adisease

Showing entry for Noonan Syndrome

General Disease Information
BXGD Id	BXGD002075
Disease Name	Noonan Syndrome
Disease CUI Id	C0028326
MeSH Codes	C16 C17 C05 C14
Disease Class Name	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
Semantic Type	Disease or Syndrome
Human Phenotype Ontology Id
Human Phenotype Ontology Term
Disease Ontology Id	DOID:630 DOID:7 DOID:225 DOID:150
Disease Ontology Class Name	genetic disease; disease of anatomical entity; syndrome; disease of mental health
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
O14727	BXGT004084	Apoptotic protease-activating factor 1	317	reviewed
O14733	BXGT004087	Dual specificity mitogen-activated protein kinase kinase 7	5609	reviewed	Kinase
O43639	BXGT004608	Cytoplasmic protein NCK2	8440	reviewed
O60260	BXGT004864	E3 ubiquitin-protein ligase parkin	5071	reviewed	Enzyme
P01106	BXGT005730	Myc proto-oncogene protein	4609	reviewed	Transcription factor
P01111	BXGT005731	GTPase NRas	4893	reviewed	Enzyme modulator
P01112	BXGT005732	GTPase HRas	3265	reviewed	Enzyme modulator
P01116	BXGT005733	GTPase KRas	3845	reviewed	Enzyme modulator
P04049	BXGT006133	RAF proto-oncogene serine/threonine-protein kinase	5894	reviewed	Kinase
P09619	BXGT006911	Platelet-derived growth factor receptor beta	5159	reviewed	Kinase
P10147	BXGT007543	C-C motif chemokine 3	6348	reviewed	Signaling
P10301	BXGT007556	Ras-related protein R-Ras	6237	reviewed	Enzyme modulator
P10398	BXGT007564	Serine/threonine-protein kinase A-Raf	369	reviewed	Kinase
P12724	BXGT007837	Eosinophil cationic protein	6037	reviewed
P15056	BXGT008075	Serine/threonine-protein kinase B-raf	673	reviewed	Kinase
P17936	BXGT008357	Insulin-like growth factor-binding protein 3	3486	reviewed	Enzyme modulator
P18031	BXGT008369	Tyrosine-protein phosphatase non-receptor type 1	5770	reviewed
P20936	BXGT008619	Ras GTPase-activating protein 1	5921	reviewed	Enzyme modulator
P21359	BXGT008640	Neurofibromin	4763	reviewed	Enzyme modulator
P22681	BXGT008795	E3 ubiquitin-protein ligase CBL	867	reviewed	Enzyme
P24666	BXGT008986	Low molecular weight phosphotyrosine protein phosphatase	52	reviewed
P27361	BXGT009176	Mitogen-activated protein kinase 3	5595	reviewed	Kinase
P28482	BXGT009263	Mitogen-activated protein kinase 1	5594	reviewed	Kinase
P29317	BXGT009331	Ephrin type-A receptor 2	1969	reviewed	Kinase
P29323	BXGT009334	Ephrin type-B receptor 2	2048	reviewed	Kinase
P30307	BXGT009421	M-phase inducer phosphatase 3	995	reviewed	Enzyme
P36507	BXGT009923	Dual specificity mitogen-activated protein kinase kinase 2	5605	reviewed	Kinase
P40763	BXGT010202	Signal transducer and activator of transcription 3	6774	reviewed	Nucleic acid binding
P46531	BXGT010526	Neurogenic locus notch homolog protein 1	4851	reviewed
P51692	BXGT010885	Signal transducer and activator of transcription 5B	6777	reviewed	Nucleic acid binding
P51812	BXGT010893	Ribosomal protein S6 kinase alpha-3	6197	reviewed	Kinase
P60484	BXGT011307	Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN	5728	reviewed	Enzyme
P60953	BXGT011342	Cell division control protein 42 homolog	998	reviewed	Enzyme modulator
P62070	BXGT011404	Ras-related protein R-Ras2	22800	reviewed	Enzyme modulator
Q02750	BXGT012662	Dual specificity mitogen-activated protein kinase kinase 1	5604	reviewed	Kinase
Q04771	BXGT012783	Activin receptor type-1	90	reviewed	Kinase
Q05586	BXGT012826	Glutamate receptor ionotropic, NMDA 1	2902	reviewed	Ion channel
Q06124	BXGT012856	Tyrosine-protein phosphatase non-receptor type 11	5781	reviewed
Q07889	BXGT012946	Son of sevenless homolog 1	6654	reviewed	Enzyme modulator
Q13164	BXGT013322	Mitogen-activated protein kinase 7	5598	reviewed	Kinase
Q13224	BXGT013328	Glutamate receptor ionotropic, NMDA 2B	2904	reviewed	Ion channel
Q13535	BXGT013370	Serine/threonine-protein kinase ATR	545	reviewed	Kinase
Q92963	BXGT019401	GTP-binding protein Rit1	6016	reviewed	Enzyme modulator
Q92729	BXGT025605	Receptor-type tyrosine-protein phosphatase U	10076	reviewed	Enzyme
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}