Delta508-CFTR traffic / Sorting endosome formation in CF

No Pathway Network information available for Delta508-CFTR traffic / Sorting endosome formation in CF

Pathways in the Delta508-CFTR traffic / Sorting endosome formation in CF SuperPath

#	Name	Source	Genes
1	Delta508-CFTR traffic / Sorting endosome formation in CF	GeneGo (Thomson Reuters)	CFTR CHMP4B EEA1 HGS NSF PIK3C3 PIK3R4 RAB5A RAB7A RABEP1 RABGEF1 RBSN SNAP25 STAM2 STX12 TSG101 UBA52 UBB UBC VAMP2 VPS25 VPS45 (see all 22) (see less)
2	Normal wtCFTR traffic / Sorting endosome formation	GeneGo (Thomson Reuters)	CFTR EEA1 NSF PIK3C3 PIK3R4 RAB5A RAB7A RABEP1 RABGEF1 RBSN SNAP25 STX12 UBA52 UBB UBC VAMP2 VPS45 (see all 17) (see less)

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	2
2	NSF	N-Ethylmaleimide Sensitive Factor, Vesicle Fusing ATPase	Protein Coding	2
3	PIK3C3	Phosphatidylinositol 3-Kinase Catalytic Subunit Type 3	Protein Coding	2
4	RAB5A	RAB5A, Member RAS Oncogene Family	Protein Coding	2
5	SNAP25	Synaptosome Associated Protein 25	Protein Coding	2
6	VAMP2	Vesicle Associated Membrane Protein 2	Protein Coding	2
7	UBA52	Ubiquitin A-52 Residue Ribosomal Protein Fusion Product 1	Protein Coding	2
8	UBB	Ubiquitin B	Protein Coding	2
9	UBC	Ubiquitin C	Protein Coding	2
10	RAB7A	RAB7A, Member RAS Oncogene Family	Protein Coding	2
11	EEA1	Early Endosome Antigen 1	Protein Coding	2
12	RABEP1	Rabaptin, RAB GTPase Binding Effector Protein 1	Protein Coding	2
13	VPS45	Vacuolar Protein Sorting 45 Homolog	Protein Coding	2
14	STX12	Syntaxin 12	Protein Coding	2
15	RABGEF1	RAB Guanine Nucleotide Exchange Factor 1	Protein Coding	2
16	PIK3R4	Phosphoinositide-3-Kinase Regulatory Subunit 4	Protein Coding	2
17	RBSN	Rabenosyn, RAB Effector	Protein Coding	2
18	TSG101	Tumor Susceptibility 101	Protein Coding	1
19	HGS	Hepatocyte Growth Factor-Regulated Tyrosine Kinase Substrate	Protein Coding	1
20	STAM2	Signal Transducing Adaptor Molecule 2	Protein Coding	1
21	VPS25	Vacuolar Protein Sorting 25 Homolog	Protein Coding	1
22	CHMP4B	Charged Multivesicular Body Protein 4B	Protein Coding	1

Disorders associated with Delta508-CFTR traffic / Sorting endosome formation in CF SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Developmental and epileptic encephalopathy 117	Enrichment	SNAP25	2.90
2	Charcot-marie-tooth disease, axonal, type 2b	Enrichment	RAB7A	2.90
3	Charcot-marie-tooth disease type 2b	Enrichment	RAB7A	2.90
4	Myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities	Enrichment	RBSN	2.90
5	Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements	Enrichment	VAMP2	2.90
6	Epilepsy with generalized tonic-clonic seizures	Enrichment	SNAP25	2.90
7	Neutropenia, severe congenital, 5, autosomal recessive	Enrichment	VPS45	2.90
8	Kariminejad neurodevelopmental syndrome	Enrichment	RBSN	2.90
9	Aquagenic palmoplantar keratoderma	Enrichment	CFTR	2.90
10	Severe congenital neutropenia 5	Enrichment	VPS45	2.90
11	Cataract 31, multiple types	Enrichment	CHMP4B	2.79
12	Spermatogenic failure, y-linked, 2	Enrichment	CFTR	2.60
13	Developmental and epileptic encephalopathy 96	Enrichment	NSF	2.60
14	Submucosal cleft palate	Enrichment	UBB	2.60
15	Cleft hard palate	Enrichment	UBB	2.60
16	Uvula, bifid	Enrichment	UBB	2.43
17	Nuchal bleb, familial	Enrichment	CFTR	2.43
18	Cleft soft palate	Enrichment	UBB	2.43
19	Developmental and epileptic encephalopathy 2	Enrichment	SNAP25	2.30
20	Idiopathic bronchiectasis	Enrichment	CFTR	2.30
21	Cataract 6, multiple types	Enrichment	CHMP4B	2.09
22	Focal epilepsy	Enrichment	SNAP25	2.06
23	Severe congenital neutropenia	Enrichment	VPS45	2.00
24	Bronchiectasis with or without elevated sweat chloride 1	Enrichment	CFTR	1.95
25	Vas deferens, congenital bilateral aplasia of	Enrichment	CFTR	1.95
26	Early-onset posterior polar cataract	Enrichment	CHMP4B	1.89
27	Presynaptic congenital myasthenic syndromes	Enrichment	SNAP25	1.86
28	Stereotypic movement disorder	Enrichment	SNAP25	1.79
29	Hereditary chronic pancreatitis	Enrichment	CFTR	1.76
30	Lynch syndrome	Enrichment	CFTR	1.73
31	Pancreatitis, hereditary	Enrichment	CFTR	1.68
32	Cystic fibrosis	Enrichment	CFTR	1.40
33	Male infertility	Enrichment	CFTR	1.38
34	Developmental and epileptic encephalopathy	Enrichment	SNAP25	1.35
35	Optic atrophy plus syndrome	Enrichment	SNAP25	1.27
36	Male infertility with azoospermia or oligozoospermia due to single gene mutation	Enrichment	CFTR	1.17
37	Microcephaly	Enrichment	SNAP25	0.84

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

Delta508-CFTR traffic / Sorting endosome formation in CF

Pathway Network for Delta508-CFTR traffic / Sorting endosome formation in CF

Member Pathways for Delta508-CFTR traffic / Sorting endosome formation in CF

Pathways in the Delta508-CFTR traffic / Sorting endosome formation in CF SuperPath

Associated Genes for Delta508-CFTR traffic / Sorting endosome formation in CF

Associated Disorders for Delta508-CFTR traffic / Sorting endosome formation in CF

Disorders associated with Delta508-CFTR traffic / Sorting endosome formation in CF SuperPath

STRING Interaction Network for Delta508-CFTR traffic / Sorting endosome formation in CF

Sources for Delta508-CFTR traffic / Sorting endosome formation in CF