Showing entry for Gap junction beta-2 protein


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT009308
Protein NameGap junction beta-2 protein
Uniport IdP29033
GeneGJB2
Gene Id2706
DomainConnexin
Pfam PF00029  
OrganismHomo sapiens (Human)
Target protein  affiliated  biological  pathways
KEGG
Class Subclass KEGG Id Pathway Name
Gene Ontology
GO Type GO Id Gene Ontology
Biological Process GO:0007568 aging
Biological Process GO:0007267 cell-cell signaling
Biological Process GO:0071549 cellular response to dexamethasone stimulus
Biological Process GO:0071377 cellular response to glucagon stimulus
Biological Process GO:0034599 cellular response to oxidative stress
Biological Process GO:0046697 decidualization
Biological Process GO:1905867 epididymis development
Biological Process GO:0016264 gap junction assembly
Biological Process GO:1990349 gap junction-mediated intercellular transport
Biological Process GO:0048839 inner ear development
Biological Process GO:0046677 response to antibiotic
Biological Process GO:0032355 response to estradiol
Biological Process GO:0044752 response to human chorionic gonadotropin
Biological Process GO:0002931 response to ischemia
Biological Process GO:0032496 response to lipopolysaccharide
Biological Process GO:0032570 response to progesterone
Biological Process GO:0032526 response to retinoic acid
Biological Process GO:0007605 sensory perception of sound
Biological Process GO:0055085 transmembrane transport
molecular function GO:0005509 calcium ion binding
molecular function GO:0005243 gap junction channel activity
molecular function GO:1903763 gap junction channel activity involved in cell communication by electrical coupling
molecular function GO:0042802 identical protein binding
cellular component GO:0097449 astrocyte projection
cellular component GO:0044297 cell body
cellular component GO:0005922 connexin complex
cellular component GO:0005829 cytosol
cellular component GO:0005793 endoplasmic reticulum-Golgi intermediate compartment
cellular component GO:0005921 gap junction
cellular component GO:0005887 integral component of plasma membrane
cellular component GO:0016328 lateral plasma membrane
cellular component GO:0048471 perinuclear region of cytoplasm
cellular component GO:0005886 plasma membrane
Reactome
Pathway Id Pathway Name
R-HSA-157858 Gap junction trafficking and regulation
R-HSA-157858 Gap junction trafficking and regulation
R-HSA-190704 Oligomerization of connexins into connexons
R-HSA-190827 Transport of connexins along the secretory pathway
R-HSA-190828 Gap junction trafficking
R-HSA-190828 Gap junction trafficking
R-HSA-190861 Gap junction assembly
R-HSA-190861 Gap junction assembly
R-HSA-190872 Transport of connexons to the plasma membrane
R-HSA-199991 Membrane Trafficking
R-HSA-199991 Membrane Trafficking
R-HSA-5653656 Vesicle-mediated transport
R-HSA-5653656 Vesicle-mediated transport
Target protein-related  diseases
Disease
CUI Id BXGD Id Disease Name Disease Class
C0000768 BXGD000007 Congenital Abnormality Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0001807 BXGD000077 Aggressive behavior Behavior and Behavior Mechanisms
C0002170 BXGD000105 Alopecia Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
C0002793 BXGD000130 Anaplasia Pathological Conditions, Signs and Symptoms; Neoplasms
C0003469 BXGD000195 Anxiety Disorders Mental Disorders
C0003537 BXGD000208 Aphasia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0003864 BXGD000231 Arthritis Musculoskeletal Diseases
C0003872 BXGD000235 Arthritis, Psoriatic Skin and Connective Tissue Diseases; Musculoskeletal Diseases
C0004352 BXGD000269 Autistic Disorder Mental Disorders
C0004775 BXGD000290 Bartter Disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
C0005398 BXGD000311 Cholestasis, Extrahepatic Digestive System Diseases
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
C0006142 BXGD000374 Malignant neoplasm of breast Neoplasms; Skin and Connective Tissue Diseases
C0006826 BXGD000408 Malignant Neoplasms Neoplasms
C0007097 BXGD000424 Carcinoma Neoplasms
C0007114 BXGD000431 Malignant neoplasm of skin Neoplasms; Skin and Connective Tissue Diseases
