Beta-2 adrenergic-dependent CFTR expression

Pathway network for the Beta-2 adrenergic-dependent CFTR expression SuperPath

Sources:

GeneGo (Thomson Reuters)
Reactome
WikiPathways

Pathways in the Beta-2 adrenergic-dependent CFTR expression SuperPath

#	Name	Source	Genes
1	Beta-2 adrenergic-dependent CFTR expression	GeneGo (Thomson Reuters)	ADCY1 ADCY2 ADCY3 ADCY4 ADCY5 ADCY6 ADCY7 ADCY8 ADCY9 ADRB1 ADRB2 ADRB3 ATF1 CFTR CREB1 GNAS PRKACA PRKACB PRKACG PRKAR1A PRKAR1B PRKAR2A PRKAR2B (see all 23) (see less)
2	Development Beta-adrenergic receptors signaling via cAMP	GeneGo (Thomson Reuters)	ADCY1 ADCY2 ADCY3 ADCY4 ADCY5 ADCY6 ADCY7 ADCY8 ADCY9 ADRB1 ADRB2 ADRB3 AKAP6 ARHGEF7 ATP2A1 ATP2A2 CACNA1C CALM1 CALM2 CALM3 CAMK2A CAMK2B CAMK2D CAMK2G CDC42 GNAS LIPE MAP2K3 MAP2K6 MAP3K4 MAPK11 MAPK12 MAPK13 MAPK14 PDE3A PDE4D PHKA1 PHKG1 PLIN1 PLN PPARG PPARGC1A PPP2CA PPP2CB PPP3CB PRKACA PRKACB PRKACG PRKAR1A PRKAR1B PRKAR2A PRKAR2B PYGM RXRA RYR2 TNNC1 TNNI3 TNNT2 UCP1 (see all 59) (see less)
3	Development Role of Activin A in cell differentiation and proliferation	GeneGo (Thomson Reuters)	ACVR1B ACVR2A ACVR2B ADCY1 ADCY2 ADCY3 ADCY4 ADCY5 ADCY6 ADCY7 ADCY8 ADCY9 CDKN1A CDKN1B CDKN2B CGA CREB1 CYP11A1 FSHB FSHR GNAS GNRHR INHBA LEFTY1 LEFTY2 LHB LHCGR LHX3 MXD1 MYC NANOG NODAL NR5A1 OTX1 PBX1 PITX1 PKNOX1 POU5F1 PRKACA PRKACB PRKACG PRKAR1A PRKAR1B PRKAR2A PRKAR2B SMAD2 SMAD3 SMAD4 SP1 STAR VDR (see all 51) (see less)
4	Inhibitory action of Lipoxin A4 on PDGF, EGF and LTD4 signaling	GeneGo (Thomson Reuters)	ADCY1 ADCY2 ADCY3 ADCY4 ADCY5 ADCY6 ADCY7 ADCY8 ADCY9 AHR CYSLTR1 CYSLTR2 EGF EGFR FPR2 GNA11 GNAI1 GNAI2 GNAI3 GNAO1 GNAQ GNAZ PDGFB PDGFRB PIK3R1 PIK3R2 PLCG1 PLD1 PLPP6 PRDX2 PRKACA PRKACB PRKACG PRKAR1A PRKAR1B PRKAR2A PRKAR2B PTPN11 RHOA SOCS2 SRC TXN (see all 42) (see less)
5	Neurophysiological process PGE2-induced pain processing	GeneGo (Thomson Reuters)	ADCY1 ADCY2 ADCY3 ADCY4 ADCY5 ADCY6 ADCY7 ADCY8 ADCY9 GLRA1 GLRA2 GLRA3 GLRA4 GLRB GNAS GRIN1 GRIN2A GRIN2B GRIN2C GRIN2D PLA2G4A PLA2G4C PRKACA PRKACB PRKACG PRKAR1A PRKAR1B PRKAR2A PRKAR2B PTGER2 PTGER3 PTGER4 PTGES PTGES2 PTGS1 PTGS2 SCN10A SLCO2A1 TRPV1 (see all 39) (see less)
6	PKA-mediated phosphorylation of CREB	Reactome	ADCY1 ADCY2 ADCY3 ADCY4 ADCY5 ADCY6 ADCY7 ADCY8 ADCY9 CALM1 CALM2 CALM3 CREB1 NBEA PRKACA PRKACB PRKACG PRKAR1A PRKAR1B PRKAR2A PRKAR2B PRKX (see all 22) (see less)
7	PKA activation	Reactome	ADCY1 ADCY2 ADCY3 ADCY4 ADCY5 ADCY6 ADCY7 ADCY8 ADCY9 CALM1 CALM2 CALM3 NBEA PRKACA PRKACB PRKACG PRKAR1A PRKAR1B PRKAR2A PRKAR2B (see all 20) (see less)
8	PKA activation in glucagon signalling	Reactome	ADCY1 ADCY2 ADCY3 ADCY4 ADCY5 ADCY6 ADCY7 ADCY8 ADCY9 GNAS PRKACA PRKACB PRKACG PRKAR1A PRKAR1B PRKAR2A PRKAR2B (see all 17) (see less)
9	Major receptors targeted by epinephrine and norepinephrine	WikiPathways	ADCY1 ADCY10 ADCY2 ADCY3 ADCY4 ADCY5 ADCY6 ADCY7 ADCY8 ADCY9 ADRA1D ADRA2A ADRA2B ADRA2C ADRB1 ADRB2 (see all 16) (see less)
10	CREB1 phosphorylation through the activation of Adenylate Cyclase	Reactome	ADCY1 ADCY8 CALM1 CALM2 CALM3 CREB1 PRKACA PRKACB PRKACG PRKAR1A PRKAR1B PRKAR2A PRKAR2B PRKX (see all 14) (see less)

Gene overlap in member pathways for Beta-2 adrenergic-dependent CFTR expression SuperPath

