Showing entry for Collagen alpha-1(I) chain


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT005878
Protein NameCollagen alpha-1(I) chain
Uniport IdP02452
GeneCOL1A1
Gene Id1277
DomainCOLFI; Collagen; VWC
Pfam PF01410   PF01391   PF00093  
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 5.1 Immune system hsa04611 Platelet activation
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
Gene Ontology
GO Type GO Id Gene Ontology
Biological Process GO:0007596 blood coagulation
Biological Process GO:0001568 blood vessel development
Biological Process GO:0060346 bone trabecula formation
Biological Process GO:0060351 cartilage development involved in endochondral bone morphogenesis
Biological Process GO:0071230 cellular response to amino acid stimulus
Biological Process GO:0071364 cellular response to epidermal growth factor stimulus
Biological Process GO:0044344 cellular response to fibroblast growth factor stimulus
Biological Process GO:1902618 cellular response to fluoride
Biological Process GO:0071260 cellular response to mechanical stimulus
Biological Process GO:0071300 cellular response to retinoic acid
Biological Process GO:0071560 cellular response to transforming growth factor beta stimulus
Biological Process GO:0071356 cellular response to tumor necrosis factor
Biological Process GO:0071306 cellular response to vitamin E
Biological Process GO:0038063 collagen-activated tyrosine kinase receptor signaling pathway
Biological Process GO:0032964 collagen biosynthetic process
Biological Process GO:0030199 collagen fibril organization
Biological Process GO:0048706 embryonic skeletal system development
Biological Process GO:0001958 endochondral ossification
Biological Process GO:0030198 extracellular matrix organization
Biological Process GO:0060325 face morphogenesis
Biological Process GO:0001957 intramembranous ossification
Biological Process GO:0050900 leukocyte migration
Biological Process GO:0010812 negative regulation of cell-substrate adhesion
Biological Process GO:0001503 ossification
Biological Process GO:0001649 osteoblast differentiation
Biological Process GO:0030168 platelet activation
Biological Process GO:0090263 positive regulation of canonical Wnt signaling pathway
Biological Process GO:0030335 positive regulation of cell migration
Biological Process GO:0010718 positive regulation of epithelial to mesenchymal transition
Biological Process GO:0045893 positive regulation of transcription, DNA-templated
Biological Process GO:0034504 protein localization to nucleus
Biological Process GO:0015031 protein transport
Biological Process GO:0050776 regulation of immune response
Biological Process GO:0051591 response to cAMP
Biological Process GO:0031960 response to corticosteroid
Biological Process GO:0042493 response to drug
Biological Process GO:0032355 response to estradiol
Biological Process GO:0042542 response to hydrogen peroxide
Biological Process GO:0055093 response to hyperoxia
Biological Process GO:0009612 response to mechanical stimulus
Biological Process GO:0043434 response to peptide hormone
Biological Process GO:0007605 sensory perception of sound
Biological Process GO:0001501 skeletal system development
Biological Process GO:0043588 skin development
Biological Process GO:0043589 skin morphogenesis
Biological Process GO:0044691 tooth eruption
Biological Process GO:0034505 tooth mineralization
Biological Process GO:0007601 visual perception
molecular function GO:0005201 extracellular matrix structural constituent
molecular function GO:0030020 extracellular matrix structural constituent conferring tensile strength
molecular function GO:0042802 identical protein binding
molecular function GO:0046872 metal ion binding
molecular function GO:0048407 platelet-derived growth factor binding
molecular function GO:0002020 protease binding
cellular component GO:0062023 collagen-containing extracellular matrix
cellular component GO:0005584 collagen type I trimer
cellular component GO:0005737 cytoplasm
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
cellular component GO:0005794 Golgi apparatus
cellular component GO:0030141 secretory granule
Reactome
Pathway Id Pathway Name
R-HSA-109582 Hemostasis
R-HSA-109582 Hemostasis
R-HSA-114604 GPVI-mediated activation cascade
R-HSA-1280218 Adaptive Immune System
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-168256 Immune System
R-HSA-198933 Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
R-HSA-2022090 Assembly of collagen fibrils and other multimeric structures
R-HSA-202733 Cell surface interactions at the vascular wall
R-HSA-212436 Generic Transcription Pathway
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-3000170 Syndecan interactions
R-HSA-3000171 Non-integrin membrane-ECM interactions
R-HSA-3000171 Non-integrin membrane-ECM interactions
R-HSA-3000178 ECM proteoglycans
R-HSA-3000178 ECM proteoglycans
R-HSA-3000480 Scavenging by Class A Receptors
R-HSA-430116 GP1b-IX-V activation signalling
R-HSA-5653656 Vesicle-mediated transport
R-HSA-6806834 Signaling by MET
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-74160 Gene expression (Transcription)
R-HSA-75892 Platelet Adhesion to exposed collagen
R-HSA-75892 Platelet Adhesion to exposed collagen
