Showing entry for Filamin-A


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT008638
Protein NameFilamin-A
Uniport IdP21333
GeneFLNA
Gene Id2316
DomainCH; Filamin
Pfam PF00307   PF00630  
OrganismHomo sapiens (Human)
Target protein  affiliated  biological  pathways
KEGG
Class Subclass KEGG Id Pathway Name
3. Environmental Information Processing 3.2 Signal transduction hsa04010 MAPK signaling pathway
4. Cellular Processes 4.3 Cellular community - eukaryotes hsa04510 Focal adhesion
6. Human Diseases 6.8 Infectious diseases: Bacterial hsa05132 Salmonella infection
6. Human Diseases 6.1 Cancers: Overview hsa05205 Proteoglycans in cancer
Gene Ontology
GO Type GO Id Gene Ontology
Biological Process GO:0051764 actin crosslink formation
Biological Process GO:0031532 actin cytoskeleton reorganization
Biological Process GO:0007195 adenylate cyclase-inhibiting dopamine receptor signaling pathway
Biological Process GO:0034329 cell junction assembly
Biological Process GO:0021987 cerebral cortex development
Biological Process GO:0060271 cilium assembly
Biological Process GO:0051220 cytoplasmic sequestering of protein
Biological Process GO:0051607 defense response to virus
Biological Process GO:0045184 establishment of protein localization
Biological Process GO:0097368 establishment of Sertoli cell barrier
Biological Process GO:0021943 formation of radial glial scaffolds
Biological Process GO:0090307 mitotic spindle assembly
Biological Process GO:0042789 mRNA transcription by RNA polymerase II
Biological Process GO:0043066 negative regulation of apoptotic process
Biological Process GO:0043433 negative regulation of DNA-binding transcription factor activity
Biological Process GO:0042177 negative regulation of protein catabolic process
Biological Process GO:0016479 negative regulation of transcription by RNA polymerase I
Biological Process GO:0030168 platelet activation
Biological Process GO:0070527 platelet aggregation
Biological Process GO:0002576 platelet degranulation
Biological Process GO:0032233 positive regulation of actin filament bundle assembly
Biological Process GO:0043123 positive regulation of I-kappaB kinase/NF-kappaB signaling
Biological Process GO:2001046 positive regulation of integrin-mediated signaling pathway
Biological Process GO:2000179 positive regulation of neural precursor cell proliferation
Biological Process GO:2001224 positive regulation of neuron migration
Biological Process GO:1901381 positive regulation of potassium ion transmembrane transport
Biological Process GO:0042307 positive regulation of protein import into nucleus
Biological Process GO:1900026 positive regulation of substrate adhesion-dependent cell spreading
Biological Process GO:1902396 protein localization to bicellular tight junction
Biological Process GO:0034394 protein localization to cell surface
Biological Process GO:0072659 protein localization to plasma membrane
Biological Process GO:0050821 protein stabilization
Biological Process GO:0043113 receptor clustering
Biological Process GO:0030334 regulation of cell migration
Biological Process GO:1905000 regulation of membrane repolarization during atrial cardiac muscle cell action potential
Biological Process GO:1905031 regulation of membrane repolarization during cardiac muscle cell action potential
Biological Process GO:0071526 semaphorin-plexin signaling pathway
Biological Process GO:0090042 tubulin deacetylation
Biological Process GO:0044319 wound healing, spreading of cells
molecular function GO:0051015 actin filament binding
molecular function GO:0045296 cadherin binding
molecular function GO:0034988 Fc-gamma receptor I complex binding
molecular function GO:0001664 G protein-coupled receptor binding
molecular function GO:0051020 GTPase binding
molecular function GO:0044325 ion channel binding
molecular function GO:0019900 kinase binding
molecular function GO:0031852 mu-type opioid receptor binding
molecular function GO:0015459 potassium channel regulator activity
molecular function GO:0042803 protein homodimerization activity
molecular function GO:0048365 Rac GTPase binding
molecular function GO:0017160 Ral GTPase binding
molecular function GO:0017048 Rho GTPase binding
molecular function GO:0003723 RNA binding
molecular function GO:0046332 SMAD binding
molecular function GO:0031267 small GTPase binding
molecular function GO:0008134 transcription factor binding
cellular component GO:0015629 actin cytoskeleton
cellular component GO:0005884 actin filament
cellular component GO:0097440 apical dendrite
cellular component GO:0005911 cell-cell junction
cellular component GO:0030863 cortical cytoskeleton
cellular component GO:0005737 cytoplasm
cellular component GO:0005829 cytosol
cellular component GO:0043198 dendritic shaft
cellular component GO:0070062 extracellular exosome
cellular component GO:0005576 extracellular region
cellular component GO:0005925 focal adhesion
cellular component GO:0098978 glutamatergic synapse
cellular component GO:0030426 growth cone
cellular component GO:0016020 membrane
cellular component GO:0031523 Myb complex
cellular component GO:0005730 nucleolus
cellular component GO:0005634 nucleus
cellular component GO:0043204 perikaryon
cellular component GO:0048471 perinuclear region of cytoplasm
cellular component GO:0005886 plasma membrane
cellular component GO:0098794 postsynapse
cellular component GO:0030018 Z disc
Reactome
Pathway Id Pathway Name
R-HSA-109582 Hemostasis
R-HSA-114608 Platelet degranulation
R-HSA-1169410 Antiviral mechanism by IFN-stimulated genes
R-HSA-1280215 Cytokine Signaling in Immune system
R-HSA-1500931 Cell-Cell communication
R-HSA-162582 Signal Transduction
R-HSA-168256 Immune System
R-HSA-194315 Signaling by Rho GTPases
R-HSA-195258 RHO GTPase Effectors
R-HSA-430116 GP1b-IX-V activation signalling
R-HSA-446353 Cell-extracellular matrix interactions
R-HSA-446728 Cell junction organization
R-HSA-5627123 RHO GTPases activate PAKs