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

#	Symbol	Description	Category	# Related Pathways
1	ADCY1	Adenylate Cyclase 1	Protein Coding	10
2	ADCY8	Adenylate Cyclase 8	Protein Coding	10
3	ADCY2	Adenylate Cyclase 2	Protein Coding	9
4	ADCY3	Adenylate Cyclase 3	Protein Coding	9
5	ADCY5	Adenylate Cyclase 5	Protein Coding	9
6	ADCY6	Adenylate Cyclase 6	Protein Coding	9
7	ADCY7	Adenylate Cyclase 7	Protein Coding	9
8	ADCY9	Adenylate Cyclase 9	Protein Coding	9
9	PRKACA	Protein Kinase CAMP-Activated Catalytic Subunit Alpha	Protein Coding	9
10	PRKACB	Protein Kinase CAMP-Activated Catalytic Subunit Beta	Protein Coding	9
11	PRKACG	Protein Kinase CAMP-Activated Catalytic Subunit Gamma	Protein Coding	9
12	PRKAR1A	Protein Kinase CAMP-Dependent Type I Regulatory Subunit Alpha	Protein Coding	9
13	PRKAR1B	Protein Kinase CAMP-Dependent Type I Regulatory Subunit Beta	Protein Coding	9
14	PRKAR2A	Protein Kinase CAMP-Dependent Type II Regulatory Subunit Alpha	Protein Coding	9
15	PRKAR2B	Protein Kinase CAMP-Dependent Type II Regulatory Subunit Beta	Protein Coding	9
16	ADCY4	Adenylate Cyclase 4	Protein Coding	9
17	GNAS	GNAS Complex Locus	Protein Coding	5
18	CREB1	CAMP Responsive Element Binding Protein 1	Protein Coding	4
19	CALM1	Calmodulin 1	Protein Coding	4
20	CALM2	Calmodulin 2	Protein Coding	4
21	CALM3	Calmodulin 3	Protein Coding	4
22	ADRB1	Adrenoceptor Beta 1	Protein Coding	3
23	ADRB2	Adrenoceptor Beta 2	Protein Coding	3
24	ADRB3	Adrenoceptor Beta 3	Protein Coding	2
25	NBEA	Neurobeachin	Protein Coding	2
26	PRKX	Protein Kinase CAMP-Dependent X-Linked Catalytic Subunit	Protein Coding	2
27	ATF1	Activating Transcription Factor 1	Protein Coding	1
28	CFTR	CF Transmembrane Conductance Regulator	Protein Coding	1
29	ATP2A1	ATPase Sarcoplasmic/Endoplasmic Reticulum Ca2+ Transporting 1	Protein Coding	1
30	ATP2A2	ATPase Sarcoplasmic/Endoplasmic Reticulum Ca2+ Transporting 2	Protein Coding	1
31	CACNA1C	Calcium Voltage-Gated Channel Subunit Alpha1 C	Protein Coding	1
32	CAMK2A	Calcium/Calmodulin Dependent Protein Kinase II Alpha	Protein Coding	1
33	CAMK2B	Calcium/Calmodulin Dependent Protein Kinase II Beta	Protein Coding	1
34	CAMK2D	Calcium/Calmodulin Dependent Protein Kinase II Delta	Protein Coding	1
35	CAMK2G	Calcium/Calmodulin Dependent Protein Kinase II Gamma	Protein Coding	1
36	CDC42	Cell Division Cycle 42	Protein Coding	1
37	MAPK14	Mitogen-Activated Protein Kinase 14	Protein Coding	1
38	LIPE	Lipase E, Hormone Sensitive Type	Protein Coding	1
39	MAP3K4	Mitogen-Activated Protein Kinase Kinase Kinase 4	Protein Coding	1
40	PDE3A	Phosphodiesterase 3A	Protein Coding	1
41	PDE4D	Phosphodiesterase 4D	Protein Coding	1
42	PHKA1	Phosphorylase Kinase Regulatory Subunit Alpha 1	Protein Coding	1
43	PHKG1	Phosphorylase Kinase Catalytic Subunit Gamma 1	Protein Coding	1
44	PLIN1	Perilipin 1	Protein Coding	1
45	PLN	Phospholamban	Protein Coding	1
46	PPARG	Peroxisome Proliferator Activated Receptor Gamma	Protein Coding	1
47	PPP2CA	Protein Phosphatase 2 Catalytic Subunit Alpha	Protein Coding	1
48	PPP2CB	Protein Phosphatase 2 Catalytic Subunit Beta	Protein Coding	1
49	PPP3CB	Protein Phosphatase 3 Catalytic Subunit Beta	Protein Coding	1
50	MAPK11	Mitogen-Activated Protein Kinase 11	Protein Coding	1
51	MAPK13	Mitogen-Activated Protein Kinase 13	Protein Coding	1
52	MAP2K3	Mitogen-Activated Protein Kinase Kinase 3	Protein Coding	1
53	MAP2K6	Mitogen-Activated Protein Kinase Kinase 6	Protein Coding	1
54	PYGM	Glycogen Phosphorylase, Muscle Associated	Protein Coding	1
55	RXRA	Retinoid X Receptor Alpha	Protein Coding	1
56	RYR2	Ryanodine Receptor 2	Protein Coding	1
57	MAPK12	Mitogen-Activated Protein Kinase 12	Protein Coding	1
58	TNNC1	Troponin C1, Slow Skeletal And Cardiac Type	Protein Coding	1
59	TNNI3	Troponin I3, Cardiac Type	Protein Coding	1
60	TNNT2	Troponin T2, Cardiac Type	Protein Coding	1
61	UCP1	Uncoupling Protein 1	Protein Coding	1
62	ARHGEF7	Rho Guanine Nucleotide Exchange Factor 7	Protein Coding	1
63	AKAP6	A-Kinase Anchoring Protein 6	Protein Coding	1
64	PPARGC1A	PPARG Coactivator 1 Alpha	Protein Coding	1
65	ACVR1B	Activin A Receptor Type 1B	Protein Coding	1
66	ACVR2A	Activin A Receptor Type 2A	Protein Coding	1
67	ACVR2B	Activin A Receptor Type 2B	Protein Coding	1
68	CDKN1A	Cyclin Dependent Kinase Inhibitor 1A	Protein Coding	1
69	CDKN1B	Cyclin Dependent Kinase Inhibitor 1B	Protein Coding	1
70	CDKN2B	Cyclin Dependent Kinase Inhibitor 2B	Protein Coding	1
71	CGA	Glycoprotein Hormones, Alpha Polypeptide	Protein Coding	1
72	CYP11A1	Cytochrome P450 Family 11 Subfamily A Member 1	Protein Coding	1