C0007124 BXGD000437 Noninfiltrating Intraductal Carcinoma Neoplasms
C0007131 BXGD000441 Non-Small Cell Lung Carcinoma Neoplasms; Respiratory Tract Diseases
C0007137 BXGD000445 Squamous cell carcinoma Neoplasms
C0007642 BXGD000469 Cellulitis Pathological Conditions, Signs and Symptoms; Infections; Skin and Connective Tissue Diseases
C0007758 BXGD000475 Cerebellar Ataxia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0007959 BXGD000507 Charcot-Marie-Tooth Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0008073 BXGD000518 Developmental Disabilities Mental Disorders
C0008373 BXGD000536 Cholesteatoma Skin and Connective Tissue Diseases
C0008925 BXGD000575 Cleft Palate Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
C0009241 BXGD000595 Cognition Disorders Mental Disorders
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
C0010043 BXGD000644 Corneal Ulcer Infections; Eye Diseases
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
C0010674 BXGD000683 Cystic Fibrosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
C0010823 BXGD000690 Cytomegalovirus Infections Infections
C0010964 BXGD000692 Dandy-Walker Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0011052 BXGD000693 Prelingual Deafness Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C0011053 BXGD000694 Deafness Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C0011334 BXGD000716 Dental caries Stomatognathic Diseases
C0011606 BXGD000735 Exfoliative dermatitis Skin and Connective Tissue Diseases
C0011853 BXGD000752 Diabetes Mellitus, Experimental Nutritional and Metabolic Diseases; Endocrine System Diseases
C0013080 BXGD000797 Down Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0013336 BXGD000815 Dwarfism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
C0013575 BXGD000854 Ectodermal Dysplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
C0014170 BXGD000902 Endometrial Neoplasms Neoplasms; Female Urogenital Diseases and Pregnancy Complications
C0014173 BXGD000903 Endometrial Hyperplasia Female Urogenital Diseases and Pregnancy Complications
C0014175 BXGD000904 Endometriosis Female Urogenital Diseases and Pregnancy Complications
C0014544 BXGD000926 Epilepsy Nervous System Diseases
C0014859 BXGD000961 Esophageal Neoplasms Digestive System Diseases; Neoplasms
C0017205 BXGD001105 Gaucher Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C0017638 BXGD001132 Glioma Neoplasms
C0018133 BXGD001176 Graft-vs-Host Disease Immune System Diseases
C0018671 BXGD001211 Head and Neck Neoplasms Neoplasms
C0018775 BXGD001215 Hearing Loss, Bilateral Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C0018776 BXGD001216 Hearing Loss, Central Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C0018777 BXGD001217 Conductive hearing loss Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C0018780 BXGD001218 Hearing Loss, High-Frequency Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C0018781 BXGD001219 Noise-induced hearing loss Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C0018784 BXGD001220 Sensorineural Hearing Loss (disorder) Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C0018799 BXGD001224 Heart Diseases Cardiovascular Diseases
C0019569 BXGD001337 Hirschsprung Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
C0019829 BXGD001350 Hodgkin Disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C0020620 BXGD001448 Hypohidrosis Skin and Connective Tissue Diseases
C0020757 BXGD001466 Ichthyoses Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
C0020758 BXGD001467 Congenital ichthyosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
C0021051 BXGD001475 Immunologic Deficiency Syndromes Immune System Diseases
C0021390 BXGD001503 Inflammatory Bowel Diseases Digestive System Diseases
C0022104 BXGD001529 Irritable Bowel Syndrome Digestive System Diseases
C0022116 BXGD001531 Ischemia Pathological Conditions, Signs and Symptoms
C0022568 BXGD001552 Keratitis Eye Diseases
C0022575 BXGD001555 Keratoconjunctivitis Sicca Eye Diseases
C0022579 BXGD001558 Keratoderma Skin and Connective Tissue Diseases
C0022596 BXGD001563 Palmoplantar Keratosis Skin and Connective Tissue Diseases; Musculoskeletal Diseases
