Showing entry for Alpha-L-iduronidase


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT009837
Protein NameAlpha-L-iduronidase
Uniport IdP35475
GeneIDUA
Gene Id3425
DomainGlyco_hydro_39
Pfam PF01229  
OrganismHomo sapiens (Human)
Target protein  affiliated  biological  pathways
KEGG
Class Subclass KEGG Id Pathway Name
1. Metabolism 1.7 Glycan biosynthesis and metabolism hsa00531 Glycosaminoglycan degradation
1. Metabolism 1.0 Global and overview maps hsa01100 Metabolic pathways
4. Cellular Processes 4.1 Transport and catabolism hsa04142 Lysosome
Gene Ontology
GO Type GO Id Gene Ontology
Biological Process GO:0030207 chondroitin sulfate catabolic process
Biological Process GO:0030209 dermatan sulfate catabolic process
Biological Process GO:0005984 disaccharide metabolic process
Biological Process GO:0006027 glycosaminoglycan catabolic process
Biological Process GO:0030211 heparin catabolic process
molecular function GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds
molecular function GO:0003940 L-iduronidase activity
molecular function GO:0005102 signaling receptor binding
cellular component GO:0030135 coated vesicle
cellular component GO:0070062 extracellular exosome
cellular component GO:0043202 lysosomal lumen
Reactome
Pathway Id Pathway Name
R-HSA-1430728 Metabolism
R-HSA-1630316 Glycosaminoglycan metabolism
R-HSA-1638091 Heparan sulfate/heparin (HS-GAG) metabolism
R-HSA-1643685 Disease
R-HSA-1793185 Chondroitin sulfate/dermatan sulfate metabolism
R-HSA-2024096 HS-GAG degradation
R-HSA-2024101 CS/DS degradation
R-HSA-2206281 Mucopolysaccharidoses
R-HSA-2206302 MPS I - Hurler syndrome
R-HSA-5663084 Diseases of carbohydrate metabolism
R-HSA-5668914 Diseases of metabolism
R-HSA-71387 Metabolism of carbohydrates
Target protein-related  diseases
Disease
CUI Id BXGD Id Disease Name Disease Class
C0002871 BXGD000132 Anemia Hemic and Lymphatic Diseases
C0002873 BXGD000133 Anemia of chronic disease Hemic and Lymphatic Diseases
C0002962 BXGD000160 Angina Pectoris Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0002986 BXGD000165 Fabry Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases
C0003504 BXGD000202 Aortic Valve Insufficiency Cardiovascular Diseases
C0003507 BXGD000203 Aortic Valve Stenosis Cardiovascular Diseases
C0004936 BXGD000295 Mental disorders Mental Disorders
C0005938 BXGD000351 Bone Density
C0005940 BXGD000352 Bone Diseases Musculoskeletal Diseases
C0006111 BXGD000369 Brain Diseases Nervous System 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
C0007102 BXGD000425 Malignant tumor of colon Digestive System Diseases; Neoplasms
C0007682 BXGD000471 CNS disorder Nervous System Diseases
C0007789 BXGD000488 Cerebral Palsy Nervous System Diseases
C0009324 BXGD000597 Ulcerative Colitis Digestive System Diseases
C0009402 BXGD000605 Colorectal Carcinoma Digestive System Diseases; Neoplasms
C0009663 BXGD000618 Condylomata Acuminata Infections; Skin and Connective Tissue Diseases
C0009918 BXGD000636 Contracture of joint Musculoskeletal Diseases
C0010038 BXGD000643 Corneal Opacity Eye Diseases
C0011334 BXGD000716 Dental caries Stomatognathic Diseases
C0011581 BXGD000733 Depressive disorder Mental Disorders
C0011881 BXGD000760 Diabetic Nephropathy Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System 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
C0014117 BXGD000893 Endocardial Fibroelastosis Cardiovascular Diseases
C0015672 BXGD001011 Fatigue Pathological Conditions, Signs and Symptoms
C0017205 BXGD001105 Gaucher Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C0017601 BXGD001125 Glaucoma Eye Diseases
C0017636 BXGD001131 Glioblastoma Neoplasms
C0017919 BXGD001150 Glycogen Storage Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C0017921 BXGD001152 Glycogen storage disease type II Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C0018609 BXGD001208 Hartnup Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases
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
C0018799 BXGD001224 Heart Diseases Cardiovascular Diseases
C0019209 BXGD001305 Hepatomegaly Pathological Conditions, Signs and Symptoms; Digestive System Diseases
C0019214 BXGD001307 Hepatosplenomegaly Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Hemic and Lymphatic Diseases
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
C0020179 BXGD001363 Huntington Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
C0020255 BXGD001369 Hydrocephalus Nervous System Diseases
C0020538 BXGD001422 Hypertensive disease Cardiovascular Diseases
C0020725 BXGD001465 Type II Mucolipidosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
C0021390 BXGD001503 Inflammatory Bowel Diseases Digestive System Diseases
C0022821 BXGD001590 Kyphosis deformity of spine Musculoskeletal Diseases
C0023434 BXGD001643 Chronic Lymphocytic Leukemia Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C0023440 BXGD001646 Acute Erythroblastic Leukemia Neoplasms; Hemic and Lymphatic Diseases
C0023465 BXGD001656 Acute monocytic leukemia Neoplasms
C0023467 BXGD001658 Leukemia, Myelocytic, Acute Neoplasms
C0023521 BXGD001679 Globoid cell leukodystrophy Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C0023530 BXGD001683 Leukopenia Hemic and Lymphatic Diseases
C0023786 BXGD001697 Mucopolysaccharidosis I Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
C0023893 BXGD001716 Liver Cirrhosis, Experimental Pathological Conditions, Signs and Symptoms; Digestive System 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
C0025202 BXGD001832 melanoma Neoplasms
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
C0025521 BXGD001876 Inborn Errors of Metabolism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C0025990 BXGD001884 Micrognathism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
C0026266 BXGD001895 Mitral Valve Insufficiency Cardiovascular Diseases
C0026697 BXGD001918 Mucolipidoses Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
C0026703 BXGD001919 Mucopolysaccharidoses Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
C0026705 BXGD001920 Mucopolysaccharidosis II Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases
C0026708 BXGD001923 Mucopolysaccharidosis V Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
C0026764 BXGD001928 Multiple Myeloma Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
C0026827 BXGD001936 Muscle hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0027627 BXGD002006 Neoplasm Metastasis Pathological Conditions, Signs and Symptoms; Neoplasms
C0027651 BXGD002009 Neoplasms Neoplasms
C0027746 BXGD002032 Nerve Degeneration Pathological Conditions, Signs and Symptoms
C0027765 BXGD002033 nervous system disorder Nervous System Diseases
C0027947 BXGD002061 Neutropenia Hemic and Lymphatic Diseases
C0028064 BXGD002068 Niemann-Pick Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
C0029422 BXGD002142 Osteochondrodysplasias Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0029456 BXGD002157 Osteoporosis Nutritional and Metabolic Diseases; Musculoskeletal Diseases
C0029882 BXGD002177 Otitis Media Otorhinolaryngologic Diseases
C0030193 BXGD002191 Pain Pathological Conditions, Signs and Symptoms
C0030567 BXGD002240 Parkinson Disease Nervous System Diseases
C0035309 BXGD002530 Retinal Diseases Eye Diseases
C0035455 BXGD002554 Rhinitis Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
C0036439 BXGD002615 Scoliosis, unspecified Musculoskeletal Diseases
C0036572 BXGD002625 Seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0037317 BXGD002689 Sleep disturbances Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0037771 BXGD002702 Paraparesis, Spastic Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0037926 BXGD002712 Compression of spinal cord Nervous System Diseases; Wounds and Injuries
C0038002 BXGD002723 Splenomegaly Pathological Conditions, Signs and Symptoms
C0038016 BXGD002727 Spondylolisthesis Musculoskeletal Diseases
