adisease

Showing entry for Cockayne Syndrome

General Disease Information
BXGD Id	BXGD000593
Disease Name	Cockayne Syndrome
Disease CUI Id	C0009207
MeSH Codes	C16 C18 C05 C10
Disease Class Name	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System 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
O14757	BXGT004092	Serine/threonine-protein kinase Chk1	1111	reviewed	Kinase
O15527	BXGT004176	N-glycosylase/DNA lyase	4968	reviewed
O75844	BXGT005156	CAAX prenyl protease 1 homolog	10269	reviewed	Enzyme
P00374	BXGT005520	Dihydrofolate reductase	1719	reviewed	Enzyme
P00813	BXGT005667	Adenosine deaminase	100	reviewed	Enzyme
P01116	BXGT005733	GTPase KRas	3845	reviewed	Enzyme modulator
P01270	BXGT005746	Parathyroid hormone	5741	reviewed
P01574	BXGT005768	Interferon beta	3456	reviewed
P02545	BXGT005889	Prelamin-A/C	4000	reviewed
P02724	BXGT005934	Glycophorin-A	2993	reviewed
P02795	BXGT005968	Metallothionein-2	4502	reviewed
P04040	BXGT006132	Catalase	847	reviewed	Enzyme
P04049	BXGT006133	RAF proto-oncogene serine/threonine-protein kinase	5894	reviewed	Kinase
P04637	BXGT006243	Cellular tumor antigen p53	7157	reviewed	Transcription factor
P05186	BXGT006338	Alkaline phosphatase, tissue-nonspecific isozyme	249	reviewed	Enzyme
P08183	BXGT006741	ATP-dependent translocase ABCB1	5243	reviewed	Transporter
P09874	BXGT006934	Poly [ADP-ribose] polymerase 1	142	reviewed
P16278	BXGT008213	Beta-galactosidase	2720	reviewed	Enzyme
P18074	BXGT008374	General transcription and DNA repair factor IIH helicase subunit XPD	2068	reviewed	Enzyme
P18847	BXGT008431	Cyclic AMP-dependent transcription factor ATF-3	467	reviewed	Transcription factor
P23560	BXGT008883	Brain-derived neurotrophic factor	627	reviewed	Signaling
P27695	BXGT009199	DNA-(apurinic or apyrimidinic site) lyase	328	reviewed
P32322	BXGT009624	Pyrroline-5-carboxylate reductase 1, mitochondrial	5831	reviewed
P39748	BXGT010134	Flap endonuclease 1	2237	reviewed	Enzyme
P43351	BXGT010380	DNA repair protein RAD52 homolog	5893	reviewed	Nucleic acid binding
P45983	BXGT010494	Mitogen-activated protein kinase 8	5599	reviewed	Kinase
P51531	BXGT010851	Probable global transcription activator SNF2L2	6595	reviewed	Epigenetic regulator
P51532	BXGT010852	Transcription activator BRG1	6597	reviewed	Epigenetic regulator
P54132	BXGT011032	Bloom syndrome protein	641	reviewed
P55055	BXGT011101	Oxysterols receptor LXR-beta	7376	reviewed	Nuclear receptor
Q00987	BXGT012559	E3 ubiquitin-protein ligase Mdm2	4193	reviewed	Nucleic acid binding
Q01831	BXGT012621	DNA repair protein complementing XP-C cells	7508	reviewed	Nucleic acid binding
Q03468	BXGT012716	DNA excision repair protein ERCC-6	2074	reviewed
Q06124	BXGT012856	Tyrosine-protein phosphatase non-receptor type 11	5781	reviewed
Q06609	BXGT012884	DNA repair protein RAD51 homolog 1	5888	reviewed
Q07889	BXGT012946	Son of sevenless homolog 1	6654	reviewed	Enzyme modulator
Q13535	BXGT013370	Serine/threonine-protein kinase ATR	545	reviewed	Kinase
Q14191	BXGT013452	Werner syndrome ATP-dependent helicase	7486	reviewed	Enzyme
Q92963	BXGT019401	GTP-binding protein Rit1	6016	reviewed	Enzyme modulator
Q93009	BXGT019455	Ubiquitin carboxyl-terminal hydrolase 7	7874	reviewed	Enzyme
Q96EB6	BXGT019646	NAD-dependent protein deacetylase sirtuin-1	23411	reviewed	Epigenetic regulator
Q9UBV7	BXGT021665	Beta-1,4-galactosyltransferase 7	11285	reviewed
Q9UKV0	BXGT021750	Histone deacetylase 9	9734	reviewed	Epigenetic regulator
Q59FF6	BXGT023693	Excision repair cross-complementing rodent repair deficiency, complementation group 6 variant	2074	unreviewed
Q9H040	BXGT024831	SprT-like domain-containing protein Spartan	83932	reviewed
P38646	BXGT024954	Stress-70 protein, mitochondrial	3313	reviewed
Q8N8Q3	BXGT025150	Endonuclease V	284131	reviewed
Q96MS0	BXGT025241	Roundabout homolog 3	64221	reviewed	Receptor
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}