Showing entry for DNA excision repair protein ERCC-6


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT012716
Protein NameDNA excision repair protein ERCC-6
Uniport IdQ03468
GeneERCC6
Gene Id2074
DomainHelicase_C; SNF2_N
Pfam PF00271   PF00176  
OrganismHomo sapiens (Human)
Target protein  affiliated  biological  pathways
KEGG
Class Subclass KEGG Id Pathway Name
2. Genetic Information Processing 2.4 Replication and repair hsa03420 Nucleotide excision repair
Gene Ontology
GO Type GO Id Gene Ontology
Biological Process GO:0007256 activation of JNKK activity
Biological Process GO:0007257 activation of JUN kinase activity
Biological Process GO:0043044 ATP-dependent chromatin remodeling
Biological Process GO:0006284 base-excision repair
Biological Process GO:0000077 DNA damage checkpoint
Biological Process GO:0032508 DNA duplex unwinding
Biological Process GO:0006281 DNA repair
Biological Process GO:0097680 double-strand break repair via classical nonhomologous end joining
Biological Process GO:0008630 intrinsic apoptotic signaling pathway in response to DNA damage
Biological Process GO:0035264 multicellular organism growth
Biological Process GO:2001033 negative regulation of double-strand break repair via nonhomologous end joining
Biological Process GO:0022008 neurogenesis
Biological Process GO:0030182 neuron differentiation
Biological Process GO:0031175 neuron projection development
Biological Process GO:0045494 photoreceptor cell maintenance
Biological Process GO:0045739 positive regulation of DNA repair
Biological Process GO:0032786 positive regulation of DNA-templated transcription, elongation
Biological Process GO:1905168 positive regulation of double-strand break repair via homologous recombination
Biological Process GO:0045815 positive regulation of gene expression, epigenetic
Biological Process GO:0060261 positive regulation of transcription initiation from RNA polymerase II promoter
Biological Process GO:0006290 pyrimidine dimer repair
Biological Process GO:0032784 regulation of DNA-templated transcription, elongation
Biological Process GO:0010332 response to gamma radiation
Biological Process GO:0006979 response to oxidative stress
Biological Process GO:0000303 response to superoxide
Biological Process GO:0009636 response to toxic substance
Biological Process GO:0009411 response to UV
Biological Process GO:0010224 response to UV-B
Biological Process GO:0010165 response to X-ray
Biological Process GO:0000012 single strand break repair
Biological Process GO:0006366 transcription by RNA polymerase II
Biological Process GO:0006283 transcription-coupled nucleotide-excision repair
Biological Process GO:0006362 transcription elongation from RNA polymerase I promoter
molecular function GO:0005524 ATP binding
molecular function GO:0003682 chromatin binding
molecular function GO:0003677 DNA binding
molecular function GO:0008094 DNA-dependent ATPase activity
molecular function GO:0004386 helicase activity
molecular function GO:0044877 protein-containing complex binding
molecular function GO:0008022 protein C-terminus binding
molecular function GO:0047485 protein N-terminus binding
molecular function GO:0030296 protein tyrosine kinase activator activity
molecular function GO:0070063 RNA polymerase binding
cellular component GO:0005730 nucleolus
cellular component GO:0005654 nucleoplasm
cellular component GO:0005634 nucleus
cellular component GO:0090734 site of DNA damage
cellular component GO:0008023 transcription elongation factor complex
Reactome
Pathway Id Pathway Name
R-HSA-212165 Epigenetic regulation of gene expression
R-HSA-212165 Epigenetic regulation of gene expression
R-HSA-427389 ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression
R-HSA-5250913 Positive epigenetic regulation of rRNA expression
R-HSA-5250913 Positive epigenetic regulation of rRNA expression
R-HSA-5250924 B-WICH complex positively regulates rRNA expression
R-HSA-5696398 Nucleotide Excision Repair
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-73762 RNA Polymerase I Transcription Initiation
R-HSA-73854 RNA Polymerase I Promoter Clearance
R-HSA-73864 RNA Polymerase I Transcription
R-HSA-73894 DNA Repair