R-HSA-76002 Platelet activation, signaling and aggregation
R-HSA-76005 Response to elevated platelet cytosolic Ca2+
R-HSA-8983711 OAS antiviral response
R-HSA-913531 Interferon Signaling
Target protein-related  diseases
Disease
CUI Id BXGD Id Disease Name Disease Class
C0000731 BXGD000002 Abdomen distended Digestive System Diseases
C0000768 BXGD000007 Congenital Abnormality Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0000833 BXGD000014 Abscess Pathological Conditions, Signs and Symptoms; Infections
C0001206 BXGD000033 Acromegaly Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
C0001973 BXGD000095 Alcoholic Intoxication, Chronic Chemically-Induced Disorders; Mental Disorders
C0002395 BXGD000111 Alzheimer's Disease Nervous System Diseases; Mental Disorders
C0002878 BXGD000137 Anemia, Hemolytic Hemic and Lymphatic Diseases
C0003467 BXGD000194 Anxiety Behavior and Behavior Mechanisms
C0003469 BXGD000195 Anxiety Disorders Mental Disorders
C0003486 BXGD000197 Aortic Aneurysm Cardiovascular Diseases
C0003504 BXGD000202 Aortic Valve Insufficiency Cardiovascular Diseases
C0003706 BXGD000215 Arachnodactyly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0003850 BXGD000225 Arteriosclerosis Cardiovascular Diseases
C0003873 BXGD000236 Rheumatoid Arthritis Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases
C0004153 BXGD000260 Atherosclerosis Cardiovascular Diseases
C0004936 BXGD000295 Mental disorders Mental Disorders
C0004943 BXGD000297 Behcet Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases
C0005684 BXGD000319 Malignant neoplasm of urinary bladder Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0005695 BXGD000323 Bladder Neoplasm Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0005745 BXGD000331 Blepharoptosis Eye Diseases
C0005779 BXGD000336 Blood Coagulation Disorders Hemic and Lymphatic Diseases
C0005941 BXGD000353 Bone Diseases, Developmental Musculoskeletal Diseases
C0006012 BXGD000360 Borderline Personality Disorder Mental Disorders
C0006142 BXGD000374 Malignant neoplasm of breast Neoplasms; Skin and Connective Tissue Diseases
C0006277 BXGD000387 Bronchitis Infections; Respiratory Tract Diseases
C0006287 BXGD000390 Bronchopulmonary Dysplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases
C0006826 BXGD000408 Malignant Neoplasms Neoplasms
C0007103 BXGD000426 Malignant neoplasm of endometrium Neoplasms; Female Urogenital Diseases and Pregnancy Complications
C0007131 BXGD000441 Non-Small Cell Lung Carcinoma Neoplasms; Respiratory Tract Diseases
C0007134 BXGD000443 Renal Cell Carcinoma Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0007222 BXGD000454 Cardiovascular Diseases Cardiovascular Diseases
C0007766 BXGD000478 Intracranial Aneurysm Nervous System Diseases; Cardiovascular Diseases
C0008925 BXGD000575 Cleft Palate Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
C0009081 BXGD000581 Congenital clubfoot Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0009086 BXGD000583 Cluster B personality disorder Mental Disorders
C0009402 BXGD000605 Colorectal Carcinoma Digestive System Diseases; Neoplasms
C0009782 BXGD000631 Connective Tissue Diseases Skin and Connective Tissue Diseases
C0009806 BXGD000633 Constipation Pathological Conditions, Signs and Symptoms
C0010054 BXGD000647 Coronary Arteriosclerosis Cardiovascular Diseases
C0010068 BXGD000648 Coronary heart disease Cardiovascular Diseases
C0010278 BXGD000660 Craniosynostosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0010417 BXGD000670 Cryptorchidism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases
C0010674 BXGD000683 Cystic Fibrosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
C0010701 BXGD000688 Phyllodes Tumor Neoplasms
C0010823 BXGD000690 Cytomegalovirus Infections Infections
C0010964 BXGD000692 Dandy-Walker Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0011570 BXGD000729 Mental Depression Behavior and Behavior Mechanisms
C0011581 BXGD000733 Depressive disorder Mental Disorders
C0011603 BXGD000734 Dermatitis Skin and Connective Tissue Diseases
C0011847 BXGD000749 Diabetes Endocrine System Diseases
C0011849 BXGD000751 Diabetes Mellitus Nutritional and Metabolic Diseases; Endocrine System Diseases
C0011860 BXGD000755 Diabetes Mellitus, Non-Insulin-Dependent Nutritional and Metabolic Diseases; Endocrine System Diseases
C0013080 BXGD000797 Down Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0013274 BXGD000809 Patent ductus arteriosus Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0013336 BXGD000815 Dwarfism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
C0013366 BXGD000820 Dyschondroplasias Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0013720 BXGD000861 Ehlers-Danlos Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
C0014065 BXGD000884 Congenital cerebral hernia Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0014544 BXGD000926 Epilepsy Nervous System Diseases
C0015300 BXGD000973 Exophthalmos Eye Diseases
C0015544 BXGD001003 Failure to Thrive Pathological Conditions, Signs and Symptoms
C0015674 BXGD001012 Chronic Fatigue Syndrome Infections; Musculoskeletal Diseases; Nervous System Diseases
C0015967 BXGD001030 Fever Pathological Conditions, Signs and Symptoms
C0016045 BXGD001037 fibroma Neoplasms
C0016052 BXGD001040 Fibromuscular Dysplasia Cardiovascular Diseases
C0016057 BXGD001042 Fibrosarcoma Neoplasms
C0016202 BXGD001050 Flatfoot Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0016514 BXGD001066 Foot-and-Mouth Disease Infections; Animal Diseases
C0016842 BXGD001083 Congenital pectus excavatum Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0017168 BXGD001101 Gastroesophageal reflux disease Digestive System Diseases
C0018213 BXGD001187 Graves Disease Eye Diseases; Immune System Diseases; Endocrine System Diseases
C0018621 BXGD001210 Hay fever Respiratory Tract Diseases; Immune System Diseases; Otorhinolaryngologic Diseases