C0038358 BXGD002748 Gastric ulcer Digestive System Diseases
C0038454 BXGD002760 Cerebrovascular accident Nervous System Diseases; Cardiovascular Diseases
C0039273 BXGD002806 Talipes cavus Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0040034 BXGD002836 Thrombocytopenia Hemic and Lymphatic Diseases
C0040583 BXGD002878 Tracheal Stenosis Respiratory Tract Diseases
C0042798 BXGD003003 Low Vision Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0079748 BXGD003094 Precursor cell lymphoblastic lymphoma Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C0085078 BXGD003118 Lysosomal Storage Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C0085132 BXGD003130 Mucopolysaccharidosis VII Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
C0085576 BXGD003188 Iron-Refractory Iron Deficiency Anemia Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
C0085669 BXGD003233 Acute leukemia Pathological Conditions, Signs and Symptoms; Neoplasms
C0086431 BXGD003280 Hurler-Scheie Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
C0086647 BXGD003298 Mucopolysaccharidosis Type IIIA Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
C0086648 BXGD003299 MPS III B Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
C0086651 BXGD003302 Mucopolysaccharidosis, MPS-IV-A Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
C0086652 BXGD003303 Mucopolysaccharidosis type IVB Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
C0086795 BXGD003311 Pfaundler-Hurler Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
C0152021 BXGD003520 Congenital heart disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0155552 BXGD003801 Hearing Loss, Mixed Conductive-Sensorineural Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C0162298 BXGD003933 Joint stiffness Musculoskeletal Diseases
C0162316 BXGD003936 Iron deficiency anemia Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
C0177804 BXGD004019 Bone Mineral Density Test
C0206062 BXGD004148 Lung Diseases, Interstitial Respiratory Tract Diseases
C0220630 BXGD004302 Adult Liver Carcinoma Digestive System Diseases; Neoplasms
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
C0221358 BXGD004450 Long narrow head
C0221505 BXGD004466 Lesion of brain
C0232466 BXGD004543 Feeding difficulties
C0233514 BXGD004584 Abnormal behavior Behavior and Behavior Mechanisms
C0234132 BXGD004623 Pyramidal sign Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0234985 BXGD004708 Mental deterioration Mental Disorders
C0235031 BXGD004714 Neurologic Symptoms Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0239137 BXGD004965 Coxa valga Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
C0240066 BXGD005016 Iron deficiency Nutritional and Metabolic Diseases
C0240340 BXGD005031 Microdontia (disorder) Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
C0241165 BXGD005083 Thick skin
C0241654 BXGD005104 Abnormal heart valve morphology Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0242379 BXGD005157 Malignant neoplasm of lung Neoplasms; Respiratory Tract Diseases
C0265004 BXGD005446 Dilatation of aorta Cardiovascular Diseases
C0265673 BXGD005563 Congenital kyphosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0267971 BXGD005798 Storage disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C0268490 BXGD005962 Tyrosinemia, Type I Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C0272386 BXGD006361 Hypertrophy of tonsils Pathological Conditions, Signs and Symptoms
C0276496 BXGD006426 Familial Alzheimer Disease (FAD) Nervous System Diseases; Mental Disorders
C0278510 BXGD006526 Childhood Medulloblastoma Neoplasms
C0278721 BXGD006572 Adult Lymphoblastic Lymphoma
C0278876 BXGD006607 Adult Medulloblastoma Neoplasms
C0278878 BXGD006609 Adult Glioblastoma Neoplasms
C0279000 BXGD006622 Liver and Intrahepatic Biliary Tract Carcinoma Digestive System Diseases; Neoplasms
C0279525 BXGD006627 Childhood Lymphoblastic Lymphoma