R-HSA-74160 Gene expression (Transcription)
R-HSA-74160 Gene expression (Transcription)
Target protein-related  diseases
Disease
CUI Id BXGD Id Disease Name Disease Class
C0001857 BXGD000085 AIDS related complex Infections; Immune System Diseases
C0001948 BXGD000091 Alcohol consumption Behavior and Behavior Mechanisms
C0003028 BXGD000170 Anhidrosis Skin and Connective Tissue Diseases
C0003811 BXGD000222 Cardiac Arrhythmia Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0003886 BXGD000238 Arthrogryposis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0004134 BXGD000256 Ataxia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0004238 BXGD000262 Atrial Fibrillation Pathological Conditions, Signs and Symptoms; Cardiovascular 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
C0005744 BXGD000330 Blepharophimosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0006142 BXGD000374 Malignant neoplasm of breast Neoplasms; Skin and Connective Tissue Diseases
C0006625 BXGD000401 Cachexia Pathological Conditions, Signs and Symptoms
C0006826 BXGD000408 Malignant Neoplasms Neoplasms
C0007102 BXGD000425 Malignant tumor of colon Digestive System Diseases; Neoplasms
C0007107 BXGD000428 Malignant neoplasm of larynx Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
C0007114 BXGD000431 Malignant neoplasm of skin Neoplasms; Skin and Connective Tissue Diseases
C0007120 BXGD000435 Bronchioloalveolar Adenocarcinoma Neoplasms
C0007787 BXGD000487 Transient Ischemic Attack Nervous System Diseases; Cardiovascular 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
C0009763 BXGD000628 Conjunctivitis Eye Diseases
C0009918 BXGD000636 Contracture of joint Musculoskeletal Diseases
C0010417 BXGD000670 Cryptorchidism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases
C0011334 BXGD000716 Dental caries Stomatognathic Diseases
C0013336 BXGD000815 Dwarfism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
C0013421 BXGD000837 Dystonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0013592 BXGD000857 Ectropion Eye Diseases
C0014175 BXGD000904 Endometriosis Female Urogenital Diseases and Pregnancy Complications
C0014390 BXGD000913 Entropion Eye Diseases
C0015544 BXGD001003 Failure to Thrive Pathological Conditions, Signs and Symptoms
C0015934 BXGD001026 Fetal Growth Retardation Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
C0016689 BXGD001073 Freckles Skin and Connective Tissue Diseases
C0017154 BXGD001097 Gastritis, Atrophic Digestive System Diseases
C0017639 BXGD001133 Gliosis Pathological Conditions, Signs and Symptoms
C0017921 BXGD001152 Glycogen storage disease type II Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C0018273 BXGD001189 Growth Disorders Pathological Conditions, Signs and Symptoms
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
C0018802 BXGD001227 Congestive heart failure Cardiovascular Diseases
C0019209 BXGD001305 Hepatomegaly Pathological Conditions, Signs and Symptoms; Digestive System Diseases
C0019348 BXGD001325 Herpes Simplex Infections Infections; Skin and Connective Tissue Diseases
C0019572 BXGD001338 Hirsutism Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
C0020179 BXGD001363 Huntington Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
C0020258 BXGD001371 Hydrocephalus, Normal Pressure Nervous System Diseases
C0020490 BXGD001403 Hyperopia Eye Diseases
C0020538 BXGD001422 Hypertensive disease Cardiovascular Diseases
C0020619 BXGD001447 Hypogonadism Endocrine System Diseases
C0022568 BXGD001552 Keratitis Eye Diseases
C0022821 BXGD001590 Kyphosis deformity of spine Musculoskeletal Diseases
C0023520 BXGD001678 Leukodystrophy Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C0024121 BXGD001735 Lung Neoplasms Neoplasms; Respiratory Tract Diseases
C0024623 BXGD001791 Malignant neoplasm of stomach Digestive System Diseases; Neoplasms
C0024636 BXGD001793 Malocclusion Stomatognathic Diseases
C0025202 BXGD001832 melanoma Neoplasms
C0025322 BXGD001863 Premature Menopause Female Urogenital Diseases and Pregnancy Complications
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
C0026640 BXGD001912 Mouth Neoplasms Neoplasms; Stomatognathic Diseases