C0018681 BXGD001214 Headache Pathological Conditions, Signs and Symptoms
C0018777 BXGD001217 Conductive hearing loss Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C0018784 BXGD001220 Sensorineural Hearing Loss (disorder) Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C0018801 BXGD001226 Heart failure Cardiovascular Diseases
C0018802 BXGD001227 Congestive heart failure Cardiovascular Diseases
C0018816 BXGD001234 Heart Septal Defects Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0018824 BXGD001237 Heart valve disease Cardiovascular Diseases
C0019045 BXGD001269 Hemoglobinopathies Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
C0019159 BXGD001294 Hepatitis A Digestive System Diseases; Infections
C0019163 BXGD001295 Hepatitis B Digestive System Diseases; Infections
C0019196 BXGD001301 Hepatitis C Digestive System Diseases; Infections
C0019270 BXGD001311 Hernia Pathological Conditions, Signs and Symptoms
C0019294 BXGD001314 Hernia, Inguinal Pathological Conditions, Signs and Symptoms
C0019572 BXGD001338 Hirsutism Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
C0019693 BXGD001346 HIV Infections Infections; Immune System Diseases
C0019825 BXGD001349 Hoarseness Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
C0019829 BXGD001350 Hodgkin Disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C0020179 BXGD001363 Huntington Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
C0020255 BXGD001369 Hydrocephalus Nervous System Diseases
C0020295 BXGD001372 Hydronephrosis Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0020302 BXGD001373 Hydrophthalmos Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0020443 BXGD001385 Hypercholesterolemia Nutritional and Metabolic Diseases
C0020452 BXGD001389 Hyperemia Cardiovascular Diseases
C0020492 BXGD001404 Hyperostosis Musculoskeletal Diseases
C0020534 BXGD001421 Orbital separation excessive Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0020538 BXGD001422 Hypertensive disease Cardiovascular Diseases
C0020608 BXGD001443 Hypodontia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
C0020635 BXGD001455 Hypopituitarism Nervous System Diseases; Endocrine System Diseases
C0020678 BXGD001463 Hypotrichosis Skin and Connective Tissue Diseases
C0021125 BXGD001483 Impulsive Behavior Behavior and Behavior Mechanisms
C0021847 BXGD001523 Intestinal Pseudo-Obstruction Digestive System Diseases
C0022548 BXGD001551 Keloid Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
C0022650 BXGD001568 Kidney Calculi Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0023343 BXGD001635 Leprosy Infections
C0023348 BXGD001636 Leprosy, Lepromatous Infections
C0023465 BXGD001656 Acute monocytic leukemia Neoplasms
C0023467 BXGD001658 Leukemia, Myelocytic, Acute Neoplasms
C0023479 BXGD001663 Acute myelomonocytic leukemia Neoplasms
C0023787 BXGD001698 Lipodystrophy Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
C0023893 BXGD001716 Liver Cirrhosis, Experimental Pathological Conditions, Signs and Symptoms; Digestive System Diseases
C0023895 BXGD001717 Liver diseases Digestive System Diseases
C0024115 BXGD001732 Lung diseases Respiratory Tract Diseases
C0024117 BXGD001734 Chronic Obstructive Airway Disease Respiratory Tract Diseases
C0024523 BXGD001781 Malabsorption Syndrome Digestive System Diseases; Nutritional and Metabolic Diseases
C0024591 BXGD001789 Malignant hyperpyrexia due to anesthesia Pathological Conditions, Signs and Symptoms
C0024623 BXGD001791 Malignant neoplasm of stomach Digestive System Diseases; Neoplasms
C0024636 BXGD001793 Malocclusion Stomatognathic Diseases
C0024790 BXGD001804 Paroxysmal nocturnal hemoglobinuria Hemic and Lymphatic Diseases
C0025202 BXGD001832 melanoma Neoplasms
C0025237 BXGD001841 Melnick-Needles Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0025312 BXGD001861 Meningomyelocele Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0025362 BXGD001866 Mental Retardation Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0025517 BXGD001875 Metabolic Diseases Nutritional and Metabolic Diseases
C0025958 BXGD001882 Microcephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0025990 BXGD001884 Micrognathism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
C0025995 BXGD001885 Micromelia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0026034 BXGD001887 Microstomia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
C0026106 BXGD001889 Mild Mental Retardation Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0026266 BXGD001895 Mitral Valve Insufficiency Cardiovascular Diseases
C0026267 BXGD001896 Mitral Valve Prolapse Syndrome Cardiovascular Diseases
C0026760 BXGD001927 Multiple Epiphyseal Dysplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0026769 BXGD001930 Multiple Sclerosis Immune System Diseases; Nervous System Diseases
C0026848 BXGD001941 Myopathy Musculoskeletal Diseases; Nervous System Diseases
C0027051 BXGD001963 Myocardial Infarction Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0027443 BXGD001992 Natal Teeth
C0027627 BXGD002006 Neoplasm Metastasis Pathological Conditions, Signs and Symptoms; Neoplasms
C0027651 BXGD002009 Neoplasms Neoplasms
C0027765 BXGD002033 nervous system disorder Nervous System Diseases
C0028754 BXGD002082 Obesity Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
C0029422 BXGD002142 Osteochondrodysplasias Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0029458 BXGD002158 Osteoporosis, Postmenopausal Nutritional and Metabolic Diseases; Musculoskeletal Diseases
C0029464 BXGD002161 Osteosclerosis Musculoskeletal Diseases
C0030521 BXGD002235 Parathyroid Neoplasms Neoplasms; Endocrine System Diseases
C0031030 BXGD002272 Periapical Periodontitis Stomatognathic Diseases
C0031900 BXGD002313 Pierre Robin Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
C0032460 BXGD002355 Polycystic Ovary Syndrome Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
