Showing entry for Microphthalmia-associated transcription factor


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT005096
Protein NameMicrophthalmia-associated transcription factor
Uniport IdO75030
GeneMITF
Gene Id4286
DomainDUF3371; HLH; MITF_TFEB_C_3_N
Pfam PF11851   PF00010   PF15951  
OrganismHomo sapiens (Human)
Target protein  affiliated  biological  pathways
KEGG
Class Subclass KEGG Id Pathway Name
4. Cellular Processes 4.1 Transport and catabolism hsa04137 Mitophagy - animal
5. Organismal Systems 5.8 Development hsa04380 Osteoclast differentiation
5. Organismal Systems 5.2 Endocrine system hsa04916 Melanogenesis
6. Human Diseases 6.1 Cancers: Overview hsa05200 Pathways in cancer
6. Human Diseases 6.1 Cancers: Overview hsa05202 Transcriptional misregulation in cancer
6. Human Diseases 6.2 Cancers: Specific types hsa05218 Melanoma
Gene Ontology
GO Type GO Id Gene Ontology
Biological Process GO:0046849 bone remodeling
Biological Process GO:0043010 camera-type eye development
Biological Process GO:0044336 canonical Wnt signaling pathway involved in negative regulation of apoptotic process
Biological Process GO:0045165 cell fate commitment
Biological Process GO:0030318 melanocyte differentiation
Biological Process GO:0030336 negative regulation of cell migration
Biological Process GO:0000122 negative regulation of transcription by RNA polymerase II
Biological Process GO:0030316 osteoclast differentiation
Biological Process GO:2000144 positive regulation of DNA-templated transcription, initiation
Biological Process GO:0010628 positive regulation of gene expression
Biological Process GO:0045893 positive regulation of transcription, DNA-templated
Biological Process GO:0045944 positive regulation of transcription by RNA polymerase II
Biological Process GO:0065003 protein-containing complex assembly
Biological Process GO:0042127 regulation of cell population proliferation
Biological Process GO:0045670 regulation of osteoclast differentiation
Biological Process GO:2001141 regulation of RNA biosynthetic process
Biological Process GO:0006355 regulation of transcription, DNA-templated
Biological Process GO:0006351 transcription, DNA-templated
molecular function GO:0003682 chromatin binding
molecular function GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific
molecular function GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
molecular function GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific
molecular function GO:0070888 E-box binding
molecular function GO:0046983 protein dimerization activity
molecular function GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
cellular component GO:0005737 cytoplasm
cellular component GO:0000790 nuclear chromatin
cellular component GO:0005654 nucleoplasm
cellular component GO:0005634 nucleus
cellular component GO:0032991 protein-containing complex
Reactome
Pathway Id Pathway Name
R-HSA-2990846 SUMOylation
R-HSA-3108232 SUMO E3 ligases SUMOylate target proteins
R-HSA-3232118 SUMOylation of transcription factors
R-HSA-392499 Metabolism of proteins
R-HSA-597592 Post-translational protein modification
Target protein-related  diseases
Disease
CUI Id BXGD Id Disease Name Disease Class
C0000737 BXGD000005 Abdominal Pain Pathological Conditions, Signs and Symptoms
C0000768 BXGD000007 Congenital Abnormality Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0001916 BXGD000089 Albinism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
C0002792 BXGD000129 anaphylaxis Immune System Diseases
C0002793 BXGD000130 Anaplasia Pathological Conditions, Signs and Symptoms; Neoplasms
C0003119 BXGD000177 Anophthalmos Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0003873 BXGD000236 Rheumatoid Arthritis Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases
C0005745 BXGD000331 Blepharoptosis Eye Diseases
C0006826 BXGD000408 Malignant Neoplasms Neoplasms
C0007134 BXGD000443 Renal Cell Carcinoma Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0007621 BXGD000468 Neoplastic Cell Transformation Pathological Conditions, Signs and Symptoms; Neoplasms
