Cholesterol and Sphingolipids transport / Influx to the early endosome in lung (normal and CF)

No Pathway Network information available for Cholesterol and Sphingolipids transport / Influx to the early endosome in lung (normal and CF)

Pathways in the Cholesterol and Sphingolipids transport / Influx to the early endosome in lung (normal and CF) SuperPath

#	Name	Source	Genes
1	Cholesterol and Sphingolipids transport / Influx to the early endosome in lung (normal and CF)	GeneGo (Thomson Reuters)	AP2A1 AP2A2 AP2B1 AP2M1 AP2S1 CAV1 CAV2 CLTA CLTB CLTC DAB2 DNM2 LDLR LDLRAP1 RAB4A RAB4B RAB5A RBSN (see all 18) (see less)
2	Endocytic Trafficking of EGFR	QIAGEN	AP2A1 AP2A2 AP2B1 AP2M1 AP2S1 CLTA CLTB CLTC DNM1 DNM2 EGF EGFR EPN1 EPN2 EPN3 EPS15 SRC (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	AP2A1	Adaptor Related Protein Complex 2 Subunit Alpha 1	Protein Coding	2
2	AP2A2	Adaptor Related Protein Complex 2 Subunit Alpha 2	Protein Coding	2
3	AP2B1	Adaptor Related Protein Complex 2 Subunit Beta 1	Protein Coding	2
4	AP2M1	Adaptor Related Protein Complex 2 Subunit Mu 1	Protein Coding	2
5	AP2S1	Adaptor Related Protein Complex 2 Subunit Sigma 1	Protein Coding	2
6	CLTA	Clathrin Light Chain A	Protein Coding	2
7	CLTB	Clathrin Light Chain B	Protein Coding	2
8	CLTC	Clathrin Heavy Chain	Protein Coding	2
9	DNM2	Dynamin 2	Protein Coding	2
10	CAV1	Caveolin 1	Protein Coding	1
11	CAV2	Caveolin 2	Protein Coding	1
12	DAB2	DAB Adaptor Protein 2	Protein Coding	1
13	LDLR	Low Density Lipoprotein Receptor	Protein Coding	1
14	RAB4A	RAB4A, Member RAS Oncogene Family	Protein Coding	1
15	RAB5A	RAB5A, Member RAS Oncogene Family	Protein Coding	1
16	LDLRAP1	Low Density Lipoprotein Receptor Adaptor Protein 1	Protein Coding	1
17	RAB4B	RAB4B, Member RAS Oncogene Family	Protein Coding	1
18	RBSN	Rabenosyn, RAB Effector	Protein Coding	1
19	DNM1	Dynamin 1	Protein Coding	1
20	EGF	Epidermal Growth Factor	Protein Coding	1
21	EGFR	Epidermal Growth Factor Receptor	Protein Coding	1
22	EPN1	Epsin 1	Protein Coding	1
23	EPN2	Epsin 2	Protein Coding	1
24	EPN3	Epsin 3	Protein Coding	1
25	EPS15	Epidermal Growth Factor Receptor Pathway Substrate 15	Protein Coding	1
26	SRC	SRC Proto-Oncogene, Non-Receptor Tyrosine Kinase	Protein Coding	1