C0022876 BXGD001591 Premature Obstetric Labor Female Urogenital Diseases and Pregnancy Complications
C0023452 BXGD001651 Childhood Acute Lymphoblastic Leukemia Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C0023473 BXGD001661 Myeloid Leukemia, Chronic Neoplasms; Hemic and Lymphatic Diseases
C0023532 BXGD001685 Leukoplakia, Oral Pathological Conditions, Signs and Symptoms; Neoplasms; Stomatognathic Diseases
C0023895 BXGD001717 Liver diseases Digestive System Diseases
C0023903 BXGD001720 Liver neoplasms Digestive System Diseases; Neoplasms
C0023904 BXGD001721 Liver Neoplasms, Experimental Digestive System Diseases; Neoplasms
C0024121 BXGD001735 Lung Neoplasms Neoplasms; Respiratory Tract Diseases
C0024299 BXGD001758 Lymphoma Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C0024433 BXGD001771 Macrostomia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
C0024636 BXGD001793 Malocclusion Stomatognathic Diseases
C0025149 BXGD001826 Medulloblastoma Neoplasms
C0025202 BXGD001832 melanoma Neoplasms
C0025221 BXGD001837 Meleda Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
C0025286 BXGD001850 Meningioma Neoplasms; Nervous System Diseases
C0026106 BXGD001889 Mild Mental Retardation Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0026850 BXGD001942 Muscular Dystrophy Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0027627 BXGD002006 Neoplasm Metastasis Pathological Conditions, Signs and Symptoms; Neoplasms
C0027651 BXGD002009 Neoplasms Neoplasms
C0027819 BXGD002043 Neuroblastoma Neoplasms
C0027960 BXGD002062 Nevus Neoplasms
C0027962 BXGD002064 Melanocytic nevus Neoplasms
C0028734 BXGD002080 Nocturia Pathological Conditions, Signs and Symptoms
C0028768 BXGD002084 Obsessive-Compulsive Disorder Mental Disorders
C0029118 BXGD002111 Opportunistic Infections Infections
C0030193 BXGD002191 Pain Pathological Conditions, Signs and Symptoms
C0030246 BXGD002198 Pustulosis of Palms and Soles Skin and Connective Tissue Diseases
C0030297 BXGD002204 Pancreatic Neoplasm Digestive System Diseases; Neoplasms; Endocrine System Diseases
C0030567 BXGD002240 Parkinson Disease Nervous System Diseases
C0031069 BXGD002279 Familial Mediterranean Fever Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0031557 BXGD002306 Phlegmon Pathological Conditions, Signs and Symptoms; Infections; Skin and Connective Tissue Diseases
C0033074 BXGD002393 Presbycusis Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C0033575 BXGD002407 Prostatic Diseases Male Urogenital Diseases
C0033578 BXGD002408 Prostatic Neoplasms Neoplasms; Male Urogenital Diseases
C0033860 BXGD002438 Psoriasis Skin and Connective Tissue Diseases
C0035243 BXGD002522 Respiratory Tract Infections Infections; Respiratory Tract Diseases
C0035334 BXGD002539 Retinitis Pigmentosa Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0036572 BXGD002625 Seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0037090 BXGD002665 Signs and Symptoms, Respiratory Pathological Conditions, Signs and Symptoms
C0037268 BXGD002675 Skin Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
C0037274 BXGD002676 Dermatologic disorders Skin and Connective Tissue Diseases
C0037277 BXGD002677 Skin Diseases, Genetic Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
C0037284 BXGD002679 Skin lesion Skin and Connective Tissue Diseases
C0037285 BXGD002680 Skin Manifestations Pathological Conditions, Signs and Symptoms
C0037286 BXGD002681 Skin Neoplasms Neoplasms; Skin and Connective Tissue Diseases
C0037299 BXGD002685 Skin Ulcer Skin and Connective Tissue Diseases
C0038356 BXGD002747 Stomach Neoplasms Digestive System Diseases; Neoplasms
C0038587 BXGD002773 Substance Withdrawal Syndrome Chemically-Induced Disorders; Mental Disorders
C0039273 BXGD002806 Talipes cavus Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0039373 BXGD002809 Tay-Sachs Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C0040264 BXGD002857 Tinnitus Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C0040412 BXGD002860 Fissured tongue Stomatognathic Diseases
C0041671 BXGD002930 Attention Deficit Disorder Mental Disorders
