Showing entry for Collagen alpha-1(IV) chain



                       
General Target Information
BXGT IdBXGT005881
Protein NameCollagen alpha-1(IV) chain
Uniport IdP02462
GeneCOL4A1
Gene Id1282
DomainC4; Collagen
Pfam PF01413   PF01391  
OrganismHomo sapiens (Human)
Target protein  affiliated  biological  pathways
KEGG
Class Subclass KEGG Id Pathway Name
3. Environmental Information Processing 3.2 Signal transduction hsa04151 PI3K-Akt signaling pathway
4. Cellular Processes 4.3 Cellular community - eukaryotes hsa04510 Focal adhesion
3. Environmental Information Processing 3.3 Signaling molecules and interaction hsa04512 ECM-receptor interaction
5. Organismal Systems 5.2 Endocrine system hsa04926 Relaxin signaling pathway
6. Human Diseases 6.7 Endocrine and metabolic diseases hsa04933 AGE-RAGE signaling pathway in diabetic complications
5. Organismal Systems 5.4 Digestive system hsa04974 Protein digestion and absorption
6. Human Diseases 6.10 Infectious diseases: Parasitic hsa05146 Amoebiasis
6. Human Diseases 6.9 Infectious diseases: Viral hsa05165 Human papillomavirus infection
6. Human Diseases 6.1 Cancers: Overview hsa05200 Pathways in cancer
6. Human Diseases 6.2 Cancers: Specific types hsa05222 Small cell lung cancer
Gene Ontology
GO Type GO Id Gene Ontology
Biological Process GO:0071711 basement membrane organization
Biological Process GO:0048514 blood vessel morphogenesis
Biological Process GO:0007420 brain development
Biological Process GO:0001569 branching involved in blood vessel morphogenesis
Biological Process GO:0071230 cellular response to amino acid stimulus
Biological Process GO:0038063 collagen-activated tyrosine kinase receptor signaling pathway
Biological Process GO:0030855 epithelial cell differentiation
Biological Process GO:0030198 extracellular matrix organization
Biological Process GO:0007528 neuromuscular junction development
Biological Process GO:0061333 renal tubule morphogenesis
Biological Process GO:0061304 retinal blood vessel morphogenesis
molecular function GO:0005201 extracellular matrix structural constituent
molecular function GO:0030020 extracellular matrix structural constituent conferring tensile strength
molecular function GO:0048407 platelet-derived growth factor binding
cellular component GO:0005604 basement membrane
cellular component GO:0062023 collagen-containing extracellular matrix
cellular component GO:0005587 collagen type IV trimer
cellular component GO:0005788 endoplasmic reticulum lumen
cellular component GO:0031012 extracellular matrix
cellular component GO:0005576 extracellular region
cellular component GO:0005615 extracellular space
Reactome
Pathway Id Pathway Name
R-HSA-1266738 Developmental Biology
R-HSA-1442490 Collagen degradation
R-HSA-1442490 Collagen degradation
R-HSA-1474228 Degradation of the extracellular matrix
R-HSA-1474228 Degradation of the extracellular matrix
R-HSA-1474244 Extracellular matrix organization
R-HSA-1474244 Extracellular matrix organization
R-HSA-1474290 Collagen formation
R-HSA-162582 Signal Transduction
R-HSA-1650814 Collagen biosynthesis and modifying enzymes
R-HSA-186797 Signaling by PDGF
R-HSA-2022090 Assembly of collagen fibrils and other multimeric structures
R-HSA-216083 Integrin cell surface interactions
R-HSA-216083 Integrin cell surface interactions
R-HSA-2173782 Binding and Uptake of Ligands by Scavenger Receptors
R-HSA-2214320 Anchoring fibril formation
R-HSA-2243919 Crosslinking of collagen fibrils
R-HSA-3000157 Laminin interactions
R-HSA-3000157 Laminin interactions
R-HSA-3000171 Non-integrin membrane-ECM interactions
R-HSA-3000178 ECM proteoglycans
R-HSA-3000480 Scavenging by Class A Receptors
R-HSA-375165 NCAM signaling for neurite out-growth
R-HSA-419037 NCAM1 interactions
R-HSA-422475 Axon guidance
R-HSA-5653656 Vesicle-mediated transport
R-HSA-8948216 Collagen chain trimerization
R-HSA-9006934 Signaling by Receptor Tyrosine Kinases
R-HSA-9675108 Nervous system development
Target protein-related  diseases
Disease
CUI Id BXGD Id Disease Name Disease Class
C0000768 BXGD000007 Congenital Abnormality Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0002418 BXGD000112 Amblyopia Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0002878 BXGD000137 Anemia, Hemolytic Hemic and Lymphatic Diseases
