Showing entry for AT-rich interactive domain-containing protein 1B


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT018560
Protein NameAT-rich interactive domain-containing protein 1B
Uniport IdQ8NFD5
GeneARID1B
Gene Id57492
DomainARID; BAF250_C
Pfam PF01388   PF12031  
OrganismHomo sapiens (Human)
Target protein  affiliated  biological  pathways
KEGG
Class Subclass KEGG Id Pathway Name
5. Organismal Systems 5.10 Environmental adaptation hsa04714 Thermogenesis
6. Human Diseases 6.2 Cancers: Specific types hsa05225 Hepatocellular carcinoma
Gene Ontology
GO Type GO Id Gene Ontology
Biological Process GO:0043044 ATP-dependent chromatin remodeling
Biological Process GO:1904385 cellular response to angiotensin
Biological Process GO:0048096 chromatin-mediated maintenance of transcription
Biological Process GO:0097026 dendritic cell dendrite assembly
Biological Process GO:0060996 dendritic spine development
Biological Process GO:0007270 neuron-neuron synaptic transmission
Biological Process GO:0045893 positive regulation of transcription, DNA-templated
Biological Process GO:0006357 regulation of transcription by RNA polymerase II
Biological Process GO:0002931 response to ischemia
molecular function GO:0003677 DNA binding
molecular function GO:0003713 transcription coactivator activity
cellular component GO:0035060 brahma complex
cellular component GO:0005829 cytosol
cellular component GO:0071565 nBAF complex
cellular component GO:0005654 nucleoplasm
cellular component GO:0005886 plasma membrane
cellular component GO:0016514 SWI/SNF complex
cellular component GO:0045202 synapse
Reactome
Pathway Id Pathway Name
R-HSA-212436 Generic Transcription Pathway
R-HSA-3214858 RMTs methylate histone arginines
R-HSA-3247509 Chromatin modifying enzymes
R-HSA-4839726 Chromatin organization
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-74160 Gene expression (Transcription)
R-HSA-8878171 Transcriptional regulation by RUNX1
R-HSA-8939243 RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
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
C0001080 BXGD000022 Achondroplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0001807 BXGD000077 Aggressive behavior Behavior and Behavior Mechanisms
C0002793 BXGD000130 Anaplasia Pathological Conditions, Signs and Symptoms; Neoplasms
C0004106 BXGD000254 Astigmatism Eye 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
C0005744 BXGD000330 Blepharophimosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0005745 BXGD000331 Blepharoptosis Eye Diseases
C0006142 BXGD000374 Malignant neoplasm of breast Neoplasms; Skin and Connective Tissue Diseases
C0006826 BXGD000408 Malignant Neoplasms Neoplasms
C0007097 BXGD000424 Carcinoma Neoplasms
C0008073 BXGD000518 Developmental Disabilities Mental Disorders
C0008297 BXGD000522 Choanal Atresia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
C0008925 BXGD000575 Cleft Palate Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
C0009402 BXGD000605 Colorectal Carcinoma Digestive System Diseases; Neoplasms
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
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
C0011168 BXGD000700 Deglutition Disorders Digestive System Diseases; Otorhinolaryngologic Diseases
C0011860 BXGD000755 Diabetes Mellitus, Non-Insulin-Dependent Nutritional and Metabolic Diseases; Endocrine System Diseases
C0013274 BXGD000809 Patent ductus arteriosus Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0013295 BXGD000812 Duodenal Ulcer Digestive System Diseases
C0013336 BXGD000815 Dwarfism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
C0013363 BXGD000818 Dysautonomia Nervous System Diseases
C0013595 BXGD000858 Eczema Skin and Connective Tissue Diseases
C0014061 BXGD000883 Tick-Borne Encephalitis Infections; Nervous System Diseases
C0014544 BXGD000926 Epilepsy Nervous System Diseases
C0014772 BXGD000948 Red Blood Cell Count measurement
