Showing entry for General transcription and DNA repair factor IIH helicase subunit XPD


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT008374
Protein NameGeneral transcription and DNA repair factor IIH helicase subunit XPD
Uniport IdP18074
GeneERCC2
Gene Id2068
DomainDEAD_2; HBB; Helicase_C_2
Pfam PF06733   PF06777   PF13307  
OrganismHomo sapiens (Human)
Target protein  affiliated  biological  pathways
KEGG
Class Subclass KEGG Id Pathway Name
2. Genetic Information Processing 2.1 Transcription hsa03022 Basal transcription factors
2. Genetic Information Processing 2.4 Replication and repair hsa03420 Nucleotide excision repair
Gene Ontology
GO Type GO Id Gene Ontology
Biological Process GO:0006370 7-methylguanosine mRNA capping
Biological Process GO:0007568 aging
Biological Process GO:0006915 apoptotic process
Biological Process GO:0030282 bone mineralization
Biological Process GO:0008283 cell population proliferation
Biological Process GO:0032289 central nervous system myelin formation
Biological Process GO:0007059 chromosome segregation
Biological Process GO:0040016 embryonic cleavage
Biological Process GO:0048568 embryonic organ development
Biological Process GO:0043249 erythrocyte maturation
Biological Process GO:0030198 extracellular matrix organization
Biological Process GO:0070911 global genome nucleotide-excision repair
Biological Process GO:0035315 hair cell differentiation
Biological Process GO:0048820 hair follicle maturation
Biological Process GO:0060218 hematopoietic stem cell differentiation
Biological Process GO:0001701 in utero embryonic development
Biological Process GO:0000462 maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)
Biological Process GO:0035264 multicellular organism growth
Biological Process GO:0006289 nucleotide-excision repair
Biological Process GO:0000717 nucleotide-excision repair, DNA duplex unwinding
Biological Process GO:0033683 nucleotide-excision repair, DNA incision
Biological Process GO:0006295 nucleotide-excision repair, DNA incision, 3'-to lesion
Biological Process GO:0006296 nucleotide-excision repair, DNA incision, 5'-to lesion
Biological Process GO:0006294 nucleotide-excision repair, preincision complex assembly
Biological Process GO:0006293 nucleotide-excision repair, preincision complex stabilization
Biological Process GO:0043388 positive regulation of DNA binding
Biological Process GO:0045951 positive regulation of mitotic recombination
Biological Process GO:0045893 positive regulation of transcription, DNA-templated
Biological Process GO:0009791 post-embryonic development
Biological Process GO:0006468 protein phosphorylation
Biological Process GO:1901990 regulation of mitotic cell cycle phase transition
Biological Process GO:0000019 regulation of mitotic recombination
Biological Process GO:0001666 response to hypoxia
Biological Process GO:0006979 response to oxidative stress
Biological Process GO:0009411 response to UV
Biological Process GO:0021510 spinal cord development
Biological Process GO:0006363 termination of RNA polymerase I transcription
Biological Process GO:0006366 transcription by RNA polymerase II
Biological Process GO:0006283 transcription-coupled nucleotide-excision repair
Biological Process GO:0006368 transcription elongation from RNA polymerase II promoter
Biological Process GO:0006362 transcription elongation from RNA polymerase I promoter
Biological Process GO:0006367 transcription initiation from RNA polymerase II promoter
Biological Process GO:0006361 transcription initiation from RNA polymerase I promoter
Biological Process GO:0009650 UV protection
Biological Process GO:0016032 viral process
molecular function GO:0051539 4 iron, 4 sulfur cluster binding
molecular function GO:0043139 5'-3' DNA helicase activity
molecular function GO:0005524 ATP binding
molecular function GO:0003684 damaged DNA binding
molecular function GO:0003678 DNA helicase activity
molecular function GO:0046872 metal ion binding
molecular function GO:0008022 protein C-terminus binding
molecular function GO:0030674 protein-macromolecule adaptor activity
molecular function GO:0047485 protein N-terminus binding
cellular component GO:0070516 CAK-ERCC2 complex
cellular component GO:0005737 cytoplasm
cellular component GO:0005829 cytosol
cellular component GO:0071817 MMXD complex
cellular component GO:0005654 nucleoplasm
cellular component GO:0005634 nucleus
cellular component GO:0005819 spindle
cellular component GO:0005669 transcription factor TFIID complex
cellular component GO:0000439 transcription factor TFIIH core complex
cellular component GO:0005675 transcription factor TFIIH holo complex
Reactome
Pathway Id Pathway Name
R-HSA-112382 Formation of RNA Pol II elongation complex
R-HSA-113418 Formation of the Early Elongation Complex
R-HSA-1430728 Metabolism
R-HSA-162587 HIV Life Cycle
R-HSA-162599 Late Phase of HIV Life Cycle
R-HSA-162906 HIV Infection
R-HSA-1643685 Disease
R-HSA-167152 Formation of HIV elongation complex in the absence of HIV Tat
R-HSA-167158 Formation of the HIV-1 Early Elongation Complex
R-HSA-167160 RNA Pol II CTD phosphorylation and interaction with CE during HIV infection
R-HSA-167161 HIV Transcription Initiation
R-HSA-167162 RNA Polymerase II HIV Promoter Escape
R-HSA-167169 HIV Transcription Elongation
R-HSA-167172 Transcription of the HIV genome
R-HSA-167200 Formation of HIV-1 elongation complex containing HIV-1 Tat
