Showing entry for Congenital exomphalos


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD012363
Disease NameCongenital exomphalos
Disease CUI IdC1306503
MeSH Codes C23   C16  
Disease Class NamePathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Semantic TypeCongenital Abnormality
Human Phenotype Ontology Id   
Human Phenotype Ontology Term
Disease Ontology Id DOID:7   DOID:0080015  
Disease Ontology Class Namedisease of anatomical entity; physical disorder
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
O14815 BXGT004102 Calpain-9 10753 reviewed Enzyme
O14936 BXGT004114 Peripheral plasma membrane protein CASK 8573 reviewed Kinase
O15120 BXGT004129 1-acyl-sn-glycerol-3-phosphate acyltransferase beta 10555 reviewed
O43175 BXGT004575 D-3-phosphoglycerate dehydrogenase 26227 reviewed Enzyme
O60706 BXGT004896 ATP-binding cassette sub-family C member 9 10060 reviewed Transporter
O75496 BXGT005132 Geminin 51053 reviewed
O75530 BXGT005135 Polycomb protein EED 8726 reviewed
O76039 BXGT005171 Cyclin-dependent kinase-like 5 6792 reviewed Kinase
O95390 BXGT005377 Growth/differentiation factor 11 10220 reviewed Signaling
P02452 BXGT005878 Collagen alpha-1(I) chain 1277 reviewed
P02458 BXGT005879 Collagen alpha-1(II) chain 1280 reviewed
P02461 BXGT005880 Collagen alpha-1(III) chain 1281 reviewed
P06213 BXGT006425 Insulin receptor 3643 reviewed Kinase
P07202 BXGT006565 Thyroid peroxidase 7173 reviewed Enzyme
P07437 BXGT006624 Tubulin beta chain 203068 reviewed Cellular structure
P07510 BXGT006631 Acetylcholine receptor subunit gamma 1146 reviewed Ion channel
P08236 BXGT006752 Beta-glucuronidase 2990 reviewed
P09871 BXGT006932 Complement C1s subcomponent 716 reviewed Enzyme
P10827 BXGT007623 Thyroid hormone receptor alpha 7067 reviewed Nuclear receptor
P10828 BXGT007624 Thyroid hormone receptor beta 7068 reviewed Nuclear receptor
P13224 BXGT007890 Platelet glycoprotein Ib beta chain 2812 reviewed
P15848 BXGT008162 Arylsulfatase B 411 reviewed
P16473 BXGT008234 Thyrotropin receptor 7253 reviewed G-protein coupled receptor
P18074 BXGT008374 General transcription and DNA repair factor IIH helicase subunit XPD 2068 reviewed Enzyme
P20933 BXGT008618 N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase 175 reviewed Enzyme
P21333 BXGT008638 Filamin-A 2316 reviewed
P21802 BXGT008691 Fibroblast growth factor receptor 2 2263 reviewed Kinase
P21964 BXGT008714 Catechol O-methyltransferase 1312 reviewed Enzyme
P22304 BXGT008752 Iduronate 2-sulfatase 3423 reviewed
P23415 BXGT008864 Glycine receptor subunit alpha-1 2741 reviewed Ion channel
P29536 BXGT009361 Leiomodin-1 25802 reviewed Cellular structure
P35475 BXGT009837 Alpha-L-iduronidase 3425 reviewed Enzyme
P35555 BXGT009845 Fibrillin-1 2200 reviewed Calcium-binding protein
P38398 BXGT010037 Breast cancer type 1 susceptibility protein 672 reviewed Enzyme
P42345 BXGT010304 Serine/threonine-protein kinase mTOR 2475 reviewed Kinase
P46100 BXGT010508 Transcriptional regulator ATRX 546 reviewed
P48167 BXGT010621 Glycine receptor subunit beta 2743 reviewed Ion channel
P48740 BXGT010659 Mannan-binding lectin serine protease 1 5648 reviewed Enzyme
P52952 BXGT010966 Homeobox protein Nkx-2.5 1482 reviewed Transcription factor
P53667 BXGT011008 LIM domain kinase 1 3984 reviewed Kinase
P54886 BXGT011092 Delta-1-pyrroline-5-carboxylate synthase 5832 reviewed Enzyme
P56524 BXGT011176 Histone deacetylase 4 9759 reviewed Epigenetic regulator
P57059 BXGT011210 Serine/threonine-protein kinase SIK1 150094 reviewed