C0002879 BXGD000138 Anemia, Hemolytic, Acquired Hemic and Lymphatic Diseases
C0002889 BXGD000146 Anemia, Microangiopathic Hemic and Lymphatic Diseases
C0002895 BXGD000152 Anemia, Sickle Cell Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
C0002986 BXGD000165 Fabry Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases
C0002994 BXGD000169 Angioedema Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases
C0003119 BXGD000177 Anophthalmos Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0003811 BXGD000222 Cardiac Arrhythmia Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0003850 BXGD000225 Arteriosclerosis Cardiovascular Diseases
C0003864 BXGD000231 Arthritis Musculoskeletal Diseases
C0003873 BXGD000236 Rheumatoid Arthritis Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases
C0004153 BXGD000260 Atherosclerosis Cardiovascular Diseases
C0004623 BXGD000282 Bacterial Infections Infections
C0005684 BXGD000319 Malignant neoplasm of urinary bladder Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0005695 BXGD000323 Bladder Neoplasm Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0005779 BXGD000336 Blood Coagulation Disorders Hemic and Lymphatic Diseases
C0005910 BXGD000349 Body Weight Pathological Conditions, Signs and Symptoms
C0006111 BXGD000369 Brain Diseases Nervous System Diseases
C0006142 BXGD000374 Malignant neoplasm of breast Neoplasms; Skin and Connective Tissue Diseases
C0006826 BXGD000408 Malignant Neoplasms Neoplasms
C0007194 BXGD000452 Hypertrophic Cardiomyopathy Cardiovascular Diseases
C0007222 BXGD000454 Cardiovascular Diseases Cardiovascular Diseases
C0007766 BXGD000478 Intracranial Aneurysm Nervous System Diseases; Cardiovascular Diseases
C0007789 BXGD000488 Cerebral Palsy Nervous System Diseases
C0007820 BXGD000491 Cerebrovascular Disorders Nervous System Diseases; Cardiovascular Diseases
C0009691 BXGD000622 Congenital cataract Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases
C0010038 BXGD000643 Corneal Opacity Eye Diseases
C0010054 BXGD000647 Coronary Arteriosclerosis Cardiovascular Diseases
C0010068 BXGD000648 Coronary heart disease Cardiovascular Diseases
C0010417 BXGD000670 Cryptorchidism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases
C0010964 BXGD000692 Dandy-Walker Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0011265 BXGD000708 Presenile dementia Nervous System Diseases; Mental Disorders
C0011581 BXGD000733 Depressive disorder Mental Disorders
C0011881 BXGD000760 Diabetic Nephropathy Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
C0013720 BXGD000861 Ehlers-Danlos Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
C0014544 BXGD000926 Epilepsy Nervous System Diseases
C0014547 BXGD000927 Epilepsies, Partial Nervous System Diseases
C0015310 BXGD000976 Exotropia Eye Diseases; Nervous System Diseases
C0015393 BXGD000981 Eye Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0015397 BXGD000983 Disorder of eye Eye Diseases
C0015469 BXGD000996 Facial paralysis Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases
C0015672 BXGD001011 Fatigue Pathological Conditions, Signs and Symptoms
C0017601 BXGD001125 Glaucoma Eye Diseases
C0017636 BXGD001131 Glioblastoma Neoplasms
C0017638 BXGD001132 Glioma Neoplasms
C0017654 BXGD001136 Glomerular Filtration Rate
C0017667 BXGD001142 Nodular glomerulosclerosis Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
C0017668 BXGD001143 Focal glomerulosclerosis Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0018817 BXGD001235 Atrial Septal Defects Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0018965 BXGD001258 Hematuria Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0018989 BXGD001263 Hemiparesis Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0018991 BXGD001264 Hemiplegia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0020255 BXGD001369 Hydrocephalus Nervous System Diseases
C0020538 BXGD001422 Hypertensive disease Cardiovascular Diseases
C0020542 BXGD001425 Pulmonary Hypertension Respiratory Tract Diseases
C0020545 BXGD001427 Hypertension, Renovascular Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases
C0020676 BXGD001462 Hypothyroidism Endocrine System Diseases
C0022578 BXGD001557 Keratoconus Eye Diseases
C0022658 BXGD001570 Kidney Diseases Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0022661 BXGD001572 Kidney Failure, Chronic Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0023508 BXGD001675 White Blood Cell Count procedure
C0023520 BXGD001678 Leukodystrophy Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C0023521 BXGD001679 Globoid cell leukodystrophy Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C0023529 BXGD001682 Leukomalacia, Periventricular Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
C0023531 BXGD001684 Leukoplakia Pathological Conditions, Signs and Symptoms; Neoplasms
C0023893 BXGD001716 Liver Cirrhosis, Experimental Pathological Conditions, Signs and Symptoms; Digestive System Diseases
C0024143 BXGD001741 Lupus Nephritis Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Immune System Diseases
C0024591 BXGD001789 Malignant hyperpyrexia due to anesthesia Pathological Conditions, Signs and Symptoms
C0024623 BXGD001791 Malignant neoplasm of stomach Digestive System Diseases; Neoplasms
C0025202 BXGD001832 melanoma Neoplasms
C0025958 BXGD001882 Microcephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0026010 BXGD001886 Microphthalmos Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0026650 BXGD001913 Movement Disorders Nervous System Diseases
C0026764 BXGD001928 Multiple Myeloma Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
C0026821 BXGD001933 Muscle Cramp Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; 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
C0026848 BXGD001941 Myopathy Musculoskeletal Diseases; Nervous System Diseases
C0026850 BXGD001942 Muscular Dystrophy Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0027051 BXGD001963 Myocardial Infarction Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0027092 BXGD001971 Myopia Eye Diseases
C0027651 BXGD002009 Neoplasms Neoplasms
C0027708 BXGD002025 Nephroblastoma Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0027726 BXGD002030 Nephrotic Syndrome Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0027868 BXGD002053 Neuromuscular Diseases Nervous System Diseases
C0028754 BXGD002082 Obesity Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
C0029124 BXGD002113 Optic Atrophy Eye Diseases; Nervous System Diseases
C0033999 BXGD002448 Pterygium Eye Diseases
C0034372 BXGD002480 Quadriplegia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0034735 BXGD002487 Raynaud Phenomenon Cardiovascular Diseases
C0034935 BXGD002497 Babinski Reflex
C0035305 BXGD002529 Retinal Detachment Eye Diseases
C0035313 BXGD002532 Retinal Dysplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0035317 BXGD002533 Retinal Hemorrhage Pathological Conditions, Signs and Symptoms; Eye Diseases
C0036572 BXGD002625 Seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0037315 BXGD002687 Sleep Apnea Syndromes Respiratory Tract Diseases; Nervous System Diseases
C0037763 BXGD002699 Spasm Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0038454 BXGD002760 Cerebrovascular accident Nervous System Diseases; Cardiovascular Diseases
C0040420 BXGD002861 Tonometry
C0042373 BXGD002978 Vascular Diseases Cardiovascular Diseases
C0042580 BXGD002992 Vesico-Ureteral Reflux Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0042798 BXGD003003 Low Vision Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0086432 BXGD003281 Hyalinosis, Segmental Glomerular Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0086543 BXGD003294 Cataract Eye Diseases
C0149931 BXGD003388 Migraine Disorders Nervous System Diseases
C0151786 BXGD003475 Muscle Weakness Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0151860 BXGD003490 Acquired porencephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0151888 BXGD003497 Hyporeflexia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0151891 BXGD003499 Retinal depigmentation Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases
C0151945 BXGD003508 Thrombosis of cerebral veins Nervous System Diseases; Cardiovascular Diseases
C0152021 BXGD003520 Congenital heart disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0154671 BXGD003726 Degenerative brain disorder Nervous System Diseases
