Regulation of CFTR activity (norm and CF)

Pathway network for the Regulation of CFTR activity (norm and CF) SuperPath

Sources:

GeneGo (Thomson Reuters)

Pathways in the Regulation of CFTR activity (norm and CF) SuperPath

#	Name	Source	Genes
1	Regulation of CFTR activity (norm and CF)	GeneGo (Thomson Reuters)	ADCY1 ADCY2 ADCY3 ADCY4 ADCY5 ADCY6 ADCY7 ADCY8 ADCY9 ADORA2B ADRB2 ANXA2 ANXA5 CFTR COMMD1 CSNK2A1 CSNK2A2 CSNK2B EZR FLNA FLNB GNAI1 GNAI2 GNAI3 GNAO1 GNAS GNAZ LPAR2 NHERF1 NHERF2 PDE4D PDP1 PDZK1 PPM1A PPM1B PPM1D PPM1F PPM1G PPM1L PPP2CA PPP2CB PPP2R1A PPP2R1B PPP2R2A PPP2R2B PPP2R2C PPP2R3A PPP2R3B PPP2R5A PPP2R5B PPP2R5C PPP2R5D PPP2R5E PPP3CA PPP3CB PPP3CC PPTC7 PRKAA1 PRKAB1 PRKAB2 PRKACA PRKACB PRKACG PRKAG1 PRKAR1A PRKAR1B PRKAR2A PRKAR2B PRKCE PRKG2 PTPA PTPN11 RACK1 S100A10 SHANK2 SNAP23 STX1A STXBP1 TUBA1A TUBA1B TUBA1C TUBA3C TUBA3D TUBA3E TUBA4A TUBA4B TUBA8 TUBAL3 TUBB TUBB1 TUBB2A TUBB2B TUBB3 TUBB4A TUBB4B TUBB6 TUBB7P TUBB8 (see all 98) (see less)
2	wtCFTR and deltaF508 traffic / Membrane expression (norm and CF)	GeneGo (Thomson Reuters)	ADRB2 CFTR COMMD1 EHD1 EZR FLNA FLNB MYO5B NHERF1 NHERF2 PRKACA PRKACB PRKACG PRKAR1A PRKAR1B PRKAR2A PRKAR2B PRKCE RAB11A RAB11FIP2 RAB4A RAB4B RABEP1 RACK1 RBSN SNAP23 STX1A STXBP1 TUBA1A TUBA1B TUBA1C TUBA3C TUBA3D TUBA3E TUBA4A TUBA4B TUBA8 TUBAL3 TUBB TUBB1 TUBB2A TUBB2B TUBB3 TUBB4A TUBB4B TUBB6 TUBB7P TUBB8 (see all 48) (see less)
3	Regulation of CFTR gating (normal and CF)	GeneGo (Thomson Reuters)	ADCY1 ADCY2 ADCY3 ADCY4 ADCY5 ADCY6 ADCY7 ADCY8 ADCY9 CFTR PDE4D PRKAA1 PRKACA PRKACB PRKACG PRKAG1 PRKAR1A PRKAR1B PRKAR2A PRKAR2B (see all 20) (see less)

Gene overlap in member pathways for Regulation of CFTR activity (norm and CF) SuperPath