C0014877 BXGD000967 Esotropia Eye Diseases; Nervous System Diseases
C0015544 BXGD001003 Failure to Thrive Pathological Conditions, Signs and Symptoms
C0015672 BXGD001011 Fatigue 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
C0018784 BXGD001220 Sensorineural Hearing Loss (disorder) 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
C0018818 BXGD001236 Ventricular Septal Defects Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0018916 BXGD001245 Hemangioma Neoplasms
C0019294 BXGD001314 Hernia, Inguinal Pathological Conditions, Signs and Symptoms
C0019569 BXGD001337 Hirschsprung Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
C0019825 BXGD001349 Hoarseness Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
C0020295 BXGD001372 Hydronephrosis Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0020517 BXGD001415 Hypersensitivity Immune System Diseases
C0020534 BXGD001421 Orbital separation excessive Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0020538 BXGD001422 Hypertensive disease Cardiovascular Diseases
C0020555 BXGD001431 Hypertrichosis Skin and Connective Tissue Diseases
C0020615 BXGD001445 Hypoglycemia Nutritional and Metabolic Diseases
C0020676 BXGD001462 Hypothyroidism Endocrine System Diseases
C0021704 BXGD001510 Intelligence Behavior and Behavior Mechanisms
C0021933 BXGD001524 Intussusception Digestive System Diseases
C0022116 BXGD001531 Ischemia Pathological Conditions, Signs and Symptoms
C0022821 BXGD001590 Kyphosis deformity of spine Musculoskeletal Diseases
C0023465 BXGD001656 Acute monocytic leukemia Neoplasms
C0023467 BXGD001658 Leukemia, Myelocytic, Acute Neoplasms
C0023487 BXGD001669 Acute Promyelocytic Leukemia Neoplasms
C0023903 BXGD001720 Liver neoplasms Digestive System Diseases; Neoplasms
C0024433 BXGD001771 Macrostomia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
C0025958 BXGD001882 Microcephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0025990 BXGD001884 Micrognathism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
C0026106 BXGD001889 Mild Mental Retardation Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0026351 BXGD001900 Moderate intellectual disability Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0026650 BXGD001913 Movement Disorders Nervous System Diseases
C0026827 BXGD001936 Muscle hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0027092 BXGD001971 Myopia Eye Diseases
C0027651 BXGD002009 Neoplasms Neoplasms
C0027819 BXGD002043 Neuroblastoma Neoplasms
C0027830 BXGD002046 neurofibroma Neoplasms; Nervous System Diseases
C0028738 BXGD002081 Nystagmus Eye Diseases; Nervous System Diseases
C0032460 BXGD002355 Polycystic Ovary Syndrome Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
C0033377 BXGD002406 Ptosis Pathological Conditions, Signs and Symptoms
C0036439 BXGD002615 Scoliosis, unspecified Musculoskeletal 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
C0037822 BXGD002706 Speech Disorders Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0038358 BXGD002748 Gastric ulcer Digestive System Diseases
C0038379 BXGD002752 Strabismus Eye Diseases; Nervous System Diseases
C0039685 BXGD002825 Tetralogy of Fallot Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0040485 BXGD002871 Torticollis Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0041296 BXGD002903 Tuberculosis Infections
C0041341 BXGD002918 Tuberous Sclerosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
C0042580 BXGD002992 Vesico-Ureteral Reflux Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0080174 BXGD003106 Spina Bifida Occulta Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0086237 BXGD003273 Epilepsy, Cryptogenic Nervous System Diseases
C0086437 BXGD003282 Joint laxity Musculoskeletal Diseases
C0086543 BXGD003294 Cataract Eye Diseases
C0151526 BXGD003432 Premature Birth Female Urogenital Diseases and Pregnancy Complications
C0152013 BXGD003516 Adenocarcinoma of lung (disorder) Neoplasms
