adisease

Showing entry for Aarskog syndrome

General Disease Information
BXGD Id	BXGD004007
Disease Name	Aarskog syndrome
Disease CUI Id	C0175701
MeSH Codes	C16 C05 C19 C14
Disease Class Name	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System 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
O95470	BXGT005382	Sphingosine-1-phosphate lyase 1	8879	reviewed
P01116	BXGT005733	GTPase KRas	3845	reviewed	Enzyme modulator
P01189	BXGT005742	Pro-opiomelanocortin	5443	reviewed
P04049	BXGT006133	RAF proto-oncogene serine/threonine-protein kinase	5894	reviewed	Kinase
P05108	BXGT006317	Cholesterol side-chain cleavage enzyme, mitochondrial	1583	reviewed
P10415	BXGT007567	Apoptosis regulator Bcl-2	596	reviewed	Signaling
P33991	BXGT009745	DNA replication licensing factor MCM4	4173	reviewed	Enzyme
P60709	BXGT011322	Actin, cytoplasmic 1	60	reviewed	Cellular structure
P60953	BXGT011342	Cell division control protein 42 homolog	998	reviewed	Enzyme modulator
Q01718	BXGT012609	Adrenocorticotropic hormone receptor	4158	reviewed	G-protein coupled receptor
Q01726	BXGT012610	Melanocyte-stimulating hormone receptor	4157	reviewed	G-protein coupled receptor
Q06124	BXGT012856	Tyrosine-protein phosphatase non-receptor type 11	5781	reviewed
Q07889	BXGT012946	Son of sevenless homolog 1	6654	reviewed	Enzyme modulator
Q13423	BXGT013352	NAD(P) transhydrogenase, mitochondrial	23530	reviewed	Enzyme
Q13535	BXGT013370	Serine/threonine-protein kinase ATR	545	reviewed	Kinase
Q16698	BXGT013659	2,4-dienoyl-CoA reductase, mitochondrial	1666	reviewed	Enzyme
Q86VQ6	BXGT017620	Thioredoxin reductase 3	114112	reviewed	Enzyme
Q92963	BXGT019401	GTP-binding protein Rit1	6016	reviewed	Enzyme modulator
Q9NNW7	BXGT021139	Thioredoxin reductase 2, mitochondrial	10587	reviewed	Enzyme

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}