Showing entry for Holoprosencephaly



                               
General Disease Information
BXGD IdBXGD003081
Disease NameHoloprosencephaly
Disease CUI IdC0079541
MeSH Codes C16   C05   C10  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
Semantic TypeCongenital Abnormality
Human Phenotype Ontology Id HP:0000707  
Human Phenotype Ontology TermAbnormality of the nervous system
Disease Ontology Id DOID:630   DOID:7   DOID:225   DOID:0080015  
Disease Ontology Class Namegenetic disease; disease of anatomical entity; syndrome; 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
A5YKK6 BXGT001378 CCR4-NOT transcription complex subunit 1 23019 reviewed Transcription factor
O00522 BXGT003935 Krev interaction trapped protein 1 889 reviewed
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
O94907 BXGT005340 Dickkopf-related protein 1 22943 reviewed
P00441 BXGT005540 Superoxide dismutase [Cu-Zn] 6647 reviewed Enzyme
P01189 BXGT005742 Pro-opiomelanocortin 5443 reviewed
P04040 BXGT006132 Catalase 847 reviewed Enzyme
P05181 BXGT006337 Cytochrome P450 2E1 1571 reviewed
P0DP23 BXGT007520 Calmodulin-1 808 reviewed
P0DP24 BXGT007521 Calmodulin-2 808 reviewed
P10070 BXGT007534 Zinc finger protein GLI2 2736 reviewed
P11362 BXGT007693 Fibroblast growth factor receptor 1 2260 reviewed Kinase
P22607 BXGT008784 Fibroblast growth factor receptor 3 2261 reviewed Kinase
P32004 BXGT009594 Neural cell adhesion molecule L1 3897 reviewed
P48449 BXGT010632 Lanosterol synthase 4047 reviewed
P49841 BXGT010750 Glycogen synthase kinase-3 beta 2932 reviewed Kinase
P60763 BXGT011327 Ras-related C3 botulinum toxin substrate 3 5881 reviewed Enzyme modulator
P98164 BXGT012230 Low-density lipoprotein receptor-related protein 2 4036 reviewed
Q14683 BXGT013500 Structural maintenance of chromosomes protein 1A 8243 reviewed
Q15465 BXGT013573 Sonic hedgehog protein 6469 reviewed
Q15796 BXGT013599 Mothers against decapentaplegic homolog 2 4087 reviewed Transcription factor
Q4KMG0 BXGT014850 Cell adhesion molecule-related/down-regulated by oncogenes 50937 reviewed
Q8WZA1 BXGT019024 Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 55624 reviewed
Q9UBM7 BXGT021657 7-dehydrocholesterol reductase 1717 reviewed Enzyme
Q9UHD8 BXGT021698 Septin-9 10801 reviewed Enzyme modulator
Q9UMX1 BXGT021778 Suppressor of fused homolog 51684 reviewed
Q9UPZ9 BXGT021804 Serine/threonine-protein kinase ICK 22858 reviewed Kinase
Q9Y5W5 BXGT022303 Wnt inhibitory factor 1 11197 reviewed Calcium-binding protein
Q7Z624 BXGT022792 Calmodulin-lysine N-methyltransferase 79823 reviewed
Q15583 BXGT024027 Homeobox protein TGIF1 7050 reviewed Enzyme
P0DP25 BXGT024595 Calmodulin-3 808 reviewed
Q9H9S5 BXGT024623 Fukutin-related protein 79147 reviewed
Q13635 BXGT024910 Protein patched homolog 1 5727 reviewed
Q9UKB1 BXGT025928 F-box/WD repeat-containing protein 11 23291 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