R-HSA-76002 Platelet activation, signaling and aggregation
R-HSA-76009 Platelet Aggregation (Plug Formation)
R-HSA-8874081 MET activates PTK2 signaling
R-HSA-8875878 MET promotes cell motility
R-HSA-8878166 Transcriptional regulation by RUNX2
R-HSA-8940973 RUNX2 regulates osteoblast differentiation
R-HSA-8941326 RUNX2 regulates bone development
R-HSA-8948216 Collagen chain trimerization
R-HSA-9006934 Signaling by Receptor Tyrosine Kinases
Target protein-related  diseases
Disease
CUI Id BXGD Id Disease Name Disease Class
C0000786 BXGD000010 Spontaneous abortion Female Urogenital Diseases and Pregnancy Complications
C0000822 BXGD000012 Abortion, Tubal Female Urogenital Diseases and Pregnancy Complications
C0001787 BXGD000076 Osteoporosis, Age-Related Nutritional and Metabolic Diseases; Musculoskeletal Diseases
C0002170 BXGD000105 Alopecia Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
C0002793 BXGD000130 Anaplasia Pathological Conditions, Signs and Symptoms; Neoplasms
C0002940 BXGD000156 Aneurysm Cardiovascular Diseases
C0002949 BXGD000157 Aneurysm, Dissecting Cardiovascular Diseases
C0002991 BXGD000167 Cutaneous Fibrous Histiocytoma Neoplasms
C0003486 BXGD000197 Aortic Aneurysm Cardiovascular Diseases
C0003504 BXGD000202 Aortic Valve Insufficiency Cardiovascular Diseases
C0003537 BXGD000208 Aphasia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0003706 BXGD000215 Arachnodactyly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0003855 BXGD000227 Arteriovenous fistula Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0003862 BXGD000230 Arthralgia Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
C0003864 BXGD000231 Arthritis Musculoskeletal Diseases
C0003872 BXGD000235 Arthritis, Psoriatic Skin and Connective Tissue Diseases; Musculoskeletal Diseases
C0003873 BXGD000236 Rheumatoid Arthritis Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases
C0004045 BXGD000249 Asphyxia Neonatorum Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0004096 BXGD000252 Asthma Respiratory Tract Diseases; Immune System Diseases
C0004238 BXGD000262 Atrial Fibrillation Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0004364 BXGD000270 Autoimmune Diseases Immune System Diseases
C0004763 BXGD000289 Barrett Esophagus Digestive System Diseases; Neoplasms
C0005283 BXGD000308 beta Thalassemia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
C0005398 BXGD000311 Cholestasis, Extrahepatic Digestive System Diseases
C0005694 BXGD000322 Bladder neck obstruction Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0005779 BXGD000336 Blood Coagulation Disorders Hemic and Lymphatic Diseases
C0005940 BXGD000352 Bone Diseases Musculoskeletal Diseases
C0005944 BXGD000355 Metabolic Bone Disorder Nutritional and Metabolic Diseases; Musculoskeletal Diseases
C0005967 BXGD000357 Bone neoplasms Neoplasms; Musculoskeletal Diseases
C0006142 BXGD000374 Malignant neoplasm of breast Neoplasms; Skin and Connective Tissue Diseases
C0006157 BXGD000377 Breech Presentation Female Urogenital Diseases and Pregnancy Complications
C0006625 BXGD000401 Cachexia Pathological Conditions, Signs and Symptoms
C0006663 BXGD000403 Calcinosis Nutritional and Metabolic Diseases
C0006826 BXGD000408 Malignant Neoplasms Neoplasms
C0007102 BXGD000425 Malignant tumor of colon Digestive System Diseases; Neoplasms
C0007112 BXGD000429 Adenocarcinoma of prostate Neoplasms; Male Urogenital Diseases
C0007115 BXGD000432 Malignant neoplasm of thyroid Neoplasms; Endocrine System Diseases
C0007124 BXGD000437 Noninfiltrating Intraductal Carcinoma Neoplasms
C0007131 BXGD000441 Non-Small Cell Lung Carcinoma Neoplasms; Respiratory Tract Diseases
C0007194 BXGD000452 Hypertrophic Cardiomyopathy Cardiovascular Diseases
C0007642 BXGD000469 Cellulitis Pathological Conditions, Signs and Symptoms; Infections; Skin and Connective Tissue Diseases
C0008060 BXGD000516 child abuse behavior
C0008311 BXGD000526 Cholangitis Digestive System Diseases
C0008312 BXGD000527 Primary biliary cirrhosis Pathological Conditions, Signs and Symptoms; Digestive System Diseases
C0008370 BXGD000534 Cholestasis Digestive System Diseases
C0008767 BXGD000570 Cicatrization Pathological Conditions, Signs and Symptoms
C0009081 BXGD000581 Congenital clubfoot Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0009326 BXGD000598 Collagen Diseases Skin and Connective Tissue Diseases
C0009402 BXGD000605 Colorectal Carcinoma Digestive System Diseases; Neoplasms
C0009782 BXGD000631 Connective Tissue Diseases Skin and Connective Tissue Diseases
C0009917 BXGD000635 Contracture Musculoskeletal Diseases
C0010036 BXGD000642 Corneal dystrophy Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0010068 BXGD000648 Coronary heart disease Cardiovascular Diseases
C0010346 BXGD000664 Crohn Disease Digestive System Diseases
C0011330 BXGD000715 Dental Calculus Pathological Conditions, Signs and Symptoms; Stomatognathic Diseases
C0011436 BXGD000726 Dentinogenesis Imperfecta Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
C0011644 BXGD000744 Scleroderma Skin and Connective Tissue Diseases
C0011847 BXGD000749 Diabetes Endocrine System Diseases
C0011849 BXGD000751 Diabetes Mellitus Nutritional and Metabolic Diseases; Endocrine System Diseases