R-HSA-167246 Tat-mediated elongation of the HIV-1 transcript
R-HSA-212165 Epigenetic regulation of gene expression
R-HSA-212436 Generic Transcription Pathway
R-HSA-2564830 Cytosolic iron-sulfur cluster assembly
R-HSA-3700989 Transcriptional Regulation by TP53
R-HSA-427413 NoRC negatively regulates rRNA expression
R-HSA-5250941 Negative epigenetic regulation of rRNA expression
R-HSA-5663205 Infectious disease
R-HSA-5696395 Formation of Incision Complex in GG-NER
R-HSA-5696398 Nucleotide Excision Repair
R-HSA-5696399 Global Genome Nucleotide Excision Repair (GG-NER)
R-HSA-5696400 Dual Incision in GG-NER
R-HSA-674695 RNA Polymerase II Pre-transcription Events
R-HSA-6781823 Formation of TC-NER Pre-Incision Complex
R-HSA-6781827 Transcription-Coupled Nucleotide Excision Repair (TC-NER)
R-HSA-6782135 Dual incision in TC-NER
R-HSA-6782210 Gap-filling DNA repair synthesis and ligation in TC-NER
R-HSA-6796648 TP53 Regulates Transcription of DNA Repair Genes
R-HSA-72086 mRNA Capping
R-HSA-73762 RNA Polymerase I Transcription Initiation
R-HSA-73772 RNA Polymerase I Promoter Escape
R-HSA-73776 RNA Polymerase II Promoter Escape
R-HSA-73779 RNA Polymerase II Transcription Pre-Initiation And Promoter Opening
R-HSA-73854 RNA Polymerase I Promoter Clearance
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-73863 RNA Polymerase I Transcription Termination
R-HSA-73864 RNA Polymerase I Transcription
R-HSA-73894 DNA Repair
R-HSA-74160 Gene expression (Transcription)
R-HSA-74160 Gene expression (Transcription)
R-HSA-75953 RNA Polymerase II Transcription Initiation
R-HSA-75955 RNA Polymerase II Transcription Elongation
R-HSA-76042 RNA Polymerase II Transcription Initiation And Promoter Clearance
R-HSA-77075 RNA Pol II CTD phosphorylation and interaction with CE
R-HSA-8953854 Metabolism of RNA
Target protein-related  diseases
Disease
CUI Id BXGD Id Disease Name Disease Class
C0001418 BXGD000050 Adenocarcinoma Neoplasms
C0001430 BXGD000054 Adenoma Neoplasms
C0001857 BXGD000085 AIDS related complex Infections; Immune System Diseases
C0002170 BXGD000105 Alopecia Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
C0002871 BXGD000132 Anemia Hemic and Lymphatic Diseases
C0003850 BXGD000225 Arteriosclerosis Cardiovascular Diseases
C0003862 BXGD000230 Arthralgia Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
C0003873 BXGD000236 Rheumatoid Arthritis Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases
C0003886 BXGD000238 Arthrogryposis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0004045 BXGD000249 Asphyxia Neonatorum Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0004096 BXGD000252 Asthma Respiratory Tract Diseases; Immune System Diseases
C0004106 BXGD000254 Astigmatism Eye Diseases
C0004134 BXGD000256 Ataxia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0004509 BXGD000275 Azoospermia Male Urogenital Diseases
C0004763 BXGD000289 Barrett Esophagus Digestive System Diseases; Neoplasms
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
C0005967 BXGD000357 Bone neoplasms Neoplasms; Musculoskeletal Diseases
C0006118 BXGD000372 Brain Neoplasms Neoplasms; Nervous System Diseases
C0006142 BXGD000374 Malignant neoplasm of breast Neoplasms; Skin and Connective Tissue Diseases
C0006266 BXGD000382 Bronchospasm Respiratory Tract Diseases
C0006625 BXGD000401 Cachexia Pathological Conditions, Signs and Symptoms
C0006826 BXGD000408 Malignant Neoplasms Neoplasms
C0007097 BXGD000424 Carcinoma Neoplasms
C0007102 BXGD000425 Malignant tumor of colon Digestive System Diseases; Neoplasms
C0007103 BXGD000426 Malignant neoplasm of endometrium Neoplasms; Female Urogenital Diseases and Pregnancy Complications
C0007107 BXGD000428 Malignant neoplasm of larynx Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
C0007113 BXGD000430 Rectal Carcinoma Digestive System Diseases; Neoplasms
C0007114 BXGD000431 Malignant neoplasm of skin Neoplasms; Skin and Connective Tissue Diseases
C0007115 BXGD000432 Malignant neoplasm of thyroid Neoplasms; Endocrine System Diseases
C0007117 BXGD000433 Basal cell carcinoma Neoplasms
C0007131 BXGD000441 Non-Small Cell Lung Carcinoma Neoplasms; Respiratory Tract Diseases
C0007134 BXGD000443 Renal Cell Carcinoma Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0007137 BXGD000445 Squamous cell carcinoma Neoplasms
C0007138 BXGD000446 Carcinoma, Transitional Cell Neoplasms
C0007682 BXGD000471 CNS disorder Nervous System Diseases
C0008073 BXGD000518 Developmental Disabilities Mental Disorders
C0008626 BXGD000559 Congenital chromosomal disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0009080 BXGD000580 Clubbed Fingers Musculoskeletal Diseases
C0009207 BXGD000593 Cockayne Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
C0009402 BXGD000605 Colorectal Carcinoma Digestive System Diseases; Neoplasms
C0009404 BXGD000606 Colorectal Neoplasms Digestive System Diseases; Neoplasms
C0009676 BXGD000619 Confusion Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
C0009763 BXGD000628 Conjunctivitis Eye Diseases
C0009918 BXGD000636 Contracture of joint Musculoskeletal Diseases
C0010054 BXGD000647 Coronary Arteriosclerosis Cardiovascular 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
C0011334 BXGD000716 Dental caries Stomatognathic Diseases
C0011351 BXGD000717 Dental Enamel Hypoplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
C0011606 BXGD000735 Exfoliative dermatitis Skin and Connective Tissue Diseases
C0011847 BXGD000749 Diabetes Endocrine System Diseases