C0041834 BXGD002935 Erythema Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
C0041972 BXGD002944 Urethral Obstruction 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
C0042571 BXGD002991 Vertigo Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C0043345 BXGD003042 Xeroderma Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
C0079153 BXGD003064 Hyperkeratosis, Epidermolytic Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
C0085109 BXGD003125 Corneal Neovascularization Pathological Conditions, Signs and Symptoms; Eye Diseases
C0085271 BXGD003148 Self-Injurious Behavior Behavior and Behavior Mechanisms
C0085636 BXGD003218 Photophobia Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0086395 BXGD003277 Hearing Loss, Extreme Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C0086543 BXGD003294 Cataract Eye Diseases
C0086873 BXGD003313 Pseudopelade Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
C0149516 BXGD003324 Chronic sinusitis Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
C0150988 BXGD003404 Sclerodactyly Skin and Connective Tissue Diseases
C0151468 BXGD003424 Thyroid Gland Follicular Adenoma Neoplasms; Endocrine System Diseases
C0151811 BXGD003478 Subcutaneous nodule Neoplasms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
C0152013 BXGD003516 Adenocarcinoma of lung (disorder) Neoplasms
C0152018 BXGD003518 Esophageal carcinoma Digestive System Diseases; Neoplasms
C0152027 BXGD003523 Sensory Disorders Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0152268 BXGD003580 Nodular Sclerosis Classical Hodgkin Lymphoma Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C0152459 BXGD003600 Linear atrophy Pathological Conditions, Signs and Symptoms
C0153398 BXGD003631 Hypopharyngeal Cancer Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases
C0153676 BXGD003679 Secondary malignant neoplasm of lung Neoplasms; Respiratory Tract Diseases
C0155119 BXGD003773 Recurrent erosion of cornea Pathological Conditions, Signs and Symptoms; Eye Diseases
C0155526 BXGD003798 Cochlear otosclerosis Otorhinolaryngologic Diseases
C0155552 BXGD003801 Hearing Loss, Mixed Conductive-Sensorineural Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C0158945 BXGD003913 Congenital cytomegalovirus infection Infections
C0162361 BXGD003940 Hidrotic Ectodermal Dysplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
C0162830 BXGD003987 Dermatitis, Phototoxic Skin and Connective Tissue Diseases
C0162836 BXGD003990 Hidradenitis Suppurativa Infections; Skin and Connective Tissue Diseases
C0178874 BXGD004037 Tumor Progression Pathological Conditions, Signs and Symptoms
C0206624 BXGD004190 Hepatoblastoma Neoplasms
C0206682 BXGD004237 Follicular thyroid carcinoma Neoplasms
C0221259 BXGD004423 Trichiasis Eye Diseases
C0221260 BXGD004424 Dystrophia unguium Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
C0221353 BXGD004445 Horseshoe Kidney Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0221357 BXGD004449 Brachydactyly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0231686 BXGD004508 Gait, Unsteady Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0233794 BXGD004618 Memory impairment Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
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
C0238286 BXGD004904 Mucolipidosis Type IV Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
C0238463 BXGD004938 Papillary thyroid carcinoma Neoplasms; Endocrine System Diseases
C0239174 BXGD004969 Late tooth eruption
C0239234 BXGD004974 Low set ears
C0240182 BXGD005023 Leukonychia Skin and Connective Tissue Diseases
C0242379 BXGD005157 Malignant neoplasm of lung Neoplasms; Respiratory Tract Diseases
C0259799 BXGD005224 Punctate keratitis Eye Diseases
C0263361 BXGD005292 Psoriasis vulgaris Skin and Connective Tissue Diseases
C0265334 BXGD005520 Pachyonychia Congenita Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
C0265336 BXGD005521 Senter syndrome Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
C0265964 BXGD005591 Mutilating keratoderma Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
C0266004 BXGD005602 Knuckle pads, leuconychia and sensorineural deafness Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