73	FSHB	Follicle Stimulating Hormone Subunit Beta	Protein Coding	1
74	FSHR	Follicle Stimulating Hormone Receptor	Protein Coding	1
75	NR5A1	Nuclear Receptor Subfamily 5 Group A Member 1	Protein Coding	1
76	GNRHR	Gonadotropin Releasing Hormone Receptor	Protein Coding	1
77	INHBA	Inhibin Subunit Beta A	Protein Coding	1
78	LHB	Luteinizing Hormone Subunit Beta	Protein Coding	1
79	LHCGR	Luteinizing Hormone/Choriogonadotropin Receptor	Protein Coding	1
80	MXD1	MAX Dimerization Protein 1	Protein Coding	1
81	SMAD2	SMAD Family Member 2	Protein Coding	1
82	SMAD3	SMAD Family Member 3	Protein Coding	1
83	SMAD4	SMAD Family Member 4	Protein Coding	1
84	MYC	MYC Proto-Oncogene, BHLH Transcription Factor	Protein Coding	1
85	NODAL	Nodal Growth Differentiation Factor	Protein Coding	1
86	OTX1	Orthodenticle Homeobox 1	Protein Coding	1
87	PBX1	PBX Homeobox 1	Protein Coding	1
88	PITX1	Paired Like Homeodomain 1	Protein Coding	1
89	PKNOX1	PBX/Knotted 1 Homeobox 1	Protein Coding	1
90	POU5F1	POU Class 5 Homeobox 1	Protein Coding	1
91	SP1	Sp1 Transcription Factor	Protein Coding	1
92	STAR	Steroidogenic Acute Regulatory Protein	Protein Coding	1
93	LEFTY2	Left-Right Determination Factor 2	Protein Coding	1
94	VDR	Vitamin D Receptor	Protein Coding	1
95	LHX3	LIM Homeobox 3	Protein Coding	1
96	LEFTY1	Left-Right Determination Factor 1	Protein Coding	1
97	NANOG	Nanog Homeobox	Protein Coding	1
98	AHR	Aryl Hydrocarbon Receptor	Protein Coding	1
99	RHOA	Ras Homolog Family Member A	Protein Coding	1
100	EGF	Epidermal Growth Factor	Protein Coding	1
101	EGFR	Epidermal Growth Factor Receptor	Protein Coding	1
102	FPR2	Formyl Peptide Receptor 2	Protein Coding	1
103	GNA11	G Protein Subunit Alpha 11	Protein Coding	1
104	GNAI1	G Protein Subunit Alpha I1	Protein Coding	1
105	GNAI2	G Protein Subunit Alpha I2	Protein Coding	1
106	GNAI3	G Protein Subunit Alpha I3	Protein Coding	1
107	GNAO1	G Protein Subunit Alpha O1	Protein Coding	1
108	GNAQ	G Protein Subunit Alpha Q	Protein Coding	1
109	GNAZ	G Protein Subunit Alpha Z	Protein Coding	1
110	PDGFB	Platelet Derived Growth Factor Subunit B	Protein Coding	1
111	PDGFRB	Platelet Derived Growth Factor Receptor Beta	Protein Coding	1
112	PIK3R1	Phosphoinositide-3-Kinase Regulatory Subunit 1	Protein Coding	1
113	PIK3R2	Phosphoinositide-3-Kinase Regulatory Subunit 2	Protein Coding	1
114	PLCG1	Phospholipase C Gamma 1	Protein Coding	1
115	PLD1	Phospholipase D1	Protein Coding	1
116	PTPN11	Protein Tyrosine Phosphatase Non-Receptor Type 11	Protein Coding	1
117	SRC	SRC Proto-Oncogene, Non-Receptor Tyrosine Kinase	Protein Coding	1
118	PRDX2	Peroxiredoxin 2	Protein Coding	1
119	TXN	Thioredoxin	Protein Coding	1
120	SOCS2	Suppressor Of Cytokine Signaling 2	Protein Coding	1
121	CYSLTR1	Cysteinyl Leukotriene Receptor 1	Protein Coding	1
122	CYSLTR2	Cysteinyl Leukotriene Receptor 2	Protein Coding	1
123	PLPP6	Phospholipid Phosphatase 6	Protein Coding	1
124	GLRA1	Glycine Receptor Alpha 1	Protein Coding	1
125	GLRA2	Glycine Receptor Alpha 2	Protein Coding	1
126	GLRB	Glycine Receptor Beta	Protein Coding	1
127	GRIN1	Glutamate Ionotropic Receptor NMDA Type Subunit 1	Protein Coding	1
128	GRIN2A	Glutamate Ionotropic Receptor NMDA Type Subunit 2A	Protein Coding	1
129	GRIN2B	Glutamate Ionotropic Receptor NMDA Type Subunit 2B	Protein Coding	1
130	GRIN2C	Glutamate Ionotropic Receptor NMDA Type Subunit 2C	Protein Coding	1
131	GRIN2D	Glutamate Ionotropic Receptor NMDA Type Subunit 2D	Protein Coding	1
132	PLA2G4A	Phospholipase A2 Group IVA	Protein Coding	1
133	PTGER2	Prostaglandin E Receptor 2	Protein Coding	1
134	PTGER3	Prostaglandin E Receptor 3	Protein Coding	1
135	PTGER4	Prostaglandin E Receptor 4	Protein Coding	1
136	PTGS1	Prostaglandin-Endoperoxide Synthase 1	Protein Coding	1
137	PTGS2	Prostaglandin-Endoperoxide Synthase 2	Protein Coding	1
138	SCN10A	Sodium Voltage-Gated Channel Alpha Subunit 10	Protein Coding	1
139	SLCO2A1	Solute Carrier Organic Anion Transporter Family Member 2A1	Protein Coding	1
140	TRPV1	Transient Receptor Potential Cation Channel Subfamily V Member 1	Protein Coding	1
141	GLRA3	Glycine Receptor Alpha 3	Protein Coding	1
142	PLA2G4C	Phospholipase A2 Group IVC	Protein Coding	1
143	PTGES	Prostaglandin E Synthase	Protein Coding	1
144	PTGES2	Prostaglandin E Synthase 2	Protein Coding	1
145	GLRA4	Glycine Receptor Alpha 4 (Pseudogene)	Pseudogene	1
146	ADRA1D	Adrenoceptor Alpha 1D	Protein Coding	1
147	ADRA2C	Adrenoceptor Alpha 2C	Protein Coding	1
148	ADRA2B	Adrenoceptor Alpha 2B	Protein Coding	1
149	ADCY10	Adenylate Cyclase 10	Protein Coding	1
150	ADRA2A	Adrenoceptor Alpha 2A	Protein Coding	1