C0011849 BXGD000751 Diabetes Mellitus Nutritional and Metabolic Diseases; Endocrine System Diseases
C0012569 BXGD000777 Diplopia Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous 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
C0013362 BXGD000817 Dysarthria Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0013592 BXGD000857 Ectropion Eye Diseases
C0013595 BXGD000858 Eczema Skin and Connective Tissue Diseases
C0014175 BXGD000904 Endometriosis Female Urogenital Diseases and Pregnancy Complications
C0014390 BXGD000913 Entropion Eye Diseases
C0014859 BXGD000961 Esophageal Neoplasms Digestive System Diseases; Neoplasms
C0014877 BXGD000967 Esotropia Eye Diseases; Nervous System Diseases
C0015230 BXGD000969 Exanthema Skin and Connective Tissue Diseases
C0015414 BXGD000989 Eye Neoplasms Neoplasms; Eye Diseases
C0015544 BXGD001003 Failure to Thrive Pathological Conditions, Signs and Symptoms
C0015625 BXGD001006 Fanconi Anemia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
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
C0015967 BXGD001030 Fever Pathological Conditions, Signs and Symptoms
C0016689 BXGD001073 Freckles Skin and Connective Tissue Diseases
C0017168 BXGD001101 Gastroesophageal reflux disease Digestive System Diseases
C0017636 BXGD001131 Glioblastoma Neoplasms
C0017638 BXGD001132 Glioma Neoplasms
C0018051 BXGD001167 Gonadal Dysgenesis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
C0018081 BXGD001171 Gonorrhea Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases
C0018553 BXGD001203 Hamartoma Syndrome, Multiple Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
C0018784 BXGD001220 Sensorineural Hearing Loss (disorder) Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C0018818 BXGD001236 Ventricular Septal Defects Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0019156 BXGD001292 Hepatic Veno-Occlusive Disease Digestive System Diseases; Cardiovascular Diseases
C0019163 BXGD001295 Hepatitis B Digestive System Diseases; Infections
C0019196 BXGD001301 Hepatitis C Digestive System Diseases; Infections
C0020255 BXGD001369 Hydrocephalus Nervous System Diseases
C0020534 BXGD001421 Orbital separation excessive Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0020619 BXGD001447 Hypogonadism Endocrine System Diseases
C0020625 BXGD001451 Hyponatremia Nutritional and Metabolic Diseases
C0020757 BXGD001466 Ichthyoses Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
C0021364 BXGD001500 Male infertility Male Urogenital Diseases
C0021843 BXGD001520 Intestinal Obstruction Digestive System Diseases
C0022568 BXGD001552 Keratitis Eye Diseases
C0022575 BXGD001555 Keratoconjunctivitis Sicca Eye Diseases
C0023267 BXGD001626 Fibroid Tumor Neoplasms
C0023418 BXGD001642 leukemia Neoplasms
C0023434 BXGD001643 Chronic Lymphocytic Leukemia Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C0023449 BXGD001650 Acute lymphocytic leukemia Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C0023465 BXGD001656 Acute monocytic leukemia Neoplasms
C0023467 BXGD001658 Leukemia, Myelocytic, Acute Neoplasms
C0023473 BXGD001661 Myeloid Leukemia, Chronic Neoplasms; Hemic and Lymphatic Diseases
C0023529 BXGD001682 Leukomalacia, Periventricular Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
C0023530 BXGD001683 Leukopenia Hemic and Lymphatic Diseases
C0023531 BXGD001684 Leukoplakia Pathological Conditions, Signs and Symptoms; Neoplasms
C0023532 BXGD001685 Leukoplakia, Oral Pathological Conditions, Signs and Symptoms; Neoplasms; Stomatognathic Diseases
C0023903 BXGD001720 Liver neoplasms Digestive System Diseases; Neoplasms
C0024121 BXGD001735 Lung Neoplasms Neoplasms; Respiratory Tract Diseases
C0024141 BXGD001740 Lupus Erythematosus, Systemic Skin and Connective Tissue Diseases; Immune System Diseases
C0024299 BXGD001758 Lymphoma Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C0024301 BXGD001759 Lymphoma, Follicular Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C0024305 BXGD001763 Lymphoma, Non-Hodgkin Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C0024523 BXGD001781 Malabsorption Syndrome Digestive System Diseases; Nutritional and Metabolic Diseases
C0024623 BXGD001791 Malignant neoplasm of stomach Digestive System Diseases; Neoplasms
C0025202 BXGD001832 melanoma Neoplasms
C0025286 BXGD001850 Meningioma Neoplasms; Nervous 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
C0026010 BXGD001886 Microphthalmos Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0026764 BXGD001928 Multiple Myeloma Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular 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
C0026838 BXGD001938 Muscle Spasticity Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0026847 BXGD001940 Spinal Muscular Atrophy Nervous System Diseases
C0027092 BXGD001971 Myopia Eye Diseases
C0027430 BXGD001988 Nasal Polyps Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
C0027497 BXGD001993 Nausea Pathological Conditions, Signs and Symptoms
C0027627 BXGD002006 Neoplasm Metastasis Pathological Conditions, Signs and Symptoms; Neoplasms
C0027651 BXGD002009 Neoplasms Neoplasms
C0027708 BXGD002025 Nephroblastoma Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0027765 BXGD002033 nervous system disorder Nervous System Diseases
C0027947 BXGD002061 Neutropenia Hemic and Lymphatic Diseases
C0027962 BXGD002064 Melanocytic nevus Neoplasms
C0028738 BXGD002081 Nystagmus Eye Diseases; Nervous System Diseases
C0028754 BXGD002082 Obesity Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
C0028768 BXGD002084 Obsessive-Compulsive Disorder Mental Disorders
C0028797 BXGD002087 Occupational Diseases Occupational Diseases
C0028945 BXGD002099 oligodendroglioma Neoplasms
C0029124 BXGD002113 Optic Atrophy Eye Diseases; Nervous System Diseases
C0029453 BXGD002154 Osteopenia Nutritional and Metabolic Diseases; Musculoskeletal Diseases
C0029463 BXGD002160 Osteosarcoma Neoplasms
C0029464 BXGD002161 Osteosclerosis Musculoskeletal Diseases
C0030297 BXGD002204 Pancreatic Neoplasm Digestive System Diseases; Neoplasms; Endocrine System Diseases
C0030354 BXGD002214 Papilloma Neoplasms
C0031099 BXGD002282 Periodontitis Stomatognathic Diseases
C0032460 BXGD002355 Polycystic Ovary Syndrome Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
C0032463 BXGD002357 Polycythemia Vera Neoplasms; Hemic and Lymphatic Diseases
C0032927 BXGD002381 Precancerous Conditions Neoplasms
C0033300 BXGD002403 Progeria Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C0033578 BXGD002408 Prostatic Neoplasms Neoplasms; Male Urogenital Diseases
C0033999 BXGD002448 Pterygium Eye Diseases
C0035309 BXGD002530 Retinal Diseases Eye Diseases
C0035335 BXGD002540 Retinoblastoma Neoplasms; Eye Diseases
C0035613 BXGD002562 Rift Valley Fever Digestive System Diseases; Infections; Animal Diseases
C0036572 BXGD002625 Seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0036646 BXGD002627 Age-related cataract Eye Diseases
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
C0038356 BXGD002747 Stomach Neoplasms Digestive System Diseases; Neoplasms
C0038379 BXGD002752 Strabismus Eye Diseases; Nervous System Diseases
C0038454 BXGD002760 Cerebrovascular accident Nervous System Diseases; Cardiovascular Diseases
C0039446 BXGD002811 Telangiectasis Cardiovascular Diseases
C0040028 BXGD002835 Thrombocythemia, Essential Hemic and Lymphatic Diseases
C0040136 BXGD002845 Thyroid Neoplasm Neoplasms; Endocrine System Diseases
C0041834 BXGD002935 Erythema Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
C0042109 BXGD002957 Urticaria Skin and Connective Tissue Diseases; Immune System Diseases
C0042133 BXGD002960 Uterine Fibroids Neoplasms
C0042963 BXGD003018 Vomiting Pathological Conditions, Signs and Symptoms
C0043116 BXGD003028 HMN (Hereditary Motor Neuropathy) Proximal Type I Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0043346 BXGD003043 Xeroderma Pigmentosum Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
C0079153 BXGD003064 Hyperkeratosis, Epidermolytic Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
C0079154 BXGD003065 Congenital Nonbullous Ichthyosiform Erythroderma Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
C0079588 BXGD003084 Ichthyosis, X-Linked Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
C0079731 BXGD003087 B-Cell Lymphomas Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C0079744 BXGD003090 Diffuse Large B-Cell Lymphoma Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C0079772 BXGD003099 T-Cell Lymphoma Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C0080178 BXGD003107 Spina Bifida Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0085183 BXGD003139 Neoplasms, Second Primary Neoplasms
C0085583 BXGD003194 Choreoathetosis Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0085636 BXGD003218 Photophobia Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0085669 BXGD003233 Acute leukemia Pathological Conditions, Signs and Symptoms; Neoplasms
C0086543 BXGD003294 Cataract Eye Diseases
C0149651 BXGD003342 Clubbing
C0151514 BXGD003429 Atrophic condition of skin Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
C0151611 BXGD003447 Electroencephalogram abnormal Nervous System Diseases
C0151779 BXGD003473 Cutaneous Melanoma Neoplasms; Skin and Connective Tissue Diseases
C0151888 BXGD003497 Hyporeflexia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0151908 BXGD003502 Dry skin Skin and Connective Tissue Diseases
C0152013 BXGD003516 Adenocarcinoma of lung (disorder) Neoplasms
C0152018 BXGD003518 Esophageal carcinoma Digestive System Diseases; Neoplasms
C0152233 BXGD003565 Congenital ankyloblepharon Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0153381 BXGD003626 Malignant neoplasm of mouth Neoplasms; Stomatognathic Diseases
C0153392 BXGD003630 Malignant neoplasm of nasopharynx Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases
C0153452 BXGD003647 Malignant neoplasm of gallbladder Digestive System Diseases; Neoplasms
C0153594 BXGD003669 Malignant neoplasm of testis Neoplasms; Male Urogenital Diseases; Endocrine System Diseases
C0154017 BXGD003692 Benign neoplasm of bladder Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0154091 BXGD003702 Carcinoma in situ of bladder Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0162298 BXGD003933 Joint stiffness Musculoskeletal Diseases
C0162429 BXGD003942 Malnutrition Nutritional and Metabolic Diseases
C0178874 BXGD004037 Tumor Progression Pathological Conditions, Signs and Symptoms
C0202236 BXGD004086 Triglycerides measurement
C0206677 BXGD004234 Adenomatous Polyps Neoplasms
C0220605 BXGD004294 Adult Non-Hodgkin Lymphoma Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C0220612 BXGD004296 Childhood Non-Hodgkin Lymphoma Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C0220621 BXGD004300 Childhood Acute Myeloid Leukemia Neoplasms