C0009363 BXGD000599 Congenital ocular coloboma (disorder) Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0009681 BXGD000621 Anomalous pulmonary artery Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases
C0009806 BXGD000633 Constipation Pathological Conditions, Signs and Symptoms
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
C0011847 BXGD000749 Diabetes Endocrine System Diseases
C0011849 BXGD000751 Diabetes Mellitus Nutritional and Metabolic Diseases; Endocrine System Diseases
C0011989 BXGD000765 Camurati-Engelmann Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0014772 BXGD000948 Red Blood Cell Count measurement
C0016689 BXGD001073 Freckles Skin and Connective Tissue Diseases
C0017638 BXGD001132 Glioma Neoplasms
C0018498 BXGD001195 Hair Color
C0018784 BXGD001220 Sensorineural Hearing Loss (disorder) Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C0018801 BXGD001226 Heart failure Cardiovascular Diseases
C0018802 BXGD001227 Congestive heart failure Cardiovascular Diseases
C0018923 BXGD001248 Hemangiosarcoma Neoplasms
C0018935 BXGD001252 Hematocrit procedure
C0019562 BXGD001336 Von Hippel-Lindau Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System 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
C0020456 BXGD001392 Hyperglycemia Nutritional and Metabolic Diseases
C0020490 BXGD001403 Hyperopia Eye Diseases
C0021843 BXGD001520 Intestinal Obstruction Digestive System Diseases
C0022283 BXGD001533 Incontinentia Pigmenti Achromians Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
C0022665 BXGD001573 Kidney Neoplasm Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0023465 BXGD001656 Acute monocytic leukemia Neoplasms
C0023467 BXGD001658 Leukemia, Myelocytic, Acute Neoplasms
C0023508 BXGD001675 White Blood Cell Count procedure
C0024623 BXGD001791 Malignant neoplasm of stomach Digestive System Diseases; Neoplasms
C0024899 BXGD001812 Mastocytosis Neoplasms; Skin and Connective Tissue Diseases; Immune System Diseases
C0025202 BXGD001832 melanoma Neoplasms
C0025218 BXGD001836 Chloasma Skin and Connective Tissue Diseases
C0025500 BXGD001874 Mesothelioma Neoplasms
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
C0026351 BXGD001900 Moderate intellectual disability Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0026764 BXGD001928 Multiple Myeloma Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
C0027051 BXGD001963 Myocardial Infarction Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0027627 BXGD002006 Neoplasm Metastasis Pathological Conditions, Signs and Symptoms; Neoplasms
C0027651 BXGD002009 Neoplasms Neoplasms
C0027672 BXGD002020 Neoplastic Syndromes, Hereditary Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
C0027765 BXGD002033 nervous system disorder Nervous System Diseases
C0027960 BXGD002062 Nevus Neoplasms
C0027962 BXGD002064 Melanocytic nevus Neoplasms
C0028259 BXGD002073 Nodule
C0028738 BXGD002081 Nystagmus Eye Diseases; Nervous System Diseases
C0029454 BXGD002155 Osteopetrosis Musculoskeletal Diseases
C0029456 BXGD002157 Osteoporosis Nutritional and Metabolic Diseases; Musculoskeletal Diseases
C0030297 BXGD002204 Pancreatic Neoplasm Digestive System Diseases; Neoplasms; Endocrine System Diseases
C0030421 BXGD002218 Paraganglioma Neoplasms
C0031511 BXGD002304 Pheochromocytoma Neoplasms
C0033375 BXGD002405 Prolactinoma Neoplasms; Nervous System Diseases; Endocrine System Diseases
C0033377 BXGD002406 Ptosis Pathological Conditions, Signs and Symptoms
C0033578 BXGD002408 Prostatic Neoplasms Neoplasms; Male Urogenital Diseases
C0035309 BXGD002530 Retinal Diseases Eye Diseases
C0036305 BXGD002593 Schamberg Disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
C0037274 BXGD002676 Dermatologic disorders Skin and Connective Tissue Diseases
C0037822 BXGD002706 Speech Disorders Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0038273 BXGD002743 Stereotypic Movement Disorder Mental Disorders
C0038356 BXGD002747 Stomach Neoplasms Digestive System Diseases; Neoplasms
C0038379 BXGD002752 Strabismus Eye Diseases; Nervous System Diseases
C0042900 BXGD003012 Vitiligo Skin and Connective Tissue Diseases
C0078917 BXGD003054 Albinism, Ocular Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
