NFAT and Cardiac Hypertrophy

Pathway network for the NFAT and Cardiac Hypertrophy SuperPath

Sources:

QIAGEN

Pathways in the NFAT and Cardiac Hypertrophy SuperPath

#	Name	Source	Genes
1	NFAT and Cardiac Hypertrophy	QIAGEN	ADCY1 ADCY2 ADCY3 AGT AKAP5 AKT1 CABIN1 CACNA1A CACNA1B CACNA1C CACNA1D CACNA1E CACNA1F CACNA1G CACNA1H CACNA1I CACNA1S CACNA2D1 CACNA2D2 CACNA2D3 CACNA2D4 CACNB1 CACNB2 CACNB3 CACNB4 CACNG1 CACNG2 CACNG3 CACNG4 CACNG5 CACNG6 CACNG7 CACNG8 CALM1 CALM2 CALM3 CAMK1 CAMK1G CAMK2A CAMK2B CAMK2D CAMK2G CAMK4 CREBBP CSNK1A1 CTF1 EDN1 ELSPBP1 EP300 GATA4 GNA11 GNAI1 GNAI2 GNAI3 GNAS GPR119 GSK3B HAND1 HAND2 HDAC1 HDAC10 HDAC11 HDAC2 HDAC3 HDAC5 HDAC6 HDAC7 HDAC8 HDAC9 HRAS IGF1 IGF1R IL11 IL6 IL6ST ITPR1 ITPR2 ITPR3 KRAS LIF MAP2K1 MAP2K2 MAP2K3 MAP2K4 MAP2K5 MAP2K6 MAP2K7 MAP3K1 MAP3K10 MAP3K11 MAP3K12 MAP3K13 MAP3K14 MAP3K2 MAP3K3 MAP3K4 MAP3K5 MAP3K6 MAP3K7 MAP3K8 MAP3K9 MAPK1 MAPK10 MAPK11 MAPK12 MAPK13 MAPK14 MAPK3 MAPK4 MAPK6 MAPK7 MAPK8 MAPK9 MEF2A MEF2C MEF2D MRAS NFATC4 NKX2-5 NRAS P2RY13 PIK3R1 PIK3R2 PIK3R3 PIK3R4 PIK3R5 PLCB1 PLCB2 PLCB3 PLCB4 PLCD1 PLCD3 PLCD4 PLCE1 PLCG1 PLCG2 PLCZ1 PPP3CA PPP3CB PPP3CC PPP3R1 PPP3R2 PRKACA PRKACB PRKACG PRKAR1A PRKAR1B PRKAR2A PRKAR2B PRKCA PRKCB PRKCD PRKCE PRKCG PRKCH PRKCI PRKCQ PRKCZ PRKD1 PRKD3 RAF1 RCAN1 RCAN2 RCAN3 RRAS RRAS2 SOS1 SOS2 SRC (see all 169) (see less)
2	Signaling Involved in Cardiac Hypertrophy	QIAGEN	ACTA1 ACTA2 ACTB ACTG1 ACTG2 ADCY1 ADCY2 ADCY3 ADRA1A ADRA1B ADRA2A ADRA2B ADRB1 ADRB2 AGTR2 AKT1 ARAF ATF2 ATF4 ATF6 BRAF CACNA1A CACNA1B CACNA1C CACNA1D CACNA1E CACNA1F CACNA1G CACNA1H CACNA1I CACNA1S CACNA2D1 CACNA2D2 CACNA2D3 CACNA2D4 CACNB1 CACNB2 CACNB3 CACNB4 CACNG1 CACNG2 CACNG3 CACNG4 CACNG5 CACNG6 CACNG7 CACNG8 CALM1 CALM2 CALM3 CREB1 CREB3 CREB3L4 CREBBP CTF1 DIRAS3 EDNRA EGFR EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 EIF4E ELK1 ELSPBP1 EP300 EPOR ERBB2 ERBB3 ERBB4 FGFR1 FGFR2 FGFR3 FGFR4 GATA4 GNA11 GNA12 GNA13 GNA14 GNA15 GNAI1 GNAI2 GNAI3 GNAL GNAS GNB1 GNB2 GNB3 GNB4 GNB5 GNG2 GNG3 GNG4 GRB2 GSK3B HAND1 HAND2 HRAS HSPB1 IGF1 IGF1R IL11 IL6 IL6ST INSR IRS1 ITGA1 ITGA10 ITGA11 ITGA2 ITGA2B ITGA3 ITGA4 ITGA5 ITGA6 ITGA7 ITGA8 ITGA9 ITGAD ITGAE ITGAL ITGAM ITGAV ITGAX ITGB1 ITGB2 ITGB3 ITGB4 ITGB5 ITGB6 ITGB7 ITGB8 JAK1 JAK2 JAK3 JUN KRAS LEFTY2 LIF LIFR MAP2K1 MAP2K2 MAP2K3 MAP2K4 MAP2K6 MAP2K7 MAP3K2 MAP3K3 MAP3K4 MAP3K5 MAP3K7 MAPK1 MAPK10 MAPK14 MAPK3 MAPK8 MAPK9 MAPKAPK2 MAPKAPK3 MEF2A MEF2C MEF2D MRAS MTOR MYLK NFATC4 NKX2-5 NRAS NTRK1 NTRK2 NTRK3 PDGFRA PDGFRB PIK3R1 PIK3R2 PIK3R3 PIK3R4 PIK3R5 PLCB1 PLCB2 PLCB3 PLCB4 PLCD1 PLCD3 PLCD4 PLCE1 PLCG1 PLCG2 PLCZ1 PPP3CA PPP3CB PPP3CC PPP3R1 PPP3R2 PRKACA PRKACB PRKACG PRKAR1A PRKAR1B PRKAR2A PRKAR2B PRKCA PRKCB PRKCD PRKCE PRKCG PRKCH PRKCI PRKCQ PRKCZ PRKD1 PRKD3 PTK2 PTK2B RAC1 RAC2 RAC3 RAF1 RHOA RHOB RHOC RHOD RHOG RHOH RND2 RND3 ROCK1 ROCK2 RPS6KA1 RPS6KB1 RRAS RRAS2 SOS1 SOS2 SRF STAT3 TAB1 TGFB1 TGFB2 TGFB3 TGFBR1 TGFBR2 TGFBR3 (see all 244) (see less)
3	IGF1R Signaling	QIAGEN	AKT1 AKT2 AKT3 ARAF ATF4 BAD BRAF CACNA1A CACNA1B CACNA1C CACNA1D CACNA1E CACNA1F CACNA1G CACNA1H CACNA1I CACNA1S CACNA2D1 CACNA2D2 CACNA2D3 CACNA2D4 CACNB1 CACNB2 CACNB3 CACNB4 CACNG1 CACNG2 CACNG3 CACNG4 CACNG5 CACNG6 CACNG7 CACNG8 CALM1 CALM2 CALM3 CAMK1 CAMK1G CAMK2A CAMK2B CAMK2D CAMK2G CAMK4 CASP9 CHUK CREB1 CREB3 CREB3L4 CRK EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 EIF4E ELK1 FOXO3 GRB2 GSK3B GYS1 GYS2 HRAS IGF1 IGF1R IGF2 IKBKB IKBKE IKBKG IRS1 IRS2 IRS4 ITPR1 ITPR2 ITPR3 KRAS MAP2K1 MAP2K2 MAPK1 MAPK3 MEF2A MEF2C MEF2D MRAS MTOR NFAT5 NFATC1 NFATC2 NFATC3 NFATC4 NFKB1 NFKBIA NFKBIB NFKBIE NRAS PDPK1 PIK3R1 PIK3R2 PIK3R3 PIK3R4 PIK3R5 PLCB1 PLCB2 PLCB3 PLCB4 PLCD1 PLCD3 PLCD4 PLCE1 PLCG1 PLCG2 PLCZ1 PPP3CA PPP3CB PPP3CC PPP3R1 PPP3R2 PRKCI PRKCZ PTEN RAF1 RAPGEF1 RPS6 RPS6KB1 RRAS RRAS2 SLC2A4 SOS1 SOS2 YWHAB YWHAE YWHAG YWHAH YWHAQ YWHAZ (see all 134) (see less)

