GlyCosmos Portal

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UniProt ID	Protein Name	Gene Symbol	No. of Glycosylation Sites	No. of GlyTouCan IDs	Disease Ontology ▲
P11168	Solute carrier family 2, facilitated glucose transporter member 2	SLC2A2 GLUT2	2	1	B-cell lymphoma Fanconi syndrome Laron syndrome X-linked dominant hypophosphatemic rickets abdominal obesity-metabolic syndrome 1 achondroplasia atopic dermatitis breast cancer breast carcinoma cancer carcinoma cardiovascular system disease chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer cystinosis cystinuria dental caries dentin caries dermatitis diabetes mellitus diabetic ketoacidosis disease of metabolism embryoma essential hypertension familial adenomatous polyposis galactokinase deficiency galactosemia gestational diabetes glomerulonephritis glucose intolerance glucose metabolism disease glucosephosphate dehydrogenase deficiency glycogen storage disease IXa glycogen storage disease IXb glycogen storage disease IXc glycogen storage disease IXd glycogen storage disease Ia glycogen storage disease heart disease hepatitis C hepatocellular carcinoma hyperglycemia hypertension hypoglycemia hypokalemia hypophosphatemia insulinoma intestinal atresia islet cell tumor kidney disease kidney failure lactic acidosis large intestine cancer liver cancer lung squamous cell carcinoma maturity-onset diabetes of the young melanoma myelomeningocele neonatal diabetes nephritis nephrosis obesity obsolete type 1 diabetes mellitus 9 obsolete ymphosarcoma osteomalacia oxyphilic adenoma papillary renal cell carcinoma permanent neonatal diabetes mellitus placental insufficiency prediabetes syndrome pyoureter renal carcinoma renal cell carcinoma renal glycosuria renal oncocytoma rickets sarcomatoid carcinoma sarcomatoid renal cell carcinoma skin melanoma spondyloepimetaphyseal dysplasia, Sponastrime type squamous cell carcinoma steatotic liver disease tethered spinal cord syndrome tongue squamous cell carcinoma transient neonatal diabetes mellitus tropical sprue type 1 diabetes mellitus 10 type 1 diabetes mellitus 11 type 1 diabetes mellitus 12 type 1 diabetes mellitus 13 type 1 diabetes mellitus 15 type 1 diabetes mellitus 17 type 1 diabetes mellitus 18 type 1 diabetes mellitus 19 type 1 diabetes mellitus 20 type 1 diabetes mellitus 21 type 1 diabetes mellitus 22 type 1 diabetes mellitus 23 type 1 diabetes mellitus 24 type 1 diabetes mellitus 2 type 1 diabetes mellitus 3 type 1 diabetes mellitus 4 type 1 diabetes mellitus 5 type 1 diabetes mellitus 6 type 1 diabetes mellitus 7 type 1 diabetes mellitus 8 type 1 diabetes mellitus type 2 diabetes mellitus viral infectious disease
Q06136	3-ketodihydrosphingosine reductase	KDSR FVT1 SDR35C1	1	1	B-cell lymphoma Hodgkin's granuloma Hodgkin's lymphoma, lymphocytic depletion Hodgkin's lymphoma, lymphocytic-histiocytic predominance Hodgkin's lymphoma, mixed cellularity Hodgkin's lymphoma Laron syndrome achondroplasia actinic keratosis alopecia blood platelet disease cancer cataract chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma diabetes mellitus diabetic ketoacidosis diffuse large B-cell lymphoma erythrokeratodermia variabilis et progressiva 1 erythrokeratodermia variabilis et progressiva 4 erythrokeratodermia variabilis exanthem follicular lymphoma glaucoma granuloma annulare intellectual disability learning disability microcephaly nonepidermolytic palmoplantar keratoderma nonpapillary renal cell carcinoma obsolete ymphosarcoma palmoplantar keratosis papillary renal cell carcinoma photosensitive epilepsy photosensitivity disease progressive muscular atrophy recurrent corneal erosion renal carcinoma renal cell carcinoma sarcomatoid renal cell carcinoma seborrheic keratosis sensorineural hearing loss skin benign neoplasm skin cancer skin disease spinal muscular atrophy steatotic liver disease thrombocytopenia
O95868	Lymphocyte antigen 6 complex locus protein G6d	LY6G6D C6orf23 G6D MEGT1 NG25	2	0	B-cell lymphoma Hodgkin's granuloma Hodgkin's lymphoma, lymphocytic depletion Hodgkin's lymphoma, lymphocytic-histiocytic predominance Hodgkin's lymphoma, mixed cellularity Hodgkin's lymphoma chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma colorectal cancer colorectal carcinoma diabetic ketoacidosis large intestine cancer nonpapillary renal cell carcinoma obsolete type 1 diabetes mellitus 9 obsolete ymphosarcoma papillary renal cell carcinoma renal carcinoma renal cell carcinoma rheumatoid arthritis sarcomatoid renal cell carcinoma type 1 diabetes mellitus 10 type 1 diabetes mellitus 11 type 1 diabetes mellitus 12 type 1 diabetes mellitus 13 type 1 diabetes mellitus 15 type 1 diabetes mellitus 17 type 1 diabetes mellitus 18 type 1 diabetes mellitus 19 type 1 diabetes mellitus 20 type 1 diabetes mellitus 21 type 1 diabetes mellitus 22 type 1 diabetes mellitus 23 type 1 diabetes mellitus 24 type 1 diabetes mellitus 2 type 1 diabetes mellitus 3 type 1 diabetes mellitus 4 type 1 diabetes mellitus 5 type 1 diabetes mellitus 6 type 1 diabetes mellitus 7 type 1 diabetes mellitus 8 type 1 diabetes mellitus