C0220630 BXGD004302 Adult Liver Carcinoma Digestive System Diseases; Neoplasms
C0220641 BXGD004305 Lip and Oral Cavity Carcinoma Neoplasms; Stomatognathic Diseases
C0220722 BXGD004331 Cerebrooculofacioskeletal Syndrome 1 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
C0220756 BXGD004338 Niemann-Pick Disease, Type C Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
C0221260 BXGD004424 Dystrophia unguium Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
C0221261 BXGD004425 Koilonychia Skin and Connective Tissue Diseases
C0231341 BXGD004492 Premature aging syndrome Pathological Conditions, Signs and Symptoms
C0234132 BXGD004623 Pyramidal sign Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0234133 BXGD004624 Extrapyramidal sign
C0234376 BXGD004659 Action Tremor Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0234533 BXGD004687 Generalized seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0234985 BXGD004708 Mental deterioration Mental Disorders
C0235782 BXGD004769 Gallbladder Carcinoma Digestive System Diseases; Neoplasms
C0235974 BXGD004796 Pancreatic carcinoma Digestive System Diseases; Neoplasms; Endocrine System Diseases
C0235991 BXGD004802 Small for gestational age (disorder) Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications
C0238301 BXGD004909 Cancer of Nasopharynx Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases
C0238621 BXGD004947 Aminoaciduria Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C0239105 BXGD004962 Conjunctival telangiectasis
C0239998 BXGD005012 Recurrent infections Pathological Conditions, Signs and Symptoms; Infections; Musculoskeletal Diseases
C0240538 BXGD005041 Convex nasal ridge
C0240912 BXGD005062 Vertical Talus Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0241267 BXGD005091 Absence of subcutaneous fat
C0241355 BXGD005092 Small testicle
C0242379 BXGD005157 Malignant neoplasm of lung Neoplasms; Respiratory Tract Diseases
C0242383 BXGD005160 Age related macular degeneration Eye Diseases
C0262444 BXGD005244 Abnormality of the dentition Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
C0263485 BXGD005313 Clastothrix Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
C0263490 BXGD005314 Brittle hair
C0263523 BXGD005320 Micronychia (disorder) Skin and Connective Tissue Diseases
C0263530 BXGD005321 Longitudinal split nail Skin and Connective Tissue Diseases
C0266544 BXGD005691 Microcornea Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0266929 BXGD005722 Chronic Periodontitis Stomatognathic Diseases
C0268135 BXGD005831 Xeroderma pigmentosum, group A Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
C0268136 BXGD005832 Xeroderma pigmentosum, group B Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
C0268138 BXGD005833 Xeroderma Pigmentosum, Complementation Group D Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
C0268141 BXGD005835 Xeroderma pigmentosum, group G Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
C0268398 BXGD005933 Familial lichen amyloidosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
C0270685 BXGD006084 Cerebral calcification Nutritional and Metabolic Diseases; Nervous System Diseases
C0270922 BXGD006134 Peripheral demyelinating neuropathy Immune System Diseases; Nervous System Diseases
C0271160 BXGD006166 Cortical cataract Eye Diseases
C0278498 BXGD006521 Malignant neoplasm of stomach stage IV
C0278510 BXGD006526 Childhood Medulloblastoma Neoplasms
C0278877 BXGD006608 Adult Meningioma Neoplasms; Nervous System Diseases
C0278878 BXGD006609 Adult Glioblastoma Neoplasms
C0278983 BXGD006617 Non-small cell lung cancer stage IIIA
C0278996 BXGD006621 Malignant Head and Neck Neoplasm Neoplasms
C0279000 BXGD006622 Liver and Intrahepatic Biliary Tract Carcinoma Digestive System Diseases; Neoplasms
C0279626 BXGD006657 Squamous cell carcinoma of esophagus Digestive System Diseases; Neoplasms
C0279628 BXGD006659 Adenocarcinoma Of Esophagus Digestive System Diseases; Neoplasms
C0279671 BXGD006677 Cervical Squamous Cell Carcinoma Neoplasms; Female Urogenital Diseases and Pregnancy Complications
C0279702 BXGD006685 Conventional (Clear Cell) Renal Cell Carcinoma Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0280313 BXGD006737 Squamous cell carcinoma of oropharynx Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases
C0280474 BXGD006748 Childhood Glioblastoma Neoplasms
C0302511 BXGD006849 Small for gestational age fetus Pathological Conditions, Signs and Symptoms
C0302592 BXGD006851 Cervix carcinoma Neoplasms; Female Urogenital Diseases and Pregnancy Complications
C0333068 BXGD006920 Flexion contracture Musculoskeletal Diseases
C0333873 BXGD006971 Squamous intraepithelial lesion Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications
C0333983 BXGD006975 Hyperplastic Polyp Pathological Conditions, Signs and Symptoms
C0338656 BXGD007211 Impaired cognition Mental Disorders
C0339182 BXGD007229 Ankyloblepharon Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0345392 BXGD007732 Congenital kyphoscoliosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0345904 BXGD007745 Malignant neoplasm of liver Digestive System Diseases; Neoplasms
C0345905 BXGD007746 Intrahepatic Cholangiocarcinoma Neoplasms
C0345967 BXGD007756 Malignant mesothelioma Neoplasms; Respiratory Tract Diseases
C0346647 BXGD007832 Malignant neoplasm of pancreas Digestive System Diseases; Neoplasms; Endocrine System Diseases