Gene overlap in member pathways for NFAT and Cardiac Hypertrophy SuperPath

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

#	Symbol	Description	Category	# Related Pathways
1	AKT1	AKT Serine/Threonine Kinase 1	Protein Coding	3
2	CACNA1A	Calcium Voltage-Gated Channel Subunit Alpha1 A	Protein Coding	3
3	CACNA1B	Calcium Voltage-Gated Channel Subunit Alpha1 B	Protein Coding	3
4	CACNA1C	Calcium Voltage-Gated Channel Subunit Alpha1 C	Protein Coding	3
5	CACNA1D	Calcium Voltage-Gated Channel Subunit Alpha1 D	Protein Coding	3
6	CACNA1E	Calcium Voltage-Gated Channel Subunit Alpha1 E	Protein Coding	3
7	CACNA1F	Calcium Voltage-Gated Channel Subunit Alpha1 F	Protein Coding	3
8	CACNA1G	Calcium Voltage-Gated Channel Subunit Alpha1 G	Protein Coding	3
9	CACNA1H	Calcium Voltage-Gated Channel Subunit Alpha1 H	Protein Coding	3
10	CACNA1I	Calcium Voltage-Gated Channel Subunit Alpha1 I	Protein Coding	3
11	CACNA1S	Calcium Voltage-Gated Channel Subunit Alpha1 S	Protein Coding	3
12	CACNA2D1	Calcium Voltage-Gated Channel Auxiliary Subunit Alpha2delta 1	Protein Coding	3
13	CACNA2D2	Calcium Voltage-Gated Channel Auxiliary Subunit Alpha2delta 2	Protein Coding	3
14	CACNA2D3	Calcium Voltage-Gated Channel Auxiliary Subunit Alpha2delta 3	Protein Coding	3
15	CACNA2D4	Calcium Voltage-Gated Channel Auxiliary Subunit Alpha2delta 4	Protein Coding	3
16	CACNB1	Calcium Voltage-Gated Channel Auxiliary Subunit Beta 1	Protein Coding	3
17	CACNB2	Calcium Voltage-Gated Channel Auxiliary Subunit Beta 2	Protein Coding	3
18	CACNB3	Calcium Voltage-Gated Channel Auxiliary Subunit Beta 3	Protein Coding	3
19	CACNB4	Calcium Voltage-Gated Channel Auxiliary Subunit Beta 4	Protein Coding	3
20	CACNG1	Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 1	Protein Coding	3
21	CACNG2	Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 2	Protein Coding	3
22	CACNG3	Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 3	Protein Coding	3
23	CACNG4	Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 4	Protein Coding	3
24	CACNG5	Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 5	Protein Coding	3
25	CACNG6	Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 6	Protein Coding	3
26	CACNG7	Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 7	Protein Coding	3
27	CACNG8	Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 8	Protein Coding	3
28	CALM1	Calmodulin 1	Protein Coding	3
29	CALM2	Calmodulin 2	Protein Coding	3
30	CALM3	Calmodulin 3	Protein Coding	3
31	GSK3B	Glycogen Synthase Kinase 3 Beta	Protein Coding	3
32	HRAS	HRas Proto-Oncogene, GTPase	Protein Coding	3
33	IGF1	Insulin Like Growth Factor 1	Protein Coding	3
34	IGF1R	Insulin Like Growth Factor 1 Receptor	Protein Coding	3
35	KRAS	KRAS Proto-Oncogene, GTPase	Protein Coding	3
36	MAP2K1	Mitogen-Activated Protein Kinase Kinase 1	Protein Coding	3
37	MAP2K2	Mitogen-Activated Protein Kinase Kinase 2	Protein Coding	3
38	MAPK1	Mitogen-Activated Protein Kinase 1	Protein Coding	3
39	MAPK3	Mitogen-Activated Protein Kinase 3	Protein Coding	3
40	MEF2A	Myocyte Enhancer Factor 2A	Protein Coding	3
41	MEF2C	Myocyte Enhancer Factor 2C	Protein Coding	3
42	MEF2D	Myocyte Enhancer Factor 2D	Protein Coding	3
43	MRAS	Muscle RAS Oncogene Homolog	Protein Coding	3
44	NFATC4	Nuclear Factor Of Activated T Cells 4	Protein Coding	3
45	NRAS	NRAS Proto-Oncogene, GTPase	Protein Coding	3
46	PIK3R5	Phosphoinositide-3-Kinase Regulatory Subunit 5	Protein Coding	3
47	PIK3R1	Phosphoinositide-3-Kinase Regulatory Subunit 1	Protein Coding	3
48	PIK3R2	Phosphoinositide-3-Kinase Regulatory Subunit 2	Protein Coding	3
49	PIK3R3	Phosphoinositide-3-Kinase Regulatory Subunit 3	Protein Coding	3
50	PIK3R4	Phosphoinositide-3-Kinase Regulatory Subunit 4	Protein Coding	3
51	PLCB1	Phospholipase C Beta 1	Protein Coding	3
52	PLCB2	Phospholipase C Beta 2	Protein Coding	3
53	PLCB3	Phospholipase C Beta 3	Protein Coding	3
54	PLCB4	Phospholipase C Beta 4	Protein Coding	3
55	PLCD1	Phospholipase C Delta 1	Protein Coding	3
56	PLCD3	Phospholipase C Delta 3	Protein Coding	3
57	PLCD4	Phospholipase C Delta 4	Protein Coding	3
58	PLCE1	Phospholipase C Epsilon 1	Protein Coding	3
59	PLCG1	Phospholipase C Gamma 1	Protein Coding	3
60	PLCG2	Phospholipase C Gamma 2	Protein Coding	3
61	PLCZ1	Phospholipase C Zeta 1	Protein Coding	3
62	PPP3CA	Protein Phosphatase 3 Catalytic Subunit Alpha	Protein Coding	3
63	PPP3CB	Protein Phosphatase 3 Catalytic Subunit Beta	Protein Coding	3
64	PPP3CC	Protein Phosphatase 3 Catalytic Subunit Gamma	Protein Coding	3
65	PPP3R1	Protein Phosphatase 3 Regulatory Subunit B, Alpha	Protein Coding	3
66	PPP3R2	Protein Phosphatase 3 Regulatory Subunit B, Beta	Protein Coding	3
67	PRKCI	Protein Kinase C Iota	Protein Coding	3
68	PRKCZ	Protein Kinase C Zeta	Protein Coding	3
69	RAF1	Raf-1 Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	3
70	RRAS	RAS Related	Protein Coding	3
71	RRAS2	RAS Related 2	Protein Coding	3
72	SOS1	SOS Ras/Rac Guanine Nucleotide Exchange Factor 1	Protein Coding	3
73	SOS2	SOS Ras/Rho Guanine Nucleotide Exchange Factor 2	Protein Coding	3
74	ADCY1	Adenylate Cyclase 1	Protein Coding	2
75	ADCY2	Adenylate Cyclase 2	Protein Coding	2
76	ADCY3	Adenylate Cyclase 3	Protein Coding	2
77	CAMK1	Calcium/Calmodulin Dependent Protein Kinase I	Protein Coding	2
78	CAMK1G	Calcium/Calmodulin Dependent Protein Kinase IG	Protein Coding	2
79	CAMK2A	Calcium/Calmodulin Dependent Protein Kinase II Alpha	Protein Coding	2
80	CAMK2B	Calcium/Calmodulin Dependent Protein Kinase II Beta	Protein Coding	2
81	CAMK2D	Calcium/Calmodulin Dependent Protein Kinase II Delta	Protein Coding	2
82	CAMK2G	Calcium/Calmodulin Dependent Protein Kinase II Gamma	Protein Coding	2
83	CAMK4	Calcium/Calmodulin Dependent Protein Kinase IV	Protein Coding	2
84	CREBBP	CREB Binding Lysine Acetyltransferase	Protein Coding	2
85	CTF1	Cardiotrophin 1	Protein Coding	2
86	ELSPBP1	Epididymal Sperm Binding Protein 1	Protein Coding	2
87	EP300	EP300 Lysine Acetyltransferase	Protein Coding	2
88	GATA4	GATA Binding Protein 4	Protein Coding	2
89	GNA11	G Protein Subunit Alpha 11	Protein Coding	2
90	GNAI1	G Protein Subunit Alpha I1	Protein Coding	2
91	GNAI2	G Protein Subunit Alpha I2	Protein Coding	2
92	GNAI3	G Protein Subunit Alpha I3	Protein Coding	2
93	GNAS	GNAS Complex Locus	Protein Coding	2
94	HAND1	Heart And Neural Crest Derivatives Expressed 1	Protein Coding	2
95	HAND2	Heart And Neural Crest Derivatives Expressed 2	Protein Coding	2
96	IL11	Interleukin 11	Protein Coding	2
97	IL6	Interleukin 6	Protein Coding	2
98	IL6ST	Interleukin 6 Cytokine Family Signal Transducer	Protein Coding	2
99	ITPR1	Inositol 1,4,5-Trisphosphate Receptor Type 1	Protein Coding	2
100	ITPR2	Inositol 1,4,5-Trisphosphate Receptor Type 2	Protein Coding	2
101	ITPR3	Inositol 1,4,5-Trisphosphate Receptor Type 3	Protein Coding	2
102	LIF	LIF Interleukin 6 Family Cytokine	Protein Coding	2
103	MAP2K3	Mitogen-Activated Protein Kinase Kinase 3	Protein Coding	2
104	MAP2K4	Mitogen-Activated Protein Kinase Kinase 4	Protein Coding	2
105	MAP2K6	Mitogen-Activated Protein Kinase Kinase 6	Protein Coding	2
106	MAP2K7	Mitogen-Activated Protein Kinase Kinase 7	Protein Coding	2
107	MAP3K2	Mitogen-Activated Protein Kinase Kinase Kinase 2	Protein Coding	2
108	MAP3K3	Mitogen-Activated Protein Kinase Kinase Kinase 3	Protein Coding	2
109	MAP3K4	Mitogen-Activated Protein Kinase Kinase Kinase 4	Protein Coding	2
110	MAP3K5	Mitogen-Activated Protein Kinase Kinase Kinase 5	Protein Coding	2
111	MAP3K7	Mitogen-Activated Protein Kinase Kinase Kinase 7	Protein Coding	2
112	MAPK10	Mitogen-Activated Protein Kinase 10	Protein Coding	2
113	MAPK14	Mitogen-Activated Protein Kinase 14	Protein Coding	2
114	MAPK8	Mitogen-Activated Protein Kinase 8	Protein Coding	2
115	MAPK9	Mitogen-Activated Protein Kinase 9	Protein Coding	2
116	NKX2-5	NK2 Homeobox 5	Protein Coding	2
117	PRKACA	Protein Kinase CAMP-Activated Catalytic Subunit Alpha	Protein Coding	2
118	PRKACB	Protein Kinase CAMP-Activated Catalytic Subunit Beta	Protein Coding	2
119	PRKACG	Protein Kinase CAMP-Activated Catalytic Subunit Gamma	Protein Coding	2
120	PRKAR1A	Protein Kinase CAMP-Dependent Type I Regulatory Subunit Alpha	Protein Coding	2
121	PRKAR1B	Protein Kinase CAMP-Dependent Type I Regulatory Subunit Beta	Protein Coding	2
122	PRKAR2A	Protein Kinase CAMP-Dependent Type II Regulatory Subunit Alpha	Protein Coding	2
123	PRKAR2B	Protein Kinase CAMP-Dependent Type II Regulatory Subunit Beta	Protein Coding	2
124	PRKCA	Protein Kinase C Alpha	Protein Coding	2
125	PRKCB	Protein Kinase C Beta	Protein Coding	2
126	PRKCD	Protein Kinase C Delta	Protein Coding	2
127	PRKCE	Protein Kinase C Epsilon	Protein Coding	2
128	PRKCG	Protein Kinase C Gamma	Protein Coding	2
129	PRKCH	Protein Kinase C Eta	Protein Coding	2
130	PRKD1	Protein Kinase D1	Protein Coding	2
131	PRKD3	Protein Kinase D3	Protein Coding	2
132	PRKCQ	Protein Kinase C Theta	Protein Coding	2
133	ARAF	A-Raf Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	2
134	ATF4	Activating Transcription Factor 4	Protein Coding	2
135	BRAF	B-Raf Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	2
136	CREB1	CAMP Responsive Element Binding Protein 1	Protein Coding	2
137	CREB3	CAMP Responsive Element Binding Protein 3	Protein Coding	2
138	CREB3L4	CAMP Responsive Element Binding Protein 3 Like 4	Protein Coding	2
139	EIF2B1	Eukaryotic Translation Initiation Factor 2B Subunit Alpha	Protein Coding	2
140	EIF2B2	Eukaryotic Translation Initiation Factor 2B Subunit Beta	Protein Coding	2
141	EIF2B3	Eukaryotic Translation Initiation Factor 2B Subunit Gamma	Protein Coding	2
142	EIF2B4	Eukaryotic Translation Initiation Factor 2B Subunit Delta	Protein Coding	2
143	EIF2B5	Eukaryotic Translation Initiation Factor 2B Subunit Epsilon	Protein Coding	2
144	EIF4E	Eukaryotic Translation Initiation Factor 4E	Protein Coding	2
145	ELK1	ETS Transcription Factor ELK1	Protein Coding	2
146	MTOR	Mechanistic Target Of Rapamycin Kinase	Protein Coding	2
147	GRB2	Growth Factor Receptor Bound Protein 2	Protein Coding	2
148	IRS1	Insulin Receptor Substrate 1	Protein Coding	2
149	RPS6KB1	Ribosomal Protein S6 Kinase B1	Protein Coding	2
150	AGT	Angiotensinogen	Protein Coding	1
151	AKAP5	A-Kinase Anchoring Protein 5	Protein Coding	1
152	CABIN1	Calcineurin Binding Protein 1	Protein Coding	1