Q8TB61	Adenosine 3'-phospho 5'-phosphosulfate transporter 1	SLC35B2 PAPST1	0	1	B-cell lymphoma Hodgkin's granuloma Hodgkin's lymphoma, mixed cellularity Langerhans cell sarcoma Langerhans-cell histiocytosis Richter's syndrome adult lymphoma autoimmune lymphoproliferative syndrome type 2A autoimmune lymphoproliferative syndrome type 2B autoimmune lymphoproliferative syndrome type 3 autoimmune lymphoproliferative syndrome breast cancer breast carcinoma cancer central nervous system lymphoma childhood lymphoma chronic lymphocytic leukemia/small lymphocytic lymphoma chronic lymphocytic leukemia dendritic cell sarcoma dilated cardiomyopathy 1A dilated cardiomyopathy follicular dendritic cell sarcoma follicular lymphoma hereditary multiple exostoses interdigitating dendritic cell sarcoma invasive ductal carcinoma lymphoma lymphoplasmacytic lymphoma lymphoproliferative syndrome 1 lymphoproliferative syndrome 2 macroglobulinemia mantle cell lymphoma non-Hodgkin lymphoma obesity obsolete lymphoplasmacytic lymphoma obsolete ymphosarcoma reticulosarcoma systemic Epstein-Barr virus positive T-cell lymphoma of childhood
Q7Z7D3	V-set domain-containing T-cell activation inhibitor 1	VTCN1 B7H4	2	7	B-cell lymphoma IgA glomerulonephritis Langerhans-cell histiocytosis Sjogren's syndrome adenocarcinoma adenoma adult lymphoma arthritis arthropathy atrophic gastritis autoimmune disease autoimmune lymphoproliferative syndrome benign breast phyllodes tumor bile duct adenocarcinoma bile duct carcinoma bladder carcinoma bone osteosarcoma breast cancer breast carcinoma breast ductal carcinoma breast malignant phyllodes tumor bronchus cancer bronchus carcinoma cancer carcinoma celiac disease central nervous system lymphoma cervical adenocarcinoma cervical cancer cervix carcinoma cervix uteri carcinoma in situ childhood leukemia childhood lymphoma childhood osteosarcoma cholangiocarcinoma chromophobe renal cell carcinoma ciliary body disease clear cell renal cell carcinoma colitis collecting duct carcinoma colorectal cancer colorectal carcinoma common wart complement deficiency cribriform carcinoma cutaneous Paget's disease depressive disorder diabetes mellitus diabetic ketoacidosis diffuse large B-cell lymphoma dilated cardiomyopathy 1A dilated cardiomyopathy embryoma endometrial cancer endometrial carcinoma esophageal cancer esophageal carcinoma esophagus squamous cell carcinoma gastric adenocarcinoma gastritis gastroenteritis giant cell glioblastoma glioblastoma glomerulonephritis granular cell carcinoma hepatitis B hepatocellular carcinoma high grade glioma ileitis ileocolitis immune system disease intrahepatic cholangiocarcinoma invasive ductal carcinoma iris disease juvenile rheumatoid arthritis keratoconjunctivitis sicca kidney disease large intestine cancer laryngeal carcinoma larynx cancer leukemia liver cancer lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lung small cell carcinoma lupus erythematosus lupus nephritis lymphoma melanoma membranous glomerulonephritis microphthalmia myeloproliferative disorder with eosinophilia nephritis nephrosis neurogenic arthropathy non-Hodgkin lymphoma nonpapillary renal cell carcinoma obsolete Matthew-Wood syndrome obsolete melancholia obsolete type 1 diabetes mellitus 9 obsolete ymphosarcoma osteosarcoma ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma pancreatic ductal carcinoma panuveitis papillary carcinoma papillary renal cell carcinoma placental insufficiency pleural tuberculosis primary biliary cholangitis primary immunodeficiency disease pyoureter renal carcinoma renal cell carcinoma reticulosarcoma rheumatoid arthritis sarcoidosis sarcomatoid carcinoma sarcomatoid renal cell carcinoma skin melanoma sporadic breast cancer squamous cell carcinoma stomach cancer stomach carcinoma synovial sarcoma systemic lupus erythematosus thyroid adenoma thyroid cancer thyroid gland carcinoma tongue squamous cell carcinoma tuberculosis tubular adenocarcinoma type 1 diabetes mellitus 10 type 1 diabetes mellitus 11 type 1 diabetes mellitus 12 type 1 diabetes mellitus 13 type 1 diabetes mellitus 15 type 1 diabetes mellitus 17 type 1 diabetes mellitus 18 type 1 diabetes mellitus 19 type 1 diabetes mellitus 20 type 1 diabetes mellitus 21 type 1 diabetes mellitus 22 type 1 diabetes mellitus 23 type 1 diabetes mellitus 24 type 1 diabetes mellitus 2 type 1 diabetes mellitus 3 type 1 diabetes mellitus 4 type 1 diabetes mellitus 5 type 1 diabetes mellitus 6 type 1 diabetes mellitus 7 type 1 diabetes mellitus 8 type 1 diabetes mellitus type 2 diabetes mellitus urinary bladder cancer uterine corpus cancer uveitis uveoparotid fever