C0175754 BXGD004015 Agenesis of corpus callosum Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0178874 BXGD004037 Tumor Progression Pathological Conditions, Signs and Symptoms
C0201925 BXGD004058 Calcium measurement
C0205698 BXGD004109 Undifferentiated carcinoma Neoplasms
C0206633 BXGD004198 Angiomyolipoma Neoplasms
C0206733 BXGD004278 Strawberry nevus of skin Neoplasms
C0221210 BXGD004406 Congenital malrotation of intestine Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
C0221354 BXGD004446 Frontal bossing Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0221356 BXGD004448 Brachycephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
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
C0236018 BXGD004804 Aura Nervous System Diseases
C0238207 BXGD004894 Ectopic kidney Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0239137 BXGD004965 Coxa valga Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
C0239174 BXGD004969 Late tooth eruption
C0239234 BXGD004974 Low set ears
C0240340 BXGD005031 Microdontia (disorder) Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
C0240635 BXGD005047 Byzanthine arch palate Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases
C0240912 BXGD005062 Vertical Talus Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0241703 BXGD005109 High pitched voice
C0262444 BXGD005244 Abnormality of the dentition Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
C0263401 BXGD005298 Cutis marmorata Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases; Cardiovascular Diseases; Wounds and Injuries
C0264303 BXGD005379 Laryngomalacia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
C0265338 BXGD005522 Coffin-Siris syndrome Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms
C0265529 BXGD005542 Plagiocephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0265563 BXGD005550 Congenital dislocation of radial head Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0265998 BXGD005600 ANONYCHIA Pathological Conditions, Signs and Symptoms
C0266295 BXGD005645 Congenital hypoplasia of kidney Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0266324 BXGD005653 Congenital dilatation of ureter
C0266589 BXGD005698 Congenital ear anomaly NOS (disorder) Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Otorhinolaryngologic Diseases
C0271994 BXGD006290 Hereditary persistence of fetal hemoglobin thalassemia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
C0277960 BXGD006488 Dry hair
C0278704 BXGD006567 Malignant Childhood Neoplasm Neoplasms
C0279680 BXGD006680 Transitional cell carcinoma of bladder Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0344482 BXGD007678 Hypoplasia of corpus callosum Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0346647 BXGD007832 Malignant neoplasm of pancreas Digestive System Diseases; Neoplasms; Endocrine System Diseases
C0349588 BXGD007933 Short stature
C0392699 BXGD008064 Dysesthesia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0409348 BXGD008384 Flexion contracture of proximal interphalangeal joint
C0423109 BXGD008470 Upward slant of palpebral fissure
C0423110 BXGD008471 Downward slant of palpebral fissure
C0424503 BXGD008532 Dysmorphic facies
C0424605 BXGD008535 Developmental delay (disorder) Mental Disorders
C0424711 BXGD008541 Orbital separation diminished
C0424731 BXGD008542 Single transverse palmar crease Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0425913 BXGD008554 Uterus absent (finding)
C0426429 BXGD008564 Broad nasal tip
C0426848 BXGD008590 Sacral dimple Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0428302 BXGD008625 Calcium level result
C0428883 BXGD008639 Diastolic blood pressure
C0431366 BXGD008672 Congenital malformation of corpus callosum Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0431368 BXGD008673 Partial agenesis of corpus callosum Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0431384 BXGD008681 Colpocephaly Nervous System Diseases