153	CSNK1A1	Casein Kinase 1 Alpha 1	Protein Coding	1
154	RCAN1	Regulator Of Calcineurin 1	Protein Coding	1
155	RCAN2	Regulator Of Calcineurin 2	Protein Coding	1
156	RCAN3	RCAN Family Member 3	Protein Coding	1
157	EDN1	Endothelin 1	Protein Coding	1
158	GPR119	G Protein-Coupled Receptor 119	Protein Coding	1
159	P2RY13	Purinergic Receptor P2Y13	Protein Coding	1
160	HDAC1	Histone Deacetylase 1	Protein Coding	1
161	HDAC10	Histone Deacetylase 10	Protein Coding	1
162	HDAC11	Histone Deacetylase 11	Protein Coding	1
163	HDAC2	Histone Deacetylase 2	Protein Coding	1
164	HDAC3	Histone Deacetylase 3	Protein Coding	1
165	HDAC5	Histone Deacetylase 5	Protein Coding	1
166	HDAC6	Histone Deacetylase 6	Protein Coding	1
167	HDAC7	Histone Deacetylase 7	Protein Coding	1
168	HDAC8	Histone Deacetylase 8	Protein Coding	1
169	HDAC9	Histone Deacetylase 9	Protein Coding	1
170	MAP2K5	Mitogen-Activated Protein Kinase Kinase 5	Protein Coding	1
171	MAP3K1	Mitogen-Activated Protein Kinase Kinase Kinase 1	Protein Coding	1
172	MAP3K10	Mitogen-Activated Protein Kinase Kinase Kinase 10	Protein Coding	1
173	MAP3K11	Mitogen-Activated Protein Kinase Kinase Kinase 11	Protein Coding	1
174	MAP3K12	Mitogen-Activated Protein Kinase Kinase Kinase 12	Protein Coding	1
175	MAP3K13	Mitogen-Activated Protein Kinase Kinase Kinase 13	Protein Coding	1
176	MAP3K14	Mitogen-Activated Protein Kinase Kinase Kinase 14	Protein Coding	1
177	MAP3K6	Mitogen-Activated Protein Kinase Kinase Kinase 6	Protein Coding	1
178	MAP3K8	Mitogen-Activated Protein Kinase Kinase Kinase 8	Protein Coding	1
179	MAP3K9	Mitogen-Activated Protein Kinase Kinase Kinase 9	Protein Coding	1
180	MAPK11	Mitogen-Activated Protein Kinase 11	Protein Coding	1
181	MAPK12	Mitogen-Activated Protein Kinase 12	Protein Coding	1
182	MAPK13	Mitogen-Activated Protein Kinase 13	Protein Coding	1
183	MAPK4	Mitogen-Activated Protein Kinase 4	Protein Coding	1
184	MAPK6	Mitogen-Activated Protein Kinase 6	Protein Coding	1
185	MAPK7	Mitogen-Activated Protein Kinase 7	Protein Coding	1
186	SRC	SRC Proto-Oncogene, Non-Receptor Tyrosine Kinase	Protein Coding	1
187	ACTA1	Actin Alpha 1, Skeletal Muscle	Protein Coding	1
188	ACTA2	Actin Alpha 2, Smooth Muscle	Protein Coding	1
189	ACTB	Actin Beta	Protein Coding	1
190	ACTG1	Actin Gamma 1	Protein Coding	1
191	ACTG2	Actin Gamma 2, Smooth Muscle	Protein Coding	1
192	ADRA1A	Adrenoceptor Alpha 1A	Protein Coding	1
193	ADRA1B	Adrenoceptor Alpha 1B	Protein Coding	1
194	ADRA2A	Adrenoceptor Alpha 2A	Protein Coding	1
195	ADRA2B	Adrenoceptor Alpha 2B	Protein Coding	1
196	ADRB1	Adrenoceptor Beta 1	Protein Coding	1
197	ADRB2	Adrenoceptor Beta 2	Protein Coding	1
198	AGTR2	Angiotensin II Receptor Type 2	Protein Coding	1
199	RHOA	Ras Homolog Family Member A	Protein Coding	1
200	RHOB	Ras Homolog Family Member B	Protein Coding	1
201	RHOC	Ras Homolog Family Member C	Protein Coding	1
202	RHOD	Ras Homolog Family Member D	Protein Coding	1
203	RND3	Rho Family GTPase 3	Protein Coding	1
204	RHOG	Ras Homolog Family Member G	Protein Coding	1
205	RHOH	Ras Homolog Family Member H	Protein Coding	1
206	DIRAS3	DIRAS Family GTPase 3	Protein Coding	1
207	RND2	Rho Family GTPase 2	Protein Coding	1
208	ATF2	Activating Transcription Factor 2	Protein Coding	1
209	ATF6	Activating Transcription Factor 6	Protein Coding	1
210	LEFTY2	Left-Right Determination Factor 2	Protein Coding	1
211	EDNRA	Endothelin Receptor Type A	Protein Coding	1
212	EGFR	Epidermal Growth Factor Receptor	Protein Coding	1
213	EPOR	Erythropoietin Receptor	Protein Coding	1
214	ERBB2	Erb-B2 Receptor Tyrosine Kinase 2	Protein Coding	1
215	ERBB3	Erb-B2 Receptor Tyrosine Kinase 3	Protein Coding	1
216	ERBB4	Erb-B2 Receptor Tyrosine Kinase 4	Protein Coding	1
217	FGFR1	Fibroblast Growth Factor Receptor 1	Protein Coding	1
218	FGFR2	Fibroblast Growth Factor Receptor 2	Protein Coding	1
219	FGFR3	Fibroblast Growth Factor Receptor 3	Protein Coding	1
220	FGFR4	Fibroblast Growth Factor Receptor 4	Protein Coding	1
221	GNA12	G Protein Subunit Alpha 12	Protein Coding	1
222	GNA13	G Protein Subunit Alpha 13	Protein Coding	1
223	GNA14	G Protein Subunit Alpha 14	Protein Coding	1
224	GNA15	G Protein Subunit Alpha 15	Protein Coding	1
225	GNAL	G Protein Subunit Alpha L	Protein Coding	1
226	GNB1	G Protein Subunit Beta 1	Protein Coding	1
227	GNB2	G Protein Subunit Beta 2	Protein Coding	1
228	GNB3	G Protein Subunit Beta 3	Protein Coding	1
229	GNB4	G Protein Subunit Beta 4	Protein Coding	1
230	GNB5	G Protein Subunit Beta 5	Protein Coding	1
231	GNG2	G Protein Subunit Gamma 2	Protein Coding	1
232	GNG3	G Protein Subunit Gamma 3	Protein Coding	1
233	GNG4	G Protein Subunit Gamma 4	Protein Coding	1
234	HSPB1	Heat Shock Protein Family B (Small) Member 1	Protein Coding	1
235	INSR	Insulin Receptor	Protein Coding	1
236	ITGA1	Integrin Subunit Alpha 1	Protein Coding	1
237	ITGA10	Integrin Subunit Alpha 10	Protein Coding	1
238	ITGA11	Integrin Subunit Alpha 11	Protein Coding	1
239	ITGA2	Integrin Subunit Alpha 2	Protein Coding	1
240	ITGA2B	Integrin Subunit Alpha 2b	Protein Coding	1
241	ITGA3	Integrin Subunit Alpha 3	Protein Coding	1
242	ITGA4	Integrin Subunit Alpha 4	Protein Coding	1
243	ITGA5	Integrin Subunit Alpha 5	Protein Coding	1
244	ITGA6	Integrin Subunit Alpha 6	Protein Coding	1
245	ITGA7	Integrin Subunit Alpha 7	Protein Coding	1
246	ITGA8	Integrin Subunit Alpha 8	Protein Coding	1
247	ITGA9	Integrin Subunit Alpha 9	Protein Coding	1
248	ITGAD	Integrin Subunit Alpha D	Protein Coding	1
249	ITGAE	Integrin Subunit Alpha E	Protein Coding	1
250	ITGAL	Integrin Subunit Alpha L	Protein Coding	1
251	ITGAM	Integrin Subunit Alpha M	Protein Coding	1
252	ITGAV	Integrin Subunit Alpha V	Protein Coding	1
253	ITGAX	Integrin Subunit Alpha X	Protein Coding	1
254	ITGB1	Integrin Subunit Beta 1	Protein Coding	1
255	ITGB2	Integrin Subunit Beta 2	Protein Coding	1
256	ITGB3	Integrin Subunit Beta 3	Protein Coding	1
257	ITGB4	Integrin Subunit Beta 4	Protein Coding	1
258	ITGB5	Integrin Subunit Beta 5	Protein Coding	1
259	ITGB6	Integrin Subunit Beta 6	Protein Coding	1
260	ITGB7	Integrin Subunit Beta 7	Protein Coding	1
261	ITGB8	Integrin Subunit Beta 8	Protein Coding	1
262	JAK1	Janus Kinase 1	Protein Coding	1
263	JAK2	Janus Kinase 2	Protein Coding	1
264	JAK3	Janus Kinase 3	Protein Coding	1
265	JUN	Jun Proto-Oncogene, AP-1 Transcription Factor Subunit	Protein Coding	1
266	LIFR	LIF Receptor Subunit Alpha	Protein Coding	1
267	TAB1	TGF-Beta Activated Kinase 1 (MAP3K7) Binding Protein 1	Protein Coding	1
268	MAPKAPK2	MAPK Activated Protein Kinase 2	Protein Coding	1
269	MAPKAPK3	MAPK Activated Protein Kinase 3	Protein Coding	1
270	MYLK	Myosin Light Chain Kinase	Protein Coding	1
271	NTRK1	Neurotrophic Receptor Tyrosine Kinase 1	Protein Coding	1
272	NTRK2	Neurotrophic Receptor Tyrosine Kinase 2	Protein Coding	1
273	NTRK3	Neurotrophic Receptor Tyrosine Kinase 3	Protein Coding	1
274	PDGFRA	Platelet Derived Growth Factor Receptor Alpha	Protein Coding	1
275	PDGFRB	Platelet Derived Growth Factor Receptor Beta	Protein Coding	1
276	PTK2	Protein Tyrosine Kinase 2	Protein Coding	1
277	PTK2B	Protein Tyrosine Kinase 2 Beta	Protein Coding	1
278	RAC1	Rac Family Small GTPase 1	Protein Coding	1
279	RAC2	Rac Family Small GTPase 2	Protein Coding	1
280	RAC3	Rac Family Small GTPase 3	Protein Coding	1
281	ROCK1	Rho Associated Coiled-Coil Containing Protein Kinase 1	Protein Coding	1
282	ROCK2	Rho Associated Coiled-Coil Containing Protein Kinase 2	Protein Coding	1
283	RPS6KA1	Ribosomal Protein S6 Kinase A1	Protein Coding	1
284	SRF	Serum Response Factor	Protein Coding	1
285	STAT3	Signal Transducer And Activator Of Transcription 3	Protein Coding	1
286	TGFB1	Transforming Growth Factor Beta 1	Protein Coding	1
287	TGFB2	Transforming Growth Factor Beta 2	Protein Coding	1
288	TGFB3	Transforming Growth Factor Beta 3	Protein Coding	1
289	TGFBR1	Transforming Growth Factor Beta Receptor 1	Protein Coding	1
290	TGFBR2	Transforming Growth Factor Beta Receptor 2	Protein Coding	1
291	TGFBR3	Transforming Growth Factor Beta Receptor 3	Protein Coding	1
292	AKT2	AKT Serine/Threonine Kinase 2	Protein Coding	1
293	AKT3	AKT Serine/Threonine Kinase 3	Protein Coding	1
294	BAD	BCL2 Associated Agonist Of Cell Death	Protein Coding	1
295	CASP9	Caspase 9	Protein Coding	1
296	CHUK	Component Of Inhibitor Of Nuclear Factor Kappa B Kinase Complex	Protein Coding	1
297	CRK	CRK Proto-Oncogene, Adaptor Protein	Protein Coding	1
298	FOXO3	Forkhead Box O3	Protein Coding	1
299	GYS1	Glycogen Synthase 1	Protein Coding	1
300	GYS2	Glycogen Synthase 2	Protein Coding	1
301	IGF2	Insulin Like Growth Factor 2	Protein Coding	1
302	IKBKB	Inhibitor Of Nuclear Factor Kappa B Kinase Subunit Beta	Protein Coding	1
303	IKBKE	Inhibitor Of Nuclear Factor Kappa B Kinase Subunit Epsilon	Protein Coding	1
304	IKBKG	Inhibitor Of Nuclear Factor Kappa B Kinase Regulatory Subunit Gamma	Protein Coding	1
305	IRS2	Insulin Receptor Substrate 2	Protein Coding	1
306	IRS4	Insulin Receptor Substrate 4	Protein Coding	1
307	NFAT5	Nuclear Factor Of Activated T Cells 5	Protein Coding	1
308	NFATC1	Nuclear Factor Of Activated T Cells 1	Protein Coding	1
309	NFATC2	Nuclear Factor Of Activated T Cells 2	Protein Coding	1
310	NFATC3	Nuclear Factor Of Activated T Cells 3	Protein Coding	1
311	NFKB1	Nuclear Factor Kappa B Subunit 1	Protein Coding	1
312	NFKBIA	NFKB Inhibitor Alpha	Protein Coding	1
313	NFKBIB	NFKB Inhibitor Beta	Protein Coding	1
314	NFKBIE	NFKB Inhibitor Epsilon	Protein Coding	1
315	PDPK1	3-Phosphoinositide Dependent Protein Kinase 1	Protein Coding	1
316	PTEN	Phosphatase And Tensin Homolog	Protein Coding	1
317	RAPGEF1	Rap Guanine Nucleotide Exchange Factor 1	Protein Coding	1
318	RPS6	Ribosomal Protein S6	Protein Coding	1
319	SLC2A4	Solute Carrier Family 2 Member 4	Protein Coding	1
320	YWHAB	Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Beta	Protein Coding	1
321	YWHAE	Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Epsilon	Protein Coding	1
322	YWHAG	Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Gamma	Protein Coding	1
323	YWHAH	Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Eta	Protein Coding	1
324	YWHAQ	Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Theta	Protein Coding	1
325	YWHAZ	Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Zeta	Protein Coding	1