C0346976 BXGD007838 Secondary malignant neoplasm of pancreas Digestive System Diseases; Neoplasms; Endocrine System Diseases
C0349506 BXGD007912 Photosensitivity of skin Skin and Connective Tissue Diseases
C0349566 BXGD007928 Squamous cell carcinoma of tongue Neoplasms; Stomatognathic Diseases
C0349588 BXGD007933 Short stature
C0376358 BXGD007992 Malignant neoplasm of prostate Neoplasms; Male Urogenital Diseases
C0392777 BXGD008068 Poikiloderma Pathological Conditions, Signs and Symptoms
C0392784 BXGD008069 Dermatofibrosarcoma Protuberans Neoplasms
C0393706 BXGD008126 Early infantile epileptic encephalopathy with suppression bursts Nervous System Diseases
C0401151 BXGD008274 Chronic diarrhea Pathological Conditions, Signs and Symptoms; Digestive System Diseases
C0409348 BXGD008384 Flexion contracture of proximal interphalangeal joint
C0423224 BXGD008475 Sunken eyes Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0423250 BXGD008476 Corneal stromal opacities Eye Diseases
C0423757 BXGD008504 Thin skin
C0423813 BXGD008513 Splits in nails (finding)
C0423820 BXGD008514 Ridged nails
C0423867 BXGD008517 Fine hair
C0424230 BXGD008522 Motor retardation Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
C0424711 BXGD008541 Orbital separation diminished
C0426980 BXGD008599 Motor symptoms
C0431368 BXGD008673 Partial agenesis of corpus callosum Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0431659 BXGD008699 Hypoplasia of scrotum
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
C0476089 BXGD008977 Endometrial Carcinoma Neoplasms; Female Urogenital Diseases and Pregnancy Complications
C0494261 BXGD009023 Combined immunodeficiency Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
C0496930 BXGD009051 Neoplasm of uncertain or unknown behavior of bladder Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0520680 BXGD009102 Sleep Apnea, Central Respiratory Tract Diseases; Nervous System Diseases
C0521158 BXGD009130 Recurrent tumor
C0521525 BXGD009139 Short neck
C0521585 BXGD009145 Gastrointestinal mucositis Digestive System Diseases; Stomatognathic Diseases
C0521707 BXGD009166 Bilateral cataracts (disorder) Eye Diseases
C0524524 BXGD009228 Pseudoaphakia Eye Diseases
C0524528 BXGD009229 Pervasive Development Disorder Mental Disorders
C0541764 BXGD009259 Delayed bone age
C0546837 BXGD009343 Malignant neoplasm of esophagus Digestive System Diseases; Neoplasms
C0549473 BXGD009384 Thyroid carcinoma Neoplasms; Endocrine System Diseases
C0553723 BXGD009416 Squamous cell carcinoma of skin Neoplasms; Skin and Connective Tissue Diseases
C0557874 BXGD009444 Global developmental delay
C0574769 BXGD009505 Loss of scalp hair Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
C0575158 BXGD009515 Kyphoscoliosis deformity of spine Musculoskeletal Diseases
C0585442 BXGD009593 Osteosarcoma of bone Neoplasms
C0595989 BXGD009632 Carcinoma of larynx Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
C0596263 BXGD009639 Carcinogenesis Pathological Conditions, Signs and Symptoms; Neoplasms
C0600033 BXGD009682 Acquired Kyphoscoliosis Musculoskeletal Diseases
C0600139 BXGD009695 Prostate carcinoma Neoplasms; Male Urogenital Diseases
C0677886 BXGD009734 Epithelial ovarian cancer Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
C0677949 BXGD009740 Stage III Colorectal Cancer Digestive System Diseases; Neoplasms
C0678222 BXGD009749 Breast Carcinoma Neoplasms; Skin and Connective Tissue Diseases
C0678230 BXGD009750 Congenital Epicanthus
C0684249 BXGD009790 Carcinoma of lung Neoplasms; Respiratory Tract Diseases
C0686619 BXGD009835 Secondary malignant neoplasm of lymph node Pathological Conditions, Signs and Symptoms; Neoplasms
C0699790 BXGD009866 Colon Carcinoma Digestive System Diseases; Neoplasms
C0699791 BXGD009867 Stomach Carcinoma Digestive System Diseases; Neoplasms
C0699885 BXGD009869 Carcinoma of bladder Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0699893 BXGD009871 Skin carcinoma Neoplasms; Skin and Connective Tissue Diseases
C0746883 BXGD010153 Febrile Neutropenia Hemic and Lymphatic Diseases
C0751038 BXGD010301 Cockayne Syndrome, Type II Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
C0751039 BXGD010302 Cockayne Syndrome, Type I Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
C0751396 BXGD010425 Well Differentiated Oligodendroglioma Neoplasms
C0751688 BXGD010551 Malignant Squamous Cell Neoplasm Neoplasms
C0751837 BXGD010604 Gait Ataxia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0850666 BXGD010901 Infection caused by Helicobacter pylori Infections
C0853879 BXGD010982 Invasive carcinoma of breast Neoplasms; Skin and Connective Tissue Diseases
C0855197 BXGD011079 Malignant Testicular Germ Cell Tumor Neoplasms; Male Urogenital Diseases; Endocrine System Diseases
C0870082 BXGD011309 Hyperkeratosis Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
C0878544 BXGD011368 Cardiomyopathies Cardiovascular Diseases
C0878555 BXGD011370 Diffuse panbronchiolitis Infections; Respiratory Tract Diseases
C0878787 BXGD011392 Growth failure
C0917801 BXGD011412 Sleeplessness Nervous System Diseases; Mental Disorders
C0919267 BXGD011426 ovarian neoplasm Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
C1140680 BXGD011718 Malignant neoplasm of ovary Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
C1168401 BXGD011792 Squamous cell carcinoma of the head and neck Neoplasms
C1176475 BXGD011798 Ductal Carcinoma Neoplasms