C0155765 BXGD003819 Disease of capillaries Cardiovascular Diseases
C0162671 BXGD003971 MELAS Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
C0162701 BXGD003978 Polysomnography
C0175754 BXGD004015 Agenesis of corpus callosum Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0200637 BXGD004042 Monocyte count procedure
C0202117 BXGD004074 Low density lipoprotein cholesterol measurement
C0202236 BXGD004086 Triglycerides measurement
C0205682 BXGD004105 Waist-Hip Ratio
C0221011 BXGD004362 Malignant Atrophic Papulosis Skin and Connective Tissue Diseases; Cardiovascular Diseases
C0221021 BXGD004368 Microangiopathic hemolytic anemia Hemic and Lymphatic Diseases
C0221163 BXGD004395 Motor Disorders Mental Disorders
C0221355 BXGD004447 Macrocephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0234146 BXGD004626 Absent reflex Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0239234 BXGD004974 Low set ears
C0239946 BXGD005010 Fibrosis, Liver Pathological Conditions, Signs and Symptoms; Digestive System Diseases
C0240063 BXGD005015 Coloboma of iris Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0241005 BXGD005072 Creatine phosphokinase serum increased
C0242183 BXGD005139 Jaundice, Hemolytic Pathological Conditions, Signs and Symptoms
C0242339 BXGD005150 Dyslipidemias Nutritional and Metabolic Diseases
C0242379 BXGD005157 Malignant neoplasm of lung Neoplasms; Respiratory Tract Diseases
C0265216 BXGD005466 X-linked hydrocephalus syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0265221 BXGD005470 Walker-Warburg congenital muscular dystrophy Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
C0265341 BXGD005524 Rieger syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0266435 BXGD005668 Congenital hypoplasia of penis Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0266464 BXGD005676 Polymicrogyria Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0266470 BXGD005678 Cerebellar Hypoplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
C0266483 BXGD005680 Pachygyria Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0266484 BXGD005681 Schizencephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0266525 BXGD005686 Irido-corneal dysgenesis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0266544 BXGD005691 Microcornea Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0266548 BXGD005692 Axenfeld anomaly (disorder) Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0266551 BXGD005693 Congenital coloboma of iris Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0266568 BXGD005695 Persistent Hyperplastic Primary Vitreous Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0268800 BXGD006041 Simple renal cyst Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0270173 BXGD006065 TORCH syndrome Pathological Conditions, Signs and Symptoms
C0270612 BXGD006081 Leukoencephalopathy Nervous System Diseases
C0270726 BXGD006093 Alexander Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C0270790 BXGD006105 Quadriparesis Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0278701 BXGD006566 Gastric Adenocarcinoma Digestive System Diseases; Neoplasms
C0278878 BXGD006609 Adult Glioblastoma Neoplasms
C0280474 BXGD006748 Childhood Glioblastoma Neoplasms
C0302892 BXGD006864 Congenital porencephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0338484 BXGD007188 Familial Hemiplegic Migraine Nervous System Diseases
C0338502 BXGD007192 Hypoplasia of the optic nerve Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
C0338573 BXGD007199 Cerebral venous sinus thrombosis Nervous System Diseases; Cardiovascular Diseases
C0338656 BXGD007211 Impaired cognition Mental Disorders
C0344232 BXGD007659 Blurred vision Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0376358 BXGD007992 Malignant neoplasm of prostate Neoplasms; Male Urogenital Diseases
C0392550 BXGD008054 Hemiplegia, Infantile Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0392885 BXGD008071 High density lipoprotein measurement
C0393591 BXGD008102 AICARDI-GOUTIERES SYNDROME Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases
C0395887 BXGD008172 Tympanosclerosis Otorhinolaryngologic Diseases