Disorders associated with NFAT and Cardiac Hypertrophy SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Rasopathy	Enrichment	HRAS, KRAS, MAP2K1, MAP2K2, MRAS, NRAS, RAF1, RRAS2, SOS1, SOS2	16.00
2	Noonan syndrome 1	Enrichment	BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MRAS, NRAS, RAF1, RRAS, RRAS2, SOS1, SOS2	11.25
3	Noonan syndrome and noonan-related syndrome	Enrichment	BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF1, SOS1	10.89
4	Lung non-small cell carcinoma	Enrichment	BRAF, EGFR, ERBB2, HRAS, KRAS, MAP2K1, NRAS	9.77
5	Leukoencephalopathy with vanishing white matter 1	Enrichment	EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5	8.74
6	Leukoencephalopathy with vanishing white matter 5	Enrichment	EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5	8.32
7	Cardiofaciocutaneous syndrome 1	Enrichment	BRAF, KRAS, MAP2K1, MAP2K2	8.04
8	Cardiofaciocutaneous syndrome	Enrichment	BRAF, KRAS, MAP2K1, MAP2K2	8.04
9	Leukoencephalopathy with vanishing white matter	Enrichment	EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5	7.97
10	Pilomyxoid astrocytoma	Enrichment	BRAF, FGFR1, KRAS, NTRK2, RAF1	7.43
11	Thyroid cancer, nonmedullary, 2	Enrichment	BRAF, HRAS, NRAS, PTEN	6.51
12	Noonan syndrome 3	Enrichment	HRAS, KRAS, RAF1, SOS1	6.51
13	Follicular thyroid carcinoma	Enrichment	BRAF, HRAS, NRAS, PTEN	6.51
14	Melanocytic nevus syndrome, congenital	Enrichment	BRAF, HRAS, NRAS, RAF1	6.21
15	Langerhans cell histiocytosis	Enrichment	BRAF, MAP2K1, NRAS	6.03
16	Lung cancer susceptibility 3	Enrichment	ACTA2, BRAF, EGFR, ERBB2, KRAS	5.50
17	Nevus, epidermal	Enrichment	FGFR3, HRAS, KRAS, NRAS	5.47
18	Schimmelpenning-feuerstein-mims syndrome	Enrichment	HRAS, KRAS, NRAS	5.43
19	Breast implant-associated anaplastic large cell lymphoma	Enrichment	JAK1, JAK2, STAT3	5.24
20	Auriculocondylar syndrome 1	Enrichment	EDN1, GNAI3, PLCB4	5.12
21	Autosomal dominant non-syndromic intellectual disability	Enrichment	CACNA1I, CACNG2, CAMK2A, CAMK2B, PPP3CA, YWHAZ	5.03
22	Hemimegalencephaly	Enrichment	AKT3, MTOR, PTEN	5.03
23	Long qt syndrome 1	Enrichment	CACNA1C, CALM1, CALM2, CALM3, ITPR3	4.99
24	Bladder cancer	Enrichment	EGFR, ERBB2, ERBB3, FGFR3, HRAS, KRAS	4.97
25	Differentiated thyroid carcinoma	Enrichment	BRAF, HRAS, KRAS, NRAS, NTRK1, NTRK3	4.97
26	Loeys-dietz syndrome	Enrichment	TGFB2, TGFB3, TGFBR1, TGFBR2	4.92
27	Catecholaminergic polymorphic ventricular tachycardia	Enrichment	CALM1, CALM2, CALM3	4.29
28	Primary hypereosinophilic syndrome	Enrichment	FGFR1, PDGFRA, PDGFRB	4.25
29	Pulmonic stenosis	Enrichment	BRAF, SOS1	4.01
30	Ras-associated autoimmune leukoproliferative disorder	Enrichment	KRAS, NRAS	4.01
31	Ectodermal dysplasia and immune deficiency	Enrichment	IKBKG, NFKBIA	4.01
32	Fetomaternal alloimmune thrombocytopenia 1	Enrichment	ITGA2, ITGA2B, ITGB3	3.96
33	Lung squamous cell carcinoma	Enrichment	EGFR, FGFR3, KRAS	3.96
34	Familial thoracic aortic aneurysm and aortic dissection	Enrichment	ACTA2, MYLK, TGFB2, TGFB3, TGFBR1, TGFBR2	3.90
35	Pigmented nodular adrenocortical disease, primary, 1	Enrichment	GNAS, PRKAR1A	3.81
36	Colorectal cancer	Enrichment	AKT1, BRAF, EP300, ERBB2, FGFR2, FGFR3, NRAS, PIK3R1	3.78
37	Juvenile myelomonocytic leukemia	Enrichment	KRAS, NRAS, RRAS	3.71
38	Undetermined early-onset epileptic encephalopathy	Enrichment	CACNA1A, CACNA1B, CACNA2D1, PPP3CA, YWHAG	3.65
39	Long qt syndrome	Enrichment	CACNA1C, CACNA1S, CALM1, CALM2	3.63
40	Lung cancer	Enrichment	ACTA2, BRAF, EGFR, ERBB2, KRAS	3.61
41	Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures	Enrichment	CACNA1A, CACNA1C	3.54
42	Large congenital melanocytic nevus	Enrichment	HRAS, NRAS	3.54
43	Arteriovenous malformations of the brain	Enrichment	BRAF, EGFR, IL6, KRAS	3.49
44	Loeys-dietz syndrome 2	Enrichment	TGFBR1, TGFBR2	3.49
45	Pfeiffer syndrome	Enrichment	FGFR1, FGFR2	3.49
46	Jackson-weiss syndrome	Enrichment	FGFR1, FGFR2	3.49
47	Encephalocraniocutaneous lipomatosis	Enrichment	FGFR1, KRAS	3.49
48	Loeys-dietz syndrome 4	Enrichment	TGFB2, TGFB3	3.49
49	Baraitser-winter cerebrofrontofacial syndrome	Enrichment	ACTB, ACTG1	3.49
50	Primary hyperaldosteronism	Enrichment	BRAF, CACNA1H, GNAS	3.35
51	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	Enrichment	GNA11, PIK3R1	3.34
52	Megalencephaly-capillary malformation-polymicrogyria syndrome	Enrichment	AKT3, PIK3R2	3.24
53	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Enrichment	AKT3, PIK3R2	3.24
54	Chronic myelogenous leukemia, bcr-abl1 positive	Enrichment	KRAS, NRAS	3.24
55	Noonan syndrome with multiple lentigines	Enrichment	BRAF, RAF1	3.24
56	Heart disease	Enrichment	CREBBP, GATA4, NKX2-5	3.20
57	46,xy partial gonadal dysgenesis	Enrichment	GATA4, MAP3K1, SOS1	3.20
58	Marfan syndrome	Enrichment	TGFB2, TGFBR1, TGFBR2	3.20
59	Type 2 diabetes mellitus	Enrichment	AKT2, IRS1, IRS2, SLC2A4	3.12
60	Diffuse gastric and lobular breast cancer syndrome	Enrichment	KRAS, MAP3K6	3.04
61	Insulin-like growth factor i	Enrichment	IGF1, IGF1R	3.02
62	Crouzon syndrome	Enrichment	FGFR2, FGFR3	3.02
63	Hyper-ige syndrome 1, autosomal dominant, with recurrent infections	Enrichment	ITGB3, STAT3	3.02
64	Lacrimoauriculodentodigital syndrome 1	Enrichment	FGFR2, FGFR3	3.02
65	Bleeding disorder, platelet-type, 16	Enrichment	ITGA2B, ITGB3	3.02
66	Stuve-wiedemann syndrome 1	Enrichment	IL6ST, LIFR	3.02
67	Tethered spinal cord syndrome	Enrichment	BRAF, CREBBP	3.02
68	Loeys-dietz syndrome 1	Enrichment	TGFBR1, TGFBR2	3.02
69	Spermatocytoma	Enrichment	FGFR3, HRAS	3.02
70	Anastomosing haemangioma	Enrichment	GNA11, GNA14	3.02
71	Stüve-wiedemann syndrome	Enrichment	IL6ST, LIFR	3.02
72	Lip and oral cavity carcinoma	Enrichment	BRAF, EGFR, HRAS	2.95
73	Breast adenocarcinoma	Enrichment	AKT1, KRAS	2.85
74	Nk-cell enteropathy	Enrichment	ERBB4, IGF1R, JAK3	2.84
75	Erythrocytosis, familial, 1	Enrichment	EPOR, JAK2	2.72
76	Megacystis-microcolon-intestinal hypoperistalsis syndrome 1	Enrichment	ACTG2, MYLK	2.72
77	Saethre-chotzen syndrome	Enrichment	FGFR2, FGFR3	2.72
78	Glioma	Enrichment	FGFR2, NTRK3	2.72
79	Capillary malformation-arteriovenous malformation 1	Enrichment	KRAS, MAP2K1	2.71
80	Leukemia, chronic myeloid	Enrichment	KRAS, NRAS	2.71
81	Gallbladder cancer	Enrichment	BRAF, KRAS	2.71
82	Overgrowth syndrome	Enrichment	MTOR, PIK3R1	2.71
83	Brugada syndrome	Enrichment	CACNA1C, CACNA2D1, CACNB2	2.68
84	Rare genetic intellectual disability	Enrichment	CREBBP, EP300, MTOR	2.65
85	Melanoma, uveal	Enrichment	GNA11, PLCB4	2.65
86	Rubinstein-taybi syndrome 1	Enrichment	CREBBP, EP300	2.65
87	Chromosome 16p13.3 deletion syndrome, proximal	Enrichment	CREBBP, EP300	2.65
88	Ovarian cancer	Enrichment	AKT1, EGFR, ERBB2, KRAS, NTRK1, PDGFRA, RRAS2	2.64
89	Gliosarcoma	Enrichment	EGFR, FGFR1, FGFR3	2.57
90	Hemifacial hyperplasia	Enrichment	FGFR2, FGFR3	2.51
91	Visceral myopathy 1	Enrichment	ACTG2, MYLK	2.51
92	Giant cell glioblastoma	Enrichment	EGFR, FGFR1, FGFR3	2.49
93	Myeloma, multiple	Enrichment	BRAF, CREBBP, FGFR3, KRAS, PIK3R2	2.49
94	Arteriovenous malformation	Enrichment	HRAS, MAP2K1	2.48
95	Cowden syndrome	Enrichment	AKT1, PTEN	2.48
96	Lennox-gastaut syndrome	Enrichment	CACNA1A, MAPK10	2.39
97	Myopathy, x-linked, with excessive autophagy	Enrichment	HRAS, MAP2K1	2.38
98	Melanoma	Enrichment	BRAF, PTEN	2.38
99	Diffuse large b-cell lymphoma	Enrichment	BRAF, CREBBP, STAT3	2.35
100	Epidermolysis bullosa, junctional 5b, with pyloric atresia	Enrichment	ITGA6, ITGB4	2.34
101	46,xy disorder of sex development	Enrichment	FGFR3, INSR	2.34
102	Glycogen storage disease	Enrichment	GYS1, GYS2	2.30
103	Specific learning disability	Enrichment	MAPK1, YWHAG	2.30
104	Cerebral palsy	Enrichment	CACNA1A, CACNA1C, GNB1, PDGFRB	2.29
105	Ellis-van creveld syndrome	Enrichment	PRKACA, PRKACB	2.28
106	Inflammatory bowel disease 1	Enrichment	IL6, PRKCQ	2.28
107	Meningioma	Enrichment	AKT1, PTEN	2.22
108	Glanzmann thrombasthenia 1	Enrichment	ITGA2B, ITGB3	2.20
109	Breast cancer	Enrichment	AKT1, CACNA2D1, KRAS, PTEN	2.19
110	Congenital stationary night blindness	Enrichment	CACNA1F, CACNA2D4, GNB3	2.11
111	Atrial heart septal defect	Enrichment	HDAC8, NKX2-5	2.10
112	Interatrial communication	Enrichment	HDAC8, NKX2-5	2.10
113	Cone-rod dystrophy 6	Enrichment	CACNA1F, CACNA2D4	2.09
114	Hereditary breast carcinoma	Enrichment	AKT1, KRAS, PTEN	2.03
115	Wilms tumor 1	Enrichment	BRAF, IGF2	2.03
116	Anhidrosis, isolated, with normal sweat glands	Enrichment	ITPR2	2.01
117	Proteus syndrome	Enrichment	AKT1	2.01
118	Thyrotoxic periodic paralysis 1	Enrichment	CACNA1S	2.01
119	Hypoinsulinemic hypoglycemia with hemihypertrophy	Enrichment	AKT2	2.01
120	Hypothyroidism, congenital, nongoitrous, 9	Enrichment	IRS4	2.01
121	Oculoectodermal syndrome	Enrichment	KRAS	2.01
122	Vacterl association with hydrocephalus	Enrichment	PTEN	2.01
123	Pallister-killian syndrome	Enrichment	ARAF	2.01
124	Incontinentia pigmenti	Enrichment	IKBKG	2.01
125	Autoinflammatory disease, systemic, x-linked	Enrichment	IKBKG	2.01
126	Noonan syndrome 5	Enrichment	RAF1	2.01
127	Noonan syndrome 4	Enrichment	SOS1	2.01
128	Epilepsy, idiopathic generalized 9	Enrichment	CACNB4	2.01
129	Brugada syndrome 4	Enrichment	CACNB2	2.01
130	Melorheostosis, isolated	Enrichment	MAP2K1	2.01
131	Noonan syndrome 7	Enrichment	BRAF	2.01
132	Leopard syndrome 3	Enrichment	BRAF	2.01
133	Nail disorder, nonsyndromic congenital, 3	Enrichment	PLCD1	2.01
134	Cardiomyopathy, dilated, 1nn	Enrichment	RAF1	2.01
135	Cardiofaciocutaneous syndrome 3	Enrichment	MAP2K1	2.01
136	Melanosis, neurocutaneous	Enrichment	NRAS	2.01
137	Noonan syndrome 9	Enrichment	SOS2	2.01
138	Noonan syndrome 6	Enrichment	NRAS	2.01
139	Fetal encasement syndrome	Enrichment	CHUK	2.01
140	Episodic ataxia, type 5	Enrichment	CACNB4	2.01
141	Ataxia-oculomotor apraxia 3	Enrichment	PIK3R5	2.01
142	Noonan syndrome 11	Enrichment	MRAS	2.01
143	Immunodeficiency 15b	Enrichment	IKBKB	2.01
144	Noonan syndrome 13	Enrichment	MAPK1	2.01
145	Spondylometaphyseal dysplasia with corneal dystrophy	Enrichment	PLCB3	2.01
146	Leukoencephalopathy with vanishing white matter 3	Enrichment	EIF2B3	2.01
147	Immunodeficiency 15a	Enrichment	IKBKB	2.01
148	Charcot-marie-tooth disease, demyelinating, type 1j	Enrichment	ITPR3	2.01
149	Neurodevelopmental disorder with speech impairment and with or without seizures	Enrichment	CACNA1I	2.01
150	Intellectual developmental disorder, autosomal recessive 63	Enrichment	CAMK2A	2.01
151	Congenital myopathy 18	Enrichment	CACNA1S	2.01
152	Developmental and epileptic encephalopathy 91	Enrichment	PPP3CA	2.01
153	Intellectual developmental disorder, autosomal dominant 54	Enrichment	CAMK2B	2.01