C0011854 BXGD000753 Diabetes Mellitus, Insulin-Dependent Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases
C0011860 BXGD000755 Diabetes Mellitus, Non-Insulin-Dependent Nutritional and Metabolic Diseases; Endocrine System Diseases
C0011881 BXGD000760 Diabetic Nephropathy Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
C0012819 BXGD000794 Diverticular disease of colon Digestive System Diseases
C0013336 BXGD000815 Dwarfism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
C0013528 BXGD000851 Echolalia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0013581 BXGD000855 Ectopia Lentis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0013595 BXGD000858 Eczema Skin and Connective Tissue Diseases
C0013720 BXGD000861 Ehlers-Danlos Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
C0013990 BXGD000874 Pathological accumulation of air in tissues Pathological Conditions, Signs and Symptoms
C0014175 BXGD000904 Endometriosis Female Urogenital Diseases and Pregnancy Complications
C0014544 BXGD000926 Epilepsy Nervous System Diseases
C0014772 BXGD000948 Red Blood Cell Count measurement
C0015300 BXGD000973 Exophthalmos Eye Diseases
C0015672 BXGD001011 Fatigue Pathological Conditions, Signs and Symptoms
C0015967 BXGD001030 Fever Pathological Conditions, Signs and Symptoms
C0016057 BXGD001042 Fibrosarcoma Neoplasms
C0016059 BXGD001043 Fibrosis Pathological Conditions, Signs and Symptoms
C0016202 BXGD001050 Flatfoot Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0016663 BXGD001071 Pathological fracture Wounds and Injuries
C0017601 BXGD001125 Glaucoma Eye Diseases
C0017605 BXGD001126 Angle Closure Glaucoma Eye Diseases
C0017606 BXGD001127 Primary angle-closure glaucoma Eye Diseases
C0017668 BXGD001143 Focal glomerulosclerosis Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0018777 BXGD001217 Conductive hearing loss Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C0018802 BXGD001227 Congestive heart failure Cardiovascular Diseases
C0018817 BXGD001235 Atrial Septal Defects Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0018824 BXGD001237 Heart valve disease Cardiovascular Diseases
C0019288 BXGD001313 Hernia, Femoral Pathological Conditions, Signs and Symptoms
C0019294 BXGD001314 Hernia, Inguinal Pathological Conditions, Signs and Symptoms
C0019326 BXGD001318 Ventral Hernia Pathological Conditions, Signs and Symptoms
C0019555 BXGD001334 Hip Dislocation, Congenital Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Wounds and Injuries
C0020453 BXGD001390 Hyperesthesia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0020497 BXGD001406 Cortical Congenital Hyperostosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0020534 BXGD001421 Orbital separation excessive Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0020538 BXGD001422 Hypertensive disease Cardiovascular Diseases
C0020542 BXGD001425 Pulmonary Hypertension Respiratory Tract Diseases
C0020649 BXGD001459 Hypotension Cardiovascular Diseases
C0021390 BXGD001503 Inflammatory Bowel Diseases Digestive System Diseases
C0022408 BXGD001544 Arthropathy Musculoskeletal Diseases
C0022548 BXGD001551 Keloid Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
C0022661 BXGD001572 Kidney Failure, Chronic Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0022821 BXGD001590 Kyphosis deformity of spine Musculoskeletal Diseases
C0023234 BXGD001622 Legg-Calve-Perthes Disease Musculoskeletal Diseases
C0023267 BXGD001626 Fibroid Tumor Neoplasms
C0023269 BXGD001627 leiomyosarcoma Neoplasms
C0023283 BXGD001629 Leishmaniasis, Cutaneous Infections; Skin and Connective Tissue Diseases
C0023508 BXGD001675 White Blood Cell Count procedure
C0023890 BXGD001713 Liver Cirrhosis Pathological Conditions, Signs and Symptoms; Digestive System Diseases
C0023892 BXGD001715 Biliary cirrhosis Pathological Conditions, Signs and Symptoms; Digestive System Diseases
C0023893 BXGD001716 Liver Cirrhosis, Experimental Pathological Conditions, Signs and Symptoms; Digestive System Diseases
C0023931 BXGD001722 Lobstein Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
C0024003 BXGD001726 Lordosis Musculoskeletal Diseases
C0024117 BXGD001734 Chronic Obstructive Airway Disease Respiratory Tract Diseases
C0024143 BXGD001741 Lupus Nephritis Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Immune System Diseases
C0024623 BXGD001791 Malignant neoplasm of stomach Digestive System Diseases; Neoplasms
C0024636 BXGD001793 Malocclusion Stomatognathic Diseases
C0024796 BXGD001806 Marfan Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
C0024894 BXGD001810 Mastitis Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases
C0025990 BXGD001884 Micrognathism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
C0026267 BXGD001896 Mitral Valve Prolapse Syndrome Cardiovascular Diseases
C0026764 BXGD001928 Multiple Myeloma Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
C0026825 BXGD001934 Flaccid Muscle Tone Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0026827 BXGD001936 Muscle hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0026884 BXGD001945 Mutism Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders
C0027051 BXGD001963 Myocardial Infarction Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0027092 BXGD001971 Myopia Eye Diseases