Disorders associated with Beta-2 adrenergic-dependent CFTR expression SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Catecholaminergic polymorphic ventricular tachycardia	Enrichment	CALM1, CALM2, CALM3, RYR2	7.65
2	Melanoma, uveal	Enrichment	CYSLTR2, GNA11, GNAQ	6.26
3	Pigmented nodular adrenocortical disease, primary, 1	Enrichment	GNAS, PRKAR1A	5.83
4	Multiple endocrine neoplasia, type i	Enrichment	CDKN1A, CDKN1B, CDKN2B	5.76
5	Long qt syndrome 1	Enrichment	CALM1, CALM2, CALM3	5.46
6	Melanoma of soft tissue	Enrichment	ATF1, CREB1	5.08
7	Long qt syndrome	Enrichment	CACNA1C, CALM1, CALM2, RYR2	5.03
8	Phakomatosis cesioflammea	Enrichment	GNA11, GNAQ	5.03
9	Cardiac conduction defect	Enrichment	CACNA1C, PLN, RYR2	4.78
10	Acrodysostosis	Enrichment	PDE4D, PRKAR1A	4.73
11	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	Enrichment	GNA11, PIK3R1	4.55
12	Anastomosing haemangioma	Enrichment	GNA11, GNAQ	4.55
13	Hypertrophic cardiomyopathy	Enrichment	PLN, TNNC1, TNNI3, TNNT2	4.45
14	Ellis-van creveld syndrome	Enrichment	PRKACA, PRKACB	4.45
15	Sudden infant death syndrome	Enrichment	CALM2, PLN, TNNI3	4.29
16	Glycogen storage disease ixd	Enrichment	PHKA1, PHKG1	4.25
17	Body mass index quantitative trait locus 11	Enrichment	ADCY3, ADRB3, GNAS, PPARG	4.19
18	Visceral heterotaxy	Enrichment	ACVR2B, LEFTY2, NODAL	4.13
19	Hyperekplexia	Enrichment	GLRA1, GLRB	4.10
20	Familial isolated dilated cardiomyopathy	Enrichment	PLN, TNNC1, TNNI3, TNNT2	4.09
21	Capillary malformations, congenital	Enrichment	GNA11, GNAQ	4.03
22	Ventricular fibrillation, paroxysmal familial, 1	Enrichment	CACNA1C, RYR2	3.95
23	Cardiomyopathy, familial hypertrophic, 1	Enrichment	CACNA1C, TNNI3, TNNT2	3.83
24	Heart conduction disease	Enrichment	CACNA1C, RYR2	3.73
25	Basal ganglia calcification, idiopathic, 1	Enrichment	PDGFB, PDGFRB	3.59
26	Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy	Enrichment	CALM1, RYR2	3.56
27	Familial isolated restrictive cardiomyopathy	Enrichment	TNNI3, TNNT2	3.41
28	Left ventricular noncompaction	Enrichment	RYR2, TNNI3, TNNT2	3.33
29	Loeys-dietz syndrome	Enrichment	SMAD2, SMAD3	3.31
30	Catecholaminergic polymorphic ventricular tachycardia 1	Enrichment	CALM1, RYR2	3.29
31	Myocarditis	Enrichment	TNNI3, TNNT2	3.29
32	Familial thoracic aortic aneurysm and aortic dissection	Enrichment	SMAD2, SMAD3, SMAD4	3.23
33	Cardiomyopathy, familial hypertrophic, 4	Enrichment	TNNI3, TNNT2	3.18
34	46 xx gonadal dysgenesis	Enrichment	FSHR, NR5A1	3.05
35	Acrodysostosis 1 with or without hormone resistance	Enrichment	PRKAR1A	2.99
36	Carney complex, type 1	Enrichment	PRKAR1A	2.99
37	Deafness, autosomal recessive 44	Enrichment	ADCY1	2.99
38	Cardioacrofacial dysplasia 2	Enrichment	PRKACB	2.99
39	Myxoma, intracardiac	Enrichment	PRKAR1A	2.99
40	Long qt syndrome 16	Enrichment	CALM3	2.99
41	Pigmented nodular adrenocortical disease, primary, 4	Enrichment	PRKACA	2.99
42	Cardioacrofacial dysplasia 1	Enrichment	PRKACA	2.99
43	Long qt syndrome 15	Enrichment	CALM2	2.99
44	Prkar1b-related neurodegenerative dementia with intermediate filaments	Enrichment	PRKAR1B	2.99
45	Resting heart rate, variation in	Enrichment	ADRB1	2.93
46	Dyskinesia with orofacial involvement, autosomal dominant	Enrichment	ADCY5	2.93
47	Neurodevelopmental disorder with hyperkinetic movements and dyskinesia	Enrichment	ADCY5	2.93
48	Dyskinesia with orofacial involvement, autosomal recessive	Enrichment	ADCY5	2.93
49	Short sleep, familial natural, 2	Enrichment	ADRB1	2.93
50	Lipodystrophy, familial partial, type 8	Enrichment	ADRA2A	2.93
51	Idiopathic hypercalciuria	Enrichment	ADCY10	2.93
52	Restrictive cardiomyopathy	Enrichment	TNNI3, TNNT2	2.92
53	Lipoid congenital adrenal hyperplasia	Enrichment	CYP11A1, STAR	2.91
54	Pseudohypoparathyroidism, type ic	Enrichment	GNAS	2.90
55	Osseous heteroplasia, progressive	Enrichment	GNAS	2.90
56	Acth-independent macronodular adrenal hyperplasia 1	Enrichment	GNAS	2.90
57	Pituitary adenoma 3, multiple types	Enrichment	GNAS	2.90
58	Disorders of gnas inactivation	Enrichment	GNAS	2.90
59	Monostotic fibrous dysplasia	Enrichment	GNAS	2.90
60	Mazabraud syndrome	Enrichment	GNAS	2.90
61	Neurodevelopmental disorder with or without early-onset generalized epilepsy	Enrichment	NBEA	2.83
62	Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant	Enrichment	PLN, RYR2	2.79
63	Aquagenic palmoplantar keratoderma	Enrichment	CFTR	2.77
64	Amelogenesis imperfecta, type ig	Enrichment	PRKAR1A	2.69
65	Histiocytoma, angiomatoid fibrous	Enrichment	CREB1	2.69
66	Ventricular tachycardia, catecholaminergic polymorphic, 4	Enrichment	CALM1	2.69
67	Bleeding disorder, platelet-type, 19	Enrichment	PRKACG	2.69
68	Long qt syndrome 14	Enrichment	CALM1	2.69
69	Marbach-schaaf neurodevelopmental syndrome	Enrichment	PRKAR1B	2.69
70	Usher syndrome, type iv	Enrichment	PRKAR1A	2.69
71	Fibrolamellar carcinoma	Enrichment	PRKACA	2.69
72	Ciliary dyskinesia, primary, 18	Enrichment	PRKAR1B	2.69
73	Isolated primary pigmented nodular adrenocortical disease	Enrichment	PRKAR1A	2.69
74	Hypercalciuria, absorptive, 2	Enrichment	ADCY10	2.63
75	Lethal congenital contracture syndrome 8	Enrichment	ADCY6	2.63
76	Body mass index quantitative trait locus 19	Enrichment	ADCY3	2.63
77	Pseudohypoparathyroidism, type ia	Enrichment	GNAS	2.60
78	Pseudopseudohypoparathyroidism	Enrichment	GNAS	2.60
79	Pseudohypoparathyroidism	Enrichment	GNAS	2.60
