Showing entry for Transcriptional regulator ATRX



                       
General Target Information
BXGT IdBXGT010508
Protein NameTranscriptional regulator ATRX
Uniport IdP46100
GeneATRX
Gene Id546
DomainADD_ATRX; Helicase_C; SNF2_N
Pfam PF17981   PF00271   PF00176  
OrganismHomo sapiens (Human)
Target protein  affiliated  biological  pathways
KEGG
Class Subclass KEGG Id Pathway Name
Gene Ontology
GO Type GO Id Gene Ontology
Biological Process GO:0072711 cellular response to hydroxyurea
Biological Process GO:0006338 chromatin remodeling
Biological Process GO:0070192 chromosome organization involved in meiotic cell cycle
Biological Process GO:0030330 DNA damage response, signal transduction by p53 class mediator
Biological Process GO:0006306 DNA methylation
Biological Process GO:0006281 DNA repair
Biological Process GO:0006336 DNA replication-independent nucleosome assembly
Biological Process GO:0030900 forebrain development
Biological Process GO:0000212 meiotic spindle organization
Biological Process GO:0035264 multicellular organism growth
Biological Process GO:1904908 negative regulation of maintenance of mitotic sister chromatid cohesion, telomeric
Biological Process GO:1901581 negative regulation of telomeric RNA transcription from RNA pol II promoter
Biological Process GO:0006334 nucleosome assembly
Biological Process GO:0010571 positive regulation of nuclear cell cycle DNA replication
Biological Process GO:0032206 positive regulation of telomere maintenance
Biological Process GO:1901582 positive regulation of telomeric RNA transcription from RNA pol II promoter
Biological Process GO:0045944 positive regulation of transcription by RNA polymerase II
Biological Process GO:0035128 post-embryonic forelimb morphogenesis
Biological Process GO:0070198 protein localization to chromosome, telomeric region
Biological Process GO:1900112 regulation of histone H3-K9 trimethylation
Biological Process GO:0006355 regulation of transcription, DNA-templated
Biological Process GO:0031297 replication fork processing
Biological Process GO:0072520 seminiferous tubule development
Biological Process GO:0060009 Sertoli cell development
Biological Process GO:0007283 spermatogenesis
molecular function GO:0005524 ATP binding
molecular function GO:0003682 chromatin binding
molecular function GO:0070087 chromo shadow domain binding
molecular function GO:0003677 DNA binding
molecular function GO:0003678 DNA helicase activity
molecular function GO:0015616 DNA translocase activity
molecular function GO:0042393 histone binding
molecular function GO:0046872 metal ion binding
molecular function GO:0035064 methylated histone binding
cellular component GO:0000781 chromosome, telomeric region
cellular component GO:0000780 condensed nuclear chromosome, centromeric region
cellular component GO:0016604 nuclear body
cellular component GO:0000784 nuclear chromosome, telomeric region
cellular component GO:0005720 nuclear heterochromatin
cellular component GO:0031618 nuclear pericentric heterochromatin
cellular component GO:1990707 nuclear subtelomeric heterochromatin
cellular component GO:0005654 nucleoplasm
cellular component GO:0005634 nucleus
cellular component GO:0005721 pericentric heterochromatin
cellular component GO:0016605 PML body
Reactome
Pathway Id Pathway Name
R-HSA-157579 Telomere Maintenance
R-HSA-1640170 Cell Cycle
R-HSA-73886 Chromosome Maintenance
R-HSA-9670095 Inhibition of DNA recombination at telomere
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
C0001418 BXGD000050 Adenocarcinoma Neoplasms
C0002312 BXGD000107 alpha-Thalassemia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
C0002793 BXGD000130 Anaplasia Pathological Conditions, Signs and Symptoms; Neoplasms
C0002871 BXGD000132 Anemia Hemic and Lymphatic Diseases
C0002884 BXGD000143 Hypochromic anemia Hemic and Lymphatic Diseases
C0003123 BXGD000178 Anorexia Pathological Conditions, Signs and Symptoms