C0026650 BXGD001913 Movement Disorders Nervous System Diseases
C0026826 BXGD001935 Muscle Hypertonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0026827 BXGD001936 Muscle hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0026838 BXGD001938 Muscle Spasticity Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0027651 BXGD002009 Neoplasms Neoplasms
C0027765 BXGD002033 nervous system disorder Nervous System Diseases
C0027819 BXGD002043 Neuroblastoma Neoplasms
C0028738 BXGD002081 Nystagmus Eye Diseases; Nervous System Diseases
C0028949 BXGD002100 Oligomenorrhea Pathological Conditions, Signs and Symptoms
C0028968 BXGD002103 Olivopontocerebellar Atrophies Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0029124 BXGD002113 Optic Atrophy Eye Diseases; Nervous System Diseases
C0029456 BXGD002157 Osteoporosis Nutritional and Metabolic Diseases; Musculoskeletal Diseases
C0029925 BXGD002181 Ovarian Carcinoma Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
C0033300 BXGD002403 Progeria Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C0033687 BXGD002415 Proteinuria Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0033922 BXGD002440 Psychomotor Disorders Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
C0035334 BXGD002539 Retinitis Pigmentosa Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0036572 BXGD002625 Seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0038002 BXGD002723 Splenomegaly Pathological Conditions, Signs and Symptoms
C0038379 BXGD002752 Strabismus Eye Diseases; Nervous System Diseases
C0039446 BXGD002811 Telangiectasis Cardiovascular Diseases
C0040822 BXGD002885 Tremor Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0043346 BXGD003043 Xeroderma Pigmentosum Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
C0085215 BXGD003141 Ovarian Failure, Premature Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
C0085583 BXGD003194 Choreoathetosis Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0085636 BXGD003218 Photophobia Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0086543 BXGD003294 Cataract Eye Diseases
C0151514 BXGD003429 Atrophic condition of skin Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
C0151786 BXGD003475 Muscle Weakness Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0151888 BXGD003497 Hyporeflexia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0151908 BXGD003502 Dry skin Skin and Connective Tissue Diseases
C0152025 BXGD003521 Polyneuropathy Nervous System Diseases
C0153381 BXGD003626 Malignant neoplasm of mouth Neoplasms; Stomatognathic Diseases
C0158113 BXGD003875 Contracture of joint of hand Musculoskeletal Diseases
C0162298 BXGD003933 Joint stiffness Musculoskeletal Diseases
C0162429 BXGD003942 Malnutrition Nutritional and Metabolic Diseases
C0175754 BXGD004015 Agenesis of corpus callosum Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
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
C0221369 BXGD004453 Acquired Camptodactyly
C0231341 BXGD004492 Premature aging syndrome Pathological Conditions, Signs and Symptoms
C0232940 BXGD004569 Secondary physiologic amenorrhea Pathological Conditions, Signs and Symptoms
C0234146 BXGD004626 Absent reflex Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0234985 BXGD004708 Mental deterioration Mental Disorders
C0235357 BXGD004742 Hypoplasia of teeth Digestive System Diseases; Stomatognathic Diseases
C0235857 BXGD004778 Decreased lacrimation Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases
C0235946 BXGD004789 Cerebral atrophy Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0235991 BXGD004802 Small for gestational age (disorder) Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications
C0239137 BXGD004965 Coxa valga Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
C0239761 BXGD004990 Gonadal hypoplasia
C0240912 BXGD005062 Vertical Talus Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0242379 BXGD005157 Malignant neoplasm of lung Neoplasms; Respiratory Tract Diseases
C0242383 BXGD005160 Age related macular degeneration Eye Diseases
C0265201 BXGD005460 De Sanctis-Cacchione syndrome Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0266470 BXGD005678 Cerebellar Hypoplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