P63000 BXGT011481 Ras-related C3 botulinum toxin substrate 1 5879 reviewed Enzyme modulator
P67775 BXGT011563 Serine/threonine-protein phosphatase 2A catalytic subunit alpha isoform 5515 reviewed
P84022 BXGT012027 Mothers against decapentaplegic homolog 3 4088 reviewed Transcription factor
P98160 BXGT012228 Basement membrane-specific heparan sulfate proteoglycan core protein 3339 reviewed Enzyme modulator
P98164 BXGT012230 Low-density lipoprotein receptor-related protein 2 4036 reviewed
Q01968 BXGT012626 Inositol polyphosphate 5-phosphatase OCRL-1 4952 reviewed Enzyme
Q01974 BXGT012628 Tyrosine-protein kinase transmembrane receptor ROR2 4920 reviewed Kinase
Q04721 BXGT012777 Neurogenic locus notch homolog protein 2 4853 reviewed
Q06609 BXGT012884 DNA repair protein RAD51 homolog 1 5888 reviewed
Q06710 BXGT012887 Paired box protein Pax-8 7849 reviewed
Q07954 BXGT012950 Prolow-density lipoprotein receptor-related protein 1 4035 reviewed
Q09470 BXGT013037 Potassium voltage-gated channel subfamily A member 1 3736 reviewed Ion channel
Q14332 BXGT013462 Frizzled-2 2535 reviewed G-protein coupled receptor
Q15223 BXGT013551 Nectin-1 5818 reviewed
Q15652 BXGT013587 Probable JmjC domain-containing histone demethylation protein 2C 221037 reviewed
Q15746 BXGT013591 Myosin light chain kinase, smooth muscle 4638 reviewed Kinase
Q15842 BXGT013607 ATP-sensitive inward rectifier potassium channel 8 3764 reviewed Ion channel
Q15910 BXGT013612 Histone-lysine N-methyltransferase EZH2 2146 reviewed Epigenetic regulator
Q2M1P5 BXGT014129 Kinesin-like protein KIF7 374654 reviewed
Q6NUK1 BXGT016429 Calcium-binding mitochondrial carrier protein SCaMC-1 29957 reviewed Transporter
Q6PCD5 BXGT016464 E3 ubiquitin-protein ligase RFWD3 55159 reviewed Enzyme
Q86YC2 BXGT017633 Partner and localizer of BRCA2 79728 reviewed
Q8IYD8 BXGT018367 Fanconi anemia group M protein 57697 reviewed Enzyme
Q8NCC3 BXGT018546 Group XV phospholipase A2 23659 reviewed Enzyme
Q8NFD5 BXGT018560 AT-rich interactive domain-containing protein 1B 57492 reviewed
Q96T60 BXGT019745 Bifunctional polynucleotide phosphatase/kinase 11284 reviewed
Q99250 BXGT019913 Sodium channel protein type 2 subunit alpha 6326 reviewed Ion channel
Q9BWP8 BXGT020153 Collectin-11 78989 reviewed Surfactant
Q9C0B1 BXGT020209 Alpha-ketoglutarate-dependent dioxygenase FTO 79068 reviewed
Q9H6X2 BXGT020486 Anthrax toxin receptor 1 84168 reviewed Receptor
Q9NPD8 BXGT021152 Ubiquitin-conjugating enzyme E2 T 29089 reviewed
Q9NPI8 BXGT021161 Fanconi anemia group F protein 2188 reviewed
Q9NQX3 BXGT021172 Gephyrin 10243 reviewed
Q9NR19 BXGT021175 Acetyl-coenzyme A synthetase, cytoplasmic 55902 reviewed Enzyme
Q9NW38 BXGT021230 E3 ubiquitin-protein ligase FANCL 55120 reviewed Enzyme
Q9UBC3 BXGT021650 DNA (cytosine-5)-methyltransferase 3B 1789 reviewed
Q9UI95 BXGT021714 Mitotic spindle assembly checkpoint protein MAD2B 10459 reviewed
Q9UM47 BXGT021772 Neurogenic locus notch homolog protein 3 4854 reviewed
Q9Y6K1 BXGT022331 DNA (cytosine-5)-methyltransferase 3A 1788 reviewed
Q9Y6K9 BXGT022333 NF-kappa-B essential modulator 8517 reviewed Kinase
Q92911 BXGT022650 Sodium/iodide cotransporter 6528 reviewed Transporter
Q96JJ3 BXGT024291 Engulfment and cell motility protein 2 63916 reviewed Signaling
Q13635 BXGT024910 Protein patched homolog 1 5727 reviewed
P35250 BXGT025854 Replication factor C subunit 2 5982 reviewed Enzyme
P09471 BXGT026153 Guanine nucleotide-binding protein G(o) subunit alpha 2775 reviewed Enzyme modulator
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