C0027122 BXGD001974 Myositis Ossificans Musculoskeletal Diseases
C0027627 BXGD002006 Neoplasm Metastasis Pathological Conditions, Signs and Symptoms; Neoplasms
C0027651 BXGD002009 Neoplasms Neoplasms
C0027719 BXGD002027 Nephrosclerosis Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0027726 BXGD002030 Nephrotic Syndrome Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0028259 BXGD002073 Nodule
C0028754 BXGD002082 Obesity Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
C0029118 BXGD002111 Opportunistic Infections Infections
C0029172 BXGD002120 Oral Submucous Fibrosis Stomatognathic Diseases
C0029408 BXGD002137 Degenerative polyarthritis Musculoskeletal Diseases
C0029410 BXGD002138 Osteoarthritis of hip Musculoskeletal Diseases
C0029422 BXGD002142 Osteochondrodysplasias Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0029434 BXGD002146 Osteogenesis Imperfecta Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
C0029453 BXGD002154 Osteopenia Nutritional and Metabolic Diseases; Musculoskeletal Diseases
C0029456 BXGD002157 Osteoporosis Nutritional and Metabolic Diseases; Musculoskeletal Diseases
C0029458 BXGD002158 Osteoporosis, Postmenopausal Nutritional and Metabolic Diseases; Musculoskeletal Diseases
C0029459 BXGD002159 Osteoporosis, Senile Nutritional and Metabolic Diseases; Musculoskeletal Diseases
C0029463 BXGD002160 Osteosarcoma Neoplasms
C0029464 BXGD002161 Osteosclerosis Musculoskeletal Diseases
C0029866 BXGD002174 Other ureteric obstruction Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0029899 BXGD002180 Otosclerosis Otorhinolaryngologic Diseases
C0031030 BXGD002272 Periapical Periodontitis Stomatognathic Diseases
C0032181 BXGD002332 Platelet Count measurement
C0032209 BXGD002334 Platybasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0032326 BXGD002351 Pneumothorax Respiratory Tract Diseases
C0033377 BXGD002406 Ptosis Pathological Conditions, Signs and Symptoms
C0034013 BXGD002450 Precocious Puberty Endocrine System Diseases
C0034069 BXGD002458 Pulmonary Fibrosis Respiratory Tract Diseases
C0034088 BXGD002461 Pulmonary Valve Insufficiency Cardiovascular Diseases
C0035229 BXGD002516 Respiratory Insufficiency Respiratory Tract Diseases
C0035305 BXGD002529 Retinal Detachment Eye Diseases
C0036202 BXGD002581 Sarcoidosis Hemic and Lymphatic Diseases
C0036329 BXGD002596 Schistosomiasis japonica Infections
C0036421 BXGD002613 Systemic Scleroderma Skin and Connective Tissue Diseases
C0036439 BXGD002615 Scoliosis, unspecified Musculoskeletal Diseases
C0037286 BXGD002681 Skin Neoplasms Neoplasms; Skin and Connective Tissue Diseases
C0037299 BXGD002685 Skin Ulcer Skin and Connective Tissue Diseases
C0039144 BXGD002796 Syringomyelia Nervous System Diseases
C0039516 BXGD002817 Tennis Elbow Musculoskeletal Diseases; Wounds and Injuries
C0040136 BXGD002845 Thyroid Neoplasm Neoplasms; Endocrine System Diseases
C0040962 BXGD002892 Tricuspid Valve Prolapse Cardiovascular Diseases
C0041834 BXGD002935 Erythema Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
C0041956 BXGD002942 Ureteral obstruction Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0042024 BXGD002949 Urinary Incontinence Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0042025 BXGD002950 Urinary Stress Incontinence Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0042109 BXGD002957 Urticaria Skin and Connective Tissue Diseases; Immune System Diseases
C0042133 BXGD002960 Uterine Fibroids Neoplasms
C0042138 BXGD002962 Uterine Neoplasms Neoplasms; Female Urogenital Diseases and Pregnancy Complications
C0042485 BXGD002985 Venous Insufficiency Cardiovascular Diseases
C0079294 BXGD003070 Epidermolysis Bullosa Dystrophica Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
C0080174 BXGD003106 Spina Bifida Occulta Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0085119 BXGD003127 Foot Ulcer Skin and Connective Tissue Diseases
C0085179 BXGD003138 Eosinophilia-Myalgia Syndrome Musculoskeletal Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
C0086437 BXGD003282 Joint laxity Musculoskeletal Diseases
C0149521 BXGD003328 Pancreatitis, Chronic Digestive System Diseases
C0149721 BXGD003349 Left Ventricular Hypertrophy Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0149931 BXGD003388 Migraine Disorders Nervous System Diseases
C0151526 BXGD003432 Premature Birth Female Urogenital Diseases and Pregnancy Complications
C0151669 BXGD003457 Increased antibody level in blood
C0151786 BXGD003475 Muscle Weakness Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0151811 BXGD003478 Subcutaneous nodule Neoplasms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
C0152013 BXGD003516 Adenocarcinoma of lung (disorder) Neoplasms
C0152093 BXGD003536 Hypermobility syndrome Skin and Connective Tissue Diseases; Musculoskeletal Diseases
C0152244 BXGD003571 Bone Cysts, Aneurysmal Neoplasms; Musculoskeletal Diseases
C0152459 BXGD003600 Linear atrophy Pathological Conditions, Signs and Symptoms
C0153676 BXGD003679 Secondary malignant neoplasm of lung Neoplasms; Respiratory Tract Diseases
C0155626 BXGD003806 Acute myocardial infarction Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0158252 BXGD003877 Intervertebral disc disorder Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