C0033375 BXGD002405 Prolactinoma Neoplasms; Nervous System Diseases; Endocrine System Diseases
C0033377 BXGD002406 Ptosis Pathological Conditions, Signs and Symptoms
C0033578 BXGD002408 Prostatic Neoplasms Neoplasms; Male Urogenital Diseases
C0034067 BXGD002456 Pulmonary Emphysema Respiratory Tract Diseases
C0034072 BXGD002459 Cor pulmonale Cardiovascular Diseases
C0034194 BXGD002472 Pyloric Stenosis Digestive System Diseases
C0035067 BXGD002504 Renal Artery Stenosis Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases
C0035204 BXGD002511 Respiration Disorders Respiratory Tract Diseases
C0035229 BXGD002516 Respiratory Insufficiency Respiratory Tract Diseases
C0035242 BXGD002521 Respiratory Tract Diseases Respiratory Tract Diseases
C0036391 BXGD002608 Schwartz-Jampel Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0036439 BXGD002615 Scoliosis, unspecified Musculoskeletal Diseases
C0036572 BXGD002625 Seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0036690 BXGD002632 Septicemia Pathological Conditions, Signs and Symptoms; Infections
C0037284 BXGD002679 Skin lesion Skin and Connective Tissue Diseases
C0037769 BXGD002701 West Syndrome Nervous System Diseases
C0038015 BXGD002726 Spondyloepiphyseal Dysplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0038018 BXGD002729 Spondylolysis Musculoskeletal Diseases
C0038379 BXGD002752 Strabismus Eye Diseases; Nervous System Diseases
C0038450 BXGD002759 Stridor Pathological Conditions, Signs and Symptoms
C0038454 BXGD002760 Cerebrovascular accident Nervous System Diseases; Cardiovascular Diseases
C0039075 BXGD002788 Syndactyly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0039144 BXGD002796 Syringomyelia Nervous System Diseases
C0039147 BXGD002797 Syrinx formation
C0040034 BXGD002836 Thrombocytopenia Hemic and Lymphatic Diseases
C0040427 BXGD002864 Tooth Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
C0040583 BXGD002878 Tracheal Stenosis Respiratory Tract Diseases
C0040822 BXGD002885 Tremor Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0040961 BXGD002891 Tricuspid Valve Insufficiency Cardiovascular Diseases
C0040962 BXGD002892 Tricuspid Valve Prolapse Cardiovascular Diseases
C0041341 BXGD002918 Tuberous Sclerosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
C0041466 BXGD002925 Typhoid Fever Infections
C0041956 BXGD002942 Ureteral obstruction Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0041974 BXGD002945 Urethral Stenosis Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0042373 BXGD002978 Vascular Diseases Cardiovascular Diseases
C0042580 BXGD002992 Vesico-Ureteral Reflux Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0042693 BXGD002996 Violence
C0042749 BXGD002998 Viremia Pathological Conditions, Signs and Symptoms; Infections
C0042963 BXGD003018 Vomiting Pathological Conditions, Signs and Symptoms
C0043194 BXGD003036 Wiskott-Aldrich Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
C0085612 BXGD003204 Ventricular arrhythmia Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0086237 BXGD003273 Epilepsy, Cryptogenic Nervous System Diseases
C0086437 BXGD003282 Joint laxity Musculoskeletal Diseases
C0086543 BXGD003294 Cataract Eye Diseases
C0149630 BXGD003334 Bicuspid aortic valve Cardiovascular Diseases
C0149931 BXGD003388 Migraine Disorders Nervous System Diseases
C0152013 BXGD003516 Adenocarcinoma of lung (disorder) Neoplasms
C0152021 BXGD003520 Congenital heart disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0152421 BXGD003586 Macrotia
C0153392 BXGD003630 Malignant neoplasm of nasopharynx Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases
C0162298 BXGD003933 Joint stiffness Musculoskeletal Diseases
C0162871 BXGD003996 Aortic Aneurysm, Abdominal Cardiovascular Diseases
C0162872 BXGD003997 Aortic Aneurysm, Thoracic Cardiovascular Diseases
C0175713 BXGD004014 Aicardi's syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
C0178874 BXGD004037 Tumor Progression Pathological Conditions, Signs and Symptoms
C0206062 BXGD004148 Lung Diseases, Interstitial Respiratory Tract Diseases
C0206650 BXGD004214 Fibroadenoma Neoplasms
C0206701 BXGD004251 Cystadenocarcinoma, Serous Neoplasms
C0206754 BXGD004289 Neuroendocrine Tumors Neoplasms
C0220769 BXGD004343 FG syndrome Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nervous System Diseases
C0221210 BXGD004406 Congenital malrotation of intestine Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
C0221260 BXGD004424 Dystrophia unguium Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
C0221354 BXGD004446 Frontal bossing Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0221357 BXGD004449 Brachydactyly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0231451 BXGD004493 Hyperextension
C0231679 BXGD004507 Ulnar deviation of the fingers
C0233514 BXGD004584 Abnormal behavior Behavior and Behavior Mechanisms
C0234935 BXGD004701 Acute urticaria Skin and Connective Tissue Diseases; Immune System Diseases
C0235833 BXGD004775 Congenital diaphragmatic hernia Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0235974 BXGD004796 Pancreatic carcinoma Digestive System Diseases; Neoplasms; Endocrine System Diseases
C0236018 BXGD004804 Aura Nervous System Diseases
C0236075 BXGD004810 Menopausal symptom
C0238288 BXGD004905 Muscular Dystrophy, Facioscapulohumeral Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0238301 BXGD004909 Cancer of Nasopharynx Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases
C0238441 BXGD004932 Subglottic stenosis Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
C0239137 BXGD004965 Coxa valga Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
C0239174 BXGD004969 Late tooth eruption
C0239234 BXGD004974 Low set ears
C0239998 BXGD005012 Recurrent infections Pathological Conditions, Signs and Symptoms; Infections; Musculoskeletal Diseases
C0240063 BXGD005015 Coloboma of iris Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0240414 BXGD005035 Hypoplasia of muscle