Disorders associated with Cholesterol and Sphingolipids transport / Influx to the early endosome in lung (normal and CF) SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Hypercholesterolemia, familial, 4	Enrichment	LDLR, LDLRAP1	5.30
2	Homozygous familial hypercholesterolemia	Enrichment	LDLR, LDLRAP1	4.33
3	Familial hypercholesterolemia	Enrichment	LDLR, LDLRAP1	3.76
4	Hypocalciuric hypercalcemia, familial, type iii	Enrichment	AP2S1	2.90
5	Hypomagnesemia 4, renal	Enrichment	EGF	2.90
6	Charcot-marie-tooth disease, dominant intermediate b	Enrichment	DNM2	2.90
7	Lethal congenital contracture syndrome 5	Enrichment	DNM2	2.90
8	Thrombocytopenia 6	Enrichment	SRC	2.90
9	Autosomal dominant charcot-marie-tooth disease type 2m	Enrichment	DNM2	2.90
10	Egf-related primary hypomagnesemia with intellectual disability	Enrichment	EGF	2.90
11	Lipodystrophy, congenital generalized, type 3	Enrichment	CAV1	2.88
12	Pulmonary hypertension, primary, 3	Enrichment	CAV1	2.88
13	Myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities	Enrichment	RBSN	2.88
14	Lipodystrophy, familial partial, type 7	Enrichment	CAV1	2.88
15	Kariminejad neurodevelopmental syndrome	Enrichment	RBSN	2.88
16	Undetermined early-onset epileptic encephalopathy	Enrichment	CLTC, DNM1	2.66
17	Intellectual developmental disorder, autosomal dominant 60, with seizures	Enrichment	AP2M1	2.60
18	Hyperlipoproteinemia, type iii	Enrichment	LDLR	2.58
19	Myopathy, centronuclear, x-linked	Enrichment	DNM2	2.43
20	Neonatal nephrocutaneous inflammatory syndrome	Enrichment	EGFR	2.43
21	Intellectual developmental disorder, autosomal dominant 56	Enrichment	CLTC	2.43
22	Developmental and epileptic encephalopathy 31b	Enrichment	DNM1	2.43
23	Neonatal inflammatory skin and bowel disease	Enrichment	EGFR	2.43
24	Hypercholesterolemia, familial, 2	Enrichment	LDLR	2.40
25	Intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasia	Enrichment	LDLR	2.40
26	Syndromic x-linked intellectual disability najm type	Enrichment	LDLR	2.40
27	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1	Enrichment	CLTC	2.30
28	Developmental and epileptic encephalopathy 31a	Enrichment	DNM1	2.20
29	Hyperlipidemia, familial combined, 3	Enrichment	LDLR	2.18
30	Diffuse cutaneous systemic sclerosis	Enrichment	CAV1	2.18
31	Myopathy, centronuclear, 1	Enrichment	DNM2	2.13
32	Cowden syndrome 1	Enrichment	EGFR	2.13
33	Inflammatory myofibroblastic tumor	Enrichment	CLTC	2.13
34	Lung squamous cell carcinoma	Enrichment	EGFR	2.13
35	Lipid metabolism disorder	Enrichment	LDLR	2.10
36	Limited scleroderma	Enrichment	CAV1	2.10
37	Myelofibrosis	Enrichment	SRC	2.06
38	Squamous cell carcinoma, head and neck	Enrichment	EGFR	2.06
39	Noonan syndrome 3	Enrichment	CLTC	2.06
40	Renal cell carcinoma with mit translocations	Enrichment	CLTC	2.06
41	Lennox-gastaut syndrome	Enrichment	DNM1	2.00
42	Myoclonic-atonic epilepsy	Enrichment	AP2M1	1.95
43	Adult hepatocellular carcinoma	Enrichment	EGF	1.95
44	Coronary heart disease 5	Enrichment	LDLR	1.93
45	Lung non-small cell carcinoma	Enrichment	EGFR	1.86
46	Heritable pulmonary arterial hypertension	Enrichment	CAV1	1.84
47	Lip and oral cavity carcinoma	Enrichment	EGFR	1.83
48	Stereotypic movement disorder	Enrichment	DNM1	1.79
49	Hypercholesterolemia, familial, 1	Enrichment	LDLR	1.77
50	Osteoporosis	Enrichment	SRC	1.76
51	Lung cancer susceptibility 3	Enrichment	EGFR	1.76
52	Gliosarcoma	Enrichment	EGFR	1.70
53	Giant cell glioblastoma	Enrichment	EGFR	1.68
54	Arteriovenous malformations of the brain	Enrichment	EGFR	1.63
55	Centronuclear myopathy	Enrichment	DNM2	1.58
56	Bladder cancer	Enrichment	EGFR	1.45
57	Lung cancer	Enrichment	EGFR	1.40
58	Myopathy	Enrichment	DNM2	1.31
59	Charcot-marie-tooth disease	Enrichment	DNM2	1.30
60	West syndrome	Enrichment	DNM1	1.27
61	Thrombocytopenia	Enrichment	SRC	1.23
62	Autosomal dominant non-syndromic intellectual disability	Enrichment	CLTC	1.22
63	Colorectal cancer	Enrichment	SRC	0.98
64	Ovarian cancer	Enrichment	EGFR	0.92
65	Inherited cancer-predisposing syndrome	Enrichment	EGFR	0.81

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

Cholesterol and Sphingolipids transport / Influx to the early endosome in lung (normal and CF)

Pathway Network for Cholesterol and Sphingolipids transport / Influx to the early endosome in lung (normal and CF)

Member Pathways for Cholesterol and Sphingolipids transport / Influx to the early endosome in lung (normal and CF)

Pathways in the Cholesterol and Sphingolipids transport / Influx to the early endosome in lung (normal and CF) SuperPath

Associated Genes for Cholesterol and Sphingolipids transport / Influx to the early endosome in lung (normal and CF)

Associated Disorders for Cholesterol and Sphingolipids transport / Influx to the early endosome in lung (normal and CF)

Disorders associated with Cholesterol and Sphingolipids transport / Influx to the early endosome in lung (normal and CF) SuperPath

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