Q04828	Aldo-keto reductase family 1 member C1	AKR1C1 DDH DDH1	0	1	B-cell lymphoma Langerhans-cell histiocytosis Marfan syndrome T-cell acute lymphoblastic leukemia X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 amelogenesis imperfecta hypomaturation type 2A2 amelogenesis imperfecta hypomaturation type 2A3 amelogenesis imperfecta hypomaturation type 2A4 amelogenesis imperfecta hypomaturation type 2A5 amelogenesis imperfecta type 1A amelogenesis imperfecta type 1B amelogenesis imperfecta type 1C amelogenesis imperfecta type 1E amelogenesis imperfecta type 1F amelogenesis imperfecta type 1G amelogenesis imperfecta type 1H amelogenesis imperfecta type 2A1 amelogenesis imperfecta type 3A amelogenesis imperfecta type 4 amelogenesis imperfecta anxiety disorder arthritis arthropathy benign mesothelioma bladder carcinoma bone osteosarcoma breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer cervical cancer childhood germ cell cancer childhood osteosarcoma clear cell adenocarcinoma clubfoot colon cancer colonic benign neoplasm colorectal cancer colorectal carcinoma common wart dentin dysplasia dentinogenesis imperfecta disorder of sexual development embryoma embryonal cancer endometrial cancer endometrial carcinoma endometrial hyperplasia endometriosis of ovary endometriosis of uterus endometriosis esophagus squamous cell carcinoma gallbladder disease generalized anxiety disorder germ cell and embryonal cancer germ cell cancer germinoma head and neck squamous cell carcinoma hepatocellular carcinoma hermaphroditism large intestine cancer liver cancer liver carcinoma liver disease lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lung small cell carcinoma lymphoma malignant mesothelioma non-Hodgkin lymphoma obsolete ymphosarcoma osteoarthritis osteosarcoma ovarian cancer ovarian carcinoma panic disorder parapsoriasis phobic disorder polycystic ovary syndrome prostate cancer prostate carcinoma pseudohermaphroditism psoriasis pustulosis of palm and sole reticulosarcoma situs inversus squamous cell carcinoma tongue squamous cell carcinoma tuberous sclerosis urinary bladder cancer uterine corpus cancer
P42330	Aldo-keto reductase family 1 member C3	AKR1C3 DDH1 HSD17B5 KIAA0119 PGFS	0	1	B-cell lymphoma Langerhans-cell histiocytosis T-cell acute lymphoblastic leukemia Zollinger-Ellison syndrome abdominal obesity-metabolic syndrome 1 acrodermatitis acute lymphoblastic leukemia acute myeloid leukemia adenocarcinoma adenoma adenosarcoma adrenal adenoma adrenal carcinoma adrenal cortex cancer adrenocortical carcinoma adult acute lymphocytic leukemia alcohol dependence alcohol use disorder anaplastic astrocytoma androgen insensitivity syndrome anxiety disorder aortic valve insufficiency atopic dermatitis benign mesothelioma bladder carcinoma breast cancer breast carcinoma breast ductal carcinoma bronchus cancer bronchus carcinoma cancer carcinoma cervical adenocarcinoma cervical cancer cervix carcinoma childhood acute lymphocytic leukemia childhood cerebral astrocytoma childhood germ cell cancer childhood leukemia choriocarcinoma chromophobe renal cell carcinoma chronic myeloid leukemia cicatricial pemphigoid clear cell renal cell carcinoma collecting duct carcinoma colon cancer colonic benign neoplasm colorectal cancer cribriform carcinoma dermatitis dermoid cyst of ovary dermoid cyst disease of metabolism disorder of sexual development embryoma embryonal cancer endometrial adenocarcinoma endometrial cancer endometrial carcinoma endometrial hyperplasia endometriosis of ovary endometriosis of uterus endometriosis epilepsy esophageal cancer esophageal carcinoma essential hypertension fibrillary astrocytoma gemistocytic astrocytoma generalized anxiety disorder germ cell and embryonal cancer germ cell cancer germinoma glaucoma granular cell carcinoma hepatocellular carcinoma hermaphroditism high grade glioma hyperandrogenism hyperinsulinism hypertension juvenile pilocytic astrocytoma kidney cancer large intestine cancer leukemia liver cancer liver carcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lymphoma malignant astrocytoma malignant mesothelioma nephroblastoma non-Hodgkin lymphoma nonpapillary renal cell carcinoma obesity obsolete ymphosarcoma ovarian cancer ovarian carcinoma panic disorder papillary renal cell carcinoma papillary transitional carcinoma parapsoriasis parathyroid adenoma parathyroid carcinoma phobic disorder pilocytic astrocytoma placenta cancer polycystic ovary syndrome pre-eclampsia prostate adenocarcinoma prostate cancer prostate carcinoma protoplasmic astrocytoma pseudohermaphroditism psoriasis pustulosis of palm and sole renal carcinoma renal cell carcinoma reticulosarcoma sarcomatoid carcinoma sarcomatoid renal cell carcinoma skin squamous cell carcinoma squamous cell carcinoma stomach cancer stomach carcinoma subependymal giant cell astrocytoma tongue squamous cell carcinoma tubular adenocarcinoma urinary bladder cancer uterine corpus cancer