C0004114 BXGD000255 Astrocytoma Neoplasms
C0004277 BXGD000266 Tooth Attrition Stomatognathic Diseases
C0004352 BXGD000269 Autistic Disorder Mental Disorders
C0005283 BXGD000308 beta Thalassemia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
C0005745 BXGD000331 Blepharoptosis Eye Diseases
C0006118 BXGD000372 Brain Neoplasms Neoplasms; Nervous System Diseases
C0006142 BXGD000374 Malignant neoplasm of breast Neoplasms; Skin and Connective Tissue Diseases
C0006266 BXGD000382 Bronchospasm Respiratory Tract Diseases
C0006826 BXGD000408 Malignant Neoplasms Neoplasms
C0007097 BXGD000424 Carcinoma Neoplasms
C0007131 BXGD000441 Non-Small Cell Lung Carcinoma Neoplasms; Respiratory Tract Diseases
C0008073 BXGD000518 Developmental Disabilities Mental Disorders
C0008925 BXGD000575 Cleft Palate Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
C0009080 BXGD000580 Clubbed Fingers Musculoskeletal Diseases
C0009081 BXGD000581 Congenital clubfoot Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0009402 BXGD000605 Colorectal Carcinoma Digestive System Diseases; Neoplasms
C0009806 BXGD000633 Constipation Pathological Conditions, Signs and Symptoms
C0010417 BXGD000670 Cryptorchidism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases
C0010606 BXGD000677 Adenoid Cystic Carcinoma Neoplasms
C0011581 BXGD000733 Depressive disorder Mental Disorders
C0013132 BXGD000799 Drooling Stomatognathic Diseases
C0013336 BXGD000815 Dwarfism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
C0013404 BXGD000833 Dyspnea Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
C0014038 BXGD000878 Encephalitis Nervous System Diseases
C0014474 BXGD000917 Ependymoma Neoplasms
C0014544 BXGD000926 Epilepsy Nervous System Diseases
C0015310 BXGD000976 Exotropia Eye Diseases; Nervous System Diseases
C0015625 BXGD001006 Fanconi Anemia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
C0015672 BXGD001011 Fatigue Pathological Conditions, Signs and Symptoms
C0016202 BXGD001050 Flatfoot Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0017168 BXGD001101 Gastroesophageal reflux disease Digestive System Diseases
C0017636 BXGD001131 Glioblastoma Neoplasms
C0017638 BXGD001132 Glioma Neoplasms
C0018273 BXGD001189 Growth Disorders Pathological Conditions, Signs and Symptoms
C0018784 BXGD001220 Sensorineural Hearing Loss (disorder) Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C0018818 BXGD001236 Ventricular Septal Defects Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0018926 BXGD001250 Hematemesis Pathological Conditions, Signs and Symptoms; Digestive System Diseases
C0019209 BXGD001305 Hepatomegaly Pathological Conditions, Signs and Symptoms; Digestive System Diseases
C0019294 BXGD001314 Hernia, Inguinal Pathological Conditions, Signs and Symptoms
C0019348 BXGD001325 Herpes Simplex Infections Infections; Skin and Connective Tissue Diseases
C0019372 BXGD001329 Herpesviridae Infections Infections
C0019569 BXGD001337 Hirschsprung Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
C0020179 BXGD001363 Huntington Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
C0020295 BXGD001372 Hydronephrosis Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0020534 BXGD001421 Orbital separation excessive Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0020619 BXGD001447 Hypogonadism Endocrine System Diseases
C0020649 BXGD001459 Hypotension Cardiovascular Diseases
C0021051 BXGD001475 Immunologic Deficiency Syndromes Immune System Diseases
C0023418 BXGD001642 leukemia Neoplasms
C0023449 BXGD001650 Acute lymphocytic leukemia Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C0023452 BXGD001651 Childhood Acute Lymphoblastic Leukemia Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C0023487 BXGD001669 Acute Promyelocytic Leukemia Neoplasms
C0023524 BXGD001681 Leukoencephalopathy, Progressive Multifocal Infections; Nervous System Diseases
