Development Ligand-independent activation of ESR1 and ESR2

Pathway network for the Development Ligand-independent activation of ESR1 and ESR2 SuperPath

Sources:

GeneGo (Thomson Reuters)

Pathways in the Development Ligand-independent activation of ESR1 and ESR2 SuperPath

#	Name	Source	Genes
1	Development Ligand-independent activation of ESR1 and ESR2	GeneGo (Thomson Reuters)	ADCY5 ADRB1 ADRB2 ADRB3 AKT1 AKT2 AKT3 CAV1 CCND1 CREBBP DRD1 DRD5 EGF EGFR EP300 ERBB2 ERBB3 ESR1 ESR2 GNAS GRB2 HRAS HRH1 HRH2 HTR4 HTR6 HTR7 IGF1 IGF1R IRS1 MAP2K1 MAP2K2 MAPK1 MAPK3 NCOA1 NCOA2 NCOA3 NRG1 PDPK1 PIK3CA PIK3CB PIK3CD PIK3R1 PIK3R2 PIK3R3 PRKACA PRKACB PRKACG PRKAR1A PRKAR1B PRKAR2A PRKAR2B RAF1 RPS6KA1 SHC1 SOS1 SOS2 TFF1 (see all 58) (see less)
2	Transcription CREB pathway	GeneGo (Thomson Reuters)	ADCY1 ADRB1 ADRB2 ADRB3 AKT1 AKT2 AKT3 CACNA1A CACNA1B CACNA1C CACNA1D CACNA1E CACNA1F CACNA1G CACNA1H CACNA1I CACNA1S CACNA2D1 CACNA2D2 CACNA2D3 CACNA2D4 CACNB1 CACNB2 CACNB3 CACNB4 CACNG1 CACNG2 CACNG3 CACNG4 CACNG5 CACNG6 CACNG7 CACNG8 CALM1 CALM2 CALM3 CAMK2A CAMK2B CAMK2D CAMK2G CAMK4 CCND1 CDO1 CREB1 DRD1 DRD5 GNAS GRB2 HPD HRAS HRH1 HRH2 HTR4 HTR6 HTR7 IGF1R IRS1 KCNIP3 LDHA MAP2K1 MAP2K3 MAP2K6 MAP3K11 MAPK1 MAPK11 MAPK12 MAPK13 MAPK14 MAPK3 PDPK1 PDYN PIK3CA PIK3CB PIK3CD PIK3R1 PIK3R2 PIK3R3 PPP1CA PPP1CB PPP1CC PPP2CA PPP2CB PRKACA PRKACB PRKACG PRKAR1A PRKAR1B PRKAR2A PRKAR2B PRKCA PRKCB PRKCG RAC1 RAF1 RPS6KA1 RPS6KA2 RPS6KA3 RPS6KA4 RPS6KA5 SHC1 SOS1 SOS2 (see all 102) (see less)
3	Transcription PPAR Pathway	GeneGo (Thomson Reuters)	ADCY1 AKT1 AKT2 AKT3 GNAS GRB2 HRAS INSR IRS1 MAP2K1 MAP2K3 MAP2K6 MAP3K7 MAPK1 MAPK11 MAPK12 MAPK13 MAPK14 MAPK3 MED1 NCOA1 NCOR1 NCOR2 NR0B2 PDGFRA PDGFRB PIK3CA PIK3CB PIK3CD PIK3R1 PIK3R2 PIK3R3 PPARA PPARD PPARG PRKACA PRKACB PRKACG PRKAR1A PRKAR1B PRKAR2A PRKAR2B PTGIS PTGS2 RAF1 RXRA SHC1 SOS1 SOS2 TGFBR1 XIAP (see all 51) (see less)

