adisease

Showing entry for Neurofibromatoses

General Disease Information
BXGD Id	BXGD003974
Disease Name	Neurofibromatoses
Disease CUI Id	C0162678
MeSH Codes	C16 C04 C10
Disease Class Name	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
Semantic Type	Neoplastic Process
Human Phenotype Ontology Id	HP:0001574 HP:0000707 HP:0002664
Human Phenotype Ontology Term	Abnormality of the integument; Abnormality of the nervous system; Neoplasm
Disease Ontology Id	DOID:630
Disease Ontology Class Name	genetic disease
Disorder Network	disorder-protein-compound-food associations

The disease-related target proteins

Proteins

Uniport Id	BXGT Id	Protein Name	Gene	Status	Protein Class
Uniport Id	BXGT Id	Protein name	Gene	Status	Protein class
A0A024RAV5	BXGT000013	V-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog, isoform CRA_b	3845	unreviewed
O00255	BXGT003903	Menin	4221	reviewed
O14733	BXGT004087	Dual specificity mitogen-activated protein kinase kinase 7	5609	reviewed	Kinase
O14965	BXGT004117	Aurora kinase A	6790	reviewed	Kinase
O60885	BXGT004906	Bromodomain-containing protein 4	23476	reviewed	Epigenetic regulator
O75530	BXGT005135	Polycomb protein EED	8726	reviewed
P00352	BXGT005510	Retinal dehydrogenase 1	216	reviewed	Enzyme
P00533	BXGT005575	Epidermal growth factor receptor	1956	reviewed	Kinase
P00747	BXGT005639	Plasminogen	5340	reviewed	Enzyme
P01116	BXGT005733	GTPase KRas	3845	reviewed	Enzyme modulator
P01133	BXGT005736	Pro-epidermal growth factor	1950	reviewed
P01137	BXGT005737	Transforming growth factor beta-1 proprotein	7040	reviewed	Signaling
P01138	BXGT005738	Beta-nerve growth factor	4803	reviewed	Signaling
P02751	BXGT005943	Fibronectin	2335	reviewed	Signaling
P04271	BXGT006177	Protein S100-B	6285	reviewed	Calcium-binding protein
P04626	BXGT006238	Receptor tyrosine-protein kinase erbB-2	2064	reviewed	Kinase
P04637	BXGT006243	Cellular tumor antigen p53	7157	reviewed	Transcription factor
P05121	BXGT006320	Plasminogen activator inhibitor 1	5054	reviewed	Enzyme modulator
P06401	BXGT006436	Progesterone receptor	5241	reviewed	Nuclear receptor
P07949	BXGT006703	Proto-oncogene tyrosine-protein kinase receptor Ret	5979	reviewed	Kinase
P08069	BXGT006723	Insulin-like growth factor 1 receptor	3480	reviewed	Kinase
P08697	BXGT006815	Alpha-2-antiplasmin	5345	reviewed	Enzyme modulator
P09038	BXGT006851	Fibroblast growth factor 2	2247	reviewed	Signaling
P09211	BXGT006869	Glutathione S-transferase P	2950	reviewed
P09619	BXGT006911	Platelet-derived growth factor receptor beta	5159	reviewed	Kinase
P10275	BXGT007552	Androgen receptor	367	reviewed	Nuclear receptor
P10644	BXGT007597	cAMP-dependent protein kinase type I-alpha regulatory subunit	5573	reviewed
P10721	BXGT007605	Mast/stem cell growth factor receptor Kit	3815	reviewed	Kinase
P11388	BXGT007697	DNA topoisomerase 2-alpha	7153	reviewed
P11413	BXGT007701	Glucose-6-phosphate 1-dehydrogenase	2539	reviewed	Enzyme
P11473	BXGT007709	Vitamin D3 receptor	7421	reviewed	Nuclear receptor
P11802	BXGT007750	Cyclin-dependent kinase 4	1019	reviewed	Kinase
P14210	BXGT007994	Hepatocyte growth factor	3082	reviewed	Enzyme
P15056	BXGT008075	Serine/threonine-protein kinase B-raf	673	reviewed	Kinase
P15692	BXGT008147	Vascular endothelial growth factor A	7422	reviewed	Signaling
P16070	BXGT008186	CD44 antigen	960	reviewed
P16234	BXGT008209	Platelet-derived growth factor receptor alpha	5156	reviewed	Kinase
P19544	BXGT008494	Wilms tumor protein	7490	reviewed	Nucleic acid binding
P20936	BXGT008619	Ras GTPase-activating protein 1	5921	reviewed	Enzyme modulator
P21359	BXGT008640	Neurofibromin	4763	reviewed	Enzyme modulator