C0023882 BXGD001710 Little's Disease Nervous System Diseases
C0024299 BXGD001758 Lymphoma Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C0024421 BXGD001770 Macroglossia Stomatognathic Diseases
C0024433 BXGD001771 Macrostomia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
C0024623 BXGD001791 Malignant neoplasm of stomach Digestive System Diseases; Neoplasms
C0025149 BXGD001826 Medulloblastoma Neoplasms
C0025222 BXGD001838 Melena Pathological Conditions, Signs and Symptoms; Digestive System Diseases
C0025267 BXGD001845 Multiple Endocrine Neoplasia Type 1 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine 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
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
C0026351 BXGD001900 Moderate intellectual disability Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0026499 BXGD001905 Monosomy Pathological Conditions, Signs and Symptoms
C0026650 BXGD001913 Movement Disorders Nervous System Diseases
C0026827 BXGD001936 Muscle hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0026838 BXGD001938 Muscle Spasticity Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0026985 BXGD001956 Myelodysplasia
C0027092 BXGD001971 Myopia Eye Diseases
C0027498 BXGD001994 Nausea and vomiting Pathological Conditions, Signs and Symptoms
C0027627 BXGD002006 Neoplasm Metastasis Pathological Conditions, Signs and Symptoms; Neoplasms
C0027651 BXGD002009 Neoplasms Neoplasms
C0027794 BXGD002036 Neural Tube Defects Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
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
C0027947 BXGD002061 Neutropenia Hemic and Lymphatic Diseases
C0028754 BXGD002082 Obesity Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
C0028945 BXGD002099 oligodendroglioma Neoplasms
C0029124 BXGD002113 Optic Atrophy Eye Diseases; Nervous System Diseases
C0029463 BXGD002160 Osteosarcoma Neoplasms
C0030252 BXGD002199 Palpitations Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases
C0030297 BXGD002204 Pancreatic Neoplasm Digestive System Diseases; Neoplasms; Endocrine System Diseases
C0030421 BXGD002218 Paraganglioma Neoplasms
C0030521 BXGD002235 Parathyroid Neoplasms Neoplasms; Endocrine System Diseases
C0030846 BXGD002260 Penile Diseases Male Urogenital Diseases
C0031511 BXGD002304 Pheochromocytoma Neoplasms
C0031941 BXGD002317 Pineal Gland Neoplasm Neoplasms; Nervous System Diseases
C0033377 BXGD002406 Ptosis Pathological Conditions, Signs and Symptoms
C0033999 BXGD002448 Pterygium Eye Diseases
C0035335 BXGD002540 Retinoblastoma Neoplasms; Eye Diseases
C0035372 BXGD002544 Rett Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0036572 BXGD002625 Seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0036857 BXGD002638 Severe intellectual disability Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0036980 BXGD002649 Shock, Cardiogenic Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0037772 BXGD002703 Spastic Paraplegia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0038002 BXGD002723 Splenomegaly Pathological Conditions, Signs and Symptoms
C0038271 BXGD002742 Stereotyped Behavior Behavior and Behavior Mechanisms
C0038273 BXGD002743 Stereotypic Movement Disorder Mental Disorders
C0038454 BXGD002760 Cerebrovascular accident Nervous System Diseases; Cardiovascular Diseases
C0039101 BXGD002790 synovial sarcoma Neoplasms
C0039730 BXGD002826 Thalassemia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
C0039978 BXGD002830 Thoracic Diseases Respiratory Tract Diseases
C0040034 BXGD002836 Thrombocytopenia Hemic and Lymphatic Diseases
C0040124 BXGD002842 Thyroglossal Cyst Neoplasms
C0040961 BXGD002891 Tricuspid Valve Insufficiency Cardiovascular Diseases
C0042063 BXGD002953 Urogenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0042580 BXGD002992 Vesico-Ureteral Reflux Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0042961 BXGD003017 Intestinal Volvulus Pathological Conditions, Signs and Symptoms; Digestive System Diseases