C1184919 BXGD011799 Thoracic kyphosis Musculoskeletal Diseases
C1261473 BXGD011855 Sarcoma Neoplasms
C1269955 BXGD012005 Tumor Cell Invasion
C1275122 BXGD012060 Familial multiple trichoepitheliomata Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases
C1301937 BXGD012300 Talipes Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C1302401 BXGD012303 Adenoma of large intestine Digestive System Diseases; Neoplasms
C1306459 BXGD012361 Primary malignant neoplasm Neoplasms
C1306460 BXGD012362 Primary malignant neoplasm of lung Neoplasms; Respiratory Tract Diseases
C1306503 BXGD012363 Congenital exomphalos Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C1328440 BXGD012466 Abnormality of amino acid metabolism
C1328504 BXGD012469 Hormone refractory prostate cancer Neoplasms; Male Urogenital Diseases
C1328587 BXGD012473 Panhypogammaglobulinemia
C1332201 BXGD012502 Adult Diffuse Large B-Cell Lymphoma Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C1332206 BXGD012504 Adult Lymphoma Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C1332977 BXGD012569 Childhood Leukemia Neoplasms
C1332979 BXGD012571 Childhood Lymphoma Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C1332986 BXGD012574 Childhood Osteosarcoma Neoplasms
C1333015 BXGD012581 Childhood Kidney Wilms Tumor Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C1333990 BXGD012670 Hereditary Nonpolyposis Colorectal Cancer Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
C1336076 BXGD012828 Sporadic Breast Carcinoma Neoplasms; Skin and Connective Tissue Diseases
C1336527 BXGD012847 Carcinoma of urinary bladder, superficial Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C1336735 BXGD012856 Treatment related acute myeloid leukaemia
C1384666 BXGD012948 hearing impairment Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C1387005 BXGD012953 Penis agenesis Male Urogenital Diseases
C1458155 BXGD013136 Mammary Neoplasms Neoplasms; Skin and Connective Tissue Diseases
C1510586 BXGD013176 Autism Spectrum Disorders Mental Disorders
C1512409 BXGD013188 Hepatocarcinogenesis Pathological Conditions, Signs and Symptoms; Neoplasms
C1527344 BXGD013275 Dysphonia Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
C1527349 BXGD013277 Ductal Breast Carcinoma Neoplasms
C1531647 BXGD013301 Cerebral ventriculomegaly Nervous System Diseases
C1611743 BXGD013456 Familial (FPAH)
C1621958 BXGD013468 Glioblastoma Multiforme Neoplasms
C1708349 BXGD013597 Hereditary Diffuse Gastric Cancer Digestive System Diseases; Neoplasms
C1762616 BXGD013753 Meningioma, benign, no ICD-O subtype Neoplasms; Nervous System Diseases
C1827293 BXGD013768 Carcinoma of urinary bladder, invasive Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C1833561 BXGD013934 UV-Sensitive Syndrome Skin and Connective Tissue Diseases
C1836735 BXGD014155 hypopigmented skin patch Skin and Connective Tissue Diseases
C1836830 BXGD014165 Developmental regression Mental Disorders
C1836933 BXGD014181 Low-set nipples
C1837397 BXGD014227 Severe global developmental delay
C1837404 BXGD014229 High, narrow palate
C1837758 BXGD014265 Bird-like facies
C1837770 BXGD014270 Sparse hair
C1842774 BXGD014536 Hypermelanotic macule
C1843392 BXGD014582 Death in childhood
C1843496 BXGD014588 Bilateral microphthalmos Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C1845847 BXGD014760 Coarse facial features Pathological Conditions, Signs and Symptoms
C1846149 BXGD014786 Intellectual disability, progressive Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C1849341 BXGD015040 Triangular mouth
C1849367 BXGD015046 Nasal bridge wide
C1853102 BXGD015300 Cerebrooculofacioskeletal Syndrome 2 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C1853246 BXGD015323 Eversion of lower lip
C1854699 BXGD015425 Diffuse cerebellar atrophy
C1854885 BXGD015440 Cerebral dysmyelination
C1855285 BXGD015483 Protruding ear
C1856963 BXGD015662 Fragile nails Pathological Conditions, Signs and Symptoms
C1857042 BXGD015669 Sparse scalp hair
C1857656 BXGD015731 Prematurely aged appearance
C1857949 BXGD015758 Prominent metopic ridge
C1858120 BXGD015774 Generalized hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1858160 BXGD015777 CRANIOSYNOSTOSIS, TYPE 2 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C1858430 BXGD015792 Death in infancy
C1859077 BXGD015849 Aplasia/Hypoplasia of the nails Pathological Conditions, Signs and Symptoms
C1859312 BXGD015873 CAMFAK syndrome Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases
C1860224 BXGD015967 ABLEPHARON-MACROSTOMIA SYNDROME Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Stomatognathic Diseases
C1862475 BXGD016132 Abnormality of retinal pigmentation
C1866504 BXGD016406 Photosensitive Trichothiodystrophy 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
C1868085 BXGD016486 Craniofacial hyperostosis
C1868683 BXGD016526 B-CELL MALIGNANCY, LOW-GRADE
C1955934 BXGD016614 Trichothiodystrophy Syndromes Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
C1956346 BXGD016627 Coronary Artery Disease Cardiovascular Diseases
C1961102 BXGD016673 Precursor Cell Lymphoblastic Leukemia Lymphoma Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C1962966 BXGD016678 Retinopathy, CTCAE
C1963094 BXGD016681 Dry Skin, CTCAE
C1963165 BXGD016685 Malabsorption, CTCAE
C1963184 BXGD016688 Nystagmus, CTCAE 3.0
C1968564 BXGD016714 Defective DNA repair after ultraviolet radiation damage
C1968565 BXGD016715 Numerous pigmented freckles