C0431478 BXGD008692 Posteriorly rotated ear
C0431663 BXGD008700 Bilateral Cryptorchidism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases
C0432072 BXGD008718 Dysmorphic features
C0454644 BXGD008850 Delayed speech and language development Behavior and Behavior Mechanisms
C0456070 BXGD008863 Growth delay
C0476089 BXGD008977 Endometrial Carcinoma Neoplasms; Female Urogenital Diseases and Pregnancy Complications
C0494165 BXGD009022 Secondary malignant neoplasm of liver Digestive System Diseases; Neoplasms
C0496956 BXGD009052 Neoplasm of uncertain or unknown behavior of breast Neoplasms; Skin and Connective Tissue Diseases
C0520679 BXGD009101 Sleep Apnea, Obstructive Respiratory Tract Diseases; Nervous System Diseases
C0522624 BXGD009204 Subcutaneous panniculitis-like T-cell lymphoma Neoplasms; Skin and Connective Tissue Diseases; Immune System Diseases; Hemic and Lymphatic Diseases
C0523465 BXGD009209 Serum albumin measurement
C0524528 BXGD009229 Pervasive Development Disorder Mental Disorders
C0541764 BXGD009259 Delayed bone age
C0557874 BXGD009444 Global developmental delay
C0575497 BXGD009518 Short sternum
C0585984 BXGD009601 Laryngotracheomalacia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
C0596263 BXGD009639 Carcinogenesis Pathological Conditions, Signs and Symptoms; Neoplasms
C0678222 BXGD009749 Breast Carcinoma Neoplasms; Skin and Connective Tissue Diseases
C0678230 BXGD009750 Congenital Epicanthus
C0683322 BXGD009782 Mental impairment
C0686619 BXGD009835 Secondary malignant neoplasm of lymph node Pathological Conditions, Signs and Symptoms; Neoplasms
C0699885 BXGD009869 Carcinoma of bladder Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0700095 BXGD009875 Central neuroblastoma Neoplasms; Nervous System 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
C0855740 BXGD011086 Abnormal platelet function
C0856975 BXGD011127 Autistic behavior Behavior and Behavior Mechanisms
C0857379 BXGD011148 Abnormality of the pinna
C0858252 BXGD011172 Breast adenocarcinoma Neoplasms; Skin and Connective Tissue Diseases
C1184923 BXGD011800 Lumbar hyperlordosis Musculoskeletal Diseases
C1303073 BXGD012322 Nicolaides Baraitser syndrome Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C1306459 BXGD012361 Primary malignant neoplasm Neoplasms
C1306503 BXGD012363 Congenital exomphalos Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C1384666 BXGD012948 hearing impairment Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C1510586 BXGD013176 Autism Spectrum Disorders Mental Disorders
C1527304 BXGD013266 Allergic Reaction Immune System Diseases
C1531647 BXGD013301 Cerebral ventriculomegaly Nervous System Diseases
C1535926 BXGD013322 Neurodevelopmental Disorders Mental Disorders
C1832348 BXGD013831 Slow-growing hair
C1834405 BXGD013970 Nail dysplasia Pathological Conditions, Signs and Symptoms
C1835807 BXGD014051 Prominent fingertip pads
C1836542 BXGD014129 Depressed nasal bridge
C1836674 BXGD014145 Short distal phalanx of the 5th finger
C1837142 BXGD014201 Poor suck
C1837218 BXGD014207 Cleft palate, isolated Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
C1837397 BXGD014227 Severe global developmental delay
C1839546 BXGD014385 Microretrognathia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
C1839739 BXGD014400 Thick lower lip vermilion
C1839829 BXGD014413 Short distal phalanx of finger
C1840069 BXGD014433 Sandal gap
C1840379 BXGD014459 Cerebellar vermis hypoplasia
C1842366 BXGD014512 Low anterior hairline
C1842876 BXGD014542 Depressed nasal ridge
C1843367 BXGD014576 Poor school performance
C1844813 BXGD014679 Widely spaced teeth
C1844820 BXGD014681 Range of joint movement increased
C1845847 BXGD014760 Coarse facial features Pathological Conditions, Signs and Symptoms
C1847117 BXGD014852 Dilated fourth ventricle
C1849075 BXGD015002 Relative macrocephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C1849211 BXGD015023 Generalized hirsutism Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
