	Protein Coding	2
244	TBXA2R	Thromboxane A2 Receptor	Protein Coding	2
245	THPO	Thrombopoietin	Protein Coding	2
246	TRPC3	Transient Receptor Potential Cation Channel Subfamily C Member 3	Protein Coding	2
247	TRPC6	Transient Receptor Potential Cation Channel Subfamily C Member 6	Protein Coding	2
248	VAV1	Vav Guanine Nucleotide Exchange Factor 1	Protein Coding	2
249	VAV2	Vav Guanine Nucleotide Exchange Factor 2	Protein Coding	2
250	DAGLA	Diacylglycerol Lipase Alpha	Protein Coding	2
251	YWHAZ	Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Zeta	Protein Coding	2
252	MPIG6B	Megakaryocyte And Platelet Inhibitory Receptor G6b	Protein Coding	2
253	PIK3R3	Phosphoinositide-3-Kinase Regulatory Subunit 3	Protein Coding	2
254	DGKZ	Diacylglycerol Kinase Zeta	Protein Coding	2
255	DGKE	Diacylglycerol Kinase Epsilon	Protein Coding	2
256	DGKD	Diacylglycerol Kinase Delta	Protein Coding	2
257	F2RL3	F2R Like Thrombin Or Trypsin Receptor 3	Protein Coding	2
258	DGKI	Diacylglycerol Kinase Iota	Protein Coding	2
259	GNG8	G Protein Subunit Gamma 8	Protein Coding	2
260	BCAR1	BCAR1 Scaffold Protein, Cas Family Member	Protein Coding	2
261	GNA14	G Protein Subunit Alpha 14	Protein Coding	2
262	CDC42	Cell Division Cycle 42	Protein Coding	2
263	SH2B3	SH2B Adaptor Protein 3	Protein Coding	1
264	KIF20A	Kinesin Family Member 20A	Protein Coding	1
265	CDK2	Cyclin Dependent Kinase 2	Protein Coding	1
266	CDK5	Cyclin Dependent Kinase 5	Protein Coding	1
267	KCNMB2	Potassium Calcium-Activated Channel Subfamily M Regulatory Beta Subunit 2	Protein Coding	1
268	IRAG1	Inositol 1,4,5-Triphosphate Receptor Associated 1	Protein Coding	1
269	HMG20B	High Mobility Group 20B	Protein Coding	1
270	TUBA1B	Tubulin Alpha 1b	Protein Coding	1
271	TUBB3	Tubulin Beta 3 Class III	Protein Coding	1
272	TUBB4A	Tubulin Beta 4A Class IVa	Protein Coding	1
273	TUBB4B	Tubulin Beta 4B Class IVb	Protein Coding	1
274	MERTK	MER Proto-Oncogene, Tyrosine Kinase	Protein Coding	1
275	CEACAM5	CEA Cell Adhesion Molecule 5	Protein Coding	1
276	PROCR	Protein C Receptor	Protein Coding	1
277	SH2B2	SH2B Adaptor Protein 2	Protein Coding	1
278	CENPE	Centromere Protein E	Protein Coding	1
279	KIF1C	Kinesin Family Member 1C	Protein Coding	1
280	CEACAM3	CEA Cell Adhesion Molecule 3	Protein Coding	1
281	PDE10A	Phosphodiesterase 10A	Protein Coding	1
282	CEACAM8	CEA Cell Adhesion Molecule 8	Protein Coding	1
283	EHD1	EH Domain Containing 1	Protein Coding	1
284	KIF2C	Kinesin Family Member 2C	Protein Coding	1
285	ADAMTS13	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 13	Protein Coding	1
286	KIF3A	Kinesin Family Member 3A	Protein Coding	1
287	SLC7A9	Solute Carrier Family 7 Member 9	Protein Coding	1
288	AKAP10	A-Kinase Anchoring Protein 10	Protein Coding	1
289	TUBA3E	Tubulin Alpha 3e	Protein Coding	1
290	VPS45	Vacuolar Protein Sorting 45 Homolog	Protein Coding	1
291	KIF12	Kinesin Family Member 12	Protein Coding	1
292	TUBA3D	Tubulin Alpha 3d	Protein Coding	1
293	JAML	Junction Adhesion Molecule Like	Protein Coding	1
294	KIF19	Kinesin Family Member 19	Protein Coding	1
295	H3C14	H3 Clustered Histone 14	Protein Coding	1
296	DOCK11	Dedicator Of Cytokinesis 11	Protein Coding	1
297	GATA5	GATA Binding Protein 5	Protein Coding	1
298	SIRPA	Signal Regulatory Protein Alpha	Protein Coding	1
299	KIF18B	Kinesin Family Member 18B	Protein Coding	1
300	KLC3	Kinesin Light Chain 3	Protein Coding	1
301	CXADR	CXADR Cell Adhesion Molecule	Protein Coding	1
302	ZFPM1	Zinc Finger Protein, FOG Family Member 1	Protein Coding	1
303	DOCK1	Dedicator Of Cytokinesis 1	Protein Coding	1
304	DOCK2	Dedicator Of Cytokinesis 2	Protein Coding	1
305	DOCK3	Dedicator Of Cytokinesis 3	Protein Coding	1
306	F3	Coagulation Factor III, Tissue Factor	Protein Coding	1
307	F7	Coagulation Factor VII	Protein Coding	1
308	F9	Coagulation Factor IX	Protein Coding	1
309	F10	Coagulation Factor X	Protein Coding	1
310	F11	Coagulation Factor XI	Protein Coding	1
311	F12	Coagulation Factor XII	Protein Coding	1
312	F13B	Coagulation Factor XIII B Chain	Protein Coding	1
313	JMJD1C	Jumonji Domain Containing 1C	Protein Coding	1
314	KIF6	Kinesin Family Member 6	Protein Coding	1
315	FGR	FGR Proto-Oncogene, Src Family Tyrosine Kinase	Protein Coding	1
316	KIFAP3	Kinesin Associated Protein 3	Protein Coding	1
317	P2RX2	Purinergic Receptor P2X 2	Protein Coding	1
318	KDM1A	Lysine Demethylase 1A	Protein Coding	1
319	KIF21B	Kinesin Family Member 21B	Protein Coding	1
320	KIF1B	Kinesin Family Member 1B	Protein Coding	1
321	RCOR1	REST Corepressor 1	Protein Coding	1
322	KIF13B	Kinesin Family Member 13B	Protein Coding	1
323	DOCK9	Dedicator Of Cytokinesis 9	Protein Coding	1
324	ZFPM2	Zinc Finger Protein, FOG Family Member 2	Protein Coding	1
325	SLC7A8	Solute Carrier Family 7 Member 8	Protein Coding	1
326	CBX5	Chromobox 5	Protein Coding	1
327	SLC16A8	Solute Carrier Family 16 Member 8	Protein Coding	1
328	SLC7A11	Solute Carrier Family 7 Member 11	Protein Coding	1
329	PPIL2	Peptidylprolyl Isomerase Like 2	Protein Coding	1
330	MAFF	MAF BZIP Transcription Factor F	Protein Coding	1
331	KIF4A	Kinesin Family Member 4A	Protein Coding	1
332	ABL1	ABL Proto-Oncogene 1, Non-Receptor Tyrosine Kinase	Protein Coding	1
333	SIN3A	SIN3 Transcription Regulator Family Member A	Protein Coding	1
334	SH2B1	SH2B Adaptor Protein 1	Protein Coding	1
335	TUBB8B	Tubulin Beta 8B	Protein Coding	1
336	KIF26A	Kinesin Family Member 26A	Protein Coding	1
337	GATA1	GATA Binding Protein 1	Protein Coding	1
338	GATA2	GATA Binding Protein 2~Name Same As:- HGNC:18350	Protein Coding	1
339	GATA3	GATA Binding Protein 3	Protein Coding	1
340	GATA4	GATA Binding Protein 4	Protein Coding	1
341	GATA6	GATA Binding Protein 6	Protein Coding	1
342	KCNMB3	Potassium Calcium-Activated Channel Subfamily M Regulatory Beta Subunit 3	Protein Coding	1
343	GLG1	Golgi Glycoprotein 1	Protein Coding	1
344	KCNMB4	Potassium Calcium-Activated Channel Subfamily M Regulatory Beta Subunit 4	Protein Coding	1
345	GNAS	GNAS Complex Locus	Protein Coding	1
346	GPC1	Glypican 1	Protein Coding	1
347	ANGPT1	Angiopoietin 1	Protein Coding	1
348	ANGPT2	Angiopoietin 2	Protein Coding	1
349	KIF4B	Kinesin Family Member 4B	Protein Coding	1
350	GRB7	Growth Factor Receptor Bound Protein 7	Protein Coding	1
351	GRB14	Growth Factor Receptor Bound Protein 14	Protein Coding	1
352	RACGAP1	Rac GTPase Activating Protein 1	Protein Coding	1
353	GUCY1A2	Guanylate Cyclase 1 Soluble Subunit Alpha 2	Protein Coding	1
354	VPREB3	V-Set Pre-B Cell Surrogate Light Chain 3	Protein Coding	1
355	GUCY1A1	Guanylate Cyclase 1 Soluble Subunit Alpha 1	Protein Coding	1
356	GUCY1B1	Guanylate Cyclase 1 Soluble Subunit Beta 1	Protein Coding	1
357	GYPA	Glycophorin A (MNS Blood Group)	Protein Coding	1
358	GYPB	Glycophorin B (MNS Blood Group)	Protein Coding	1
359	GYPC	Glycophorin C (Gerbich Blood Group)	Protein Coding	1
360	ANXA2	Annexin A2	Protein Coding	1
361	H3-3A	H3.3 Histone A	Protein Coding	1
362	H3-3B	H3.3 Histone B	Protein Coding	1
363	HBB	Hemoglobin Subunit Beta	Protein Coding	1
364	HBD	Hemoglobin Subunit Delta	Protein Coding	1
365	HBE1	Hemoglobin Subunit Epsilon 1	Protein Coding	1
366	HBG1	Hemoglobin Subunit Gamma 1	Protein Coding	1
367	HBG2	Hemoglobin Subunit Gamma 2	Protein Coding	1
368	SERPIND1	Serpin Family D Member 1	Protein Coding	1
369	HDAC1	Histone Deacetylase 1	Protein Coding	1
370	HDAC2	Histone Deacetylase 2	Protein Coding	1
371	EHD3	EH Domain Containing 3	Protein Coding	1
372	EHD2	EH Domain Containing 2	Protein Coding	1
373	HRAS	HRas Proto-Oncogene, GTPase	Protein Coding	1
374	H3C15	H3 Clustered Histone 15	Protein Coding	1
375	APOB	Apolipoprotein B	Protein Coding	1
376	IFNA1	Interferon Alpha 1	Protein Coding	1
377	IFNA2	Interferon Alpha 2	Protein Coding	1
378	IFNA4	Interferon Alpha 4	Protein Coding	1
379	IFNA5	Interferon Alpha 5	Protein Coding	1
380	IFNA6	Interferon Alpha 6	Protein Coding	1
381	IFNA7	Interferon Alpha 7	Protein Coding	1
382	IFNA8	Interferon Alpha 8	Protein Coding	1
383	IFNA10	Interferon Alpha 10	Protein Coding	1
384	IFNA13	Interferon Alpha 13	Protein Coding	1
385	IFNA14	Interferon Alpha 14	Protein Coding	1
386	IFNA16	Interferon Alpha 16	Protein Coding	1
387	IFNA17	Interferon Alpha 17	Protein Coding	1
388	IFNA21	Interferon Alpha 21	Protein Coding	1
389	IFNB1	Interferon Beta 1	Protein Coding	1
390	TUBB8	Tubulin Beta 8 Class VIII	Protein Coding	1
391	TUBB2B	Tubulin Beta 2B Class IIb	Protein Coding	1
392	JCHAIN	Joining Chain Of Multimeric IgA And IgM	Protein Coding	1
393	IGLL1	Immunoglobulin Lambda Like Polypeptide 1	Protein Coding	1
394	INPP5D	Inositol Polyphosphate-5-Phosphatase D	Protein Coding	1
395	ITGA6	Integrin Subunit Alpha 6	Protein Coding	1
396	IRF1	Interferon Regulatory Factor 1	Protein Coding	1
397	IRF2	Interferon Regulatory Factor 2	Protein Coding	1
398	ITGA1	Integrin Subunit Alpha 1	Protein Coding	1
399	ITGA2	Integrin Subunit Alpha 2	Protein Coding	1
400	ITGA3	Integrin Subunit Alpha 3	Protein Coding	1
401	ITGA4	Integrin Subunit Alpha 4	Protein Coding	1
402	ITGA5	Integrin Subunit Alpha 5	Protein Coding	1
403	ITGAL	Integrin Subunit Alpha L	Protein Coding	1
404	ITGAM	Integrin Subunit Alpha M	Protein Coding	1
405	ITGAV	Integrin Subunit Alpha V	Protein Coding	1
406	ITGAX	Integrin Subunit Alpha X	Protein Coding	1
407	ITGB1	Integrin Subunit Beta 1	Protein Coding	1
408	ITGB2	Integrin Subunit Beta 2	Protein Coding	1
409	ITPK1	Inositol-Tetrakisphosphate 1-Kinase	Protein Coding	1
410	JAK2	Janus Kinase 2	Protein Coding	1
411	KCNMA1	Potassium Calcium-Activated Channel Subfamily M Alpha 1	Protein Coding	1
412	KCNMB1	Potassium Calcium-Activated Channel Subfamily M Regulatory Beta Subunit 1	Protein Coding	1
413	KIF2A	Kinesin Family Member 2A	Protein Coding	1
414	KIF3C	Kinesin Family Member 3C	Protein Coding	1
415	KIF5A	Kinesin Family Member 5A	Protein Coding	1
416	KIF5B	Kinesin Family Member 5B	Protein Coding	1
417	KLKB1	Kallikrein B1	Protein Coding	1
418	KLC1	Kinesin Light Chain 1	Protein Coding	1
419	KIF11	Kinesin Family Member 11	Protein Coding	1
420	KIFC1	Kinesin Family Member C1	Protein Coding	1
421	KIF25	Kinesin Family Member 25	Protein Coding	1
422	KIF22	Kinesin Family Member 22	Protein Coding	1
423	KRAS	KRAS Proto-Oncogene, GTPase	Protein Coding	1
424	L1CAM	L1 Cell Adhesion Molecule	Protein Coding	1
425	EPCAM	Epithelial Cell Adhesion Molecule	Protein Coding	1
426	MAFG	MAF BZIP Transcription Factor G	Protein Coding	1
427	MAG	Myelin Associated Glycoprotein	Protein Coding	1
428	CD99	CD99 Molecule (Xg Blood Group)	Protein Coding	1
429	MIF	Macrophage Migration Inhibitory Factor	Protein Coding	1
430	MMP1	Matrix Metallopeptidase 1	Protein Coding	1
431	PSG8	Pregnancy Specific Beta-1-Glycoprotein 8	Protein Coding	1
432	MYB	MYB Proto-Oncogene, Transcription Factor	Protein Coding	1
433	SERPINC1	Serpin Family C Member 1	Protein Coding	1
434	CEACAM6	CEA Cell Adhesion Molecule 6	Protein Coding	1
