Showing entry for Structural maintenance of chromosomes protein 1A


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT013500
Protein NameStructural maintenance of chromosomes protein 1A
Uniport IdQ14683
GeneSMC1A
Gene Id8243
DomainSMC_hinge; SMC_N
Pfam PF06470   PF02463  
OrganismHomo sapiens (Human)
Target protein  affiliated  biological  pathways
KEGG
Class Subclass KEGG Id Pathway Name
4. Cellular Processes 4.2 Cell growth and death hsa04110 Cell cycle
4. Cellular Processes 4.2 Cell growth and death hsa04114 Oocyte meiosis
Gene Ontology
GO Type GO Id Gene Ontology
Biological Process GO:0051301 cell division
Biological Process GO:0006281 DNA repair
Biological Process GO:0051321 meiotic cell cycle
Biological Process GO:0007064 mitotic sister chromatid cohesion
Biological Process GO:0000070 mitotic sister chromatid segregation
Biological Process GO:0090307 mitotic spindle assembly
Biological Process GO:0072423 response to DNA damage checkpoint signaling
Biological Process GO:0009314 response to radiation
Biological Process GO:0007062 sister chromatid cohesion
Biological Process GO:0019827 stem cell population maintenance
molecular function GO:0005524 ATP binding
molecular function GO:0003682 chromatin binding
molecular function GO:0036033 mediator complex binding
molecular function GO:0046982 protein heterodimerization activity
molecular function GO:0003723 RNA binding
cellular component GO:0005694 chromosome
cellular component GO:0000775 chromosome, centromeric region
cellular component GO:0008278 cohesin complex
cellular component GO:0000777 condensed chromosome kinetochore
cellular component GO:0000794 condensed nuclear chromosome
cellular component GO:0005829 cytosol
cellular component GO:0000776 kinetochore
cellular component GO:0030893 meiotic cohesin complex
cellular component GO:0097431 mitotic spindle pole
cellular component GO:0016363 nuclear matrix
cellular component GO:0005654 nucleoplasm
cellular component GO:0005634 nucleus
Reactome
Pathway Id Pathway Name
R-HSA-1221632 Meiotic synapsis
R-HSA-1474165 Reproduction
R-HSA-1500620 Meiosis
R-HSA-162582 Signal Transduction
R-HSA-1640170 Cell Cycle
R-HSA-1640170 Cell Cycle
R-HSA-2467813 Separation of Sister Chromatids
R-HSA-2468052 Establishment of Sister Chromatid Cohesion
R-HSA-2470946 Cohesin Loading onto Chromatin
R-HSA-2500257 Resolution of Sister Chromatid Cohesion
R-HSA-2555396 Mitotic Metaphase and Anaphase
R-HSA-2990846 SUMOylation
R-HSA-3108214 SUMOylation of DNA damage response and repair proteins
R-HSA-3108232 SUMO E3 ligases SUMOylate target proteins
R-HSA-392499 Metabolism of proteins
R-HSA-597592 Post-translational protein modification
R-HSA-68877 Mitotic Prometaphase
R-HSA-68882 Mitotic Anaphase
R-HSA-68884 Mitotic Telophase/Cytokinesis
R-HSA-68886 M Phase
R-HSA-69242 S Phase
R-HSA-69278 Cell Cycle, Mitotic
R-HSA-8939211 ESR-mediated signaling
R-HSA-9006931 Signaling by Nuclear Receptors
R-HSA-9018519 Estrogen-dependent gene expression
Target protein-related  diseases
Disease
CUI Id BXGD Id Disease Name Disease Class
C0000768 BXGD000007 Congenital Abnormality Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0000772 BXGD000009 Multiple congenital anomalies Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0001430 BXGD000054 Adenoma Neoplasms
C0001807 BXGD000077 Aggressive behavior Behavior and Behavior Mechanisms
C0003130 BXGD000183 Anoxia Pathological Conditions, Signs and Symptoms
C0003467 BXGD000194 Anxiety Behavior and Behavior Mechanisms
C0004135 BXGD000257 Ataxia Telangiectasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases
C0004352 BXGD000269 Autistic Disorder Mental Disorders
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
C0005741 BXGD000328 Blepharitis Eye Diseases
C0005745 BXGD000331 Blepharoptosis Eye Diseases
C0006826 BXGD000408 Malignant Neoplasms Neoplasms
C0007194 BXGD000452 Hypertrophic Cardiomyopathy Cardiovascular Diseases
C0007847 BXGD000492 Malignant tumor of cervix Neoplasms; Female Urogenital Diseases and Pregnancy Complications
C0008073 BXGD000518 Developmental Disabilities Mental Disorders