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

#	Symbol	Description	Category	# Related Pathways
1	CFTR	CF Transmembrane Conductance Regulator	Protein Coding	3
2	PRKACA	Protein Kinase CAMP-Activated Catalytic Subunit Alpha	Protein Coding	3
3	PRKACB	Protein Kinase CAMP-Activated Catalytic Subunit Beta	Protein Coding	3
4	PRKACG	Protein Kinase CAMP-Activated Catalytic Subunit Gamma	Protein Coding	3
5	PRKAR1A	Protein Kinase CAMP-Dependent Type I Regulatory Subunit Alpha	Protein Coding	3
6	PRKAR1B	Protein Kinase CAMP-Dependent Type I Regulatory Subunit Beta	Protein Coding	3
7	PRKAR2A	Protein Kinase CAMP-Dependent Type II Regulatory Subunit Alpha	Protein Coding	3
8	PRKAR2B	Protein Kinase CAMP-Dependent Type II Regulatory Subunit Beta	Protein Coding	3
9	ADCY1	Adenylate Cyclase 1	Protein Coding	2
10	ADCY2	Adenylate Cyclase 2	Protein Coding	2
11	ADCY3	Adenylate Cyclase 3	Protein Coding	2
12	ADCY5	Adenylate Cyclase 5	Protein Coding	2
13	ADCY6	Adenylate Cyclase 6	Protein Coding	2
14	ADCY7	Adenylate Cyclase 7	Protein Coding	2
15	ADCY8	Adenylate Cyclase 8	Protein Coding	2
16	ADCY9	Adenylate Cyclase 9	Protein Coding	2
17	ADRB2	Adrenoceptor Beta 2	Protein Coding	2
18	FLNA	Filamin A	Protein Coding	2
19	FLNB	Filamin B	Protein Coding	2
20	PDE4D	Phosphodiesterase 4D	Protein Coding	2
21	PRKAA1	Protein Kinase AMP-Activated Catalytic Subunit Alpha 1	Protein Coding	2
22	PRKAG1	Protein Kinase AMP-Activated Non-Catalytic Subunit Gamma 1	Protein Coding	2
23	PRKCE	Protein Kinase C Epsilon	Protein Coding	2
24	STX1A	Syntaxin 1A	Protein Coding	2
25	STXBP1	Syntaxin Binding Protein 1	Protein Coding	2
26	TUBA4A	Tubulin Alpha 4a	Protein Coding	2
27	TUBA3C	Tubulin Alpha 3c	Protein Coding	2
28	TUBB2A	Tubulin Beta 2A Class IIa	Protein Coding	2
29	EZR	Ezrin	Protein Coding	2
30	TUBA1A	Tubulin Alpha 1a	Protein Coding	2
31	SNAP23	Synaptosome Associated Protein 23	Protein Coding	2
32	NHERF2	NHERF Family PDZ Scaffold Protein 2	Protein Coding	2
33	NHERF1	NHERF Family PDZ Scaffold Protein 1	Protein Coding	2
34	TUBA1B	Tubulin Alpha 1b	Protein Coding	2
35	TUBB3	Tubulin Beta 3 Class III	Protein Coding	2
36	TUBB4A	Tubulin Beta 4A Class IVa	Protein Coding	2
37	TUBB4B	Tubulin Beta 4B Class IVb	Protein Coding	2
38	RACK1	Receptor For Activated C Kinase 1	Protein Coding	2
39	TUBA8	Tubulin Alpha 8	Protein Coding	2
40	TUBB7P	Tubulin Beta 7 Pseudogene	Pseudogene	2
41	TUBAL3	Tubulin Alpha Like 3	Protein Coding	2
42	TUBA4B	Tubulin Alpha 4b	Protein Coding	2
43	TUBB1	Tubulin Beta 1 Class VI	Protein Coding	2
44	TUBB6	Tubulin Beta 6 Class V	Protein Coding	2
45	TUBA1C	Tubulin Alpha 1c	Protein Coding	2
46	TUBA3E	Tubulin Alpha 3e	Protein Coding	2
47	TUBA3D	Tubulin Alpha 3d	Protein Coding	2
48	COMMD1	Copper Metabolism Domain Containing 1	Protein Coding	2
49	ADCY4	Adenylate Cyclase 4	Protein Coding	2
50	TUBB	Tubulin Beta Class I	Protein Coding	2
51	TUBB8	Tubulin Beta 8 Class VIII	Protein Coding	2
52	TUBB2B	Tubulin Beta 2B Class IIb	Protein Coding	2
53	ADORA2B	Adenosine A2b Receptor	Protein Coding	1
54	ANXA2	Annexin A2	Protein Coding	1
55	ANXA5	Annexin A5	Protein Coding	1
56	CSNK2A1	Casein Kinase 2 Alpha 1	Protein Coding	1
57	CSNK2A2	Casein Kinase 2 Alpha 2	Protein Coding	1
58	CSNK2B	Casein Kinase 2 Beta	Protein Coding	1