C0279702 BXGD006685 Conventional (Clear Cell) Renal Cell Carcinoma Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0280474 BXGD006748 Childhood Glioblastoma Neoplasms
C0302180 BXGD006833 Condyloma
C0333068 BXGD006920 Flexion contracture Musculoskeletal Diseases
C0338656 BXGD007211 Impaired cognition Mental Disorders
C0342643 BXGD007520 Autosomal recessive hypophosphatemic vitamin D refractory rickets Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases
C0342751 BXGD007542 Generalized glycogen storage disease of infants Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C0345904 BXGD007745 Malignant neoplasm of liver Digestive System Diseases; Neoplasms
C0345967 BXGD007756 Malignant mesothelioma Neoplasms; Respiratory Tract Diseases
C0349588 BXGD007933 Short stature
C0376480 BXGD007998 Gingival Overgrowth Stomatognathic Diseases
C0376634 BXGD008006 Craniofacial Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0399526 BXGD008251 Class III malocclusion Stomatognathic Diseases
C0401151 BXGD008274 Chronic diarrhea Pathological Conditions, Signs and Symptoms; Digestive System Diseases
C0409348 BXGD008384 Flexion contracture of proximal interphalangeal joint
C0410528 BXGD008430 Skeletal dysplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0423250 BXGD008476 Corneal stromal opacities Eye Diseases
C0426421 BXGD008561 Wide nose
C0426429 BXGD008564 Broad nasal tip
C0426799 BXGD008578 Congenital hypoplasia of clavicle Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0426807 BXGD008581 Short clavicle
C0456909 BXGD008883 Blindness Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0497552 BXGD009067 Congenital neurologic anomalies Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0520679 BXGD009101 Sleep Apnea, Obstructive Respiratory Tract Diseases; Nervous System Diseases
C0521525 BXGD009139 Short neck
C0521719 BXGD009167 Clouding of corneal stroma Eye Diseases; Skin and Connective Tissue Diseases
C0524812 BXGD009245 Intracranial Hypotension Nervous System Diseases
C0549123 BXGD009359 Large tonsils (finding) Pathological Conditions, Signs and Symptoms
C0549473 BXGD009384 Thyroid carcinoma Neoplasms; Endocrine System Diseases
C0557874 BXGD009444 Global developmental delay
C0576093 BXGD009525 Knee joint valgus deformity Musculoskeletal Diseases
C0596263 BXGD009639 Carcinogenesis Pathological Conditions, Signs and Symptoms; Neoplasms
C0678222 BXGD009749 Breast Carcinoma Neoplasms; Skin and Connective Tissue Diseases
C0699790 BXGD009866 Colon Carcinoma Digestive System Diseases; Neoplasms
C0699791 BXGD009867 Stomach Carcinoma Digestive System Diseases; Neoplasms
C0700201 BXGD009880 Dyssomnias Nervous System Diseases; Mental Disorders
C0743360 BXGD010082 Recurrent ear infections
C0750901 BXGD010242 Alzheimer Disease, Early Onset Nervous System Diseases; Mental Disorders
C0751463 BXGD010451 Nerve Root Compression Nervous System Diseases
C0850673 BXGD010904 congenital metabolic disorder
C0851578 BXGD010925 Sleep Disorders Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders
C0852866 BXGD010954 Cervical cord compression Nervous System Diseases; Wounds and Injuries
C0878544 BXGD011368 Cardiomyopathies Cardiovascular Diseases
C1168401 BXGD011792 Squamous cell carcinoma of the head and neck Neoplasms
C1260926 BXGD011844 Abnormal pigmentation
C1269955 BXGD012005 Tumor Cell Invasion
C1306459 BXGD012361 Primary malignant neoplasm Neoplasms
C1306503 BXGD012363 Congenital exomphalos Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C1335302 BXGD012775 Pancreatic Ductal Adenocarcinoma Digestive System Diseases; Neoplasms; Endocrine System Diseases
C1384666 BXGD012948 hearing impairment Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C1621958 BXGD013468 Glioblastoma Multiforme Neoplasms
C1832661 BXGD013866 ANOPHTHALMIA AND PULMONARY HYPOPLASIA Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases
C1834129 BXGD013957 Abnormal vertebral morphology
C1835473 BXGD014033 Diaphyseal thickening