C0008297 BXGD000522 Choanal Atresia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
C0008924 BXGD000574 Cleft upper lip Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
C0008925 BXGD000575 Cleft Palate Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
C0009402 BXGD000605 Colorectal Carcinoma Digestive System Diseases; Neoplasms
C0009404 BXGD000606 Colorectal Neoplasms Digestive System Diseases; Neoplasms
C0010068 BXGD000648 Coronary heart disease Cardiovascular Diseases
C0010278 BXGD000660 Craniosynostosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0010417 BXGD000670 Cryptorchidism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases
C0010606 BXGD000677 Adenoid Cystic Carcinoma Neoplasms
C0011168 BXGD000700 Deglutition Disorders Digestive System Diseases; Otorhinolaryngologic Diseases
C0013336 BXGD000815 Dwarfism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
C0014544 BXGD000926 Epilepsy Nervous System Diseases
C0014553 BXGD000931 Absence Epilepsy Nervous System Diseases
C0015544 BXGD001003 Failure to Thrive Pathological Conditions, Signs and Symptoms
C0015934 BXGD001026 Fetal Growth Retardation Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
C0016842 BXGD001083 Congenital pectus excavatum Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0017168 BXGD001101 Gastroesophageal reflux disease Digestive System Diseases
C0017601 BXGD001125 Glaucoma Eye Diseases
C0017636 BXGD001131 Glioblastoma Neoplasms
C0017638 BXGD001132 Glioma Neoplasms
C0018536 BXGD001201 Hallux Valgus Musculoskeletal 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
C0018817 BXGD001235 Atrial Septal Defects Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0018818 BXGD001236 Ventricular Septal Defects Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0019572 BXGD001338 Hirsutism Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
C0020534 BXGD001421 Orbital separation excessive Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0023466 BXGD001657 Leukemia, Monocytic, Chronic Neoplasms
C0023467 BXGD001658 Leukemia, Myelocytic, Acute Neoplasms
C0023470 BXGD001659 Myeloid Leukemia Neoplasms
C0023480 BXGD001664 Leukemia, Myelomonocytic, Chronic Neoplasms; Hemic and Lymphatic Diseases
C0023487 BXGD001669 Acute Promyelocytic Leukemia Neoplasms
C0024141 BXGD001740 Lupus Erythematosus, Systemic Skin and Connective Tissue Diseases; Immune System Diseases
C0025362 BXGD001866 Mental Retardation Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0025958 BXGD001882 Microcephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0025990 BXGD001884 Micrognathism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
C0025995 BXGD001885 Micromelia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0026106 BXGD001889 Mild Mental Retardation Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0026650 BXGD001913 Movement Disorders Nervous System Diseases
C0026826 BXGD001935 Muscle Hypertonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0026827 BXGD001936 Muscle hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0027092 BXGD001971 Myopia Eye Diseases
C0027627 BXGD002006 Neoplasm Metastasis Pathological Conditions, Signs and Symptoms; Neoplasms
C0027651 BXGD002009 Neoplasms Neoplasms
C0028738 BXGD002081 Nystagmus Eye Diseases; Nervous System Diseases
C0033377 BXGD002406 Ptosis Pathological Conditions, Signs and Symptoms
C0033578 BXGD002408 Prostatic Neoplasms Neoplasms; Male Urogenital Diseases
C0034012 BXGD002449 Delayed Puberty Endocrine System Diseases
C0034194 BXGD002472 Pyloric Stenosis Digestive System Diseases
C0035334 BXGD002539 Retinitis Pigmentosa Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0035372 BXGD002544 Rett Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0036572 BXGD002625 Seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0036857 BXGD002638 Severe intellectual disability Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0037317 BXGD002689 Sleep disturbances Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0037822 BXGD002706 Speech Disorders Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0038271 BXGD002742 Stereotyped Behavior Behavior and Behavior Mechanisms