59	GNAI1	G Protein Subunit Alpha I1	Protein Coding	1
60	GNAI2	G Protein Subunit Alpha I2	Protein Coding	1
61	GNAI3	G Protein Subunit Alpha I3	Protein Coding	1
62	GNAO1	G Protein Subunit Alpha O1	Protein Coding	1
63	GNAS	GNAS Complex Locus	Protein Coding	1
64	GNAZ	G Protein Subunit Alpha Z	Protein Coding	1
65	PDZK1	PDZ Domain Containing 1	Protein Coding	1
66	PPM1A	Protein Phosphatase, Mg2+/Mn2+ Dependent 1A	Protein Coding	1
67	PPM1B	Protein Phosphatase, Mg2+/Mn2+ Dependent 1B	Protein Coding	1
68	PPM1G	Protein Phosphatase, Mg2+/Mn2+ Dependent 1G	Protein Coding	1
69	PPP2CA	Protein Phosphatase 2 Catalytic Subunit Alpha	Protein Coding	1
70	PPP2CB	Protein Phosphatase 2 Catalytic Subunit Beta	Protein Coding	1
71	PPP2R1A	Protein Phosphatase 2 Scaffold Subunit Aalpha	Protein Coding	1
72	PPP2R1B	Protein Phosphatase 2 Scaffold Subunit Abeta	Protein Coding	1
73	PPP2R2A	Protein Phosphatase 2 Regulatory Subunit Balpha	Protein Coding	1
74	PPP2R2B	Protein Phosphatase 2 Regulatory Subunit Bbeta	Protein Coding	1
75	PPP2R2C	Protein Phosphatase 2 Regulatory Subunit Bgamma	Protein Coding	1
76	PPP2R3A	Protein Phosphatase 2 Regulatory Subunit B''''Alpha	Protein Coding	1
77	PTPA	Protein Phosphatase 2 Phosphatase Activator	Protein Coding	1
78	PPP2R5A	Protein Phosphatase 2 Regulatory Subunit B''Alpha	Protein Coding	1
79	PPP2R5B	Protein Phosphatase 2 Regulatory Subunit B''Beta	Protein Coding	1
80	PPP2R5C	Protein Phosphatase 2 Regulatory Subunit B''Gamma	Protein Coding	1
81	PPP2R5D	Protein Phosphatase 2 Regulatory Subunit B''Delta	Protein Coding	1
82	PPP2R5E	Protein Phosphatase 2 Regulatory Subunit B''Epsilon	Protein Coding	1
83	PPP3CA	Protein Phosphatase 3 Catalytic Subunit Alpha	Protein Coding	1
84	PPP3CB	Protein Phosphatase 3 Catalytic Subunit Beta	Protein Coding	1
85	PPP3CC	Protein Phosphatase 3 Catalytic Subunit Gamma	Protein Coding	1
86	PRKAB1	Protein Kinase AMP-Activated Non-Catalytic Subunit Beta 1	Protein Coding	1
87	PRKAB2	Protein Kinase AMP-Activated Non-Catalytic Subunit Beta 2	Protein Coding	1
88	PRKG2	Protein Kinase CGMP-Dependent 2	Protein Coding	1
89	PTPN11	Protein Tyrosine Phosphatase Non-Receptor Type 11	Protein Coding	1
90	S100A10	S100 Calcium Binding Protein A10	Protein Coding	1
91	PPM1D	Protein Phosphatase, Mg2+/Mn2+ Dependent 1D	Protein Coding	1
92	LPAR2	Lysophosphatidic Acid Receptor 2	Protein Coding	1
93	PPM1F	Protein Phosphatase, Mg2+/Mn2+ Dependent 1F	Protein Coding	1
94	SHANK2	SH3 And Multiple Ankyrin Repeat Domains 2	Protein Coding	1
95	PPP2R3B	Protein Phosphatase 2 Regulatory Subunit B''''Beta~Name Same As:- HGNC:9310	Protein Coding	1
96	PDP1	Pyruvate Dehydrogenase Phosphatase Catalytic Subunit 1	Protein Coding	1
97	PPM1L	Protein Phosphatase, Mg2+/Mn2+ Dependent 1L	Protein Coding	1
98	PPTC7	Protein Phosphatase Targeting COQ7	Protein Coding	1
99	MYO5B	Myosin VB	Protein Coding	1
100	RAB4A	RAB4A, Member RAS Oncogene Family	Protein Coding	1
101	RAB11A	RAB11A, Member RAS Oncogene Family	Protein Coding	1
102	RABEP1	Rabaptin, RAB GTPase Binding Effector Protein 1	Protein Coding	1
103	EHD1	EH Domain Containing 1	Protein Coding	1
104	RAB11FIP2	RAB11 Family Interacting Protein 2	Protein Coding	1
105	RAB4B	RAB4B, Member RAS Oncogene Family	Protein Coding	1
106	RBSN	Rabenosyn, RAB Effector	Protein Coding	1

