Showing entry for X- linked recessive


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD014769
Disease NameX- linked recessive
Disease CUI IdC1845977
MeSH Codes   
Disease Class Name
Semantic TypeFinding
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
O00571 BXGT003938 ATP-dependent RNA helicase DDX3X 1654 reviewed
O14936 BXGT004114 Peripheral plasma membrane protein CASK 8573 reviewed Kinase
O15239 BXGT004139 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 1 4694 reviewed
O15247 BXGT004142 Chloride intracellular channel protein 2 1193 reviewed Ion channel
O15294 BXGT004147 UDP-N-acetylglucosamine--peptide N-acetylglucosaminyltransferase 110 kDa subunit 8473 reviewed
O60840 BXGT004901 Voltage-dependent L-type calcium channel subunit alpha-1F 778 reviewed Ion channel
O75914 BXGT005165 Serine/threonine-protein kinase PAK 3 5063 reviewed Kinase
O95237 BXGT005361 Lecithin retinol acyltransferase 9227 reviewed
O95831 BXGT005399 Apoptosis-inducing factor 1, mitochondrial 9131 reviewed Enzyme
P00451 BXGT005545 Coagulation factor VIII 2157 reviewed Enzyme
P00480 BXGT005551 Ornithine carbamoyltransferase, mitochondrial 5009 reviewed
P00492 BXGT005556 Hypoxanthine-guanine phosphoribosyltransferase 3251 reviewed Enzyme
P00558 BXGT005579 Phosphoglycerate kinase 1 5230 reviewed Kinase
P00740 BXGT005634 Coagulation factor IX 2158 reviewed Enzyme
P04839 BXGT006273 Cytochrome b-245 heavy chain 1536 reviewed Ion channel
P06280 BXGT006433 Alpha-galactosidase A 2717 reviewed
P08034 BXGT006716 Gap junction beta-1 protein 2705 reviewed Cell-cell junction
P08842 BXGT006830 Steryl-sulfatase 412 reviewed Enzyme
P09884 BXGT006937 DNA polymerase alpha catalytic subunit 5422 reviewed
P10275 BXGT007552 Androgen receptor 367 reviewed Nuclear receptor
P10745 BXGT007608 Retinol-binding protein 3 5949 reviewed
P11413 BXGT007701 Glucose-6-phosphate 1-dehydrogenase 2539 reviewed Enzyme
P21333 BXGT008638 Filamin-A 2316 reviewed
P21397 BXGT008644 Amine oxidase [flavin-containing] A 4128 reviewed
P21675 BXGT008678 Transcription initiation factor TFIID subunit 1 6872 reviewed Kinase
P22304 BXGT008752 Iduronate 2-sulfatase 3423 reviewed
P22314 BXGT008755 Ubiquitin-like modifier-activating enzyme 1 7317 reviewed Enzyme
P22557 BXGT008783 5-aminolevulinate synthase, erythroid-specific, mitochondrial 212 reviewed Enzyme
P27635 BXGT009194 60S ribosomal protein L10 6134 reviewed Nucleic acid binding
P29033 BXGT009308 Gap junction beta-2 protein 2706 reviewed Cell-cell junction
P29965 BXGT009388 CD40 ligand 959 reviewed Signaling
P29973 BXGT009389 cGMP-gated cation channel alpha-1 1259 reviewed Ion channel
P30518 BXGT009428 Vasopressin V2 receptor 554 reviewed G-protein coupled receptor
P31785 BXGT009577 Cytokine receptor common subunit gamma 3561 reviewed Signaling
P32004 BXGT009594 Neural cell adhesion molecule L1 3897 reviewed
P41227 BXGT010238 N-alpha-acetyltransferase 10 8260 reviewed Enzyme
P41229 BXGT010239 Lysine-specific demethylase 5C 8242 reviewed
P42263 BXGT010295 Glutamate receptor 3 2892 reviewed Ion channel
P46019 BXGT010498 Phosphorylase b kinase regulatory subunit alpha, liver isoform 5256 reviewed Kinase
P46020 BXGT010499 Phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform 5255 reviewed Kinase
P46100 BXGT010508 Transcriptional regulator ATRX 546 reviewed
P48029 BXGT010606 Sodium- and chloride-dependent creatine transporter 1 6535 reviewed Transporter
P51572 BXGT010859 B-cell receptor-associated protein 31 10134 reviewed Transporter
P51795 BXGT010891 H(+)/Cl(-) exchange transporter 5 1184 reviewed Ion channel
P51843 BXGT010897 Nuclear receptor subfamily 0 group B member 1 190 reviewed Nuclear receptor
P52788 BXGT010953 Spermine synthase 6611 reviewed
P60891 BXGT011337 Ribose-phosphate pyrophosphokinase 1 5631 reviewed Kinase
P98170 BXGT012231 E3 ubiquitin-protein ligase XIAP 331 reviewed Enzyme modulator
Q00604 BXGT012538 Norrin 4693 reviewed
Q01968 BXGT012626 Inositol polyphosphate 5-phosphatase OCRL-1 4952 reviewed Enzyme
Q06187 BXGT012860 Tyrosine-protein kinase BTK 695 reviewed Kinase
Q14683 BXGT013500 Structural maintenance of chromosomes protein 1A 8243 reviewed
Q15125 BXGT013543 3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase 10682 reviewed Enzyme
Q15233 BXGT013552 Non-POU domain-containing octamer-binding protein 4841 reviewed Nucleic acid binding
Q8IWS0 BXGT018356 PHD finger protein 6 84295 reviewed Nucleic acid binding
Q92796 BXGT019376 Disks large homolog 3 1741 reviewed
Q92834 BXGT019381 X-linked retinitis pigmentosa GTPase regulator 6103 reviewed
Q9BZS1 BXGT020203 Forkhead box protein P3 50943 reviewed
Q9H0F7 BXGT020435 ADP-ribosylation factor-like protein 6 84100 reviewed
Q9NVH6 BXGT021224 Trimethyllysine dioxygenase, mitochondrial 55217 reviewed
Q9NZN1 BXGT021279 Interleukin-1 receptor accessory protein-like 1 11141 reviewed Receptor
Q9NZN9 BXGT021280 Aryl-hydrocarbon-interacting protein-like 1 23746 reviewed Chaperone
Q9UPP1 BXGT021800 Histone lysine demethylase PHF8 23133 reviewed
Q9Y6K9 BXGT022333 NF-kappa-B essential modulator 8517 reviewed Kinase
Q14657 BXGT024111 EKC/KEOPS complex subunit LAGE3 8270 reviewed
Q8NB49 BXGT024770 Phospholipid-transporting ATPase IG 286410 reviewed Transporter
P51608 BXGT025073 Methyl-CpG-binding protein 2 4204 reviewed Epigenetic regulator
P27918 BXGT025485 Properdin 5199 reviewed
Q96DA2 BXGT025522 Ras-related protein Rab-39B 116442 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