C0042963 BXGD003018 Vomiting Pathological Conditions, Signs and Symptoms
C0043515 BXGD003049 Zollinger-Ellison syndrome Digestive System Diseases; Neoplasms
C0079924 BXGD003103 Oligohydramnios Female Urogenital Diseases and Pregnancy Complications
C0085136 BXGD003131 Central Nervous System Neoplasms Neoplasms; Nervous System Diseases
C0085271 BXGD003148 Self-Injurious Behavior Behavior and Behavior Mechanisms
C0085576 BXGD003188 Iron-Refractory Iron Deficiency Anemia Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
C0085605 BXGD003200 Liver Failure Digestive System Diseases
C0085636 BXGD003218 Photophobia Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0085669 BXGD003233 Acute leukemia Pathological Conditions, Signs and Symptoms; Neoplasms
C0151889 BXGD003498 Hyperreflexia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0152237 BXGD003569 Talipes Calcaneovalgus Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0152423 BXGD003587 Congenital small ears Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases
C0158731 BXGD003902 Congenital pectus carinatum Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
C0162298 BXGD003933 Joint stiffness Musculoskeletal Diseases
C0162316 BXGD003936 Iron deficiency anemia Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
C0162678 BXGD003974 Neurofibromatoses Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
C0175754 BXGD004015 Agenesis of corpus callosum Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0205768 BXGD004119 Subependymal Giant Cell Astrocytoma Neoplasms
C0206064 BXGD004150 Microvascular Angina Cardiovascular Diseases
C0206659 BXGD004222 Embryonal Carcinoma Neoplasms
C0206663 BXGD004225 Neuroectodermal Tumor, Primitive Neoplasms
C0206754 BXGD004289 Neuroendocrine Tumors Neoplasms
C0221356 BXGD004448 Brachycephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0221357 BXGD004449 Brachydactyly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0221358 BXGD004450 Long narrow head
C0232462 BXGD004542 Decrease in appetite Digestive System Diseases; Nervous System Diseases; Mental Disorders
C0232466 BXGD004543 Feeding difficulties
C0235527 BXGD004753 Heart Failure, Right-Sided Cardiovascular Diseases
C0235946 BXGD004789 Cerebral atrophy Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0236734 BXGD004823 Caffeine related disorders
C0238395 BXGD004922 Male Pseudohermaphroditism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
C0238461 BXGD004936 Anaplastic thyroid carcinoma Neoplasms
C0239137 BXGD004965 Coxa valga Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
C0239181 BXGD004970 Intermittent diarrhea Pathological Conditions, Signs and Symptoms
C0239234 BXGD004974 Low set ears
C0240379 BXGD005033 Open mouth (finding)
C0240635 BXGD005047 Byzanthine arch palate Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases
C0241355 BXGD005092 Small testicle
C0241442 BXGD005099 Protrusion of tongue
C0242363 BXGD005156 Islet Cell Tumor Digestive System Diseases; Neoplasms; Endocrine System Diseases
C0259783 BXGD005221 mixed gliomas Neoplasms
C0262444 BXGD005244 Abnormality of the dentition Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
C0262587 BXGD005259 Parathyroid Adenoma Neoplasms; Endocrine System Diseases
C0262655 BXGD005264 Recurrent urinary tract infection Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases
C0265610 BXGD005555 Clinodactyly of fingers Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0265677 BXGD005564 Congenital hemivertebra Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0266050 BXGD005613 Failure of exfoliation of primary tooth
C0266295 BXGD005645 Congenital hypoplasia of kidney Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0266362 BXGD005657 Ambiguous Genitalia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