Disorders associated with Regulation of CFTR activity (norm and CF) SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Lissencephaly	Enrichment	TUBA1A, TUBA3E, TUBB, TUBB2B, TUBB3	8.06
2	Tubulinopathy-associated dysgyria	Enrichment	TUBA1A, TUBB2B, TUBB3	7.38
3	Tubulinopathy	Enrichment	TUBA1A, TUBB2A, TUBB2B	6.78
4	Congenital fibrosis of the extraocular muscles	Enrichment	TUBA1A, TUBB2B, TUBB3	6.08
5	Acrodysostosis	Enrichment	PDE4D, PRKAR1A	5.69
6	Pigmented nodular adrenocortical disease, primary, 1	Enrichment	GNAS, PRKAR1A	4.29
7	Ellis-van creveld syndrome	Enrichment	PRKACA, PRKACB	4.13
8	Polymicrogyria, bilateral perisylvian, x-linked	Enrichment	TUBA1A, TUBB2B	3.59
9	Bilateral perisylvian polymicrogyria	Enrichment	TUBA1A, TUBB2B	3.36
10	Autosomal dominant macrothrombocytopenia	Enrichment	TUBA8, TUBB1	3.27
11	Patent ductus arteriosus	Enrichment	FLNA, PTPN11	3.12
12	Autism spectrum disorder	Enrichment	CSNK2A1, CSNK2B, PTPN11, SHANK2, STXBP1	2.94
13	Isolated congenital microcephaly	Enrichment	RAB11A, TUBA3E	2.85
14	Acrodysostosis 1 with or without hormone resistance	Enrichment	PRKAR1A	2.83
15	Carney complex, type 1	Enrichment	PRKAR1A	2.83
16	Dyskinesia with orofacial involvement, autosomal dominant	Enrichment	ADCY5	2.83
17	Deafness, autosomal recessive 44	Enrichment	ADCY1	2.83
18	Neurodevelopmental disorder with hyperkinetic movements and dyskinesia	Enrichment	ADCY5	2.83
19	Cardioacrofacial dysplasia 2	Enrichment	PRKACB	2.83
20	Myxoma, intracardiac	Enrichment	PRKAR1A	2.83
21	Dyskinesia with orofacial involvement, autosomal recessive	Enrichment	ADCY5	2.83
22	Acrodysostosis 2 with or without hormone resistance	Enrichment	PDE4D	2.83
23	Pigmented nodular adrenocortical disease, primary, 4	Enrichment	PRKACA	2.83
24	Cardioacrofacial dysplasia 1	Enrichment	PRKACA	2.83
25	Prkar1b-related neurodegenerative dementia with intermediate filaments	Enrichment	PRKAR1B	2.83
26	Aquagenic palmoplantar keratoderma	Enrichment	CFTR	2.83
27	Amelogenesis imperfecta, type ig	Enrichment	PRKAR1A	2.53
28	Spermatogenic failure, y-linked, 2	Enrichment	CFTR	2.53
29	Lethal congenital contracture syndrome 8	Enrichment	ADCY6	2.53
30	Bleeding disorder, platelet-type, 19	Enrichment	PRKACG	2.53
31	Chromosome 5q12 deletion syndrome	Enrichment	PDE4D	2.53
32	Marbach-schaaf neurodevelopmental syndrome	Enrichment	PRKAR1B	2.53
33	Usher syndrome, type iv	Enrichment	PRKAR1A	2.53
34	Body mass index quantitative trait locus 19	Enrichment	ADCY3	2.53
35	Fibrolamellar carcinoma	Enrichment	PRKACA	2.53
36	Ciliary dyskinesia, primary, 18	Enrichment	PRKAR1B	2.53
37	Isolated primary pigmented nodular adrenocortical disease	Enrichment	PRKAR1A	2.53
38	Boomerang dysplasia	Enrichment	FLNB	2.45
39	Skin creases, congenital symmetric circumferential, 1	Enrichment	TUBB	2.45
40	Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement	Enrichment	TUBB3	2.45
41	Otopalatodigital syndrome, type i	Enrichment	FLNA	2.45
42	Intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linked	Enrichment	FLNA	2.45
43	Nephrolithiasis/osteoporosis, hypophosphatemic, 2	Enrichment	NHERF1	2.45
44	Atelosteogenesis, type iii	Enrichment	FLNB	2.45
45	Atelosteogenesis, type i	Enrichment	FLNB	2.45
