wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF)

Pathway network for the wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF) SuperPath

Sources:

GeneGo (Thomson Reuters)
Reactome

Pathways in the wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF) SuperPath

#	Name	Source	Genes
1	wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF)	GeneGo (Thomson Reuters)	AP2A1 AP2A2 AP2B1 AP2M1 AP2S1 ARCN1 CFTR CHMP4B CLTA CLTB CLTC COMMD1 COPA COPB1 COPB2 COPE COPG1 COPG2 COPZ1 COPZ2 DAB2 EZR FLNA FLNB GOPC HGS MYO5B NHERF1 NHERF2 PRKACA PRKACB PRKACG PRKAR1A PRKAR1B PRKAR2A PRKAR2B PRKCE RAB11A RAB27A RAB4A RAB4B RAB5A RAB7A RAB9A RHOQ SAR1A SAR1B SEC13 SEC23A SEC23B SEC24A SEC24B SEC24C SEC24D SEC31A SEC31B SNAP23 SNAP25 STAM2 STX12 STX1A STX6 STX8 TSG101 UBA52 UBB UBC VAMP2 VAMP8 VPS25 VTI1B (see all 71) (see less)
2	Transport Clathrin-coated vesicle cycle	GeneGo (Thomson Reuters)	ACTA1 ACTA2 ACTB ACTC1 ACTG1 ACTG2 AP1B1 AP1G1 AP1G2 AP1M1 AP1M2 AP1S1 AP1S2 AP1S3 AP2A1 AP2A2 AP2B1 AP2M1 AP2S1 ARCN1 ARF1 BET1L BIN1 CLTA CLTB CLTC COPA COPB1 COPB2 COPE COPG1 COPG2 COPZ1 COPZ2 DAB2 DNM2 EEA1 EPN1 EPS15 GCC2 GDI1 GDI2 GOSR1 HIP1 HIP1R MYO1B MYO1C MYO1D MYO1E MYO1F MYO1G MYO1H MYO5B MYO6 NSF OPTN PICALM PIK3C3 PIK3R4 PIKFYVE PLEKHA8 PLIN3 PREB RAB11A RAB11FIP1 RAB11FIP2 RAB11FIP5 RAB4A RAB4B RAB5A RAB7A RAB8A RAB9A RABEP1 RABEPK RABGEF1 RBSN RILP SAR1A SAR1B SEC13 SEC23A SEC23B SEC24A SEC24B SEC24C SEC24D SEC31A SEC31B SH3GLB1 SNAP25 SNAP91 SNX9 STX12 STX16 STX5 STX6 STX7 STX8 VAMP2 VAMP4 VAMP7 VAMP8 VPS45 VTI1A VTI1B YKT6 (see all 107) (see less)
3	wtCFTR and delta508 traffic / Clathrin coated vesicles formation (norm and CF)	GeneGo (Thomson Reuters)	ACTA1 ACTA2 ACTB ACTC1 ACTG1 ACTG2 AP2A1 AP2A2 AP2B1 AP2M1 AP2S1 BIN1 CFTR CLTA CLTB CLTC DAB2 DNM2 EPN1 EPS15 HIP1 HIP1R MYO1B MYO1C MYO1D MYO1E MYO1F MYO1G MYO1H MYO6 PICALM SH3GLB1 SNAP91 SNX9 (see all 34) (see less)
4	Normal wtCFTR traffic / ER-to-Golgi	GeneGo (Thomson Reuters)	ARCN1 CFTR COPA COPB1 COPB2 COPE COPG1 COPG2 COPZ1 COPZ2 GOPC PREB RHOQ SAR1A SAR1B SEC13 SEC23A SEC23B SEC24A SEC24B SEC24C SEC24D SEC31A SEC31B STX6 (see all 25) (see less)
5	Delta508-CFTR traffic / ER-to-Golgi in CF	GeneGo (Thomson Reuters)	ARCN1 CFTR COPA COPB1 COPB2 COPE COPG1 COPG2 COPZ1 COPZ2 GOPC PREB RHOQ SAR1A SAR1B SEC13 SEC23A SEC23B SEC24A SEC24B SEC24C SEC24D SEC31A SEC31B STX6 (see all 25) (see less)
6	RHO GTPases regulate CFTR trafficking	Reactome	CFTR GOPC RHOQ