80	Acth-independent macronodular adrenal hyperplasia	Enrichment	GNAS	2.60
81	Epilepsy, focal, with speech disorder and with or without impaired intellectual development	Enrichment	GRIN2A	2.54
82	Hypertrophic osteoarthropathy, primary, autosomal dominant	Enrichment	SLCO2A1	2.54
83	Developmental and epileptic encephalopathy 27	Enrichment	GRIN2B	2.54
84	Hyperekplexia 2	Enrichment	GLRB	2.54
85	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive	Enrichment	GRIN1	2.54
86	Intellectual developmental disorder, autosomal dominant 6, with or without seizures	Enrichment	GRIN2B	2.54
87	Episodic pain syndrome, familial, 2	Enrichment	SCN10A	2.54
88	Cytosolic phospholipase-a2 alpha deficiency associated bleeding disorder	Enrichment	PLA2G4A	2.54
89	Developmental and epileptic encephalopathy 101	Enrichment	GRIN1	2.54
90	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant	Enrichment	GRIN1	2.54
91	Gastrointestinal ulceration, recurrent, with dysfunctional platelets	Enrichment	PLA2G4A	2.54
92	Chronic enteropathy associated with slco2a1 gene	Enrichment	SLCO2A1	2.54
93	Grin2b-related neurodevelopmental disorder	Enrichment	GRIN2B	2.54
94	Landau-kleffner syndrome	Enrichment	GRIN2A	2.54
95	Intellectual disability, autosomal dominant 8	Enrichment	GRIN1	2.54
96	Cryptogenic multifocal ulcerous stenosing enteritis	Enrichment	PLA2G4A	2.54
97	Early-onset epileptic encephalopathy and intellectual disability due to grin2a mutation	Enrichment	GRIN2A	2.54
98	Grin2a-related disorders	Enrichment	GRIN2A	2.54
99	Cerebellar, ocular, craniofacial, and genital syndrome	Enrichment	NBEA	2.53
100	Hypocalciuric hypercalcemia, familial, type ii	Enrichment	GNA11	2.51
101	Metachondromatosis	Enrichment	PTPN11	2.51
102	Premature aging syndrome, penttinen type	Enrichment	PDGFRB	2.51
103	Hypomagnesemia 4, renal	Enrichment	EGF	2.51
104	Basal ganglia calcification, idiopathic, 5	Enrichment	PDGFB	2.51
105	Leopard syndrome 1	Enrichment	PTPN11	2.51
106	Cardiac valvular dysplasia 1	Enrichment	PLD1	2.51
107	Myofibromatosis, infantile, 1	Enrichment	PDGFRB	2.51
108	Neurodevelopmental disorder with involuntary movements	Enrichment	GNAO1	2.51
109	Sturge-weber syndrome	Enrichment	GNAQ	2.51
110	Ventricular tachycardia, familial	Enrichment	GNAI2	2.51
111	Retinitis pigmentosa 85	Enrichment	AHR	2.51
112	Short syndrome	Enrichment	PIK3R1	2.51
113	Immune dysregulation, autoimmunity, and autoinflammation	Enrichment	PLCG1	2.51
114	Foveal hypoplasia 3	Enrichment	AHR	2.51
115	Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities	Enrichment	GNAI1	2.51
116	Developmental and epileptic encephalopathy 17	Enrichment	GNAO1	2.51
117	Basal ganglia calcification, idiopathic, 4	Enrichment	PDGFRB	2.51
118	Immunodeficiency 36 with lymphoproliferation	Enrichment	PIK3R1	2.51
119	Hypocalcemia, autosomal dominant 2	Enrichment	GNA11	2.51
120	Myeloid and lymphoid neoplasms associated with pdgfrb rearrangement	Enrichment	PDGFRB	2.51
121	Agammaglobulinemia 7, autosomal recessive	Enrichment	PIK3R1	2.51
122	Kosaki overgrowth syndrome	Enrichment	PDGFRB	2.51
123	Thrombocytopenia 6	Enrichment	SRC	2.51
124	Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies	Enrichment	RHOA	2.51
125	Ocular pterygium-digital keloid dysplasia syndrome	Enrichment	PDGFRB	2.51
126	Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies	Enrichment	RHOA	2.51
127	Gnao1-related disorder	Enrichment	GNAO1	2.51
128	Phakomatosis cesiomarmorata	Enrichment	GNA11	2.51
129	Egf-related primary hypomagnesemia with intellectual disability	Enrichment	EGF	2.51
130	Malignant astrocytoma	Enrichment	PTPN11	2.51
131	Spermatogenic failure, y-linked, 2	Enrichment	CFTR	2.47
132	Hypomyelination neuropathy-arthrogryposis syndrome	Enrichment	ADCY6	2.45
133	Mccune-albright syndrome	Enrichment	GNAS	2.43
134	Cushing syndrome due to bilateral macronodular adrenocortical disease	Enrichment	GNAS	2.43
135	Pituitary hormone deficiency, combined, 3	Enrichment	LHX3	2.42
136	Adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete	Enrichment	CYP11A1	2.42
137	46,xx sex reversal 4	Enrichment	NR5A1	2.42
138	Spermatogenic failure 8	Enrichment	NR5A1	2.42
139	Hypogonadotropic hypogonadism 23 with or without anosmia	Enrichment	LHB	2.42
140	Ovarian dysgenesis 1	Enrichment	FSHR	2.42
141	Twinning, dizygotic	Enrichment	FSHR	2.42
142	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	Enrichment	PBX1	2.42
143	Heterotaxy, visceral, 5, autosomal	Enrichment	NODAL	2.42
144	Ovary adenocarcinoma	Enrichment	INHBA	2.42
145	Ovarian hyperstimulation syndrome	Enrichment	FSHR	2.42
146	Neuroendocrine tumor	Enrichment	CDKN1B	2.42
147	Amenorrhea	Enrichment	FSHR	2.42
148	Premature ovarian failure 7	Enrichment	NR5A1	2.42
149	Loeys-dietz syndrome 6	Enrichment	SMAD2	2.42
150	Congenital heart defects, multiple types, 8, with or without heterotaxy	Enrichment	SMAD2	2.42
151	Heritable thoracic aortic disease	Enrichment	SMAD4	2.42
152	Isolated gonadotropin-releasing hormone deficiency	Enrichment	GNRHR	2.42
153	Rickets	Enrichment	VDR	2.42
154	Inherited isolated adrenal insufficiency due to partial cyp11a1 deficiency	Enrichment	CYP11A1	2.42
155	Non-classic congenital lipoid adrenal hyperplasia due to star deficency	Enrichment	STAR	2.42
156	Classic congenital lipoid adrenal hyperplasia due to star deficency	Enrichment	STAR	2.42
157	Pancreatic cancer	Enrichment	ACVR1B, SMAD4	2.41
158	Carney complex variant	Enrichment	PRKAR1A	2.38
159	Arrhythmogenic right ventricular dysplasia, familial, 10	Enrichment	PRKAR1A	2.38