Q9NX78	Protein O-mannosyl-transferase TMEM260	TMEM260 C14orf101	3	2	B-cell lymphoma Langerhans-cell histiocytosis acute myeloid leukemia alcohol dependence alcohol use disorder cancer double outlet right ventricle embryoma kidney failure lymphoma non-Hodgkin lymphoma obsolete ymphosarcoma reticulosarcoma ventricular septal defect
O00330	Pyruvate dehydrogenase protein X component, mitochondrial	PDHX PDX1	1	1	B-cell lymphoma Leigh disease MHC class II deficiency Zollinger-Ellison syndrome adenocarcinoma adenoma adenosine deaminase deficiency brain disease breast cancer breast carcinoma cancer colorectal cancer colorectal carcinoma craniosynostosis cribriform carcinoma diabetes mellitus diabetic ketoacidosis disease of metabolism dystonia embryoma endocrine pancreas disease epilepsy familial hyperinsulinemic hypoglycemia 1 familial hyperinsulinemic hypoglycemia 2 granular cell carcinoma hyperglycemia hyperinsulinemic hypoglycemia hyperinsulinism in situ carcinoma insulinoma intellectual disability kidney cancer lactic acidosis large intestine cancer learning disability locked-in syndrome maturity-onset diabetes of the young type 4 maturity-onset diabetes of the young microcephaly microphthalmia neonatal diabetes obsolete Matthew-Wood syndrome obsolete type 1 diabetes mellitus 9 obsolete ymphosarcoma optic atrophy ovarian carcinoma ovarian mucinous neoplasm ovarian papillary neoplasm pancreatic adenocarcinoma pancreatic cancer pancreatic carcinoma pancreatic ductal adenocarcinoma pancreatic ductal carcinoma paraplegia patent ductus arteriosus placental insufficiency polycystic kidney disease 1 primary biliary cholangitis pyruvate carboxylase deficiency disease pyruvate decarboxylase deficiency quadriplegia severe combined immunodeficiency systemic lupus erythematosus transient neonatal diabetes mellitus tubular adenocarcinoma type 1 diabetes mellitus 10 type 1 diabetes mellitus 11 type 1 diabetes mellitus 12 type 1 diabetes mellitus 13 type 1 diabetes mellitus 15 type 1 diabetes mellitus 17 type 1 diabetes mellitus 18 type 1 diabetes mellitus 19 type 1 diabetes mellitus 20 type 1 diabetes mellitus 21 type 1 diabetes mellitus 22 type 1 diabetes mellitus 23 type 1 diabetes mellitus 24 type 1 diabetes mellitus 2 type 1 diabetes mellitus 3 type 1 diabetes mellitus 4 type 1 diabetes mellitus 5 type 1 diabetes mellitus 6 type 1 diabetes mellitus 7 type 1 diabetes mellitus 8 type 1 diabetes mellitus type 2 diabetes mellitus visual epilepsy
P09467	Fructose-1,6-bisphosphatase 1	FBP1 FBP	1	1	B-cell lymphoma Marfan syndrome Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Rett syndrome acute myocardial infarction bile duct adenocarcinoma bile duct carcinoma bone osteosarcoma breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma central nervous system cancer cervical adenocarcinoma cervical cancer cervix carcinoma childhood osteosarcoma cholangiocarcinoma chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma coronary thrombosis cryptococcosis cystinuria diabetes mellitus diabetic ketoacidosis diarrhea diffuse large B-cell lymphoma distal arthrogryposis embryoma epilepsy follicular lymphoma fructose-1,6-bisphosphatase deficiency galactosemia giant cell glioblastoma glioblastoma gliosarcoma glucosephosphate dehydrogenase deficiency glycogen storage disease IXa glycogen storage disease IXb glycogen storage disease IXc glycogen storage disease IXd glycogen storage disease Ia glycogen storage disease hemolytic anemia hepatitis C hepatitis hepatocellular carcinoma high grade glioma hydrocephalus hyperuricemia hypoglycemia intellectual disability intrahepatic cholangiocarcinoma lactic acidosis large intestine cancer learning disability liver cancer liver carcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma maturity-onset diabetes of the young microphthalmia mixed glioma myocardial infarction neonatal jaundice nonpapillary renal cell carcinoma obsolete Matthew-Wood syndrome obsolete ymphosarcoma osteosarcoma ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma pancreatic ductal adenocarcinoma papillary renal cell carcinoma prostate cancer prostate carcinoma renal carcinoma renal cell carcinoma sarcomatoid carcinoma sarcomatoid renal cell carcinoma schizophrenia silent myocardial infarction situs inversus squamous cell carcinoma steatotic liver disease stomach cancer stomach carcinoma tongue squamous cell carcinoma tuberous sclerosis type 2 diabetes mellitus viral infectious disease visual epilepsy