C2145472 BXGD016931 Urothelial Carcinoma Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C2169795 BXGD016934 Recurrent bronchopulmonary infections
C2239176 BXGD016965 Liver carcinoma Digestive System Diseases; Neoplasms
C2347761 BXGD017049 Childhood Myelodysplastic Syndrome Hemic and Lymphatic Diseases
C2674608 BXGD017250 Feeding difficulties in infancy
C2711227 BXGD017478 Steatohepatitis Digestive System Diseases
C2717836 BXGD017510 Steroid Sulfatase Deficiency Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
C2752147 BXGD017769 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
C2826055 BXGD017784 Mixed phenotype acute leukemia T/myeloid
C2919142 BXGD017867 Short Stature, CTCAE
C2931038 BXGD017944 Pancreatic carcinoma, familial Digestive System Diseases; Neoplasms; Endocrine System Diseases
C2931277 BXGD017995 Pena Shokeir syndrome Type 2 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C2931822 BXGD018068 Nasopharyngeal carcinoma Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases
C2936904 BXGD018150 Opitz GBBB Syndrome, X-Linked Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Stomatognathic Diseases
C2986665 BXGD018237 Early-Stage Breast Carcinoma Neoplasms; Skin and Connective Tissue Diseases
C3146250 BXGD018259 Stage III Colorectal Cancer AJCC v7
C3266262 BXGD018600 Multiple Chronic Conditions Pathological Conditions, Signs and Symptoms
C3278923 BXGD018748 Dilated ventricles (finding)
C3279222 BXGD018751 Aplasia/Hypoplasia of the cerebellum
C3463824 BXGD018899 MYELODYSPLASTIC SYNDROME Hemic and Lymphatic Diseases
C3469521 BXGD018910 FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
C3494422 BXGD018966 Retrognathia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
C3539878 BXGD019087 Triple Negative Breast Neoplasms Neoplasms; Skin and Connective Tissue Diseases
C3551426 BXGD019146 Dystrophic fingernails
C3665347 BXGD019279 Visual Impairment Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C3665419 BXGD019285 intracranial glioma Neoplasms; Nervous System Diseases
C3714745 BXGD019427 Malabsorption Digestive System Diseases
C3714756 BXGD019429 Intellectual Disability Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C3811653 BXGD019662 Experimental Organism Basal Cell Carcinoma Neoplasms
C3887461 BXGD019876 Head and Neck Carcinoma Neoplasms
C3900098 BXGD020106 Adult Myelodysplastic Syndrome Hemic and Lymphatic Diseases
C4021797 BXGD020787 Abnormality of the thorax
C4022018 BXGD020872 Telangiectasia of the skin Cardiovascular Diseases
C4022736 BXGD020972 Impaired social reciprocity
C4023616 BXGD021229 Abnormality of immune system physiology
C4023722 BXGD021253 Abnormality of hair texture
C4023759 BXGD021259 Flat nasal alae
C4023792 BXGD021263 Paraplegia/paraparesis
C4024892 BXGD021459 Congenital exfoliative erythroderma Skin and Connective Tissue Diseases
C4024949 BXGD021496 Generalized hyperreflexia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C4024961 BXGD021503 Metachromatic leukodystrophy variant
C4025252 BXGD021607 Abnormal nasal morphology
C4025579 BXGD021676 Large beaked nose
C4025797 BXGD021795 Abnormality of prenatal development or birth
C4048328 BXGD021903 cervical cancer Neoplasms; Female Urogenital Diseases and Pregnancy Complications
C4073178 BXGD022060 Tiger tail banding
C4284013 BXGD022428 Primary cholangiocarcinoma of intrahepatic biliary tract Neoplasms
C4304411 BXGD022575 Xeroderma pigmentosum and Cockayne syndrome complex Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases
C4521042 BXGD023055 Complete Trisomy 21 Syndrome Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C4524268 BXGD023104 Advanced lung cancer
C4525297 BXGD023131 Stage 0 Gallbladder Cancer AJCC v8
C4525300 BXGD023132 Stage IIA Gallbladder Cancer AJCC v8
C4525301 BXGD023133 Stage IIB Gallbladder Cancer AJCC v8
C4525302 BXGD023134 Stage III Gallbladder Cancer AJCC v8
C4525305 BXGD023135 Stage IV Gallbladder Cancer AJCC v8
C4531297 BXGD023215 Increased mean corpuscular hemoglobin concentration
C4551583 BXGD023361 Cerebral cortical atrophy
C4551686 BXGD023391 Malignant neoplasm of soft tissue Neoplasms
C4552100 BXGD023488 Lynch Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
C4553743 BXGD023548 Spasticity, CTCAE
C4553962 BXGD023553 Hyperkeratosis, CTCAE
C4554036 BXGD023557 Nystagmus, CTCAE 5.0
C4721453 BXGD023744 Peripheral Nervous System Diseases Nervous System Diseases
C4721532 BXGD023752 Lymphoma, Non-Hodgkin, Familial Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C4721579 BXGD023759 Secondary malignant neoplasm of colon and/or rectum Digestive System Diseases; Neoplasms
C4721610 BXGD023760 Carcinoma, Ovarian Epithelial Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
C4721806 BXGD023772 Carcinoma, Basal Cell Neoplasms
C4722085 BXGD023788 Malignant neoplasm of colon and/or rectum
C4722518 BXGD023806 Triple-Negative Breast Carcinoma Neoplasms; Skin and Connective Tissue Diseases
C4725076 BXGD023827 Advanced Urothelial Carcinoma
C4732857 BXGD023906 Hypoplasia of mandible relative to maxilla Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
C4733093 BXGD023908 progesterone receptor-negative breast cancer
C4733094 BXGD023909 progesterone receptor-positive breast cancer
C4744564 BXGD023947 Metastatic Colorectal Carcinoma Digestive System Diseases; Neoplasms
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
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