Gene overlap in member pathways for wtCFTR and delta508-CFTR traffic / Generic schema (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	5
2	ARCN1	Archain 1 Coat Protein Complex I Subunit Delta	Protein Coding	4
3	COPA	Coat Protein Complex I Subunit Alpha	Protein Coding	4
4	COPB1	Coat Protein Complex I Subunit Beta 1	Protein Coding	4
5	SEC13	SEC13 Homolog, Nuclear Pore And COPII Component	Protein Coding	4
6	COPB2	Coat Protein Complex I Subunit Beta 2	Protein Coding	4
7	SEC24C	SEC24 Homolog C, COPII Component	Protein Coding	4
8	SEC24D	SEC24 Homolog D, COPII Component	Protein Coding	4
9	STX6	Syntaxin 6	Protein Coding	4
10	SEC24B	SEC24 Homolog B, COPII Component	Protein Coding	4
11	SEC23B	SEC23 Homolog B, COPII Component	Protein Coding	4
12	SEC23A	SEC23 Homolog A, COPII Component	Protein Coding	4
13	SEC24A	SEC24 Homolog A, COPII Component	Protein Coding	4
14	COPE	Coat Protein Complex I Subunit Epsilon	Protein Coding	4
15	COPZ1	Coat Protein Complex I Subunit Zeta 1	Protein Coding	4
16	COPG1	Coat Protein Complex I Subunit Gamma 1	Protein Coding	4
17	SEC31A	SEC31 Homolog A, COPII Component	Protein Coding	4
18	RHOQ	Ras Homolog Family Member Q	Protein Coding	4
19	SEC31B	SEC31 Homolog B, COPII Component	Protein Coding	4
20	COPG2	Coat Protein Complex I Subunit Gamma 2	Protein Coding	4
21	SAR1B	Secretion Associated Ras Related GTPase 1B	Protein Coding	4
22	COPZ2	Coat Protein Complex I Subunit Zeta 2	Protein Coding	4
23	SAR1A	Secretion Associated Ras Related GTPase 1A	Protein Coding	4
24	GOPC	Golgi Associated PDZ And Coiled-Coil Motif Containing	Protein Coding	4
25	AP2A1	Adaptor Related Protein Complex 2 Subunit Alpha 1	Protein Coding	3
26	AP2A2	Adaptor Related Protein Complex 2 Subunit Alpha 2	Protein Coding	3
27	AP2B1	Adaptor Related Protein Complex 2 Subunit Beta 1	Protein Coding	3
28	AP2M1	Adaptor Related Protein Complex 2 Subunit Mu 1	Protein Coding	3
29	AP2S1	Adaptor Related Protein Complex 2 Subunit Sigma 1	Protein Coding	3
30	CLTA	Clathrin Light Chain A	Protein Coding	3
31	CLTB	Clathrin Light Chain B	Protein Coding	3
32	CLTC	Clathrin Heavy Chain	Protein Coding	3
33	DAB2	DAB Adaptor Protein 2	Protein Coding	3
34	PREB	Prolactin Regulatory Element Binding	Protein Coding	3
35	MYO5B	Myosin VB	Protein Coding	2
36	RAB4A	RAB4A, Member RAS Oncogene Family	Protein Coding	2
37	RAB5A	RAB5A, Member RAS Oncogene Family	Protein Coding	2
38	SNAP25	Synaptosome Associated Protein 25	Protein Coding	2
39	VAMP2	Vesicle Associated Membrane Protein 2	Protein Coding	2
40	RAB7A	RAB7A, Member RAS Oncogene Family	Protein Coding	2
41	VAMP8	Vesicle Associated Membrane Protein 8	Protein Coding	2
42	RAB11A	RAB11A, Member RAS Oncogene Family	Protein Coding	2
43	RAB9A	RAB9A, Member RAS Oncogene Family	Protein Coding	2
44	STX8	Syntaxin 8	Protein Coding	2
45	VTI1B	Vesicle Transport Through Interaction With T-SNAREs 1B	Protein Coding	2
46	STX12	Syntaxin 12	Protein Coding	2
47	RAB4B	RAB4B, Member RAS Oncogene Family	Protein Coding	2
48	ACTA1	Actin Alpha 1, Skeletal Muscle	Protein Coding	2
49	ACTA2	Actin Alpha 2, Smooth Muscle	Protein Coding	2
50	ACTB	Actin Beta	Protein Coding	2
51	ACTC1	Actin Alpha Cardiac Muscle 1	Protein Coding	2
52	ACTG1	Actin Gamma 1	Protein Coding	2
53	ACTG2	Actin Gamma 2, Smooth Muscle	Protein Coding	2
54	BIN1	Bridging Integrator 1	Protein Coding	2
55	DNM2	Dynamin 2	Protein Coding	2
56	EPS15	Epidermal Growth Factor Receptor Pathway Substrate 15	Protein Coding	2
57	HIP1	Huntingtin Interacting Protein 1	Protein Coding	2
58	MYO1B	Myosin IB	Protein Coding	2
59	MYO1F	Myosin IF	Protein Coding	2
60	MYO1C	Myosin IC	Protein Coding	2
61	MYO1D	Myosin ID	Protein Coding	2
62	MYO1E	Myosin IE	Protein Coding	2
63	MYO6	Myosin VI	Protein Coding	2
64	PICALM	Phosphatidylinositol Binding Clathrin Assembly Protein	Protein Coding	2
65	HIP1R	Huntingtin Interacting Protein 1 Related	Protein Coding	2
66	SNAP91	Synaptosome Associated Protein 91	Protein Coding	2
67	EPN1	Epsin 1	Protein Coding	2
68	SH3GLB1	SH3 Domain Containing GRB2 Like, Endophilin B1	Protein Coding	2
69	SNX9	Sorting Nexin 9	Protein Coding	2
70	MYO1G	Myosin IG	Protein Coding	2
71	MYO1H	Myosin IH	Protein Coding	2