435	NFE2	Nuclear Factor, Erythroid 2	Protein Coding	1
436	ATP1B1	ATPase Na+/K+ Transporting Subunit Beta 1	Protein Coding	1
437	ATP1B2	ATPase Na+/K+ Transporting Subunit Beta 2	Protein Coding	1
438	ATP1B3	ATPase Na+/K+ Transporting Subunit Beta 3	Protein Coding	1
439	NOS1	Nitric Oxide Synthase 1	Protein Coding	1
440	NOS2	Nitric Oxide Synthase 2	Protein Coding	1
441	NOS3	Nitric Oxide Synthase 3	Protein Coding	1
442	ATP2A1	ATPase Sarcoplasmic/Endoplasmic Reticulum Ca2+ Transporting 1	Protein Coding	1
443	ATP2A2	ATPase Sarcoplasmic/Endoplasmic Reticulum Ca2+ Transporting 2	Protein Coding	1
444	ATP2A3	ATPase Sarcoplasmic/Endoplasmic Reticulum Ca2+ Transporting 3	Protein Coding	1
445	NRAS	NRAS Proto-Oncogene, GTPase	Protein Coding	1
446	ATP2B1	ATPase Plasma Membrane Ca2+ Transporting 1	Protein Coding	1
447	ATP2B2	ATPase Plasma Membrane Ca2+ Transporting 2	Protein Coding	1
448	ATP2B3	ATPase Plasma Membrane Ca2+ Transporting 3	Protein Coding	1
449	ATP2B4	ATPase Plasma Membrane Ca2+ Transporting 4	Protein Coding	1
450	OLR1	Oxidized Low Density Lipoprotein Receptor 1	Protein Coding	1
451	P2RX1	Purinergic Receptor P2X 1	Protein Coding	1
452	P2RX3	Purinergic Receptor P2X 3	Protein Coding	1
453	P2RX4	Purinergic Receptor P2X 4	Protein Coding	1
454	P2RX5	Purinergic Receptor P2X 5	Protein Coding	1
455	P2RX7	Purinergic Receptor P2X 7	Protein Coding	1
456	PAFAH2	Platelet Activating Factor Acetylhydrolase 2	Protein Coding	1
457	SERPINB2	Serpin Family B Member 2	Protein Coding	1
458	AK3	Adenylate Kinase 3	Protein Coding	1
459	F11R	F11 Receptor	Protein Coding	1
460	PDE11A	Phosphodiesterase 11A	Protein Coding	1
461	SERPINA5	Serpin Family A Member 5	Protein Coding	1
462	PHF21A	PHD Finger Protein 21A	Protein Coding	1
463	PDE1A	Phosphodiesterase 1A	Protein Coding	1
464	ANGPT4	Angiopoietin 4	Protein Coding	1
465	PDE2A	Phosphodiesterase 2A	Protein Coding	1
466	PDE9A	Phosphodiesterase 9A	Protein Coding	1
467	PDE1B	Phosphodiesterase 1B	Protein Coding	1
468	CD244	CD244 Molecule	Protein Coding	1
469	TUBA8	Tubulin Alpha 8	Protein Coding	1
470	PF4V1	Platelet Factor 4 Variant 1	Protein Coding	1
471	SERPINB6	Serpin Family B Member 6	Protein Coding	1
472	SERPINE2	Serpin Family E Member 2	Protein Coding	1
473	SERPINB8	Serpin Family B Member 8	Protein Coding	1
474	PLAT	Plasminogen Activator, Tissue Type	Protein Coding	1
475	PLAU	Plasminogen Activator, Urokinase	Protein Coding	1
476	PLAUR	Plasminogen Activator, Urokinase Receptor	Protein Coding	1
477	PLCG1	Phospholipase C Gamma 1	Protein Coding	1
478	TREM1	Triggering Receptor Expressed On Myeloid Cells 1	Protein Coding	1
479	KIF1A	Kinesin Family Member 1A	Protein Coding	1
480	KIF26B	Kinesin Family Member 26B	Protein Coding	1
481	PPP2CA	Protein Phosphatase 2 Catalytic Subunit Alpha	Protein Coding	1
482	PPP2CB	Protein Phosphatase 2 Catalytic Subunit Beta	Protein Coding	1
483	PPP2R1A	Protein Phosphatase 2 Scaffold Subunit Aalpha	Protein Coding	1
484	PPP2R1B	Protein Phosphatase 2 Scaffold Subunit Abeta	Protein Coding	1
485	PPP2R5A	Protein Phosphatase 2 Regulatory Subunit B''Alpha	Protein Coding	1
486	PPP2R5B	Protein Phosphatase 2 Regulatory Subunit B''Beta	Protein Coding	1
487	PPP2R5C	Protein Phosphatase 2 Regulatory Subunit B''Gamma	Protein Coding	1
488	PPP2R5D	Protein Phosphatase 2 Regulatory Subunit B''Delta	Protein Coding	1
489	PPP2R5E	Protein Phosphatase 2 Regulatory Subunit B''Epsilon	Protein Coding	1
490	SIRPG	Signal Regulatory Protein Gamma	Protein Coding	1
491	PRCP	Prolylcarboxypeptidase	Protein Coding	1
492	KIF27	Kinesin Family Member 27	Protein Coding	1
493	CARMIL1	Capping Protein Regulator And Myosin 1 Linker 1	Protein Coding	1
494	KIF21A	Kinesin Family Member 21A	Protein Coding	1
495	KIF16B	Kinesin Family Member 16B	Protein Coding	1
496	DOCK10	Dedicator Of Cytokinesis 10	Protein Coding	1
497	PRKACA	Protein Kinase CAMP-Activated Catalytic Subunit Alpha	Protein Coding	1
498	MFN1	Mitofusin 1	Protein Coding	1
499	PRKACB	Protein Kinase CAMP-Activated Catalytic Subunit Beta	Protein Coding	1
500	PRKACG	Protein Kinase CAMP-Activated Catalytic Subunit Gamma	Protein Coding	1
501	PRKAR1A	Protein Kinase CAMP-Dependent Type I Regulatory Subunit Alpha	Protein Coding	1
502	PRKAR1B	Protein Kinase CAMP-Dependent Type I Regulatory Subunit Beta	Protein Coding	1
503	PRKAR2A	Protein Kinase CAMP-Dependent Type II Regulatory Subunit Alpha	Protein Coding	1
504	PRKAR2B	Protein Kinase CAMP-Dependent Type II Regulatory Subunit Beta	Protein Coding	1
505	PRKG1	Protein Kinase CGMP-Dependent 1	Protein Coding	1
506	PRKG2	Protein Kinase CGMP-Dependent 2	Protein Coding	1
507	PROC	Protein C, Inactivator Of Coagulation Factors Va And VIIIa	Protein Coding	1
508	SLC7A10	Solute Carrier Family 7 Member 10	Protein Coding	1
509	PRTN3	Proteinase 3	Protein Coding	1
510	PSG1	Pregnancy Specific Beta-1-Glycoprotein 1	Protein Coding	1
511	PSG2	Pregnancy Specific Beta-1-Glycoprotein 2	Protein Coding	1
512	PSG3	Pregnancy Specific Beta-1-Glycoprotein 3	Protein Coding	1
513	PSG4	Pregnancy Specific Beta-1-Glycoprotein 4	Protein Coding	1
514	PSG5	Pregnancy Specific Beta-1-Glycoprotein 5	Protein Coding	1
515	PSG6	Pregnancy Specific Beta-1-Glycoprotein 6	Protein Coding	1
516	PSG7	Pregnancy Specific Beta-1-Glycoprotein 7	Protein Coding	1
517	PSG9	Pregnancy Specific Beta-1-Glycoprotein 9	Protein Coding	1
518	PSG11	Pregnancy Specific Beta-1-Glycoprotein 11	Protein Coding	1
519	KIF15	Kinesin Family Member 15	Protein Coding	1
520	CD177	CD177 Molecule	Protein Coding	1
521	PTGIR	Prostaglandin I2 Receptor	Protein Coding	1
522	DOCK6	Dedicator Of Cytokinesis 6	Protein Coding	1
523	JAM2	Junctional Adhesion Molecule 2	Protein Coding	1
524	RAB5A	RAB5A, Member RAS Oncogene Family	Protein Coding	1
525	RAD51C	RAD51 Paralog C	Protein Coding	1
526	RAD51B	RAD51 Paralog B	Protein Coding	1
527	ACTB	Actin Beta	Protein Coding	1
528	S100A10	S100 Calcium Binding Protein A10	Protein Coding	1
529	CEACAM1	CEA Cell Adhesion Molecule 1	Protein Coding	1
530	SDC1	Syndecan 1	Protein Coding	1
531	SDC2	Syndecan 2	Protein Coding	1
532	SDC4	Syndecan 4	Protein Coding	1
533	SELE	Selectin E	Protein Coding	1
534	SELL	Selectin L	Protein Coding	1
535	SELPLG	Selectin P Ligand	Protein Coding	1
536	RBSN	Rabenosyn, RAB Effector	Protein Coding	1
537	KIF9	Kinesin Family Member 9	Protein Coding	1
538	MICAL1	Microtubule Associated Monooxygenase, Calponin And LIM Domain Containing 1	Protein Coding	1
539	KLC2	Kinesin Light Chain 2	Protein Coding	1
540	SLC3A2	Solute Carrier Family 3 Member 2	Protein Coding	1
541	H3C13	H3 Clustered Histone 13	Protein Coding	1
542	SLC8A2	Solute Carrier Family 8 Member A2	Protein Coding	1
543	SLC8A1	Solute Carrier Family 8 Member A1	Protein Coding	1
544	SLC8A3	Solute Carrier Family 8 Member A3	Protein Coding	1
545	SLC16A1	Solute Carrier Family 16 Member 1	Protein Coding	1
546	SPN	Sialophorin	Protein Coding	1
547	SRI	Sorcin	Protein Coding	1
548	STIM1	Stromal Interaction Molecule 1	Protein Coding	1
549	BSG	Basigin (Ok Blood Group)	Protein Coding	1
550	TEK	TEK Receptor Tyrosine Kinase	Protein Coding	1
551	TFPI	Tissue Factor Pathway Inhibitor	Protein Coding	1
552	THBD	Thrombomodulin	Protein Coding	1
553	C1QBP	Complement C1q Binding Protein	Protein Coding	1
554	TSPAN7	Tetraspanin 7	Protein Coding	1
555	TP53	Tumor Protein P53	Protein Coding	1
556	TUBA3C	Tubulin Alpha 3c	Protein Coding	1
557	TUBB2A	Tubulin Beta 2A Class IIa	Protein Coding	1
558	VPREB1	V-Set Pre-B Cell Surrogate Light Chain 1	Protein Coding	1
559	WEE1	WEE1 G2 Checkpoint Kinase	Protein Coding	1
560	YES1	YES Proto-Oncogene 1, Src Family Tyrosine Kinase	Protein Coding	1
561	LRP8	LDL Receptor Related Protein 8	Protein Coding	1
562	TUBA1A	Tubulin Alpha 1a	Protein Coding	1
563	MAFK	MAF BZIP Transcription Factor K	Protein Coding	1
564	TUBAL3	Tubulin Alpha Like 3	Protein Coding	1
565	DOCK5	Dedicator Of Cytokinesis 5	Protein Coding	1
566	TUBA4B	Tubulin Alpha 4b	Protein Coding	1
567	ORAI2	ORAI Calcium Release-Activated Calcium Modulator 2	Protein Coding	1
568	TUBB1	Tubulin Beta 1 Class VI	Protein Coding	1
569	SLC7A5	Solute Carrier Family 7 Member 5	Protein Coding	1
570	AKAP1	A-Kinase Anchoring Protein 1	Protein Coding	1
571	DOCK8	Dedicator Of Cytokinesis 8	Protein Coding	1
572	CABLES2	Cdk5 And Abl Enzyme Substrate 2	Protein Coding	1
573	KIF18A	Kinesin Family Member 18A	Protein Coding	1
574	CAPZA1	Capping Actin Protein Of Muscle Z-Line Subunit Alpha 1	Protein Coding	1
575	CAPZA2	Capping Actin Protein Of Muscle Z-Line Subunit Alpha 2	Protein Coding	1
576	CAPZB	Capping Actin Protein Of Muscle Z-Line Subunit Beta	Protein Coding	1
577	H3C1	H3 Clustered Histone 1	Protein Coding	1
578	H3C4	H3 Clustered Histone 4	Protein Coding	1
579	H3C3	H3 Clustered Histone 3	Protein Coding	1
580	H3C6	H3 Clustered Histone 6	Protein Coding	1
581	H3C11	H3 Clustered Histone 11	Protein Coding	1
582	H3C8	H3 Clustered Histone 8	Protein Coding	1
583	H3C12	H3 Clustered Histone 12	Protein Coding	1
584	H3C10	H3 Clustered Histone 10	Protein Coding	1
585	H3C2	H3 Clustered Histone 2	Protein Coding	1
586	CD99L2	CD99 Molecule Like 2	Protein Coding	1
587	JAM3	Junctional Adhesion Molecule 3	Protein Coding	1
588	FCAMR	Fc Alpha And Mu Receptor	Protein Coding	1
589	TUBB6	Tubulin Beta 6 Class V	Protein Coding	1
590	KIF2B	Kinesin Family Member 2B	Protein Coding	1
591	TUBA1C	Tubulin Alpha 1c	Protein Coding	1
592	ORAI1	ORAI Calcium Release-Activated Calcium Modulator 1	Protein Coding	1
593	ITGA10	Integrin Subunit Alpha 10	Protein Coding	1
594	DOCK7	Dedicator Of Cytokinesis 7	Protein Coding	1
595	CAV1	Caveolin 1	Protein Coding	1
596	PDE5A	Phosphodiesterase 5A	Protein Coding	1
597	TNFRSF10D	TNF Receptor Superfamily Member 10d	Protein Coding	1
598	CD84	CD84 Molecule	Protein Coding	1
599	H3C7	H3 Clustered Histone 7	Protein Coding	1
600	KLC4	Kinesin Light Chain 4	Protein Coding	1
601	DOK2	Docking Protein 2	Protein Coding	1
602	SLC7A7	Solute Carrier Family 7 Member 7	Protein Coding	1
603	SLC7A6	Solute Carrier Family 7 Member 6	Protein Coding	1
604	ESAM	Endothelial Cell Adhesion Molecule	Protein Coding	1
605	KIFC2	Kinesin Family Member C2	Protein Coding	1
606	SLC16A3	Solute Carrier Family 16 Member 3	Protein Coding	1
607	P2RX6	Purinergic Receptor P2X 6	Protein Coding	1
608	CD2	CD2 Molecule	Protein Coding	1
609	CABLES1	Cdk5 And Abl Enzyme Substrate 1	Protein Coding	1
610	KIF3B	Kinesin Family Member 3B	Protein Coding	1
611	PICK1	Protein Interacting With PRKCA 1	Protein Coding	1
612	KIF23	Kinesin Family Member 23	Protein Coding	1
613	KIF20B	Kinesin Family Member 20B	Protein Coding	1
614	CD44	CD44 Molecule (IN Blood Group)	Protein Coding	1
615	CD47	CD47 Molecule	Protein Coding	1
616	CD48	CD48 Molecule	Protein Coding	1
617	CD58	CD58 Molecule	Protein Coding	1
618	SDC3	Syndecan 3	Protein Coding	1
619	CD74	CD74 Molecule	Protein Coding	1
620	DOCK4	Dedicator Of Cytokinesis 4	Protein Coding	1
621	MFN2	Mitofusin 2	Protein Coding	1