C1849367 BXGD015046 Nasal bridge wide
C1849538 BXGD015064 Delayed eruption of primary teeth
C1850049 BXGD015101 Clinodactyly of the 5th finger
C1851085 BXGD015191 Severe expressive language delay
C1851095 BXGD015193 Lumbosacral hirsutism
C1851400 BXGD015210 Facial Hypertrichosis Skin and Connective Tissue Diseases
C1853377 BXGD015331 Enlarged cisterna magna
C1853487 BXGD015340 Thick eyebrow
C1853738 BXGD015357 Long eyelashes
C1854882 BXGD015439 Absent speech Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1855333 BXGD015489 External genital hypoplasia
C1856118 BXGD015576 Prominent nasal tip
C1857042 BXGD015669 Sparse scalp hair
C1857353 BXGD015697 Posterior fossa cyst
C1857453 BXGD015703 Renal hypoplasia/aplasia
C1857486 BXGD015710 Low-set, posteriorly rotated ears
C1858036 BXGD015763 Periorbital fullness
C1858085 BXGD015770 Malar flattening
C1858120 BXGD015774 Generalized hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1859115 BXGD015853 Prominent interphalangeal joints
C1859778 BXGD015931 Postnatal growth retardation
C1860816 BXGD016001 Preauricular skin tag
C1861324 BXGD016029 Short philtrum
C1862095 BXGD016100 Bilateral single transverse palmar creases
C1865014 BXGD016282 Long philtrum
C1865017 BXGD016283 Thin upper lip vermilion
C1868577 BXGD016509 Patella aplasia-hypoplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C1963184 BXGD016688 Nystagmus, CTCAE 3.0
C2237142 BXGD016960 Moderate global developmental delay
C2239176 BXGD016965 Liver carcinoma Digestive System Diseases; Neoplasms
C2243051 BXGD017008 Large head (disorder)
C2267233 BXGD017017 Neonatal Hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C2315100 BXGD017021 Pediatric failure to thrive Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders
C2674608 BXGD017250 Feeding difficulties in infancy
C2919142 BXGD017867 Short Stature, CTCAE
C3150215 BXGD018299 CHROMOSOME 6q24-q25 DELETION SYNDROME
C3150613 BXGD018311 Long toe
C3278923 BXGD018748 Dilated ventricles (finding)
C3279222 BXGD018751 Aplasia/Hypoplasia of the cerebellum
C3281201 BXGD018889 MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms
C3539878 BXGD019087 Triple Negative Breast Neoplasms Neoplasms; Skin and Connective Tissue Diseases
C3544205 BXGD019109 Ovarian clear cell carcinoma
C3553764 BXGD019187 Joint hyperflexibility
C3665347 BXGD019279 Visual Impairment Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C3697248 BXGD019355 Short lower third of face
C3714756 BXGD019429 Intellectual Disability Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C3806482 BXGD019514 Recurrent respiratory infections Infections; Respiratory Tract Diseases
C4012968 BXGD020124 Mild global developmental delay
C4021006 BXGD020520 Short distal phalanx of the 5th toe
C4021735 BXGD020743 Abnormality of the hip bone
C4021790 BXGD020782 Abnormality of the skeletal system
C4021792 BXGD020783 Abnormality of the clavicle
C4021801 BXGD020791 Lacrimation abnormality
C4022120 BXGD020881 Aplasia/Hypoplasia of the distal phalanx of the 5th toe
C4023116 BXGD021113 Hypoplastic fifth toenail
C4023681 BXGD021239 Delayed fine motor development
C4024507 BXGD021326 Aplasia/Hypoplasia of the distal phalanx of the 5th finger
C4024682 BXGD021368 Hypoplastic fifth fingernail
C4025249 BXGD021604 Abnormality of the intervertebral disk
C4025846 BXGD021826 Abnormality of vision
C4049796 BXGD021951 Abnormality of cardiovascular system morphology Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C4073145 BXGD022048 Hyperkeratosis pilaris
C4086165 BXGD022126 Childhood Neuroblastoma Neoplasms
C4304527 BXGD022578 6q25 microdeletion syndrome
C4551629 BXGD023374 Congenital talipes calcaneovalgus Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C4554036 BXGD023557 Nystagmus, CTCAE 5.0
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
BXGC0003705 Chloride 35.45
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