160	Cardiomyopathy, familial hypertrophic, 2	Enrichment	TNNT2	2.36
161	Hypertension and brachydactyly syndrome	Enrichment	PDE3A	2.36
162	Glycogen storage disease v	Enrichment	PYGM	2.36
163	Cardiomyopathy, dilated, 2a	Enrichment	TNNI3	2.36
164	Cardiomyopathy, familial restrictive, 3	Enrichment	TNNT2	2.36
165	Cardiomyopathy, familial hypertrophic, 7	Enrichment	TNNI3	2.36
166	Intellectual developmental disorder, autosomal recessive 63	Enrichment	CAMK2A	2.36
167	Intellectual developmental disorder, autosomal dominant 54	Enrichment	CAMK2B	2.36
168	Brugada syndrome 3	Enrichment	CACNA1C	2.36
169	Acrodysostosis 2 with or without hormone resistance	Enrichment	PDE4D	2.36
170	Cardiomyopathy, dilated, 1z	Enrichment	TNNC1	2.36
171	Cardiomyopathy, familial hypertrophic, 13	Enrichment	TNNC1	2.36
172	Takenouchi-kosaki syndrome	Enrichment	CDC42	2.36
173	Intellectual developmental disorder, autosomal dominant 53	Enrichment	CAMK2A	2.36
174	Intellectual developmental disorder, autosomal dominant 59	Enrichment	CAMK2G	2.36
175	Pparg-associated congenital generalized lipodystrophy	Enrichment	PPARG	2.36
176	Rhabdomyolysis 2	Enrichment	ATP2A2	2.36
177	Nocarh syndrome	Enrichment	CDC42	2.36
178	Atypical timothy syndrome	Enrichment	CACNA1C	2.36
179	Timothy syndrome type 2	Enrichment	CACNA1C	2.36
180	Timothy syndrome type 1	Enrichment	CACNA1C	2.36
181	Cacna1c-related disorders	Enrichment	CACNA1C	2.36
182	Chorea, benign hereditary	Enrichment	ADCY5	2.33
183	Pseudohypoparathyroidism, type ib	Enrichment	GNAS	2.30
184	Dilated cardiomyopathy	Enrichment	PLN, TNNI3, TNNT2	2.30
185	Nuchal bleb, familial	Enrichment	CFTR	2.29
186	Hyperekplexia 1	Enrichment	GLRA1	2.24
187	Phoar2-enteropathy syndrome	Enrichment	SLCO2A1	2.24
188	Intellectual developmental disorder, x-linked, syndromic, pilorge type	Enrichment	GLRA2	2.24
189	Bilateral generalized polymicrogyria	Enrichment	GRIN1	2.24
190	Intellectual developmental disorder, autosomal dominant 21	Enrichment	GRIN2A	2.24
191	Developmental and epileptic encephalopathy 46	Enrichment	GRIN2D	2.24
192	Primary hypertrophic osteoarthropathy	Enrichment	SLCO2A1	2.24
193	Rolandic epilepsy-speech dyspraxia syndrome	Enrichment	GRIN2A	2.24
194	Epilepsy-aphasia spectrum	Enrichment	GRIN2A	2.24
195	Epilepsy	Enrichment	GRIN2A, GRIN2B	2.23
196	Benign epilepsy with centrotemporal spikes	Enrichment	GRIN1, GRIN2A	2.21
197	Adrenocortical carcinoma	Enrichment	PRKAR1A	2.21
198	Myeloproliferative disorder, chronic, with eosinophilia	Enrichment	PDGFRB	2.21
199	Pituitary adenoma 4, acth-secreting	Enrichment	GNAI2	2.21
200	Cutis marmorata telangiectatica congenita	Enrichment	GNA11	2.21
201	Dermatofibrosarcoma protuberans	Enrichment	PDGFB	2.21
202	Werner syndrome	Enrichment	PTPN11	2.21
203	Infantile myofibromatosis	Enrichment	PDGFRB	2.21
204	Autosomal dominant hypocalcemia	Enrichment	GNA11	2.21
205	Hypopituitarism	Enrichment	GNAI2	2.21
206	Centralopathic epilepsy	Enrichment	GRIN1, GRIN2A	2.17
207	Idiopathic bronchiectasis	Enrichment	CFTR	2.17
208	Familial adult myoclonic epilepsy	Enrichment	ADRA2B	2.15
209	West syndrome	Enrichment	GRIN1, GRIN2B	2.15
210	Burkitt lymphoma	Enrichment	MYC	2.12
211	Myhre syndrome	Enrichment	SMAD4	2.12
212	Precocious puberty, male-limited	Enrichment	LHCGR	2.12
213	Leydig cell hypoplasia, type i	Enrichment	LHCGR	2.12
214	Hypogonadotropic hypogonadism 24 with or without anosmia	Enrichment	FSHB	2.12
215	Toe syndactyly, telecanthus, and anogenital and renal malformations	Enrichment	STAR	2.12
216	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Enrichment	SMAD4	2.12
217	Heterotaxy, visceral, 4, autosomal	Enrichment	ACVR2B	2.12
218	Multiple endocrine neoplasia, type iv	Enrichment	CDKN1B	2.12
219	Loeys-dietz syndrome 3	Enrichment	SMAD3	2.12
220	46,xy sex reversal 3	Enrichment	NR5A1	2.12
221	Leydig cell hypoplasia type ii	Enrichment	LHCGR	2.12
222	B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)	Enrichment	PBX1	2.12
223	Brachydactyly-elbow wrist dysplasia syndrome	Enrichment	PITX1	2.12
224	Renal hypoplasia, bilateral	Enrichment	PBX1	2.12
225	Inherited cancer-predisposing syndrome	Enrichment	EGFR, PRKAR1A, PTPN11	2.11
226	Asthma, nasal polyps, and aspirin intolerance	Enrichment	PTGER2	2.07
227	Auditory neuropathy and optic atrophy	Enrichment	GRIN2C	2.07
228	Hypertrophic osteoarthropathy, primary, autosomal recessive, 1	Enrichment	SLCO2A1	2.07
229	Hereditary sodium channelopathy-related small fibers neuropathy	Enrichment	SCN10A	2.07
230	Cardiomyopathy, familial restrictive, 1	Enrichment	TNNI3	2.06
231	Acrokeratosis verruciformis	Enrichment	ATP2A2	2.06
232	Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome	Enrichment	RYR2	2.06
233	Brody disease	Enrichment	ATP2A1	2.06
234	Timothy syndrome	Enrichment	CACNA1C	2.06
235	Carotid intimal medial thickness 1	Enrichment	PPARG	2.06
236	Cardiomyopathy, dilated, 1p	Enrichment	PLN	2.06
237	Chromosome 5q12 deletion syndrome	Enrichment	PDE4D	2.06
238	Cardiomyopathy, familial hypertrophic, 25	Enrichment	TNNI3	2.06
239	Cardiomyopathy, dilated, 1dd	Enrichment	TNNT2	2.06
240	Cardiomyopathy, familial hypertrophic, 18	Enrichment	PLN	2.06
241	Cardiomyopathy, dilated, 1ff	Enrichment	TNNI3	2.06
242	Long qt syndrome 8	Enrichment	CACNA1C	2.06
243	Cardiomyopathy, dilated, 1d	Enrichment	TNNT2	2.06
244	Ventricular tachycardia, catecholaminergic polymorphic, 2	Enrichment	RYR2	2.06
245	Immune system disease	Enrichment	CDC42	2.06