Disorders associated with Response to elevated platelet cytosolic Ca2+ SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Thrombocytopenia	Enrichment	ACTN1, ADAMTS13, F10, F11, F8, FGG, GATA1, GP1BA, GP1BB, GP9, ITGA2B, ITGB3, MPL, P2RY12, PROS1, PTPN11, SRC, THBD, THPO, TUBB1, VWF	16.00
2	Fetomaternal alloimmune thrombocytopenia 1	Enrichment	CD109, GP1BA, GP1BB, ITGA2, ITGA2B, ITGB3	8.05
3	Autosomal dominant macrothrombocytopenia	Enrichment	ACTN1, GP1BA, GP1BB, ITGA2B, ITGB3, TUBA8, TUBB1	7.36
4	Dysfibrinogenemia, congenital	Enrichment	FGA, FGB, FGG	6.08
5	Familial dysfibrinogenemia	Enrichment	FGA, FGB, FGG	6.08
6	Familial hypofibrinogenemia	Enrichment	FGA, FGB, FGG	6.08
7	Afibrinogenemia, congenital	Enrichment	FGA, FGB, FGG	5.48
8	Noonan syndrome 3	Enrichment	HRAS, KRAS, PTPN11, RAF1, SOS1	5.41
9	Essential thrombocythemia	Enrichment	JAK2, MPL, SH2B3, THPO, TP53	5.41
10	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	Enrichment	GNA11, PIK3CA, PIK3R1	5.15
11	Anastomosing haemangioma	Enrichment	GNA11, GNA14, GNAQ	5.15
12	Ehlers-danlos syndrome, arthrochalasia type, 1	Enrichment	ALB, COL1A1, COL1A2	4.55
13	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	Enrichment	CDC42, PTPN11, YWHAZ	4.55
14	Noonan syndrome and noonan-related syndrome	Enrichment	HRAS, KRAS, NRAS, PTPN11, RAF1, SOS1	4.50
15	Catecholaminergic polymorphic ventricular tachycardia	Enrichment	CALM1, CALM2, CALM3	4.34
16	Congenital fibrosis of the extraocular muscles	Enrichment	KIF21A, TUBA1A, TUBB2B, TUBB3	4.22
17	Breast adenocarcinoma	Enrichment	AKT1, KRAS, PIK3CA, TP53	4.22
18	Capillary malformations, congenital	Enrichment	GNA11, GNAQ, PIK3CA	4.16
19	Bernard-soulier syndrome	Enrichment	GP1BA, GP1BB, GP9	4.16
20	Lung non-small cell carcinoma	Enrichment	HRAS, IRF1, KRAS, NRAS, PIK3CA	4.14
21	Loeys-dietz syndrome 4	Enrichment	TGFB2, TGFB3	4.05
22	Angioedema, hereditary, 1	Enrichment	F12, PLG, SERPING1	4.02
23	Tubulinopathy-associated dysgyria	Enrichment	TUBA1A, TUBB2B, TUBB3	4.02
24	Delta beta-thalassemia	Enrichment	HBB, HBD, HBG1	4.02
25	Nevus, epidermal	Enrichment	HRAS, KRAS, NRAS, PIK3CA	3.87
26	Thrombophilia due to thrombin defect	Enrichment	F13A1, F13B, F2, FGA	3.87
27	Myelofibrosis	Enrichment	JAK2, MPL, SH2B3, SRC	3.87
28	Hemihyperplasia, isolated	Enrichment	IGF2, PIK3CA, RHOA	3.86
29	Long qt syndrome 1	Enrichment	CALM1, CALM2, CALM3, ITPR3, PTPN11	3.61
30	Bleeding disorder, platelet-type, 16	Enrichment	ITGA2B, ITGB3	3.57
31	Periventricular nodular heterotopia 1	Enrichment	FLNA, VWF	3.57
32	Cerebral palsy	Enrichment	F2, F8, GNB1, MFN2, PROC, TTN, TUBA1A, TUBB4A	3.49
33	Myocardial infarction	Enrichment	F13A1, F7, GUCY1A1, ITGB3, LRP8, OLR1	3.45
34	Spinocerebellar ataxia 14	Enrichment	PRKCG	3.43
35	Deafness, autosomal recessive 123	Enrichment	STX4	3.43
36	Schimmelpenning-feuerstein-mims syndrome	Enrichment	HRAS, KRAS, NRAS	3.43
37	Chronic myelogenous leukemia, bcr-abl1 positive	Enrichment	ABL1, KRAS, NRAS	3.43
38	Tubulinopathy	Enrichment	TUBA1A, TUBB2A, TUBB2B	3.43
39	Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome	Enrichment	HBB, HBG1, HBG2	3.43
40	Dermatofibrosarcoma protuberans	Enrichment	COL1A1, PDGFB	3.43
41	Ehlers-danlos syndrome, arthrochalasia type, 2	Enrichment	COL1A1, COL1A2	3.43
42	Congenital amegakaryocytic thrombocytopenia	Enrichment	MPL, THPO	3.43
43	Ehlers-danlos/osteogenesis imperfecta syndrome	Enrichment	COL1A1, COL1A2	3.43
44	Phakomatosis cesioflammea	Enrichment	GNA11, GNAQ	3.43
45	Noonan syndrome 1	Enrichment	HRAS, KRAS, NRAS, PTPN11, RAF1, SOS1	3.33
46	Malaria	Enrichment	CD36, GYPA, GYPB, GYPC, HBB, NOS2	3.33
47	Stroke, ischemic	Enrichment	F2, F5, NOS3, PRKCH	3.14
48	Amyloidosis, hereditary systemic 2	Enrichment	APOA1, FGA	3.06
49	Arrhythmogenic right ventricular dysplasia, familial, 1	Enrichment	TGFB3, TTN	3.06
50	Arrhythmogenic right ventricular dysplasia 1	Enrichment	TGFB3, TTN	3.06
51	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome	Enrichment	HBB, HBG1, HBG2	3.05
52	Rasopathy	Enrichment	HRAS, KRAS, NRAS, PTPN11, RAF1, SOS1	3.03
53	Dyskeratosis congenita, autosomal dominant 6	Enrichment	MPL, THPO	2.96
54	High bone mass osteogenesis imperfecta	Enrichment	COL1A1, COL1A2	2.96
55	Cerebral sinovenous thrombosis	Enrichment	F2, F5	2.96
56	Meningioma	Enrichment	AKT1, PDGFB, PIK3CA	2.86
57	Hereditary ataxia	Enrichment	PRKCG	2.83
58	Lip and oral cavity carcinoma	Enrichment	ABL1, HRAS, PIK3CA, TP53	2.79
59	Osteogenesis imperfecta, type iv	Enrichment	COL1A1, COL1A2, SPARC	2.75
60	Glanzmann thrombasthenia 1	Enrichment	ITGA2B, ITGB3	2.74
61	Leukocyte adhesion deficiency, type i	Enrichment	FERMT3, ITGB2	2.68
62	Anemia, congenital dyserythropoietic, type iiia	Enrichment	KIF23, RACGAP1	2.68
63	Stormorken syndrome	Enrichment	ORAI1, STIM1	2.68
64	Pigmented nodular adrenocortical disease, primary, 1	Enrichment	GNAS, PRKAR1A	2.68
65	Leukocyte adhesion deficiency, type iii	Enrichment	FERMT3, ITGB2	2.68
66	Ras-associated autoimmune leukoproliferative disorder	Enrichment	KRAS, NRAS	2.68
67	Hemophilia b	Enrichment	F8, F9	2.68
68	Acute basophilic leukemia	Enrichment	GATA1, MYB	2.68
69	Hereditary angioedema	Enrichment	F12, PLG	2.68
70	Hemoglobin lepore-beta-thalassemia syndrome	Enrichment	HBB, HBD	2.68
71	Bryant-li-bhoj neurodevelopmental syndrome 2	Enrichment	H3-3A, H3-3B	2.68
72	Isolated primary pigmented nodular adrenocortical disease	Enrichment	PDE11A, PRKAR1A	2.68
73	Angioedema	Enrichment	F12, SERPING1	2.68
74	Sickle cell s-lepore disease	Enrichment	HBB, HBD	2.68
75	Factor xiii deficiency	Enrichment	F13A1, F13B	2.68
76	Megalencephaly-capillary malformation-polymicrogyria syndrome	Enrichment	PIK3CA, PIK3R2	2.66
77	Noonan syndrome with multiple lentigines	Enrichment	PTPN11, RAF1	2.66
78	Osteogenesis imperfecta with normal sclerae, dominant form	Enrichment	COL1A1, COL1A2	2.66
79	Osteoporosis	Enrichment	COL1A1, COL1A2, SRC	2.65
80	Multisystem inflammatory syndrome in children	Enrichment	CD84, IFNA21, IFNA4, IFNA6, IFNB1	2.57
81	Leukemia, chronic myeloid	Enrichment	ABL1, KRAS, NRAS	2.54
82	Gallbladder cancer	Enrichment	KRAS, PIK3CA, TP53	2.54
83	Cystic fibrosis	Enrichment	CEACAM3, CEACAM6, MIF, PLG, SERPINA1, TGFB1	2.53
84	Loeys-dietz syndrome	Enrichment	TGFB2, TGFB3	2.51
85	Left ventricular noncompaction	Enrichment	ACTN2, LAMP2, TTN	2.36
86	Melanocytic nevus syndrome, congenital	Enrichment	HRAS, NRAS, RAF1	2.35
87	Glioma susceptibility 1	Enrichment	H3-3A, H3C1, TP53	2.35
88	Fetal hemoglobin quantitative trait locus 1	Enrichment	HBB, HBG1, HBG2	2.35
89	Ehlers-danlos syndrome, classic type, 1	Enrichment	COL1A1, COL1A2	2.28
90	Klippel-trenaunay-weber syndrome	Enrichment	GNAQ, PIK3CA	2.28
91	Melanoma, uveal	Enrichment	GNA11, GNAQ	2.28
92	Osteogenesis imperfecta, type i	Enrichment	COL1A1, COL1A2	2.28
93	Patent ductus arteriosus	Enrichment	FLNA, PTPN11	2.28
94	Classic ehlers-danlos syndrome	Enrichment	COL1A1, COL1A2	2.28
95	Ehlers-danlos syndrome	Enrichment	COL1A1, COL1A2, TGFB2	2.26
96	Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant	Enrichment	TGFB3, TTN	2.25
97	Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant	Enrichment	TGFB3, TTN	2.25
98	Thrombocythemia 1	Enrichment	SH2B3, THPO	2.22
99	Factor x deficiency	Enrichment	F10, F11	2.22
100	Large congenital melanocytic nevus	Enrichment	HRAS, NRAS	2.22
101	Cushing syndrome due to bilateral macronodular adrenocortical disease	Enrichment	GNAS, KDM1A	2.22
102	Congenital factor x deficiency	Enrichment	F10, F11	2.22
103	Arteriovenous malformation	Enrichment	HRAS, PIK3CA, TEK	2.19
104	Adult hepatocellular carcinoma	Enrichment	EGF, PIK3CA, TP53	2.19
105	Breast cancer	Enrichment	AKT1, EPCAM, GNG3, KLC1, KRAS, PIK3CA, RAD51C, SHC1, TP53	2.15
106	Dilated cardiomyopathy	Enrichment	ACTN2, LAMP2, TTN, VCL	2.15
107	Osteogenesis imperfecta, type ii	Enrichment	COL1A1, COL1A2	2.14
108	Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant	Enrichment	TGFB3, TTN	2.12
109	Hypertrophic cardiomyopathy	Enrichment	ACTN2, LAMP2, TTN	2.10
110	Patent foramen ovale	Enrichment	FLNA, GATA4, GATA6, PTPN11	2.10
111	Familial thoracic aortic aneurysm and aortic dissection	Enrichment	FLNA, TGFB2, TGFB3	2.08
112	Myopathy, x-linked, with excessive autophagy	Enrichment	HRAS, PIK3CA, TEK	2.05
113	Complement component 4, partial deficiency of	Enrichment	SERPING1	2.02
114	Periodic fever, immunodeficiency, and thrombocytopenia syndrome	Enrichment	WDR1	2.02
115	High molecular weight kininogen deficiency	Enrichment	KNG1	2.02
116	Von willebrand disease, type 1	Enrichment	VWF	2.02
117	Metachromatic leukodystrophy due to saposin b deficiency	Enrichment	PSAP	2.02
118	Thrombophilia, x-linked, due to factor viii defect	Enrichment	F8	2.02
119	Focal segmental glomerulosclerosis 1	Enrichment	ACTN4	2.02
120	Alpha-2-plasmin inhibitor deficiency	Enrichment	SERPINF2	2.02
121	Otopalatodigital syndrome, type i	Enrichment	FLNA	2.02
122	Intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linked	Enrichment	FLNA	2.02
123	Hypomagnesemia 4, renal	Enrichment	EGF	2.02
124	Coronary heart disease 7	Enrichment	CD36	2.02
125	Deafness, autosomal recessive 39	Enrichment	HGF	2.02
126	Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction	Enrichment	ACTN2	2.02
127	Complement factor d deficiency	Enrichment	CFD	2.02
128	Basal ganglia calcification, idiopathic, 5	Enrichment	PDGFB	2.02
129	Thrombophilia due to protein s deficiency, autosomal dominant	Enrichment	PROS1	2.02
130	Von willebrand disease, type 2	Enrichment	VWF	2.02
131	Factor v deficiency	Enrichment	F5	2.02
132	Lipoid proteinosis of urbach and wiethe	Enrichment	ECM1	2.02
133	Amyotrophic lateral sclerosis 18	Enrichment	PFN1	2.02
134	Thrombophilia due to protein s deficiency, autosomal recessive	Enrichment	PROS1	2.02
135	Hyperthyroxinemia, familial dysalbuminemic	Enrichment	ALB	2.02
136	Thrombophilia due to activated protein c resistance	Enrichment	F5	2.02
137	Atransferrinemia	Enrichment	TF	2.02
138	Alopecia-intellectual disability syndrome 1	Enrichment	AHSG	2.02
139	Angioedema, hereditary, 4	Enrichment	PLG	2.02
140	Terminal osseous dysplasia	Enrichment	FLNA	2.02
141	Congenital myopathy 8	Enrichment	ACTN2	2.02
142	Von willebrand disease, type 3	Enrichment	VWF	2.02
143	Fetomaternal alloimmune thrombocytopenia 2	Enrichment	ITGA2B	2.02
144	Hereditary lymphedema id	Enrichment	VEGFC	2.02
145	Fg syndrome 2	Enrichment	FLNA	2.02
146	Danon disease	Enrichment	LAMP2	2.02
147	Bartter syndrome, type 5, antenatal, transient	Enrichment	MAGED2	2.02
148	Angioedema, hereditary, 6	Enrichment	KNG1	2.02
149	Parkinson disease 24, autosomal dominant	Enrichment	PSAP	2.02
150	Lymphatic malformation 4	Enrichment	VEGFC	2.02
151	Plasminogen activator inhibitor-1 deficiency	Enrichment	SERPINE1	2.02
152	Microvascular complications of diabetes 1	Enrichment	VEGFA	2.02
153	Cardiomyopathy, dilated, 1w	Enrichment	VCL	2.02
154	Camurati-engelmann disease 2	Enrichment	TGFB2	2.02
155	Familial hemophagocytic lymphohistiocytosis 5	Enrichment	STXBP2	2.02
156	Otopalatodigital syndrome spectrum disorder	Enrichment	FLNA	2.02
157	Cerebral amyloid angiopathy, app-related	Enrichment	APP	2.02
158	Hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease	Enrichment	STXBP2	2.02
159	Platelet glycoprotein iv deficiency	Enrichment	CD36	2.02
160	Gaucher disease, atypical, due to saposin c deficiency	Enrichment	PSAP	2.02
161	Cardiomyopathy, familial hypertrophic, 15	Enrichment	VCL	2.02
162	Long qt syndrome 16	Enrichment	CALM3	2.02
163	Bleeding disorder, platelet-type, 15	Enrichment	ACTN1	2.02
164	Oocyte/zygote/embryo maturation arrest 23	Enrichment	TUBA4A	2.02
165	Frontotemporal dementia and/or amyotrophic lateral sclerosis 9	Enrichment	TUBA4A	2.02
166	Alpha-1-antitrypsin deficiency	Enrichment	SERPINA1	2.02