Q6UWN5	Ly6/PLAUR domain-containing protein 5	LYPD5	2	0	B-cell lymphoma Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease adenocarcinoma adenoma basal cell carcinoma bone osteosarcoma breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma cervical adenocarcinoma cervical cancer cervix carcinoma childhood osteosarcoma chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma common wart cribriform carcinoma diabetic ketoacidosis diffuse large B-cell lymphoma embryoma endometrial cancer endometrial carcinoma enterobiasis esophagus squamous cell carcinoma granular cell carcinoma hepatitis B hepatocellular carcinoma intestinal schistosomiasis large intestine cancer liver cancer lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma melanoma middle cerebral artery infarction nasopharynx carcinoma neuroblastoma nonpapillary renal cell carcinoma obsolete type 1 diabetes mellitus 9 obsolete ymphosarcoma osteosarcoma pancreatic cancer pancreatic carcinoma papillary renal cell carcinoma prostate cancer prostate carcinoma renal carcinoma renal cell carcinoma sarcomatoid carcinoma sarcomatoid renal cell carcinoma schistosomiasis sebaceous carcinoma skin melanoma squamous cell carcinoma squamous cell neoplasm stomach cancer stomach carcinoma sweat gland cancer tongue squamous cell carcinoma trichinosis tubular adenocarcinoma type 1 diabetes mellitus 10 type 1 diabetes mellitus 11 type 1 diabetes mellitus 12 type 1 diabetes mellitus 13 type 1 diabetes mellitus 15 type 1 diabetes mellitus 17 type 1 diabetes mellitus 18 type 1 diabetes mellitus 19 type 1 diabetes mellitus 20 type 1 diabetes mellitus 21 type 1 diabetes mellitus 22 type 1 diabetes mellitus 23 type 1 diabetes mellitus 24 type 1 diabetes mellitus 2 type 1 diabetes mellitus 3 type 1 diabetes mellitus 4 type 1 diabetes mellitus 5 type 1 diabetes mellitus 6 type 1 diabetes mellitus 7 type 1 diabetes mellitus 8 type 1 diabetes mellitus uterine corpus cancer varicocele
Q06828	Fibromodulin	FMOD FM SLRR2E	7	106	B-cell lymphoma Richter's syndrome adult cystic teratoma adult lymphoma adult teratoma age related macular degeneration arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy atherosclerosis breast cancer breast carcinoma cancer central nervous system cancer central nervous system lymphoma childhood leukemia childhood lymphoma chronic lymphocytic leukemia colon carcinoma colorectal cancer congestive heart failure coronary artery disease cystic teratoma degeneration of macula and posterior pole embryoma enthesopathy exostosis female stress incontinence fibromyalgia giant cell glioblastoma glioblastoma gliosarcoma glomerulonephritis high grade glioma kidney disease leiomyoma leukemia liver cirrhosis lung small cell carcinoma lymphoma macular degeneration malignant teratoma mantle cell lymphoma mature teratoma mixed glioma myofibroma myopia neovascular inflammatory vitreoretinopathy nephritis nephrosis obsolete ymphosarcoma osteoarthritis periarthritis prostate cancer prostate carcinoma prostate disease pyoureter tendinitis teratoma uterine fibroid
O75832	26S proteasome non-ATPase regulatory subunit 10	PSMD10	0	1	B-cell lymphoma T-cell acute lymphoblastic leukemia West Nile fever acute myocardial infarction adenocarcinoma adenoma adult T-cell leukemia/lymphoma adult cystic teratoma adult teratoma autoimmune disease autoimmune lymphoproliferative syndrome bacterial sepsis bile duct adenocarcinoma bile duct carcinoma bone osteosarcoma brain cancer breast cancer breast carcinoma cancer carcinoma central nervous system cancer childhood osteosarcoma childhood testicular germ cell tumor cholangiocarcinoma cholesteatoma of middle ear cholesteatoma chromophobe renal cell carcinoma chronic fatigue syndrome clear cell renal cell carcinoma colitis collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma coronary thrombosis cystic teratoma dedifferentiated liposarcoma diabetes mellitus diabetic ketoacidosis distal arthrogryposis ehrlichiosis embryoma embryonal cancer embryonal carcinoma encephalitis encephalomyelitis endometrial cancer endometrial carcinoma endometriosis of ovary endometriosis of uterus endometriosis epilepsy esophageal cancer esophageal carcinoma exudative vitreoretinopathy 1 exudative vitreoretinopathy familial adenomatous polyposis 1 familial adenomatous polyposis familial retinoblastoma follicular adenoma gastroenteritis germ cell and embryonal cancer germ cell cancer germinoma gliosarcoma head and neck squamous cell carcinoma hepatitis B hepatitis C hepatitis hepatoblastoma hepatocellular carcinoma high grade glioma ileitis ileocolitis immune system disease inflammatory bowel disease influenza intrahepatic cholangiocarcinoma invasive ductal carcinoma islet cell tumor large intestine cancer liposarcoma