C0158266 BXGD003878 Intervertebral Disc Degeneration Musculoskeletal Diseases
C0158447 BXGD003885 Idiopathic osteoporosis Nutritional and Metabolic Diseases; Musculoskeletal Diseases
C0158713 BXGD003901 Bilateral congenital dislocation of hip Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0158731 BXGD003902 Congenital pectus carinatum Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
C0162154 BXGD003922 Atrophic scar Pathological Conditions, Signs and Symptoms
C0162298 BXGD003933 Joint stiffness Musculoskeletal Diseases
C0162810 BXGD003982 Cicatrix, Hypertrophic Pathological Conditions, Signs and Symptoms
C0175693 BXGD004001 Russell-Silver syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0178874 BXGD004037 Tumor Progression Pathological Conditions, Signs and Symptoms
C0200633 BXGD004040 Neutrophil count (procedure)
C0200637 BXGD004042 Monocyte count procedure
C0200638 BXGD004043 Eosinophil count procedure
C0200641 BXGD004044 Blood basophil count (lab test)
C0200665 BXGD004045 Platelet mean volume determination (procedure)
C0206647 BXGD004212 Dermatofibrosarcoma Neoplasms
C0220668 BXGD004317 Congenital contractural arachnodactyly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0220679 BXGD004319 Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
C0221271 BXGD004431 Elastosis perforans serpiginosa Skin and Connective Tissue Diseases
C0221347 BXGD004442 Acrocyanosis Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Respiratory Tract Diseases; Cardiovascular Diseases
C0221354 BXGD004446 Frontal bossing Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0221775 BXGD004480 Lumbar disc disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
C0221777 BXGD004482 Nontoxic goiter Endocrine System Diseases
C0231528 BXGD004496 Myalgia Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0233514 BXGD004584 Abnormal behavior Behavior and Behavior Mechanisms
C0234428 BXGD004666 Disturbance of consciousness
C0235833 BXGD004775 Congenital diaphragmatic hernia Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0235974 BXGD004796 Pancreatic carcinoma Digestive System Diseases; Neoplasms; Endocrine System Diseases
C0235991 BXGD004802 Small for gestational age (disorder) Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications
C0238461 BXGD004936 Anaplastic thyroid carcinoma Neoplasms
C0238463 BXGD004938 Papillary thyroid carcinoma Neoplasms; Endocrine System Diseases
C0239137 BXGD004965 Coxa valga Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
C0239138 BXGD004966 Hip joint varus deformity - observation Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
C0239946 BXGD005010 Fibrosis, Liver Pathological Conditions, Signs and Symptoms; Digestive System Diseases
C0240231 BXGD005026 Fractures of the long bones Wounds and Injuries
C0240340 BXGD005031 Microdontia (disorder) Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
C0240538 BXGD005041 Convex nasal ridge
C0241074 BXGD005078 Hyperextensible skin
C0241144 BXGD005080 Petechiae of skin Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases
C0241165 BXGD005083 Thick skin
C0241181 BXGD005084 Fragile skin
C0242379 BXGD005157 Malignant neoplasm of lung Neoplasms; Respiratory Tract Diseases
C0259779 BXGD005218 Fibrous Dysplasia
C0262361 BXGD005229 Growth abnormality
C0263628 BXGD005334 Tumoral calcinosis Nutritional and Metabolic Diseases
C0263874 BXGD005352 Degeneration of lumbar intervertebral disc Musculoskeletal Diseases
C0265301 BXGD005508 Sclerosteosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0265333 BXGD005519 Tricho-dento-osseous syndrome (disorder) Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases
C0265341 BXGD005524 Rieger syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0266061 BXGD005618 Open Bite Stomatognathic Diseases
C0266544 BXGD005691 Microcornea Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0266929 BXGD005722 Chronic Periodontitis Stomatognathic Diseases
C0267602 BXGD005762 Descending perineum syndrome Digestive System Diseases
C0267952 BXGD005794 Fibrosis of pancreas Digestive System Diseases
C0268338 BXGD005902 Ehlers-Danlos Syndrome, Type IV Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
C0268345 BXGD005906 EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
C0268358 BXGD005913 Osteogenesis imperfecta, dominant perinatal lethal Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
C0268360 BXGD005914 Osteogenesis imperfecta, recessive perinatal lethal Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
C0268362 BXGD005915 Osteogenesis imperfecta type III (disorder) Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
C0268363 BXGD005916 Osteogenesis imperfecta type IV (disorder)
C0271183 BXGD006169 Severe myopia Eye Diseases
C0278595 BXGD006545 Adult Fibrosarcoma Neoplasms
C0278601 BXGD006547 Inflammatory Breast Carcinoma Neoplasms; Skin and Connective Tissue Diseases
C0278607 BXGD006548 Adult Leiomyosarcoma Neoplasms
C0279626 BXGD006657 Squamous cell carcinoma of esophagus Digestive System Diseases; Neoplasms
C0279986 BXGD006705 Childhood Leiomyosarcoma Neoplasms
C0280781 BXGD006758 Adult Pilocytic Astrocytoma Neoplasms
C0302511 BXGD006849 Small for gestational age fetus Pathological Conditions, Signs and Symptoms
