Showing entry for Triphalangeal thumb



                               
General Disease Information
BXGD IdBXGD005095
Disease NameTriphalangeal thumb
Disease CUI IdC0241397
MeSH Codes C16   C05  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Semantic TypeCongenital Abnormality
Human Phenotype Ontology Id HP:0040064   HP:0000924  
Human Phenotype Ontology TermAbnormality of limbs; Abnormality of the skeletal system
Disease Ontology Id DOID:630   DOID:7   DOID:0080015  
Disease Ontology Class Namegenetic disease; disease 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
P01375 BXGT005753 Tumor necrosis factor 7124 reviewed Signaling
P01584 BXGT005772 Interleukin-1 beta 3553 reviewed
P10070 BXGT007534 Zinc finger protein GLI2 2736 reviewed
P21802 BXGT008691 Fibroblast growth factor receptor 2 2263 reviewed Kinase
P22607 BXGT008784 Fibroblast growth factor receptor 3 2261 reviewed Kinase
P38398 BXGT010037 Breast cancer type 1 susceptibility protein 672 reviewed Enzyme
P39019 BXGT010082 40S ribosomal protein S19 6223 reviewed Nucleic acid binding
Q06609 BXGT012884 DNA repair protein RAD51 homolog 1 5888 reviewed
Q15465 BXGT013573 Sonic hedgehog protein 6469 reviewed
Q2M1P5 BXGT014129 Kinesin-like protein KIF7 374654 reviewed
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
Q99593 BXGT019939 T-box transcription factor TBX5 6910 reviewed Transcription factor
Q9NPD8 BXGT021152 Ubiquitin-conjugating enzyme E2 T 29089 reviewed
Q9NPI8 BXGT021161 Fanconi anemia group F protein 2188 reviewed
Q9NW38 BXGT021230 E3 ubiquitin-protein ligase FANCL 55120 reviewed Enzyme
Q9UI95 BXGT021714 Mitotic spindle assembly checkpoint protein MAD2B 10459 reviewed
Q9UMX1 BXGT021778 Suppressor of fused homolog 51684 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