C0078918 BXGD003055 Albinism, Oculocutaneous Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
C0078921 BXGD003056 Albinism, Tyrosinase-Negative Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
C0078922 BXGD003057 Albinism, Tyrosinase-Positive Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
C0078923 BXGD003058 Albinism, Yellow-Mutant Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
C0079218 BXGD003066 Fibromatosis, Aggressive Neoplasms
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
C0080024 BXGD003104 Piebaldism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
C0085281 BXGD003152 Addictive 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
C0151779 BXGD003473 Cutaneous Melanoma Neoplasms; Skin and Connective Tissue Diseases
C0151891 BXGD003499 Retinal depigmentation Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases
C0151908 BXGD003502 Dry skin Skin and Connective Tissue 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
C0162429 BXGD003942 Malnutrition Nutritional and Metabolic Diseases
C0162835 BXGD003989 Hypopigmentation disorder Skin and Connective Tissue Diseases
C0178874 BXGD004037 Tumor Progression Pathological Conditions, Signs and Symptoms
C0202117 BXGD004074 Low density lipoprotein cholesterol measurement
C0206138 BXGD004158 CREST Syndrome Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Cardiovascular Diseases
C0206633 BXGD004198 Angiomyolipoma Neoplasms
C0206651 BXGD004215 Clear Cell Sarcoma of Soft Tissue Neoplasms
C0206698 BXGD004248 Cholangiocarcinoma Neoplasms
C0206735 BXGD004280 Melanoma, Amelanotic Neoplasms
C0220613 BXGD004297 Adult Soft Tissue Sarcoma
C0220645 BXGD004307 Childhood Soft Tissue Sarcoma
C0221013 BXGD004363 Mastocytosis, Systemic Neoplasms; Immune System Diseases
C0221262 BXGD004426 Poliosis Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
C0221354 BXGD004446 Frontal bossing Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0221355 BXGD004447 Macrocephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0234133 BXGD004624 Extrapyramidal sign
C0234632 BXGD004691 Reduced visual acuity Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0235974 BXGD004796 Pancreatic carcinoma Digestive System Diseases; Neoplasms; Endocrine System Diseases
C0238198 BXGD004893 Gastrointestinal Stromal Tumors Digestive System Diseases; Neoplasms
C0241961 BXGD005128 Angiomyolipoma of kidney Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0263498 BXGD005316 Premature canities
C0266292 BXGD005643 Congenital anomaly of the kidney Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0266610 BXGD005699 Preauricular dimple Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
C0268731 BXGD006029 Renal glomerular disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0278592 BXGD006544 Adult Angiosarcoma Neoplasms
C0278883 BXGD006614 Metastatic melanoma Neoplasms
C0279702 BXGD006685 Conventional (Clear Cell) Renal Cell Carcinoma Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0279988 BXGD006707 Childhood Angiosarcoma Neoplasms
C0312414 BXGD006886 Menstrual spotting
C0334463 BXGD007076 Malignant Fibrous Histiocytoma Neoplasms
C0344312 BXGD007665 White forelock Skin and Connective Tissue Diseases
C0346040 BXGD007769 Stage 0 Skin Melanoma Neoplasms; Skin and Connective Tissue Diseases
C0346053 BXGD007770 Atypical fibroxanthoma of skin Neoplasms
C0346647 BXGD007832 Malignant neoplasm of pancreas Digestive System Diseases; Neoplasms; Endocrine System Diseases
C0376358 BXGD007992 Malignant neoplasm of prostate Neoplasms; Male Urogenital Diseases
C0391816 BXGD008010 Tietz syndrome Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
C0410005 BXGD008407 Nodular fasciitis Neoplasms; Musculoskeletal Diseases; Nervous System Diseases
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
C0429097 BXGD008648 QRS complex feature
C0431447 BXGD008690 Synophrys Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
C0431478 BXGD008692 Posteriorly rotated ear
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
C0518015 BXGD009068 Hemoglobin measurement
C0549567 BXGD009387 Pigmentation Disorders Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
C0578626 BXGD009551 blue iris (physical finding)
C0581883 BXGD009575 Complete Hearing Loss Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C0596263 BXGD009639 Carcinogenesis Pathological Conditions, Signs and Symptoms; Neoplasms
C0596887 BXGD009648 mathematical ability
C0600139 BXGD009695 Prostate carcinoma Neoplasms; Male Urogenital Diseases
C0686619 BXGD009835 Secondary malignant neoplasm of lymph node Pathological Conditions, Signs and Symptoms; Neoplasms
C0699791 BXGD009867 Stomach Carcinoma Digestive System Diseases; Neoplasms
C0740457 BXGD010000 Malignant neoplasm of kidney Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0745103 BXGD010114 Hyperlipoproteinemia Type IIa Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C0751068 BXGD010310 Deafness, Acquired Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C0949541 BXGD011578 Hurthle Cell Tumor Neoplasms
C1261473 BXGD011855 Sarcoma Neoplasms
C1263846 BXGD011897 Attention deficit hyperactivity disorder Mental Disorders
C1266042 BXGD011938 Chromophobe Renal Cell Carcinoma Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C1266043 BXGD011939 Sarcomatoid Renal Cell Carcinoma Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C1266044 BXGD011940 Collecting Duct Carcinoma of the Kidney Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C1266127 BXGD011968 Histiocytoma, Angiomatoid Fibrous Neoplasms
C1269955 BXGD012005 Tumor Cell Invasion
C1285162 BXGD012167 Degenerative disorder Pathological Conditions, Signs and Symptoms
C1300127 BXGD012268 Perivascular Epithelioid Cell Neoplasms Neoplasms
C1305855 BXGD012348 Body mass index
C1306459 BXGD012361 Primary malignant neoplasm Neoplasms
C1306837 BXGD012377 Papillary Renal Cell Carcinoma Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C1328931 BXGD012477 Multiple lentigines
C1332614 BXGD012539 Angiosarcoma of the breast Neoplasms; Skin and Connective Tissue Diseases
C1333065 BXGD012588 Lung Clear Cell Tumor
C1337036 BXGD012879 Renal Cell Carcinoma Associated with Xp11.2 Translocations/TFE3 Gene Fusions
C1378050 BXGD012931 Oncocytic Neoplasm
C1378703 BXGD012933 Renal carcinoma Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C1384666 BXGD012948 hearing impairment Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C1397307 BXGD012996 Cardiac fibrosis
C1456781 BXGD013123 Benign melanocytic nevus Neoplasms
C1458155 BXGD013136 Mammary Neoplasms Neoplasms; Skin and Connective Tissue Diseases
C1510472 BXGD013170 Drug Dependence Chemically-Induced Disorders; Mental Disorders
C1510502 BXGD013175 Oxyphilic Adenoma Neoplasms
C1512419 BXGD013189 Hereditary Melanoma Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases
C1561643 BXGD013363 Chronic Kidney Diseases Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C1567741 BXGD013414 Alport Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases
C1611743 BXGD013456 Familial (FPAH)
C1704421 BXGD013558 Skin Pigmentation Disorder Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
C1708353 BXGD013599 Hereditary Paraganglioma-Pheochromocytoma Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
C1834055 BXGD013953 Underdeveloped nasal alae
C1836735 BXGD014155 hypopigmented skin patch Skin and Connective Tissue Diseases
C1836736 BXGD014156 White eyelashes
C1836737 BXGD014157 White eyebrow
C1836806 BXGD014162 Mild microcephaly
C1837463 BXGD014235 Narrow face
C1840077 BXGD014434 Anteverted nostril
C1845069 BXGD014706 ALBINISM, OCULAR, WITH LATE-ONSET SENSORINEURAL DEAFNESS (disorder) Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
C1847800 BXGD014889 Waardenburg Syndrome Type 1 Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C1847835 BXGD014892 VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) Skin and Connective Tissue Diseases
C1848519 BXGD014932 WAARDENBURG SYNDROME, TYPE 4A Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
C1848606 BXGD014950 Vestibular hypofunction
C1849367 BXGD015046 Nasal bridge wide
C1849923 BXGD015088 Generalized hypopigmentation Skin and Connective Tissue Diseases
C1854113 BXGD015382 Prominent nasal bridge
C1855331 BXGD015488 Olfactory lobe agenesis