C0240635 BXGD005047 Byzanthine arch palate Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases
C0240912 BXGD005062 Vertical Talus Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0240953 BXGD005067 Winged scapula
C0241074 BXGD005078 Hyperextensible skin
C0241654 BXGD005104 Abnormal heart valve morphology Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0242339 BXGD005150 Dyslipidemias Nutritional and Metabolic Diseases
C0242350 BXGD005154 Erectile dysfunction Male Urogenital Diseases; Mental Disorders
C0242379 BXGD005157 Malignant neoplasm of lung Neoplasms; Respiratory Tract Diseases
C0243026 BXGD005210 Sepsis Pathological Conditions, Signs and Symptoms; Infections
C0262436 BXGD005243 Cardiac valvular dysplasia, X-linked Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Cardiovascular Diseases
C0262587 BXGD005259 Parathyroid Adenoma Neoplasms; Endocrine System Diseases
C0265251 BXGD005482 Oto-Palato-digital syndrome type 1 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0265293 BXGD005505 Frontometaphyseal dysplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0265563 BXGD005550 Congenital dislocation of radial head Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0265609 BXGD005554 Accessory carpal bones Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0265654 BXGD005559 Tarsal Coalition Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0265660 BXGD005561 Syndactyly of the toes Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0265783 BXGD005575 Congenital hypoplasia of lung Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases
C0265962 BXGD005590 Ichthyosis linearis circumflexa Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
C0266050 BXGD005613 Failure of exfoliation of primary tooth
C0266111 BXGD005620 Bifid tongue Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0266464 BXGD005676 Polymicrogyria Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0266470 BXGD005678 Cerebellar Hypoplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
C0266491 BXGD005683 Neuronal heterotopia Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0266551 BXGD005693 Congenital coloboma of iris Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0266617 BXGD005700 Congenital anomaly of face Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases
C0267048 BXGD005728 Glossoptosis Stomatognathic Diseases
C0268225 BXGD005857 Aspartylglucosaminuria Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C0268341 BXGD005903 Ehlers-Danlos syndrome type 5 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
C0275524 BXGD006376 Coinfection Infections
C0277828 BXGD006480 Late fontanel closure
C0277959 BXGD006487 Coarse hair
C0278595 BXGD006545 Adult Fibrosarcoma Neoplasms
C0278864 BXGD006604 Growth Hormone-Producing Pituitary Gland Neoplasm Neoplasms; Nervous System Diseases; Endocrine System Diseases
C0279627 BXGD006658 Adult Acute Myelomonocytic Leukemia Neoplasms
C0279644 BXGD006668 Childhood Acute Myelomonocytic Leukemia Neoplasms
C0279702 BXGD006685 Conventional (Clear Cell) Renal Cell Carcinoma Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0280324 BXGD006740 Laryngeal Squamous Cell Carcinoma Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
C0302142 BXGD006831 Deformity Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0338106 BXGD007167 Adenocarcinoma of colon Digestive System Diseases; Neoplasms
C0338503 BXGD007193 Septo-Optic Dysplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0338656 BXGD007211 Impaired cognition Mental Disorders
C0339467 BXGD007248 Proliferative retinopathy Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases
C0340364 BXGD007324 Familial mitral valve prolapse Cardiovascular Diseases
C0340543 BXGD007344 Familial primary pulmonary hypertension Respiratory Tract Diseases
C0344315 BXGD007666 Depressed mood Behavior and Behavior Mechanisms
C0344559 BXGD007695 Irido-corneo-trabecular dysgenesis (disorder) Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0345354 BXGD007728 Radial polydactyly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0345392 BXGD007732 Congenital kyphoscoliosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0346647 BXGD007832 Malignant neoplasm of pancreas Digestive System Diseases; Neoplasms; Endocrine System Diseases
C0349588 BXGD007933 Short stature
C0376358 BXGD007992 Malignant neoplasm of prostate Neoplasms; Male Urogenital Diseases
C0392171 BXGD008033 Influenza-like symptoms
C0392525 BXGD008052 Nephrolithiasis Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0399352 BXGD008236 Developmental absence of tooth Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
C0409338 BXGD008381 Flexion contracture - elbow
C0409345 BXGD008382 Flexion contracture - wrist
C0409348 BXGD008384 Flexion contracture of proximal interphalangeal joint
C0410000 BXGD008406 Overlap syndrome Skin and Connective Tissue Diseases; Immune System Diseases
C0410189 BXGD008413 Muscular Dystrophy, Emery-Dreifuss Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0410528 BXGD008430 Skeletal dysplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0423110 BXGD008471 Downward slant of palpebral fissure
C0423113 BXGD008473 Telecanthus Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0423757 BXGD008504 Thin skin
C0423798 BXGD008510 Increased tendency to bruise Wounds and Injuries
C0424295 BXGD008524 Hyperactive behavior Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0424503 BXGD008532 Dysmorphic facies
C0426789 BXGD008576 Short thorax
C0426790 BXGD008577 Narrow thorax
C0426799 BXGD008578 Congenital hypoplasia of clavicle Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0426807 BXGD008581 Short clavicle
C0426817 BXGD008585 Short ribs
C0426891 BXGD008595 Broad thumbs
C0431378 BXGD008679 Nodular heterotopia Nervous System Diseases
C0431478 BXGD008692 Posteriorly rotated ear
C0431890 BXGD008712 Hypoplasia of thumb Musculoskeletal Diseases