C0266449 BXGD005670 Congenital anomaly of brain Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases
C0266470 BXGD005678 Cerebellar Hypoplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
C0266589 BXGD005698 Congenital ear anomaly NOS (disorder) Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Otorhinolaryngologic Diseases
C0271097 BXGD006163 Usher Syndrome Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
C0271514 BXGD006207 Low frequency deafness Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C0271623 BXGD006222 Hypogonadotropic hypogonadism Endocrine System Diseases
C0271829 BXGD006267 Pendred's syndrome Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
C0275544 BXGD006377 Congenital infectious disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections
C0278510 BXGD006526 Childhood Medulloblastoma Neoplasms
C0278704 BXGD006567 Malignant Childhood Neoplasm Neoplasms
C0278876 BXGD006607 Adult Medulloblastoma Neoplasms
C0279626 BXGD006657 Squamous cell carcinoma of esophagus Digestive System Diseases; Neoplasms
C0280301 BXGD006734 Hard Palate Squamous Cell Carcinoma
C0280374 BXGD006743 Metastatic Squamous Cell Carcinoma of the Oropharynx
C0302142 BXGD006831 Deformity Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0332563 BXGD006894 Papule Pathological Conditions, Signs and Symptoms
C0332573 BXGD006895 Macule
C0338656 BXGD007211 Impaired cognition Mental Disorders
C0339002 BXGD007221 Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type Mental Disorders
C0339789 BXGD007282 Congenital deafness Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases; Otorhinolaryngologic Diseases
C0345904 BXGD007745 Malignant neoplasm of liver Digestive System Diseases; Neoplasms
C0346647 BXGD007832 Malignant neoplasm of pancreas Digestive System Diseases; Neoplasms; Endocrine System Diseases
C0349588 BXGD007933 Short stature
C0349702 BXGD007951 Corneal Scar Eye Diseases; Nervous System Diseases; Wounds and Injuries
C0375206 BXGD007973 Hemiplegia/hemiparesis
C0376358 BXGD007992 Malignant neoplasm of prostate Neoplasms; Male Urogenital Diseases
C0392163 BXGD008030 Corneal erosion Infections; Eye Diseases
C0392553 BXGD008055 Hereditary peripheral neuropathy Nervous System Diseases
C0394006 BXGD008166 Dysequilibrium syndrome Nervous System Diseases
C0395973 BXGD008176 Recessive sensorineural hearing loss Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C0395976 BXGD008177 Hearing loss associated with syndrome Otorhinolaryngologic Diseases
C0406317 BXGD008334 Chronic small plaque psoriasis Skin and Connective Tissue Diseases
C0406757 BXGD008370 Hereditary palmoplantar keratoderma Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
C0409338 BXGD008381 Flexion contracture - elbow
C0410173 BXGD008409 Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder) Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases
C0423112 BXGD008472 Short palpebral fissure
C0423113 BXGD008473 Telecanthus Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0423318 BXGD008478 Heterochromia iridis Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases
C0423867 BXGD008517 Fine hair
C0424295 BXGD008524 Hyperactive behavior Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0431447 BXGD008690 Synophrys Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
C0432072 BXGD008718 Dysmorphic features
C0432475 BXGD008794 XX males Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0452136 BXGD008830 Conductive hearing loss, bilateral Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C0452138 BXGD008831 Sensorineural hearing loss, bilateral Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C0454644 BXGD008850 Delayed speech and language development Behavior and Behavior Mechanisms
C0456909 BXGD008883 Blindness Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0473577 BXGD008943 Eccrine nevus
C0473579 BXGD008944 Porokeratotic eccrine ostial and dermal duct nevus
C0473582 BXGD008945 Hair follicle nevus
C0476273 BXGD008986 Respiratory distress Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
C0478084 BXGD009012 Other congenital ichthyosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
