adisease

Showing entry for Aminoaciduria

General Disease Information
BXGD Id	BXGD004947
Disease Name	Aminoaciduria
Disease CUI Id	C0238621
MeSH Codes	C16 C18
Disease Class Name	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
Semantic Type	Disease or Syndrome
Human Phenotype Ontology Id	HP:0001939 HP:0000119
Human Phenotype Ontology Term	Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system
Disease Ontology Id
Disease Ontology Class Name
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
O00142	BXGT003883	Thymidine kinase 2, mitochondrial	7084	reviewed	Kinase
O60931	BXGT004911	Cystinosin	1497	reviewed
O75844	BXGT005156	CAAX prenyl protease 1 homolog	10269	reviewed	Enzyme
O75880	BXGT005158	Protein SCO1 homolog, mitochondrial	6341	reviewed	Enzyme
O95954	BXGT005408	Formimidoyltransferase-cyclodeaminase	10841	reviewed	Enzyme
P00480	BXGT005551	Ornithine carbamoyltransferase, mitochondrial	5009	reviewed
P01270	BXGT005746	Parathyroid hormone	5741	reviewed
P02545	BXGT005889	Prelamin-A/C	4000	reviewed
P04181	BXGT006165	Ornithine aminotransferase, mitochondrial	4942	reviewed	Enzyme
P04424	BXGT006214	Argininosuccinate lyase	435	reviewed	Enzyme
P04637	BXGT006243	Cellular tumor antigen p53	7157	reviewed	Transcription factor
P07902	BXGT006697	Galactose-1-phosphate uridylyltransferase	2592	reviewed	Enzyme
P11172	BXGT007665	Uridine 5'-monophosphate synthase	7372	reviewed
P17050	BXGT008277	Alpha-N-acetylgalactosaminidase	4668	reviewed
P18074	BXGT008374	General transcription and DNA repair factor IIH helicase subunit XPD	2068	reviewed	Enzyme
P24298	BXGT008960	Alanine aminotransferase 1	2875	reviewed	Enzyme
P31327	BXGT009523	Carbamoyl-phosphate synthase [ammonia], mitochondrial	1373	reviewed	Enzyme
P31639	BXGT009556	Sodium/glucose cotransporter 2	6524	reviewed	Transporter
P41180	BXGT010230	Extracellular calcium-sensing receptor	846	reviewed	G-protein coupled receptor
P41235	BXGT010241	Hepatocyte nuclear factor 4-alpha	3172	reviewed	Nuclear receptor
P43005	BXGT010349	Excitatory amino acid transporter 3	6505	reviewed	Transporter
P48506	BXGT010635	Glutamate--cysteine ligase catalytic subunit	2729	reviewed	Enzyme
P50542	BXGT010808	Peroxisomal targeting signal 1 receptor	5830	reviewed	Transporter
P51795	BXGT010891	H(+)/Cl(-) exchange transporter 5	1184	reviewed	Ion channel
P56192	BXGT011149	Methionine--tRNA ligase, cytoplasmic	4141	reviewed
P61626	BXGT011382	Lysozyme C	4069	reviewed
Q01831	BXGT012621	DNA repair protein complementing XP-C cells	7508	reviewed	Nucleic acid binding
Q01968	BXGT012626	Inositol polyphosphate 5-phosphatase OCRL-1	4952	reviewed	Enzyme
Q14376	BXGT013464	UDP-glucose 4-epimerase	2582	reviewed
Q16719	BXGT013662	Kynureninase	8942	reviewed	Enzyme
Q6NVY1	BXGT016432	3-hydroxyisobutyryl-CoA hydrolase, mitochondrial	26275	reviewed	Enzyme
Q7LG56	BXGT016999	Ribonucleoside-diphosphate reductase subunit M2 B	50484	reviewed	Enzyme
Q99519	BXGT019928	Sialidase-1	4758	reviewed	Enzyme
Q9NP58	BXGT021143	ATP-binding cassette sub-family B member 6, mitochondrial	10058	reviewed	Transporter
Q9P2R7	BXGT021304	Succinate--CoA ligase [ADP-forming] subunit beta, mitochondrial	8803	reviewed	Enzyme
Q9UBQ7	BXGT021661	Glyoxylate reductase/hydroxypyruvate reductase	9380	reviewed	Enzyme
P35670	BXGT023695	Copper-transporting ATPase 2	540	reviewed	Transporter
P07954	BXGT023939	Fumarate hydratase, mitochondrial	2271	reviewed	Enzyme
Q695T7	BXGT024794	Sodium-dependent neutral amino acid transporter B(0)AT1	340024	reviewed
P28715	BXGT025675	DNA repair protein complementing XP-G cells	2073	reviewed

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}