246	Houge-janssens syndrome 3	Enrichment	PPP2CA	2.06
247	Familial partial lipodystrophy	Enrichment	PPARG	2.06
248	Brachydactyly	Enrichment	GNAS	2.06
249	Familial hypertrophic cardiomyopathy	Enrichment	TNNI3, TNNT2	2.05
250	Autosomal dominant non-syndromic intellectual disability	Enrichment	GRIN1, GRIN2B	2.04
251	Neonatal nephrocutaneous inflammatory syndrome	Enrichment	EGFR	2.03
252	Immunodeficiency 14a with lymphoproliferation, autosomal dominant	Enrichment	PIK3R1	2.03
253	Immunodeficiency 14	Enrichment	PIK3R1	2.03
254	Neonatal inflammatory skin and bowel disease	Enrichment	EGFR	2.03
255	Tricuspid valve insufficiency	Enrichment	PTPN11	2.03
256	Thrombocytopenia	Enrichment	PTPN11, SRC	2.02
257	Spastic paraplegia 4, autosomal dominant	Enrichment	GNAS	2.00
258	Primary hyperaldosteronism	Enrichment	GNAS	1.95
259	Laurin-sandrow syndrome	Enrichment	PITX1	1.95
260	Juvenile polyposis syndrome	Enrichment	SMAD4	1.95
261	46,xx sex reversal 1	Enrichment	NR5A1	1.95
262	Transposition of the great arteries, dextro-looped	Enrichment	ACVR1B	1.95
263	Hurler syndrome	Enrichment	PITX1	1.95
264	High-grade b-cell lymphoma double-hit/triple-hit	Enrichment	MYC	1.95
265	Loeys-dietz syndrome 1	Enrichment	SMAD2	1.95
266	Gonadal dysgenesis	Enrichment	FSHR	1.95
267	Erythermalgia, primary	Enrichment	SCN10A	1.94
268	Astigmatism	Enrichment	GRIN2B	1.94
269	Auriculocondylar syndrome 1	Enrichment	GNAI3	1.91
270	Megalencephaly-capillary malformation-polymicrogyria syndrome	Enrichment	PIK3R2	1.91
271	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Enrichment	PIK3R2	1.91
272	Achromatopsia 4	Enrichment	GNAI3	1.91
273	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	Enrichment	PTPN11	1.91
274	Noonan syndrome with multiple lentigines	Enrichment	PTPN11	1.91
275	Darier-white disease	Enrichment	ATP2A2	1.89
276	Lipodystrophy, familial partial, type 6	Enrichment	LIPE	1.89
277	Lipodystrophy, familial partial, type 4	Enrichment	PLIN1	1.89
278	Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures	Enrichment	CACNA1C	1.89
279	Intrinsic cardiomyopathy	Enrichment	PLN	1.89
280	Acute promyelocytic leukemia	Enrichment	PRKAR1A	1.87
281	Paroxysmal extreme pain disorder	Enrichment	SCN10A	1.84
282	Sleep disorder	Enrichment	GRIN2B	1.84
283	Spermatogenic failure 1	Enrichment	NR5A1	1.83
284	Aortic aneurysm	Enrichment	SMAD3	1.83
285	Primary hyperparathyroidism	Enrichment	CDKN1B	1.83
286	Bronchiectasis with or without elevated sweat chloride 1	Enrichment	CFTR	1.82
287	Vas deferens, congenital bilateral aplasia of	Enrichment	CFTR	1.82
288	Lymphoma	Enrichment	PTPN11	1.81
289	Primary hypereosinophilic syndrome	Enrichment	PDGFRB	1.81
290	Lipodystrophy, familial partial, type 3	Enrichment	PPARG	1.76
291	Leptin deficiency or dysfunction	Enrichment	PPARG	1.76
292	Congenital generalized lipodystrophy	Enrichment	PPARG	1.76
293	Paroxysmal familial ventricular fibrillation	Enrichment	RYR2	1.76
294	Klippel-trenaunay-weber syndrome	Enrichment	GNAQ	1.73
295	Cowden syndrome 1	Enrichment	EGFR	1.73
296	Hemihyperplasia, isolated	Enrichment	RHOA	1.73
297	Patent ductus arteriosus	Enrichment	PTPN11	1.73
298	Lung squamous cell carcinoma	Enrichment	EGFR	1.73
299	Vitamin d-dependent rickets, type 2a	Enrichment	VDR	1.73
300	Pseudohermaphroditism	Enrichment	LHCGR	1.73
301	Nonsyndromic 46,xx testicular disorders/differences of sex development	Enrichment	NR5A1	1.73
302	2q23.1 microduplication syndrome	Enrichment	ACVR2A	1.73
303	Familial glucocorticoid deficiency	Enrichment	STAR	1.73
304	Generalized juvenile polyposis/juvenile polyposis coli	Enrichment	SMAD4	1.73
305	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	Enrichment	LHX3	1.73
306	Brugada syndrome 1	Enrichment	SCN10A	1.70
307	Neuropathy, hereditary sensory and autonomic, type v	Enrichment	SCN10A	1.70
308	Myelofibrosis	Enrichment	SRC	1.67
309	Squamous cell carcinoma, head and neck	Enrichment	EGFR	1.67
310	Noonan syndrome 3	Enrichment	PTPN11	1.67
311	Overgrowth syndrome	Enrichment	PIK3R1	1.67
312	Cardiac arrest	Enrichment	PLN	1.67
313	Phosphorylase kinase deficiency	Enrichment	PHKA1	1.67
314	Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency	Enrichment	CYP11A1	1.65
315	46,xy disorder of sex development	Enrichment	NR5A1	1.65
316	Infertility	Enrichment	GNRHR	1.65
317	21-hydroxylase-deficient congenital adrenal hyperplasia	Enrichment	CYP11A1	1.65
318	Hereditary chronic pancreatitis	Enrichment	CFTR	1.63
319	Choreatic disease	Enrichment	GNAO1	1.61
320	Lynch syndrome	Enrichment	CFTR	1.60
321	Gallbladder cancer	Enrichment	SMAD4	1.58
322	Hereditary hemorrhagic telangiectasia	Enrichment	SMAD4	1.58
323	Adult hepatocellular carcinoma	Enrichment	EGF	1.56
324	Pancreatitis, hereditary	Enrichment	CFTR	1.55
325	Colorectal cancer	Enrichment	PIK3R1, SRC	1.53
326	Difference of sex development	Enrichment	NR5A1	1.53
327	Combined pituitary hormone deficiency	Enrichment	LHX3	1.53
328	Autosomal non-syndromic agammaglobulinemia	Enrichment	PIK3R1	1.52
329	Hypogonadotropic hypogonadism	Enrichment	GNRHR	1.48
330	Familial thoracic aortic aneurysm and dissection	Enrichment	SMAD3	1.48
331	Pectus excavatum	Enrichment	PTPN11	1.47
332	Meningioma, familial	Enrichment	PDGFB	1.47
333	Lung non-small cell carcinoma	Enrichment	EGFR	1.47
334	Movement disease	Enrichment	GNAO1	1.47
335	Specific learning disability	Enrichment	PTPN11	1.47
336	Epicanthus	Enrichment	PTPN11	1.44