167	Krabbe disease, atypical, due to saposin a deficiency	Enrichment	PSAP	2.02
168	Factor xiii, a subunit, deficiency of	Enrichment	F13A1	2.02
169	Protein s deficiency	Enrichment	PROS1	2.02
170	Loeys-dietz syndrome 5	Enrichment	TGFB3	2.02
171	X-linked ehlers-danlos syndrome	Enrichment	FLNA	2.02
172	Congenital analbuminemia	Enrichment	ALB	2.02
173	Von willebrand's disease	Enrichment	VWF	2.02
174	Myopathy, distal, 6, adult-onset, autosomal dominant	Enrichment	ACTN2	2.02
175	Factor v atlanta bleeding disorder	Enrichment	F5	2.02
176	Macular dystrophy, retinal, 4	Enrichment	CLEC3B	2.02
177	Analbuminemia	Enrichment	ALB	2.02
178	Long qt syndrome 15	Enrichment	CALM2	2.02
179	Congenital myopathy 26	Enrichment	TUBA4A	2.02
180	Spastic ataxia 11, autosomal dominant	Enrichment	TUBA4A	2.02
181	Amyotrophic lateral sclerosis type 22	Enrichment	TUBA4A	2.02
182	Congenital fibrinogen deficiency	Enrichment	FGG	2.02
183	Hemorrhagic disease due to alpha-1-antitrypsin pittsburgh mutation	Enrichment	SERPINA1	2.02
184	C1 inhibitor deficiency	Enrichment	SERPING1	2.02
185	Factor v leiden thrombophilia	Enrichment	F5	2.02
186	Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome	Enrichment	TTN	2.02
187	Capillary leak syndrome	Enrichment	TLN1	2.02
188	Congenital primary lymphedema of gordon	Enrichment	VEGFC	2.02
189	Hereditary angioedema with c1inh deficiency	Enrichment	SERPING1	2.02
190	Congenital plasminogen activator inhibitor type 1 deficiency	Enrichment	SERPINE1	2.02
191	Factor v amsterdam bleeding disorder	Enrichment	F5	2.02
192	Hereditary thrombophilia due to congenital protein s deficiency	Enrichment	PROS1	2.02
193	X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome	Enrichment	FLNA	2.02
194	Recurrent neisseria infections due to factor d deficiency	Enrichment	CFD	2.02
195	Egf-related primary hypomagnesemia with intellectual disability	Enrichment	EGF	2.02
196	Sudden infant death syndrome	Enrichment	CALM2, TTN	1.95
197	Erythrocytosis, familial, 1	Enrichment	JAK2, SH2B3	1.93
198	Hemophilia a	Enrichment	F8, F9	1.93
199	Budd-chiari syndrome	Enrichment	F5, JAK2	1.93
200	Carney complex variant	Enrichment	PDE11A, PRKAR1A	1.93
201	Factor viii deficiency	Enrichment	F8, F9	1.93
202	Lung sarcomatoid carcinoma	Enrichment	KRAS, TP53	1.93
203	Hereditary angioedema with normal c1inh not related to f12 or plg variant	Enrichment	ANGPT1, KNG1	1.93
204	Pseudomyogenic hemangioendothelioma	Enrichment	ACTB, SERPINE1	1.93
205	Myelodysplastic syndrome	Enrichment	GATA2, GNB1, TP53	1.92
206	Cowden syndrome	Enrichment	AKT1, PIK3CA	1.91
207	Non-immune hydrops fetalis	Enrichment	ANGPT2, HRAS, KIF19, KRAS, PTPN11	1.90
208	Gastric cancer	Enrichment	EPCAM, IRF1, KRAS, PIK3CA, RAD51C, TP53	1.89
209	Familial isolated dilated cardiomyopathy	Enrichment	ACTN2, TTN, VCL	1.86
210	Lissencephaly	Enrichment	TUBA1A, TUBA3E, TUBB2B, TUBB3	1.85
211	Primary bone dysplasia	Enrichment	COL1A1, COL1A2	1.82
212	Juvenile myelomonocytic leukemia	Enrichment	KRAS, NRAS, PTPN11	1.81
213	Sensorineural hearing loss	Enrichment	STX4	1.76
214	Osteochondrodysplasia	Enrichment	COL1A1, COL1A2	1.74
215	Specific learning disability	Enrichment	MAPK1, PTPN11	1.74
216	Cerebral amyloid angiopathy, cst3-related	Enrichment	APP	1.72
217	Cyclic neutropenia	Enrichment	CFD	1.72
218	Sorsby fundus dystrophy	Enrichment	TIMP3	1.72
219	Camurati-engelmann disease 1	Enrichment	TGFB1	1.72
220	Spondyloepimetaphyseal dysplasia, strudwick type	Enrichment	FN1	1.72
221	Spondylometaphyseal dysplasia, corner fracture type	Enrichment	FN1	1.72
222	Visceral neuropathy, familial, 1, autosomal recessive	Enrichment	FLNA	1.72
223	Plasminogen deficiency, type i	Enrichment	PLG	1.72
224	Otopalatodigital syndrome, type ii	Enrichment	FLNA	1.72
225	Melnick-needles syndrome	Enrichment	FLNA	1.72
226	Frontometaphyseal dysplasia 1	Enrichment	FLNA	1.72
227	Ventricular tachycardia, catecholaminergic polymorphic, 4	Enrichment	CALM1	1.72
228	Silver-russell syndrome 3	Enrichment	IGF2	1.72
229	Thrombophilia due to histidine-rich glycoprotein deficiency	Enrichment	HRG	1.72
230	Long qt syndrome 14	Enrichment	CALM1	1.72
231	Diabetes, deafness, developmental delay, and short stature syndrome	Enrichment	MANF	1.72
232	Cardiac valvular dysplasia, x-linked	Enrichment	FLNA	1.72
233	Inflammatory bowel disease, immunodeficiency, and encephalopathy	Enrichment	TGFB1	1.72
234	Bleeding disorder, east texas type	Enrichment	F5	1.72
235	Combined saposin deficiency	Enrichment	PSAP	1.72
236	Glycogen storage disease xii	Enrichment	ALDOA	1.72
237	Surfactant metabolism dysfunction, pulmonary, 3	Enrichment	F8	1.72
238	Osteogenesis imperfecta, type xvii	Enrichment	SPARC	1.72
239	Camurati-engelmann disease	Enrichment	TGFB1	1.72
240	Spastic tetraplegia and axial hypotonia, progressive	Enrichment	SOD1	1.72
241	Mitochondrial complex iv deficiency, nuclear type 12	Enrichment	STXBP2	1.72
242	Jaberi-elahi syndrome	Enrichment	GTPBP2	1.72
243	Combined psap deficiency	Enrichment	PSAP	1.72
244	Hypoalphalipoproteinemia, primary, 2, intermediate	Enrichment	APOA1	1.72
245	Fibrosis, neurodegeneration, and cerebral angiomatosis	Enrichment	NHLRC2	1.72
246	Thrombophilia due to hrg deficiency	Enrichment	HRG	1.72
247	Amyloidosis, hereditary systemic 3	Enrichment	APOA1	1.72
248	Growth delay due to insulin-like growth factor type 1 deficiency	Enrichment	IGF1	1.72
249	Inclusion myopathy	Enrichment	TTN	1.72
250	Silver-russell syndrome due to an imprinting defect of 11p15	Enrichment	IGF2	1.72
251	Silver-russell syndrome due to 11p15 microduplication	Enrichment	IGF2	1.72
252	Alzheimer disease 2	Enrichment	NOS3, PLAU	1.72
253	Congenital heart defects, multiple types, 4	Enrichment	GATA4, GATA6	1.72
254	Lymphoma	Enrichment	PTPN11, TP53	1.72
255	Acute megakaryocytic leukemia	Enrichment	GATA1, TP53	1.72
256	Bernard-soulier syndrome, type a2, autosomal dominant	Enrichment	GP1BA	1.71
257	Anhidrosis, isolated, with normal sweat glands	Enrichment	ITPR2	1.71
258	Macrodactyly	Enrichment	PIK3CA	1.71
259	Proteus syndrome	Enrichment	AKT1	1.71
260	Hypocalciuric hypercalcemia, familial, type ii	Enrichment	GNA11	1.71
261	Metachondromatosis	Enrichment	PTPN11	1.71
262	Ehlers-danlos syndrome, cardiac valvular type	Enrichment	COL1A2	1.71
263	Nonarteritic anterior ischemic optic neuropathy	Enrichment	GP1BA	1.71
264	Thrombocythemia 2	Enrichment	MPL	1.71
265	Noonan syndrome 5	Enrichment	RAF1	1.71
266	Noonan syndrome 4	Enrichment	SOS1	1.71
267	Immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis	Enrichment	RAC2	1.71
268	Von willebrand disease, platelet-type	Enrichment	GP1BA	1.71
269	Megalencephaly, autosomal dominant	Enrichment	PIK3CA	1.71
270	Prothrombin deficiency, congenital	Enrichment	F2	1.71
271	Leopard syndrome 1	Enrichment	PTPN11	1.71
272	Cardiomyopathy, dilated, 1nn	Enrichment	RAF1	1.71
273	Cowden syndrome 5	Enrichment	PIK3CA	1.71
274	Focal segmental glomerulosclerosis 2	Enrichment	TRPC6	1.71
275	Amegakaryocytic thrombocytopenia, congenital, 1	Enrichment	MPL	1.71
276	Bleeding disorder, platelet-type, 18	Enrichment	RASGRP2	1.71
277	Ataxia-oculomotor apraxia 3	Enrichment	PIK3R5	1.71
278	Bleeding disorder, platelet-type, 11	Enrichment	GP6	1.71
279	Spinocerebellar ataxia 41	Enrichment	TRPC3	1.71
280	Neuroocular syndrome 2, paroxysmal type	Enrichment	DAGLA	1.71
281	Autoimmune lymphoproliferative syndrome, type iii	Enrichment	PRKCD	1.71
282	Sturge-weber syndrome	Enrichment	GNAQ	1.71
283	Ventricular tachycardia, familial	Enrichment	GNAI2	1.71
284	Immunodeficiency 64 with lymphoproliferation	Enrichment	RASGRP1	1.71
285	Cerebral cavernous malformations 4	Enrichment	PIK3CA	1.71
286	Neurodevelopmental disorder with hypotonia and dysmorphic facies	Enrichment	GNB2	1.71
287	Noonan syndrome 13	Enrichment	MAPK1	1.71
288	Immunodeficiency 81	Enrichment	LCP2	1.71
289	Immunodeficiency 82 with systemic inflammation	Enrichment	SYK	1.71
290	Charcot-marie-tooth disease, demyelinating, type 1j	Enrichment	ITPR3	1.71
291	Amegakaryocytic thrombocytopenia, congenital, 2	Enrichment	THPO	1.71
292	Short syndrome	Enrichment	PIK3R1	1.71
293	Combined osteogenesis imperfecta and ehlers-danlos syndrome 2	Enrichment	COL1A2	1.71
294	Bleeding disorder, platelet-type, 13	Enrichment	TBXA2R	1.71
295	Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia	Enrichment	RAC2	1.71
296	Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities	Enrichment	GNAI1	1.71
297	Lodder-merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia	Enrichment	GNB5	1.71
298	Hemifacial myohyperplasia	Enrichment	PIK3CA	1.71
299	Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth	Enrichment	PIK3CA	1.71
300	Leopard syndrome 2	Enrichment	RAF1	1.71
301	Cytosolic phospholipase-a2 alpha deficiency associated bleeding disorder	Enrichment	PLA2G4A	1.71
302	Immunodeficiency 36 with lymphoproliferation	Enrichment	PIK3R1	1.71
303	Autoinflammation, antibody deficiency, and immune dysregulation	Enrichment	PLCG2	1.71
304	Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies	Enrichment	RAP1B	1.71
305	Hypocalcemia, autosomal dominant 2	Enrichment	GNA11	1.71
306	Cowden syndrome 6	Enrichment	AKT1	1.71
307	Hereditary thrombocytosis with transverse limb defect	Enrichment	THPO	1.71
308	Charcot-marie-tooth disease, dominant intermediate f	Enrichment	GNB4	1.71
309	Agammaglobulinemia 7, autosomal recessive	Enrichment	PIK3R1	1.71
310	Immunodeficiency 97 with autoinflammation	Enrichment	PIK3CG	1.71
311	Pregnancy loss, recurrent 2	Enrichment	F2	1.71
312	Familial cold autoinflammatory syndrome 3	Enrichment	PLCG2	1.71
313	Immunodeficiency 22	Enrichment	LCK	1.71
314	Thrombocytopenia 6	Enrichment	SRC	1.71
315	Gastrointestinal ulceration, recurrent, with dysfunctional platelets	Enrichment	PLA2G4A	1.71
316	Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies	Enrichment	RHOA	1.71
317	Takenouchi-kosaki syndrome	Enrichment	CDC42	1.71
318	Intellectual developmental disorder, autosomal dominant 42	Enrichment	GNB1	1.71
319	Sick sinus syndrome 4	Enrichment	GNB2	1.71
320	Autoinflammatory disease, systemic, with vasculitis	Enrichment	LYN	1.71
321	Thrombocytopenia, anemia, and myelofibrosis	Enrichment	MPIG6B	1.71
322	Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies	Enrichment	RHOA	1.71
323	Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia	Enrichment	RAC2	1.71
324	Trigonitis	Enrichment	RAF1	1.71
325	Segmental progressive overgrowth syndrome with fibroadipose hyperplasia	Enrichment	PIK3CA	1.71
326	Asphyxia neonatorum	Enrichment	COL1A1	1.71
327	Thrombocytopenia 9	Enrichment	THPO	1.71
328	Bernard-soulier syndrome type a2	Enrichment	GP1BA	1.71
329	Lipodystrophy, familial partial, type 8	Enrichment	ADRA2A	1.71
330	Hypospadias	Enrichment	PIK3CA	1.71
331	Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy	Enrichment	ITPR3	1.71
332	Colitis	Enrichment	SYK	1.71
333	Prothrombin deficiency	Enrichment	F2	1.71
334	Rare venous malformation	Enrichment	PIK3CA	1.71
335	Vegetative pyoderma gangrenosum	Enrichment	PTPN6	1.71
336	Bullous pyoderma gangrenosum	Enrichment	PTPN6	1.71
337	Immunodeficiency 64	Enrichment	RASGRP1	1.71
338	Diaphragmatic eventration	Enrichment	PIK3CA	1.71
339	Infantile lad-like disease due to rac2 deficiency	Enrichment	RAC2	1.71
340	Ebv-induced lymphoproliferative disease due to rasgrp1 deficiency	Enrichment	RASGRP1	1.71
341	Pustular pyoderma gangrenosum	Enrichment	PTPN6	1.71
342	Reticular dysgenesis-like severe combined immunodeficiency	Enrichment	RAC2	1.71
343	Nocarh syndrome	Enrichment	CDC42	1.71
344	Pik3ca-related overgrowth spectrum	Enrichment	PIK3CA	1.71
345	Rare combined vascular malformation	Enrichment	PIK3CA	1.71
346	Bleeding diathesis due to thromboxane synthesis deficiency	Enrichment	TBXA2R	1.71
347	Cavernous lymphangioma	Enrichment	PIK3CA	1.71
348	Cryptogenic multifocal ulcerous stenosing enteritis	Enrichment	PLA2G4A	1.71
349	Pik3ca-related overgrowth syndrome	Enrichment	PIK3CA	1.71
350	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom	Enrichment	RAC1	1.71
351	Classic pyoderma gangrenosum	Enrichment	PTPN6	1.71
352	Phakomatosis cesiomarmorata	Enrichment	GNA11	1.71
353	Hemihyperplasia-multiple lipomatosis syndrome	Enrichment	PIK3CA	1.71
354	Kaposiform hemangioendothelioma	Enrichment	GNA14	1.71
355	Eccrine angiomatous hamartoma	Enrichment	PIK3CA	1.71
356	Rac2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome	Enrichment	RAC2	1.71
357	Macrodactyly of toe	Enrichment	PIK3CA	1.71
358	Malignant astrocytoma	Enrichment	PTPN11	1.71
359	Protein-deficiency anemia	Enrichment	GATA1, HBB, NRAS	1.71
360	Congenital long qt syndrome	Enrichment	ITPR3, PTPN11	1.67
361	Familial atrial fibrillation	Enrichment	GATA4, GATA5, GATA6, TTN	1.65
362	46,xy partial gonadal dysgenesis	Enrichment	GATA4, SOS1, ZFPM2	1.62
363	Chromosome 1p36 deletion syndrome	Enrichment	PDPN, PRKCZ	1.60
364	Familial hypertrophic cardiomyopathy	Enrichment	ACTN2, LAMP2, RAF1	1.60
365	Colorectal cancer	Enrichment	AKT1, IGF2, PIK3CA, PIK3R1, SRC	1.58
366	Conotruncal heart malformations	Enrichment	GATA6, ZFPM2	1.56
367	Adrenocortical carcinoma	Enrichment	PRKAR1A, TP53	1.56
368	Lung squamous cell carcinoma	Enrichment	KRAS, PIK3CA	1.56
369	Hyper-ige syndrome 1, autosomal dominant, with recurrent infections	Enrichment	ITGB3	1.55
370	Prune belly syndrome	Enrichment	FLNA	1.55
371	Arterial tortuosity syndrome	Enrichment	FLNA	1.55
372	Neutropenia, severe congenital, 1, autosomal dominant	Enrichment	CFD	1.55
373	Myopathy, myofibrillar, 1	Enrichment	TTN	1.55
374	Intellectual developmental disorder, x-linked 109	Enrichment	SERPINA1	1.55
375	Glomerulopathy with fibronectin deposits 2	Enrichment	FN1	1.55
376	Nonaka myopathy	Enrichment	TTN	1.55
377	Congenital short bowel syndrome	Enrichment	FLNA	1.55
378	Intellectual developmental disorder, autosomal dominant 61	Enrichment	WDR1	1.55
379	Hypoalphalipoproteinemia, primary, 2	Enrichment	APOA1	1.55
380	Intrinsic cardiomyopathy	Enrichment	ACTN2	1.55
381	Frontometaphyseal dysplasia	Enrichment	FLNA	1.55
382	Spastic paraplegia 50, autosomal recessive	Enrichment	APOA1	1.55
383	Bleeding disorder, platelet-type, 24	Enrichment	ITGB3	1.55
384	Alopecia - intellectual disability syndrome	Enrichment	AHSG	1.55
385	Beckwith-wiedemann syndrome due to imprinting defect of 11p15	Enrichment	IGF2	1.55
386	Atypical hemolytic-uremic syndrome	Enrichment	ADAMTS13, DGKE, HBB	1.54
387	Lynch syndrome	Enrichment	EPCAM, KRAS, PIK3CA	1.54
388	Multiple sclerosis	Enrichment	CD109, ITPR1	1.54
389	Tetralogy of fallot	Enrichment	GATA4, GATA5, GATA6, ZFPM2	1.53
390	Osteogenesis imperfecta, type iii	Enrichment	COL1A1, COL1A2	1.48
391	Leukemia, acute myeloid	Enrichment	GATA2, JAK2, KRAS, NRAS, TP53	1.46
392	Long qt syndrome	Enrichment	CALM1, CALM2	1.46
393	Krabbe disease	Enrichment	PSAP	1.43
394	Myopathy, centronuclear, 2	Enrichment	TTN	1.43
395	Hypoalphalipoproteinemia, primary, 1	Enrichment	APOA1	1.43
396	Left ventricular noncompaction 2	Enrichment	TTN	1.43
397	Pregnancy loss, recurrent 3	Enrichment	ANXA5	1.43
398	Blood platelet disease	Enrichment	CD36	1.43
399	Pregnancy loss, recurrent 1	Enrichment	F5	1.43
400	Cerebral malaria	Enrichment	CD36	1.43
401	Silver-russell syndrome due to a point mutation	Enrichment	IGF2	1.43
402	Thyroid cancer, nonmedullary, 2	Enrichment	HRAS, NRAS	1.42
403	Polymicrogyria, bilateral perisylvian, x-linked	Enrichment	TUBA1A, TUBB2B	1.42
404	Capillary malformation-arteriovenous malformation 1	Enrichment	KRAS, PIK3CA	1.42
405	Pilomyxoid astrocytoma	Enrichment	KRAS, RAF1	1.42
406	Follicular thyroid carcinoma	Enrichment	HRAS, NRAS	1.42
407	B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)	Enrichment	ABL1, TP53	1.42
408	Spinocerebellar ataxia 29	Enrichment	ITPR1	1.42
409	Epiphyseal dysplasia, multiple, 1	Enrichment	COL1A1	1.42
410	Fibromatosis, gingival, 1	Enrichment	SOS1	1.42
411	Pituitary adenoma 4, acth-secreting	Enrichment	GNAI2	1.42
412	Bruck syndrome 1	Enrichment	COL1A2	1.42
413	Cutis marmorata telangiectatica congenita	Enrichment	GNA11	1.42
414	Pulmonic stenosis	Enrichment	SOS1	1.42
415	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	Enrichment	PIK3R5	1.42
416	Bleeding disorder, platelet-type, 8	Enrichment	P2RY12	1.42
417	Keratosis, seborrheic	Enrichment	PIK3CA	1.42
418	Angioma, tufted	Enrichment	GNA14	1.42
419	Night blindness, congenital stationary, type 1h	Enrichment	GNB3	1.42
420	Noonan syndrome 8	Enrichment	PIK3CA	1.42
421	Combined osteogenesis imperfecta and ehlers-danlos syndrome 1	Enrichment	COL1A1	1.42
422	Intellectual developmental disorder, autosomal dominant 48	Enrichment	RAC1	1.42
423	Werner syndrome	Enrichment	PTPN11	1.42
424	Rosette-forming glioneuronal tumor	Enrichment	PIK3CA	1.42
425	Autosomal dominant hypocalcemia	Enrichment	GNA11	1.42
426	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	Enrichment	ABHD12	1.42
427	Stickler syndrome, type ii	Enrichment	COL1A1	1.42
428	Nephrotic syndrome, type 7	Enrichment	DGKE	1.42
429	Immune system disease	Enrichment	CDC42	1.42
430	Hypopituitarism	Enrichment	GNAI2	1.42
431	Lodder-merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia	Enrichment	GNB5	1.42
432	Immunodeficiency 52	Enrichment	LAT	1.42
433	Arthritis	Enrichment	SYK	1.42
434	Dentinogenesis imperfecta	Enrichment	COL1A2	1.42
435	Hemolytic-uremic syndrome	Enrichment	DGKE	1.42
436	Cerebral visual impairment	Enrichment	GNB1	1.42
437	Alzheimer disease, familial, 1	Enrichment	APP, NOS3, PLAU	1.40
438	Hypertension, essential	Enrichment	ATP1B1, GNB3, NOS3	1.40
439	Bladder cancer	Enrichment	HRAS, KRAS, PIK3CA, TP53	1.38
440	Severe covid-19	Enrichment	DGKE, DOCK8, F13B, ITGAV	1.38
441	Cleft palate, isolated	Enrichment	FLNA, GNB1	1.38
442	Fibrosis of extraocular muscles, congenital, 1	Enrichment	KIF21A	1.34
443	Thrombophilia due to protein c deficiency, autosomal dominant	Enrichment	PROC	1.34
444	Pyloric stenosis, infantile hypertrophic, 1	Enrichment	NOS1	1.34
445	Charcot-marie-tooth disease, axonal, type 2a1	Enrichment	KIF1B	1.34
446	Acrodysostosis 1 with or without hormone resistance	Enrichment	PRKAR1A	1.34
447	Microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development	Enrichment	KIF11	1.34
448	Factor vii deficiency	Enrichment	F7	1.34
449	Hydrocephalus due to congenital stenosis of aqueduct of sylvius	Enrichment	L1CAM	1.34
450	Baraitser-winter syndrome 1	Enrichment	ACTB	1.34
451	Oculoectodermal syndrome	Enrichment	KRAS	1.34
452	Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement	Enrichment	TUBB3	1.34
453	Warfarin sensitivity, x-linked	Enrichment	F9	1.34
454	Intellectual developmental disorder, x-linked 100	Enrichment	KIF4A	1.34
455	Anemia, congenital, nonspherocytic hemolytic, 9	Enrichment	GATA1	1.34
456	Systemic lupus erythematosus 6	Enrichment	ITGAM	1.34
457	Thrombocytopenia, x-linked, with or without dyserythropoietic anemia	Enrichment	GATA1	1.34
458	Spastic paraplegia 10, autosomal dominant	Enrichment	KIF5A	1.34
459	Deafness, autosomal dominant 41	Enrichment	P2RX2	1.34
460	Autoinflammatory disease, multisystem, with immune dysregulation, x-linked	Enrichment	DOCK11	1.34
461	Taurodontism, microdontia, and dens invaginatus	Enrichment	KIF4A	1.34
462	Thrombocytopenia with beta-thalassemia, x-linked	Enrichment	GATA1	1.34
463	Angioedema, hereditary, 3	Enrichment	F12	1.34
464	Pseudohypoparathyroidism, type ic	Enrichment	GNAS	1.34
465	Lipodystrophy, congenital generalized, type 3	Enrichment	CAV1	1.34
466	Carney complex, type 1	Enrichment	PRKAR1A	1.34
467	Prekallikrein deficiency	Enrichment	KLKB1	1.34
468	Hemolytic uremic syndrome, atypical 6	Enrichment	THBD	1.34
469	Osseous heteroplasia, progressive	Enrichment	GNAS	1.34
470	Melanosis, neurocutaneous	Enrichment	NRAS	1.34
471	Erythrocyte lactate transporter defect	Enrichment	SLC16A1	1.34
472	Macrothrombocytopenia, isolated, 1, autosomal dominant	Enrichment	TUBB1	1.34
473	Noonan syndrome 6	Enrichment	NRAS	1.34
474	Dyskinesia, limb and orofacial, infantile-onset	Enrichment	PDE10A	1.34
475	Aortic aneurysm, familial thoracic 8	Enrichment	PRKG1	1.34
476	Neuroblastoma 1	Enrichment	KIF1B	1.34
477	Pulmonary hypertension, primary, 3	Enrichment	CAV1	1.34
478	Lissencephaly 7 with cerebellar hypoplasia	Enrichment	CDK5	1.34
479	Cortical dysplasia, complex, with other brain malformations 3	Enrichment	KIF2A	1.34
480	Atrioventricular septal defect 4	Enrichment	GATA4	1.34
481	Atrioventricular septal defect 5	Enrichment	GATA6	1.34
482	Acth-independent macronodular adrenal hyperplasia 1	Enrichment	GNAS	1.34
483	Angioedema, hereditary, 5	Enrichment	ANGPT1	1.34
484	Basal ganglia calcification, idiopathic, 8, autosomal recessive	Enrichment	JAM2	1.34
485	Spondylometaphyseal dysplasia, pagnamenta type	Enrichment	PRKG2	1.34
486	Intellectual developmental disorder, autosomal dominant 66	Enrichment	ATP2B1	1.34
487	Cardiomyopathy, familial restrictive, 6	Enrichment	KIF20A	1.34
488	Leber congenital amaurosis with early-onset deafness	Enrichment	TUBB4B	1.34
489	Pituitary adenoma 3, multiple types	Enrichment	GNAS	1.34
490	Corpus callosum, partial agenesis of, x-linked	Enrichment	L1CAM	1.34
491	Combined oxidative phosphorylation deficiency 33	Enrichment	C1QBP	1.34
492	Deafness, autosomal dominant 82	Enrichment	ATP2B2	1.34
493	Hydrocephalus, congenital, x-linked	Enrichment	L1CAM	1.34
494	Congenital heart defects, multiple types, 5	Enrichment	GATA5	1.34
495	Venous malformations, multiple cutaneous and mucosal	Enrichment	TEK	1.34
496	Intellectual developmental disorder, x-linked 58	Enrichment	TSPAN7	1.34
497	Bone marrow failure syndrome 5	Enrichment	TP53	1.34
498	Houge-janssens syndrome 4	Enrichment	PPP2R5C	1.34
499	Thrombophilia, x-linked, due to factor ix defect	Enrichment	F9	1.34
500	Anemia, x-linked, with or without neutropenia and/or platelet abnormalities	Enrichment	GATA1	1.34
501	Congenital smooth muscle hamartoma, with or without hemihypertrophy	Enrichment	ACTB	1.34
502	Immune dysregulation, autoimmunity, and autoinflammation	Enrichment	PLCG1	1.34
503	Lymphedema, primary, with myelodysplasia	Enrichment	GATA2	1.34
504	Papilloma of choroid plexus	Enrichment	TP53	1.34
505	Basal cell carcinoma 7	Enrichment	TP53	1.34
506	Myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities	Enrichment	RBSN	1.34
507	Oocyte/zygote/embryo maturation arrest 24	Enrichment	TUBA1C	1.34
508	Anaplastic thyroid carcinoma	Enrichment	TP53	1.34
509	Masa syndrome	Enrichment	L1CAM	1.34
510	Cardioacrofacial dysplasia 2	Enrichment	PRKACB	1.34
511	Intellectual developmental disorder with paroxysmal dyskinesia or seizures	Enrichment	PDE2A	1.34
512	Myxoma, intracardiac	Enrichment	PRKAR1A	1.34
513	Myoclonus, intractable, neonatal	Enrichment	KIF5A	1.34
514	Lipodystrophy, familial partial, type 7	Enrichment	CAV1	1.34
515	Cortical dysplasia, complex, with other brain malformations 11	Enrichment	KIF26A	1.34
516	Cardiofaciocutaneous syndrome 2	Enrichment	KRAS	1.34
517	Immunodeficiency 10	Enrichment	STIM1	1.34
518	Houge-janssens syndrome 2	Enrichment	PPP2R1A	1.34
519	Multiple symmetric lipomatosis	Enrichment	MFN2	1.34
520	Cholestasis, progressive familial intrahepatic, 8	Enrichment	KIF12	1.34
521	Thrombophilia due to protein c deficiency, autosomal recessive	Enrichment	PROC	1.34
522	Immunodeficiency 40	Enrichment	DOCK2	1.34
523	Spondyloepimetaphyseal dysplasia with joint laxity, type 2	Enrichment	KIF22	1.34
524	Amyotrophic lateral sclerosis 25	Enrichment	KIF5A	1.34
525	Charcot-marie-tooth disease, axonal, autosomal dominant, type 2a2a	Enrichment	MFN2	1.34
526	Becker nevus syndrome	Enrichment	ACTB	1.34
527	Ocular motility disease	Enrichment	KIF21A	1.34
528	Dystonia-deafness syndrome 1	Enrichment	ACTB	1.34
529	Atrial septal defect 2	Enrichment	GATA4	1.34
530	Antithrombin iii deficiency	Enrichment	SERPINC1	1.34
531	Factor xiii, b subunit, deficiency of	Enrichment	F13B	1.34
532	Cortical dysplasia, complex, with other brain malformations 7	Enrichment	TUBB2B	1.34
533	Charcot-marie-tooth disease type 2a1	Enrichment	KIF1B	1.34
534	Immunodeficiency 21	Enrichment	GATA2	1.34
535	Moyamoya disease 6 with or without achalasia	Enrichment	GUCY1A1	1.34
536	Deafness, autosomal recessive 91	Enrichment	SERPINB6	1.34
537	Thrombophilia due to thrombomodulin defect	Enrichment	THBD	1.34
538	Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures	Enrichment	PHF21A	1.34
539	Cleft palate, psychomotor retardation, and distinctive facial features	Enrichment	KDM1A	1.34
540	Retinitis pigmentosa 89	Enrichment	KIF3B	1.34
541	Testicular anomalies with or without congenital heart disease	Enrichment	GATA4	1.34
542	Blood group, gerbich system	Enrichment	GYPC	1.34
543	Pigmented nodular adrenocortical disease, primary, 4	Enrichment	PRKACA	1.34
544	Lynch syndrome 8	Enrichment	EPCAM	1.34
545	Hemorrhagic destruction of the brain, subependymal calcification, and cataracts	Enrichment	JAM3	1.34
546	Disorders of gnas inactivation	Enrichment	GNAS	1.34
547	Peeling skin syndrome 5	Enrichment	SERPINB8	1.34
548	Ductal carcinoma in situ	Enrichment	TP53	1.34
549	Agammaglobulinemia 2, autosomal recessive	Enrichment	IGLL1	1.34
550	Atrial septal defect 9	Enrichment	GATA6	1.34
551	Striatal degeneration, autosomal dominant 2	Enrichment	PDE10A	1.34
552	Neutropenia, severe congenital, 5, autosomal recessive	Enrichment	VPS45	1.34
553	Cardioacrofacial dysplasia 1	Enrichment	PRKACA	1.34
554	Microcephaly 13, primary, autosomal recessive	Enrichment	CENPE	1.34
555	Epilepsy, idiopathic generalized 16	Enrichment	KCNMA1	1.34
556	8p23.1 microdeletion syndrome	Enrichment	GATA4	1.34
557	Spastic paraplegia 75, autosomal recessive	Enrichment	MAG	1.34
558	Bryant-li-bhoj neurodevelopmental syndrome 1	Enrichment	H3-3A	1.34
559	Facial palsy, congenital, with ptosis and velopharyngeal dysfunction	Enrichment	TUBB6	1.34
560	Charcot-marie-tooth disease, axonal, autosomal recessive, type 2a2b	Enrichment	MFN2	1.34
561	Glaucoma 3, primary congenital, e	Enrichment	TEK	1.34
562	Cerebellar atrophy, developmental delay, and seizures	Enrichment	KCNMA1	1.34
563	Deafness-lymphedema-leukemia syndrome	Enrichment	GATA2	1.34
564	Thrombocytopenia 8, with dysmorphic features and developmental delay	Enrichment	ACTB	1.34
565	Spastic paraplegia 30b, autosomal recessive	Enrichment	KIF1A	1.34
566	Moyamoya disease with early-onset achalasia	Enrichment	GUCY1A1	1.34
567	Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia	Enrichment	DOCK3	1.34
568	Sickle cell-beta-thalassemia disease syndrome	Enrichment	HBB	1.34
569	Thyroid gland undifferentiated carcinoma	Enrichment	TP53	1.34
570	Macrothrombocytopenia, isolated, 2, autosomal dominant	Enrichment	TUBA8	1.34
571	Acute megakaryoblastic leukemia in children with down syndrome	Enrichment	GATA1	1.34
572	Braddock-carey syndrome 2	Enrichment	KIF15	1.34
573	Small-cell carcinoma of the ovary of hypercalcemic type	Enrichment	TP53	1.34
574	Baraitser-winter syndrome	Enrichment	ACTB	1.34
575	Lissencephaly due to tuba1a mutation	Enrichment	TUBA1A	1.34
576	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome	Enrichment	KDM1A	1.34
577	Charcot-marie-tooth disease type 5	Enrichment	MFN2	1.34
578	Bockenheimer syndrome	Enrichment	TEK	1.34
579	Thrombocytopenia with congenital dyserythropoietic anemia	Enrichment	GATA1	1.34
580	Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtype	Enrichment	TP53	1.34
581	Neurodegeneration, early-childhood-onset, with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathy	Enrichment	KLC4	1.34
582	Rhabdomyolysis 2	Enrichment	ATP2A2	1.34
583	Chromosome 15q24 deletion syndrome	Enrichment	SIN3A	1.34
584	Prkar1b-related neurodegenerative dementia with intermediate filaments	Enrichment	PRKAR1B	1.34
585	Hemoglobin c-beta-thalassemia syndrome	Enrichment	HBB	1.34
586	21q22.11q22.12 microdeletion syndrome	Enrichment	KIF15	1.34
587	Congenital dyserythropoietic anemia type iiib	Enrichment	RACGAP1	1.34
588	Kariminejad neurodevelopmental syndrome	Enrichment	RBSN	1.34
589	Acth-independent macronodular adrenal hyperplasia 3	Enrichment	KDM1A	1.34
590	Congenital pulmonary airway malformation	Enrichment	KRAS	1.34
591	Choroid plexus cancer	Enrichment	TP53	1.34
592	Polymicrogyria with optic nerve hypoplasia	Enrichment	TUBA8	1.34
593	Fetomaternal alloimmune thrombocytopenia 3	Enrichment	ITGA2	1.34
594	Severe hereditary thrombophilia due to congenital protein c deficiency	Enrichment	PROC	1.34
595	Protein c deficiency	Enrichment	PROC	1.34
596	Immune dysregulation, neurodevelopmental defects, and colitis	Enrichment	ITGAV	1.34
597	Charcot-marie-tooth disease type 2a2b	Enrichment	MFN2	1.34
598	Central nervous system germinoma	Enrichment	JMJD1C	1.34
599	Severe congenital neutropenia 5	Enrichment	VPS45	1.34
600	Sickle cell s-o arab disease	Enrichment	HBB	1.34
601	Congenital smooth muscle hamartoma	Enrichment	ACTB	1.34
602	Urticaria	Enrichment	F12	1.34
603	Sickle cell-beta zero-thalassemia	Enrichment	HBB	1.34
604	Hemophilia b leyden	Enrichment	F9	1.34
605	Partial atrioventricular septal defect with ventricular hypoplasia	Enrichment	GATA4	1.34
606	Developmental malformations-deafness-dystonia syndrome	Enrichment	ACTB	1.34
607	X-linked complicated spastic paraplegia type 1	Enrichment	L1CAM	1.34
608	Growth retardation-mild developmental delay-chronic hepatitis syndrome	Enrichment	SH2B3	1.34
609	Pleomorphic xanthoastrocytoma	Enrichment	TP53	1.34
610	Anemia, congenital dyserythropoietic, type iiib, autosomal recessive	Enrichment	RACGAP1	1.34
611	Monostotic fibrous dysplasia	Enrichment	GNAS	1.34
612	Lethal hydranencephaly-diaphragmatic hernia syndrome	Enrichment	PLAT	1.34
613	Sickle cell s-d punjab disease	Enrichment	HBB	1.34
614	Phakomatosis pigmentokeratotica	Enrichment	HRAS	1.34
615	Ppp2r1a-related neurodevelopmental disorder	Enrichment	PPP2R1A	1.34
616	Autosomal dominant charcot-marie-tooth disease type 2 due to kif5a mutation	Enrichment	KIF5A	1.34
617	Sickle cell s-c disease	Enrichment	HBB	1.34
618	Congenital factor vii deficiency	Enrichment	F7	1.34
619	Severe early-onset obesity-insulin resistance syndrome due to sh2b1 deficiency	Enrichment	SH2B1	1.34
620	Mazabraud syndrome	Enrichment	GNAS	1.34
621	Porencephaly-microcephaly-bilateral congenital cataract syndrome	Enrichment	JAM3	1.34
622	F12-associated cold autoinflammatory syndrome	Enrichment	F12	1.34
623	Hemoglobinopathy toms river	Enrichment	HBG2	1.34
624	Childhood-onset benign chorea with striatal involvement	Enrichment	PDE10A	1.34
625	Neurocutaneous melanocytosis	Enrichment	NRAS	1.34
626	Inherited prekallikrein deficiency	Enrichment	KLKB1	1.34
627	Sickle cell s-e disease	Enrichment	HBB	1.34
628	Temporomandibular joint anomaly	Enrichment	DOCK1	1.34
629	Homozygous hemoglobin o arab disease	Enrichment	HBB	1.34
630	Sickle cell s-other specified hemoglobin variant	Enrichment	HBB	1.34
631	Feingold syndrome 1	Enrichment	TTN	1.33
632	Congenital myopathy 1b, autosomal recessive	Enrichment	TTN	1.33
633	Congenital myopathy 3 with rigid spine	Enrichment	TTN	1.33
634	Insulin-like growth factor i	Enrichment	IGF1	1.33
635	Hemophagocytic lymphohistiocytosis, familial, 1	Enrichment	STXBP2	1.33
636	Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia	Enrichment	SOD1	1.33
637	Glanzmann thrombasthenia 2	Enrichment	ITGB3	1.33
638	Myopathy, tubular aggregate, 1	Enrichment	ORAI1, STIM1	1.31
639	Basal ganglia calcification, idiopathic, 1	Enrichment	JAM2, PDGFB	1.31
640	Spastic paraplegia 4, autosomal dominant	Enrichment	FGG, GNAS	1.31
641	Hereditary breast carcinoma	Enrichment	AKT1, EPCAM, KRAS, PIK3CA, TP53	1.31
642	Nephrotic syndrome	Enrichment	DGKE, FN1, TRPC6	1.30
643	Neuropathy, hereditary motor and sensory, okinawa type	Enrichment	KIF1A, KIF5A, MFN2	1.27
644	Microcephaly	Enrichment	ABL1, ACTB, ATP2B3, GNB1, KIF11, KIF23, MAPK1, MFN2, PTPN11, TUBB4A	1.25
645	Atrial septal defect 1	Enrichment	TGFB2	1.25
646	Metachromatic leukodystrophy	Enrichment	PSAP	1.25
647	Inflammatory bowel disease 25, autosomal recessive	Enrichment	TGFB1	1.25
648	Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy	Enrichment	CALM1	1.25
649	Il10-related early-onset inflammatory bowel disease	Enrichment	TGFB1	1.25
650	Lung cancer	Enrichment	IRF1, KRAS, PIK3CA, PPP2R1B	1.25
651	Gillespie syndrome	Enrichment	ITPR1	1.25
652	Pompe disease, infantile-onset	Enrichment	PIK3CA	1.25
653	Nuchal bleb, familial	Enrichment	SOS1	1.25
654	Caffey disease	Enrichment	COL1A1	1.25
655	Neutrophilic dermatosis, acute febrile	Enrichment	PTPN6	1.25
656	Immunodeficiency 14a with lymphoproliferation, autosomal dominant	Enrichment	PIK3R1	1.25
657	Nizon-isidor syndrome	Enrichment	P2RY12	1.25
658	Immunodeficiency 14	Enrichment	PIK3R1	1.25
659	Tricuspid valve insufficiency	Enrichment	PTPN11	1.25
660	Keratoacanthoma	Enrichment	PIK3CA	1.25
661	Ellis-van creveld syndrome	Enrichment	PRKACA, PRKACB	1.22
662	Bilateral perisylvian polymicrogyria	Enrichment	TUBA1A, TUBB2B	1.22
663	Primary hyperaldosteronism	Enrichment	GNAS, TP53	1.22
664	Autosomal dominant cerebellar ataxia	Enrichment	DAGLA, KIF26B	1.22
665	Fundus albipunctatus	Enrichment	CD63	1.19
666	Silver-russell syndrome 1	Enrichment	IGF2	1.19
667	Third-degree atrioventricular block	Enrichment	TTN	1.19
668	Alzheimer's disease 1	Enrichment	APP	1.19
669	Motor neuron disease	Enrichment	SOD1	1.19
670	Early-onset autosomal dominant alzheimer disease	Enrichment	APP	1.19
671	Attention deficit-hyperactivity disorder	Enrichment	GNB5, MAGED2	1.18
672	Brittle bone disorder	Enrichment	COL1A1, COL1A2	1.14
673	Congenital stationary night blindness	Enrichment	CD63, GNB3	1.14
674	Fanconi anemia, complementation group c	Enrichment	FLNA	1.13
675	Orthostatic intolerance	Enrichment	TTN	1.13
676	Congenital muscular dystrophy	Enrichment	TTN	1.13
677	Catecholaminergic polymorphic ventricular tachycardia 1	Enrichment	CALM1	1.13
678	Myocarditis	Enrichment	TTN	1.13
679	Leukemia, chronic lymphocytic	Enrichment	P2RX7, TP53	1.13
680	Autosomal non-syndromic agammaglobulinemia	Enrichment	IGLL1, PIK3R1	1.13
681	Phenylketonuria	Enrichment	COL1A1	1.12
682	Spastic paraplegia 17, autosomal dominant	Enrichment	GNG3	1.12
683	Auriculocondylar syndrome 1	Enrichment	GNAI3	1.12
684	Lipodystrophy, congenital generalized, type 2	Enrichment	GNG3	1.12
685	Chromosome 22q11.2 deletion syndrome, distal	Enrichment	MAPK1	1.12
686	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Enrichment	PIK3R2	1.12
687	Spinocerebellar ataxia 15	Enrichment	ITPR1	1.12
688	Achromatopsia 4	Enrichment	GNAI3	1.12
689	Cerebrovascular disease	Enrichment	PIK3CA	1.12
690	Familial cerebral cavernous malformations	Enrichment	PIK3CA	1.12
691	Gingival fibromatosis	Enrichment	SOS1	1.12
692	Familial sick sinus syndrome	Enrichment	GNB2	1.12
693	Orofacial cleft 1	Enrichment	TTN	1.08
694	Arrhythmogenic right ventricular dysplasia, familial, 9	Enrichment	TTN	1.08
695	Limb-girdle muscular dystrophy	Enrichment	TTN	1.08
696	Myeloproliferative syndrome, transient	Enrichment	GATA1	1.05
697	Blue rubber bleb nevus	Enrichment	TEK	1.05
698	Dystonia 4, torsion, autosomal dominant	Enrichment	TUBB4A	1.05
699	Hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome	Enrichment	GATA3	1.05
700	Acrokeratosis verruciformis	Enrichment	ATP2A2	1.05
701	Pseudohypoparathyroidism, type ia	Enrichment	GNAS	1.05
702	Adrenocortical carcinoma, hereditary	Enrichment	TP53	1.05
703	Costello syndrome	Enrichment	HRAS	1.05
704	Amelogenesis imperfecta, type ig	Enrichment	PRKAR1A	1.05
705	Microcephaly and chorioretinopathy, autosomal recessive, 1	Enrichment	KIF11	1.05
706	Porphyria, congenital erythropoietic	Enrichment	GATA1	1.05
707	Spinocerebellar ataxia, x-linked 1	Enrichment	ATP2B3	1.05
708	Brody disease	Enrichment	ATP2A1	1.05
709	Spinocerebellar ataxia, x-linked 5	Enrichment	ATP2B3	1.05
710	Quebec platelet disorder	Enrichment	PLAU	1.05
711	Cervical cancer	Enrichment	TP53	1.05
712	Hypertension, diastolic	Enrichment	KCNMB1	1.05
713	Thrombotic thrombocytopenic purpura, hereditary	Enrichment	ADAMTS13	1.05
714	Pseudopseudohypoparathyroidism	Enrichment	GNAS	1.05
715	Lipomatosis, multiple symmetric, with or without axonal peripheral neuropathy	Enrichment	MFN2	1.05
716	Spastic paraplegia, optic atrophy, and neuropathy	Enrichment	KLC2	1.05
717	Melanoma, cutaneous malignant 6	Enrichment	KLC1	1.05
718	Immunodeficiency 9	Enrichment	ORAI1	1.05
719	Encephalocraniocutaneous lipomatosis	Enrichment	KRAS	1.05
720	Chromosome 16p11.2 deletion syndrome, 220-kb	Enrichment	SH2B1	1.05
721	46,xy sex reversal 9	Enrichment	ZFPM2	1.05
722	Cholesteatoma, congenital	Enrichment	F13B	1.05
723	Monocarboxylate transporter 1 deficiency	Enrichment	SLC16A1	1.05
724	Bleeding disorder, platelet-type, 19	Enrichment	PRKACG	1.05
725	Factor xii deficiency	Enrichment	F12	1.05
726	Diarrhea 5, with tufting enteropathy, congenital	Enrichment	EPCAM	1.05
727	Muscular dystrophy, limb-girdle, autosomal recessive 3	Enrichment	TUBA1A	1.05
728	Lymphoma, hodgkin, classic	Enrichment	TP53	1.05
729	Thrombocythemia 3	Enrichment	JAK2	1.05
730	Pigmented nodular adrenocortical disease, primary, 2	Enrichment	PDE11A	1.05
731	Cyanosis, transient neonatal	Enrichment	HBG2	1.05
732	Adams-oliver syndrome 2	Enrichment	DOCK6	1.05
733	Nescav syndrome	Enrichment	KIF1A	1.05
734	Houge-janssens syndrome 1	Enrichment	PPP2R5D	1.05
735	Neutropenia, severe congenital, 8, autosomal dominant	Enrichment	GATA6	1.05
736	Hypobetalipoproteinemia, familial, 1	Enrichment	APOB	1.05
737	Marbach-schaaf neurodevelopmental syndrome	Enrichment	PRKAR1B	1.05
738	Congenital heart defects and skeletal malformations syndrome	Enrichment	ABL1	1.05
739	Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity	Enrichment	ESAM	1.05
740	Peho syndrome	Enrichment	KIF1A	1.05
741	Keratoconus 9	Enrichment	TUBA3D	1.05
742	Usher syndrome, type iv	Enrichment	PRKAR1A	1.05
743	Autosomal recessive limb-girdle muscular dystrophy type 2d	Enrichment	TUBA1A	1.05
744	Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome	Enrichment	ITGA3	1.05
745	Spastic paraplegia 30a, autosomal dominant	Enrichment	KIF1A	1.05
746	Microcephaly and chorioretinopathy 1	Enrichment	KIF11	1.05
747	Lissencephaly 3	Enrichment	TUBA1A	1.05
748	Myopathy, tubular aggregate, 2	Enrichment	ORAI1	1.05
749	Recessive dystrophic epidermolysis bullosa	Enrichment	MMP1	1.05
750	Acromesomelic dysplasia 4	Enrichment	PRKG2	1.05
751	Factor xi deficiency	Enrichment	F11	1.05
752	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	Enrichment	KIF5A	1.05
753	Acrodysostosis	Enrichment	PRKAR1A	1.05
754	Pseudohypoparathyroidism	Enrichment	GNAS	1.05
755	Chromosome 16p11.2 deletion syndrome, 593-kb	Enrichment	SH2B1	1.05
756	Congenital fibrosarcoma	Enrichment	TP53	1.05
757	46,xy sex reversal 3	Enrichment	GATA4	1.05
758	Hypobetalipoproteinemia, familial, 2	Enrichment	DOCK7	1.05
759	Li-fraumeni syndrome 1	Enrichment	TP53	1.05
760	Thrombotic thrombocytopenic purpura	Enrichment	ADAMTS13	1.05
761	Sarcoma	Enrichment	TP53	1.05
762	Witteveen-kolk syndrome	Enrichment	SIN3A	1.05
763	Fibrolamellar carcinoma	Enrichment	PRKACA	1.05
764	Hyperinsulinemic hypoglycemia, familial, 7	Enrichment	SLC16A1	1.05
765	Angiocentric glioma	Enrichment	MYB	1.05
766	Cortical dysplasia, complex, with other brain malformations 1	Enrichment	TUBB3	1.05
767	Neuropathy, hereditary sensory, type iic	Enrichment	KIF1A	1.05
768	Hypobetalipoproteinemia	Enrichment	APOB	1.05
769	Axonal neuropathy	Enrichment	MFN2	1.05
770	Developmental and epileptic encephalopathy 23	Enrichment	DOCK7	1.05
771	Cervix carcinoma	Enrichment	TP53	1.05
772	Hodgkin's lymphoma	Enrichment	TP53	1.05
773	Ciliary dyskinesia, primary, 18	Enrichment	PRKAR1B	1.05
774	B-lymphoblastic leukemia/lymphoma with hyperdiploidy	Enrichment	GATA3	1.05
775	Paget's disease of bone	Enrichment	DOCK6	1.05
776	Baraitser-winter cerebrofrontofacial syndrome	Enrichment	ACTB	1.05
777	Retinitis pigmentosa 38	Enrichment	MERTK	1.05
778	Hypoparathyroidism-deafness-renal disease syndrome	Enrichment	GATA3	1.05
779	Polycythemia	Enrichment	JAK2	1.05
780	Torsion dystonia 4	Enrichment	TUBB4A	1.05
781	Hereditary spastic paraplegia 30	Enrichment	KIF1A	1.05
782	Lymphatic malformation 10	Enrichment	ANGPT2	1.05
783	Houge-janssens syndrome 3	Enrichment	PPP2CA	1.05
784	Dental caries	Enrichment	ATP2B3	1.05
785	Liang-wang syndrome	Enrichment	KCNMA1	1.05
786	Demyelinating polyneuropathy	Enrichment	KIF5A	1.05
787	Cholesteatoma	Enrichment	F13B	1.05
788	Autosomal dominant nonsyndromic deafness	Enrichment	GATA3	1.05
789	Acth-independent macronodular adrenal hyperplasia	Enrichment	GNAS	1.05
790	Hypereosinophilic syndrome	Enrichment	JAK2	1.05
791	Immunodeficiency 117	Enrichment	IRF1	1.05
792	Ketoacidosis due to monocarboxylate transporter-1 deficiency	Enrichment	SLC16A1	1.05
793	Skeletal muscle disease	Enrichment	KIF5B	1.05
794	Pleomorphic rhabdomyosarcoma	Enrichment	TP53	1.05
795	Continuous spikes and waves during sleep	Enrichment	TUBA1A	1.05
796	Isolated micronodular adrenocortical disease	Enrichment	PDE11A	1.05
797	Wooly hair nevus	Enrichment	HRAS	1.05
798	Multiple system atrophy, cerebellar type	Enrichment	MFN2	1.05
799	Amyotrophic lateral sclerosis 1	Enrichment	SOD1	1.04
800	Marfan syndrome	Enrichment	TGFB2	1.04
801	Tibial muscular dystrophy, tardive	Enrichment	TTN	1.04
802	Myopathy, myofibrillar, 9, with early respiratory failure	Enrichment	TTN	1.04
803	Tibial muscular dystrophy	Enrichment	TTN	1.04
804	Hemolytic uremic syndrome, atypical 1	Enrichment	DGKE	1.03
805	Hemimegalencephaly	Enrichment	PIK3CA	1.03
806	Spastic ataxia	Enrichment	ATP2B3, ITPR1, KIF1A, KIF1C, TUBB3	1.03
807	Strabismus	Enrichment	GNB1, PTPN11	1.02
808	Meningioma, familial	Enrichment	PDGFB	1.00
809	Cardiomyopathy, familial hypertrophic, 9	Enrichment	TTN	1.00
810	Digeorge syndrome	Enrichment	GP1BB, JMJD1C	0.99
811	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	Enrichment	PFN1, SOD1	0.98
812	Hereditary breast ovarian cancer syndrome	Enrichment	BCAR1, KRAS, RAD51B, RAD51C, TP53	0.97
813	Restrictive cardiomyopathy	Enrichment	TTN	0.97
814	Cowden syndrome 1	Enrichment	PIK3CA	0.96
815	Spinocerebellar ataxia, autosomal recessive 16	Enrichment	ITPR1	0.96
816	Familial adult myoclonic epilepsy	Enrichment	ADRA2B	0.96
817	Keratoconus	Enrichment	COL1A1	0.96
818	Myeloma, multiple	Enrichment	H3C1, KRAS, PIK3R2, SH2B3, TP53	0.95
819	Hydrops fetalis, nonimmune	Enrichment	HRAS, KIF19, PTPN11	0.94
820	Auditory neuropathy	Enrichment	KIF5A, MFN2, TUBB4A	0.94
821	Congenital myopathy 5 with cardiomyopathy	Enrichment	TTN	0.93
822	Pulmonary disease, chronic obstructive	Enrichment	SERPINA1	0.93
823	Alzheimer's disease	Enrichment	APP	0.93
824	Aortic valve disease 1	Enrichment	GATA5, SOS1	0.93
825	Diaphragmatic hernia, congenital	Enrichment	GATA6, ZFPM2	0.93
826	Hypercholesterolemia, familial, 1	Enrichment	APOB, DOCK6	0.93
827	Periventricular nodular heterotopia	Enrichment	FLNA	0.90
828	Overgrowth syndrome	Enrichment	PIK3R1	0.89
829	Darier-white disease	Enrichment	ATP2A2	0.88
830	Mccune-albright syndrome	Enrichment	GNAS	0.88
831	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	Enrichment	TUBB1	0.88
832	Hypercholesterolemia, familial, 2	Enrichment	APOB	0.88
833	Lysinuric protein intolerance	Enrichment	SLC7A7	0.88
834	Hyper-ige syndrome 2, autosomal recessive, with recurrent infections	Enrichment	DOCK8	0.88
835	Polycythemia vera	Enrichment	JAK2	0.88
836	Epilepsy, familial temporal lobe, 1	Enrichment	MICAL1	0.88
837	Heart defects, congenital, and other congenital anomalies	Enrichment	GATA6	0.88
838	Paroxysmal nonkinesigenic dyskinesia 3 with or without generalized epilepsy	Enrichment	KCNMA1	0.88
839	Langerhans cell histiocytosis	Enrichment	NRAS	0.88
840	Osteogenic sarcoma	Enrichment	TP53	0.88
841	Neuropathy, hereditary motor and sensory, type via, with optic atrophy	Enrichment	MFN2	0.88
842	Hypercholanemia, familial 1	Enrichment	DOCK6	0.88
843	Peeling skin syndrome 4	Enrichment	SERPINB8	0.88
844	Heparin cofactor ii deficiency	Enrichment	SERPIND1	0.88
845	Leukodystrophy, hypomyelinating, 6	Enrichment	TUBB4A	0.88
846	Nasopharyngeal carcinoma	Enrichment	TP53	0.88
847	Diaphragmatic hernia 3	Enrichment	ZFPM2	0.88
848	Spastic ataxia 2, autosomal recessive	Enrichment	KIF1C	0.88
849	Adams-oliver syndrome 1	Enrichment	DOCK6	0.88
850	Breast-ovarian cancer, familial 3	Enrichment	RAD51C	0.88
851	Fanconi anemia, complementation group o	Enrichment	RAD51C	0.88
852	Oocyte/zygote/embryo maturation arrest 2	Enrichment	TUBB8	0.88
853	Cortical dysplasia, complex, with other brain malformations 5	Enrichment	TUBB2A	0.88
854	Epidermolysis bullosa, junctional 6, with pyloric atresia	Enrichment	ITGA6	0.88
855	Hyper-ige syndrome 3, autosomal recessive, with recurrent infections	Enrichment	DOCK8	0.88
856	Spastic ataxia 2	Enrichment	KIF1C	0.88
857	Breast implant-associated anaplastic large cell lymphoma	Enrichment	JAK2	0.88
858	Atypical teratoid rhabdoid tumor	Enrichment	TP53	0.88
859	Anaplastic astrocytoma	Enrichment	TP53	0.88
860	Hemoglobin e disease	Enrichment	HBB	0.88
861	Squamous cell carcinoma	Enrichment	TP53	0.88
862	T-cell acute lymphoblastic leukemia	Enrichment	ABL1	0.88
863	Adenocarcinoma	Enrichment	TP53	0.88
864	Hereditary site-specific ovarian cancer syndrome	Enrichment	RAD51C	0.88
865	End stage renal disease	Enrichment	GATA3	0.88
866	Bone osteosarcoma	Enrichment	TP53	0.88
867	Intellectual developmental disorder, autosomal dominant 30, with speech delay and behavioral abnormalities	Enrichment	ATP2B1	0.88
868	Muscular atrophy	Enrichment	ATP2B3	0.88
869	Adenoid cystic carcinoma	Enrichment	MYB	0.88
870	Spermatocytoma	Enrichment	HRAS	0.88
871	Sickle cell-hemoglobin c disease	Enrichment	HBB	0.88
872	Hemoglobin d disease	Enrichment	HBB	0.88
873	Unstable hemoglobin disease	Enrichment	HBB	0.88
874	Hyperpigmentation of the skin	Enrichment	MFN2	0.88
875	Hemoglobin e/beta thalassemia disease	Enrichment	HBB	0.88
876	Primary ovarian insufficiency	Enrichment	JAK2, NOS3, RAD51C, SH2B1, THBS1	0.88
877	Lung cancer susceptibility 3	Enrichment	KRAS, TP53	0.88
878	Heart disease	Enrichment	ABL1, GATA4	0.88
879	Wilms tumor 1	Enrichment	IGF2	0.87
880	Genetic steroid-resistant nephrotic syndrome	Enrichment	ACTN4, TRPC6	0.86
881	Wolff-parkinson-white syndrome	Enrichment	TTN	0.85
882	Arrhythmogenic right ventricular cardiomyopathy	Enrichment	ACTN2	0.85
883	Hypothyroidism	Enrichment	GNB1	0.84
884	Differentiated thyroid carcinoma	Enrichment	HRAS, KRAS, NRAS	0.84
885	Familial hypercholesterolemia	Enrichment	APOB, DOCK6	0.83
886	Dandy-walker syndrome	Enrichment	MAGED2	0.82
887	Cardiomyopathy, dilated, 1e	Enrichment	TTN	0.82
888	Beckwith-wiedemann syndrome	Enrichment	IGF2	0.80
889	Neuromuscular disease	Enrichment	TTN	0.80
890	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	Enrichment	RAC1	0.79
891	Rhabdomyosarcoma	Enrichment	HRAS, TP53	0.78
892	Arteriovenous malformations of the brain	Enrichment	TIMP3	0.78
893	Muscular dystrophy, limb-girdle, autosomal recessive 10	Enrichment	TTN	0.78
894	Congenital myopathy	Enrichment	TTN	0.78
895	Parkinson's disease	Enrichment	PSAP	0.78
896	Cardiofaciocutaneous syndrome 1	Enrichment	KRAS	0.77
897	Diffuse gastric and lobular breast cancer syndrome	Enrichment	KRAS	0.77
898	Small cell cancer of the lung	Enrichment	TP53	0.77
899	Cystinuria	Enrichment	SLC7A9	0.77