72	FLNA	Filamin A	Protein Coding	1
73	FLNB	Filamin B	Protein Coding	1
74	PRKACA	Protein Kinase CAMP-Activated Catalytic Subunit Alpha	Protein Coding	1
75	PRKACB	Protein Kinase CAMP-Activated Catalytic Subunit Beta	Protein Coding	1
76	PRKACG	Protein Kinase CAMP-Activated Catalytic Subunit Gamma	Protein Coding	1
77	PRKAR1A	Protein Kinase CAMP-Dependent Type I Regulatory Subunit Alpha	Protein Coding	1
78	PRKAR1B	Protein Kinase CAMP-Dependent Type I Regulatory Subunit Beta	Protein Coding	1
79	PRKAR2A	Protein Kinase CAMP-Dependent Type II Regulatory Subunit Alpha	Protein Coding	1
80	PRKAR2B	Protein Kinase CAMP-Dependent Type II Regulatory Subunit Beta	Protein Coding	1
81	PRKCE	Protein Kinase C Epsilon	Protein Coding	1
82	RAB27A	RAB27A, Member RAS Oncogene Family	Protein Coding	1
83	STX1A	Syntaxin 1A	Protein Coding	1
84	TSG101	Tumor Susceptibility 101	Protein Coding	1
85	UBA52	Ubiquitin A-52 Residue Ribosomal Protein Fusion Product 1	Protein Coding	1
86	UBB	Ubiquitin B	Protein Coding	1
87	UBC	Ubiquitin C	Protein Coding	1
88	EZR	Ezrin	Protein Coding	1
89	SNAP23	Synaptosome Associated Protein 23	Protein Coding	1
90	HGS	Hepatocyte Growth Factor-Regulated Tyrosine Kinase Substrate	Protein Coding	1
91	NHERF2	NHERF Family PDZ Scaffold Protein 2	Protein Coding	1
92	NHERF1	NHERF Family PDZ Scaffold Protein 1	Protein Coding	1
93	STAM2	Signal Transducing Adaptor Molecule 2	Protein Coding	1
94	VPS25	Vacuolar Protein Sorting 25 Homolog	Protein Coding	1
95	CHMP4B	Charged Multivesicular Body Protein 4B	Protein Coding	1
96	COMMD1	Copper Metabolism Domain Containing 1	Protein Coding	1
97	AP1B1	Adaptor Related Protein Complex 1 Subunit Beta 1	Protein Coding	1
98	AP1G1	Adaptor Related Protein Complex 1 Subunit Gamma 1	Protein Coding	1
99	ARF1	ARF GTPase 1	Protein Coding	1
100	AP1S1	Adaptor Related Protein Complex 1 Subunit Sigma 1	Protein Coding	1
101	GDI1	GDP Dissociation Inhibitor 1	Protein Coding	1
102	GDI2	GDP Dissociation Inhibitor 2	Protein Coding	1
103	RAB8A	RAB8A, Member RAS Oncogene Family	Protein Coding	1
104	NSF	N-Ethylmaleimide Sensitive Factor, Vesicle Fusing ATPase	Protein Coding	1
105	PIK3C3	Phosphatidylinositol 3-Kinase Catalytic Subunit Type 3	Protein Coding	1
106	STX5	Syntaxin 5	Protein Coding	1
107	VAMP7	Vesicle Associated Membrane Protein 7	Protein Coding	1
108	EEA1	Early Endosome Antigen 1	Protein Coding	1
109	STX7	Syntaxin 7	Protein Coding	1
110	VAMP4	Vesicle Associated Membrane Protein 4	Protein Coding	1
111	STX16	Syntaxin 16	Protein Coding	1
112	AP1S2	Adaptor Related Protein Complex 1 Subunit Sigma 2	Protein Coding	1
113	AP1G2	Adaptor Related Protein Complex 1 Subunit Gamma 2	Protein Coding	1
114	AP1M1	Adaptor Related Protein Complex 1 Subunit Mu 1	Protein Coding	1
115	RABEP1	Rabaptin, RAB GTPase Binding Effector Protein 1	Protein Coding	1
116	GOSR1	Golgi SNAP Receptor Complex Member 1	Protein Coding	1
117	GCC2	GRIP And Coiled-Coil Domain Containing 2	Protein Coding	1
118	AP1M2	Adaptor Related Protein Complex 1 Subunit Mu 2	Protein Coding	1
119	OPTN	Optineurin	Protein Coding	1
120	PLIN3	Perilipin 3	Protein Coding	1
121	RABEPK	Rab9 Effector Protein With Kelch Motifs	Protein Coding	1
122	YKT6	YKT6 Vesicular SNARE Protein	Protein Coding	1
123	VPS45	Vacuolar Protein Sorting 45 Homolog	Protein Coding	1
124	RAB11FIP2	RAB11 Family Interacting Protein 2	Protein Coding	1
125	RAB11FIP5	RAB11 Family Interacting Protein 5	Protein Coding	1
126	RABGEF1	RAB Guanine Nucleotide Exchange Factor 1	Protein Coding	1
127	PIK3R4	Phosphoinositide-3-Kinase Regulatory Subunit 4	Protein Coding	1
128	BET1L	Bet1 Golgi Vesicular Membrane Trafficking Protein Like	Protein Coding	1
129	RBSN	Rabenosyn, RAB Effector	Protein Coding	1
130	RAB11FIP1	RAB11 Family Interacting Protein 1	Protein Coding	1
131	RILP	Rab Interacting Lysosomal Protein	Protein Coding	1
132	PLEKHA8	Pleckstrin Homology Domain Containing A8	Protein Coding	1
133	AP1S3	Adaptor Related Protein Complex 1 Subunit Sigma 3	Protein Coding	1
134	VTI1A	Vesicle Transport Through Interaction With T-SNAREs 1A	Protein Coding	1
135	PIKFYVE	Phosphoinositide Kinase, FYVE-Type Zinc Finger Containing	Protein Coding	1