C0266435 BXGD005668 Congenital hypoplasia of penis Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0271901 BXGD006277 Microcytic hypochromic anemia (disorder) Hemic and Lymphatic Diseases
C0272005 BXGD006294 Hemoglobin Bart's hydrops syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
C0278660 BXGD006555 Adult Synovial Sarcoma Neoplasms
C0278694 BXGD006564 Disseminated neuroblastoma Neoplasms
C0278874 BXGD006605 Adult Ependymoma Neoplasms
C0278878 BXGD006609 Adult Glioblastoma Neoplasms
C0279070 BXGD006625 Adult Oligodendroglioma Neoplasms
C0279821 BXGD006697 metastatic pheochromocytoma
C0279982 BXGD006702 Childhood Synovial Sarcoma Neoplasms
C0280100 BXGD006713 Solid Neoplasm Neoplasms
C0280216 BXGD006719 stage, neuroblastoma Neoplasms
C0280474 BXGD006748 Childhood Glioblastoma Neoplasms
C0280475 BXGD006749 Childhood Oligodendroglioma Neoplasms
C0280483 BXGD006750 Adult Anaplastic Astrocytoma Neoplasms
C0280781 BXGD006758 Adult Pilocytic Astrocytoma Neoplasms
C0280785 BXGD006760 Diffuse Astrocytoma Neoplasms
C0280793 BXGD006764 Mixed Oligodendroglioma-Astrocytoma Neoplasms
C0282160 BXGD006797 Aplasia Cutis Congenita Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
C0311394 BXGD006884 Difficulty walking Pathological Conditions, Signs and Symptoms
C0333068 BXGD006920 Flexion contracture Musculoskeletal Diseases
C0334254 BXGD007010 Lymphoepithelial carcinoma Neoplasms
C0334419 BXGD007063 Pheochromocytoma, malignant Neoplasms; Endocrine System Diseases
C0334579 BXGD007120 Anaplastic astrocytoma Neoplasms
C0334583 BXGD007124 Pilocytic Astrocytoma Neoplasms
C0334586 BXGD007126 Pleomorphic Xanthoastrocytoma Neoplasms
C0334588 BXGD007128 Giant Cell Glioblastoma Neoplasms
C0342541 BXGD007499 Precocious pubarche Endocrine System Diseases
C0344925 BXGD007709 Perimembranous ventricular septal defect Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0345392 BXGD007732 Congenital kyphoscoliosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0345904 BXGD007745 Malignant neoplasm of liver Digestive System Diseases; Neoplasms
C0346300 BXGD007806 Pituitary carcinoma Neoplasms; Nervous System Diseases; Endocrine System Diseases
C0346647 BXGD007832 Malignant neoplasm of pancreas Digestive System Diseases; Neoplasms; Endocrine System Diseases
C0349588 BXGD007933 Short stature
C0349705 BXGD007952 Abnormal hemoglobin finding
C0376545 BXGD008002 Hematologic Neoplasms Neoplasms; Hemic and Lymphatic Diseases
C0376634 BXGD008006 Craniofacial Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0399526 BXGD008251 Class III malocclusion Stomatognathic Diseases
C0401149 BXGD008273 Chronic constipation Pathological Conditions, Signs and Symptoms
C0423109 BXGD008470 Upward slant of palpebral fissure
C0423110 BXGD008471 Downward slant of palpebral fissure
C0423113 BXGD008473 Telecanthus Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
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
C0424605 BXGD008535 Developmental delay (disorder) Mental Disorders
C0426429 BXGD008564 Broad nasal tip
C0426636 BXGD008573 Urgent desire for stool Digestive System Diseases
C0426886 BXGD008594 Tapering fingers (finding)
C0431108 BXGD008657 Anaplastic Oligoastrocytoma Neoplasms
C0431478 BXGD008692 Posteriorly rotated ear
C0431659 BXGD008699 Hypoplasia of scrotum
C0431663 BXGD008700 Bilateral Cryptorchidism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases
C0431664 BXGD008701 Unilateral Cryptorchidism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases
C0431692 BXGD008703 Bilateral renal hypoplasia
C0431904 BXGD008713 Ulnar polydactyly of fingers Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0432072 BXGD008718 Dysmorphic features
C0454644 BXGD008850 Delayed speech and language development Behavior and Behavior Mechanisms
C0456070 BXGD008863 Growth delay
C0456909 BXGD008883 Blindness Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0473133 BXGD008932 Protracted diarrhea Pathological Conditions, Signs and Symptoms
