adisease

Showing entry for Ciliopathies

General Disease Information
BXGD Id	BXGD022377
Disease Name	Ciliopathies
Disease CUI Id	C4277690
MeSH Codes	C16
Disease Class Name	Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Semantic Type	Congenital Abnormality
Human Phenotype Ontology Id
Human Phenotype Ontology Term
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
O00329	BXGT003909	Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform	5293	reviewed	Kinase
O43557	BXGT004600	Tumor necrosis factor ligand superfamily member 14	8740	reviewed	Signaling
O60566	BXGT004884	Mitotic checkpoint serine/threonine-protein kinase BUB1 beta	701	reviewed	Kinase
O95237	BXGT005361	Lecithin retinol acyltransferase	9227	reviewed
P01137	BXGT005737	Transforming growth factor beta-1 proprotein	7040	reviewed	Signaling
P01375	BXGT005753	Tumor necrosis factor	7124	reviewed	Signaling
P04049	BXGT006133	RAF proto-oncogene serine/threonine-protein kinase	5894	reviewed	Kinase
P08100	BXGT006725	Rhodopsin	6010	reviewed	G-protein coupled receptor
P08151	BXGT006731	Zinc finger protein GLI1	2735	reviewed
P10070	BXGT007534	Zinc finger protein GLI2	2736	reviewed
P12724	BXGT007837	Eosinophil cationic protein	6037	reviewed
P13500	BXGT007916	C-C motif chemokine 2	6347	reviewed	Signaling
P13569	BXGT007923	Cystic fibrosis transmembrane conductance regulator	1080	reviewed	Ion channel
P15311	BXGT008106	Ezrin	7430	reviewed	Cellular structure
P19021	BXGT008449	Peptidyl-glycine alpha-amidating monooxygenase	5066	reviewed	Enzyme
P20794	BXGT008600	Serine/threonine-protein kinase MAK	4117	reviewed	Kinase
P20839	BXGT008608	Inosine-5'-monophosphate dehydrogenase 1	3614	reviewed	Enzyme
P21549	BXGT008661	Serine--pyruvate aminotransferase	189	reviewed	Enzyme
P22607	BXGT008784	Fibroblast growth factor receptor 3	2261	reviewed	Kinase
P24385	BXGT008965	G1/S-specific cyclin-D1	595	reviewed	Enzyme modulator
P35222	BXGT009799	Catenin beta-1	1499	reviewed
P37088	BXGT009961	Amiloride-sensitive sodium channel subunit alpha	6337	reviewed	Ion channel
P40337	BXGT010174	von Hippel-Lindau disease tumor suppressor	7428	reviewed	Enzyme
P41208	BXGT010233	Centrin-2	1069	reviewed	Calcium-binding protein
P42336	BXGT010302	Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	5290	reviewed	Kinase
P42338	BXGT010303	Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit beta isoform	5291	reviewed	Kinase
P48736	BXGT010658	Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform	5294	reviewed	Kinase
P50897	BXGT010823	Palmitoyl-protein thioesterase 1	5538	reviewed	Enzyme
P51168	BXGT010842	Amiloride-sensitive sodium channel subunit beta	6338	reviewed	Ion channel
P51170	BXGT010843	Amiloride-sensitive sodium channel subunit gamma	6340	reviewed	Ion channel
P51957	BXGT010910	Serine/threonine-protein kinase Nek4	6787	reviewed	Kinase
P52732	BXGT010948	Kinesin-like protein KIF11	3832	reviewed	Cellular structure
P52952	BXGT010966	Homeobox protein Nkx-2.5	1482	reviewed	Transcription factor
P60709	BXGT011322	Actin, cytoplasmic 1	60	reviewed	Cellular structure
P61006	BXGT011345	Ras-related protein Rab-8A	4218	reviewed
P61964	BXGT011396	WD repeat-containing protein 5	11091	reviewed
P82279	BXGT011972	Protein crumbs homolog 1	23418	reviewed
Q04721	BXGT012777	Neurogenic locus notch homolog protein 2	4853	reviewed
Q04771	BXGT012783	Activin receptor type-1	90	reviewed	Kinase
Q13402	BXGT013348	Unconventional myosin-VIIa	4647	reviewed	Cellular structure
Q13415	BXGT013350	Origin recognition complex subunit 1	4998	reviewed	Nucleic acid binding
Q13535	BXGT013370	Serine/threonine-protein kinase ATR	545	reviewed	Kinase
Q13563	BXGT013377	Polycystin-2	5311	reviewed	Ion channel
Q13705	BXGT013393	Activin receptor type-2B	93	reviewed	Kinase
Q15131	BXGT013545	Cyclin-dependent kinase 10	8558	reviewed	Kinase
Q15139	BXGT013546	Serine/threonine-protein kinase D1	5587	reviewed	Kinase
Q15831	BXGT013604	Serine/threonine-protein kinase STK11	6794	reviewed	Kinase
Q2M1P5	BXGT014129	Kinesin-like protein KIF7	374654	reviewed
Q495M9	BXGT014765	Usher syndrome type-1G protein	124590	reviewed
Q53EZ4	BXGT015010	Centrosomal protein of 55 kDa	55165	reviewed
Q7Z494	BXGT017254	Nephrocystin-3	27031	reviewed
Q8NB14	BXGT018534	Ubiquitin carboxyl-terminal hydrolase 38	84640	reviewed	Enzyme
Q8NCM8	BXGT018548	Cytoplasmic dynein 2 heavy chain 1	79659	reviewed	Enzyme
Q8TD19	BXGT018804	Serine/threonine-protein kinase Nek9	91754	reviewed	Kinase
Q92834	BXGT019381	X-linked retinitis pigmentosa GTPase regulator	6103	reviewed
Q96NR8	BXGT019701	Retinol dehydrogenase 12	145226	reviewed	Enzyme
Q96PY6	BXGT019712	Serine/threonine-protein kinase Nek1	4750	reviewed	Kinase
Q96QU1	BXGT019721	Protocadherin-15	65217	reviewed
Q96RI1	BXGT019727	Bile acid receptor	9971	reviewed	Nuclear receptor
Q9H0F7	BXGT020435	ADP-ribosylation factor-like protein 6	84100	reviewed
Q9H251	BXGT020449	Cadherin-23	64072	reviewed
Q9NQH7	BXGT021164	Xaa-Pro aminopeptidase 3	63929	reviewed	Enzyme
Q9NRR6	BXGT021193	Phosphatidylinositol polyphosphate 5-phosphatase type IV	56623	reviewed
Q9NZN9	BXGT021280	Aryl-hydrocarbon-interacting protein-like 1	23746	reviewed	Chaperone
Q9UMX1	BXGT021778	Suppressor of fused homolog	51684	reviewed
Q9UPZ9	BXGT021804	Serine/threonine-protein kinase ICK	22858	reviewed	Kinase
Q9Y547	BXGT022288	Intraflagellar transport protein 25 homolog	51668	reviewed
Q9Y6K9	BXGT022333	NF-kappa-B essential modulator	8517	reviewed	Kinase
Q9Y6N9	BXGT022337	Harmonin	10083	reviewed	Cellular structure
Q96KN7	BXGT022801	X-linked retinitis pigmentosa GTPase regulator-interacting protein 1	57096	reviewed	Enzyme modulator
Q16254	BXGT023368	Transcription factor E2F4	1874	reviewed	Nucleic acid binding
Q9H694	BXGT024116	Protein bicaudal C homolog 1	80114	reviewed	Transporter
Q13432	BXGT024144	Protein unc-119 homolog A	9094	reviewed	Receptor
Q9UKL0	BXGT024575	REST corepressor 1	23186	reviewed
Q86SG6	BXGT026136	Serine/threonine-protein kinase Nek8	284086	reviewed	Kinase

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}