liver cancer liver carcinoma liver cirrhosis lung cancer lung non-small cell carcinoma malignant teratoma mature teratoma melanoma microcystic adenoma mixed glioma multiple myeloma multiple sclerosis myelitis myocardial infarction myopia nonpapillary renal cell carcinoma normal pressure hydrocephalus obsolete ymphosarcoma osteosarcoma pancreatic cancer pancreatic carcinoma papillary adenoma papillary renal cell carcinoma pleomorphic liposarcoma polyp of middle ear prostate cancer prostate carcinoma renal carcinoma renal cell carcinoma retinoblastoma retinopathy of prematurity sarcomatoid renal cell carcinoma schizophrenia seminoma silent myocardial infarction skin melanoma squamous cell carcinoma steatotic liver disease stomach cancer stomach carcinoma teratoma testicular cancer testicular germ cell cancer testicular malignant germ cell cancer testis seminoma thymic carcinoma thymoma tongue squamous cell carcinoma trilateral retinoblastoma type 2 diabetes mellitus uterine corpus cancer viral infectious disease visual epilepsy
Q12891	Hyaluronidase-2	HYAL2 LUCA2	6	8	B-cell lymphoma acute chest syndrome adenocarcinoma adenoma adult lymphoma arthritis arthropathy breast cancer breast carcinoma bronchiolo-alveolar adenocarcinoma bronchus cancer bronchus carcinoma cancer carcinoma central nervous system cancer central nervous system lymphoma childhood lymphoma colitis colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma congenital heart disease cribriform carcinoma dysplastic nevus syndrome embryoma endometrial cancer endometrial carcinoma endometriosis of uterus endometriosis gastroenteritis gliosarcoma granular cell carcinoma high grade glioma ileitis ileocolitis inflammatory bowel disease large intestine cancer lung benign neoplasm lung cancer lung carcinoma lung small cell carcinoma lymphoma melanoma microphthalmia mixed glioma mucopolysaccharidosis II mucopolysaccharidosis III mucopolysaccharidosis IV mucopolysaccharidosis IX mucopolysaccharidosis VI mucopolysaccharidosis obsolete Matthew-Wood syndrome obsolete ymphosarcoma osteoarthritis primary pulmonary hypertension pulmonary hypertension reticulosarcoma rheumatoid arthritis sarcomatoid carcinoma skin melanoma squamous cell carcinoma tongue squamous cell carcinoma tubular adenocarcinoma uterine corpus cancer
Q4G176	Malonate--CoA ligase ACSF3, mitochondrial	ACSF3	1	1	B-cell lymphoma adult lymphoma amnestic disorder brain disease central nervous system lymphoma childhood lymphoma combined malonic and methylmalonic acidemia diarrhea disease of metabolism dystonia hypoglycemia inherited metabolic disorder lymphoma methylmalonic acidemia microcephaly migraine obsolete ymphosarcoma retrograde amnesia
Q92903	Phosphatidate cytidylyltransferase 1	CDS1 CDS	1	1	B-cell lymphoma appendicitis arachnoiditis bipolar disorder breast cancer cancer carcinoma carotid stenosis chondrosarcoma colorectal cancer colorectal carcinoma congestive heart failure depressive disorder diffuse large B-cell lymphoma embryoma exanthema subitum eye disease giant cell glioblastoma glioblastoma high grade glioma large intestine cancer meningitis milker's nodule myasthenia gravis obsolete ymphosarcoma panic disorder sarcomatoid carcinoma substance abuse substance-related disorder temporal arteritis variola major
Q96LC7	Sialic acid-binding Ig-like lectin 10	SIGLEC10 SLG2	6	4	B-cell lymphoma cancer childhood leukemia leukemia obsolete ymphosarcoma
P20815	Cytochrome P450 3A5	CYP3A5	1	1	Balkan nephropathy Cockayne syndrome Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease T-cell acute lymphoblastic leukemia abdominal obesity-metabolic syndrome 1 acute biphenotypic leukemia acute chest syndrome acute intermittent porphyria acute leukemia acute lymphoblastic leukemia adenocarcinoma adenoma adult acute lymphocytic leukemia adult medulloblastoma adult respiratory distress syndrome agnosia agranulocytosis alcohol dependence alcohol use disorder allergic asthma ankylosing spondylitis arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease asthma atherosclerosis atrial fibrillation atypical chronic myeloid leukemia, BCR-ABL1 negative autoimmune disease autoimmune lymphoproliferative syndrome bladder carcinoma bone disease brain stem infarction breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma cardiovascular system disease cartilage disease central nervous system origin vertigo central sleep apnea cerebral artery occlusion cerebral infarction cerebrovascular disease childhood acute lymphocytic leukemia childhood leukemia childhood medulloblastoma cholestasis chromophobe renal cell carcinoma chronic kidney disease chronic monocytic leukemia chronic myeloid leukemia chronic obstructive pulmonary disease clear cell renal cell carcinoma clonorchiasis collagen disease