C0431904 BXGD008713 Ulnar polydactyly of fingers Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0432272 BXGD008761 Van Buchem disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0454644 BXGD008850 Delayed speech and language development Behavior and Behavior Mechanisms
C0456132 BXGD008869 Large fontanelle
C0472817 BXGD008928 WHIM syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Skin and Connective Tissue Diseases; Immune System Diseases
C0476089 BXGD008977 Endometrial Carcinoma Neoplasms; Female Urogenital Diseases and Pregnancy Complications
C0476254 BXGD008984 Dyslexia Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders
C0494165 BXGD009022 Secondary malignant neoplasm of liver Digestive System Diseases; Neoplasms
C0520947 BXGD009126 Clumsiness - motor delay Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0521618 BXGD009148 Stenosis of ureter Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0521620 BXGD009150 Dilatation of ureter Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0521719 BXGD009167 Clouding of corneal stroma Eye Diseases; Skin and Connective Tissue Diseases
C0521839 BXGD009183 Influenza-like illness Infections
C0524620 BXGD009236 Metabolic Syndrome X Nutritional and Metabolic Diseases
C0541794 BXGD009262 Skeletal muscle atrophy
C0543888 BXGD009300 Epileptic encephalopathy Nervous System Diseases
C0545053 BXGD009323 Advanced bone age
C0553694 BXGD009409 Oropharyngeal disorders Digestive System Diseases; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases
C0557874 BXGD009444 Global developmental delay
C0575081 BXGD009512 Gait abnormality Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0575158 BXGD009515 Kyphoscoliosis deformity of spine Musculoskeletal Diseases
C0576093 BXGD009525 Knee joint valgus deformity Musculoskeletal Diseases
C0576225 BXGD009526 Long foot Musculoskeletal Diseases
C0595939 BXGD009629 Stillbirth Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications
C0596263 BXGD009639 Carcinogenesis Pathological Conditions, Signs and Symptoms; Neoplasms
C0600033 BXGD009682 Acquired Kyphoscoliosis Musculoskeletal Diseases
C0600066 BXGD009686 Malignant Cystosarcoma Phyllodes Neoplasms
C0600139 BXGD009695 Prostate carcinoma Neoplasms; Male Urogenital Diseases
C0600260 BXGD009701 Lung Diseases, Obstructive Respiratory Tract Diseases
C0678222 BXGD009749 Breast Carcinoma Neoplasms; Skin and Connective Tissue Diseases
C0678230 BXGD009750 Congenital Epicanthus
C0684249 BXGD009790 Carcinoma of lung Neoplasms; Respiratory Tract Diseases
C0686377 BXGD009834 CNS metastases Neoplasms; Nervous System Diseases
C0686619 BXGD009835 Secondary malignant neoplasm of lymph node Pathological Conditions, Signs and Symptoms; Neoplasms
C0699791 BXGD009867 Stomach Carcinoma Digestive System Diseases; Neoplasms
C0699885 BXGD009869 Carcinoma of bladder Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0741916 BXGD010044 Cardiac defects
C0747085 BXGD010158 Recurrent otitis media Otorhinolaryngologic Diseases
C0750929 BXGD010256 Arnold-Chiari Malformation, Type I Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0750992 BXGD010278 Catatonia, Malignant Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
C0751111 BXGD010319 Awakening Epilepsy Nervous System Diseases
C0751495 BXGD010473 Seizures, Focal Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0795690 BXGD010728 Congenital omphalocele Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0848558 BXGD010882 Hypospadias Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0850826 BXGD010911 Localized skin lesion
C0852949 BXGD010957 Arteriopathic disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0856169 BXGD011096 Endothelial dysfunction
C0857379 BXGD011148 Abnormality of the pinna
C0857516 BXGD011153 Floppy
C0878659 BXGD011380 Disproportionate short stature Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
C0917801 BXGD011412 Sleeplessness Nervous System Diseases; Mental Disorders
C0917990 BXGD011424 Acro-Osteolysis Musculoskeletal Diseases
C0919267 BXGD011426 ovarian neoplasm Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
C1096367 BXGD011618 Increased mean platelet volume
C1112705 BXGD011681 Nuclear non-senile cataract Eye Diseases
C1140680 BXGD011718 Malignant neoplasm of ovary Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
C1142533 BXGD011758 Smooth philtrum
C1145670 BXGD011764 Respiratory Failure Respiratory Tract Diseases
C1185616 BXGD011801 Hair whorls
C1257931 BXGD011815 Mammary Neoplasms, Human Neoplasms; Skin and Connective Tissue Diseases
C1260926 BXGD011844 Abnormal pigmentation
C1262477 BXGD011882 Weight decreased Pathological Conditions, Signs and Symptoms
C1263988 BXGD011905 Hemolytic disorder Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases
C1269955 BXGD012005 Tumor Cell Invasion
C1280433 BXGD012125 Lipoatrophy Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
C1285162 BXGD012167 Degenerative disorder Pathological Conditions, Signs and Symptoms
C1297882 BXGD012244 Partial Trisomy Pathological Conditions, Signs and Symptoms
C1302790 BXGD012313 Congenital malformation syndrome Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C1306459 BXGD012361 Primary malignant neoplasm Neoplasms
C1306460 BXGD012362 Primary malignant neoplasm of lung Neoplasms; Respiratory Tract Diseases
C1306503 BXGD012363 Congenital exomphalos Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C1306710 BXGD012372 Facial asymmetry Pathological Conditions, Signs and Symptoms
C1319315 BXGD012415 Adenocarcinoma of large intestine Digestive System Diseases; Neoplasms
C1328504 BXGD012469 Hormone refractory prostate cancer Neoplasms; Male Urogenital Diseases
C1384666 BXGD012948 hearing impairment Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C1389016 BXGD012962 ATRIOVENTRICULAR CANAL DEFECT Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C1397307 BXGD012996 Cardiac fibrosis