C0038273 BXGD002743 Stereotypic Movement Disorder Mental Disorders
C0038379 BXGD002752 Strabismus Eye Diseases; Nervous System Diseases
C0041408 BXGD002923 Turner Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System 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
C0042961 BXGD003017 Intestinal Volvulus Pathological Conditions, Signs and Symptoms; Digestive System Diseases
C0079541 BXGD003081 Holoprosencephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0079744 BXGD003090 Diffuse Large B-Cell Lymphoma Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C0085584 BXGD003195 Encephalopathies Nervous System Diseases
C0086237 BXGD003273 Epilepsy, Cryptogenic Nervous System Diseases
C0086543 BXGD003294 Cataract Eye Diseases
C0151526 BXGD003432 Premature Birth Female Urogenital Diseases and Pregnancy Complications
C0152421 BXGD003586 Macrotia
C0158761 BXGD003905 Radioulnar Synostosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0162298 BXGD003933 Joint stiffness Musculoskeletal Diseases
C0221210 BXGD004406 Congenital malrotation of intestine Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
C0221217 BXGD004408 Neck webbing Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
C0221356 BXGD004448 Brachycephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0221357 BXGD004449 Brachydactyly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0221358 BXGD004450 Long narrow head
C0232466 BXGD004543 Feeding difficulties
C0232939 BXGD004568 Primary physiologic amenorrhea Pathological Conditions, Signs and Symptoms
C0235833 BXGD004775 Congenital diaphragmatic hernia Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0236018 BXGD004804 Aura Nervous System Diseases
C0239174 BXGD004969 Late tooth eruption
C0239234 BXGD004974 Low set ears
C0239479 BXGD004982 Round face
C0239676 BXGD004989 High forehead
C0240635 BXGD005047 Byzanthine arch palate Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases
C0241654 BXGD005104 Abnormal heart valve morphology Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0242526 BXGD005175 Gonadal Dysgenesis, 45,X Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases; Cardiovascular Diseases
C0242621 BXGD005183 Isochromosomes Pathological Conditions, Signs and Symptoms
C0262630 BXGD005262 Reduced concentration span Behavior and Behavior Mechanisms
C0263401 BXGD005298 Cutis marmorata Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases; Cardiovascular Diseases; Wounds and Injuries
C0265610 BXGD005555 Clinodactyly of fingers Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0265660 BXGD005561 Syndactyly of the toes Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0266383 BXGD005660 Uterine Anomalies Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0266435 BXGD005668 Congenital hypoplasia of penis Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0266544 BXGD005691 Microcornea Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0266617 BXGD005700 Congenital anomaly of face Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases
C0270972 BXGD006147 Cornelia De Lange Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0271007 BXGD006152 Phthisis bulbi Pathological Conditions, Signs and Symptoms; Eye Diseases
C0271561 BXGD006213 Somatotropin deficiency Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
C0278878 BXGD006609 Adult Glioblastoma Neoplasms
C0280100 BXGD006713 Solid Neoplasm Neoplasms
C0280474 BXGD006748 Childhood Glioblastoma Neoplasms
C0302592 BXGD006851 Cervix carcinoma Neoplasms; Female Urogenital Diseases and Pregnancy Complications
C0338656 BXGD007211 Impaired cognition Mental Disorders
C0349588 BXGD007933 Short stature
C0349639 BXGD007943 Juvenile Myelomonocytic Leukemia Neoplasms; Hemic and Lymphatic Diseases
C0376358 BXGD007992 Malignant neoplasm of prostate Neoplasms; Male Urogenital Diseases
C0398791 BXGD008233 Nijmegen Breakage Syndrome Nutritional and Metabolic Diseases
C0423110 BXGD008471 Downward slant of palpebral fissure