154	Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development	Enrichment	PPP3CA	2.01
155	Short syndrome	Enrichment	PIK3R1	2.01
156	Ectodermal dysplasia and immunodeficiency 1	Enrichment	IKBKG	2.01
157	Immune dysregulation, autoimmunity, and autoinflammation	Enrichment	PLCG1	2.01
158	Auriculocondylar syndrome 2a	Enrichment	PLCB4	2.01
159	Cone-rod dystrophy, x-linked, 3	Enrichment	CACNA1F	2.01
160	Autism 19	Enrichment	EIF4E	2.01
161	Retinal cone dystrophy 4	Enrichment	CACNA2D4	2.01
162	Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language	Enrichment	MEF2C	2.01
163	Papillary tumor of the pineal region	Enrichment	PTEN	2.01
164	Cardiofaciocutaneous syndrome 2	Enrichment	KRAS	2.01
165	Primary aldosteronism, seizures, and neurologic abnormalities	Enrichment	CACNA1D	2.01
166	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	Enrichment	AKT3	2.01
167	Lymphangioma	Enrichment	BRAF	2.01
168	Brugada syndrome 3	Enrichment	CACNA1C	2.01
169	Epilepsy, childhood absence 6	Enrichment	CACNA1H	2.01
170	Malignant hyperthermia 5	Enrichment	CACNA1S	2.01
171	Coronary artery disease, autosomal dominant, 1	Enrichment	MEF2A	2.01
172	Phace association	Enrichment	BRAF	2.01
173	Melorheostosis	Enrichment	MAP2K1	2.01
174	Leopard syndrome 2	Enrichment	RAF1	2.01
175	Intellectual developmental disorder, autosomal dominant 10	Enrichment	CACNG2	2.01
176	Sinoatrial node dysfunction and deafness	Enrichment	CACNA1D	2.01
177	Immunodeficiency 36 with lymphoproliferation	Enrichment	PIK3R1	2.01
178	Cardiofaciocutaneous syndrome 4	Enrichment	MAP2K2	2.01
179	Autoinflammation, antibody deficiency, and immune dysregulation	Enrichment	PLCG2	2.01
180	Long qt syndrome 16	Enrichment	CALM3	2.01
181	Cowden syndrome 6	Enrichment	AKT1	2.01
182	Agammaglobulinemia 7, autosomal recessive	Enrichment	PIK3R1	2.01
183	Spinocerebellar ataxia 42	Enrichment	CACNA1G	2.01
184	Developmental and epileptic encephalopathy 110	Enrichment	CACNA2D1	2.01
185	Glioma susceptibility 2	Enrichment	PTEN	2.01
186	Familial cold autoinflammatory syndrome 3	Enrichment	PLCG2	2.01
187	Developmental and epileptic encephalopathy 56	Enrichment	YWHAG	2.01
188	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits	Enrichment	CACNA1G	2.01
189	Developmental and epileptic encephalopathy 69	Enrichment	CACNA1E	2.01
190	Hyperaldosteronism, familial, type iv	Enrichment	CACNA1H	2.01
191	Bartsocas-papas syndrome 2	Enrichment	CHUK	2.01
192	Intellectual developmental disorder, autosomal dominant 53	Enrichment	CAMK2A	2.01
193	Trigonitis	Enrichment	RAF1	2.01
194	Auriculocondylar syndrome 2b	Enrichment	PLCB4	2.01
195	Intellectual developmental disorder, autosomal dominant 59	Enrichment	CAMK2G	2.01
196	Long qt syndrome 15	Enrichment	CALM2	2.01
197	Capillary hemangioma	Enrichment	AKT3	2.01
198	Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy	Enrichment	ITPR3	2.01
199	Leukoencephalopathy with vanishing white matter 2	Enrichment	EIF2B2	2.01
200	5q14.3 microdeletion syndrome	Enrichment	MEF2C	2.01
201	Conn's syndrome	Enrichment	CACNA1H	2.01
202	Congenital pulmonary airway malformation	Enrichment	KRAS	2.01
203	Complete atrioventricular septal defect without ventricular hypoplasia	Enrichment	MEF2C	2.01
204	Sporadic hemiplegic migraine	Enrichment	CACNA1A	2.01
205	Syringocystadenoma papilliferum	Enrichment	BRAF	2.01
206	Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiency	Enrichment	CHUK	2.01
207	Atypical timothy syndrome	Enrichment	CACNA1C	2.01
208	Aldosterone-producing adenoma with seizures and neurological abnormalities	Enrichment	CACNA1D	2.01
209	Ganglioglioma	Enrichment	BRAF	2.01
210	Nongerminomatous germ cell tumor	Enrichment	BRAF	2.01
211	Phace syndrome	Enrichment	BRAF	2.01
212	Timothy syndrome type 2	Enrichment	CACNA1C	2.01
213	Phakomatosis pigmentokeratotica	Enrichment	HRAS	2.01
214	Mef2c-related disorder	Enrichment	MEF2C	2.01
215	Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome	Enrichment	PTEN	2.01
216	Periodic paralysis with transient compartment-like syndrome	Enrichment	CACNA1S	2.01
217	Classic hairy cell leukemia	Enrichment	BRAF	2.01
218	Timothy syndrome type 1	Enrichment	CACNA1C	2.01
219	Distal 17p13.3 microdeletion syndrome	Enrichment	YWHAE	2.01
220	Inflammatory bowel disease-recurrent sinopulmonary infections syndrome	Enrichment	NFAT5	2.01
221	Neurocutaneous melanocytosis	Enrichment	NRAS	2.01
222	Cacna1c-related disorders	Enrichment	CACNA1C	2.01
223	Akt2-related familial partial lipodystrophy	Enrichment	AKT2	2.01
224	Benign paroxysmal torticollis of infancy	Enrichment	CACNA1A	2.01
225	Rhabdomyosarcoma	Enrichment	HRAS, PTEN	1.97
226	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	Enrichment	CACNA1C, RAC1	1.97
227	Junctional epidermolysis bullosa	Enrichment	ITGA6, ITGB4	1.97
228	Aortic valve disease 1	Enrichment	NKX2-5, SOS1	1.96
229	Hypocalciuric hypercalcemia, familial, type ii	Enrichment	GNA11	1.90
230	Atrial septal defect 7 with or without atrioventricular conduction defects	Enrichment	NKX2-5	1.90
231	Acrodysostosis 1 with or without hormone resistance	Enrichment	PRKAR1A	1.90
232	Cardiospondylocarpofacial syndrome	Enrichment	MAP3K7	1.90
233	Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia	Enrichment	HDAC6	1.90
234	Hypothyroidism, congenital, nongoitrous, 5	Enrichment	NKX2-5	1.90
235	Pseudohypoparathyroidism, type ic	Enrichment	GNAS	1.90
236	Carney complex, type 1	Enrichment	PRKAR1A	1.90
237	Osseous heteroplasia, progressive	Enrichment	GNAS	1.90
238	Deafness, autosomal recessive 44	Enrichment	ADCY1	1.90
239	46,xy sex reversal 6	Enrichment	MAP3K1	1.90
240	Frontometaphyseal dysplasia 2	Enrichment	MAP3K7	1.90
241	Atrioventricular septal defect 4	Enrichment	GATA4	1.90
242	Autoimmune lymphoproliferative syndrome, type iii	Enrichment	PRKCD	1.90
243	Ventricular tachycardia, familial	Enrichment	GNAI2	1.90
244	Acth-independent macronodular adrenal hyperplasia 1	Enrichment	GNAS	1.90
245	Auriculocondylar syndrome 3	Enrichment	EDN1	1.90
246	Stuve-wiedemann syndrome 2	Enrichment	IL6ST	1.90
247	Hyper-ige syndrome 4a, autosomal dominant, with recurrent infections	Enrichment	IL6ST	1.90
248	Pituitary adenoma 3, multiple types	Enrichment	GNAS	1.90
249	Auriculocondylar syndrome 4	Enrichment	HDAC9	1.90
250	Cornelia de lange syndrome 5	Enrichment	HDAC8	1.90
251	Cardioacrofacial dysplasia 2	Enrichment	PRKACB	1.90
252	Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities	Enrichment	GNAI1	1.90
253	Myxoma, intracardiac	Enrichment	PRKAR1A	1.90
254	Question mark ears, isolated	Enrichment	EDN1	1.90
255	Spinocerebellar ataxia 14	Enrichment	PRKCG	1.90
256	Atrial septal defect 2	Enrichment	GATA4	1.90
257	Ventricular septal defect 3	Enrichment	NKX2-5	1.90
258	Hypocalcemia, autosomal dominant 2	Enrichment	GNA11	1.90
259	Testicular anomalies with or without congenital heart disease	Enrichment	GATA4	1.90
260	Pigmented nodular adrenocortical disease, primary, 4	Enrichment	PRKACA	1.90
261	Disorders of gnas inactivation	Enrichment	GNAS	1.90
262	Hypoplastic left heart syndrome 2	Enrichment	NKX2-5	1.90
263	Congenital heart defects and ectodermal dysplasia	Enrichment	PRKD1	1.90
264	Cardioacrofacial dysplasia 1	Enrichment	PRKACA	1.90
265	Thrombocytopenia 6	Enrichment	SRC	1.90
266	Hyper-ige syndrome 4b, autosomal recessive, with recurrent infections	Enrichment	IL6ST	1.90
267	8p23.1 microdeletion syndrome	Enrichment	GATA4	1.90
268	Immunodeficiency 94 with autoinflammation and dysmorphic facies	Enrichment	IL6ST	1.90
269	Menke-hennekam syndrome 1	Enrichment	CREBBP	1.90
270	Rubinstein-taybi syndrome due to 16p13.3 microdeletion	Enrichment	CREBBP	1.90
271	Immunodeficiency 112	Enrichment	MAP3K14	1.90
272	Prkar1b-related neurodegenerative dementia with intermediate filaments	Enrichment	PRKAR1B	1.90
273	Aortic arch interruption	Enrichment	NKX2-5	1.90
274	Cerebral cavernous malformations 5	Enrichment	MAP3K3	1.90
275	Atrial heart septal defect 7	Enrichment	NKX2-5	1.90
276	Partial atrioventricular septal defect with ventricular hypoplasia	Enrichment	GATA4	1.90
277	Menke-hennekam syndrome	Enrichment	CREBBP	1.90
278	Monostotic fibrous dysplasia	Enrichment	GNAS	1.90
279	Phakomatosis cesiomarmorata	Enrichment	GNA11	1.90
280	Malignant epithelial tumor of salivary glands	Enrichment	PRKD1	1.90
281	Verrucous hemangioma	Enrichment	MAP3K3	1.90
282	Mazabraud syndrome	Enrichment	GNAS	1.90
283	Nik deficiency	Enrichment	MAP3K14	1.90
284	Autosomal dominant macrothrombocytopenia	Enrichment	ITGA2B, ITGB3	1.88
285	Spastic ataxia	Enrichment	CACNA1G, CACNB4, ITPR1	1.81
286	Hereditary breast ovarian cancer syndrome	Enrichment	EIF2B5, KRAS, PTEN	1.77
287	Non-immune hydrops fetalis	Enrichment	ACTA1, HRAS, KRAS	1.75
288	Erythroleukemia, familial	Enrichment	ERBB3	1.75
289	Hypochondroplasia	Enrichment	FGFR3	1.75
290	Beare-stevenson cutis gyrata syndrome	Enrichment	FGFR2	1.75
291	Paget disease, extramammary	Enrichment	ERBB2	1.75
292	Osteoglophonic dysplasia	Enrichment	FGFR1	1.75
293	Thanatophoric dysplasia, type i	Enrichment	FGFR3	1.75
294	Trigonocephaly 1	Enrichment	FGFR1	1.75
295	Donohue syndrome	Enrichment	INSR	1.75
296	Baraitser-winter syndrome 1	Enrichment	ACTB	1.75
297	Muenke syndrome	Enrichment	FGFR3	1.75
298	Premature aging syndrome, penttinen type	Enrichment	PDGFRB	1.75
299	Systemic lupus erythematosus 6	Enrichment	ITGAM	1.75
300	Hyperinsulinemic hypoglycemia, familial, 5	Enrichment	INSR	1.75
301	Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities	Enrichment	INSR	1.75
302	Diabetes mellitus, insulin-resistant, with acanthosis nigricans	Enrichment	INSR	1.75
303	Hypereosinophilic syndrome, idiopathic	Enrichment	PDGFRA	1.75
304	Immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis	Enrichment	RAC2	1.75
305	Scaphocephaly, maxillary retrusion, and impaired intellectual development	Enrichment	FGFR2	1.75
306	Resting heart rate, variation in	Enrichment	ADRB1	1.75
307	Congenital myopathy 2a, typical, autosomal dominant	Enrichment	ACTA1	1.75
308	Apert syndrome	Enrichment	FGFR2	1.75
309	Multiple self-healing squamous epithelioma	Enrichment	TGFBR1	1.75
310	Mandibulofacial dysostosis with alopecia	Enrichment	EDNRA	1.75
311	Myofibromatosis, infantile, 1	Enrichment	PDGFRB	1.75
312	Thanatophoric dysplasia, type ii	Enrichment	FGFR3	1.75
313	Myopathy, scapulohumeroperoneal	Enrichment	ACTA1	1.75
314	Lethal congenital contracture syndrome 2	Enrichment	ERBB3	1.75
315	Gist-plus syndrome	Enrichment	PDGFRA	1.75
316	Camptodactyly, tall stature, and hearing loss syndrome	Enrichment	FGFR3	1.75
317	Bent bone dysplasia syndrome 1	Enrichment	FGFR2	1.75
318	Megacystis-microcolon-intestinal hypoperistalsis syndrome 5	Enrichment	ACTG2	1.75