337	Juvenile myelomonocytic leukemia	Enrichment	PTPN11	1.44
338	Meningioma	Enrichment	PDGFB	1.44
339	Lip and oral cavity carcinoma	Enrichment	EGFR	1.44
340	Congenital long qt syndrome	Enrichment	PTPN11	1.44
341	Arrhythmogenic right ventricular dysplasia, familial, 9	Enrichment	PLN	1.41
342	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	Enrichment	CACNA1C	1.41
343	46,xy complete gonadal dysgenesis	Enrichment	NR5A1	1.39
344	Osteoporosis	Enrichment	SRC	1.37
345	Lung cancer susceptibility 3	Enrichment	EGFR	1.37
346	Hydrocephalus	Enrichment	PDGFRB	1.34
347	Rare genetic intellectual disability	Enrichment	GNAO1	1.34
348	Noonan syndrome and noonan-related syndrome	Enrichment	PTPN11	1.34
349	Glycogen storage disease	Enrichment	PYGM	1.33
350	Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly	Enrichment	PITX1	1.32
351	Pulmonary disease, chronic obstructive	Enrichment	VDR	1.32
352	Clubfoot	Enrichment	PITX1	1.32
353	Gliosarcoma	Enrichment	EGFR	1.31
354	Early infantile developmental and epileptic encephalopathy	Enrichment	GRIN1	1.30
355	Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant	Enrichment	RYR2	1.29
356	Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant	Enrichment	RYR2	1.29
357	Dandy-walker syndrome	Enrichment	PDGFRB	1.29
358	Giant cell glioblastoma	Enrichment	EGFR	1.29
359	Hypogonadotropic hypogonadism 7 with or without anosmia	Enrichment	GNRHR	1.29
360	Aortic aneurysm, familial thoracic 1	Enrichment	SMAD3	1.29
361	46,xy partial gonadal dysgenesis	Enrichment	NR5A1	1.29
362	Cystic fibrosis	Enrichment	CFTR	1.28
363	Patent foramen ovale	Enrichment	PTPN11	1.27
364	Septopreoptic holoprosencephaly	Enrichment	NODAL	1.26
365	Midline interhemispheric variant of holoprosencephaly	Enrichment	NODAL	1.26
366	Microcephaly	Enrichment	GNAO1, PTPN11	1.26
367	Craniosynostosis	Enrichment	GRIN2B	1.25
368	Male infertility	Enrichment	CFTR	1.25
369	Arteriovenous malformations of the brain	Enrichment	EGFR	1.24
370	Wolff-parkinson-white syndrome	Enrichment	NODAL	1.23
371	Perrault syndrome 1	Enrichment	FSHR	1.23
372	Microform holoprosencephaly	Enrichment	NODAL	1.23
373	Lobar holoprosencephaly	Enrichment	NODAL	1.23
374	Melanoma, cutaneous malignant 1	Enrichment	CDKN2B	1.21
375	Alobar holoprosencephaly	Enrichment	NODAL	1.21
376	Heart, malformation of	Enrichment	NODAL	1.18
377	Semilobar holoprosencephaly	Enrichment	NODAL	1.18
378	Normosmic congenital hypogonadotropic hypogonadism	Enrichment	GNRHR	1.18
379	Scoliosis	Enrichment	GRIN2B	1.18
380	Arrhythmogenic right ventricular cardiomyopathy	Enrichment	RYR2	1.17
381	Noonan syndrome 1	Enrichment	PTPN11	1.16
382	Ehlers-danlos syndrome	Enrichment	SMAD3	1.16
383	Developmental and epileptic encephalopathy 1	Enrichment	GRIN1	1.16
384	Cardiomyopathy, dilated, 1e	Enrichment	TNNC1	1.15
385	Brugada syndrome	Enrichment	SCN10A	1.14
386	Primary ciliary dyskinesia	Enrichment	PRKAR1B	1.12
387	Hydrops fetalis, nonimmune	Enrichment	PTPN11	1.11
388	Rasopathy	Enrichment	PTPN11	1.11
389	Hepatocellular carcinoma	Enrichment	VDR	1.10
390	Strabismus	Enrichment	PTPN11	1.09
391	Precursor t-cell acute lymphoblastic leukemia	Enrichment	MYC	1.08
392	Bladder cancer	Enrichment	EGFR	1.07
393	Cardiomyopathy, dilated, 1a	Enrichment	TNNI3	1.06
394	Rare autosomal recessive non-syndromic sensorineural deafness type dfnb	Enrichment	ADCY1	1.06
395	Male infertility with azoospermia or oligozoospermia due to single gene mutation	Enrichment	CFTR	1.04
396	Non-immune hydrops fetalis	Enrichment	PTPN11	1.04
397	Lung cancer	Enrichment	EGFR	1.02
398	Autism	Enrichment	NBEA	1.00
399	Complex neurodevelopmental disorder	Enrichment	CACNA1C, PPP2CA	0.99
400	Developmental and epileptic encephalopathy	Enrichment	GNAO1	0.98
401	Cerebral palsy	Enrichment	GRIN2B	0.97
402	Visceral heterotaxy 5	Enrichment	NODAL	0.96
403	Connective tissue disease	Enrichment	SMAD3	0.94
404	Differentiated thyroid carcinoma	Enrichment	PPARG	0.92
405	Dystonia	Enrichment	CAMK2B	0.85
406	Autism spectrum disorder	Enrichment	NBEA	0.83
407	Undetermined early-onset epileptic encephalopathy	Enrichment	GRIN2D	0.83
408	Gastric cancer	Enrichment	SMAD4	0.82
409	Autosomal recessive non-syndromic intellectual disability	Enrichment	GRIN1	0.81
410	Myeloma, multiple	Enrichment	PIK3R2	0.80
411	Type 2 diabetes mellitus	Enrichment	PPARG	0.78
412	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	Enrichment	PPARGC1A	0.65
413	Breast cancer	Enrichment	CDKN2B	0.61
414	Ovarian cancer	Enrichment	EGFR	0.57
415	Congenital nervous system abnormality	Enrichment	GNAO1	0.55
416	Nervous system disease	Enrichment	GNAO1	0.55
417	Retinitis pigmentosa	Enrichment	AHR	0.31

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

Beta-2 adrenergic-dependent CFTR expression

Pathway Network for Beta-2 adrenergic-dependent CFTR expression

Pathway network for the Beta-2 adrenergic-dependent CFTR expression SuperPath

Member Pathways for Beta-2 adrenergic-dependent CFTR expression

Pathways in the Beta-2 adrenergic-dependent CFTR expression SuperPath

Gene overlap in member pathways for Beta-2 adrenergic-dependent CFTR expression SuperPath

Associated Genes for Beta-2 adrenergic-dependent CFTR expression

Associated Disorders for Beta-2 adrenergic-dependent CFTR expression

Disorders associated with Beta-2 adrenergic-dependent CFTR expression SuperPath

STRING Interaction Network for Beta-2 adrenergic-dependent CFTR expression

Sources for Beta-2 adrenergic-dependent CFTR expression