Showing entry for Ambiguous Genitalia


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD005657
Disease NameAmbiguous Genitalia
Disease CUI IdC0266362
MeSH Codes C16   C13   C12   C19  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
Semantic TypeCongenital Abnormality
Human Phenotype Ontology Id HP:0000119  
Human Phenotype Ontology TermAbnormality 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
O43175 BXGT004575 D-3-phosphoglycerate dehydrogenase 26227 reviewed Enzyme
O43683 BXGT004614 Mitotic checkpoint serine/threonine-protein kinase BUB1 699 reviewed Kinase
O60566 BXGT004884 Mitotic checkpoint serine/threonine-protein kinase BUB1 beta 701 reviewed Kinase
P00167 BXGT005473 Cytochrome b5 1528 reviewed Enzyme
P01189 BXGT005742 Pro-opiomelanocortin 5443 reviewed
P04150 BXGT006154 Glucocorticoid receptor 2908 reviewed Nuclear receptor
P04278 BXGT006182 Sex hormone-binding globulin 6462 reviewed
P05093 BXGT006313 Steroid 17-alpha-hydroxylase/17,20 lyase 1586 reviewed
P08686 BXGT006813 Steroid 21-hydroxylase 1589 reviewed
P10070 BXGT007534 Zinc finger protein GLI2 2736 reviewed
P10275 BXGT007552 Androgen receptor 367 reviewed Nuclear receptor
P11362 BXGT007693 Fibroblast growth factor receptor 1 2260 reviewed Kinase
P11511 BXGT007717 Aromatase 1588 reviewed Enzyme
P14060 BXGT007978 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 1 3283 reviewed Enzyme
P15538 BXGT008137 Cytochrome P450 11B1, mitochondrial 1584 reviewed
P16435 BXGT008226 NADPH--cytochrome P450 reductase 5447 reviewed
P17516 BXGT008313 Aldo-keto reductase family 1 member C4 1109 reviewed Enzyme
P19544 BXGT008494 Wilms tumor protein 7490 reviewed Nucleic acid binding
P20813 BXGT008603 Cytochrome P450 2B6 1555 reviewed
P21802 BXGT008691 Fibroblast growth factor receptor 2 2263 reviewed Kinase
P23560 BXGT008883 Brain-derived neurotrophic factor 627 reviewed Signaling
P31213 BXGT009515 3-oxo-5-alpha-steroid 4-dehydrogenase 2 6716 reviewed Enzyme
P37058 BXGT009956 Testosterone 17-beta-dehydrogenase 3 3293 reviewed
P42330 BXGT010301 Aldo-keto reductase family 1 member C3 8644 reviewed Enzyme
P46100 BXGT010508 Transcriptional regulator ATRX 546 reviewed
P51843 BXGT010897 Nuclear receptor subfamily 0 group B member 1 190 reviewed Nuclear receptor
P52209 BXGT010923 6-phosphogluconate dehydrogenase, decarboxylating 5226 reviewed Enzyme
P52799 BXGT010956 Ephrin-B2 1948 reviewed Signaling
P52895 BXGT010961 Aldo-keto reductase family 1 member C2 1646 reviewed Enzyme
P55265 BXGT011117 Double-stranded RNA-specific adenosine deaminase 103 reviewed Enzyme
P56937 BXGT011205 3-keto-steroid reductase 51478 reviewed
Q04828 BXGT012787 Aldo-keto reductase family 1 member C1 1645 reviewed Enzyme
Q13233 BXGT013330 Mitogen-activated protein kinase kinase kinase 1 4214 reviewed Kinase
Q13285 BXGT013335 Steroidogenic factor 1 2516 reviewed Nuclear receptor
Q14332 BXGT013462 Frizzled-2 2535 reviewed G-protein coupled receptor
Q14839 BXGT013509 Chromodomain-helicase-DNA-binding protein 4 1108 reviewed
Q15392 BXGT013566 Delta(24)-sterol reductase 1718 reviewed Enzyme
Q15465 BXGT013573 Sonic hedgehog protein 6469 reviewed
Q16698 BXGT013659 2,4-dienoyl-CoA reductase, mitochondrial 1666 reviewed Enzyme
Q16874 BXGT013685 Cytochrome P450 21-hydroxylase 1589 unreviewed
Q4KMG0 BXGT014850 Cell adhesion molecule-related/down-regulated by oncogenes 50937 reviewed
Q6UWP2 BXGT016567 Dehydrogenase/reductase SDR family member 11 79154 reviewed Enzyme
Q8NCM8 BXGT018548 Cytoplasmic dynein 2 heavy chain 1 79659 reviewed Enzyme
Q96PY6 BXGT019712 Serine/threonine-protein kinase Nek1 4750 reviewed Kinase
Q9NX14 BXGT021242 NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 11, mitochondrial 54539 reviewed Enzyme
Q9UBM7 BXGT021657 7-dehydrocholesterol reductase 1717 reviewed Enzyme
Q9UMX1 BXGT021778 Suppressor of fused homolog 51684 reviewed
Q9UPZ9 BXGT021804 Serine/threonine-protein kinase ICK 22858 reviewed Kinase
Q9Y617 BXGT022314 Phosphoserine aminotransferase 29968 reviewed
Q15583 BXGT024027 Homeobox protein TGIF1 7050 reviewed Enzyme
Q13635 BXGT024910 Protein patched homolog 1 5727 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