C0475858 BXGD008975 Generalized pruritus Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
C0494165 BXGD009022 Secondary malignant neoplasm of liver Digestive System Diseases; Neoplasms
C0521158 BXGD009130 Recurrent tumor
C0521525 BXGD009139 Short neck
C0541764 BXGD009259 Delayed bone age
C0555198 BXGD009432 Malignant Glioma Neoplasms
C0557874 BXGD009444 Global developmental delay
C0575158 BXGD009515 Kyphoscoliosis deformity of spine Musculoskeletal Diseases
C0576093 BXGD009525 Knee joint valgus deformity Musculoskeletal Diseases
C0585216 BXGD009588 Alpha-Thalassemia Myelodysplasia Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
C0585442 BXGD009593 Osteosarcoma of bone Neoplasms
C0596028 BXGD009635 Overjet, Dental Stomatognathic Diseases
C0596263 BXGD009639 Carcinogenesis Pathological Conditions, Signs and Symptoms; Neoplasms
C0600031 BXGD009681 Congenital absence of spleen Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Hemic and Lymphatic Diseases
C0600033 BXGD009682 Acquired Kyphoscoliosis Musculoskeletal Diseases
C0678222 BXGD009749 Breast Carcinoma Neoplasms; Skin and Connective Tissue Diseases
C0678230 BXGD009750 Congenital Epicanthus
C0683322 BXGD009782 Mental impairment
C0684337 BXGD009796 Ewings sarcoma-primitive neuroectodermal tumor (PNET) Neoplasms
C0699791 BXGD009867 Stomach Carcinoma Digestive System Diseases; Neoplasms
C0700095 BXGD009875 Central neuroblastoma Neoplasms; Nervous System Diseases
C0750979 BXGD010272 Primary malignant neoplasm of brain Neoplasms; Nervous System Diseases
C0751396 BXGD010425 Well Differentiated Oligodendroglioma Neoplasms
C0751606 BXGD010523 Adult Acute Lymphocytic Leukemia
C0751690 BXGD010553 Malignant Peripheral Nerve Sheath Tumor Neoplasms; Nervous System Diseases
C0796003 BXGD010775 Juberg-Marsidi syndrome Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
C0796159 BXGD010806 Mental retardation Smith Fineman Myers type Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0796611 BXGD010835 Newly Diagnosed Childhood Ependymoma Neoplasms
C0848558 BXGD010882 Hypospadias Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0850715 BXGD010907 Abnormality of blood and blood-forming tissues
C0858684 BXGD011186 Facial telangiectasia Cardiovascular Diseases
C0877243 BXGD011344 Increased serum serotonin
C0973461 BXGD011595 Dysphasia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1136249 BXGD011715 Mental Retardation, X-Linked Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C1261473 BXGD011855 Sarcoma Neoplasms
C1262477 BXGD011882 Weight decreased Pathological Conditions, Signs and Symptoms
C1266129 BXGD011970 Atypical Lipoma Neoplasms
C1269955 BXGD012005 Tumor Cell Invasion
C1275078 BXGD012055 Acrocephalopolysyndactyly type 2 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C1306459 BXGD012361 Primary malignant neoplasm Neoplasms
C1306503 BXGD012363 Congenital exomphalos Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C1328479 BXGD012467 Pancreatic Endocrine Carcinoma Digestive System Diseases; Neoplasms; Endocrine System Diseases
C1332183 BXGD012496 Adult Astrocytic Tumor Neoplasms
C1332899 BXGD012551 Cerebellar Glioblastoma
C1332986 BXGD012574 Childhood Osteosarcoma Neoplasms
C1332995 BXGD012575 Childhood Pilocytic Astrocytoma Neoplasms
C1335110 BXGD012761 Oligodendroglial Neoplasm Neoplasms; Nervous System Diseases
C1335302 BXGD012775 Pancreatic Ductal Adenocarcinoma Digestive System Diseases; Neoplasms; Endocrine System Diseases
C1337011 BXGD012874 Well Differentiated Pancreatic Endocrine Tumor Digestive System Diseases; Neoplasms; Endocrine System Diseases
C1387005 BXGD012953 Penis agenesis Male Urogenital Diseases
C1456873 BXGD013129 alpha^+^ Thalassemia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
C1458155 BXGD013136 Mammary Neoplasms Neoplasms; Skin and Connective Tissue Diseases