319	Visceral neuropathy, familial, 2, autosomal recessive	Enrichment	ERBB2	1.75
320	Neurodevelopmental disorder with hypotonia and dysmorphic facies	Enrichment	GNB2	1.75
321	Developmental and epileptic encephalopathy 58	Enrichment	NTRK2	1.75
322	Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies	Enrichment	RAC3	1.75
323	Fetomaternal alloimmune thrombocytopenia 2	Enrichment	ITGA2B	1.75
324	Congenital smooth muscle hamartoma, with or without hemihypertrophy	Enrichment	ACTB	1.75
325	Myeloid and lymphoid neoplasms associated with pdgfra rearrangement	Enrichment	PDGFRA	1.75
326	Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia	Enrichment	RAC2	1.75
327	T-cell large granular lymphocyte leukemia	Enrichment	STAT3	1.75
328	Lodder-merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia	Enrichment	GNB5	1.75
329	Crouzon syndrome with acanthosis nigricans	Enrichment	FGFR3	1.75
330	Camurati-engelmann disease 2	Enrichment	TGFB2	1.75
331	Charcot-marie-tooth disease, axonal, type 2f	Enrichment	HSPB1	1.75
332	Becker nevus syndrome	Enrichment	ACTB	1.75
333	Dystonia-deafness syndrome 1	Enrichment	ACTB	1.75
334	Visceral neuropathy, familial, 3, autosomal dominant	Enrichment	ACTG2	1.75
335	Colorectal cancer, hereditary nonpolyposis, type 6	Enrichment	TGFBR2	1.75
336	Congenital myopathy 2b, severe infantile, autosomal recessive	Enrichment	ACTA1	1.75
337	Basal ganglia calcification, idiopathic, 4	Enrichment	PDGFRB	1.75
338	Dystonia 25	Enrichment	GNAL	1.75
339	Amyotrophic lateral sclerosis 19	Enrichment	ERBB4	1.75
340	Achromatopsia 7	Enrichment	ATF6	1.75
341	Myeloid and lymphoid neoplasms associated with pdgfrb rearrangement	Enrichment	PDGFRB	1.75
342	Charcot-marie-tooth disease, dominant intermediate f	Enrichment	GNB4	1.75
343	Autosomal dominant familial visceral neuropathy	Enrichment	ACTG2	1.75
344	Obesity, hyperphagia, and developmental delay	Enrichment	NTRK2	1.75
345	Macular dystrophy, patterned, 3	Enrichment	MAPKAPK3	1.75
346	Achondroplasia, severe, with developmental delay and acanthosis nigricans	Enrichment	FGFR3	1.75
347	Kosaki overgrowth syndrome	Enrichment	PDGFRB	1.75
348	Hartsfield syndrome	Enrichment	FGFR1	1.75
349	Loeys-dietz syndrome 5	Enrichment	TGFB3	1.75
350	Autoimmune disease, multisystem, infantile-onset, 1	Enrichment	STAT3	1.75
351	Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies	Enrichment	RHOA	1.75
352	Intellectual developmental disorder, autosomal dominant 42	Enrichment	GNB1	1.75
353	Congenital myopathy 2c, severe infantile, autosomal dominant	Enrichment	ACTA1	1.75
354	Sick sinus syndrome 4	Enrichment	GNB2	1.75
355	Thrombocytopenia 8, with dysmorphic features and developmental delay	Enrichment	ACTB	1.75
356	Short sleep, familial natural, 2	Enrichment	ADRB1	1.75
357	Ocular pterygium-digital keloid dysplasia syndrome	Enrichment	PDGFRB	1.75
358	Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies	Enrichment	RHOA	1.75
359	Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia	Enrichment	RAC2	1.75
360	Immunodeficiency 129	Enrichment	RHOH	1.75
361	T-b+ severe combined immunodeficiency due to jak3 deficiency	Enrichment	JAK3	1.75
362	Amelogenesis imperfecta, type ih	Enrichment	ITGB6	1.75
363	Lacrimoauriculodentodigital syndrome 2	Enrichment	FGFR3	1.75
364	Baraitser-winter syndrome	Enrichment	ACTB	1.75
365	Lipodystrophy, familial partial, type 8	Enrichment	ADRA2A	1.75
366	T-cell immunodeficiency with epidermodysplasia verruciformis	Enrichment	RHOH	1.75
367	Stat3-related early-onset multisystem autoimmune disease	Enrichment	STAT3	1.75
368	Fetomaternal alloimmune thrombocytopenia 3	Enrichment	ITGA2	1.75
369	Immune dysregulation, neurodevelopmental defects, and colitis	Enrichment	ITGAV	1.75
370	Zebra body myopathy	Enrichment	ACTA1	1.75
371	Infantile lad-like disease due to rac2 deficiency	Enrichment	RAC2	1.75
372	Fgfr3-related chondrodysplasia	Enrichment	FGFR3	1.75
373	Congenital smooth muscle hamartoma	Enrichment	ACTB	1.75
374	Reticular dysgenesis-like severe combined immunodeficiency	Enrichment	RAC2	1.75
375	Developmental malformations-deafness-dystonia syndrome	Enrichment	ACTB	1.75
376	Camptodactyly-tall stature-scoliosis-hearing loss syndrome	Enrichment	FGFR3	1.75
377	Actin-accumulation myopathy	Enrichment	ACTA1	1.75
378	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom	Enrichment	RAC1	1.75
379	Hartsfield-bixler-demyer syndrome	Enrichment	FGFR1	1.75
380	Kaposiform hemangioendothelioma	Enrichment	GNA14	1.75
381	Chronic lymphoproliferative disorder of natural killer cells	Enrichment	STAT3	1.75
382	Mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency	Enrichment	JAK1	1.75
383	Myopathic intestinal pseudoobstruction	Enrichment	ACTG2	1.75
384	Rac2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome	Enrichment	RAC2	1.75
385	Non-syndromic unicoronal craniosynostosis	Enrichment	FGFR2	1.75
386	Serous carcinoma of the corpus uteri	Enrichment	ERBB2	1.75
387	Actg2 visceral myopathy	Enrichment	ACTG2	1.75
388	Microcephaly	Enrichment	CAMK2B, EP300, HDAC8, IGF1R, MAPK1	1.72
389	Connective tissue disease	Enrichment	ACTA2, FGFR3, TGFBR2	1.71
390	Spinocerebellar ataxia 29	Enrichment	ITPR1	1.71
391	Fibromatosis, gingival, 1	Enrichment	SOS1	1.71
392	Costello syndrome	Enrichment	HRAS	1.71
393	Glycogen storage disease 0, liver	Enrichment	GYS2	1.71
394	Timothy syndrome	Enrichment	CACNA1C	1.71
395	Night blindness, congenital stationary, type 2a	Enrichment	CACNA1F	1.71
396	Immunodeficiency 33	Enrichment	IKBKG	1.71
397	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	Enrichment	PIK3R5	1.71
398	Histiocytoma, angiomatoid fibrous	Enrichment	CREB1	1.71
399	Alternating hemiplegia of childhood 1	Enrichment	CACNA1A	1.71
400	Ectodermal dysplasia and immunodeficiency 2	Enrichment	NFKBIA	1.71
401	Ventricular tachycardia, catecholaminergic polymorphic, 4	Enrichment	CALM1	1.71
402	Silver-russell syndrome 3	Enrichment	IGF2	1.71
403	Spermatogenic failure 17	Enrichment	PLCZ1	1.71
404	Immunodeficiency, common variable, 12, with autoimmunity	Enrichment	NFKB1	1.71
405	Long qt syndrome 14	Enrichment	CALM1	1.71
406	Long qt syndrome 8	Enrichment	CACNA1C	1.71
407	Leukoencephalopathy with vanishing white matter 4	Enrichment	EIF2B4	1.71
408	Noonan syndrome 12	Enrichment	RRAS2	1.71
409	Cebalid syndrome	Enrichment	MTOR	1.71
410	Glycogen storage disease 0, muscle	Enrichment	GYS1	1.71
411	Senior-loken syndrome 7	Enrichment	AKT3	1.71
412	Ocular melanoma	Enrichment	PLCB4	1.71
413	Bardet-biedl syndrome 16	Enrichment	AKT3	1.71
414	Congenital disorder of glycosylation, type iw, autosomal dominant	Enrichment	CACNA1D	1.71
415	Smith-kingsmore syndrome	Enrichment	MTOR	1.71
416	Glucosephosphate dehydrogenase deficiency	Enrichment	IKBKG	1.71
417	Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements	Enrichment	CACNA1B	1.71
418	Glycogen storage disorder due to hepatic glycogen synthase deficiency	Enrichment	GYS2	1.71
419	Joint contractures, osteochondromas, and b-cell lymphoma	Enrichment	NFATC2	1.71
420	Vacterl with hydrocephalus	Enrichment	PTEN	1.71
421	Growth delay due to insulin-like growth factor type 1 deficiency	Enrichment	IGF1	1.71
422	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	Enrichment	GYS1	1.71
423	Common variable immunodeficiency 12	Enrichment	NFKB1	1.71
424	Juvenile polyposis of infancy	Enrichment	PTEN	1.71
425	Silver-russell syndrome due to an imprinting defect of 11p15	Enrichment	IGF2	1.71
426	Tafro syndrome	Enrichment	MAP2K2	1.71
427	Progressive bulbar palsy	Enrichment	CACNA1A	1.71
428	Wooly hair nevus	Enrichment	HRAS	1.71
429	Silver-russell syndrome due to 11p15 microduplication	Enrichment	IGF2	1.71
430	Heart, malformation of	Enrichment	GATA4, MAPK1	1.68
431	Patent foramen ovale	Enrichment	GATA4, NKX2-5	1.68
432	Congenital nervous system abnormality	Enrichment	CACNA1A, CAMK2B, EIF2B2, PTEN	1.68
433	Nervous system disease	Enrichment	CACNA1A, CAMK2B, EIF2B2, PTEN	1.68
434	Acute promyelocytic leukemia	Enrichment	PRKAR1A, STAT3	1.66
435	Cardiomyopathy, familial hypertrophic, 1	Enrichment	CACNA1C, RAF1	1.63
436	Pseudohypoparathyroidism, type ia	Enrichment	GNAS	1.61
437	Scoliosis, isolated 1	Enrichment	MAPK7	1.61
438	Amelogenesis imperfecta, type ig	Enrichment	PRKAR1A	1.61
439	Pituitary adenoma 4, acth-secreting	Enrichment	GNAI2	1.61
440	Cutis marmorata telangiectatica congenita	Enrichment	GNA11	1.61
441	Thumb deformity	Enrichment	CREBBP	1.61
442	Pseudopseudohypoparathyroidism	Enrichment	GNAS	1.61
443	Bleeding disorder, platelet-type, 19	Enrichment	PRKACG	1.61
444	Syndactyly, type iii	Enrichment	HDAC8	1.61
445	Marbach-schaaf neurodevelopmental syndrome	Enrichment	PRKAR1B	1.61
446	Menke-hennekam syndrome 2	Enrichment	EP300	1.61
447	Usher syndrome, type iv	Enrichment	PRKAR1A	1.61
448	Wilson-turner syndrome	Enrichment	HDAC8	1.61
449	Acute myeloid leukemia with kat6a-crebbp fusion	Enrichment	CREBBP	1.61
450	Autosomal dominant hypocalcemia	Enrichment	GNA11	1.61
451	Acrodysostosis	Enrichment	PRKAR1A	1.61
452	Pseudohypoparathyroidism	Enrichment	GNAS	1.61
453	46,xy sex reversal 3	Enrichment	GATA4	1.61
454	Body mass index quantitative trait locus 19	Enrichment	ADCY3	1.61
455	Fibrolamellar carcinoma	Enrichment	PRKACA	1.61
456	Ciliary dyskinesia, primary, 18	Enrichment	PRKAR1B	1.61
457	Hypopituitarism	Enrichment	GNAI2	1.61
458	Familial isolated congenital asplenia	Enrichment	NKX2-5	1.61
459	Isolated primary pigmented nodular adrenocortical disease	Enrichment	PRKAR1A	1.61
460	Deletion 5q35	Enrichment	NKX2-5	1.61
461	Acth-independent macronodular adrenal hyperplasia	Enrichment	GNAS	1.61
462	Phakomatosis cesioflammea	Enrichment	GNA11	1.61
463	Aortic aneurysm, familial thoracic 1	Enrichment	GATA4, MYLK	1.59
464	Congenital myopathy 4a, autosomal dominant	Enrichment	ACTA1, ITGA7	1.54
465	Hydrocephalus	Enrichment	FGFR2, PDGFRB	1.54
466	Lynch syndrome	Enrichment	KRAS, TGFBR2	1.54
467	Van der woude syndrome 1	Enrichment	CACNA1E	1.53
468	Ataxia-telangiectasia	Enrichment	BRAF	1.53
469	Gillespie syndrome	Enrichment	ITPR1	1.53
470	Nuchal bleb, familial	Enrichment	SOS1	1.53
471	Nasopharyngeal carcinoma	Enrichment	NFKBIA	1.53
472	Nephrotic syndrome, type 3	Enrichment	PLCE1	1.53
473	Immunodeficiency 14a with lymphoproliferation, autosomal dominant	Enrichment	PIK3R1	1.53
474	Miller-dieker lissencephaly syndrome	Enrichment	YWHAE	1.53
475	Chromosome 17p13.3, centromeric, duplication syndrome	Enrichment	YWHAE	1.53
476	Immunodeficiency 14	Enrichment	PIK3R1	1.53
477	Laryngeal squamous cell carcinoma	Enrichment	PTEN	1.53
478	Growth delay due to insulin-like growth factor i resistance	Enrichment	IGF1R	1.53
479	Melanoma of soft tissue	Enrichment	CREB1	1.53