Disorders associated with wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF) SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Baraitser-winter cerebrofrontofacial syndrome	Enrichment	ACTB, ACTG1	5.21
2	Myopathy, centronuclear, 1	Enrichment	BIN1, DNM2	4.04
3	Mednik syndrome	Enrichment	AP1B1, AP1S1	3.74
4	Aquagenic palmoplantar keratoderma	Enrichment	CFTR	3.66
5	Rare autosomal dominant non-syndromic sensorineural deafness type dfna	Enrichment	ACTG1, MYO1C, MYO6	3.53
6	Spermatogenic failure, y-linked, 2	Enrichment	CFTR	3.35
7	Nuchal bleb, familial	Enrichment	CFTR	3.18
8	Idiopathic bronchiectasis	Enrichment	CFTR	3.05
9	Ellis-van creveld syndrome	Enrichment	PRKACA, PRKACB	3.02
10	Centronuclear myopathy	Enrichment	ACTA1, DNM2	2.91
11	Male infertility due to globozoospermia	Enrichment	GOPC	2.75
12	Craniolenticulosutural dysplasia	Enrichment	SEC23A	2.73
13	Cole-carpenter syndrome 2	Enrichment	SEC24D	2.73
14	Halperin-birk syndrome	Enrichment	SEC31A	2.73
15	Osteoporosis, childhood- or juvenile-onset, with developmental delay	Enrichment	COPB2	2.73
16	Microcephaly 19, primary, autosomal recessive	Enrichment	COPB2	2.73
17	Short stature-micrognathia syndrome	Enrichment	ARCN1	2.73
18	Autoinflammation and autoimmunity, systemic, with immune dysregulation	Enrichment	COPA	2.73
19	Baralle-macken syndrome	Enrichment	COPB1	2.73
20	Immunodeficiency 128	Enrichment	COPG1	2.73
21	Bronchiectasis with or without elevated sweat chloride 1	Enrichment	CFTR	2.70
22	Vas deferens, congenital bilateral aplasia of	Enrichment	CFTR	2.70
23	Baraitser-winter syndrome 1	Enrichment	ACTB	2.60
24	Hypocalciuric hypercalcemia, familial, type iii	Enrichment	AP2S1	2.60
25	Congenital myopathy 2a, typical, autosomal dominant	Enrichment	ACTA1	2.60
26	Deafness, autosomal dominant 22	Enrichment	MYO6	2.60
27	Charcot-marie-tooth disease, dominant intermediate b	Enrichment	DNM2	2.60
28	Myopathy, scapulohumeroperoneal	Enrichment	ACTA1	2.60
29	Megacystis-microcolon-intestinal hypoperistalsis syndrome 5	Enrichment	ACTG2	2.60
30	Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction	Enrichment	MYO1H	2.60
31	Congenital smooth muscle hamartoma, with or without hemihypertrophy	Enrichment	ACTB	2.60
32	Deafness, autosomal recessive 37	Enrichment	MYO6	2.60
33	Becker nevus syndrome	Enrichment	ACTB	2.60
34	Dystonia-deafness syndrome 1	Enrichment	ACTB	2.60
35	Visceral neuropathy, familial, 3, autosomal dominant	Enrichment	ACTG2	2.60
36	Lethal congenital contracture syndrome 5	Enrichment	DNM2	2.60
37	Congenital myopathy 2b, severe infantile, autosomal recessive	Enrichment	ACTA1	2.60
38	Autosomal dominant familial visceral neuropathy	Enrichment	ACTG2	2.60
39	Focal segmental glomerulosclerosis 6	Enrichment	MYO1E	2.60
40	Congenital myopathy 2c, severe infantile, autosomal dominant	Enrichment	ACTA1	2.60
41	Thrombocytopenia 8, with dysmorphic features and developmental delay	Enrichment	ACTB	2.60
42	Baraitser-winter syndrome	Enrichment	ACTB	2.60
43	Autosomal dominant charcot-marie-tooth disease type 2m	Enrichment	DNM2	2.60
44	Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome	Enrichment	MYO6	2.60
45	Zebra body myopathy	Enrichment	ACTA1	2.60
46	Congenital smooth muscle hamartoma	Enrichment	ACTB	2.60
47	Developmental malformations-deafness-dystonia syndrome	Enrichment	ACTB	2.60
48	Autosomal dominant nonsyndromic hearing loss 22	Enrichment	MYO6	2.60