46	Cortical dysplasia, complex, with other brain malformations 6	Enrichment	TUBB	2.45
47	Macrothrombocytopenia, isolated, 1, autosomal dominant	Enrichment	TUBB1	2.45
48	Leber congenital amaurosis with early-onset deafness	Enrichment	TUBB4B	2.45
49	Terminal osseous dysplasia	Enrichment	FLNA	2.45
50	Fg syndrome 2	Enrichment	FLNA	2.45
51	Myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities	Enrichment	RBSN	2.45
52	Oocyte/zygote/embryo maturation arrest 24	Enrichment	TUBA1C	2.45
53	Otopalatodigital syndrome spectrum disorder	Enrichment	FLNA	2.45
54	Cortical dysplasia, complex, with other brain malformations 7	Enrichment	TUBB2B	2.45
55	Oocyte/zygote/embryo maturation arrest 23	Enrichment	TUBA4A	2.45
56	Frontotemporal dementia and/or amyotrophic lateral sclerosis 9	Enrichment	TUBA4A	2.45
57	X-linked ehlers-danlos syndrome	Enrichment	FLNA	2.45
58	Facial palsy, congenital, with ptosis and velopharyngeal dysfunction	Enrichment	TUBB6	2.45
59	Macrothrombocytopenia, isolated, 2, autosomal dominant	Enrichment	TUBA8	2.45
60	Lissencephaly due to tuba1a mutation	Enrichment	TUBA1A	2.45
61	Congenital myopathy 26	Enrichment	TUBA4A	2.45
62	Spastic ataxia 11, autosomal dominant	Enrichment	TUBA4A	2.45
63	Amyotrophic lateral sclerosis type 22	Enrichment	TUBA4A	2.45
64	Flnb-related disorders	Enrichment	FLNB	2.45
65	Kariminejad neurodevelopmental syndrome	Enrichment	RBSN	2.45
66	Polymicrogyria with optic nerve hypoplasia	Enrichment	TUBA8	2.45
67	X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome	Enrichment	FLNA	2.45
68	West syndrome	Enrichment	GNAO1, STXBP1, TUBA1A	2.41
69	Nuchal bleb, familial	Enrichment	CFTR	2.35
70	Hypomyelination neuropathy-arthrogryposis syndrome	Enrichment	ADCY6	2.35
71	Autosomal dominant non-syndromic intellectual disability	Enrichment	CSNK2B, PPM1D, PPP3CA	2.25
72	Cystic fibrosis	Enrichment	CFTR, STX1A	2.25
73	Chorea, benign hereditary	Enrichment	ADCY5	2.23
74	Carney complex variant	Enrichment	PRKAR1A	2.23
75	Arrhythmogenic right ventricular dysplasia, familial, 10	Enrichment	PRKAR1A	2.23
76	Idiopathic bronchiectasis	Enrichment	CFTR	2.23
77	Dystonia 4, torsion, autosomal dominant	Enrichment	TUBB4A	2.15
78	Diarrhea 2, with microvillus atrophy, with or without cholestasis	Enrichment	MYO5B	2.15
79	Visceral neuropathy, familial, 1, autosomal recessive	Enrichment	FLNA	2.15
80	Otopalatodigital syndrome, type ii	Enrichment	FLNA	2.15
81	Melnick-needles syndrome	Enrichment	FLNA	2.15
82	Frontometaphyseal dysplasia 1	Enrichment	FLNA	2.15
83	Muscular dystrophy, limb-girdle, autosomal recessive 3	Enrichment	TUBA1A	2.15
84	Cholestasis, progressive familial intrahepatic, 10	Enrichment	MYO5B	2.15
85	Cardiac valvular dysplasia, x-linked	Enrichment	FLNA	2.15
86	Hypophosphatemia	Enrichment	NHERF1	2.15
87	Keratoconus 9	Enrichment	TUBA3D	2.15
88	Autosomal recessive limb-girdle muscular dystrophy type 2d	Enrichment	TUBA1A	2.15
89	Lissencephaly 3	Enrichment	TUBA1A	2.15
90	Cortical dysplasia, complex, with other brain malformations 1	Enrichment	TUBB3	2.15
91	9q33.3q34.11 microdeletion syndrome	Enrichment	STXBP1	2.15
92	Torsion dystonia 4	Enrichment	TUBB4A	2.15