480	Thyrotoxic periodic paralysis	Enrichment	CACNA1S	1.53
481	Beckwith-wiedemann syndrome due to imprinting defect of 11p15	Enrichment	IGF2	1.53
482	Hereditary episodic ataxia	Enrichment	CACNA1A	1.53
483	Cone-rod dystrophy 2	Enrichment	ATF6, CACNA1F, CACNA2D4, ITGA4	1.47
484	Leukemia, acute myeloid	Enrichment	JAK2, KRAS, NRAS	1.46
485	Familial atrial fibrillation	Enrichment	GATA4, NKX2-5	1.45
486	Leukocyte adhesion deficiency, type i	Enrichment	ITGB2	1.45
487	Myeloproliferative disorder, chronic, with eosinophilia	Enrichment	PDGFRB	1.45
488	Camurati-engelmann disease 1	Enrichment	TGFB1	1.45
489	Insensitivity to pain, congenital, with anhidrosis	Enrichment	NTRK1	1.45
490	Visceral neuropathy, familial, 1, autosomal recessive	Enrichment	ERBB3	1.45
491	Cervical cancer	Enrichment	FGFR3	1.45
492	Aortic aneurysm, familial thoracic 2	Enrichment	ACTA2	1.45
493	Microvascular complications of diabetes 5	Enrichment	TGFBR2	1.45
494	Hyperinsulinemic hypoglycemia, familial, 4	Enrichment	INSR	1.45
495	Aural atresia, congenital	Enrichment	FGFR2	1.45
496	Deafness, autosomal dominant 20	Enrichment	ACTG1	1.45
497	Keratosis, seborrheic	Enrichment	FGFR3	1.45
498	Smooth muscle dysfunction syndrome	Enrichment	ACTA2	1.45
499	Leukocyte adhesion deficiency, type iii	Enrichment	ITGB2	1.45
500	Aortic aneurysm, familial thoracic 6	Enrichment	ACTA2	1.45
501	Neuronopathy, distal hereditary motor, autosomal dominant 3	Enrichment	HSPB1	1.45
502	Baraitser-winter syndrome 2	Enrichment	ACTG1	1.45
503	Angioma, tufted	Enrichment	GNA14	1.45
504	Moyamoya disease 5	Enrichment	ACTA2	1.45
505	Night blindness, congenital stationary, type 1h	Enrichment	GNB3	1.45
506	Thrombocythemia 3	Enrichment	JAK2	1.45
507	Pain sensitivity quantitative trait locus 1	Enrichment	NTRK1	1.45
508	Antley-bixler syndrome without genital anomalies or disordered steroidogenesis	Enrichment	FGFR2	1.45
509	Intellectual developmental disorder, autosomal dominant 48	Enrichment	RAC1	1.45
510	Epidermolysis bullosa, junctional 5a, intermediate	Enrichment	ITGB4	1.45
511	Inflammatory bowel disease, immunodeficiency, and encephalopathy	Enrichment	TGFB1	1.45
512	Infantile myofibromatosis	Enrichment	PDGFRB	1.45
513	Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome	Enrichment	ITGA3	1.45
514	Split hand-foot malformation	Enrichment	FGFR2	1.45
515	Rosette-forming glioneuronal tumor	Enrichment	FGFR1	1.45
516	Congenital mesoblastic nephroma	Enrichment	NTRK3	1.45
517	Camurati-engelmann disease	Enrichment	TGFB1	1.45
518	Autoinflammation, immune dysregulation, and eosinophilia	Enrichment	JAK1	1.45
519	Cervix carcinoma	Enrichment	FGFR3	1.45
520	Fibrosarcoma	Enrichment	NTRK3	1.45
521	Lodder-merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia	Enrichment	GNB5	1.45
522	Polycythemia	Enrichment	JAK2	1.45
523	Interfrontal craniofaciosynostosis	Enrichment	FGFR1	1.45
524	Localized junctional epidermolysis bullosa, non-herlitz type	Enrichment	ITGB4	1.45
525	Autosomal dominant nonsyndromic deafness	Enrichment	FGFR2	1.45
526	Chronic eosinophilic leukemia	Enrichment	PDGFRA	1.45
527	Hypereosinophilic syndrome	Enrichment	JAK2	1.45
528	B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality	Enrichment	PDGFRA	1.45
529	Intestinal obstruction	Enrichment	ACTG2	1.45
530	Cerebral visual impairment	Enrichment	GNB1	1.45
531	Dandy-walker syndrome	Enrichment	BRAF, PDGFRB	1.44
532	Mccune-albright syndrome	Enrichment	GNAS	1.43
533	Frontometaphyseal dysplasia	Enrichment	MAP3K7	1.43
534	Intraocular pressure quantitative trait locus	Enrichment	CREBBP	1.43
535	Cushing syndrome due to bilateral macronodular adrenocortical disease	Enrichment	GNAS	1.43
536	Migraine, familial hemiplegic, 1	Enrichment	CACNA1A	1.41
537	Spinocerebellar ataxia 6	Enrichment	CACNA1A	1.41
538	Thyroid cancer, nonmedullary, 1	Enrichment	BRAF	1.41
539	Aland island eye disease	Enrichment	CACNA1F	1.41
540	Developmental and epileptic encephalopathy 2	Enrichment	CACNA1A	1.41
541	Neurofibromatosis-noonan syndrome	Enrichment	MAP2K2	1.41
542	Ventricular fibrillation, paroxysmal familial, 1	Enrichment	CACNA1C	1.41
543	Chromosome 22q11.2 deletion syndrome, distal	Enrichment	MAPK1	1.41
544	Focal cortical dysplasia, type ii	Enrichment	MTOR	1.41
545	Spinocerebellar ataxia 15	Enrichment	ITPR1	1.41
546	Developmental and epileptic encephalopathy 12	Enrichment	PLCB1	1.41
547	Developmental and epileptic encephalopathy 42	Enrichment	CACNA1A	1.41
548	Cerebellar atrophy with seizures and variable developmental delay	Enrichment	CACNA2D2	1.41
549	Developmental and epileptic encephalopathy 52	Enrichment	CACNA1A	1.41
550	Lung sarcomatoid carcinoma	Enrichment	KRAS	1.41
551	Craniopharyngioma	Enrichment	BRAF	1.41
552	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	Enrichment	YWHAZ	1.41
553	Pilocytic astrocytoma	Enrichment	KRAS	1.41
554	Newborn respiratory distress syndrome	Enrichment	BRAF	1.41
555	Epidermolytic nevus	Enrichment	HRAS	1.41
556	Malignant hyperthermia	Enrichment	CACNA1S	1.41
557	Episodic ataxia	Enrichment	CACNA1A	1.41
558	Familial or sporadic hemiplegic migraine	Enrichment	CACNA1A	1.41
559	Silver-russell syndrome due to a point mutation	Enrichment	IGF2	1.41
560	Isolated focal cortical dysplasia type ii	Enrichment	MTOR	1.41
561	Gingival fibromatosis	Enrichment	SOS1	1.41
562	Male infertility due to gonadal dysgenesis or sperm disorder	Enrichment	SOS2	1.41
563	Tetralogy of fallot	Enrichment	GATA4, NKX2-5	1.38
564	Gastric cancer	Enrichment	ERBB2, FGFR2, KRAS	1.38
565	Congenital myopathy	Enrichment	ACTA1, CACNA1S	1.35
566	Ehlers-danlos syndrome	Enrichment	TGFB2, TGFBR2	1.35
567	Eye disease	Enrichment	CACNA1F, CACNA2D4	1.33
568	Episodic ataxia, type 2	Enrichment	CACNA1A	1.31
569	Anemia, congenital, nonspherocytic hemolytic, 1	Enrichment	IKBKG	1.31
570	Macrocephaly/autism syndrome	Enrichment	PTEN	1.31
571	Heart conduction disease	Enrichment	CACNA1C	1.31
572	Amblyopia	Enrichment	CACNA1F	1.31
573	Cardiac arrest	Enrichment	CACNA2D1	1.31
574	Hemangioma	Enrichment	PTEN	1.31
575	Acute megakaryocytic leukemia	Enrichment	PTEN	1.31
576	Congenital short qt syndrome	Enrichment	CACNA2D1	1.31
577	Endometrial stromal sarcoma	Enrichment	YWHAE	1.31
578	Kaposi sarcoma	Enrichment	IL6	1.31
579	Pseudohypoparathyroidism, type ib	Enrichment	GNAS	1.31
580	Carney complex variant	Enrichment	PRKAR1A	1.31
581	Arrhythmogenic right ventricular dysplasia, familial, 10	Enrichment	PRKAR1A	1.31
582	Achromatopsia 4	Enrichment	GNAI3	1.31
583	Hereditary ataxia	Enrichment	PRKCG	1.31
584	Hereditary progressive cardiac conduction defect	Enrichment	NKX2-5	1.31
585	Transposition of the great arteries	Enrichment	GATA4	1.31
586	Systemic-onset juvenile idiopathic arthritis	Enrichment	IL6	1.31
587	Developmental and epileptic encephalopathy	Enrichment	CACNA1E, CACNA2D2	1.31
588	Craniosynostosis	Enrichment	FGFR2, FGFR3	1.31
589	Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency	Enrichment	JAK3	1.28
590	Achondroplasia	Enrichment	FGFR3	1.28
591	Hypogonadotropic hypogonadism 2 with or without anosmia	Enrichment	FGFR1	1.28
592	Larsen syndrome	Enrichment	FGFR3	1.28
593	Thyroid carcinoma, familial medullary	Enrichment	NTRK1	1.28
594	Polycythemia vera	Enrichment	JAK2	1.28
595	Aortic aneurysm, familial thoracic 7	Enrichment	MYLK	1.28
596	Muscular dystrophy, congenital, due to integrin alpha-7 deficiency	Enrichment	ITGA7	1.28
597	Chromosome 8p11 myeloproliferative syndrome	Enrichment	FGFR1	1.28
598	Neonatal nephrocutaneous inflammatory syndrome	Enrichment	EGFR	1.28
599	Epidermolysis bullosa, junctional 6, with pyloric atresia	Enrichment	ITGA6	1.28
600	Primary polycythemia	Enrichment	EPOR	1.28
601	Bacteremia 2	Enrichment	MAPKAPK3	1.28
602	Hyper ige syndrome	Enrichment	STAT3	1.28
603	Hamartoma	Enrichment	FGFR3	1.28
604	Testicular germ cell cancer	Enrichment	FGFR3	1.28
605	Bleeding disorder, platelet-type, 24	Enrichment	ITGB3	1.28
606	Neonatal inflammatory skin and bowel disease	Enrichment	EGFR	1.28
607	Alopecia - intellectual disability syndrome	Enrichment	ITGB6	1.28
608	Testicular cancer	Enrichment	FGFR3	1.28
609	Centronuclear myopathy	Enrichment	ACTA1, CACNA1S	1.27
610	Dilated cardiomyopathy	Enrichment	ACTA1, BRAF, NKX2-5, RAF1	1.25
611	Hypokalemic periodic paralysis, type 1	Enrichment	CACNA1S	1.24
612	Cowden syndrome 1	Enrichment	PTEN	1.24
613	Hemihyperplasia, isolated	Enrichment	IGF2	1.24
614	Wilms tumor 5	Enrichment	BRAF	1.24
615	Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy	Enrichment	CALM1	1.24
616	Spinocerebellar ataxia, autosomal recessive 16	Enrichment	ITPR1	1.24
617	Kidney clear cell sarcoma	Enrichment	YWHAE	1.24
618	Childhood absence epilepsy	Enrichment	CACNA1H	1.24
619	Capillary malformations, congenital	Enrichment	GNA11	1.22
620	Rheumatoid arthritis, systemic juvenile	Enrichment	IL6	1.22
621	Rubinstein-taybi syndrome 2	Enrichment	EP300	1.22
622	Ventricular septal defect 1	Enrichment	GATA4	1.22
623	Congenital heart defects, multiple types, 4	Enrichment	GATA4	1.22
624	Persistent truncus arteriosus	Enrichment	NKX2-5	1.22
625	Silver-russell syndrome 1	Enrichment	IGF2	1.17
626	Squamous cell carcinoma, head and neck	Enrichment	PTEN	1.17
627	Brugada syndrome 1	Enrichment	CACNA2D1	1.17
628	Renal cell carcinoma, papillary, 1	Enrichment	MTOR	1.17
629	Megacolon	Enrichment	AKT3	1.17
630	Common variable immunodeficiency	Enrichment	NFKB1	1.17
631	Amelogenesis imperfecta, type iiia	Enrichment	ITGB6	1.15
632	Nemaline myopathy 2	Enrichment	ACTA1	1.15
633	Spastic paraplegia 17, autosomal dominant	Enrichment	GNG3	1.15
634	Autoimmune lymphoproliferative syndrome	Enrichment	ACTA2	1.15
635	Budd-chiari syndrome	Enrichment	JAK2	1.15
636	Lipodystrophy, congenital generalized, type 2	Enrichment	GNG3	1.15
637	Epidermolysis bullosa simplex 5c, with pyloric atresia	Enrichment	ITGB4	1.15
638	Retinitis pigmentosa 26	Enrichment	ITGA4	1.15
639	Barrett esophagus	Enrichment	ERBB2	1.15
640	Aminoacylase 1 deficiency	Enrichment	ACTB	1.15
641	Aortic aneurysm	Enrichment	TGFBR1	1.15
642	Tuberculosis	Enrichment	MAPKAPK3	1.15
643	Adenosine deaminase deficiency	Enrichment	JAK3	1.15
644	Non-syndromic bicoronal craniosynostosis	Enrichment	FGFR3	1.15
645	Intermediate nemaline myopathy	Enrichment	ACTA1	1.15
646	Familial sick sinus syndrome	Enrichment	GNB2	1.15
647	Pseudomyogenic hemangioendothelioma	Enrichment	ACTB	1.15
648	Left ventricular noncompaction	Enrichment	NKX2-5, RAF1	1.15
649	Conotruncal heart malformations	Enrichment	NKX2-5	1.14
650	Type 1 diabetes mellitus	Enrichment	IL6	1.14
651	Renal tubular dysgenesis	Enrichment	AGT	1.14
652	Adrenocortical carcinoma	Enrichment	PRKAR1A	1.14
653	Double outlet right ventricle	Enrichment	NKX2-5	1.14
654	Hypertrichosis	Enrichment	CREBBP	1.14