49	Actin-accumulation myopathy	Enrichment	ACTA1	2.60
50	Myopathic intestinal pseudoobstruction	Enrichment	ACTG2	2.60
51	Actg2 visceral myopathy	Enrichment	ACTG2	2.60
52	Hereditary chronic pancreatitis	Enrichment	CFTR	2.51
53	Lynch syndrome	Enrichment	CFTR	2.48
54	Non-syndromic genetic deafness	Enrichment	ACTG1, MYO6	2.44
55	Anemia, congenital dyserythropoietic, type ii	Enrichment	SEC23B	2.43
56	Chylomicron retention disease	Enrichment	SAR1B	2.43
57	Cowden syndrome 7	Enrichment	SEC23B	2.43
58	Congenital dyserythropoietic anemia	Enrichment	SEC23B	2.43
59	Pancreatitis, hereditary	Enrichment	CFTR	2.43
60	Myopathy	Enrichment	ACTA1, DNM2	2.35
61	Distal arthrogryposis	Enrichment	ACTA1, ACTC1	2.31
62	Nonsyndromic hearing loss	Enrichment	ACTG1, MYO6	2.31
63	Aortic aneurysm, familial thoracic 2	Enrichment	ACTA2	2.30
64	Cardiomyopathy, dilated, 1r	Enrichment	ACTC1	2.30
65	Deafness, autosomal dominant 20	Enrichment	ACTG1	2.30
66	Cardiomyopathy, familial hypertrophic, 11	Enrichment	ACTC1	2.30
67	Smooth muscle dysfunction syndrome	Enrichment	ACTA2	2.30
68	Aortic aneurysm, familial thoracic 6	Enrichment	ACTA2	2.30
69	Baraitser-winter syndrome 2	Enrichment	ACTG1	2.30
70	Moyamoya disease 5	Enrichment	ACTA2	2.30
71	Atrial septal defect 5	Enrichment	ACTC1	2.30
72	Intellectual developmental disorder, autosomal dominant 60, with seizures	Enrichment	AP2M1	2.30
73	Intestinal obstruction	Enrichment	ACTG2	2.30
74	Boomerang dysplasia	Enrichment	FLNB	2.28
75	Acrodysostosis 1 with or without hormone resistance	Enrichment	PRKAR1A	2.28
76	Griscelli syndrome, type 2	Enrichment	RAB27A	2.28
77	Otopalatodigital syndrome, type i	Enrichment	FLNA	2.28
78	Intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linked	Enrichment	FLNA	2.28
79	Nephrolithiasis/osteoporosis, hypophosphatemic, 2	Enrichment	NHERF1	2.28
80	Carney complex, type 1	Enrichment	PRKAR1A	2.28
81	Cataract 31, multiple types	Enrichment	CHMP4B	2.28
82	Atelosteogenesis, type iii	Enrichment	FLNB	2.28
83	Atelosteogenesis, type i	Enrichment	FLNB	2.28
84	Developmental and epileptic encephalopathy 117	Enrichment	SNAP25	2.28
85	Terminal osseous dysplasia	Enrichment	FLNA	2.28
86	Charcot-marie-tooth disease, axonal, type 2b	Enrichment	RAB7A	2.28
87	Fg syndrome 2	Enrichment	FLNA	2.28
88	Charcot-marie-tooth disease type 2b	Enrichment	RAB7A	2.28
89	Cardioacrofacial dysplasia 2	Enrichment	PRKACB	2.28
90	Myxoma, intracardiac	Enrichment	PRKAR1A	2.28
91	Otopalatodigital syndrome spectrum disorder	Enrichment	FLNA	2.28
92	Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements	Enrichment	VAMP2	2.28
93	Pigmented nodular adrenocortical disease, primary, 4	Enrichment	PRKACA	2.28
94	Epilepsy with generalized tonic-clonic seizures	Enrichment	SNAP25	2.28
95	Cardioacrofacial dysplasia 1	Enrichment	PRKACA	2.28
96	X-linked ehlers-danlos syndrome	Enrichment	FLNA	2.28
97	Griscelli syndrome	Enrichment	RAB27A	2.28
98	Flnb-related disorders	Enrichment	FLNB	2.28
99	Prkar1b-related neurodegenerative dementia with intermediate filaments	Enrichment	PRKAR1B	2.28
100	X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome	Enrichment	FLNA	2.28
101	Cole-carpenter syndrome	Enrichment	SEC24D	2.26
102	Cystic fibrosis	Enrichment	CFTR	2.15
103	Myopathy, centronuclear, x-linked	Enrichment	DNM2	2.12
104	Intellectual developmental disorder, autosomal dominant 56	Enrichment	CLTC	2.12
105	Male infertility	Enrichment	CFTR	2.12