Gene overlap in member pathways for Development Ligand-independent activation of ESR1 and ESR2 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	AKT2	AKT Serine/Threonine Kinase 2	Protein Coding	3
3	GNAS	GNAS Complex Locus	Protein Coding	3
4	GRB2	Growth Factor Receptor Bound Protein 2	Protein Coding	3
5	HRAS	HRas Proto-Oncogene, GTPase	Protein Coding	3
6	IRS1	Insulin Receptor Substrate 1	Protein Coding	3
7	PIK3CA	Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha	Protein Coding	3
8	PIK3CB	Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Beta	Protein Coding	3
9	PIK3CD	Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Delta	Protein Coding	3
10	PIK3R1	Phosphoinositide-3-Kinase Regulatory Subunit 1	Protein Coding	3
11	PIK3R2	Phosphoinositide-3-Kinase Regulatory Subunit 2	Protein Coding	3
12	PRKACA	Protein Kinase CAMP-Activated Catalytic Subunit Alpha	Protein Coding	3
13	PRKACB	Protein Kinase CAMP-Activated Catalytic Subunit Beta	Protein Coding	3
14	PRKACG	Protein Kinase CAMP-Activated Catalytic Subunit Gamma	Protein Coding	3
15	PRKAR1A	Protein Kinase CAMP-Dependent Type I Regulatory Subunit Alpha	Protein Coding	3
16	PRKAR1B	Protein Kinase CAMP-Dependent Type I Regulatory Subunit Beta	Protein Coding	3
17	PRKAR2A	Protein Kinase CAMP-Dependent Type II Regulatory Subunit Alpha	Protein Coding	3
18	PRKAR2B	Protein Kinase CAMP-Dependent Type II Regulatory Subunit Beta	Protein Coding	3
19	MAPK1	Mitogen-Activated Protein Kinase 1	Protein Coding	3
20	MAPK3	Mitogen-Activated Protein Kinase 3	Protein Coding	3
21	MAP2K1	Mitogen-Activated Protein Kinase Kinase 1	Protein Coding	3
22	RAF1	Raf-1 Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	3
23	SHC1	SHC Adaptor Protein 1	Protein Coding	3
24	SOS1	SOS Ras/Rac Guanine Nucleotide Exchange Factor 1	Protein Coding	3
25	SOS2	SOS Ras/Rho Guanine Nucleotide Exchange Factor 2	Protein Coding	3
26	PIK3R3	Phosphoinositide-3-Kinase Regulatory Subunit 3	Protein Coding	3
27	AKT3	AKT Serine/Threonine Kinase 3	Protein Coding	3
28	ADRB1	Adrenoceptor Beta 1	Protein Coding	2
29	ADRB2	Adrenoceptor Beta 2	Protein Coding	2
30	ADRB3	Adrenoceptor Beta 3	Protein Coding	2
31	CCND1	Cyclin D1	Protein Coding	2
32	DRD1	Dopamine Receptor D1	Protein Coding	2
33	DRD5	Dopamine Receptor D5	Protein Coding	2
34	HRH1	Histamine Receptor H1	Protein Coding	2
35	HRH2	Histamine Receptor H2	Protein Coding	2
36	HTR4	5-Hydroxytryptamine Receptor 4	Protein Coding	2
37	HTR6	5-Hydroxytryptamine Receptor 6	Protein Coding	2
38	HTR7	5-Hydroxytryptamine Receptor 7	Protein Coding	2
39	IGF1R	Insulin Like Growth Factor 1 Receptor	Protein Coding	2
40	PDPK1	3-Phosphoinositide Dependent Protein Kinase 1	Protein Coding	2
41	RPS6KA1	Ribosomal Protein S6 Kinase A1	Protein Coding	2
42	NCOA1	Nuclear Receptor Coactivator 1	Protein Coding	2
43	ADCY1	Adenylate Cyclase 1	Protein Coding	2
44	MAPK14	Mitogen-Activated Protein Kinase 14	Protein Coding	2
45	MAPK11	Mitogen-Activated Protein Kinase 11	Protein Coding	2
46	MAPK13	Mitogen-Activated Protein Kinase 13	Protein Coding	2
47	MAP2K3	Mitogen-Activated Protein Kinase Kinase 3	Protein Coding	2
48	MAP2K6	Mitogen-Activated Protein Kinase Kinase 6	Protein Coding	2
49	MAPK12	Mitogen-Activated Protein Kinase 12	Protein Coding	2
50	ADCY5	Adenylate Cyclase 5	Protein Coding	1
51	CAV1	Caveolin 1	Protein Coding	1
52	CREBBP	CREB Binding Lysine Acetyltransferase	Protein Coding	1
53	EGF	Epidermal Growth Factor	Protein Coding	1
54	EGFR	Epidermal Growth Factor Receptor	Protein Coding	1
55	EP300	EP300 Lysine Acetyltransferase	Protein Coding	1
56	ERBB2	Erb-B2 Receptor Tyrosine Kinase 2	Protein Coding	1
57	ERBB3	Erb-B2 Receptor Tyrosine Kinase 3	Protein Coding	1
58	ESR1	Estrogen Receptor 1	Protein Coding	1
59	ESR2	Estrogen Receptor 2	Protein Coding	1
60	NRG1	Neuregulin 1	Protein Coding	1
61	IGF1	Insulin Like Growth Factor 1	Protein Coding	1
62	MAP2K2	Mitogen-Activated Protein Kinase Kinase 2	Protein Coding	1
63	TFF1	Trefoil Factor 1	Protein Coding	1
64	NCOA3	Nuclear Receptor Coactivator 3	Protein Coding	1
65	NCOA2	Nuclear Receptor Coactivator 2	Protein Coding	1
66	CACNA1A	Calcium Voltage-Gated Channel Subunit Alpha1 A	Protein Coding	1
67	CACNA1B	Calcium Voltage-Gated Channel Subunit Alpha1 B	Protein Coding	1
68	CACNA1C	Calcium Voltage-Gated Channel Subunit Alpha1 C	Protein Coding	1
69	CACNA1D	Calcium Voltage-Gated Channel Subunit Alpha1 D	Protein Coding	1
70	CACNA1E	Calcium Voltage-Gated Channel Subunit Alpha1 E	Protein Coding	1
71	CACNA1F	Calcium Voltage-Gated Channel Subunit Alpha1 F	Protein Coding	1
72	CACNA1S	Calcium Voltage-Gated Channel Subunit Alpha1 S	Protein Coding	1
73	CACNA2D1	Calcium Voltage-Gated Channel Auxiliary Subunit Alpha2delta 1	Protein Coding	1
74	CACNB1	Calcium Voltage-Gated Channel Auxiliary Subunit Beta 1	Protein Coding	1
75	CACNB2	Calcium Voltage-Gated Channel Auxiliary Subunit Beta 2	Protein Coding	1
76	CACNB3	Calcium Voltage-Gated Channel Auxiliary Subunit Beta 3	Protein Coding	1
77	CACNB4	Calcium Voltage-Gated Channel Auxiliary Subunit Beta 4	Protein Coding	1
78	CACNG1	Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 1	Protein Coding	1
79	CALM1	Calmodulin 1	Protein Coding	1
80	CALM2	Calmodulin 2	Protein Coding	1
81	CALM3	Calmodulin 3	Protein Coding	1
82	CAMK4	Calcium/Calmodulin Dependent Protein Kinase IV	Protein Coding	1
83	CAMK2A	Calcium/Calmodulin Dependent Protein Kinase II Alpha	Protein Coding	1
84	CAMK2B	Calcium/Calmodulin Dependent Protein Kinase II Beta	Protein Coding	1
85	CAMK2D	Calcium/Calmodulin Dependent Protein Kinase II Delta	Protein Coding	1
86	CAMK2G	Calcium/Calmodulin Dependent Protein Kinase II Gamma	Protein Coding	1
87	CDO1	Cysteine Dioxygenase Type 1	Protein Coding	1
88	CREB1	CAMP Responsive Element Binding Protein 1	Protein Coding	1
89	HPD	4-Hydroxyphenylpyruvate Dioxygenase	Protein Coding	1
90	LDHA	Lactate Dehydrogenase A	Protein Coding	1
91	MAP3K11	Mitogen-Activated Protein Kinase Kinase Kinase 11	Protein Coding	1
92	PDYN	Prodynorphin	Protein Coding	1
93	PPP1CA	Protein Phosphatase 1 Catalytic Subunit Alpha	Protein Coding	1
94	PPP1CB	Protein Phosphatase 1 Catalytic Subunit Beta	Protein Coding	1
95	PPP1CC	Protein Phosphatase 1 Catalytic Subunit Gamma	Protein Coding	1
96	PPP2CA	Protein Phosphatase 2 Catalytic Subunit Alpha	Protein Coding	1
97	PPP2CB	Protein Phosphatase 2 Catalytic Subunit Beta	Protein Coding	1
98	PRKCA	Protein Kinase C Alpha	Protein Coding	1
99	PRKCB	Protein Kinase C Beta	Protein Coding	1
100	PRKCG	Protein Kinase C Gamma	Protein Coding	1
101	RAC1	Rac Family Small GTPase 1	Protein Coding	1
102	RPS6KA2	Ribosomal Protein S6 Kinase A2	Protein Coding	1
103	RPS6KA3	Ribosomal Protein S6 Kinase A3	Protein Coding	1
104	CACNA1I	Calcium Voltage-Gated Channel Subunit Alpha1 I	Protein Coding	1
105	CACNA1H	Calcium Voltage-Gated Channel Subunit Alpha1 H	Protein Coding	1
106	CACNA1G	Calcium Voltage-Gated Channel Subunit Alpha1 G	Protein Coding	1
107	RPS6KA4	Ribosomal Protein S6 Kinase A4	Protein Coding	1
108	RPS6KA5	Ribosomal Protein S6 Kinase A5	Protein Coding	1
109	CACNA2D2	Calcium Voltage-Gated Channel Auxiliary Subunit Alpha2delta 2	Protein Coding	1
110	CACNG3	Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 3	Protein Coding	1
111	CACNG2	Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 2	Protein Coding	1
112	CACNG5	Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 5	Protein Coding	1
113	CACNG4	Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 4	Protein Coding	1
114	KCNIP3	Potassium Voltage-Gated Channel Interacting Protein 3	Protein Coding	1
115	CACNA2D3	Calcium Voltage-Gated Channel Auxiliary Subunit Alpha2delta 3	Protein Coding	1
116	CACNG8	Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 8	Protein Coding	1
117	CACNG7	Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 7	Protein Coding	1
118	CACNG6	Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 6	Protein Coding	1
119	CACNA2D4	Calcium Voltage-Gated Channel Auxiliary Subunit Alpha2delta 4	Protein Coding	1
120	XIAP	X-Linked Inhibitor Of Apoptosis	Protein Coding	1
121	INSR	Insulin Receptor	Protein Coding	1
122	PDGFRA	Platelet Derived Growth Factor Receptor Alpha	Protein Coding	1
123	PDGFRB	Platelet Derived Growth Factor Receptor Beta	Protein Coding	1
124	PPARA	Peroxisome Proliferator Activated Receptor Alpha	Protein Coding	1
125	PPARD	Peroxisome Proliferator Activated Receptor Delta	Protein Coding	1
126	PPARG	Peroxisome Proliferator Activated Receptor Gamma	Protein Coding	1
127	MED1	Mediator Complex Subunit 1	Protein Coding	1
128	PTGIS	Prostaglandin I2 Synthase	Protein Coding	1
129	PTGS2	Prostaglandin-Endoperoxide Synthase 2	Protein Coding	1
130	RXRA	Retinoid X Receptor Alpha	Protein Coding	1
131	MAP3K7	Mitogen-Activated Protein Kinase Kinase Kinase 7	Protein Coding	1
132	TGFBR1	Transforming Growth Factor Beta Receptor 1	Protein Coding	1
133	NR0B2	Nuclear Receptor Subfamily 0 Group B Member 2	Protein Coding	1
134	NCOR1	Nuclear Receptor Corepressor 1	Protein Coding	1
135	NCOR2	Nuclear Receptor Corepressor 2	Protein Coding	1

Disorders associated with Development Ligand-independent activation of ESR1 and ESR2 SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Noonan syndrome 1	Enrichment	HRAS, MAP2K1, MAP2K2, RAF1, SOS1, SOS2	9.35
2	Lung non-small cell carcinoma	Enrichment	EGFR, ERBB2, HRAS, MAP2K1, PIK3CA	9.26
3	Rasopathy	Enrichment	HRAS, MAP2K1, MAP2K2, RAF1, SOS1, SOS2	9.00
4	Noonan syndrome and noonan-related syndrome	Enrichment	HRAS, MAP2K1, MAP2K2, RAF1, SOS1	8.46
5	Bladder cancer	Enrichment	EGFR, ERBB2, ERBB3, HRAS, PIK3CA	6.88
6	Megalencephaly-capillary malformation-polymicrogyria syndrome	Enrichment	AKT3, PIK3CA, PIK3R2	6.70
7	Noonan syndrome 3	Enrichment	HRAS, RAF1, SOS1	5.76
8	Colorectal cancer	Enrichment	AKT1, CCND1, EP300, ERBB2, PIK3CA, PIK3R1	5.74
9	Arteriovenous malformation	Enrichment	HRAS, MAP2K1, PIK3CA	5.38
10	Myopathy, x-linked, with excessive autophagy	Enrichment	HRAS, MAP2K1, PIK3CA	5.23
11	Pigmented nodular adrenocortical disease, primary, 1	Enrichment	GNAS, PRKAR1A	4.86
12	Lip and oral cavity carcinoma	Enrichment	EGFR, HRAS, PIK3CA	4.80
13	Type 2 diabetes mellitus	Enrichment	AKT2, INSR, IRS1, PPARG	4.75
14	Catecholaminergic polymorphic ventricular tachycardia	Enrichment	CALM1, CALM2, CALM3	4.65
15	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	Enrichment	PIK3CA, PIK3R1	4.38
16	Immunodeficiency 14a with lymphoproliferation, autosomal dominant	Enrichment	PIK3CD, PIK3R1	4.38
17	Immunodeficiency 14	Enrichment	PIK3CD, PIK3R1	4.38
18	Long qt syndrome 1	Enrichment	CACNA1C, CALM1, CALM2, CALM3	4.15
19	Long qt syndrome	Enrichment	CACNA1C, CACNA1S, CALM1, CALM2	4.09
20	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Enrichment	AKT3, PIK3R2	4.08
21	Cardiofaciocutaneous syndrome 1	Enrichment	MAP2K1, MAP2K2	3.97
22	Cardiofaciocutaneous syndrome	Enrichment	MAP2K1, MAP2K2	3.97
23	Hemimegalencephaly	Enrichment	AKT3, PIK3CA	3.86
24	Primary hypereosinophilic syndrome	Enrichment	PDGFRA, PDGFRB	3.86
25	Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures	Enrichment	CACNA1A, CACNA1C	3.78
26	Insulin-like growth factor i	Enrichment	IGF1, IGF1R	3.75
27	Breast adenocarcinoma	Enrichment	AKT1, PIK3CA	3.69
28	Cowden syndrome 1	Enrichment	EGFR, PIK3CA	3.57
29	Rubinstein-taybi syndrome 1	Enrichment	CREBBP, EP300	3.57
30	Chromosome 16p13.3 deletion syndrome, proximal	Enrichment	CREBBP, EP300	3.57
31	Lung squamous cell carcinoma	Enrichment	EGFR, PIK3CA	3.57
32	Nevus, epidermal	Enrichment	HRAS, PIK3CA	3.54
33	Capillary malformation-arteriovenous malformation 1	Enrichment	MAP2K1, PIK3CA	3.54
34	Breast cancer	Enrichment	AKT1, ESR1, PIK3CA, SHC1	3.54
35	Lung cancer	Enrichment	EGFR, ERBB2, PIK3CA	3.47
36	Melanocytic nevus syndrome, congenital	Enrichment	HRAS, RAF1	3.42
37	Ellis-van creveld syndrome	Enrichment	PRKACA, PRKACB	3.31
38	Cowden syndrome	Enrichment	AKT1, PIK3CA	3.31
39	Autosomal dominant non-syndromic intellectual disability	Enrichment	CACNA1I, CACNG2, CAMK2A, CAMK2B	3.27
40	Autosomal non-syndromic agammaglobulinemia	Enrichment	PIK3CD, PIK3R1	3.21
41	Adult hepatocellular carcinoma	Enrichment	EGF, PIK3CA	3.20
42	Body mass index quantitative trait locus 11	Enrichment	GNAS, NR0B2, PPARG	3.06
43	Hereditary breast carcinoma	Enrichment	AKT1, ESR1, PIK3CA	3.06
44	Meningioma	Enrichment	AKT1, PIK3CA	3.05
45	Ovarian cancer	Enrichment	AKT1, EGFR, ERBB2, PIK3CA	3.04
46	Brugada syndrome	Enrichment	CACNA1C, CACNA2D1, CACNB2	3.02
47	Myeloma, multiple	Enrichment	NCOR2, PIK3R2, RXRA	2.92
48	Nk-cell enteropathy	Enrichment	IGF1R, PIK3CB	2.87
49	Lung cancer susceptibility 3	Enrichment	EGFR, ERBB2	2.80
50	Rare genetic intellectual disability	Enrichment	CREBBP, EP300	2.74
51	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	Enrichment	CACNA1C, RAC1	2.71
52	Primary hyperaldosteronism	Enrichment	CACNA1H, GNAS	2.71
53	Specific learning disability	Enrichment	MAPK1, RPS6KA3	2.53
54	Macrodactyly	Enrichment	PIK3CA	2.42
55	Proteus syndrome	Enrichment	AKT1	2.42
56	Acrodysostosis 1 with or without hormone resistance	Enrichment	PRKAR1A	2.42
57	Cardiospondylocarpofacial syndrome	Enrichment	MAP3K7	2.42
58	Hypoinsulinemic hypoglycemia with hemihypertrophy	Enrichment	AKT2	2.42
59	Donohue syndrome	Enrichment	INSR	2.42
60	Premature aging syndrome, penttinen type	Enrichment	PDGFRB	2.42
61	Lymphoproliferative syndrome, x-linked, 2	Enrichment	XIAP	2.42
62	Hyperinsulinemic hypoglycemia, familial, 5	Enrichment	INSR	2.42
63	Noonan syndrome 5	Enrichment	RAF1	2.42
64	Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities	Enrichment	INSR	2.42
65	Diabetes mellitus, insulin-resistant, with acanthosis nigricans	Enrichment	INSR	2.42
66	Noonan syndrome 4	Enrichment	SOS1	2.42
67	Pseudohypoparathyroidism, type ic	Enrichment	GNAS	2.42
68	Hypereosinophilic syndrome, idiopathic	Enrichment	PDGFRA	2.42
69	Carney complex, type 1	Enrichment	PRKAR1A	2.42
70	Melorheostosis, isolated	Enrichment	MAP2K1	2.42
71	Megalencephaly, autosomal dominant	Enrichment	PIK3CA	2.42
72	Osseous heteroplasia, progressive	Enrichment	GNAS	2.42
73	Cardiomyopathy, dilated, 1nn	Enrichment	RAF1	2.42
74	Multiple self-healing squamous epithelioma	Enrichment	TGFBR1	2.42
75	Cowden syndrome 5	Enrichment	PIK3CA	2.42
76	Cardiofaciocutaneous syndrome 3	Enrichment	MAP2K1	2.42
77	Myofibromatosis, infantile, 1	Enrichment	PDGFRB	2.42
78	Noonan syndrome 9	Enrichment	SOS2	2.42
79	Deafness, autosomal recessive 44	Enrichment	ADCY1	2.42
80	Gist-plus syndrome	Enrichment	PDGFRA	2.42
81	Frontometaphyseal dysplasia 2	Enrichment	MAP3K7	2.42
82	Acth-independent macronodular adrenal hyperplasia 1	Enrichment	GNAS	2.42
83	Cerebral cavernous malformations 4	Enrichment	PIK3CA	2.42
84	Noonan syndrome 13	Enrichment	MAPK1	2.42
85	Pituitary adenoma 3, multiple types	Enrichment	GNAS	2.42
86	Short syndrome	Enrichment	PIK3R1	2.42
87	Myeloid and lymphoid neoplasms associated with pdgfra rearrangement	Enrichment	PDGFRA	2.42
88	Cardioacrofacial dysplasia 2	Enrichment	PRKACB	2.42
89	Myxoma, intracardiac	Enrichment	PRKAR1A	2.42
90	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	Enrichment	AKT3	2.42
91	Hemifacial myohyperplasia	Enrichment	PIK3CA	2.42
92	Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth	Enrichment	PIK3CA	2.42
93	Melorheostosis	Enrichment	MAP2K1	2.42
94	Leopard syndrome 2	Enrichment	RAF1	2.42
95	Basal ganglia calcification, idiopathic, 4	Enrichment	PDGFRB	2.42
96	Immunodeficiency 36 with lymphoproliferation	Enrichment	PIK3R1	2.42
97	Cowden syndrome 6	Enrichment	AKT1	2.42
98	Pigmented nodular adrenocortical disease, primary, 4	Enrichment	PRKACA	2.42
99	Immunodeficiency 14b, autosomal recessive	Enrichment	PIK3CD	2.42
100	Myeloid and lymphoid neoplasms associated with pdgfrb rearrangement	Enrichment	PDGFRB	2.42
101	Agammaglobulinemia 7, autosomal recessive	Enrichment	PIK3R1	2.42
102	Disorders of gnas inactivation	Enrichment	GNAS	2.42
103	Kosaki overgrowth syndrome	Enrichment	PDGFRB	2.42
104	Cardioacrofacial dysplasia 1	Enrichment	PRKACA	2.42
105	Ocular pterygium-digital keloid dysplasia syndrome	Enrichment	PDGFRB	2.42
106	Trigonitis	Enrichment	RAF1	2.42
107	Segmental progressive overgrowth syndrome with fibroadipose hyperplasia	Enrichment	PIK3CA	2.42
108	Pparg-associated congenital generalized lipodystrophy	Enrichment	PPARG	2.42
109	Hypospadias	Enrichment	PIK3CA	2.42
110	Capillary hemangioma	Enrichment	AKT3	2.42
111	Prkar1b-related neurodegenerative dementia with intermediate filaments	Enrichment	PRKAR1B	2.42
112	Rare venous malformation	Enrichment	PIK3CA	2.42
113	Diaphragmatic eventration	Enrichment	PIK3CA	2.42
114	Pik3ca-related overgrowth spectrum	Enrichment	PIK3CA	2.42
115	Rare combined vascular malformation	Enrichment	PIK3CA	2.42
116	Cavernous lymphangioma	Enrichment	PIK3CA	2.42
117	Pik3ca-related overgrowth syndrome	Enrichment	PIK3CA	2.42
118	Monostotic fibrous dysplasia	Enrichment	GNAS	2.42
119	Phakomatosis pigmentokeratotica	Enrichment	HRAS	2.42
120	Hemihyperplasia-multiple lipomatosis syndrome	Enrichment	PIK3CA	2.42
121	Mazabraud syndrome	Enrichment	GNAS	2.42
122	Eccrine angiomatous hamartoma	Enrichment	PIK3CA	2.42
123	Macrodactyly of toe	Enrichment	PIK3CA	2.42
124	Akt2-related familial partial lipodystrophy	Enrichment	AKT2	2.42
125	Erythroleukemia, familial	Enrichment	ERBB3	2.37
126	Paget disease, extramammary	Enrichment	ERBB2	2.37
127	Hypomagnesemia 4, renal	Enrichment	EGF	2.37
128	Lipodystrophy, congenital generalized, type 3	Enrichment	CAV1	2.37
129	Resting heart rate, variation in	Enrichment	ADRB1	2.37
130	Blepharospasm, benign essential	Enrichment	DRD5	2.37
131	Dyskinesia with orofacial involvement, autosomal dominant	Enrichment	ADCY5	2.37
132	Lethal congenital contracture syndrome 2	Enrichment	ERBB3	2.37
133	Pulmonary hypertension, primary, 3	Enrichment	CAV1	2.37
134	Visceral neuropathy, familial, 2, autosomal recessive	Enrichment	ERBB2	2.37
135	Neurodevelopmental disorder with hyperkinetic movements and dyskinesia	Enrichment	ADCY5	2.37
136	Lipodystrophy, familial partial, type 7	Enrichment	CAV1	2.37
137	Dyskinesia with orofacial involvement, autosomal recessive	Enrichment	ADCY5	2.37
138	Ovarian dysgenesis 8	Enrichment	ESR2	2.37
139	Cardiofaciocutaneous syndrome 4	Enrichment	MAP2K2	2.37
140	Menke-hennekam syndrome 1	Enrichment	CREBBP	2.37
141	Short sleep, familial natural, 2	Enrichment	ADRB1	2.37
142	Rubinstein-taybi syndrome due to 16p13.3 microdeletion	Enrichment	CREBBP	2.37
143	Menke-hennekam syndrome	Enrichment	CREBBP	2.37
144	Egf-related primary hypomagnesemia with intellectual disability	Enrichment	EGF	2.37
145	Serous carcinoma of the corpus uteri	Enrichment	ERBB2	2.37
146	Blepharospasm	Enrichment	DRD5	2.37
147	Cone-rod dystrophy 6	Enrichment	CACNA1F, CACNA2D4	2.32
148	Differentiated thyroid carcinoma	Enrichment	HRAS, PPARG	2.28
149	Hirschsprung disease 1	Enrichment	ERBB2, ERBB3	2.17
150	Myeloproliferative disorder, chronic, with eosinophilia	Enrichment	PDGFRB	2.12
151	Fibromatosis, gingival, 1	Enrichment	SOS1	2.12
152	Pseudohypoparathyroidism, type ia	Enrichment	GNAS	2.12
153	Costello syndrome	Enrichment	HRAS	2.12
154	Amelogenesis imperfecta, type ig	Enrichment	PRKAR1A	2.12
155	Carotid intimal medial thickness 1	Enrichment	PPARG	2.12
156	Pulmonic stenosis	Enrichment	SOS1	2.12
157	Loeys-dietz syndrome 2	Enrichment	TGFBR1	2.12
158	Pseudopseudohypoparathyroidism	Enrichment	GNAS	2.12
159	Hyperinsulinemic hypoglycemia, familial, 4	Enrichment	INSR	2.12
160	Keratosis, seborrheic	Enrichment	PIK3CA	2.12
161	Roifman-chitayat syndrome	Enrichment	PIK3CD	2.12
162	Bleeding disorder, platelet-type, 19	Enrichment	PRKACG	2.12
163	Noonan syndrome 8	Enrichment	PIK3CA	2.12
164	Marbach-schaaf neurodevelopmental syndrome	Enrichment	PRKAR1B	2.12
165	Usher syndrome, type iv	Enrichment	PRKAR1A	2.12
166	Infantile myofibromatosis	Enrichment	PDGFRB	2.12
167	Senior-loken syndrome 7	Enrichment	AKT3	2.12
168	Rosette-forming glioneuronal tumor	Enrichment	PIK3CA	2.12
169	Acrodysostosis	Enrichment	PRKAR1A	2.12
170	Pseudohypoparathyroidism	Enrichment	GNAS	2.12
171	Fibrolamellar carcinoma	Enrichment	PRKACA	2.12
172	Immune system disease	Enrichment	PIK3CD	2.12
173	Ciliary dyskinesia, primary, 18	Enrichment	PRKAR1B	2.12
174	Bardet-biedl syndrome 16	Enrichment	AKT3	2.12
175	Isolated primary pigmented nodular adrenocortical disease	Enrichment	PRKAR1A	2.12
176	Familial partial lipodystrophy	Enrichment	PPARG	2.12
177	Chronic eosinophilic leukemia	Enrichment	PDGFRA	2.12
178	Acth-independent macronodular adrenal hyperplasia	Enrichment	GNAS	2.12
179	B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality	Enrichment	PDGFRA	2.12
180	Wooly hair nevus	Enrichment	HRAS	2.12
181	Thyrotoxic periodic paralysis 1	Enrichment	CACNA1S	2.12
182	Coffin-lowry syndrome	Enrichment	RPS6KA3	2.12
183	Epilepsy, idiopathic generalized 9	Enrichment	CACNB4	2.12
184	Brugada syndrome 4	Enrichment	CACNB2	2.12
185	Episodic ataxia, type 5	Enrichment	CACNB4	2.12
186	Neurodevelopmental disorder with speech impairment and with or without seizures	Enrichment	CACNA1I	2.12
187	Intellectual developmental disorder, autosomal recessive 63	Enrichment	CAMK2A	2.12
188	Congenital myopathy 18	Enrichment	CACNA1S	2.12
189	Intellectual developmental disorder, autosomal dominant 54	Enrichment	CAMK2B	2.12
190	Cone-rod dystrophy, x-linked, 3	Enrichment	CACNA1F	2.12
191	Intellectual developmental disorder, x-linked 19	Enrichment	RPS6KA3	2.12
192	Retinal cone dystrophy 4	Enrichment	CACNA2D4	2.12
193	Primary aldosteronism, seizures, and neurologic abnormalities	Enrichment	CACNA1D	2.12
194	Brugada syndrome 3	Enrichment	CACNA1C	2.12
195	Epilepsy, childhood absence 6	Enrichment	CACNA1H	2.12
196	Malignant hyperthermia 5	Enrichment	CACNA1S	2.12
197	Spinocerebellar ataxia 14	Enrichment	PRKCG	2.12
198	Intellectual developmental disorder, autosomal dominant 10	Enrichment	CACNG2	2.12
199	Sinoatrial node dysfunction and deafness	Enrichment	CACNA1D	2.12
200	Long qt syndrome 16	Enrichment	CALM3	2.12
201	Spinocerebellar ataxia 42	Enrichment	CACNA1G	2.12
202	Developmental and epileptic encephalopathy 110	Enrichment	CACNA2D1	2.12
203	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits	Enrichment	CACNA1G	2.12
204	Developmental and epileptic encephalopathy 69	Enrichment	CACNA1E	2.12
205	Hyperaldosteronism, familial, type iv	Enrichment	CACNA1H	2.12
206	Noonan syndrome-like disorder with loose anagen hair 2	Enrichment	PPP1CB	2.12
207	Intellectual developmental disorder, autosomal dominant 53	Enrichment	CAMK2A	2.12
208	Intellectual developmental disorder, autosomal dominant 59	Enrichment	CAMK2G	2.12
209	Long qt syndrome 15	Enrichment	CALM2	2.12
210	Symptomatic form of coffin-lowry syndrome in female carriers	Enrichment	RPS6KA3	2.12
211	Conn's syndrome	Enrichment	CACNA1H	2.12
212	Sporadic hemiplegic migraine	Enrichment	CACNA1A	2.12
213	Atypical timothy syndrome	Enrichment	CACNA1C	2.12
214	Aldosterone-producing adenoma with seizures and neurological abnormalities	Enrichment	CACNA1D	2.12
215	Timothy syndrome type 2	Enrichment	CACNA1C	2.12
216	Periodic paralysis with transient compartment-like syndrome	Enrichment	CACNA1S	2.12
217	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom	Enrichment	RAC1	2.12
218	Timothy syndrome type 1	Enrichment	CACNA1C	2.12
219	Cacna1c-related disorders	Enrichment	CACNA1C	2.12
220	Benign paroxysmal torticollis of infancy	Enrichment	CACNA1A	2.12
221	Visceral neuropathy, familial, 1, autosomal recessive	Enrichment	ERBB3	2.07
222	Thumb deformity	Enrichment	CREBBP	2.07
223	Menke-hennekam syndrome 2	Enrichment	EP300	2.07
224	Acute myeloid leukemia with kat6a-crebbp fusion	Enrichment	CREBBP	2.07
225	Growth delay due to insulin-like growth factor type 1 deficiency	Enrichment	IGF1	2.07
226	Tafro syndrome	Enrichment	MAP2K2	2.07
227	Undetermined early-onset epileptic encephalopathy	Enrichment	CACNA1A, CACNA1B, CACNA2D1	2.07
228	Mccune-albright syndrome	Enrichment	GNAS	1.95
229	Pompe disease, infantile-onset	Enrichment	PIK3CA	1.95
230	Nuchal bleb, familial	Enrichment	SOS1	1.95
231	Langerhans cell histiocytosis	Enrichment	MAP2K1	1.95
232	Large congenital melanocytic nevus	Enrichment	HRAS	1.95
233	Loeys-dietz syndrome 1	Enrichment	TGFBR1	1.95
234	Frontometaphyseal dysplasia	Enrichment	MAP3K7	1.95
235	Spermatocytoma	Enrichment	HRAS	1.95
236	Cushing syndrome due to bilateral macronodular adrenocortical disease	Enrichment	GNAS	1.95
237	Keratoacanthoma	Enrichment	PIK3CA	1.95
238	Thyroid carcinoma, familial medullary	Enrichment	ESR2	1.89
239	Estrogen resistance	Enrichment	ESR1	1.89
240	Neonatal nephrocutaneous inflammatory syndrome	Enrichment	EGFR	1.89
241	Tethered spinal cord syndrome	Enrichment	CREBBP	1.89
242	Intraocular pressure quantitative trait locus	Enrichment	CREBBP	1.89
243	Migraine without aura	Enrichment	ESR1	1.89
244	Growth delay due to insulin-like growth factor i resistance	Enrichment	IGF1R	1.89
245	Neonatal inflammatory skin and bowel disease	Enrichment	EGFR	1.89
246	Congenital stationary night blindness	Enrichment	CACNA1F, CACNA2D4	1.89
247	Cardiomyopathy, familial hypertrophic, 1	Enrichment	CACNA1C, RAF1	1.86
248	Gastric cancer	Enrichment	ERBB2, PIK3CA	1.84
249	Schimmelpenning-feuerstein-mims syndrome	Enrichment	HRAS	1.83
250	Pseudohypoparathyroidism, type ib	Enrichment	GNAS	1.83
251	Lipodystrophy, familial partial, type 3	Enrichment	PPARG	1.83
252	Chromosome 22q11.2 deletion syndrome, distal	Enrichment	MAPK1	1.83
253	Carney complex variant	Enrichment	PRKAR1A	1.83
254	Arrhythmogenic right ventricular dysplasia, familial, 10	Enrichment	PRKAR1A	1.83
255	Lymphoproliferative syndrome 2	Enrichment	XIAP	1.83
256	Leptin deficiency or dysfunction	Enrichment	PPARG	1.83
257	Congenital generalized lipodystrophy	Enrichment	PPARG	1.83
258	Cerebrovascular disease	Enrichment	PIK3CA	1.83
259	Aortic aneurysm	Enrichment	TGFBR1	1.83
260	Noonan syndrome with multiple lentigines	Enrichment	RAF1	1.83
261	Epidermolytic nevus	Enrichment	HRAS	1.83
262	Familial cerebral cavernous malformations	Enrichment	PIK3CA	1.83
263	Gingival fibromatosis	Enrichment	SOS1	1.83
264	Male infertility due to gonadal dysgenesis or sperm disorder	Enrichment	SOS2	1.83
265	Fanconi-bickel syndrome	Enrichment	LDHA	1.82
266	Timothy syndrome	Enrichment	CACNA1C	1.82
267	Night blindness, congenital stationary, type 2a	Enrichment	CACNA1F	1.82
268	Tyrosinemia, type iii	Enrichment	HPD	1.82
269	Histiocytoma, angiomatoid fibrous	Enrichment	CREB1	1.82
270	Alternating hemiplegia of childhood 1	Enrichment	CACNA1A	1.82
271	Ventricular tachycardia, catecholaminergic polymorphic, 4	Enrichment	CALM1	1.82
272	Hawkinsinuria	Enrichment	HPD	1.82
273	Spinocerebellar ataxia 23	Enrichment	PDYN	1.82
274	Long qt syndrome 14	Enrichment	CALM1	1.82
275	Long qt syndrome 8	Enrichment	CACNA1C	1.82
276	Intellectual developmental disorder, autosomal dominant 48	Enrichment	RAC1	1.82
277	Noonan syndrome-like disorder with loose anagen hair	Enrichment	PPP1CB	1.82
278	Congenital disorder of glycosylation, type iw, autosomal dominant	Enrichment	CACNA1D	1.82
279	Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements	Enrichment	CACNA1B	1.82
280	Houge-janssens syndrome 3	Enrichment	PPP2CA	1.82
281	Progressive bulbar palsy	Enrichment	CACNA1A	1.82
282	Microcephaly	Enrichment	EP300, IGF1R, MAPK1	1.81
283	Chorea, benign hereditary	Enrichment	ADCY5	1.77
284	Neurofibromatosis-noonan syndrome	Enrichment	MAP2K2	1.77
285	Barrett esophagus	Enrichment	ERBB2	1.77
286	Mantle cell lymphoma	Enrichment	CCND1	1.77
287	Arthrogryposis multiplex congenita 3, myogenic type	Enrichment	ESR1	1.77
288	Capillary malformations, congenital	Enrichment	PIK3CA	1.73
289	Von hippel-lindau syndrome	Enrichment	CCND1	1.67
290	Rubinstein-taybi syndrome 2	Enrichment	EP300	1.67
291	Diffuse cutaneous systemic sclerosis	Enrichment	CAV1	1.67
292	Klippel-trenaunay-weber syndrome	Enrichment	PIK3CA	1.65
293	Hemihyperplasia, isolated	Enrichment	PIK3CA	1.65
294	Adrenocortical carcinoma	Enrichment	PRKAR1A	1.65
295	Classic ehlers-danlos syndrome	Enrichment	TGFBR1	1.65
296	46,xy disorder of sex development	Enrichment	INSR	1.65
297	Van der woude syndrome 1	Enrichment	CACNA1E	1.65
298	Melanoma of soft tissue	Enrichment	CREB1	1.65
299	Thyrotoxic periodic paralysis	Enrichment	CACNA1S	1.65
300	Tyrosinemia	Enrichment	HPD	1.65
301	Hereditary episodic ataxia	Enrichment	CACNA1A	1.65
302	Limited scleroderma	Enrichment	CAV1	1.60
303	Hypertrichosis	Enrichment	CREBBP	1.60
304	Thyroid cancer, nonmedullary, 2	Enrichment	HRAS	1.58
305	Gastrointestinal stromal tumor	Enrichment	PDGFRA	1.58
306	Brachydactyly	Enrichment	GNAS	1.58
307	Gallbladder cancer	Enrichment	PIK3CA	1.58
308	Pilomyxoid astrocytoma	Enrichment	RAF1	1.58
309	Megacolon	Enrichment	AKT3	1.58
310	Follicular thyroid carcinoma	Enrichment	HRAS	1.58
311	Overgrowth syndrome	Enrichment	PIK3R1	1.58
312	Eye disease	Enrichment	CACNA1F, CACNA2D4	1.55
313	Squamous cell carcinoma, head and neck	Enrichment	EGFR	1.53
314	Basal ganglia calcification, idiopathic, 1	Enrichment	PDGFRB	1.53
315	Spastic paraplegia 4, autosomal dominant	Enrichment	GNAS	1.53
316	Migraine, familial hemiplegic, 1	Enrichment	CACNA1A	1.53
317	Spinocerebellar ataxia 6	Enrichment	CACNA1A	1.53
318	Aland island eye disease	Enrichment	CACNA1F	1.53
319	Developmental and epileptic encephalopathy 2	Enrichment	CACNA1A	1.53
320	Ventricular fibrillation, paroxysmal familial, 1	Enrichment	CACNA1C	1.53
321	Developmental and epileptic encephalopathy 42	Enrichment	CACNA1A	1.53
322	Cerebellar atrophy with seizures and variable developmental delay	Enrichment	CACNA2D2	1.53
323	Developmental and epileptic encephalopathy 52	Enrichment	CACNA1A	1.53
324	Hereditary ataxia	Enrichment	PRKCG	1.53
325	Malignant hyperthermia	Enrichment	CACNA1S	1.53
326	Episodic ataxia	Enrichment	CACNA1A	1.53
327	Familial or sporadic hemiplegic migraine	Enrichment	CACNA1A	1.53
328	Developmental and epileptic encephalopathy	Enrichment	CACNA1E, CACNA2D2	1.52
329	Loeys-dietz syndrome	Enrichment	TGFBR1	1.48
330	Glioma susceptibility 1	Enrichment	ERBB2	1.47
331	Cerebral palsy	Enrichment	CACNA1A, CACNA1C	1.46
332	Marfan syndrome	Enrichment	TGFBR1	1.43
333	Polymicrogyria	Enrichment	AKT3	1.43
334	Episodic ataxia, type 2	Enrichment	CACNA1A	1.43
335	Heart conduction disease	Enrichment	CACNA1C	1.43
336	Amblyopia	Enrichment	CACNA1F	1.43
337	Cardiac arrest	Enrichment	CACNA2D1	1.43
338	Congenital short qt syndrome	Enrichment	CACNA2D1	1.43
339	Charge syndrome	Enrichment	EP300	1.42
340	Pectus excavatum	Enrichment	TGFBR1	1.39
341	Leukemia, chronic lymphocytic	Enrichment	CCND1	1.38
342	Hypokalemic periodic paralysis, type 1	Enrichment	CACNA1S	1.35
343	Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy	Enrichment	CALM1	1.35
344	Childhood absence epilepsy	Enrichment	CACNA1H	1.35
345	Migraine with or without aura 1	Enrichment	ESR1	1.34
346	Heritable pulmonary arterial hypertension	Enrichment	CAV1	1.34
347	Aortic valve disease 1	Enrichment	SOS1	1.32
348	Acute promyelocytic leukemia	Enrichment	PRKAR1A	1.32
349	Cleft lip/palate	Enrichment	PDGFRA	1.29
350	46,xy partial gonadal dysgenesis	Enrichment	SOS1	1.29
351	Brugada syndrome 1	Enrichment	CACNA2D1	1.29
352	Hydrocephalus	Enrichment	PDGFRB	1.26
353	Lynch syndrome	Enrichment	PIK3CA	1.26
354	Hypertelorism	Enrichment	PIK3CA, RPS6KA3	1.23
355	Heart disease	Enrichment	CREBBP	1.23
356	Rhabdomyosarcoma	Enrichment	HRAS	1.23
357	Gliosarcoma	Enrichment	PPARG	1.23
358	Gastroesophageal reflux	Enrichment	RPS6KA3	1.23
359	Orthostatic intolerance	Enrichment	RPS6KA3	1.23
360	Lennox-gastaut syndrome	Enrichment	CACNA1A	1.23
361	Alternating hemiplegia of childhood	Enrichment	CACNA1A	1.23
362	Catecholaminergic polymorphic ventricular tachycardia 1	Enrichment	CALM1	1.23
363	Difference of sex development	Enrichment	CACNA1A	1.23
364	Spastic ataxia	Enrichment	CACNA1G, CACNB4	1.22
365	Hypertension, essential	Enrichment	PTGIS	1.21
366	Dandy-walker syndrome	Enrichment	PDGFRB	1.21
367	Giant cell glioblastoma	Enrichment	PPARG	1.21
368	Polydactyly, postaxial, type a1	Enrichment	EP300	1.21
369	Corpus callosum, agenesis of	Enrichment	CREBBP	1.21
370	Isolated corpus callosum agenesis	Enrichment	CREBBP	1.21
371	Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome	Enrichment	CREBBP	1.21
372	Heart, malformation of	Enrichment	MAPK1	1.18
373	Ventricular septal defect	Enrichment	RPS6KA3	1.18
374	Endometrial cancer	Enrichment	PIK3CA	1.12
375	Arteriovenous malformations of the brain	Enrichment	EGFR	1.11
376	Diffuse large b-cell lymphoma	Enrichment	CREBBP	1.11
377	Hepatocellular carcinoma	Enrichment	PIK3CA	1.10
378	Epilepsy, myoclonic juvenile	Enrichment	CACNB4	1.10
379	Epilepsy, idiopathic generalized	Enrichment	CACNA1H	1.10
380	Autoinflammatory disease	Enrichment	XIAP	1.06
381	Cardiac conduction defect	Enrichment	CACNA1C	1.06
382	Inherited cancer-predisposing syndrome	Enrichment	PDGFRA, PRKAR1A	1.06
383	Attention deficit-hyperactivity disorder	Enrichment	DRD5	1.05
384	Myocardial infarction	Enrichment	ESR1	1.05
385	Cone-rod dystrophy 2	Enrichment	CACNA1F, CACNA2D4	1.03
386	Hydrops fetalis, nonimmune	Enrichment	HRAS	1.03
387	Scoliosis	Enrichment	CREBBP	1.01
388	Prostate cancer	Enrichment	PIK3CA	0.98
389	Myopia	Enrichment	CACNA1F	0.97
390	Non-immune hydrops fetalis	Enrichment	HRAS	0.96
391	Familial hypertrophic cardiomyopathy	Enrichment	RAF1	0.93
392	Sudden infant death syndrome	Enrichment	CALM2	0.92
393	Left ventricular noncompaction	Enrichment	RAF1	0.91
394	Congenital myopathy	Enrichment	CACNA1S	0.87
395	Centronuclear myopathy	Enrichment	CACNA1S	0.83
396	Familial thoracic aortic aneurysm and aortic dissection	Enrichment	TGFBR1	0.82
397	Cone dystrophy	Enrichment	CACNA2D4	0.78
398	Auditory neuropathy	Enrichment	CACNA1A	0.75
399	Familial isolated dilated cardiomyopathy	Enrichment	RAF1	0.74
400	Strabismus	Enrichment	CACNA1A	0.73
401	Congenital nervous system abnormality	Enrichment	CACNA1A, CAMK2B	0.72
402	Nervous system disease	Enrichment	CACNA1A, CAMK2B	0.72
403	Dystonia	Enrichment	CAMK2B	0.63
404	Non-syndromic x-linked intellectual disability	Enrichment	RPS6KA3	0.62
405	Complex neurodevelopmental disorder	Enrichment	CACNA1C, PPP2CA	0.62
406	Primary ciliary dyskinesia	Enrichment	PRKAR1B	0.60
407	Dilated cardiomyopathy	Enrichment	RAF1	0.58
408	Autism	Enrichment	CREBBP	0.58
409	Optic atrophy plus syndrome	Enrichment	CACNA1F	0.55
410	Rare autosomal recessive non-syndromic sensorineural deafness type dfnb	Enrichment	ADCY1	0.54
411	Autism spectrum disorder	Enrichment	MAP2K1	0.47
412	Retinitis pigmentosa	Enrichment	CACNA1F, CACNA2D4	0.32
413	Hereditary retinal dystrophy	Enrichment	CACNA1F, CACNA2D4	0.19
414	Fundus dystrophy	Enrichment	CACNA1F, CACNA2D4	0.19

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

Development Ligand-independent activation of ESR1 and ESR2

Pathway Network for Development Ligand-independent activation of ESR1 and ESR2

Pathway network for the Development Ligand-independent activation of ESR1 and ESR2 SuperPath

Member Pathways for Development Ligand-independent activation of ESR1 and ESR2

Pathways in the Development Ligand-independent activation of ESR1 and ESR2 SuperPath

Gene overlap in member pathways for Development Ligand-independent activation of ESR1 and ESR2 SuperPath

Associated Genes for Development Ligand-independent activation of ESR1 and ESR2

Associated Disorders for Development Ligand-independent activation of ESR1 and ESR2

Disorders associated with Development Ligand-independent activation of ESR1 and ESR2 SuperPath

STRING Interaction Network for Development Ligand-independent activation of ESR1 and ESR2

Sources for Development Ligand-independent activation of ESR1 and ESR2