C0497552 BXGD009067 Congenital neurologic anomalies Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0521707 BXGD009166 Bilateral cataracts (disorder) Eye Diseases
C0521785 BXGD009180 Hearing Loss, Unilateral Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C0541764 BXGD009259 Delayed bone age
C0544795 BXGD009312 Follicular occlusion triad - hidradenitis, acne conglobata, dissecting cellulitis of scalp Infections; Skin and Connective Tissue Diseases
C0546837 BXGD009343 Malignant neoplasm of esophagus Digestive System Diseases; Neoplasms
C0553723 BXGD009416 Squamous cell carcinoma of skin Neoplasms; Skin and Connective Tissue Diseases
C0557874 BXGD009444 Global developmental delay
C0581883 BXGD009575 Complete Hearing Loss Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C0595995 BXGD009634 Idiopathic scoliosis Musculoskeletal Diseases
C0596263 BXGD009639 Carcinogenesis Pathological Conditions, Signs and Symptoms; Neoplasms
C0600139 BXGD009695 Prostate carcinoma Neoplasms; Male Urogenital Diseases
C0678222 BXGD009749 Breast Carcinoma Neoplasms; Skin and Connective Tissue Diseases
C0684249 BXGD009790 Carcinoma of lung Neoplasms; Respiratory Tract Diseases
C0686619 BXGD009835 Secondary malignant neoplasm of lymph node Pathological Conditions, Signs and Symptoms; Neoplasms
C0699791 BXGD009867 Stomach Carcinoma Digestive System Diseases; Neoplasms
C0699885 BXGD009869 Carcinoma of bladder Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0700095 BXGD009875 Central neuroblastoma Neoplasms; Nervous System Diseases
C0750974 BXGD010270 Brain Tumor, Primary Neoplasms; Nervous System Diseases
C0751068 BXGD010310 Deafness, Acquired Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C0795690 BXGD010728 Congenital omphalocele Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0856825 BXGD011118 Acute GVH disease Immune System Diseases
C0859886 BXGD011203 Inherited hearing loss
C0870082 BXGD011309 Hyperkeratosis Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
C0919267 BXGD011426 ovarian neoplasm Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
C0920350 BXGD011466 Autoimmune thyroiditis Immune System Diseases; Endocrine System Diseases
C0948444 BXGD011539 Mitochondrial DNA mutation
C1134719 BXGD011688 Invasive Ductal Breast Carcinoma Neoplasms; Skin and Connective Tissue Diseases
C1148477 BXGD011765 Deafness, Sudden Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C1168401 BXGD011792 Squamous cell carcinoma of the head and neck Neoplasms
C1263846 BXGD011897 Attention deficit hyperactivity disorder Mental Disorders
C1269955 BXGD012005 Tumor Cell Invasion
C1274216 BXGD012025 Punctate palmoplantar keratoderma
C1275100 BXGD012058 Keratoderma with deafness
C1305740 BXGD012346 Overbite Stomatognathic Diseases
C1306459 BXGD012361 Primary malignant neoplasm Neoplasms
C1306460 BXGD012362 Primary malignant neoplasm of lung Neoplasms; Respiratory Tract Diseases
C1332206 BXGD012504 Adult Lymphoma Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C1332979 BXGD012571 Childhood Lymphoma Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C1333064 BXGD012587 Classical Hodgkin's Lymphoma Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C1335060 BXGD012756 Non-Small Cell Adenocarcinoma Neoplasms
C1368404 BXGD012899 Hypopharyngeal Carcinoma Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases
C1384666 BXGD012948 hearing impairment Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C1456781 BXGD013123 Benign melanocytic nevus Neoplasms
C1458155 BXGD013136 Mammary Neoplasms Neoplasms; Skin and Connective Tissue Diseases
C1519353 BXGD013236 Skin Papule Skin and Connective Tissue Diseases
C1527358 BXGD013279 Phototoxicity Skin and Connective Tissue Diseases
C1527388 BXGD013284 Amniotic Bands Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C1562761 BXGD013378 Punctate epithelial keratitis Eye Diseases
C1611743 BXGD013456 Familial (FPAH)
C1691779 BXGD013493 Sensory hearing loss Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C1721006 BXGD013700 Keratoderma, Palmoplantar, Epidermolytic Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