106	Corneal dystrophy, fleck	Enrichment	PIKFYVE	2.10
107	Keratitis-ichthyosis-deafness syndrome, autosomal recessive	Enrichment	AP1B1	2.10
108	Intellectual developmental disorder, x-linked 41	Enrichment	GDI1	2.10
109	Myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities	Enrichment	RBSN	2.10
110	Usmani-riazuddin syndrome, autosomal recessive	Enrichment	AP1G1	2.10
111	Congenital disorder of glycosylation, type iiaa	Enrichment	STX5	2.10
112	Psoriasis 15, pustular	Enrichment	AP1S3	2.10
113	Neutropenia, severe congenital, 5, autosomal recessive	Enrichment	VPS45	2.10
114	Usmani-riazuddin syndrome, autosomal dominant	Enrichment	AP1G1	2.10
115	Kariminejad neurodevelopmental syndrome	Enrichment	RBSN	2.10
116	Severe congenital neutropenia 5	Enrichment	VPS45	2.10
117	Nemaline myopathy 2	Enrichment	ACTA1	2.00
118	Megacystis-microcolon-intestinal hypoperistalsis syndrome 1	Enrichment	ACTG2	2.00
119	Myopathy, centronuclear, 2	Enrichment	BIN1	2.00
120	Autoimmune lymphoproliferative syndrome	Enrichment	ACTA2	2.00
121	Aminoacylase 1 deficiency	Enrichment	ACTB	2.00
122	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1	Enrichment	CLTC	2.00
123	Intermediate nemaline myopathy	Enrichment	ACTA1	2.00
124	Pseudomyogenic hemangioendothelioma	Enrichment	ACTB	2.00
125	Amelogenesis imperfecta, type ig	Enrichment	PRKAR1A	1.98
126	Diarrhea 2, with microvillus atrophy, with or without cholestasis	Enrichment	MYO5B	1.98
127	Visceral neuropathy, familial, 1, autosomal recessive	Enrichment	FLNA	1.98
128	Otopalatodigital syndrome, type ii	Enrichment	FLNA	1.98
129	Melnick-needles syndrome	Enrichment	FLNA	1.98
130	Frontometaphyseal dysplasia 1	Enrichment	FLNA	1.98
131	Pigmented nodular adrenocortical disease, primary, 1	Enrichment	PRKAR1A	1.98
132	Bleeding disorder, platelet-type, 19	Enrichment	PRKACG	1.98
133	Marbach-schaaf neurodevelopmental syndrome	Enrichment	PRKAR1B	1.98
134	Cholestasis, progressive familial intrahepatic, 10	Enrichment	MYO5B	1.98
135	Cardiac valvular dysplasia, x-linked	Enrichment	FLNA	1.98
136	Hypophosphatemia	Enrichment	NHERF1	1.98
137	Usher syndrome, type iv	Enrichment	PRKAR1A	1.98
138	Acrodysostosis	Enrichment	PRKAR1A	1.98
139	Fibrolamellar carcinoma	Enrichment	PRKACA	1.98
140	Ciliary dyskinesia, primary, 18	Enrichment	PRKAR1B	1.98
141	Isolated primary pigmented nodular adrenocortical disease	Enrichment	PRKAR1A	1.98
142	Dominant hypophosphatemia with nephrolithiasis or osteoporosis	Enrichment	NHERF1	1.98
143	Submucosal cleft palate	Enrichment	UBB	1.98
144	Cleft hard palate	Enrichment	UBB	1.98
145	Osteogenesis imperfecta, type i	Enrichment	SEC24D	1.96
146	Male infertility with azoospermia or oligozoospermia due to single gene mutation	Enrichment	CFTR	1.91
147	Visceral myopathy 1	Enrichment	ACTG2	1.90
148	Congenital myopathy 3 with rigid spine	Enrichment	ACTA1	1.90
149	Coloboma of choroid and retina	Enrichment	ACTG1	1.90
150	Severe congenital nemaline myopathy	Enrichment	ACTA1	1.90
151	Moyamoya disease 1	Enrichment	ACTA2	1.83
152	Epidermolysis bullosa, junctional 5b, with pyloric atresia	Enrichment	MYO6	1.83
153	Inflammatory myofibroblastic tumor	Enrichment	CLTC	1.83
154	Intestinal pseudo-obstruction	Enrichment	ACTG2	1.83
155	Typical nemaline myopathy	Enrichment	ACTA1	1.83
156	Developmental and epileptic encephalopathy	Enrichment	SEC24C, SNAP25	1.82
157	Prune belly syndrome	Enrichment	FLNA	1.81
158	Larsen syndrome	Enrichment	FLNB	1.81