C0423112 BXGD008472 Short palpebral fissure
C0423113 BXGD008473 Telecanthus Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0424295 BXGD008524 Hyperactive behavior Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0424605 BXGD008535 Developmental delay (disorder) Mental Disorders
C0426848 BXGD008590 Sacral dimple Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0426886 BXGD008594 Tapering fingers (finding)
C0431447 BXGD008690 Synophrys Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
C0432072 BXGD008718 Dysmorphic features
C0432355 BXGD008780 Hypoplasia of nipple
C0454644 BXGD008850 Delayed speech and language development Behavior and Behavior Mechanisms
C0494165 BXGD009022 Secondary malignant neoplasm of liver Digestive System Diseases; Neoplasms
C0521525 BXGD009139 Short neck
C0541764 BXGD009259 Delayed bone age
C0543888 BXGD009300 Epileptic encephalopathy Nervous System Diseases
C0545053 BXGD009323 Advanced bone age
C0548883 BXGD009356 Low frustration tolerance Behavior and Behavior Mechanisms
C0557874 BXGD009444 Global developmental delay
C0566899 BXGD009494 Small labia majora
C0575802 BXGD009521 Small hand
C0576226 BXGD009527 Short foot
C0578038 BXGD009542 Thin lips
C0596263 BXGD009639 Carcinogenesis Pathological Conditions, Signs and Symptoms; Neoplasms
C0600104 BXGD009690 Obsessive compulsive behavior Behavior and Behavior Mechanisms
C0600139 BXGD009695 Prostate carcinoma Neoplasms; Male Urogenital Diseases
C0678230 BXGD009750 Congenital Epicanthus
C0700201 BXGD009880 Dyssomnias Nervous System Diseases; Mental Disorders
C0728895 BXGD009919 Absent finger Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0751111 BXGD010319 Awakening Epilepsy Nervous System Diseases
C0848558 BXGD010882 Hypospadias Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0851578 BXGD010925 Sleep Disorders Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders
C0936223 BXGD011477 Metastatic Prostate Carcinoma Neoplasms; Male Urogenital Diseases
C1142533 BXGD011758 Smooth philtrum
C1263846 BXGD011897 Attention deficit hyperactivity disorder Mental Disorders
C1269700 BXGD012002 Caliectasis Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C1270972 BXGD012006 Mild cognitive disorder Mental Disorders
C1282496 BXGD012147 Metastasis from malignant tumor of prostate
C1301937 BXGD012300 Talipes Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C1306459 BXGD012361 Primary malignant neoplasm Neoplasms
C1306710 BXGD012372 Facial asymmetry Pathological Conditions, Signs and Symptoms
C1328407 BXGD012465 Hip Dysplasia Musculoskeletal Diseases; Wounds and Injuries
C1328504 BXGD012469 Hormone refractory prostate cancer Neoplasms; Male Urogenital Diseases
C1531647 BXGD013301 Cerebral ventriculomegaly Nervous System Diseases
C1535926 BXGD013322 Neurodevelopmental Disorders Mental Disorders
C1565489 BXGD013401 Renal Insufficiency Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C1621958 BXGD013468 Glioblastoma Multiforme Neoplasms
C1737329 BXGD013728 Dysmorphism Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C1802395 BXGD013757 Congenital muscular hypertrophy-cerebral syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C1834405 BXGD013970 Nail dysplasia Pathological Conditions, Signs and Symptoms
C1836542 BXGD014129 Depressed nasal bridge
C1836842 BXGD014167 Psychomotor deterioration Mental Disorders
C1837218 BXGD014207 Cleft palate, isolated Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
C1837658 BXGD014257 Gross motor development delay Mental Disorders
C1839758 BXGD014402 Narrow forehead
C1840077 BXGD014434 Anteverted nostril
C1842366 BXGD014512 Low anterior hairline
C1842581 BXGD014525 Abnormal corpus callosum morphology Pathological Conditions, Signs and Symptoms
C1843156 BXGD014561 Progressive sensorineural hearing impairment Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C1843367 BXGD014576 Poor school performance
C1844813 BXGD014679 Widely spaced teeth
C1845977 BXGD014769 X- linked recessive
C1847363 BXGD014861 Aplasia/Hypoplasia of the ribs
C1847879 BXGD014895 X-linked dominant inheritance