P23297	BXGT008848	Protein S100-A1	6271	reviewed	Calcium-binding protein
P24385	BXGT008965	G1/S-specific cyclin-D1	595	reviewed	Enzyme modulator
P28482	BXGT009263	Mitogen-activated protein kinase 1	5594	reviewed	Kinase
P28907	BXGT009301	ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1	952	reviewed	Enzyme
P29323	BXGT009334	Ephrin type-B receptor 2	2048	reviewed	Kinase
P35222	BXGT009799	Catenin beta-1	1499	reviewed
P40337	BXGT010174	von Hippel-Lindau disease tumor suppressor	7428	reviewed	Enzyme
P40692	BXGT010195	DNA mismatch repair protein Mlh1	4292	reviewed	Nucleic acid binding
P40763	BXGT010202	Signal transducer and activator of transcription 3	6774	reviewed	Nucleic acid binding
P42336	BXGT010302	Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	5290	reviewed	Kinase
P45452	BXGT010462	Collagenase 3	4322	reviewed	Enzyme
P46100	BXGT010508	Transcriptional regulator ATRX	546	reviewed
P48061	BXGT010616	Stromal cell-derived factor 1	6387	reviewed
P51531	BXGT010851	Probable global transcription activator SNF2L2	6595	reviewed	Epigenetic regulator
P52701	BXGT010943	DNA mismatch repair protein Msh6	2956	reviewed	Nucleic acid binding
P60953	BXGT011342	Cell division control protein 42 homolog	998	reviewed	Enzyme modulator
P61073	BXGT011352	C-X-C chemokine receptor type 4	7852	reviewed	G-protein coupled receptor
Q00987	BXGT012559	E3 ubiquitin-protein ligase Mdm2	4193	reviewed	Nucleic acid binding
Q01196	BXGT012575	Runt-related transcription factor 1	861	reviewed	Transcription factor
Q03181	BXGT012701	Peroxisome proliferator-activated receptor delta	5467	reviewed	Nuclear receptor
Q04609	BXGT012768	Glutamate carboxypeptidase 2	2346	reviewed	Enzyme
Q04724	BXGT012778	Transducin-like enhancer protein 1	7088	reviewed	Transcription factor
Q06124	BXGT012856	Tyrosine-protein phosphatase non-receptor type 11	5781	reviewed
Q13153	BXGT013319	Serine/threonine-protein kinase PAK 1	5058	reviewed	Kinase
Q13315	BXGT013339	Serine-protein kinase ATM	472	reviewed	Kinase
Q14524	BXGT013478	Sodium channel protein type 5 subunit alpha	6331	reviewed	Ion channel
Q15022	BXGT013523	Polycomb protein SUZ12	23512	reviewed	Nucleic acid binding
Q15910	BXGT013612	Histone-lysine N-methyltransferase EZH2	2146	reviewed	Epigenetic regulator
Q16288	BXGT013625	NT-3 growth factor receptor	4916	reviewed	Kinase
Q6ZQY3	BXGT016636	Acidic amino acid decarboxylase GADL1	339896	reviewed
Q8WZ42	BXGT019023	Titin	7273	reviewed	Kinase
Q96A70	BXGT019615	Antizyme inhibitor 2	113451	reviewed	Enzyme
Q96QE3	BXGT019718	ATPase family AAA domain-containing protein 5	79915	reviewed
Q9NZQ7	BXGT021281	Programmed cell death 1 ligand 1	29126	reviewed	Receptor
Q9Y6K9	BXGT022333	NF-kappa-B essential modulator	8517	reviewed	Kinase
Q92847	BXGT022673	Growth hormone secretagogue receptor type 1	2693	reviewed	G-protein coupled receptor
P35240	BXGT022927	Merlin	4771	reviewed
P25054	BXGT022961	Adenomatous polyposis coli protein	324	reviewed
O60232	BXGT024169	Protein ZNRD2	10534	reviewed
Q7Z699	BXGT025789	Sprouty-related, EVH1 domain-containing protein 1	161742	reviewed	Receptor

The disease-related compounds

Compounds

BXGC Id	Compound Name	Structure	Molecular Weight	Number of targets^{?Number of times compound connecting the disease , higher numbers indicate the compound is more associated with the disease}

The disease-related foods

Foods

BXGF Id	Food Name	Scientific Name	Food Group	Number of compounds in food^{?Number of compounds in food that connecting disease, higher numbers indicate the more compounds in food are more associated with the dusease}