Showing entry for Familial Hypophosphatemic Rickets


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD019078
Disease NameFamilial Hypophosphatemic Rickets
Disease CUI IdC3536983
MeSH Codes C16   C18   C13   C05   C12  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases
Semantic TypeDisease or Syndrome
Human Phenotype Ontology Id   
Human Phenotype Ontology Term
Disease Ontology Id DOID:630   DOID:7  
Disease Ontology Class Namegenetic disease; disease of anatomical entity
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
A0A024RAV5 BXGT000013 V-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog, isoform CRA_b 3845 unreviewed
P01111 BXGT005731 GTPase NRas 4893 reviewed Enzyme modulator
P01112 BXGT005732 GTPase HRas 3265 reviewed Enzyme modulator
P01116 BXGT005733 GTPase KRas 3845 reviewed Enzyme modulator
P01270 BXGT005746 Parathyroid hormone 5741 reviewed
P01375 BXGT005753 Tumor necrosis factor 7124 reviewed Signaling
P01579 BXGT005770 Interferon gamma 3458 reviewed
P02818 BXGT005969 Osteocalcin 632 reviewed
P10275 BXGT007552 Androgen receptor 367 reviewed Nuclear receptor
P11168 BXGT007663 Solute carrier family 2, facilitated glucose transporter member 2 6514 reviewed Transporter
P11473 BXGT007709 Vitamin D3 receptor 7421 reviewed Nuclear receptor
P15941 BXGT008176 Mucin-1 4582 reviewed
P17643 BXGT008323 5,6-dihydroxyindole-2-carboxylic acid oxidase 7306 reviewed Enzyme
P22413 BXGT008764 Ectonucleotide pyrophosphatase/phosphodiesterase family member 1 5167 reviewed Enzyme
P30518 BXGT009428 Vasopressin V2 receptor 554 reviewed G-protein coupled receptor
P32004 BXGT009594 Neural cell adhesion molecule L1 3897 reviewed
P36955 BXGT009946 Pigment epithelium-derived factor 5176 reviewed Enzyme modulator
P51795 BXGT010891 H(+)/Cl(-) exchange transporter 5 1184 reviewed Ion channel
P60709 BXGT011322 Actin, cytoplasmic 1 60 reviewed Cellular structure
P63092 BXGT011495 Guanine nucleotide-binding protein G(s) subunit alpha isoforms short 2778 reviewed
Q07973 BXGT012952 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial 1591 reviewed Enzyme
Q96BR1 BXGT019627 Serine/threonine-protein kinase Sgk3 23678 reviewed
Q16552 BXGT023419 Interleukin-17A 3605 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