C1848207 BXGD014916 Poor speech Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1848673 BXGD014963 Hypoplastic feet
C1849211 BXGD015023 Generalized hirsutism Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
C1849311 BXGD015034 Short 1st metacarpal
C1849367 BXGD015046 Nasal bridge wide
C1849510 BXGD015061 Prenatal movement abnormality
C1849955 BXGD015094 Limited elbow movement
C1850049 BXGD015101 Clinodactyly of the 5th finger
C1853099 BXGD015299 Cornelia de Lange Syndrome 3 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C1853241 BXGD015321 Flat face
C1853487 BXGD015340 Thick eyebrow
C1853738 BXGD015357 Long eyelashes
C1854113 BXGD015382 Prominent nasal bridge
C1854114 BXGD015383 Short nose
C1854630 BXGD015416 Growth Deficiency and Mental Retardation with Facial Dysmorphism Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C1854919 BXGD015442 Severe psychomotor retardation
C1855728 BXGD015536 Low posterior hairline
C1855900 BXGD015559 HYPERTRICHOSIS, CONGENITAL GENERALIZED Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
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
C1857641 BXGD015727 Severe postnatal growth retardation
C1859778 BXGD015931 Postnatal growth retardation
C1862095 BXGD016100 Bilateral single transverse palmar creases
C1865014 BXGD016282 Long philtrum
C1865017 BXGD016283 Thin upper lip vermilion
C1865572 BXGD016331 Proximal placement of thumb
C1866190 BXGD016384 Atresia of the external auditory canal
C1866195 BXGD016385 Downturned corners of mouth
C1866730 BXGD016419 Rhizomelia
C1868571 BXGD016508 Highly arched eyebrow
C1963184 BXGD016688 Nystagmus, CTCAE 3.0
C2239176 BXGD016965 Liver carcinoma Digestive System Diseases; Neoplasms
C2673670 BXGD017220 Curly eyelashes
C2674608 BXGD017250 Feeding difficulties in infancy
C2919142 BXGD017867 Short Stature, CTCAE
C2939419 BXGD018178 Secondary Neoplasm Pathological Conditions, Signs and Symptoms; Neoplasms
C2981150 BXGD018211 Uranostaphyloschisis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases
C3278923 BXGD018748 Dilated ventricles (finding)
C3279222 BXGD018751 Aplasia/Hypoplasia of the cerebellum
C3539878 BXGD019087 Triple Negative Breast Neoplasms Neoplasms; Skin and Connective Tissue Diseases
C3552501 BXGD019155 Talus valgus
C3714534 BXGD019411 dowling-degos disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
C3714581 BXGD019415 Multicystic Dysplastic Kidney Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C3714756 BXGD019429 Intellectual Disability Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C3714796 BXGD019434 Isolated somatotropin deficiency
C3887496 BXGD019882 Oligodactyly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C3887873 BXGD019922 Hearing Loss Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C4021386 BXGD020621 Abnormality of the elbow
C4023676 BXGD021237 Increased nuchal translucency Pathological Conditions, Signs and Symptoms
C4023808 BXGD021268 Hyperextensibility at elbow
C4023915 BXGD021274 Abnormally low-pitched voice
C4048328 BXGD021903 cervical cancer Neoplasms; Female Urogenital Diseases and Pregnancy Complications
C4317146 BXGD022730 Acid reflux
C4321245 BXGD022744 Cleft lip or lips
C4551472 BXGD023303 Hypertrophic obstructive cardiomyopathy Cardiovascular Diseases
C4551485 BXGD023312 Clinodactyly
C4551560 BXGD023349 Truncal obesity Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
C4551563 BXGD023351 Microcephaly (physical finding)
C4551583 BXGD023361 Cerebral cortical atrophy
C4551851 BXGD023419 Cornelia de Lange Syndrome 1 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C4554036 BXGD023557 Nystagmus, CTCAE 5.0
C4721453 BXGD023744 Peripheral Nervous System Diseases Nervous System Diseases
C4722085 BXGD023788 Malignant neoplasm of colon and/or rectum
C4722518 BXGD023806 Triple-Negative Breast Carcinoma Neoplasms; Skin and Connective Tissue Diseases
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0002588 Magnesium 24.31
BXGC0042376 Picropodophyllotoxin 414.13
BXGC0047692 Gefitinib 446.15
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