159	Arterial tortuosity syndrome	Enrichment	FLNA	1.81
160	Uvula, bifid	Enrichment	UBB	1.81
161	Periventricular nodular heterotopia 1	Enrichment	FLNA	1.81
162	Spondylocarpotarsal synostosis syndrome	Enrichment	FLNB	1.81
163	Cleft soft palate	Enrichment	UBB	1.81
164	Congenital short bowel syndrome	Enrichment	FLNA	1.81
165	Microvillus inclusion disease	Enrichment	MYO5B	1.81
166	Frontometaphyseal dysplasia	Enrichment	FLNA	1.81
167	Psoriasis 14, pustular	Enrichment	AP1S3	1.80
168	Periventricular nodular heterotopia 8	Enrichment	ARF1	1.80
169	Pettigrew syndrome	Enrichment	AP1S2	1.80
170	Developmental and epileptic encephalopathy 96	Enrichment	NSF	1.80
171	Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia	Enrichment	OPTN	1.80
172	Amyotrophic lateral sclerosis type 12	Enrichment	OPTN	1.80
173	Microcephaly	Enrichment	ACTB, ACTG1, COPB1, SNAP25	1.79
174	Cowden syndrome	Enrichment	SEC23B	1.78
175	Rare genetic deafness	Enrichment	ACTG1, MYO6	1.78
176	Dilated cardiomyopathy	Enrichment	ACTA1, ACTC1	1.77
177	Noonan syndrome 3	Enrichment	CLTC	1.76
178	Renal cell carcinoma with mit translocations	Enrichment	CLTC	1.76
179	Childhood-onset nemaline myopathy	Enrichment	ACTA1	1.76
180	Primary bone dysplasia	Enrichment	COPB1	1.74
181	Immune deficiency disease	Enrichment	COPB1	1.70
182	Osteochondrodysplasia	Enrichment	COPB1	1.70
183	Developmental and epileptic encephalopathy 2	Enrichment	SNAP25	1.68
184	Carney complex variant	Enrichment	PRKAR1A	1.68
185	Arrhythmogenic right ventricular dysplasia, familial, 10	Enrichment	PRKAR1A	1.68
186	Digeorge syndrome	Enrichment	SEC24C	1.66
187	Myoclonic-atonic epilepsy	Enrichment	AP2M1	1.65
188	Congenital central hypoventilation syndrome	Enrichment	MYO1H	1.65
189	Glaucoma, normal tension	Enrichment	OPTN	1.63
190	Cat eye syndrome	Enrichment	ACTG1	1.61
191	Nemaline myopathy	Enrichment	ACTA1	1.61
192	Cataract	Enrichment	COPB1	1.59
193	Cataract 6, multiple types	Enrichment	CHMP4B	1.59
194	Autosomal dominant non-syndromic intellectual disability	Enrichment	CLTC, RAB11A	1.55
195	Cholestasis, progressive familial intrahepatic, 1	Enrichment	MYO5B	1.51
196	Patent ductus arteriosus	Enrichment	FLNA	1.51
197	Adrenocortical carcinoma	Enrichment	PRKAR1A	1.51
198	Pseudohypoparathyroidism, type ib	Enrichment	STX16	1.51
199	Lung cancer susceptibility 3	Enrichment	ACTA2	1.46
200	Focal epilepsy	Enrichment	SNAP25	1.44
201	Congenital myopathy 4a, autosomal dominant	Enrichment	ACTA1	1.43
202	Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia	Enrichment	OPTN	1.41
203	Fanconi anemia, complementation group c	Enrichment	FLNA	1.39
204	Early-onset posterior polar cataract	Enrichment	CHMP4B	1.39
205	Neuromuscular disease	Enrichment	ACTA1	1.35
206	Patent foramen ovale	Enrichment	ACTC1	1.35
207	Inflammatory bowel disease 1	Enrichment	MYO5B	1.34
208	Glaucoma, primary open angle	Enrichment	OPTN	1.33
209	Congenital myopathy	Enrichment	ACTA1	1.33
210	Nephrolithiasis	Enrichment	NHERF1	1.29
211	Lissencephaly	Enrichment	ACTG1	1.29
212	Severe covid-19	Enrichment	SEC23B	1.28
213	Motor neuron disease	Enrichment	OPTN	1.27
214	Presynaptic congenital myasthenic syndromes	Enrichment	SNAP25	1.25
215	Precursor t-cell acute lymphoblastic leukemia	Enrichment	PICALM	1.25
216	Primary autosomal recessive microcephaly	Enrichment	COPB2	1.24
217	Ear malformation	Enrichment	MYO6	1.23
218	Severe congenital neutropenia	Enrichment	VPS45	1.21