C1519086 BXGD013230 Pilomyxoid astrocytoma Neoplasms
C1541567 BXGD013353 Adult Oligodendroglial Tumor
C1563730 BXGD013394 Abdominal Cryptorchidism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases
C1563731 BXGD013395 Inguinal Cryptorchidism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases
C1578482 BXGD013427 Valgus deformities of feet Musculoskeletal Diseases
C1609433 BXGD013438 Congenital absence of kidneys syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C1621958 BXGD013468 Glioblastoma Multiforme Neoplasms
C1704327 BXGD013546 Bone Sarcoma Neoplasms; Musculoskeletal Diseases
C1708998 BXGD013618 Metastatic Adrenal Gland Pheochromocytoma
C1832033 BXGD013795 Adult Subependymal Giant Cell Astrocytoma Neoplasms
C1832034 BXGD013796 Childhood Subependymal Giant Cell Astrocytoma Neoplasms
C1835762 BXGD014046 Widely-spaced maxillary central incisors
C1836189 BXGD014091 Radial deviation of finger
C1836542 BXGD014129 Depressed nasal bridge
C1836842 BXGD014167 Psychomotor deterioration Mental Disorders
C1837397 BXGD014227 Severe global developmental delay
C1837463 BXGD014235 Narrow face
C1837835 BXGD014279 Bilateral talipes equinovarus Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C1839727 BXGD014395 Mental Retardation with Spastic Paraplegia Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C1839739 BXGD014400 Thick lower lip vermilion
C1839749 BXGD014401 Paroxysmal bursts of laughter
C1839758 BXGD014402 Narrow forehead
C1839765 BXGD014403 Triangular nasal tip
C1839767 BXGD014404 Tented upper lip vermilion
C1839783 BXGD014407 Large forehead
C1840077 BXGD014434 Anteverted nostril
C1842876 BXGD014542 Depressed nasal ridge
C1843367 BXGD014576 Poor school performance
C1844813 BXGD014679 Widely spaced teeth
C1845055 BXGD014705 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Hemic and Lymphatic Diseases
C1845245 BXGD014730 Lower limb hypertonia
C1845251 BXGD014734 Facial hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1845847 BXGD014760 Coarse facial features Pathological Conditions, Signs and Symptoms
C1845977 BXGD014769 X- linked recessive
C1846149 BXGD014786 Intellectual disability, progressive Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C1847879 BXGD014895 X-linked dominant inheritance
C1848701 BXGD014967 Elevated hepatic transaminase
C1848977 BXGD014992 Short upper lip
C1849367 BXGD015046 Nasal bridge wide
C1850049 BXGD015101 Clinodactyly of the 5th finger
C1851584 BXGD015221 Childhood Ependymoma Neoplasms
C1853241 BXGD015321 Flat face
C1853242 BXGD015322 Midface retrusion
C1853246 BXGD015323 Eversion of lower lip
C1853487 BXGD015340 Thick eyebrow
C1854114 BXGD015383 Short nose
C1854882 BXGD015439 Absent speech Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1855669 BXGD015525 Absent frontal sinuses
C1856202 BXGD015585 U-Shaped upper lip vermilion
C1856886 BXGD015650 Hypoplastic philtrum
C1857276 BXGD015688 Trichohepatoenteric Syndrome Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases
C1857482 BXGD015706 Slender finger
C1857486 BXGD015710 Low-set, posteriorly rotated ears
C1857679 BXGD015735 Sloping forehead
C1857790 BXGD015748 Thoracic scoliosis Musculoskeletal Diseases
C1858085 BXGD015770 Malar flattening
C1858120 BXGD015774 Generalized hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1858430 BXGD015792 Death in infancy
C1858539 BXGD015803 Shawl scrotum
C1858970 BXGD015835 Chronic noninfectious lymphadenopathy Hemic and Lymphatic Diseases
C1859778 BXGD015931 Postnatal growth retardation
C1860834 BXGD016006 Infantile muscular hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1865017 BXGD016283 Thin upper lip vermilion
C1865916 BXGD016355 Bilateral ptosis Eye Diseases
C1866134 BXGD016378 Wide anterior fontanel
C1867441 BXGD016455 Pterygium Of Conjunctiva And Cornea Eye Diseases
C1963099 BXGD016682 Myelodysplasia, CTCAE
C2239176 BXGD016965 Liver carcinoma Digestive System Diseases; Neoplasms