C1836542 BXGD014129 Depressed nasal bridge
C1836543 BXGD014130 Thick vermilion border
C1840077 BXGD014434 Anteverted nostril
C1842083 BXGD014494 Abnormality of the ribs
C1845847 BXGD014760 Coarse facial features Pathological Conditions, Signs and Symptoms
C1846439 BXGD014817 Hypoplasia of the odontoid process Musculoskeletal Diseases
C1848103 BXGD014905 Narrow pelvis bone
C1849211 BXGD015023 Generalized hirsutism Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
C1849367 BXGD015046 Nasal bridge wide
C1853246 BXGD015323 Eversion of lower lip
C1853487 BXGD015340 Thick eyebrow
C1854718 BXGD015427 J-shaped sella turcica
C1854838 BXGD015438 Progressive neurologic deterioration Mental Disorders
C1855418 BXGD015495 Thoracolumbar kyphosis
C1856087 BXGD015571 Biconcave vertebral bodies
C1856184 BXGD015583 HEMIHYPERPLASIA, ISOLATED Pathological Conditions, Signs and Symptoms
C1856920 BXGD015657 Hypoplasia of the femoral head
C1857108 BXGD015677 Limitation of joint mobility
C1858430 BXGD015792 Death in infancy
C1859680 BXGD015917 Broad face
C1861329 BXGD016033 Spinal canal stenosis Musculoskeletal Diseases
C1863351 BXGD016167 Calvarial hyperostosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C1865841 BXGD016343 Flared iliac wings
C1866231 BXGD016388 Full cheeks
C1866772 BXGD016424 Abnormal nerve conduction velocity
C1961102 BXGD016673 Precursor Cell Lymphoblastic Leukemia Lymphoma Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C1962966 BXGD016678 Retinopathy, CTCAE
C2239176 BXGD016965 Liver carcinoma Digestive System Diseases; Neoplasms
C2347748 BXGD017041 Adult Erythroleukemia
C2697932 BXGD017440 Loeys-Dietz Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases
C2713321 BXGD017494 alpha-L-Iduronidase Deficiency Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
C2718068 BXGD017524 beta-Galactosidase Deficiency Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C2748652 BXGD017604 Large face
C2919142 BXGD017867 Short Stature, CTCAE
C2973725 BXGD018205 Pulmonary arterial hypertension Respiratory Tract Diseases; Cardiovascular Diseases
C2985280 BXGD018223 Blood Protein Measurement
C3203102 BXGD018555 Idiopathic pulmonary arterial hypertension Respiratory Tract Diseases
C3258293 BXGD018588 Valvular disease
C3266262 BXGD018600 Multiple Chronic Conditions Pathological Conditions, Signs and Symptoms
C3494976 BXGD018977 Migrating partial seizures in infancy Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C3539878 BXGD019087 Triple Negative Breast Neoplasms Neoplasms; Skin and Connective Tissue 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
C3825414 BXGD019695 Pain in children Pathological Conditions, Signs and Symptoms
C4021152 BXGD020565 Abnormal CNS myelination
C4021386 BXGD020621 Abnormality of the elbow
C4021611 BXGD020697 Abnormality of epiphysis morphology
C4021787 BXGD020780 Abnormal diaphysis morphology
C4021790 BXGD020782 Abnormality of the skeletal system
C4021792 BXGD020783 Abnormality of the clavicle
C4021975 BXGD020851 Abnormality of the tonsils
C4023009 BXGD021062 Constrictive median neuropathy Nervous System Diseases
C4024726 BXGD021387 Mucopolysacchariduria
C4025598 BXGD021686 Urinary glycosaminoglycan excretion
C4048329 BXGD021904 Immunosuppression
C4520840 BXGD023041 Erythroleukemia (Erythroid/Myeloid) Neoplasms; Hemic and Lymphatic Diseases
C4528668 BXGD023176 Acute myeloid leukaemia refractory Neoplasms
C4722085 BXGD023788 Malignant neoplasm of colon and/or rectum
C4722518 BXGD023806 Triple-Negative Breast Carcinoma Neoplasms; Skin and Connective Tissue Diseases
C4725027 BXGD023824 Refractory Acute Leukemia
C4732730 BXGD023895 Blood spots
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0000436 Glycerol 92.09
BXGC0000696 Tartaric acid 150.09
BXGC0003705 Chloride 35.45
BXGC0015288 mesotartaric acid 150.02
BXGC0018397 beta-1,4-mannan 180.06
BXGC0050194 alpha-D-Mannose 180.06
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