collecting duct carcinoma colorectal cancer colorectal carcinoma congestive heart failure connective tissue disease coronary artery disease diabetes mellitus diabetic ketoacidosis disease of mental health embryoma epilepsy esophageal cancer esophageal carcinoma esophagus squamous cell carcinoma essential hypertension essential thrombocythemia familial nephrotic syndrome familial periodic paralysis follicular adenoma gastrointestinal system cancer glomerulonephritis heart disease hepatitis C hepatocellular carcinoma hypertension immune system disease inflammatory bowel disease 1 inflammatory bowel disease intrinsic asthma kidney disease kidney failure large intestine cancer laryngeal squamous cell carcinoma leukemia leukopenia lingual-facial-buccal dyskinesia lipoid nephrosis liver cancer lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lung small cell carcinoma lupus nephritis lymphoblastic lymphoma lymphoid leukemia medulloblastoma medullomyoblastoma melanotic medulloblastoma membranous glomerulonephritis microcystic adenoma microphthalmia myasthenia gravis myelodysplastic syndrome myeloid leukemia myopathy nephritis nephrolithiasis nephrosclerosis nephrosis nephrotic syndrome neuroblastoma neuropathy neutropenia newborn respiratory distress syndrome nicotine dependence nodular prostate nonpapillary renal cell carcinoma nutmeg liver obsolete Matthew-Wood syndrome oral submucous fibrosis ovarian cancer ovarian carcinoma pancreatic ductal adenocarcinoma papillary adenoma papillary renal cell carcinoma peripheral nervous system disease polyneuropathy pre-eclampsia prostate cancer prostate carcinoma prostatic adenoma psychotic disorder pyoureter renal carcinoma renal cell carcinoma renal hypertension rheumatoid arthritis sarcomatoid carcinoma sarcomatoid renal cell carcinoma schizophrenia seminoma severe congenital neutropenia squamous cell carcinoma subacute delirium systemic lupus erythematosus testicular cancer testicular malignant germ cell cancer testis seminoma thrombophilia thrombosis tongue squamous cell carcinoma toxic encephalopathy tuberculosis type 2 diabetes mellitus ulcerative colitis uric acid nephrolithiasis urinary bladder cancer
Q9Y259	Choline/ethanolamine kinase	CHKB CHETK CHKL	1	1	Balo concentric sclerosis Bell's palsy Duchenne muscular dystrophy X-linked dilated cardiomyopathy adrenoleukodystrophy agnosia autosomal dominant Emery-Dreifuss muscular dystrophy 2 autosomal dominant limb-girdle muscular dystrophy type 1 autosomal dominant limb-girdle muscular dystrophy type 1H autosomal dominant limb-girdle muscular dystrophy type 2 autosomal dominant limb-girdle muscular dystrophy type 3 autosomal dominant limb-girdle muscular dystrophy autosomal recessive limb-girdle muscular dystrophy type 2A autosomal recessive limb-girdle muscular dystrophy type 2B autosomal recessive limb-girdle muscular dystrophy type 2C autosomal recessive limb-girdle muscular dystrophy type 2D autosomal recessive limb-girdle muscular dystrophy type 2E autosomal recessive limb-girdle muscular dystrophy type 2F autosomal recessive limb-girdle muscular dystrophy type 2G autosomal recessive limb-girdle muscular dystrophy type 2H autosomal recessive limb-girdle muscular dystrophy type 2I autosomal recessive limb-girdle muscular dystrophy type 2J autosomal recessive limb-girdle muscular dystrophy type 2K autosomal recessive limb-girdle muscular dystrophy type 2L autosomal recessive limb-girdle muscular dystrophy type 2M autosomal recessive limb-girdle muscular dystrophy type 2N autosomal recessive limb-girdle muscular dystrophy type 2O autosomal recessive limb-girdle muscular dystrophy type 2P autosomal recessive limb-girdle muscular dystrophy type 2Q autosomal recessive limb-girdle muscular dystrophy type 2S autosomal recessive limb-girdle muscular dystrophy type 2T autosomal recessive limb-girdle muscular dystrophy type 2U autosomal recessive limb-girdle muscular dystrophy type 2Y autosomal recessive limb-girdle muscular dystrophy bronchus cancer bronchus carcinoma campomelic dysplasia central nervous system disease centronuclear myopathy congenital merosin-deficient muscular dystrophy 1A congenital muscular dystrophy 1B congenital muscular dystrophy due to LMNA mutation congenital muscular dystrophy due to integrin alpha-7 deficiency congenital muscular dystrophy congenital myopathy 1A congenital myopathy 4A congenital structural myopathy craniometaphyseal dysplasia cytochrome-c oxidase deficiency disease developmental coordination disorder dilated cardiomyopathy 1AA dilated cardiomyopathy 1B dilated cardiomyopathy 1BB dilated cardiomyopathy 1C dilated cardiomyopathy 1CC dilated cardiomyopathy 1D dilated cardiomyopathy 1DD dilated cardiomyopathy 1E dilated cardiomyopathy 1EE dilated cardiomyopathy 1FF dilated