219	Hydrops fetalis, nonimmune	Enrichment	ACTA1	1.20
220	Acute promyelocytic leukemia	Enrichment	PRKAR1A	1.18
221	Stereotypic movement disorder	Enrichment	SNAP25	1.18
222	Tracheoesophageal fistula with or without esophageal atresia	Enrichment	AP1G2	1.16
223	Periventricular nodular heterotopia	Enrichment	FLNA	1.15
224	Non-immune hydrops fetalis	Enrichment	ACTA1	1.13
225	Isolated tracheo-esophageal fistula	Enrichment	AP1G2	1.12
226	Lung cancer	Enrichment	ACTA2	1.11
227	Connective tissue disease	Enrichment	ACTA2	1.11
228	Familial hypertrophic cardiomyopathy	Enrichment	ACTC1	1.10
229	Isolated congenital microcephaly	Enrichment	RAB11A	1.09
230	Cakut	Enrichment	ACTG1	1.09
231	Genetic steroid-resistant nephrotic syndrome	Enrichment	MYO1E	1.09
232	Left ventricular noncompaction	Enrichment	ACTC1	1.07
233	Cleft palate, isolated	Enrichment	FLNA	1.07
234	Fetal akinesia deformation sequence 1	Enrichment	ACTA1	1.05
235	Leukemia, acute myeloid	Enrichment	PICALM	1.02
236	Charcot-marie-tooth disease	Enrichment	DNM2	1.01
237	Williams-beuren syndrome	Enrichment	STX1A	1.00
238	Nephrotic syndrome	Enrichment	MYO1E	0.99
239	Hypertrophic cardiomyopathy	Enrichment	ACTC1	0.99
240	Familial thoracic aortic aneurysm and aortic dissection	Enrichment	ACTA2	0.98
241	46,xy partial gonadal dysgenesis	Enrichment	VAMP7	0.98
242	Multisystem inflammatory syndrome in children	Enrichment	RAB27A	0.96
243	Autoinflammatory disease	Enrichment	RAB27A	0.93
244	Familial isolated dilated cardiomyopathy	Enrichment	ACTC1	0.90
245	Undetermined early-onset epileptic encephalopathy	Enrichment	CLTC	0.88
246	Esophageal atresia/tracheoesophageal fistula	Enrichment	AP1G2	0.85
247	Colorectal cancer	Enrichment	MYO1B	0.71
248	Rare autosomal recessive non-syndromic sensorineural deafness type dfnb	Enrichment	MYO6	0.70
249	Optic atrophy plus syndrome	Enrichment	SNAP25	0.69
250	Non-syndromic x-linked intellectual disability	Enrichment	GDI1	0.60
251	Autosomal recessive non-syndromic intellectual disability	Enrichment	EZR	0.58
252	Autism	Enrichment	STX1A	0.50
253	Primary ciliary dyskinesia	Enrichment	PRKAR1B	0.48
254	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	Enrichment	OPTN	0.43
255	Inherited cancer-predisposing syndrome	Enrichment	PRKAR1A	0.30
256	Complex neurodevelopmental disorder	Enrichment	AP1G1	0.20
257	Hereditary retinal dystrophy	Enrichment	RILP	0.04
258	Fundus dystrophy	Enrichment	RILP	0.04

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

wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF)

Pathway Network for wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF)

Pathway network for the wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF) SuperPath

Member Pathways for wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF)

Pathways in the wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF) SuperPath

Gene overlap in member pathways for wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF) SuperPath

Associated Genes for wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF)

Associated Disorders for wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF)

Disorders associated with wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF) SuperPath

STRING Interaction Network for wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF)

Sources for wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF)