Showing entry for Neurofibromin


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT008640
Protein NameNeurofibromin
Uniport IdP21359
GeneNF1
Gene Id4763
DomainCRAL_TRIO_2; RasGAP
Pfam PF13716   PF00616  
OrganismHomo sapiens (Human)
Target protein  affiliated  biological  pathways
KEGG
Class Subclass KEGG Id Pathway Name
6. Human Diseases 6.12 Drug resistance: Antineoplastic hsa01521 EGFR tyrosine kinase inhibitor resistance
3. Environmental Information Processing 3.2 Signal transduction hsa04010 MAPK signaling pathway
3. Environmental Information Processing 3.2 Signal transduction hsa04014 Ras signaling pathway
Gene Ontology
GO Type GO Id Gene Ontology
Biological Process GO:0030036 actin cytoskeleton organization
Biological Process GO:0030325 adrenal gland development
Biological Process GO:0021764 amygdala development
Biological Process GO:0048844 artery morphogenesis
Biological Process GO:0007420 brain development
Biological Process GO:0048593 camera-type eye morphogenesis
Biological Process GO:0007154 cell communication
Biological Process GO:0034605 cellular response to heat
Biological Process GO:0021987 cerebral cortex development
Biological Process GO:0050890 cognition
Biological Process GO:0030199 collagen fibril organization
Biological Process GO:0030198 extracellular matrix organization
Biological Process GO:0008625 extrinsic apoptotic signaling pathway via death domain receptors
Biological Process GO:0021897 forebrain astrocyte development
Biological Process GO:0048853 forebrain morphogenesis
Biological Process GO:0061534 gamma-aminobutyric acid secretion, neurotransmission
Biological Process GO:0061535 glutamate secretion, neurotransmission
Biological Process GO:0048820 hair follicle maturation
Biological Process GO:0007507 heart development
Biological Process GO:0001889 liver development
Biological Process GO:0000165 MAPK cascade
Biological Process GO:0001656 metanephros development
Biological Process GO:0022011 myelination in peripheral nervous system
Biological Process GO:0016525 negative regulation of angiogenesis
Biological Process GO:0048712 negative regulation of astrocyte differentiation
Biological Process GO:0001953 negative regulation of cell-matrix adhesion
Biological Process GO:0030336 negative regulation of cell migration
Biological Process GO:0001937 negative regulation of endothelial cell proliferation
Biological Process GO:0048147 negative regulation of fibroblast proliferation
Biological Process GO:0043409 negative regulation of MAPK cascade
Biological Process GO:0043407 negative regulation of MAP kinase activity
Biological Process GO:0007406 negative regulation of neuroblast proliferation
Biological Process GO:0046929 negative regulation of neurotransmitter secretion
Biological Process GO:0048715 negative regulation of oligodendrocyte differentiation
Biological Process GO:0045671 negative regulation of osteoclast differentiation
Biological Process GO:0042308 negative regulation of protein import into nucleus
Biological Process GO:0006469 negative regulation of protein kinase activity
Biological Process GO:0035021 negative regulation of Rac protein signal transduction
Biological Process GO:0021915 neural tube development
Biological Process GO:0098597 observational learning
Biological Process GO:0001649 osteoblast differentiation
Biological Process GO:0007422 peripheral nervous system development
Biological Process GO:0014065 phosphatidylinositol 3-kinase signaling
Biological Process GO:0043473 pigmentation
Biological Process GO:0045762 positive regulation of adenylate cyclase activity
Biological Process GO:0043065 positive regulation of apoptotic process
Biological Process GO:0001938 positive regulation of endothelial cell proliferation
Biological Process GO:2001241 positive regulation of extrinsic apoptotic signaling pathway in absence of ligand
Biological Process GO:0043547 positive regulation of GTPase activity
Biological Process GO:0043525 positive regulation of neuron apoptotic process
Biological Process GO:0007265 Ras protein signal transduction
Biological Process GO:0045765 regulation of angiogenesis
Biological Process GO:0043535 regulation of blood vessel endothelial cell migration
Biological Process GO:0045124 regulation of bone resorption
Biological Process GO:0001952 regulation of cell-matrix adhesion
Biological Process GO:0010468 regulation of gene expression
Biological Process GO:0045685 regulation of glial cell differentiation
Biological Process GO:0043087 regulation of GTPase activity
Biological Process GO:0048169 regulation of long-term neuronal synaptic plasticity
Biological Process GO:1900271 regulation of long-term synaptic potentiation
Biological Process GO:0032228 regulation of synaptic transmission, GABAergic
Biological Process GO:0001666 response to hypoxia
Biological Process GO:0014044 Schwann cell development
Biological Process GO:0007519 skeletal muscle tissue development
Biological Process GO:0048745 smooth muscle tissue development
Biological Process GO:0021510 spinal cord development
Biological Process GO:0048485 sympathetic nervous system development
Biological Process GO:0008542 visual learning
Biological Process GO:0042060 wound healing
molecular function GO:0005096 GTPase activator activity
molecular function GO:0031210 phosphatidylcholine binding
molecular function GO:0008429 phosphatidylethanolamine binding
cellular component GO:0030424 axon
cellular component GO:0005737 cytoplasm
cellular component GO:0005829 cytosol
cellular component GO:0030425 dendrite
cellular component GO:0016020 membrane
cellular component GO:0005730 nucleolus
cellular component GO:0005634 nucleus
cellular component GO:0098793 presynapse
Reactome
Pathway Id Pathway Name
R-HSA-1280215 Cytokine Signaling in Immune system
R-HSA-162582 Signal Transduction
R-HSA-1643685 Disease
R-HSA-168256 Immune System
R-HSA-5658442 Regulation of RAS by GAPs
R-HSA-5663202 Diseases of signal transduction by growth factor receptors and second messengers
R-HSA-5673001 RAF/MAP kinase cascade
R-HSA-5683057 MAPK family signaling cascades
R-HSA-5684996 MAPK1/MAPK3 signaling
R-HSA-6802953 RAS signaling downstream of NF1 loss-of-function variants
R-HSA-6802957 Oncogenic MAPK signaling
R-HSA-9607240 FLT3 Signaling
Target protein-related  diseases
Disease
CUI Id BXGD Id Disease Name Disease Class
C0000768 BXGD000007 Congenital Abnormality Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0000772 BXGD000009 Multiple congenital anomalies Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0001430 BXGD000054 Adenoma Neoplasms
C0001618 BXGD000063 Tumors of Adrenal Cortex Neoplasms; Endocrine System Diseases
C0001624 BXGD000067 Adrenal Gland Neoplasms Neoplasms; Endocrine System Diseases
C0001973 BXGD000095 Alcoholic Intoxication, Chronic Chemically-Induced Disorders; Mental Disorders
C0002170 BXGD000105 Alopecia Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
C0002793 BXGD000130 Anaplasia Pathological Conditions, Signs and Symptoms; Neoplasms
C0002940 BXGD000156 Aneurysm Cardiovascular Diseases
C0003850 BXGD000225 Arteriosclerosis Cardiovascular Diseases
C0003855 BXGD000227 Arteriovenous fistula Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0004114 BXGD000255 Astrocytoma Neoplasms
C0004153 BXGD000260 Atherosclerosis Cardiovascular Diseases
C0004352 BXGD000269 Autistic Disorder Mental Disorders
C0004779 BXGD000291 Basal Cell Nevus Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases
C0005745 BXGD000331 Blepharoptosis Eye Diseases
C0005890 BXGD000345 Body Height
C0005941 BXGD000353 Bone Diseases, Developmental Musculoskeletal Diseases
C0006118 BXGD000372 Brain Neoplasms Neoplasms; Nervous System Diseases
C0006142 BXGD000374 Malignant neoplasm of breast Neoplasms; Skin and Connective Tissue Diseases
C0006826 BXGD000408 Malignant Neoplasms Neoplasms
C0007095 BXGD000423 Carcinoid Tumor Neoplasms
C0007097 BXGD000424 Carcinoma Neoplasms
C0007102 BXGD000425 Malignant tumor of colon Digestive System Diseases; Neoplasms
C0007137 BXGD000445 Squamous cell carcinoma Neoplasms
C0007194 BXGD000452 Hypertrophic Cardiomyopathy Cardiovascular Diseases
C0007222 BXGD000454 Cardiovascular Diseases Cardiovascular Diseases
C0007766 BXGD000478 Intracranial Aneurysm Nervous System Diseases; Cardiovascular Diseases
C0007787 BXGD000487 Transient Ischemic Attack Nervous System Diseases; Cardiovascular Diseases
C0008073 BXGD000518 Developmental Disabilities Mental Disorders
C0009241 BXGD000595 Cognition Disorders Mental Disorders
C0009402 BXGD000605 Colorectal Carcinoma Digestive System Diseases; Neoplasms
C0009404 BXGD000606 Colorectal Neoplasms Digestive System Diseases; Neoplasms
C0010346 BXGD000664 Crohn Disease Digestive System Diseases
C0010417 BXGD000670 Cryptorchidism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases
C0011168 BXGD000700 Deglutition Disorders Digestive System Diseases; Otorhinolaryngologic Diseases
C0011265 BXGD000708 Presenile dementia Nervous System Diseases; Mental Disorders
C0011351 BXGD000717 Dental Enamel Hypoplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
C0011884 BXGD000762 Diabetic Retinopathy Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases
C0013336 BXGD000815 Dwarfism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
C0013592 BXGD000857 Ectropion Eye Diseases
C0014474 BXGD000917 Ependymoma Neoplasms
C0016057 BXGD001042 Fibrosarcoma Neoplasms
C0016169 BXGD001048 pathologic fistula Pathological Conditions, Signs and Symptoms
C0016522 BXGD001067 Foramen Ovale, Patent Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0016667 BXGD001072 Fragile X Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0016689 BXGD001073 Freckles Skin and Connective Tissue Diseases
C0016842 BXGD001083 Congenital pectus excavatum Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0017601 BXGD001125 Glaucoma Eye Diseases
C0017636 BXGD001131 Glioblastoma Neoplasms
C0017638 BXGD001132 Glioma Neoplasms
C0017653 BXGD001135 Glomus Tumor Neoplasms
C0018681 BXGD001214 Headache Pathological Conditions, Signs and Symptoms
C0018799 BXGD001224 Heart Diseases Cardiovascular Diseases
C0019294 BXGD001314 Hernia, Inguinal Pathological Conditions, Signs and Symptoms
C0019562 BXGD001336 Von Hippel-Lindau Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
C0020255 BXGD001369 Hydrocephalus Nervous System Diseases
C0020534 BXGD001421 Orbital separation excessive Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0020538 BXGD001422 Hypertensive disease Cardiovascular Diseases
C0020557 BXGD001432 Hypertriglyceridemia Nutritional and Metabolic Diseases
C0020796 BXGD001468 Profound Mental Retardation Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0021670 BXGD001509 insulinoma Digestive System Diseases; Neoplasms; Endocrine System Diseases
C0022665 BXGD001573 Kidney Neoplasm Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0023186 BXGD001613 Learning Disorders Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders
C0023264 BXGD001625 Leigh Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C0023418 BXGD001642 leukemia Neoplasms
C0023465 BXGD001656 Acute monocytic leukemia Neoplasms
C0023467 BXGD001658 Leukemia, Myelocytic, Acute Neoplasms
C0023473 BXGD001661 Myeloid Leukemia, Chronic Neoplasms; Hemic and Lymphatic Diseases
C0023480 BXGD001664 Leukemia, Myelomonocytic, Chronic Neoplasms; Hemic and Lymphatic Diseases
C0023827 BXGD001707 liposarcoma Neoplasms
C0024131 BXGD001736 Lupus Vulgaris Infections; Skin and Connective Tissue Diseases
C0024138 BXGD001738 Lupus Erythematosus, Discoid Skin and Connective Tissue Diseases
C0024141 BXGD001740 Lupus Erythematosus, Systemic Skin and Connective Tissue Diseases; Immune System Diseases
C0024299 BXGD001758 Lymphoma Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C0024623 BXGD001791 Malignant neoplasm of stomach Digestive System Diseases; Neoplasms
C0024796 BXGD001806 Marfan Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
C0025202 BXGD001832 melanoma Neoplasms
C0025268 BXGD001846 Multiple Endocrine Neoplasia Type 2a Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases
C0025286 BXGD001850 Meningioma Neoplasms; 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
C0025363 BXGD001867 Mental Retardation, Psychosocial Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
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
C0026106 BXGD001889 Mild Mental Retardation Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0026499 BXGD001905 Monosomy Pathological Conditions, Signs and Symptoms
C0026654 BXGD001914 Moyamoya Disease Nervous System Diseases; Cardiovascular Diseases
C0026827 BXGD001936 Muscle hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0026998 BXGD001959 Acute Myeloid Leukemia, M1 Neoplasms
C0027022 BXGD001962 Myeloproliferative disease Hemic and Lymphatic Diseases
C0027651 BXGD002009 Neoplasms Neoplasms
C0027662 BXGD002015 Multiple Endocrine Neoplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases
C0027672 BXGD002020 Neoplastic Syndromes, Hereditary Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
C0027766 BXGD002034 Nervous System Neoplasms Neoplasms; Nervous System Diseases
C0027809 BXGD002040 Neurilemmoma Neoplasms
C0027819 BXGD002043 Neuroblastoma Neoplasms
C0027830 BXGD002046 neurofibroma Neoplasms; Nervous System Diseases
C0027831 BXGD002047 Neurofibromatosis 1 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
C0027832 BXGD002048 Neurofibromatosis 2 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases
C0027859 BXGD002052 Acoustic Neuroma Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases
C0027962 BXGD002064 Melanocytic nevus Neoplasms
C0028326 BXGD002075 Noonan Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
C0029410 BXGD002138 Osteoarthritis of hip Musculoskeletal Diseases
C0030193 BXGD002191 Pain Pathological Conditions, Signs and Symptoms
C0030421 BXGD002218 Paraganglioma Neoplasms
C0031118 BXGD002286 Peripheral Nervous System Neoplasms Neoplasms; Nervous System Diseases
C0031511 BXGD002304 Pheochromocytoma Neoplasms
C0032002 BXGD002320 Pituitary Diseases Nervous System Diseases; Endocrine System Diseases
C0032580 BXGD002362 Adenomatous Polyposis Coli Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
C0033377 BXGD002406 Ptosis Pathological Conditions, Signs and Symptoms
C0033785 BXGD002421 Pseudarthrosis Wounds and Injuries
C0033860 BXGD002438 Psoriasis Skin and Connective Tissue Diseases
C0034089 BXGD002462 Pulmonary Valve Stenosis Cardiovascular Diseases
C0035320 BXGD002535 Retinal Neovascularization Pathological Conditions, Signs and Symptoms; Eye Diseases
C0035335 BXGD002540 Retinoblastoma Neoplasms; Eye Diseases
C0035412 BXGD002548 Rhabdomyosarcoma Neoplasms
C0036572 BXGD002625 Seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0037579 BXGD002694 Soft Tissue Neoplasms Neoplasms
C0037930 BXGD002714 Spinal Cord Neoplasms Neoplasms; Nervous System Diseases
C0038505 BXGD002765 Sturge-Weber Syndrome Neoplasms; Nervous System Diseases; Cardiovascular Diseases
C0041341 BXGD002918 Tuberous Sclerosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
C0041671 BXGD002930 Attention Deficit Disorder Mental Disorders
C0042063 BXGD002953 Urogenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0042373 BXGD002978 Vascular Diseases Cardiovascular Diseases
C0042963 BXGD003018 Vomiting Pathological Conditions, Signs and Symptoms
C0043020 BXGD003022 Wallerian Degeneration Pathological Conditions, Signs and Symptoms
C0043324 BXGD003040 Juvenile Xanthogranuloma Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
C0079772 BXGD003099 T-Cell Lymphoma Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C0085390 BXGD003160 Li-Fraumeni Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases
C0085669 BXGD003233 Acute leukemia Pathological Conditions, Signs and Symptoms; Neoplasms
C0086692 BXGD003306 Benign Neoplasm Neoplasms
C0149630 BXGD003334 Bicuspid aortic valve Cardiovascular Diseases
C0149721 BXGD003349 Left Ventricular Hypertrophy Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0149782 BXGD003365 Squamous cell carcinoma of lung Neoplasms; Respiratory Tract Diseases
C0149925 BXGD003387 Small cell carcinoma of lung Neoplasms; Respiratory Tract Diseases
C0149940 BXGD003391 Sciatic Neuropathy Nervous System Diseases
C0151529 BXGD003433 Prolonged bleeding time
C0151779 BXGD003473 Cutaneous Melanoma Neoplasms; Skin and Connective Tissue Diseases
C0151786 BXGD003475 Muscle Weakness Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0152013 BXGD003516 Adenocarcinoma of lung (disorder) Neoplasms
C0152021 BXGD003520 Congenital heart disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0162678 BXGD003974 Neurofibromatoses Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
C0162871 BXGD003996 Aortic Aneurysm, Abdominal Cardiovascular Diseases
C0175704 BXGD004010 LEOPARD Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
C0178874 BXGD004037 Tumor Progression Pathological Conditions, Signs and Symptoms
C0202117 BXGD004074 Low density lipoprotein cholesterol measurement
C0202236 BXGD004086 Triglycerides measurement
C0205646 BXGD004098 Adenoma, Basal Cell Neoplasms
C0205647 BXGD004099 Follicular adenoma Neoplasms
C0205648 BXGD004100 Adenoma, Microcystic Neoplasms
C0205649 BXGD004101 Adenoma, Monomorphic Neoplasms
C0205650 BXGD004102 Papillary adenoma Neoplasms
C0205651 BXGD004103 Adenoma, Trabecular Neoplasms
C0205768 BXGD004119 Subependymal Giant Cell Astrocytoma Neoplasms
C0205824 BXGD004128 Liposarcoma, Dedifferentiated Neoplasms
C0205825 BXGD004129 Liposarcoma, Pleomorphic Neoplasms
C0205944 BXGD004141 Sarcoma, Epithelioid Neoplasms
C0205945 BXGD004142 Sarcoma, Spindle Cell Neoplasms
C0206093 BXGD004154 Neuroectodermal Tumors Neoplasms
C0206650 BXGD004214 Fibroadenoma Neoplasms
C0206663 BXGD004225 Neuroectodermal Tumor, Primitive Neoplasms
C0206698 BXGD004248 Cholangiocarcinoma Neoplasms
C0206716 BXGD004262 Ganglioglioma Neoplasms
C0206727 BXGD004272 Nerve Sheath Tumors Neoplasms; Nervous System Diseases
C0206728 BXGD004273 Plexiform Neurofibroma Neoplasms; Nervous System Diseases
C0206729 BXGD004274 Neurofibrosarcoma Neoplasms; Nervous System Diseases
C0220603 BXGD004293 Childhood Brain Neoplasm Neoplasms; Nervous System Diseases
C0220611 BXGD004295 Childhood Rhabdomyosarcoma Neoplasms
C0220615 BXGD004298 Adult Acute Myeloblastic Leukemia Neoplasms
C0220633 BXGD004303 Uveal melanoma Neoplasms; Eye Diseases
C0220695 BXGD004323 Neurofibromatosis, type 4, of Riccardi Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
C0221166 BXGD004397 Paraparesis Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0221217 BXGD004408 Neck webbing Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
C0221252 BXGD004421 Eruptive xanthoma Nutritional and Metabolic Diseases
C0221263 BXGD004427 Cafe-au-Lait Spots Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
C0221354 BXGD004446 Frontal bossing Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0221355 BXGD004447 Macrocephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0221363 BXGD004451 Bifid nose Respiratory Tract Diseases; Otorhinolaryngologic Diseases
C0233514 BXGD004584 Abnormal behavior Behavior and Behavior Mechanisms
C0238198 BXGD004893 Gastrointestinal Stromal Tumors Digestive System Diseases; Neoplasms
C0239234 BXGD004974 Low set ears
C0242379 BXGD005157 Malignant neoplasm of lung Neoplasms; Respiratory Tract Diseases
C0243050 BXGD005212 Cardiovascular Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0259779 BXGD005218 Fibrous Dysplasia
C0259783 BXGD005221 mixed gliomas Neoplasms
C0260037 BXGD005227 Multiple tumors Neoplasms
C0262587 BXGD005259 Parathyroid Adenoma Neoplasms; Endocrine System Diseases
C0265316 BXGD005513 Neurocutaneous Syndromes Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nervous System Diseases
C0265325 BXGD005516 Turcot syndrome (disorder) Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nervous System Diseases
C0278608 BXGD006549 Adult Liposarcoma Neoplasms
C0278622 BXGD006551 Adult Malignant Peripheral Nerve Sheath Tumor Neoplasms; Nervous System Diseases
C0278694 BXGD006564 Disseminated neuroblastoma Neoplasms
C0278877 BXGD006608 Adult Meningioma Neoplasms; Nervous System Diseases
C0278878 BXGD006609 Adult Glioblastoma Neoplasms
C0279550 BXGD006635 Adult Rhabdomyosarcoma Neoplasms
C0279984 BXGD006703 Childhood Liposarcoma Neoplasms
C0279987 BXGD006706 Childhood Malignant Peripheral Nerve Sheath Tumor Neoplasms; Nervous System Diseases
C0280474 BXGD006748 Childhood Glioblastoma Neoplasms
C0280781 BXGD006758 Adult Pilocytic Astrocytoma Neoplasms
C0280783 BXGD006759 Juvenile Pilocytic Astrocytoma Neoplasms
C0280785 BXGD006760 Diffuse Astrocytoma Neoplasms
C0332881 BXGD006905 Congenital pseudoarthrosis Wounds and Injuries
C0334299 BXGD007027 Carcinoid tumor no ICD-O subtype Neoplasms
C0334438 BXGD007068 Superficial spreading malignant melanoma of skin Neoplasms; Skin and Connective Tissue Diseases
C0334467 BXGD007078 Fibrolipoma Neoplasms
C0334579 BXGD007120 Anaplastic astrocytoma Neoplasms
C0334580 BXGD007121 Protoplasmic astrocytoma Neoplasms
C0334581 BXGD007122 Gemistocytic astrocytoma Neoplasms
C0334582 BXGD007123 Fibrillary Astrocytoma Neoplasms
C0334583 BXGD007124 Pilocytic Astrocytoma Neoplasms
C0334588 BXGD007128 Giant Cell Glioblastoma Neoplasms
C0338070 BXGD007165 Childhood Cerebral Astrocytoma Neoplasms
C0338656 BXGD007211 Impaired cognition Mental Disorders
C0342286 BXGD007454 Woodhouse Sakati syndrome Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases
C0344724 BXGD007701 Ostium secundum atrial septal defect Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0346056 BXGD007771 Neuromuscular hamartoma Neoplasms
C0346057 BXGD007772 Cutaneous neurofibroma Neoplasms; Nervous System Diseases
C0346154 BXGD007782 Malignant phyllodes tumor of breast Neoplasms; Skin and Connective Tissue Diseases
C0346302 BXGD007807 Growth Hormone-Secreting Pituitary Adenoma Neoplasms; Nervous System Diseases; Endocrine System Diseases
C0346326 BXGD007811 Optic Nerve Glioma Neoplasms; Eye Diseases; Nervous System Diseases
C0349538 BXGD007921 Malignant melanoma of anus Digestive System Diseases; Neoplasms
C0349588 BXGD007933 Short stature
C0349636 BXGD007941 Pre B-cell acute lymphoblastic leukemia
C0349639 BXGD007943 Juvenile Myelomonocytic Leukemia Neoplasms; Hemic and Lymphatic Diseases
C0392514 BXGD008051 Hereditary hemochromatosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C0392885 BXGD008071 High density lipoprotein measurement
C0406612 BXGD008356 Encephalocraniocutaneous lipomatosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases
C0409959 BXGD008400 Osteoarthritis, Knee Musculoskeletal Diseases
C0409974 BXGD008401 Lupus Erythematosus Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Immune System Diseases
C0423110 BXGD008471 Downward slant of palpebral fissure
C0423325 BXGD008481 Ectropion uveae Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0424295 BXGD008524 Hyperactive behavior Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0424605 BXGD008535 Developmental delay (disorder) Mental Disorders
C0431128 BXGD008664 Papillary craniopharyngioma Neoplasms
C0431478 BXGD008692 Posteriorly rotated ear
C0432072 BXGD008718 Dysmorphic features
C0432360 BXGD008782 Neurofibromatosis type 5 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
C0442874 BXGD008814 Neuropathy Nervous System Diseases
C0454644 BXGD008850 Delayed speech and language development Behavior and Behavior Mechanisms
C0476089 BXGD008977 Endometrial Carcinoma Neoplasms; Female Urogenital Diseases and Pregnancy Complications
C0497327 BXGD009061 Dementia Nervous System Diseases; Mental Disorders
C0521525 BXGD009139 Short neck
C0544886 BXGD009319 Somatic mutation
C0547065 BXGD009355 Mixed oligoastrocytoma Neoplasms
C0549397 BXGD009375 Deviated nasal septum
C0553580 BXGD009399 Ewings sarcoma Neoplasms
C0553586 BXGD009401 Cafe-au-lait macules with pulmonary stenosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
C0553665 BXGD009405 Skin endocrine disorder Skin and Connective Tissue Diseases
C0555198 BXGD009432 Malignant Glioma Neoplasms
C0557874 BXGD009444 Global developmental delay
C0562350 BXGD009476 Hip circumference
C0576093 BXGD009525 Knee joint valgus deformity Musculoskeletal Diseases
C0578038 BXGD009542 Thin lips
C0596263 BXGD009639 Carcinogenesis Pathological Conditions, Signs and Symptoms; Neoplasms
C0598766 BXGD009669 Leukemogenesis Pathological Conditions, Signs and Symptoms; Neoplasms
C0598935 BXGD009674 Tumor Initiation Pathological Conditions, Signs and Symptoms; Neoplasms
C0677886 BXGD009734 Epithelial ovarian cancer Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
C0678222 BXGD009749 Breast Carcinoma Neoplasms; Skin and Connective Tissue Diseases
C0678230 BXGD009750 Congenital Epicanthus
C0684249 BXGD009790 Carcinoma of lung Neoplasms; Respiratory Tract Diseases
C0684276 BXGD009793 Hypsarrhythmia Nervous System Diseases
C0684337 BXGD009796 Ewings sarcoma-primitive neuroectodermal tumor (PNET) Neoplasms
C0699790 BXGD009866 Colon Carcinoma Digestive System Diseases; Neoplasms
C0699791 BXGD009867 Stomach Carcinoma Digestive System Diseases; Neoplasms
C0700095 BXGD009875 Central neuroblastoma Neoplasms; Nervous System Diseases
C0750935 BXGD010257 Cerebral Astrocytoma Neoplasms
C0750936 BXGD010258 Intracranial Astrocytoma Neoplasms
C0751262 BXGD010368 Adult Learning Disorders Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders
C0751263 BXGD010369 Learning Disturbance Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders
C0751265 BXGD010370 Learning Disabilities Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders
C0751374 BXGD010418 Schwannomatosis, Plexiform Neoplasms
C0751689 BXGD010552 Peripheral Nerve Sheath Neoplasm Neoplasms; Nervous System Diseases
C0751690 BXGD010553 Malignant Peripheral Nerve Sheath Tumor Neoplasms; Nervous System Diseases
C0751691 BXGD010554 Perineurioma Neoplasms; Nervous System Diseases
C0796418 BXGD010832 Visual Pathway Glioma Neoplasms
C0836924 BXGD010864 Thrombocytosis Hemic and Lymphatic Diseases
C0851265 BXGD010919 Learning problems
C0917816 BXGD011419 Mental deficiency Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0917817 BXGD011420 Neurofibromatosis 3 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
C0947751 BXGD011494 Vascular inflammations Cardiovascular Diseases
C1135161 BXGD011690 Stage 4S neuroblastoma
C1140680 BXGD011718 Malignant neoplasm of ovary Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
C1257877 BXGD011812 Pheochromocytoma, Extra-Adrenal Neoplasms
C1261473 BXGD011855 Sarcoma Neoplasms
C1263023 BXGD011888 Macroorchidism
C1263846 BXGD011897 Attention deficit hyperactivity disorder Mental Disorders
C1266119 BXGD011964 Solitary fibrous tumor Neoplasms
C1269955 BXGD012005 Tumor Cell Invasion
C1292778 BXGD012237 Chronic myeloproliferative disorder Neoplasms; Hemic and Lymphatic Diseases
C1306459 BXGD012361 Primary malignant neoplasm Neoplasms
C1306460 BXGD012362 Primary malignant neoplasm of lung Neoplasms; Respiratory Tract Diseases
C1330966 BXGD012478 Developmental Academic Disorder Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders
C1332206 BXGD012504 Adult Lymphoma Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C1332977 BXGD012569 Childhood Leukemia Neoplasms
C1332979 BXGD012571 Childhood Lymphoma Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C1332995 BXGD012575 Childhood Pilocytic Astrocytoma Neoplasms
C1333003 BXGD012579 Childhood Kidney Neoplasm Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C1333280 BXGD012609 Desmoplastic melanoma Neoplasms; Skin and Connective Tissue Diseases
C1334708 BXGD012732 Metaplastic carcinoma of breast
C1335177 BXGD012771 Ovarian Serous Adenocarcinoma Neoplasms
C1336076 BXGD012828 Sporadic Breast Carcinoma Neoplasms; Skin and Connective Tissue Diseases
C1370889 BXGD012920 Liposarcoma, well differentiated Neoplasms
C1445957 BXGD013081 Serum total cholesterol measurement
C1510586 BXGD013176 Autism Spectrum Disorders Mental Disorders
C1608408 BXGD013434 Malignant transformation
C1611743 BXGD013456 Familial (FPAH)
C1621958 BXGD013468 Glioblastoma Multiforme Neoplasms
C1704230 BXGD013533 Grade I Astrocytoma Neoplasms
C1708353 BXGD013599 Hereditary Paraganglioma-Pheochromocytoma Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
C1709220 BXGD013621 Desmoplastic Neurotropic Melanoma
C1709353 BXGD013624 Osteofibrous Dysplasia Musculoskeletal Diseases
C1737329 BXGD013728 Dysmorphism Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C1762616 BXGD013753 Meningioma, benign, no ICD-O subtype Neoplasms; Nervous System Diseases
C1827970 BXGD013782 Neurofibroma of subcutaneous tissue Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
C1833662 BXGD013936 INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders
C1834235 BXGD013962 NEUROFIBROMATOSIS, FAMILIAL SPINAL Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
C1834236 BXGD013963 Symmetric spinal nerve root neurofibromas
C1834297 BXGD013964 Inguinal freckling Skin and Connective Tissue Diseases
C1836296 BXGD014105 Muscle Weakness Lower Limb Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C1836542 BXGD014129 Depressed nasal bridge
C1843300 BXGD014572 Sparse eyelashes
C1844809 BXGD014677 Thick nasal alae
C1846058 BXGD014780 Lubs X-linked mental retardation syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C1849075 BXGD015002 Relative macrocephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C1849265 BXGD015028 Overgrowth
C1853242 BXGD015322 Midface retrusion
C1855496 BXGD015502 Contiguous gene syndrome
C1855728 BXGD015536 Low posterior hairline
C1856660 BXGD015629 Abnormality of the helix
C1857486 BXGD015710 Low-set, posteriorly rotated ears
C1857790 BXGD015748 Thoracic scoliosis Musculoskeletal Diseases
C1858085 BXGD015770 Malar flattening
C1860334 BXGD015978 Lisch nodules
C1860335 BXGD015979 Axillary freckling Skin and Connective Tissue Diseases
C1861305 BXGD016027 TARSAL-CARPAL COALITION SYNDROME Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C1861975 BXGD016095 Cafe au lait spots, multiple Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
C1864795 BXGD016250 Superior pectus carinatum Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
C1864796 BXGD016251 Pectus excavatum of inferior sternum
C1865285 BXGD016304 Megalencephaly cutis marmorata telangiectatica congenita Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
C1866195 BXGD016385 Downturned corners of mouth
C1866487 BXGD016401 Prominent nasolabial fold
C1879321 BXGD016572 Acute Myeloid Leukemia (AML-M2) Neoplasms
C1956257 BXGD016623 Pulmonary Stenosis Cardiovascular Diseases
C1961099 BXGD016672 Precursor T-Cell Lymphoblastic Leukemia-Lymphoma Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C1969623 BXGD016782 NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
C1997217 BXGD016859 Low grade glioma Neoplasms
C2243051 BXGD017008 Large head (disorder)
C2347761 BXGD017049 Childhood Myelodysplastic Syndrome Hemic and Lymphatic Diseases
C2721646 BXGD017542 Aneurysm enlargement
C2919142 BXGD017867 Short Stature, CTCAE
C2931482 BXGD018028 Neurofibromatosis-Noonan syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
C2936786 BXGD018137 Aqueductal Stenosis Nervous System Diseases
C2986703 BXGD018240 Overgrowth Syndrome Pathological Conditions, Signs and Symptoms
C3150928 BXGD018358 NF1 Microdeletion Syndrome Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C3266262 BXGD018600 Multiple Chronic Conditions Pathological Conditions, Signs and Symptoms
C3280492 BXGD018831 TUMOR PREDISPOSITION SYNDROME
C3463824 BXGD018899 MYELODYSPLASTIC SYNDROME Hemic and Lymphatic Diseases
C3532247 BXGD019056 Fetal cardiomyopathy Cardiovascular Diseases
C3714756 BXGD019429 Intellectual Disability Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C3805239 BXGD019471 Mid aortic syndrome
C3829122 BXGD019746 Mesenchymal Glioblastoma
C3900098 BXGD020106 Adult Myelodysplastic Syndrome Hemic and Lymphatic Diseases
C4021527 BXGD020654 Abdominal wall muscle weakness Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C4021797 BXGD020787 Abnormality of the thorax
C4021976 BXGD020852 Abnormality of the lymphatic system
C4023681 BXGD021239 Delayed fine motor development
C4024216 BXGD021306 Tibial pseudoarthrosis Wounds and Injuries
C4024217 BXGD021307 Spinal neurofibromas Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
C4024926 BXGD021478 Focal T2 hyperintense basal ganglia lesion
C4025174 BXGD021575 Large cafe-au-lait macules with irregular margins
C4025790 BXGD021791 Specific learning disability
C4025846 BXGD021826 Abnormality of vision
C4048306 BXGD021902 Multiple endocrine neoplasia Type 2 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases
C4086152 BXGD022123 Childhood Astrocytoma Neoplasms
C4086165 BXGD022126 Childhood Neuroblastoma Neoplasms
C4282407 BXGD022423 Sparse and thin eyebrow
C4551683 BXGD023389 Adrenal Gland Pheochromocytoma Neoplasms; Endocrine System Diseases
C4551686 BXGD023391 Malignant neoplasm of soft tissue Neoplasms
C4721610 BXGD023760 Carcinoma, Ovarian Epithelial Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
C4721806 BXGD023772 Carcinoma, Basal Cell Neoplasms
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0000436 Glycerol 92.09
BXGC0002588 Magnesium 24.31
BXGC0003705 Chloride 35.45
BXGC0006368 Formic acid 46.03
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