C0332563 BXGD006894 Papule Pathological Conditions, Signs and Symptoms
C0332878 BXGD006904 Congenital contracture Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0334459 BXGD007074 Infantile fibrosarcoma Neoplasms
C0334463 BXGD007076 Malignant Fibrous Histiocytoma Neoplasms
C0334464 BXGD007077 Pigmented Dermatofibrosarcoma Protuberans (Bednar Tumor) Neoplasms
C0334579 BXGD007120 Anaplastic astrocytoma Neoplasms
C0334583 BXGD007124 Pilocytic Astrocytoma Neoplasms
C0338656 BXGD007211 Impaired cognition Mental Disorders
C0339573 BXGD007271 Glaucoma, Primary Open Angle Eye Diseases
C0340643 BXGD007357 Dissection of aorta Cardiovascular Diseases
C0341539 BXGD007414 Parastomal hernia Pathological Conditions, Signs and Symptoms
C0344530 BXGD007688 Congenital keratoglobus Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0346647 BXGD007832 Malignant neoplasm of pancreas Digestive System Diseases; Neoplasms; Endocrine System Diseases
C0349588 BXGD007933 Short stature
C0376358 BXGD007992 Malignant neoplasm of prostate Neoplasms; Male Urogenital Diseases
C0392784 BXGD008069 Dermatofibrosarcoma Protuberans Neoplasms
C0400966 BXGD008266 Non-alcoholic Fatty Liver Disease Digestive System Diseases
C0406500 BXGD008347 Lipodermatosclerosis Skin and Connective Tissue Diseases
C0409495 BXGD008387 Protrusio acetabuli
C0409952 BXGD008399 Idiopathic osteoarthritis Musculoskeletal Diseases
C0410000 BXGD008406 Overlap syndrome Skin and Connective Tissue Diseases; Immune System Diseases
C0410005 BXGD008407 Nodular fasciitis Neoplasms; Musculoskeletal Diseases; Nervous System Diseases
C0410528 BXGD008430 Skeletal dysplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0410787 BXGD008450 Hereditary Connective Tissue Disorder Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
C0410935 BXGD008453 Wide cranial sutures
C0423110 BXGD008471 Downward slant of palpebral fissure
C0423757 BXGD008504 Thin skin
C0423798 BXGD008510 Increased tendency to bruise Wounds and Injuries
C0426790 BXGD008577 Narrow thorax
C0426824 BXGD008588 Beading of ribs
C0427460 BXGD008616 Red cell distribution width determination
C0431128 BXGD008664 Papillary craniopharyngioma Neoplasms
C0432072 BXGD008718 Dysmorphic features
C0432253 BXGD008756 Bruck syndrome
C0432363 BXGD008783 Shagreen patch Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
C0455988 BXGD008860 Hydrops Fetalis, Non-Immune Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases
C0456132 BXGD008869 Large fontanelle
C0497552 BXGD009067 Congenital neurologic anomalies Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0520739 BXGD009106 Hereditary pyropoikilocytosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
C0521170 BXGD009131 Osteoporotic Fractures Wounds and Injuries
C0521174 BXGD009133 Microcalcification Nutritional and Metabolic Diseases
C0524587 BXGD009232 Mean Corpuscular Volume (result)
C0542514 BXGD009277 Blue sclera Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0549473 BXGD009384 Thyroid carcinoma Neoplasms; Endocrine System Diseases
C0565599 BXGD009488 Maternal hypertension Female Urogenital Diseases and Pregnancy Complications; Cardiovascular Diseases
C0575484 BXGD009517 Long thorax
C0585442 BXGD009593 Osteosarcoma of bone Neoplasms
C0596263 BXGD009639 Carcinogenesis Pathological Conditions, Signs and Symptoms; Neoplasms
C0600139 BXGD009695 Prostate carcinoma Neoplasms; Male Urogenital Diseases
C0677607 BXGD009721 Hashimoto Disease Endocrine System Diseases
C0678222 BXGD009749 Breast Carcinoma Neoplasms; Skin and Connective Tissue Diseases
C0678230 BXGD009750 Congenital Epicanthus
C0684249 BXGD009790 Carcinoma of lung Neoplasms; Respiratory Tract Diseases
C0684516 BXGD009799 Benign bone neoplasm Neoplasms; Musculoskeletal Diseases
C0686619 BXGD009835 Secondary malignant neoplasm of lymph node Pathological Conditions, Signs and Symptoms; Neoplasms
C0699790 BXGD009866 Colon Carcinoma Digestive System Diseases; Neoplasms
C0699791 BXGD009867 Stomach Carcinoma Digestive System Diseases; Neoplasms
C0740394 BXGD009989 Hyperuricemia Pathological Conditions, Signs and Symptoms
C0740404 BXGD009991 Limb defects
C0740457 BXGD010000 Malignant neoplasm of kidney Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0750880 BXGD010239 Monocyte count result
C0751265 BXGD010370 Learning Disabilities Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders
C0751406 BXGD010428 Post-Traumatic Osteoporosis Nutritional and Metabolic Diseases; Musculoskeletal Diseases
C0751435 BXGD010440 Hyperphenylalaninaemia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C0848548 BXGD010881 hypertensive nephropathy Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases
C0856169 BXGD011096 Endothelial dysfunction
C0856747 BXGD011112 Aneurysm of ascending aorta Respiratory Tract Diseases; Cardiovascular Diseases
C0857379 BXGD011148 Abnormality of the pinna
C0877015 BXGD011327 Pelvic Organ Prolapse Pathological Conditions, Signs and Symptoms
C0878544 BXGD011368 Cardiomyopathies Cardiovascular Diseases
C0878638 BXGD011378 Abnormality of the tongue
C0878659 BXGD011380 Disproportionate short stature Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
C0973461 BXGD011595 Dysphasia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1258104 BXGD011823 Diffuse Scleroderma Skin and Connective Tissue Diseases
C1261473 BXGD011855 Sarcoma Neoplasms
C1269955 BXGD012005 Tumor Cell Invasion
C1275122 BXGD012060 Familial multiple trichoepitheliomata Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases
C1275239 BXGD012070 Dermatomyofibroma
C1290344 BXGD012183 Nonspecific interstitial pneumonia Respiratory Tract Diseases
C1304746 BXGD012343 RDW - Red blood cell distribution width result
C1306459 BXGD012361 Primary malignant neoplasm Neoplasms
C1306460 BXGD012362 Primary malignant neoplasm of lung Neoplasms; Respiratory Tract Diseases
C1306503 BXGD012363 Congenital exomphalos Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C1306710 BXGD012372 Facial asymmetry Pathological Conditions, Signs and Symptoms
C1328407 BXGD012465 Hip Dysplasia Musculoskeletal Diseases; Wounds and Injuries
C1332986 BXGD012574 Childhood Osteosarcoma Neoplasms
C1332995 BXGD012575 Childhood Pilocytic Astrocytoma Neoplasms
C1333419 BXGD012624 Liver and Intrahepatic Bile Duct Epithelial Neoplasm
C1333976 BXGD012662 Liver and Intrahepatic Bile Duct Neoplasm Digestive System Diseases
C1335302 BXGD012775 Pancreatic Ductal Adenocarcinoma Digestive System Diseases; Neoplasms; Endocrine System Diseases
C1378703 BXGD012933 Renal carcinoma Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C1384666 BXGD012948 hearing impairment Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C1390474 BXGD012969 Increased susceptibility to fractures
C1394142 BXGD012981 Cortical hyperostosis
C1397307 BXGD012996 Cardiac fibrosis
C1442965 BXGD013064 Avascular necrosis of the capital femoral epiphysis Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
C1458140 BXGD013134 Bleeding tendency Hemic and Lymphatic Diseases
C1458155 BXGD013136 Mammary Neoplasms Neoplasms; Skin and Connective Tissue Diseases
C1510475 BXGD013171 Diverticulosis Pathological Conditions, Signs and Symptoms; Digestive System Diseases
C1519086 BXGD013230 Pilomyxoid astrocytoma Neoplasms
C1519353 BXGD013236 Skin Papule Skin and Connective Tissue Diseases
C1533041 BXGD013307 Primary congenital glaucoma Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
C1535939 BXGD013323 Pneumocystis jiroveci pneumonia Infections; Respiratory Tract Diseases
C1568272 BXGD013421 Tendinopathy Musculoskeletal Diseases; Wounds and Injuries
C1619692 BXGD013458 Nephrogenic Fibrosing Dermopathy Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
C1623038 BXGD013475 Cirrhosis Pathological Conditions, Signs and Symptoms
C1707508 BXGD013588 Conventional Dermatofibrosarcoma Protuberans
C1800706 BXGD013755 Idiopathic Pulmonary Fibrosis Respiratory Tract Diseases
C1832661 BXGD013866 ANOPHTHALMIA AND PULMONARY HYPOPLASIA Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases
C1833144 BXGD013898 Slender long bone
C1833736 BXGD013941 Osteogenesis imperfecta, Levin type Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
C1833753 BXGD013943 Biconcave flattened vertebrae
C1833754 BXGD013944 Femoral bowing present at birth, straightening with time
C1833762 BXGD013945 Decreased calvarial ossification
C1834345 BXGD013968 Periosteal thickening of long tubular bones
C1835121 BXGD014013 Premature osteoarthritis Musculoskeletal Diseases
C1835884 BXGD014061 Triangular face
C1836542 BXGD014129 Depressed nasal bridge
C1837081 BXGD014193 Tibial bowing Musculoskeletal Diseases
C1837260 BXGD014214 Prominent forehead
C1837402 BXGD014228 Flat occiput
C1837404 BXGD014229 High, narrow palate
C1837463 BXGD014235 Narrow face
C1837658 BXGD014257 Gross motor development delay Mental Disorders
C1840077 BXGD014434 Anteverted nostril
C1842090 BXGD014495 Platelet Glycoprotein IV Deficiency Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
C1843366 BXGD014575 NIEMANN-PICK DISEASE, TYPE C2 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
C1844592 BXGD014649 Soft skin
C1844704 BXGD014665 Platyspondyly
C1844820 BXGD014681 Range of joint movement increased
C1846545 BXGD014824 Autoimmune Lymphoproliferative Syndrome Type 2B Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
C1849089 BXGD015004 Broad forehead
C1849367 BXGD015046 Nasal bridge wide
C1849937 BXGD015091 Disproportionate short-limb short stature
C1850171 BXGD015120 Neonatal short-limb short stature
C1850178 BXGD015121 Bowing of limbs due to multiple fractures
C1851789 BXGD015233 Poor wound healing
C1851801 BXGD015236 EDS VIIB Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
C1852924 BXGD015297 OI-EDS Combined Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
C1853171 BXGD015310 Multiple prenatal fractures
C1853242 BXGD015322 Midface retrusion
C1856087 BXGD015571 Biconcave vertebral bodies
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
C1857486 BXGD015710 Low-set, posteriorly rotated ears
C1858085 BXGD015770 Malar flattening
C1858120 BXGD015774 Generalized hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1858556 BXGD015805 OVERLAP CONNECTIVE TISSUE DISEASE Eye Diseases; Skin and Connective Tissue Diseases; Cardiovascular Diseases
C1858732 BXGD015826 Malar prominence
C1859069 BXGD015848 Brittle Bone Disorder Musculoskeletal Diseases
C1859443 BXGD015891 Severe generalized osteoporosis
C1859461 BXGD015895 Femoral bowing Musculoskeletal Diseases
C1860245 BXGD015972 Cranial asymmetry