655	Lymphoma, non-hodgkin, familial	Enrichment	BRAF	1.12
656	Alternating hemiplegia of childhood	Enrichment	CACNA1A	1.12
657	Catecholaminergic polymorphic ventricular tachycardia 1	Enrichment	CALM1	1.12
658	Difference of sex development	Enrichment	CACNA1A	1.12
659	Hydrops fetalis, nonimmune	Enrichment	ACTA1, HRAS	1.10
660	Hypothyroidism, congenital, nongoitrous, 2	Enrichment	NKX2-5	1.08
661	Myelofibrosis	Enrichment	SRC	1.08
662	Brachydactyly	Enrichment	GNAS	1.08
663	Strabismus	Enrichment	CACNA1A, GNB1	1.07
664	Cardiomyopathy, familial hypertrophic, 4	Enrichment	BRAF	1.07
665	Nephrotic syndrome, type 1	Enrichment	PLCE1	1.07
666	Coronary heart disease 5	Enrichment	IKBKG	1.07
667	Developmental and epileptic encephalopathy 14	Enrichment	PLCB1	1.07
668	Ventricular septal defect	Enrichment	BRAF	1.07
669	Neuronopathy, distal hereditary motor, autosomal dominant 2	Enrichment	HSPB1	1.06
670	Arrhythmogenic right ventricular dysplasia, familial, 1	Enrichment	TGFB3	1.06
671	Epidermolysis bullosa simplex 1c, localized	Enrichment	ITGB4	1.06
672	Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative	Enrichment	JAK3	1.06
673	Congenital myopathy 3 with rigid spine	Enrichment	ACTA1	1.06
674	Glanzmann thrombasthenia 2	Enrichment	ITGB3	1.06
675	Myeloproliferative neoplasm	Enrichment	JAK2	1.06
676	Holoprosencephaly	Enrichment	FGFR1	1.06
677	Epidermolysis bullosa	Enrichment	ITGA6	1.06
678	Arrhythmogenic right ventricular dysplasia 1	Enrichment	TGFB3	1.06
679	Aplasia cutis congenita	Enrichment	ITGB4	1.06
680	Coloboma of choroid and retina	Enrichment	ACTG1	1.06
681	Severe congenital nemaline myopathy	Enrichment	ACTA1	1.06
682	Familial cerebral saccular aneurysm	Enrichment	TGFBR3	1.06
683	Primary ovarian insufficiency	Enrichment	EIF2B2, JAK2, NTRK1	1.05
684	Autism spectrum disorder	Enrichment	MAP2K1, MEF2C, PTEN	1.03
685	Ciliary dyskinesia, primary, 3	Enrichment	NFKB1	1.02
686	Polymicrogyria	Enrichment	AKT3	1.02
687	Autosomal non-syndromic agammaglobulinemia	Enrichment	PIK3R1	1.02
688	Hirschsprung disease 1	Enrichment	ERBB2, ERBB3	1.02
689	Severe covid-19	Enrichment	ITGAV, JAK3	1.02
690	Spastic paraplegia 4, autosomal dominant	Enrichment	GNAS	1.02
691	Fanconi anemia, complementation group c	Enrichment	HDAC8	1.02
692	Hypoplastic left heart syndrome	Enrichment	NKX2-5	1.02
693	Atrial septal defect 1	Enrichment	TGFB2	0.99
694	Epidermolysis bullosa, junctional 1a, intermediate	Enrichment	ITGB4	0.99
695	Split-hand/foot malformation 1	Enrichment	FGFR2	0.99
696	Holoprosencephaly 1	Enrichment	FGFR1	0.99
697	Moyamoya disease 1	Enrichment	ACTA2	0.99
698	Testicular germ cell tumor	Enrichment	FGFR3	0.99
699	Inflammatory bowel disease 25, autosomal recessive	Enrichment	TGFB1	0.99
700	Familial adult myoclonic epilepsy	Enrichment	ADRA2B	0.99
701	Junctional epidermolysis bullosa non-herlitz type	Enrichment	ITGB4	0.99
702	Intestinal pseudo-obstruction	Enrichment	ACTG2	0.99
703	Il10-related early-onset inflammatory bowel disease	Enrichment	TGFB1	0.99
704	Classic ehlers-danlos syndrome	Enrichment	TGFBR1	0.99
705	Typical nemaline myopathy	Enrichment	ACTA1	0.99
706	Migraine with or without aura 1	Enrichment	CACNA1A	0.99
707	Epilepsy, myoclonic juvenile	Enrichment	CACNB4	0.99
708	Epilepsy, idiopathic generalized	Enrichment	CACNA1H	0.99
709	Meningioma, familial	Enrichment	PTEN	0.99
710	Uterine corpus cancer	Enrichment	PTEN	0.99
711	Cornelia de lange syndrome 1	Enrichment	HDAC8	0.97
712	Charge syndrome	Enrichment	EP300	0.97
713	Cornelia de lange syndrome	Enrichment	HDAC8	0.97
714	Cardiac conduction defect	Enrichment	CACNA1C	0.95
715	Congenital long qt syndrome	Enrichment	ITPR3	0.95
716	Cystic fibrosis	Enrichment	EDNRA, TGFB1	0.95
717	Stroke, ischemic	Enrichment	PRKCH	0.93
718	Esophageal cancer	Enrichment	TGFBR2	0.92
719	Gastrointestinal stromal tumor	Enrichment	PDGFRA	0.92
720	Neuropathy, hereditary sensory and autonomic, type v	Enrichment	NTRK1	0.92
721	Essential thrombocythemia	Enrichment	JAK2	0.92
722	Epidermolysis bullosa simplex	Enrichment	ITGB4	0.92
723	Childhood-onset nemaline myopathy	Enrichment	ACTA1	0.92
724	Premature menopause	Enrichment	EIF2B2	0.92
725	Chromosome 1p36 deletion syndrome	Enrichment	PRKCZ	0.92
726	Protein-deficiency anemia	Enrichment	NRAS	0.92
727	Cakut	Enrichment	ACTG1, LIFR	0.91
728	Body mass index quantitative trait locus 11	Enrichment	ADCY3, GNAS	0.89
729	46,xy complete gonadal dysgenesis	Enrichment	MAP3K1	0.89
730	Multiple sclerosis	Enrichment	ITPR1	0.89
731	Dystonia	Enrichment	GNAL, GNB1	0.88
732	Glioma susceptibility 1	Enrichment	ERBB2	0.87
733	Basal ganglia calcification, idiopathic, 1	Enrichment	PDGFRB	0.87
734	Renal hypodysplasia/aplasia 1	Enrichment	ITGA8	0.87
735	Hypothyroidism	Enrichment	GNB1	0.87
736	Permanent neonatal diabetes mellitus	Enrichment	STAT3	0.87
737	Renal cell carcinoma, nonpapillary	Enrichment	MTOR	0.86
738	Myopia	Enrichment	CACNA1F	0.86
739	Anterior segment dysgenesis	Enrichment	ITPR1	0.86
740	Familial isolated dilated cardiomyopathy	Enrichment	HAND2, RAF1	0.85
741	Leukemia, acute lymphoblastic 3	Enrichment	JAK2	0.82
742	Hypogonadotropic hypogonadism	Enrichment	FGFR1	0.82
743	Familial thoracic aortic aneurysm and dissection	Enrichment	MYLK	0.82
744	Renal agenesis, bilateral	Enrichment	ITGA8	0.82
745	Melanoma, cutaneous malignant 1	Enrichment	BRAF	0.81
746	Sudden infant death syndrome	Enrichment	CALM2	0.81
747	Osteoporosis	Enrichment	SRC	0.79
748	Beckwith-wiedemann syndrome	Enrichment	IGF2	0.79
749	Cat eye syndrome	Enrichment	ACTG1	0.78
750	Meier-gorlin syndrome 1	Enrichment	FGFR2	0.78
751	Amelogenesis imperfecta, type ie	Enrichment	ITGB6	0.78
752	Nemaline myopathy	Enrichment	ACTA1	0.78
753	Achromatopsia	Enrichment	ATF6	0.78
754	Primary bone dysplasia	Enrichment	FGFR3	0.78
755	Polydactyly, postaxial, type a1	Enrichment	EP300	0.77
756	Corpus callosum, agenesis of	Enrichment	CREBBP	0.77
757	Isolated corpus callosum agenesis	Enrichment	CREBBP	0.77
758	Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome	Enrichment	CREBBP	0.77
759	Focal segmental glomerulosclerosis	Enrichment	PLCE1	0.74
760	Nephrotic syndrome	Enrichment	ITGA3, PLCE1	0.74
761	Pectus excavatum	Enrichment	TGFBR1	0.74
762	Leukemia, acute lymphoblastic	Enrichment	GNB1	0.74
763	Myelodysplastic syndrome	Enrichment	GNB1	0.74
764	Osteochondrodysplasia	Enrichment	FGFR3	0.74
765	West syndrome	Enrichment	NTRK2, PLCB1	0.73
766	Cardiomyopathy, dilated, 1a	Enrichment	NFATC2	0.73
767	Endometrial cancer	Enrichment	PTEN	0.73
768	Hypertension, essential	Enrichment	AGT	0.72
769	Septooptic dysplasia	Enrichment	FGFR1	0.71
770	Renal hypodysplasia/aplasia 3	Enrichment	FGFR3	0.71
771	Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant	Enrichment	TGFB3	0.71
772	Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant	Enrichment	TGFB3	0.71
773	Polycystic kidney disease	Enrichment	HDAC8	0.69
774	Brittle bone disorder	Enrichment	EIF2B2	0.69
775	Malaria	Enrichment	IKBKG	0.69
776	Neural tube defects	Enrichment	ITGB1	0.68
777	Cone dystrophy	Enrichment	CACNA2D4	0.67
778	Thrombocytopenia	Enrichment	ITGA2B, ITGB3	0.67
779	Pancreatic cancer	Enrichment	KRAS	0.66
780	Hypogonadotropic hypogonadism 7 with or without anosmia	Enrichment	FGFR1	0.65
781	Cleft lip/palate	Enrichment	PDGFRA	0.65
782	Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant	Enrichment	TGFB3	0.65
783	Isolated macular dystrophy	Enrichment	ITGA4	0.65
784	Autism	Enrichment	CAMK2G, CREBBP	0.65
785	Auditory neuropathy	Enrichment	CACNA1A	0.64
786	Prostate cancer	Enrichment	PTEN	0.60
787	Microform holoprosencephaly	Enrichment	FGFR1	0.60
788	Lobar holoprosencephaly	Enrichment	FGFR1	0.60
789	Scoliosis	Enrichment	CREBBP	0.58
790	Cleft palate, isolated	Enrichment	GNB1	0.58
791	Neuromuscular disease	Enrichment	ACTA1	0.55
792	Semilobar holoprosencephaly	Enrichment	FGFR1	0.55
793	Normosmic congenital hypogonadotropic hypogonadism	Enrichment	FGFR1	0.55
794	Familial hypertrophic cardiomyopathy	Enrichment	RAF1	0.55
795	Severe combined immunodeficiency	Enrichment	IKBKB	0.55
796	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	Enrichment	ERBB4, MEF2C	0.55
797	Genetic steroid-resistant nephrotic syndrome	Enrichment	PLCE1	0.54
798	Lissencephaly	Enrichment	ACTG1	0.50
799	Hepatoblastoma	Enrichment	FGFR3	0.50
800	Attention deficit-hyperactivity disorder	Enrichment	GNB5	0.48
801	Myocardial infarction	Enrichment	ITGB3	0.48
802	Visceral heterotaxy	Enrichment	LEFTY2	0.48
803	Tooth agenesis	Enrichment	FGFR1	0.48
804	Skin disease	Enrichment	ITGB4	0.48
805	Benign epilepsy with centrotemporal spikes	Enrichment	PLCB1	0.48
806	Kallmann syndrome	Enrichment	FGFR1	0.47
807	Centralopathic epilepsy	Enrichment	PLCB1	0.46
808	Optic atrophy plus syndrome	Enrichment	CACNA1F	0.45
809	Complex neurodevelopmental disorder	Enrichment	CACNA1C, GNB2, RAC3	0.41
810	Inherited cancer-predisposing syndrome	Enrichment	EGFR, PDGFRA, PRKAR1A	0.37
811	Non-syndromic x-linked intellectual disability	Enrichment	AGTR2	0.32
812	Non-syndromic genetic deafness	Enrichment	ACTG1	0.32
813	Fetal akinesia deformation sequence 1	Enrichment	ACTA1	0.31
814	Male infertility with azoospermia or oligozoospermia due to single gene mutation	Enrichment	GATA4	0.30
815	Systemic lupus erythematosus	Enrichment	ITGAM	0.29
816	Myopathy	Enrichment	ACTA1	0.29
817	Charcot-marie-tooth disease	Enrichment	HSPB1	0.28
818	Distal arthrogryposis	Enrichment	ACTA1	0.27
819	Nonsyndromic hearing loss	Enrichment	ACTG1	0.27
820	Hypertelorism	Enrichment	FGFR2	0.21
821	Rare autosomal dominant non-syndromic sensorineural deafness type dfna	Enrichment	ACTG1	0.21
822	Primary ciliary dyskinesia	Enrichment	PRKAR1B	0.21
823	Retinitis pigmentosa	Enrichment	CACNA1F, CACNA2D4	0.21
824	Rare autosomal recessive non-syndromic sensorineural deafness type dfnb	Enrichment	ADCY1	0.17
825	Rare genetic deafness	Enrichment	ACTG1	0.12
826	Hereditary retinal dystrophy	Enrichment	ATF6, CACNA1F, CACNA2D4, ITGA4	0.11
827	Fundus dystrophy	Enrichment	ATF6, CACNA1F, CACNA2D4, ITGA4	0.11

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

NFAT and Cardiac Hypertrophy

Pathway Network for NFAT and Cardiac Hypertrophy

Pathway network for the NFAT and Cardiac Hypertrophy SuperPath

Member Pathways for NFAT and Cardiac Hypertrophy

Pathways in the NFAT and Cardiac Hypertrophy SuperPath

Gene overlap in member pathways for NFAT and Cardiac Hypertrophy SuperPath

Associated Genes for NFAT and Cardiac Hypertrophy

Associated Disorders for NFAT and Cardiac Hypertrophy

Disorders associated with NFAT and Cardiac Hypertrophy SuperPath

STRING Interaction Network for NFAT and Cardiac Hypertrophy

Sources for NFAT and Cardiac Hypertrophy