C1446712 BXGD013083 Overlapping fingers
C1458140 BXGD013134 Bleeding tendency Hemic and Lymphatic Diseases
C1458155 BXGD013136 Mammary Neoplasms Neoplasms; Skin and Connective Tissue Diseases
C1611743 BXGD013456 Familial (FPAH)
C1704436 BXGD013564 Peripheral Arterial Diseases Cardiovascular Diseases
C1739395 BXGD013739 Takotsubo Cardiomyopathy Cardiovascular Diseases
C1832117 BXGD013798 Short humerus
C1834405 BXGD013970 Nail dysplasia Pathological Conditions, Signs and Symptoms
C1835574 BXGD014036 Bipartite calcaneus
C1836186 BXGD014089 Fibular aplasia
C1836193 BXGD014093 Synostosis of carpal bones
C1836195 BXGD014094 Short toe
C1836542 BXGD014129 Depressed nasal bridge
C1837081 BXGD014193 Tibial bowing Musculoskeletal Diseases
C1837084 BXGD014195 Short metacarpal
C1837249 BXGD014210 Malformations of Cortical Development, Group II Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C1837260 BXGD014214 Prominent forehead
C1839163 BXGD014360 THROMBOCYTOPENIA 1 (disorder) Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
C1839326 BXGD014367 Abnormal form of the vertebral bodies
C1839507 BXGD014379 Thick skull base
C1839512 BXGD014380 Limited knee flexion
C1839783 BXGD014407 Large forehead
C1839816 BXGD014411 Long neck
C1839822 BXGD014412 Anterior concavity of thoracic vertebrae
C1839829 BXGD014413 Short distal phalanx of finger
C1839830 BXGD014414 Frontal hirsutism
C1839965 BXGD014426 Multiple impacted teeth Stomatognathic Diseases
C1840069 BXGD014433 Sandal gap
C1840309 BXGD014444 Short 4th metacarpal
C1842060 BXGD014491 Prominent supraorbital ridges
C1842083 BXGD014494 Abnormality of the ribs
C1843108 BXGD014556 Short palm
C1844505 BXGD014633 Pointed chin
C1844508 BXGD014634 Large foramen magnum
C1844509 BXGD014635 Antegonial notching of mandible
C1844512 BXGD014636 Anteriorly placed odontoid process
C1844516 BXGD014637 Increased density of long bone diaphyses
C1844519 BXGD014638 Partial fusion of carpals
C1844520 BXGD014639 Partial fusion of tarsals Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C1844696 BXGD014663 OTOPALATODIGITAL SYNDROME, TYPE II Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C1844702 BXGD014664 Vertical clivus
C1844704 BXGD014665 Platyspondyly
C1844706 BXGD014666 Rudimentary fibula
C1844709 BXGD014667 Radial deviation of the 2nd finger
C1844712 BXGD014668 Nonossified fifth metatarsal
C1845235 BXGD014728 Heterotopia, Periventricular, Ehlers-Danlos Variant Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C1845546 BXGD014752 FG SYNDROME 4 (disorder) Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nervous System Diseases
C1845567 BXGD014753 FG SYNDROME 3 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nervous System Diseases
C1845847 BXGD014760 Coarse facial features Pathological Conditions, Signs and Symptoms
C1845902 BXGD014767 FG SYNDROME 2 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nervous System Diseases
C1845977 BXGD014769 X- linked recessive
C1846129 BXGD014782 Terminal Osseous Dysplasia and Pigmentary Defects Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
C1846434 BXGD014814 Hypoplastic scapulae
C1847879 BXGD014895 X-linked dominant inheritance
C1848199 BXGD014912 X-Linked Lissencephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C1848213 BXGD014917 Periventricular Heterotopia, X-Linked Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C1849020 BXGD014996 Short metatarsal
C1849089 BXGD015004 Broad forehead
C1849367 BXGD015046 Nasal bridge wide
C1850135 BXGD015112 Flared metaphysis
C1850631 BXGD015163 Short 3rd metacarpal
C1851714 BXGD015228 Sclerosis of skull base Musculoskeletal Diseases
C1852504 BXGD015287 Misalignment of teeth
C1853241 BXGD015321 Flat face
C1853242 BXGD015322 Midface retrusion
C1853737 BXGD015356 Prominent occiput
C1854114 BXGD015383 Short nose
C1854301 BXGD015391 Motor delay Mental Disorders
C1855285 BXGD015483 Protruding ear
C1855340 BXGD015490 Bowing of the long bones
C1855538 BXGD015507 Small face
C1855669 BXGD015525 Absent frontal sinuses
C1855733 BXGD015537 Neuronal intestinal pseudoobstruction Digestive System Diseases; Nervous System Diseases
C1856639 BXGD015623 Absent/hypoplastic paranasal sinuses
C1856780 BXGD015644 Posterior vertebral hypoplasia
C1857002 BXGD015665 Capitate-hamate fusion
C1857101 BXGD015676 Anisospondyly
C1857108 BXGD015677 Limitation of joint mobility
C1858085 BXGD015770 Malar flattening
C1858091 BXGD015771 Long fingers
C1858452 BXGD015796 Thickened calvaria
C1859399 BXGD015886 Radial bowing
C1859461 BXGD015895 Femoral bowing Musculoskeletal Diseases
C1859480 BXGD015899 Cone-shaped epiphyses of the phalanges of the hand
C1859680 BXGD015917 Broad face
C1859682 BXGD015918 Hypoplastic frontal sinuses
C1859717 BXGD015924 Depressed nasal tip
C1859778 BXGD015931 Postnatal growth retardation
C1861218 BXGD016021 Hypoplastic ilia
C1861388 BXGD016044 Short 5th metacarpal
C1862136 BXGD016106 Abnormality of the tarsal bones Musculoskeletal Diseases
C1862313 BXGD016121 Short distal phalanx of the thumb
C1862839 BXGD016137 Anterior segment mesenchymal dysgenesis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C1863402 BXGD016174 Broad distal phalanx of the thumb
C1865572 BXGD016331 Proximal placement of thumb
C1865841 BXGD016343 Flared iliac wings
C1865847 BXGD016344 Ulnar bowing
C1865992 BXGD016359 Short hallux
C1866134 BXGD016378 Wide anterior fontanel
C1866231 BXGD016388 Full cheeks
C1866737 BXGD016421 Lateral femoral bowing
C1867103 BXGD016438 Limited elbow extension
C1867131 BXGD016440 Broad hallux
C1868085 BXGD016486 Craniofacial hyperostosis
C1868720 BXGD016531 Periventricular Nodular Heterotopia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C1956346 BXGD016627 Coronary Artery Disease Cardiovascular Diseases
C1961121 BXGD016675 Congenital vascular anomaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C1963165 BXGD016685 Malabsorption, CTCAE
C1970308 BXGD016833 Selective tooth agenesis
C2239176 BXGD016965 Liver carcinoma Digestive System Diseases; Neoplasms
C2239253 BXGD016969 Sinus of Valsalva aneurysm
C2267233 BXGD017017 Neonatal Hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C2674608 BXGD017250 Feeding difficulties in infancy
C2746068 BXGD017574 Congenital idiopathic intestinal pseudoobstruction Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
C2748918 BXGD017610 Otopalatodigital Spectrum Disorder Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C2751260 BXGD017694 Macrothrombocytopenia Hemic and Lymphatic Diseases
C2919142 BXGD017867 Short Stature, CTCAE
C2931822 BXGD018068 Nasopharyngeal carcinoma Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases
C2939419 BXGD018178 Secondary Neoplasm Pathological Conditions, Signs and Symptoms; Neoplasms
C2939465 BXGD018182 Deficiency of glucose-6-phosphate dehydrogenase Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
C2973725 BXGD018205 Pulmonary arterial hypertension Respiratory Tract Diseases; Cardiovascular Diseases
C2981140 BXGD018209 Glaucoma of childhood Eye Diseases
C3160889 BXGD018491 Node-negative breast cancer
C3160906 BXGD018496 Subependymal nodular heterotopia
C3203102 BXGD018555 Idiopathic pulmonary arterial hypertension Respiratory Tract Diseases
C3266262 BXGD018600 Multiple Chronic Conditions Pathological Conditions, Signs and Symptoms
C3279947 BXGD018789 NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9
C3539878 BXGD019087 Triple Negative Breast Neoplasms Neoplasms; Skin and Connective Tissue Diseases
C3541456 BXGD019096 Spondyloepiphyseal Dysplasia Tarda, X-Linked Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C3553764 BXGD019187 Joint hyperflexibility
C3697248 BXGD019355 Short lower third of face
C3714506 BXGD019407 Meckel syndrome type 1 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
C3714514 BXGD019409 Infection Infections
C3714745 BXGD019427 Malabsorption Digestive System Diseases
C3714756 BXGD019429 Intellectual Disability Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C3806482 BXGD019514 Recurrent respiratory infections Infections; Respiratory Tract Diseases
C3839184 BXGD019770 Low grade serous carcinoma
C3839280 BXGD019772 High grade serous carcinoma
C3840083 BXGD019793 Late closure of anterior fontanel
C3854222 BXGD019826 Human immunodeficiency virus (HIV) II infection category B1
C3854333 BXGD019828 Narrowing
C3875321 BXGD019874 Inflammatory dermatosis Skin and Connective Tissue Diseases
C3887527 BXGD019894 Fused cervical vertebrae
C3887590 BXGD019900 Stricture of ureter Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C4021189 BXGD020576 Underdeveloped superior crus of antihelix
C4021241 BXGD020591 Abnormal foot bone ossification Musculoskeletal Diseases
C4021244 BXGD020594 Abnormal hand bone ossification Musculoskeletal Diseases
C4021253 BXGD020598 Undulate clavicles
C4021260 BXGD020602 Long metacarpals
C4021335 BXGD020610 Short distal phalanx of hallux
C4021391 BXGD020623 Broad phalanges of the hand
C4021640 BXGD020713 Intestinal hypoplasia
C4021738 BXGD020746 Abnormality of the pubic bone
C4021741 BXGD020749 Abnormal cortical bone morphology
C4021768 BXGD020766 Abnormality of metabolism/homeostasis
C4021770 BXGD020767 Clinodactyly of toe
C4021774 BXGD020770 Camptodactyly of toe
C4021785 BXGD020778 Abnormality of the metacarpal bones Musculoskeletal Diseases
C4022002 BXGD020864 Thoracoabdominal wall defect
C4023288 BXGD021151 Short chordae tendineae of the mitral valve
C4024202 BXGD021303 Reduced number of teeth
C4024733 BXGD021393 Abnormality of the fifth metatarsal bone
C4025001 BXGD021520 Short chordae tendineae of the tricuspid valve
C4025010 BXGD021525 Coat hanger sign of ribs
C4025086 BXGD021549 Irregular metacarpals
C4025087 BXGD021550 Long phalanx of finger
C4025167 BXGD021573 Abnormal vertebral segmentation and fusion
C4025747 BXGD021772 Bulbous tips of toes
C4025814 BXGD021806 Abnormality of the metaphysis
C4025881 BXGD021842 Abnormal oral frenulum morphology
C4038738 BXGD021858 Steep mandibular plane angle
C4048270 BXGD021897 Decreased antibody level in blood
C4049796 BXGD021951 Abnormality of cardiovascular system morphology Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C4082304 BXGD022090 Oligodontia
C4280644 BXGD022381 Increased size of the mandible
C4281559 BXGD022411 FRONTOMETAPHYSEAL DYSPLASIA 1 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C4511035 BXGD022995 Isolated thrombocytopenia
C4521042 BXGD023055 Complete Trisomy 21 Syndrome Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C4551479 BXGD023309 Schwartz-Jampel Syndrome, Type 1 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C4551649 BXGD023382 Congenital Dysplasia Of The Hip Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C4551675 BXGD023384 Keratoderma, Palmoplantar Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
C4551915 BXGD023441 Gait Disturbance, CTCAE
C4551969 BXGD023456 Bilateral Periventricular Nodular Heterotopia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C4704874 BXGD023682 Mammary Carcinoma, Human Neoplasms; Skin and Connective Tissue Diseases
C4707243 BXGD023712 Familial thoracic aortic aneurysm and aortic dissection
C4721438 BXGD023741 Mitral valve dysplasia Cardiovascular Diseases
C4721610 BXGD023760 Carcinoma, Ovarian Epithelial Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
C4722085 BXGD023788 Malignant neoplasm of colon and/or rectum
C4722518 BXGD023806 Triple-Negative Breast Carcinoma Neoplasms; Skin and Connective Tissue Diseases
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0000436 Glycerol 92.09
BXGC0000989 Glutathione 307.32
BXGC0042315 1,4-dioxane 88.05
BXGC0049447 acetate 59.01
BXGC0051100 dihydroartemisinin 284.16
The  target protein-related  foods
Foods
BXGF Id Food Name Scientific Name Food Group Number of compound? Number of compound in food, higher numbers indicate the food are more associated with the protein