C0403440 BXGD008283 Thin basement membrane disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0424574 BXGD008534 Duration of sleep
C0424605 BXGD008535 Developmental delay (disorder) Mental Disorders
C0428472 BXGD008630 Serum HDL cholesterol measurement
C0428474 BXGD008631 Serum LDL cholesterol measurement
C0428974 BXGD008642 Supraventricular arrhythmia Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0428975 BXGD008643 Supraventricular Arrhythmia by ECG Finding
C0431371 BXGD008676 Absence of septum pellucidum Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0431478 BXGD008692 Posteriorly rotated ear
C0431718 BXGD008708 Multiple renal cysts Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0432072 BXGD008718 Dysmorphic features
C0432103 BXGD008722 Submucous cleft of hard palate Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases
C0457133 BXGD008884 Muscle eye brain disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
C0497327 BXGD009061 Dementia Nervous System Diseases; Mental Disorders
C0521707 BXGD009166 Bilateral cataracts (disorder) Eye Diseases
C0541794 BXGD009262 Skeletal muscle atrophy
C0543888 BXGD009300 Epileptic encephalopathy Nervous System Diseases
C0557874 BXGD009444 Global developmental delay
C0599949 BXGD009679 Arterial Stiffness
C0600139 BXGD009695 Prostate carcinoma Neoplasms; Male Urogenital Diseases
C0678222 BXGD009749 Breast Carcinoma Neoplasms; Skin and Connective Tissue Diseases
C0684249 BXGD009790 Carcinoma of lung Neoplasms; Respiratory Tract Diseases
C0687120 BXGD009837 Nephronophthisis Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0699791 BXGD009867 Stomach Carcinoma Digestive System Diseases; Neoplasms
C0699885 BXGD009869 Carcinoma of bladder Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0740279 BXGD009973 Cerebellar atrophy
C0748903 BXGD010206 spinal cord involvement
C0750880 BXGD010239 Monocyte count result
C0751093 BXGD010317 Dystonia, Limb Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0751587 BXGD010513 CADASIL Syndrome Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
C0751651 BXGD010539 Mitochondrial Diseases Nutritional and Metabolic Diseases
C0852949 BXGD010957 Arteriopathic disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0854723 BXGD011026 Retinal Dystrophies Eye Diseases
C0878544 BXGD011368 Cardiomyopathies Cardiovascular Diseases
C0917996 BXGD011425 Cerebral Aneurysm Nervous System Diseases; Cardiovascular Diseases
C0948008 BXGD011499 Ischemic stroke Nervous System Diseases; Cardiovascular Diseases
C1134719 BXGD011688 Invasive Ductal Breast Carcinoma Neoplasms; Skin and Connective Tissue Diseases
C1135196 BXGD011694 Heart Failure, Diastolic Cardiovascular Diseases
C1176475 BXGD011798 Ductal Carcinoma Neoplasms
C1263853 BXGD011898 Paralytic stroke Nervous System Diseases; Mental Disorders; Cardiovascular Diseases
C1263988 BXGD011905 Hemolytic disorder Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases
C1269955 BXGD012005 Tumor Cell Invasion
C1280768 BXGD012127 Axenfeld syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C1306459 BXGD012361 Primary malignant neoplasm Neoplasms
C1306460 BXGD012362 Primary malignant neoplasm of lung Neoplasms; Respiratory Tract Diseases
C1445957 BXGD013081 Serum total cholesterol measurement
C1458155 BXGD013136 Mammary Neoplasms Neoplasms; Skin and Connective Tissue Diseases
C1510586 BXGD013176 Autism Spectrum Disorders Mental Disorders
C1557375 BXGD013360 Blurred Vision, CTCAE
C1561643 BXGD013363 Chronic Kidney Diseases Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C1565489 BXGD013401 Renal Insufficiency Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C1611743 BXGD013456 Familial (FPAH)
C1621958 BXGD013468 Glioblastoma Multiforme Neoplasms
C1691228 BXGD013492 Cystic Kidney Diseases Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C1704436 BXGD013564 Peripheral Arterial Diseases Cardiovascular Diseases
C1838577 BXGD014321 Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
C1843367 BXGD014576 Poor school performance
C1843512 BXGD014592 BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE
C1843517 BXGD014593 Retinal arteriolar tortuosity
C1855285 BXGD015483 Protruding ear
C1857287 BXGD015692 Stroke-like episode Nervous System Diseases; Cardiovascular Diseases
C1858991 BXGD015841 Childhood Ataxia with Central Nervous System Hypomyelinization Nervous System Diseases
C1859726 BXGD015926 ARTERIAL TORTUOSITY SYNDROME Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
C1860475 BXGD015985 Retinal vascular tortuosity
C1861403 BXGD016045 Variable expressivity
C1862389 BXGD016126 ATRIAL SEPTAL DEFECT 1 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C1867327 BXGD016448 RETINAL ARTERIES, TORTUOSITY OF
C1867441 BXGD016455 Pterygium Of Conjunctiva And Cornea Eye Diseases
C1867983 BXGD016479 PORENCEPHALY, FAMILIAL Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C1956346 BXGD016627 Coronary Artery Disease Cardiovascular Diseases
C1968949 BXGD016744 Cakut Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C2316810 BXGD017030 Chronic kidney disease stage 5 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C2673195 BXGD017188 Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
C2675650 BXGD017304 Brain Small Vessel Disease With Axenfeld-Rieger Anomaly
C2678503 BXGD017421 AXENFELD-RIEGER SYNDROME, TYPE 3 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C2733158 BXGD017562 Cerebral Small Vessel Diseases Nervous System Diseases; Cardiovascular Diseases
C2930808 BXGD017896 Familial vascular leukoencephalopathy Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
C2931870 BXGD018086 Familial schizencephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C2937358 BXGD018159 Cerebral Hemorrhage Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases
C2938912 BXGD018165 Hyperintensity of cerebral white matter on MRI Pathological Conditions, Signs and Symptoms
C2938983 BXGD018170 Focal cortical dysplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C3178801 BXGD018538 Stroke, Lacunar Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases
C3281105 BXGD018882 HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO
C3495488 BXGD018987 Axenfeld-Rieger syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C3665346 BXGD019278 Unspecified visual loss Pathological Conditions, Signs and Symptoms; Eye Diseases
C3665347 BXGD019279 Visual Impairment Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C3665386 BXGD019284 Abnormal vision Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C3698507 BXGD019373 Post-traumatic Porencephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C3714756 BXGD019429 Intellectual Disability Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C3714873 BXGD019436 Axenfeld-Rieger Syndrome, Type 1 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C3887499 BXGD019884 Renal cyst Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C3887875 BXGD019923 Visual field defects Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C4013035 BXGD020125 BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES
C4022916 BXGD021037 Abnormal aldolase level
C4024809 BXGD021425 Chorioretinal dysplasia
C4025773 BXGD021784 Aplasia/Hypoplasia involving the skeletal musculature
C4025790 BXGD021791 Specific learning disability
C4049272 BXGD021918 Tumour budding
C4073168 BXGD022057 Abnormal lactate dehydrogenase activity
C4082144 BXGD022081 Metatarsal Valgus Musculoskeletal Diseases
C4082172 BXGD022086 Porencephalic cyst
C4082173 BXGD022087 Porencephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C4082301 BXGD022089 Developmental Porencephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C4476540 BXGD022824 Dilatation of the cerebral artery Nervous System Diseases; Cardiovascular Diseases
C4520843 BXGD023043 Pterygium of eye Eye Diseases
C4551472 BXGD023303 Hypertrophic obstructive cardiomyopathy Cardiovascular Diseases
C4551488 BXGD023314 Bifid uvula
C4551858 BXGD023425 Vesicoureteral Reflux 1 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C4551998 BXGD023472 Porencephaly, Type 1, Autosomal Dominant Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C4553743 BXGD023548 Spasticity, CTCAE
C4707243 BXGD023712 Familial thoracic aortic aneurysm and aortic dissection
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0003705 Chloride 35.45
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