C1832394 BXGD013838 Deafness, Autosomal Recessive 12 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C1832828 BXGD013876 Deafness, Autosomal Recessive 9 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C1833225 BXGD013904 Dystrophic toenail
C1834405 BXGD013970 Nail dysplasia Pathological Conditions, Signs and Symptoms
C1835672 BXGD014042 Palmoplantar Keratoderma with Deafness Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
C1835686 BXGD014043 Recurrent bacterial skin infections
C1836674 BXGD014145 Short distal phalanx of the 5th finger
C1837279 BXGD014217 Hypoplastic toenails
C1837397 BXGD014227 Severe global developmental delay
C1837770 BXGD014270 Sparse hair
C1839364 BXGD014371 Progressive visual loss
C1839988 BXGD014428 Ichthyosis follicularis atrichia photophobia syndrome Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases
C1840077 BXGD014434 Anteverted nostril
C1842366 BXGD014512 Low anterior hairline
C1843005 BXGD014548 Absent eyelashes
C1843156 BXGD014561 Progressive sensorineural hearing impairment Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C1843300 BXGD014572 Sparse eyelashes
C1843367 BXGD014576 Poor school performance
C1844678 BXGD014660 Progressive hearing loss stapes fixation Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases
C1845878 BXGD014764 Irregularly spaced teeth
C1845977 BXGD014769 X- linked recessive
C1846647 BXGD014833 DEAFNESS, AUTOSOMAL RECESSIVE (disorder) Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C1847800 BXGD014889 Waardenburg Syndrome Type 1 Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C1848641 BXGD014955 Profound sensorineural hearing loss Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C1849718 BXGD015080 POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Stomatognathic Diseases
C1852271 BXGD015268 Auditory neuropathy Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C1852289 BXGD015270 Autoamputation of digits Musculoskeletal Diseases
C1856786 BXGD015645 Hypoplastic fingernail
C1858120 BXGD015774 Generalized hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1860339 BXGD015980 WAARDENBURG SYNDROME, TYPE IIA Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C1861326 BXGD016031 Stapes ankylosis
C1865017 BXGD016283 Thin upper lip vermilion
C1865234 BXGD016300 ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
C1865866 BXGD016345 Congenital sensorineural hearing loss Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C1866032 BXGD016364 Honeycomb palmoplantar keratoderma Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
C1866934 BXGD016427 Reduced tendon reflexes Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1961835 BXGD016676 Gaucher Disease, Type 1 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C1969913 BXGD016800 Generalized hyperkeratosis
C2239176 BXGD016965 Liver carcinoma Digestive System Diseases; Neoplasms
C2315694 BXGD017023 Bilateral sensory hearing loss Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C2607914 BXGD017148 Allergic rhinitis (disorder) Respiratory Tract Diseases; Immune System Diseases; Otorhinolaryngologic Diseases
C2673759 BXGD017224 DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C2673760 BXGD017225 DEAFNESS, DIGENIC, GJB2/GJB6 (disorder) Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C2673761 BXGD017226 DEAFNESS, DIGENIC, GJB2/GJB3 (disorder) Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C2675111 BXGD017272 Abnormal eyelash morphology
C2675235 BXGD017282 Deafness, Autosomal Recessive 1b Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C2675750 BXGD017309 DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C2676033 BXGD017322 Hepatoblastoma Caused By Somatic Mutation Digestive System Diseases; Neoplasms
C2676973 BXGD017350 Dilatated internal auditory canal
C2700265 BXGD017464 Waardenburg Syndrome Type 2 Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C2732267 BXGD017551 Auditory neuropathy spectrum disorder Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C2919142 BXGD017867 Short Stature, CTCAE
C2931923 BXGD018094 Hyperkeratosis of the palms and soles and esophageal papillomas Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases
C2936846 BXGD018144 Scarring alopecia Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Endocrine System Diseases
C2939419 BXGD018178 Secondary Neoplasm Pathological Conditions, Signs and Symptoms; Neoplasms
C2973725 BXGD018205 Pulmonary arterial hypertension Respiratory Tract Diseases; Cardiovascular Diseases
C2986665 BXGD018237 Early-Stage Breast Carcinoma Neoplasms; Skin and Connective Tissue Diseases
C3266262 BXGD018600 Multiple Chronic Conditions Pathological Conditions, Signs and Symptoms
C3266898 BXGD018606 Waardenburg Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C3279947 BXGD018789 NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9
C3281029 BXGD018876 RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL
C3539878 BXGD019087 Triple Negative Breast Neoplasms Neoplasms; Skin and Connective Tissue Diseases
C3539920 BXGD019089 ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
C3541517 BXGD019097 ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT
C3551426 BXGD019146 Dystrophic fingernails
C3662483 BXGD019270 Allergic sensitization
C3665333 BXGD019274 Keratitis-Ichthyosis-Deafness Syndrome Eye Diseases
C3665473 BXGD019290 Bilateral Deafness Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C3711374 BXGD019382 Nonsyndromic Deafness Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C3714756 BXGD019429 Intellectual Disability Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C3806301 BXGD019504 Scarring alopecia of scalp
C3826233 BXGD019717 Hearing impaired children
C3839753 BXGD019784 Abnormality of nail of toe Pathological Conditions, Signs and Symptoms
C3887494 BXGD019881 ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
C3887873 BXGD019922 Hearing Loss Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C3888065 BXGD019946 ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT
C4021065 BXGD020538 Fullness of paranasal tissue
C4021533 BXGD020656 Severe sensorineural hearing impairment Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C4021753 BXGD020758 Abnormality of the immune system
C4021806 BXGD020795 Prelingual sensorineural hearing impairment
C4021892 BXGD020830 Absent fifth toenail
C4021956 BXGD020839 Aplasia/Hypoplasia of the eyebrow
C4022756 BXGD020985 Profound hearing impairment Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C4023328 BXGD021154 Abnormality of corneal stroma
C4025316 BXGD021640 Temporal hypotrichosis
C4025596 BXGD021684 Abnormality of connective tissue
C4025722 BXGD021756 Abnormality of the spinal cord
C4025761 BXGD021782 Abnormality of the integument
C4025790 BXGD021791 Specific learning disability
C4082305 BXGD022091 Deaf Mutism Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C4086165 BXGD022126 Childhood Neuroblastoma Neoplasms
C4275242 BXGD022371 Sudden sensorineural hearing loss Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C4281993 BXGD022418 Neonatal respiratory distress Respiratory Tract Diseases
C4282407 BXGD022423 Sparse and thin eyebrow
C4303429 BXGD022558 Acquired hearing loss Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C4316870 BXGD022707 Abnormality of the eye
C4521042 BXGD023055 Complete Trisomy 21 Syndrome Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C4531223 BXGD023208 Ichthyosis follicularis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
C4551485 BXGD023312 Clinodactyly
C4551563 BXGD023351 Microcephaly (physical finding)
C4551675 BXGD023384 Keratoderma, Palmoplantar Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
C4552766 BXGD023523 Miscarriage Female Urogenital Diseases and Pregnancy Complications
C4553962 BXGD023553 Hyperkeratosis, CTCAE
C4721411 BXGD023735 Osteolysis Musculoskeletal Diseases
C4722085 BXGD023788 Malignant neoplasm of colon and/or rectum
C4722518 BXGD023806 Triple-Negative Breast Carcinoma Neoplasms; Skin and Connective Tissue Diseases
C4732730 BXGD023895 Blood spots
C4733092 BXGD023907 estrogen receptor-negative breast cancer
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0002586 Calcium 40.08
BXGC0004275 Acetaldehyde 44.05
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