93	Multiple benign circumferential skin creases on limbs	Enrichment	TUBB	2.15
94	Dominant hypophosphatemia with nephrolithiasis or osteoporosis	Enrichment	NHERF1	2.15
95	Continuous spikes and waves during sleep	Enrichment	TUBA1A	2.15
96	Metachondromatosis	Enrichment	PTPN11	2.14
97	Pseudohypoparathyroidism, type ic	Enrichment	GNAS	2.14
98	Spinocerebellar ataxia 12	Enrichment	PPP2R2B	2.14
99	Osseous heteroplasia, progressive	Enrichment	GNAS	2.14
100	Leopard syndrome 1	Enrichment	PTPN11	2.14
101	Autism 17	Enrichment	SHANK2	2.14
102	Neurodevelopmental disorder with involuntary movements	Enrichment	GNAO1	2.14
103	Ventricular tachycardia, familial	Enrichment	GNAI2	2.14
104	Acth-independent macronodular adrenal hyperplasia 1	Enrichment	GNAS	2.14
105	Spondylometaphyseal dysplasia, pagnamenta type	Enrichment	PRKG2	2.14
106	Parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development	Enrichment	PTPA	2.14
107	Pituitary adenoma 3, multiple types	Enrichment	GNAS	2.14
108	Developmental and epileptic encephalopathy 91	Enrichment	PPP3CA	2.14
109	Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development	Enrichment	PPP3CA	2.14
110	Houge-janssens syndrome 4	Enrichment	PPP2R5C	2.14
111	Pyruvate dehydrogenase phosphatase deficiency	Enrichment	PDP1	2.14
112	Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities	Enrichment	GNAI1	2.14
113	Developmental and epileptic encephalopathy 17	Enrichment	GNAO1	2.14
114	Houge-janssens syndrome 2	Enrichment	PPP2R1A	2.14
115	Disorders of gnas inactivation	Enrichment	GNAS	2.14
116	Okur-chung neurodevelopmental syndrome	Enrichment	CSNK2A1	2.14
117	Jansen-de vries syndrome	Enrichment	PPM1D	2.14
118	Craniodigital syndrome and intellectual disability syndrome	Enrichment	CSNK2B	2.14
119	Rare disease with autism	Enrichment	SHANK2	2.14
120	Monostotic fibrous dysplasia	Enrichment	GNAS	2.14
121	Gnao1-related disorder	Enrichment	GNAO1	2.14
122	Ppp2r1a-related neurodevelopmental disorder	Enrichment	PPP2R1A	2.14
123	Mazabraud syndrome	Enrichment	GNAS	2.14
124	Malignant astrocytoma	Enrichment	PTPN11	2.14
125	Patent foramen ovale	Enrichment	FLNA, PTPN11	2.13
126	Cerebral palsy	Enrichment	TUBA1A, TUBB4A	2.08
127	Adrenocortical carcinoma	Enrichment	PRKAR1A	2.05
128	Prune belly syndrome	Enrichment	FLNA	1.98
129	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	Enrichment	TUBB1	1.98
130	Larsen syndrome	Enrichment	FLNB	1.98
131	Arterial tortuosity syndrome	Enrichment	FLNA	1.98
132	Periventricular nodular heterotopia 1	Enrichment	FLNA	1.98
133	Spondylocarpotarsal synostosis syndrome	Enrichment	FLNB	1.98
134	Leukodystrophy, hypomyelinating, 6	Enrichment	TUBB4A	1.98
135	Congenital short bowel syndrome	Enrichment	FLNA	1.98
136	Oocyte/zygote/embryo maturation arrest 2	Enrichment	TUBB8	1.98
137	Cortical dysplasia, complex, with other brain malformations 5	Enrichment	TUBB2A	1.98
138	Microvillus inclusion disease	Enrichment	MYO5B	1.98
139	Frontometaphyseal dysplasia	Enrichment	FLNA	1.98
140	Microcephaly	Enrichment	GNAO1, PTPN11, STXBP1, TUBB4A	1.92
141	Bronchiectasis with or without elevated sweat chloride 1	Enrichment	CFTR	1.88
142	Vas deferens, congenital bilateral aplasia of	Enrichment	CFTR	1.88
143	Developmental and epileptic encephalopathy 4	Enrichment	STXBP1	1.85
144	Pseudohypoparathyroidism, type ia	Enrichment	GNAS	1.84
145	Pituitary adenoma 4, acth-secreting	Enrichment	GNAI2	1.84
146	Pseudopseudohypoparathyroidism	Enrichment	GNAS	1.84
147	Houge-janssens syndrome 1	Enrichment	PPP2R5D	1.84
148	Werner syndrome	Enrichment	PTPN11	1.84
149	Poirier-bienvenu neurodevelopmental syndrome	Enrichment	CSNK2B	1.84
150	Acromesomelic dysplasia 4	Enrichment	PRKG2	1.84
151	Pseudohypoparathyroidism	Enrichment	GNAS	1.84
152	Hypopituitarism	Enrichment	GNAI2	1.84
153	Houge-janssens syndrome 3	Enrichment	PPP2CA	1.84
154	Acth-independent macronodular adrenal hyperplasia	Enrichment	GNAS	1.84
155	Spastic ataxia	Enrichment	STXBP1, TUBB3	1.82
156	Strabismus	Enrichment	PTPN11, STXBP1	1.79
157	Female infertility due to oocyte meiotic arrest	Enrichment	TUBB8	1.76
158	Acute promyelocytic leukemia	Enrichment	PRKAR1A	1.72
159	Hereditary chronic pancreatitis	Enrichment	CFTR	1.69
160	Cholestasis, progressive familial intrahepatic, 1	Enrichment	MYO5B	1.68
161	Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1	Enrichment	TUBB2B	1.68
162	Early myoclonic encephalopathy	Enrichment	TUBA1A	1.68
163	Mccune-albright syndrome	Enrichment	GNAS	1.67
164	Prognathism, mandibular	Enrichment	CSNK2B	1.67
165	Cushing syndrome due to bilateral macronodular adrenocortical disease	Enrichment	GNAS	1.67
166	Tricuspid valve insufficiency	Enrichment	PTPN11	1.67
167	Lynch syndrome	Enrichment	CFTR	1.66
168	Pancreatitis, hereditary	Enrichment	CFTR	1.61
169	Autism	Enrichment	STX1A, STXBP1	1.57
170	Developmental and epileptic encephalopathy	Enrichment	GNAO1, STXBP1	1.56
171	Fanconi anemia, complementation group c	Enrichment	FLNA	1.55
172	Cryptorchidism	Enrichment	TUBA1A	1.55
173	Pseudohypoparathyroidism, type ib	Enrichment	GNAS	1.54
174	Auriculocondylar syndrome 1	Enrichment	GNAI3	1.54
175	Pregnancy loss, recurrent 3	Enrichment	ANXA5	1.54
176	Achromatopsia 4	Enrichment	GNAI3	1.54
177	Enophthalmos	Enrichment	CSNK2B	1.54
178	Syndactyly	Enrichment	CSNK2B	1.54
179	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	Enrichment	PTPN11	1.54
180	Noonan syndrome with multiple lentigines	Enrichment	PTPN11	1.54
181	2p21 microdeletion syndrome	Enrichment	PPM1B	1.54
182	Cryptorchidism, unilateral or bilateral	Enrichment	TUBA1A	1.50
183	Inflammatory bowel disease 1	Enrichment	MYO5B	1.50
184	Nephrolithiasis	Enrichment	NHERF1	1.46
185	Lymphoma	Enrichment	PTPN11	1.45
186	Congenital nervous system abnormality	Enrichment	GNAO1, TUBA1A, TUBB4A	1.38
187	Nervous system disease	Enrichment	GNAO1, TUBA1A, TUBB4A	1.38
188	Congenital hypothyroidism	Enrichment	TUBB1	1.38
189	Thrombocytopenia	Enrichment	PTPN11, TUBB1	1.33
190	Periventricular nodular heterotopia	Enrichment	FLNA	1.31
191	Male infertility	Enrichment	CFTR	1.31
192	Noonan syndrome 3	Enrichment	PTPN11	1.31
193	Brachydactyly	Enrichment	GNAS	1.31
194	Body mass index quantitative trait locus 11	Enrichment	ADCY3, GNAS	1.30
195	Corpus callosum, agenesis of	Enrichment	TUBA1A	1.29
196	Isolated corpus callosum agenesis	Enrichment	TUBA1A	1.29
197	Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome	Enrichment	TUBA1A	1.29