C1861922 BXGD016094 CAMPOMELIC DYSPLASIA Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C1863351 BXGD016167 Calvarial hyperostosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C1866134 BXGD016378 Wide anterior fontanel
C1866730 BXGD016419 Rhizomelia
C1867114 BXGD016439 Craniofacial disproportion
C1868684 BXGD016527 EAR, PATELLA, SHORT STATURE SYNDROME Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases
C1969372 BXGD016775 Tubulointerstitial fibrosis
C1970497 BXGD016841 Crumpled long bones
C2239176 BXGD016965 Liver carcinoma Digestive System Diseases; Neoplasms
C2316810 BXGD017030 Chronic kidney disease stage 5 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C2674432 BXGD017246 Reduced bone mineral density
C2674608 BXGD017250 Feeding difficulties in infancy
C2750440 BXGD017660 FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 1
C2750441 BXGD017661 LIVER DISEASE, ALCOHOLIC, SUSCEPTIBILITY TO, 1
C2919142 BXGD017867 Short Stature, CTCAE
C2931093 BXGD017956 Osteogenesis imperfecta, type 5 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
C2931822 BXGD018068 Nasopharyngeal carcinoma Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases
C2938924 BXGD018167 Oestrogen receptor positive breast cancer
C2939419 BXGD018178 Secondary Neoplasm Pathological Conditions, Signs and Symptoms; Neoplasms
C2973725 BXGD018205 Pulmonary arterial hypertension Respiratory Tract Diseases; Cardiovascular Diseases
C3150077 BXGD018291 Mild short stature
C3150651 BXGD018316 FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 2
C3160718 BXGD018468 PARKINSON DISEASE, LATE-ONSET
C3203102 BXGD018555 Idiopathic pulmonary arterial hypertension Respiratory Tract Diseases
C3241937 BXGD018578 Nonalcoholic Steatohepatitis Digestive System Diseases
C3489393 BXGD018928 Hiatal Hernia Pathological Conditions, Signs and Symptoms
C3494422 BXGD018966 Retrognathia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
C3495489 BXGD018988 Rieger eye malformation sequence Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C3553764 BXGD019187 Joint hyperflexibility
C3665444 BXGD019288 Neutrophilia (disorder) Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases
C3665732 BXGD019301 Metastatic Dermatofibrosarcoma Protuberans Neoplasms
C3693482 BXGD019337 Giant Cell Fibroblastoma Neoplasms
C3711383 BXGD019388 Early-Onset Glaucoma Eye Diseases
C3714636 BXGD019421 Pneumonitis Infections; Respiratory Tract Diseases
C3714756 BXGD019429 Intellectual Disability Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C3805574 BXGD019481 Increased fracture rate
C3830362 BXGD019751 Early Pregnancy Loss Female Urogenital Diseases and Pregnancy Complications
C3840085 BXGD019794 Disorder of Achilles tendon
C3874346 BXGD019864 Skeletal malocclusion Stomatognathic Diseases
C3887531 BXGD019895 Keratoglobus
C3899646 BXGD020088 Childhood Pilomyxoid Astrocytoma
C4015948 BXGD020248 OSTEOGENESIS IMPERFECTA, TYPE III/IV
C4015949 BXGD020249 OSTEOGENESIS IMPERFECTA, TYPE IIC
C4015950 BXGD020250 OSTEOGENESIS IMPERFECTA, TYPE I, MILD
C4015951 BXGD020251 BONE MINERAL DENSITY VARIATION QUANTITATIVE TRAIT LOCUS
C4020847 BXGD020486 Abnormality of pelvic girdle bone morphology
C4021629 BXGD020705 Absent ossification of calvaria
C4021630 BXGD020706 Broad long bones
C4021786 BXGD020779 Atypical scarring of skin Pathological Conditions, Signs and Symptoms
C4021797 BXGD020787 Abnormality of the thorax
C4021816 BXGD020802 Abnormality of the gingiva
C4021962 BXGD020843 Genital hernia Pathological Conditions, Signs and Symptoms
C4021986 BXGD020858 Hypoplasia of the ear cartilage
C4023909 BXGD021272 Aplasia/Hypoplasia of the abdominal wall musculature
C4024202 BXGD021303 Reduced number of teeth
C4025133 BXGD021563 Cortical thickening of long bone diaphyses
C4025145 BXGD021566 Cortical irregularity
C4025252 BXGD021607 Abnormal nasal morphology
C4025813 BXGD021805 Abnormality of subcutaneous fat tissue
C4277533 BXGD022374 Dissection, Blood Vessel Cardiovascular Diseases
C4528257 BXGD023159 Corpuscular Hemoglobin Concentration Mean
C4529962 BXGD023178 Fatty Liver Disease
C4538407 BXGD023220 EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
C4551623 BXGD023370 EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
C4551649 BXGD023382 Congenital Dysplasia Of The Hip Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C4551686 BXGD023391 Malignant neoplasm of soft tissue Neoplasms
C4552122 BXGD023489 EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
C4552766 BXGD023523 Miscarriage Female Urogenital Diseases and Pregnancy Complications
C4707243 BXGD023712 Familial thoracic aortic aneurysm and aortic dissection
C4707450 BXGD023716 Ring chromosome 5 syndrome
C4721413 BXGD023737 Juvenile angiofibroma Neoplasms; Cardiovascular Diseases
C4721610 BXGD023760 Carcinoma, Ovarian Epithelial Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
C4722085 BXGD023788 Malignant neoplasm of colon and/or rectum
C4733092 BXGD023907 estrogen receptor-negative breast cancer
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0000436 Glycerol 92.09
BXGC0002586 Calcium 40.08
BXGC0003705 Chloride 35.45
BXGC0004275 Acetaldehyde 44.05
BXGC0025746 Hydroxyproline 131.06
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