C2347761 BXGD017049 Childhood Myelodysplastic Syndrome Hemic and Lymphatic Diseases
C2673700 BXGD017223 Brisk reflexes Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C2674608 BXGD017250 Feeding difficulties in infancy
C2675021 BXGD017264 Narrow palpebral fissure
C2713368 BXGD017496 Hematopoetic Myelodysplasia Hemic and Lymphatic Diseases
C2745900 BXGD017568 Promyelocytic leukemia
C2748518 BXGD017593 Lumbar scoliosis
C2873754 BXGD017816 Severe alpha thalassemia
C2873755 BXGD017817 Triple gene defect alpha thalassemia
C2919142 BXGD017867 Short Stature, CTCAE
C2939419 BXGD018178 Secondary Neoplasm Pathological Conditions, Signs and Symptoms; Neoplasms
C2939447 BXGD018179 Right ventricular failure Cardiovascular Diseases
C2985171 BXGD018218 Glioneuronal Tumor with Neuropil-Like Islands Neoplasms
C3160712 BXGD018467 Palpitations, CTCAE
C3161173 BXGD018504 Hemoglobin H Constant Spring
C3161174 BXGD018505 Hemoglobin H Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
C3161175 BXGD018506 Hydrops fetalis due to alpha thalassemia
C3463824 BXGD018899 MYELODYSPLASTIC SYNDROME Hemic and Lymphatic Diseases
C3469521 BXGD018910 FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
C3553450 BXGD019175 Profound global developmental delay
C3640999 BXGD019241 High Grade Astrocytic Tumor Neoplasms
C3714753 BXGD019428 RETINOSCHISIS 1, X-LINKED, JUVENILE
C3714756 BXGD019429 Intellectual Disability Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C3808022 BXGD019536 Episodic abdominal pain Pathological Conditions, Signs and Symptoms
C3841475 BXGD019800 beta^+^ Thalassemia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
C3887612 BXGD019905 Psychomotor Agitation Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
C3899645 BXGD020087 Childhood Pleomorphic Xanthoastrocytoma
C3899646 BXGD020088 Childhood Pilomyxoid Astrocytoma
C3899649 BXGD020089 Childhood Oligoastrocytoma Neoplasms
C3899676 BXGD020099 Childhood Anaplastic Oligoastrocytoma
C3900098 BXGD020106 Adult Myelodysplastic Syndrome Hemic and Lymphatic Diseases
C4016452 BXGD020338 MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED
C4020755 BXGD020478 Abnormality of fontanelles
C4021070 BXGD020540 Absent mastoid
C4021166 BXGD020571 Bridged palmar crease
C4021740 BXGD020748 Increased circulating ACTH level
C4021768 BXGD020766 Abnormality of metabolism/homeostasis
C4022543 BXGD020911 Accessory scrotum
C4022606 BXGD020935 Lack of bowel sounds
C4022909 BXGD021035 Excessive femoral anteversion
C4023136 BXGD021119 Reduced alpha/beta synthesis ratio
C4023950 BXGD021280 Enlarged epiphyses of the distal phalanges of the hand
C4024780 BXGD021415 Almond-shaped palpebral fissure
C4025812 BXGD021804 Dermatological manifestations of systemic disorders
C4072942 BXGD022027 Atypical pulmonary carcinoid tumor
C4082169 BXGD022084 Metatarsus Varus Musculoskeletal Diseases
C4086152 BXGD022123 Childhood Astrocytoma Neoplasms
C4086165 BXGD022126 Childhood Neuroblastoma Neoplasms
C4476938 BXGD022892 Impairment of activities of daily living
C4520843 BXGD023043 Pterygium of eye Eye Diseases
C4531035 BXGD023181 Abnormal pulmonary valve cusp morphology
C4551485 BXGD023312 Clinodactyly
C4551492 BXGD023317 Micropenis
C4551548 BXGD023342 Grade III Childhood Astrocytoma Neoplasms
C4551563 BXGD023351 Microcephaly (physical finding)
C4551566 BXGD023354 Equinovarus deformity of foot Musculoskeletal Diseases
C4551583 BXGD023361 Cerebral cortical atrophy
C4551683 BXGD023389 Adrenal Gland Pheochromocytoma Neoplasms; Endocrine System Diseases
C4551686 BXGD023391 Malignant neoplasm of soft tissue Neoplasms
C4553743 BXGD023548 Spasticity, CTCAE
C4722085 BXGD023788 Malignant neoplasm of colon and/or rectum
C4725671 BXGD023833 High-Risk Neuroblastoma Neoplasms
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0002591 Potassium 39.1
BXGC0049447 acetate 59.01
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