198	Hydrocephalus, congenital, 1	Enrichment	TUBB	1.26
199	Spastic paraplegia 4, autosomal dominant	Enrichment	GNAS	1.25
200	Choreatic disease	Enrichment	GNAO1	1.25
201	Cleft palate, isolated	Enrichment	FLNA	1.23
202	Dandy-walker syndrome	Enrichment	TUBA1A	1.23
203	Complex neurodevelopmental disorder	Enrichment	CSNK2A1, PPP2CA, SHANK2	1.22
204	Male infertility with azoospermia or oligozoospermia due to single gene mutation	Enrichment	CFTR, PTPN11	1.21
205	Primary hyperaldosteronism	Enrichment	GNAS	1.20
206	Williams-beuren syndrome	Enrichment	STX1A	1.16
207	Pectus excavatum	Enrichment	PTPN11	1.12
208	Movement disease	Enrichment	GNAO1	1.12
209	Specific learning disability	Enrichment	PTPN11	1.12
210	Epicanthus	Enrichment	PTPN11	1.08
211	Juvenile myelomonocytic leukemia	Enrichment	PTPN11	1.08
212	Congenital long qt syndrome	Enrichment	PTPN11	1.08
213	Auditory neuropathy	Enrichment	TUBB4A	1.05
214	Rare genetic intellectual disability	Enrichment	GNAO1	0.99
215	Noonan syndrome and noonan-related syndrome	Enrichment	PTPN11	0.99
216	Primary ciliary dyskinesia	Enrichment	PRKAR1B	0.97
217	Connective tissue disease	Enrichment	FLNB	0.97
218	Early infantile developmental and epileptic encephalopathy	Enrichment	GNAO1	0.91
219	Fetal akinesia deformation sequence 1	Enrichment	TUBA1A	0.91
220	Rare autosomal recessive non-syndromic sensorineural deafness type dfnb	Enrichment	ADCY1	0.91
221	Optic atrophy plus syndrome	Enrichment	TUBB6	0.84
222	Familial thoracic aortic aneurysm and aortic dissection	Enrichment	FLNA	0.84
223	Noonan syndrome 1	Enrichment	PTPN11	0.81
224	Scoliosis	Enrichment	PTPN11	0.80
225	Developmental and epileptic encephalopathy 1	Enrichment	GNAO1	0.78
226	Hydrops fetalis, nonimmune	Enrichment	PTPN11	0.76
227	Rasopathy	Enrichment	PTPN11	0.76
228	Inherited cancer-predisposing syndrome	Enrichment	PRKAR1A	0.75
229	Autosomal recessive non-syndromic intellectual disability	Enrichment	EZR	0.73
230	Long qt syndrome 1	Enrichment	PTPN11	0.71
231	Non-immune hydrops fetalis	Enrichment	PTPN11	0.70
232	Lung cancer	Enrichment	PPP2R1B	0.68
233	Hypertrophic cardiomyopathy	Enrichment	PTPN11	0.57
234	Hereditary breast carcinoma	Enrichment	PPM1D	0.56
235	Leber plus disease	Enrichment	TUBB4B	0.54
236	Undetermined early-onset epileptic encephalopathy	Enrichment	PPP3CA	0.48
237	Breast cancer	Enrichment	PPM1D	0.38
238	Ovarian cancer	Enrichment	PPM1D	0.28

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

Regulation of CFTR activity (norm and CF)

Pathway Network for Regulation of CFTR activity (norm and CF)

Pathway network for the Regulation of CFTR activity (norm and CF) SuperPath

Member Pathways for Regulation of CFTR activity (norm and CF)

Pathways in the Regulation of CFTR activity (norm and CF) SuperPath

Gene overlap in member pathways for Regulation of CFTR activity (norm and CF) SuperPath

Associated Genes for Regulation of CFTR activity (norm and CF)

Associated Disorders for Regulation of CFTR activity (norm and CF)

Disorders associated with Regulation of CFTR activity (norm and CF) SuperPath

STRING Interaction Network for Regulation of CFTR activity (norm and CF)

Sources for Regulation of CFTR activity (norm and CF)