C0266544 BXGD005691 Microcornea Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0266589 BXGD005698 Congenital ear anomaly NOS (disorder) Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Otorhinolaryngologic 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
C0270685 BXGD006084 Cerebral calcification Nutritional and Metabolic Diseases; Nervous System Diseases
C0271160 BXGD006166 Cortical cataract Eye Diseases
C0277960 BXGD006488 Dry hair
C0278996 BXGD006621 Malignant Head and Neck Neoplasm Neoplasms
C0302511 BXGD006849 Small for gestational age fetus Pathological Conditions, Signs and Symptoms
C0312420 BXGD006887 Hypersexuality state Mental Disorders; Behavior and Behavior Mechanisms
C0344539 BXGD007690 Hypoplasia of iris Eye Diseases
C0345392 BXGD007732 Congenital kyphoscoliosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0349506 BXGD007912 Photosensitivity of skin Skin and Connective Tissue Diseases
C0349588 BXGD007933 Short stature
C0376358 BXGD007992 Malignant neoplasm of prostate Neoplasms; Male Urogenital Diseases
C0376634 BXGD008006 Craniofacial Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0392557 BXGD008056 Nuclear cataract Eye Diseases
C0392777 BXGD008068 Poikiloderma Pathological Conditions, Signs and Symptoms
C0399526 BXGD008251 Class III malocclusion Stomatognathic Diseases
C0409338 BXGD008381 Flexion contracture - elbow
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
C0424230 BXGD008522 Motor retardation Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
C0425957 BXGD008555 Secondary amenorrhea Pathological Conditions, Signs and Symptoms
C0432072 BXGD008718 Dysmorphic features
C0496920 BXGD009049 Neoplasm of uncertain or unknown behavior of ovary Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
C0520680 BXGD009102 Sleep Apnea, Central Respiratory Tract Diseases; Nervous System Diseases
C0521525 BXGD009139 Short neck
C0522214 BXGD009196 Abnormal visual evoked potential Nervous System Diseases
C0522216 BXGD009197 Abnormal auditory evoked potential
C0524524 BXGD009228 Pseudoaphakia Eye Diseases
C0544886 BXGD009319 Somatic mutation
C0575158 BXGD009515 Kyphoscoliosis deformity of spine Musculoskeletal Diseases
C0578038 BXGD009542 Thin lips
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
C0678222 BXGD009749 Breast Carcinoma Neoplasms; Skin and Connective Tissue Diseases
C0684249 BXGD009790 Carcinoma of lung Neoplasms; Respiratory Tract Diseases
C0685409 BXGD009810 Congenital Camptodactyly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
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
C0700095 BXGD009875 Central neuroblastoma Neoplasms; Nervous System Diseases
C0740279 BXGD009973 Cerebellar atrophy
C0740392 BXGD009988 Infarction, Middle Cerebral Artery Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases
C0751037 BXGD010300 Cockayne Syndrome, Type III Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System 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
C0751456 BXGD010448 Developmental Psychomotor Disorders Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
C0857379 BXGD011148 Abnormality of the pinna
C0878787 BXGD011392 Growth failure
C0919267 BXGD011426 ovarian neoplasm Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
C1112705 BXGD011681 Nuclear non-senile cataract Eye 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
C1260926 BXGD011844 Abnormal pigmentation
C1277241 BXGD012110 Delayed myelination Mental Disorders
C1301937 BXGD012300 Talipes Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C1306459 BXGD012361 Primary malignant neoplasm Neoplasms
C1306460 BXGD012362 Primary malignant neoplasm of lung Neoplasms; Respiratory Tract Diseases
C1337013 BXGD012876 Differentiated Thyroid Gland Carcinoma
C1384666 BXGD012948 hearing impairment Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C1387005 BXGD012953 Penis agenesis Male Urogenital Diseases
C1389280 BXGD012967 Basal ganglia calcification
C1510497 BXGD013174 Lens Opacities Eye Diseases
C1565489 BXGD013401 Renal Insufficiency Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C1827524 BXGD013773 Wide spaced nipples
C1833561 BXGD013934 UV-Sensitive Syndrome Skin and Connective Tissue Diseases
C1837397 BXGD014227 Severe global developmental delay
C1837767 BXGD014269 Loss of facial adipose tissue
C1837770 BXGD014270 Sparse hair
C1843392 BXGD014582 Death in childhood
C1849367 BXGD015046 Nasal bridge wide
C1849538 BXGD015064 Delayed eruption of primary teeth
C1849953 BXGD015093 Square pelvis bone
C1851430 BXGD015213 Subcortical white matter calcifications Pathological Conditions, Signs and Symptoms
C1851431 BXGD015214 Cerebellar calcifications
C1853246 BXGD015323 Eversion of lower lip
C1854113 BXGD015382 Prominent nasal bridge
C1855514 BXGD015505 Severe failure to thrive
C1857108 BXGD015677 Limitation of joint mobility
C1857276 BXGD015688 Trichohepatoenteric Syndrome Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases
C1857638 BXGD015725 Patchy demyelination of subcortical white matter
C1857640 BXGD015726 Decreased nerve conduction velocity
C1857645 BXGD015729 Slender nose
C1857651 BXGD015730 Ivory epiphyses of the phalanges of the hand
C1857657 BXGD015732 Reduced subcutaneous adipose tissue
C1857679 BXGD015735 Sloping forehead
C1857707 BXGD015742 Increased cellular sensitivity to UV light
C1857710 BXGD015743 Progeroid facial 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
C1858452 BXGD015796 Thickened calvaria
C1859223 BXGD015864 Deep longitudinal plantar crease
C1859224 BXGD015865 Second metatarsal posteriorly placed
C1859778 BXGD015931 Postnatal growth retardation
C1862475 BXGD016132 Abnormality of retinal pigmentation
C1865014 BXGD016282 Long philtrum
C1865027 BXGD016287 Hypoplastic iliac wing
C1866934 BXGD016427 Reduced tendon reflexes Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1955934 BXGD016614 Trichothiodystrophy Syndromes Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
C1956147 BXGD016622 Microlissencephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C1963094 BXGD016681 Dry Skin, CTCAE
C1963184 BXGD016688 Nystagmus, CTCAE 3.0
C1968564 BXGD016714 Defective DNA repair after ultraviolet radiation damage
C2239176 BXGD016965 Liver carcinoma Digestive System Diseases; Neoplasms
C2242574 BXGD016979 Compulsive sexual behaviour
C2347761 BXGD017049 Childhood Myelodysplastic Syndrome Hemic and Lymphatic Diseases
C2674608 BXGD017250 Feeding difficulties in infancy
C2674950 BXGD017262 LUNG CANCER, SUSCEPTIBILITY TO
C2919142 BXGD017867 Short Stature, CTCAE
C3151063 BXGD018382 MACULAR DEGENERATION, AGE-RELATED, 5
C3161330 BXGD018511 Profound intellectual disabilities Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C3279222 BXGD018751 Aplasia/Hypoplasia of the cerebellum
C3463824 BXGD018899 MYELODYSPLASTIC SYNDROME Hemic and Lymphatic Diseases
C3536734 BXGD019071 Hypoplastic pelvis
C3551173 BXGD019145 UV-SENSITIVE SYNDROME 1
C3665347 BXGD019279 Visual Impairment Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous 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
C3853041 BXGD019819 Severe Congenital Microcephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C3887461 BXGD019876 Head and Neck Carcinoma Neoplasms
C3900098 BXGD020106 Adult Myelodysplastic Syndrome Hemic and Lymphatic Diseases
C4021550 BXGD020666 Elevated circulating follicle stimulating hormone level
C4021786 BXGD020779 Atypical scarring of skin Pathological Conditions, Signs and Symptoms
C4023616 BXGD021229 Abnormality of immune system physiology
C4024826 BXGD021431 Pigmentation anomalies of sun-exposed skin
C4025252 BXGD021607 Abnormal nasal morphology
C4025610 BXGD021692 Peripheral dysmyelination
C4025648 BXGD021709 Abnormal peripheral myelination
C4086165 BXGD022126 Childhood Neuroblastoma Neoplasms
C4310783 BXGD022664 PREMATURE OVARIAN FAILURE 11
C4551583 BXGD023361 Cerebral cortical atrophy
C4553743 BXGD023548 Spasticity, CTCAE
C4554036 BXGD023557 Nystagmus, CTCAE 5.0
C4721453 BXGD023744 Peripheral Nervous System Diseases Nervous System Diseases
C4721806 BXGD023772 Carcinoma, Basal Cell Neoplasms
C4722085 BXGD023788 Malignant neoplasm of colon and/or rectum
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0002588 Magnesium 24.31
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