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
C1860344 BXGD015981 Hypoplastic iris stroma
C1861403 BXGD016045 Variable expressivity
C1862475 BXGD016132 Abnormality of retinal pigmentation
C1863198 BXGD016154 ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS (disorder)
C1865244 BXGD016301 Shallow orbits Eye Diseases
C1865866 BXGD016345 Congenital sensorineural hearing loss Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C1876214 BXGD016567 ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
C1962966 BXGD016678 Retinopathy, CTCAE
C1963094 BXGD016681 Dry Skin, CTCAE
C1963184 BXGD016688 Nystagmus, CTCAE 3.0
C2076600 BXGD016912 Influenza due to Influenza A virus subtype H1N1 Infections; Respiratory Tract Diseases
C2239176 BXGD016965 Liver carcinoma Digestive System Diseases; Neoplasms
C2314896 BXGD017019 Familial Atypical Mole Melanoma Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
C2673946 BXGD017234 Foveal hypoplasia (finding)
C2676026 BXGD017321 Optic nerve dysplasia
C2700265 BXGD017464 Waardenburg Syndrome Type 2 Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C2700405 BXGD017466 WAARDENBURG SYNDROME, TYPE IIE Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C2717836 BXGD017510 Steroid Sulfatase Deficiency Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
C2931189 BXGD017972 Neural crest tumor Neoplasms; Endocrine System Diseases
C2931258 BXGD017991 Amaurosis congenita of Leber, type 1 Eye Diseases
C2939419 BXGD018178 Secondary Neoplasm Pathological Conditions, Signs and Symptoms; Neoplasms
C3152182 BXGD018461 Anterior chamber anomalies Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C3152204 BXGD018462 MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8
C3266262 BXGD018600 Multiple Chronic Conditions Pathological Conditions, Signs and Symptoms
C3266898 BXGD018606 Waardenburg Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C3278401 BXGD018739 Hypopigmentation of hair
C3665347 BXGD019279 Visual Impairment Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C3665473 BXGD019290 Bilateral Deafness Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C3665593 BXGD019294 Melanocytic nevus of skin Neoplasms
C3711374 BXGD019382 Nonsyndromic Deafness Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C3806221 BXGD019501 Giant melanosomes in melanocytes
C3887873 BXGD019922 Hearing Loss Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C3898127 BXGD020061 Non-Metastatic Childhood Soft Tissue Sarcoma
C4021806 BXGD020795 Prelingual sensorineural hearing impairment
C4021976 BXGD020852 Abnormality of the lymphatic system
C4025846 BXGD021826 Abnormality of vision
C4048329 BXGD021904 Immunosuppression
C4082305 BXGD022091 Deaf Mutism Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C4310625 BXGD022604 COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS
C4316813 BXGD022705 Dystopia canthorum Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C4518333 BXGD023017 Clear cell papillary renal cell carcinoma Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C4518356 BXGD023020 MiT family translocation renal cell carcinoma Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C4520679 BXGD023033 Abnormal macular morphology Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C4520764 BXGD023038 Stage 0 Cutaneous Melanoma AJCC v6 and v7
C4525234 BXGD023130 Xiphophorus Melanoma
C4551683 BXGD023389 Adrenal Gland Pheochromocytoma Neoplasms; Endocrine System Diseases
C4551687 BXGD023392 Sarcoma of soft tissue Neoplasms
C4554036 BXGD023557 Nystagmus, CTCAE 5.0
C4750999 BXGD024079 Ocular albinism with congenital sensorineural deafness Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0001428 Piperlongine 317.34
BXGC0012377 Nagilactone B 364.15
BXGC0017277 Aurin 290.09
BXGC0017843 N-(1,2,3,10-Tetramethoxy-9-Oxo-6,7-Dihydro-5H-Benzo[A]Heptalen-7-Yl)Acetamide 399.17
BXGC0025200 2-Anilinonaphthalene-1,4-Dione 249.08
BXGC0039520 [(3Ar,4S,6Z,9E,11S,11Ar)-11-Hydroxy-6,10-Dimethyl-3-Methylidene-2,8-Dioxo-4,5,11,11A-Tetrahydro-3Ah-Cyclodeca[B]Furan-4-Yl] (E)-2-Methylbut-2-Enoate 360.16
BXGC0049122 Arteannuin B 248.14
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