900	Down syndrome	Enrichment	GATA1	0.77
901	Neuropathy, hereditary sensory and autonomic, type iia	Enrichment	KIF1A	0.77
902	Thyroid cancer, nonmedullary, 1	Enrichment	TP53	0.77
903	Pseudohypoparathyroidism, type ib	Enrichment	GNAS	0.77
904	Potocki-shaffer syndrome	Enrichment	PHF21A	0.77
905	Glaucoma 3, primary infantile, b	Enrichment	TEK	0.77
906	Sickle cell disease	Enrichment	HBB	0.77
907	Retinitis pigmentosa 26	Enrichment	ITGA4	0.77
908	Beta-thalassemia, dominant inclusion body type	Enrichment	HBB	0.77
909	Myopathy, autophagic vacuolar, infantile-onset	Enrichment	STIM1	0.77
910	Arrhythmogenic right ventricular dysplasia, familial, 10	Enrichment	PRKAR1A	0.77
911	Peeling skin syndrome 3	Enrichment	SERPINB8	0.77
912	Aminoacylase 1 deficiency	Enrichment	ACTB	0.77
913	Fetal akinesia deformation sequence 3	Enrichment	DOCK7	0.77
914	Erythrocytosis, familial, 6	Enrichment	HBB	0.77
915	Hereditary sensory and autonomic neuropathy type 2	Enrichment	KIF1A	0.77
916	Beta-thalassemia intermedia	Enrichment	HBB	0.77
917	Cardiofaciocutaneous syndrome	Enrichment	KRAS	0.77
918	Hemoglobinopathy	Enrichment	HBB	0.77
919	Embryonal rhabdomyosarcoma	Enrichment	TP53	0.77
920	Pilocytic astrocytoma	Enrichment	KRAS	0.77
921	Hereditary elliptocytosis	Enrichment	GYPC	0.77
922	Epidermolytic nevus	Enrichment	HRAS	0.77
923	Idiopathic achalasia	Enrichment	NOS1	0.77
924	Hemoglobin c disease	Enrichment	HBB	0.77
925	Transposition of the great arteries	Enrichment	GATA4	0.77
926	Systemic-onset juvenile idiopathic arthritis	Enrichment	MIF	0.77
927	Methemoglobinemia, beta-globin type	Enrichment	HBB	0.77
928	Middle aortic syndrome	Enrichment	GATA6	0.77
929	Cardiomyopathy, dilated, 1a	Enrichment	TTN	0.74
930	Autosomal recessive limb-girdle muscular dystrophy type 2j	Enrichment	TTN	0.74
931	Centronuclear myopathy	Enrichment	TTN	0.74
932	Mitochondrial complex iv deficiency, nuclear type 1	Enrichment	STXBP2	0.72
933	Cardiomyopathy, dilated, 1g	Enrichment	TTN	0.72
934	Visceral heterotaxy	Enrichment	LEFTY2	0.72
935	Pectus excavatum	Enrichment	PTPN11	0.71
936	Immune deficiency disease	Enrichment	SYK	0.71
937	Leukemia, acute lymphoblastic	Enrichment	GNB1	0.71
938	Autosomal dominant non-syndromic intellectual disability	Enrichment	DOCK8, GNB1, KIF1A, YWHAZ	0.71
939	Heart, malformation of	Enrichment	GATA4, MAPK1	0.70
940	Parkinson disease, late-onset	Enrichment	PSAP	0.69
941	Autoinflammatory disease	Enrichment	STXBP2	0.69
942	Muscular dystrophy	Enrichment	TTN	0.69
943	Epicanthus	Enrichment	PTPN11	0.68
944	Hyperlipidemia, familial combined, 3	Enrichment	APOB	0.68
945	Multiple endocrine neoplasia, type iia	Enrichment	KIF1B	0.68
946	Microcephaly 1, primary, autosomal recessive	Enrichment	ANGPT2	0.68
947	Kearns-sayre syndrome	Enrichment	KIF5B	0.68
948	Rhabdomyosarcoma 2	Enrichment	TP53	0.68
949	Convulsions, familial infantile, with paroxysmal choreoathetosis	Enrichment	PDE2A	0.68
950	Rheumatoid arthritis, systemic juvenile	Enrichment	MIF	0.68
951	Ventricular septal defect 1	Enrichment	GATA4	0.68
952	Muscular dystrophy, limb-girdle, autosomal recessive 23	Enrichment	L1CAM	0.68
953	Pre-eclampsia	Enrichment	NOS3	0.68
954	Thalassemia	Enrichment	HBB	0.68
955	Myeloproliferative neoplasm	Enrichment	JAK2	0.68
956	Epidermolysis bullosa	Enrichment	ITGA6	0.68
957	Female infertility due to oocyte meiotic arrest	Enrichment	TUBB8	0.68
958	Genetic motor neuron disease	Enrichment	MFN2	0.68
959	Diffuse cutaneous systemic sclerosis	Enrichment	CAV1	0.68
960	Persistent truncus arteriosus	Enrichment	GATA6	0.68
961	Nk-cell enteropathy	Enrichment	PIK3CB	0.65
962	Fetal akinesia deformation sequence 1	Enrichment	ATP2B3, KIF21A, TUBA1A	0.62
963	Hyperaldosteronism, familial, type i	Enrichment	HBD	0.61
964	Li-fraumeni syndrome	Enrichment	TP53	0.61
965	Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1	Enrichment	TUBB2B	0.61
966	Pierre robin syndrome	Enrichment	ATP2B1	0.61
967	Moyamoya disease 1	Enrichment	GUCY1A1	0.61
968	Epidermolysis bullosa, junctional 5b, with pyloric atresia	Enrichment	ITGA6	0.61
969	Deafness, autosomal recessive 12	Enrichment	ATP2B2	0.61
970	Granulomatosis with polyangiitis	Enrichment	PRTN3	0.61
971	Methemoglobinemia, beta type	Enrichment	HBB	0.61
972	Early myoclonic encephalopathy	Enrichment	TUBA1A	0.61
973	Double outlet right ventricle	Enrichment	ZFPM2	0.61
974	Limited scleroderma	Enrichment	CAV1	0.61
975	Autosomal dominant secondary polycythemia	Enrichment	HBB	0.61
976	Multicystic kidney dysplasia	Enrichment	KIF4A	0.61
977	Syndromic rod-cone dystrophy	Enrichment	KIF11	0.61
978	Multicystic dysplastic kidney	Enrichment	KIF4A	0.61
979	Atypical hemolytic uremic syndrome with complement gene abnormality	Enrichment	THBD	0.61
980	Endometrial cancer	Enrichment	PIK3CA, RAD51C	0.60
981	Anterior segment dysgenesis	Enrichment	ITPR1	0.60
982	Hypertelorism	Enrichment	COL1A1, PIK3CA	0.58
983	Hepatocellular carcinoma	Enrichment	PIK3CA, TP53	0.57
984	Esophageal cancer	Enrichment	TP53	0.55
985	Glaucoma 3, primary congenital, a	Enrichment	TEK	0.55
986	Squamous cell carcinoma, head and neck	Enrichment	TP53	0.55
987	Beta-thalassemia	Enrichment	HBB	0.55
988	Brachydactyly	Enrichment	GNAS	0.55
989	Adams-oliver syndrome	Enrichment	DOCK6	0.55
990	Beta-thalassemia major	Enrichment	HBB	0.55
991	Megacolon	Enrichment	SLC8A1	0.55
992	Hemolytic anemia	Enrichment	HBB	0.55
993	Paroxysmal dystonia	Enrichment	PDE2A	0.55
994	Familial isolated restrictive cardiomyopathy	Enrichment	KIF20A	0.55
995	Moyamoya angiopathy	Enrichment	ABL1	0.55
996	Diamond-blackfan anemia 1	Enrichment	GATA1, TP53	0.55
997	Precursor t-cell acute lymphoblastic leukemia	Enrichment	ABL1, MYB	0.55
998	Hereditary spastic paraplegia	Enrichment	KIF1A, KIF1C, KIF5A	0.52
999	Heinz body anemias	Enrichment	HBB	0.50
1000	Lymphoma, non-hodgkin, familial	Enrichment	TP53	0.50
1001	Severe congenital neutropenia	Enrichment	VPS45	0.50
1002	Cryptorchidism	Enrichment	TUBA1A	0.50
1003	Heinz body anemia	Enrichment	HBB	0.50
1004	Neuroblastoma	Enrichment	KIF1B	0.50
1005	Choreatic disease	Enrichment	PDE2A	0.50
1006	Homozygous familial hypercholesterolemia	Enrichment	APOB	0.50
1007	Male infertility due to globozoospermia	Enrichment	PICK1	0.50
1008	Ovarian cancer	Enrichment	AKT1, KIF1B, KRAS, PIK3CA, RAD51C, TP53	0.50
1009	Myopathy	Enrichment	TTN	0.50
1010	Pancreatic cancer	Enrichment	KRAS, TP53	0.50
1011	Focal segmental glomerulosclerosis	Enrichment	TRPC6	0.49
1012	Rheumatoid arthritis	Enrichment	CD244	0.46
1013	Cryptorchidism, unilateral or bilateral	Enrichment	TUBA1A	0.46
1014	Alpha-thalassemia	Enrichment	HBB	0.46
1015	Coronary heart disease 5	Enrichment	APOB	0.46
1016	Leukemia, acute lymphoblastic 3	Enrichment	JAK2	0.46
1017	Junctional epidermolysis bullosa	Enrichment	ITGA6	0.46
1018	Ventricular septal defect	Enrichment	TEK	0.46
1019	Colonic benign neoplasm	Enrichment	EPCAM	0.46
1020	Hydrops fetalis	Enrichment	L1CAM	0.46
1021	Cardiomyopathy, familial hypertrophic, 1	Enrichment	RAF1	0.43
1022	Cone dystrophy	Enrichment	ABHD12	0.43
1023	Scoliosis	Enrichment	PTPN11	0.43
1024	Lynch syndrome 1	Enrichment	EPCAM	0.43
1025	Familial colorectal cancer	Enrichment	TP53	0.43
1026	Prostate cancer	Enrichment	PIK3CA, TP53	0.41
1027	Inherited cancer-predisposing syndrome	Enrichment	EPCAM, PRKAR1A, PTPN11, RAD51B, RAD51C, SH2B3, TP53	0.40
1028	Bilirubin metabolic disorder	Enrichment	F12	0.39
1029	Uterine corpus cancer	Enrichment	RAD51C	0.39
1030	Heritable pulmonary arterial hypertension	Enrichment	CAV1	0.39
1031	Congenital hypothyroidism	Enrichment	TUBB1	0.37
1032	Primary autosomal recessive microcephaly	Enrichment	ANGPT2, CENPE	0.36
1033	Peripheral nervous system disease	Enrichment	KIF5A, MFN2	0.36
1034	Neuropathy	Enrichment	KIF5A, MFN2	0.36
1035	Severe combined immunodeficiency	Enrichment	DOCK8, LCK	0.35
1036	Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly	Enrichment	ATP2B1	0.34
1037	Neural tube defects	Enrichment	ITGB1	0.34
1038	Breast-ovarian cancer, familial 1	Enrichment	RAD51C	0.34
1039	Acute promyelocytic leukemia	Enrichment	PRKAR1A	0.34
1040	Clubfoot	Enrichment	ATP2B1	0.34
1041	Aortic aneurysm, familial thoracic 1	Enrichment	GATA4	0.32
1042	Seckel syndrome	Enrichment	CENPE	0.32
1043	Cataract	Enrichment	SLC7A8	0.32
1044	Isolated macular dystrophy	Enrichment	ITGA4	0.32
1045	Dystonia	Enrichment	GNB1	0.31
1046	Diamond-blackfan anemia	Enrichment	GATA1, TP53	0.30
1047	Corpus callosum, agenesis of	Enrichment	TUBA1A	0.30
1048	Hydrocephalus	Enrichment	KIF4A	0.30
1049	Isolated corpus callosum agenesis	Enrichment	TUBA1A	0.30
1050	Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome	Enrichment	TUBA1A	0.30
1051	Hereditary retinal dystrophy	Enrichment	CD63, SPP2, TIMP3	0.28
1052	Fundus dystrophy	Enrichment	CD63, SPP2, TIMP3	0.28
1053	Hydrocephalus, congenital, 1	Enrichment	KIF4A	0.28
1054	Hypertension	Enrichment	F12	0.28
1055	Gliosarcoma	Enrichment	TP53	0.28
1056	Isolated congenital microcephaly	Enrichment	TUBA3E	0.28
1057	Syndromic intellectual disability	Enrichment	KIF1A	0.26
1058	Giant cell glioblastoma	Enrichment	TP53	0.26
1059	Type 2 diabetes mellitus	Enrichment	PTPN1	0.25
1060	Rare autosomal recessive non-syndromic sensorineural deafness type dfnb	Enrichment	HGF	0.24
1061	Diffuse large b-cell lymphoma	Enrichment	TP53	0.23
1062	Autism spectrum disorder	Enrichment	GNB1, PTPN11	0.20
1063	Hepatoblastoma	Enrichment	TP53	0.20
1064	Hereditary paraganglioma-pheochromocytoma syndromes	Enrichment	KIF1B	0.20
1065	Male infertility with azoospermia or oligozoospermia due to single gene mutation	Enrichment	PTPN11	0.18
1066	Body mass index quantitative trait locus 11	Enrichment	GNAS, SDC3	0.17
1067	Rare autosomal dominant non-syndromic sensorineural deafness type dfna	Enrichment	ATP2B2, P2RX2	0.16
1068	Cakut	Enrichment	GATA3	0.10
1069	Fanconi anemia, complementation group a	Enrichment	RAD51C	0.09
1070	Non-syndromic x-linked intellectual disability	Enrichment	TSPAN7	0.09
1071	Complex neurodevelopmental disorder	Enrichment	ATP2B1, DOCK3, GNB2, PPP2CA	0.08
1072	Systemic lupus erythematosus	Enrichment	ITGAM	0.08
1073	Autism	Enrichment	ATP2B1, DOCK4	0.07
1074	Charcot-marie-tooth disease	Enrichment	MFN2	0.07
1075	Distal arthrogryposis	Enrichment	ATP2B3	0.07
1076	Congenital nervous system abnormality	Enrichment	GNB5, TUBA1A, TUBB4A	0.06
1077	Nervous system disease	Enrichment	GNB5, TUBA1A, TUBB4A	0.06
1078	Optic atrophy plus syndrome	Enrichment	TUBB6	0.06
1079	West syndrome	Enrichment	TUBA1A	0.06
1080	Joubert syndrome 1	Enrichment	RCOR1	0.04
1081	Schizophrenia	Enrichment	PDE11A	0.03
1082	Cone-rod dystrophy 2	Enrichment	ITGA4	0.02
1083	Primary ciliary dyskinesia	Enrichment	PRKAR1B	0.01
1084	Mitochondrial disease	Enrichment	C1QBP	0.01
1085	Leber plus disease	Enrichment	TUBB4B	0.01
1086	Retinitis pigmentosa	Enrichment	KIF11, MERTK	0.00

¹ WikiPathways

² PubChem

³ R&D Systems

⁴ Reactome

⁵ GeneGo (Thomson Reuters)

⁶ QIAGEN

⁷ PharmGKB

⁸ Cell Signaling Technology

⁹ Sino Biological

¹⁰ Tocris

¹¹ MalaCards

Response to elevated platelet cytosolic Ca2+

Pathway Network for Response to elevated platelet cytosolic Ca2+

Pathway network for the Response to elevated platelet cytosolic Ca2+ SuperPath

Member Pathways for Response to elevated platelet cytosolic Ca2+

Pathways in the Response to elevated platelet cytosolic Ca2+ SuperPath

Gene overlap in member pathways for Response to elevated platelet cytosolic Ca2+ SuperPath

Associated Genes for Response to elevated platelet cytosolic Ca2+

Associated Disorders for Response to elevated platelet cytosolic Ca2+

Disorders associated with Response to elevated platelet cytosolic Ca2+ SuperPath

STRING Interaction Network for Response to elevated platelet cytosolic Ca2+

Sources for Response to elevated platelet cytosolic Ca2+