cardiomyopathy 1G dilated cardiomyopathy 1GG dilated cardiomyopathy 1H dilated cardiomyopathy 1HH dilated cardiomyopathy 1I dilated cardiomyopathy 1II dilated cardiomyopathy 1JJ dilated cardiomyopathy 1K dilated cardiomyopathy 1KK dilated cardiomyopathy 1L dilated cardiomyopathy 1M dilated cardiomyopathy 1NN dilated cardiomyopathy 1O dilated cardiomyopathy 1P dilated cardiomyopathy 1Q dilated cardiomyopathy 1R dilated cardiomyopathy 1S dilated cardiomyopathy 1T dilated cardiomyopathy 1U dilated cardiomyopathy 1V dilated cardiomyopathy 1W dilated cardiomyopathy 1X dilated cardiomyopathy 1Y dilated cardiomyopathy 1Z dilated cardiomyopathy 2A dilated cardiomyopathy 2B dilated cardiomyopathy distal myopathy facial nerve disease facial paralysis facioscapulohumeral muscular dystrophy inherited metabolic disorder isolated elevated serum creatine phosphokinase levels limb-girdle muscular dystrophy lung benign neoplasm lung cancer lung carcinoma megaconial type congenital muscular dystrophy microcephaly muscular dystrophy-dystroglycanopathy type B1 muscular dystrophy-dystroglycanopathy type B5 muscular dystrophy-dystroglycanopathy type B6 muscular dystrophy myofibrillar myopathy 1 myofibrillar myopathy 3 narcolepsy nemaline myopathy obsolete autosomal dominant limb-girdle muscular dystrophy type 1A obsolete autosomal dominant limb-girdle muscular dystrophy type 1B obsolete autosomal dominant limb-girdle muscular dystrophy type 1C obsolete autosomal recessive limb-girdle muscular dystrophy type 2R oculopharyngeal muscular dystrophy recurrent hypersomnia restless legs syndrome rigid spine muscular dystrophy 1 rippling muscle disease 2
P22304	Iduronate 2-sulfatase	IDS SIDS	9	9	Balo concentric sclerosis Brugada syndrome 1 Brugada syndrome 2 Brugada syndrome 3 Brugada syndrome 4 Brugada syndrome 5 Brugada syndrome 6 Brugada syndrome 7 Brugada syndrome 8 Brugada syndrome 9 Brugada syndrome Fabry disease Griscelli syndrome type 1 Griscelli syndrome type 2 Griscelli syndrome type 3 Griscelli syndrome Laron syndrome Marfan syndrome Sveinsson chorioretinal atrophy Waardenburg syndrome type 3 X-linked ichthyosis achondroplasia adrenoleukodystrophy agammaglobulinemia allergic asthma alternating hemiplegia of childhood amnestic disorder antiphospholipid syndrome asthma autism spectrum disorder autistic disorder autonomic neuropathy bone marrow cancer brain disease breast cancer breast carcinoma cancer central nervous system disease centronuclear myopathy X-linked centronuclear myopathy cerebral infarction cerebrovascular disease chronic obstructive pulmonary disease chylomicron retention disease communicating hydrocephalus congenital adrenal hyperplasia congenital central hypoventilation syndrome congenital ptosis congenital structural myopathy congestive heart failure craniosynostosis cystinuria depressive disorder diarrhea dysthymic disorder embryoma epilepsy fragile X syndrome galactosemia glucosephosphate dehydrogenase deficiency glycogen storage disease II glycogen storage disease Ia glycogen storage disease glycoproteinosis heart valve disease hydrocephalus hypercalcemia hypertrichosis hypoglycemia inguinal hernia intellectual disability intrinsic asthma learning disability lipid storage disease lung benign neoplasm lung carcinoma lysosomal storage disease major depressive disorder melancholic depression metachromatic leukodystrophy mixed sleep apnea mucopolysaccharidosis I mucopolysaccharidosis II mucopolysaccharidosis III mucopolysaccharidosis IV mucopolysaccharidosis IVA mucopolysaccharidosis Ih mucopolysaccharidosis VI mucopolysaccharidosis type IIIA mucopolysaccharidosis myeloproliferative neoplasm myocarditis myotonic disease myotonic dystrophy type 2 narcolepsy nephrocalcinosis nervous system disease neurotic disorder obsolete intestinal pseudo-obstruction obsolete melancholia obstructive hydrocephalus obstructive sleep apnea ocular albinism with sensorineural deafness oculocutaneous albinism omphalocele optic papillitis osteochondrodysplasia ovarian cancer ovarian carcinoma pancytopenia papilledema paralytic ileus phosphorus metabolism disease post-traumatic stress disorder ptosis retinal edema retrograde amnesia rumination disorder senile degeneration of brain sensorineural hearing loss sick sinus syndrome situs inversus sleep apnea sudden infant death syndrome trichohepatoenteric syndrome 1 trichohepatoenteric syndrome tuberous sclerosis umbilical hernia visual epilepsy
Q96FL9	Polypeptide N-acetylgalactosaminyltransferase 14	GALNT14	3	3	Balo concentric sclerosis Cockayne syndrome Cornelia de Lange syndrome 1 Cornelia de Lange syndrome Dubowitz syndrome Noonan syndrome 10 Noonan syndrome 1 Noonan syndrome 2 Noonan syndrome 3 Noonan syndrome 4 Noonan syndrome 5 Noonan syndrome 6 Noonan syndrome 7 Noonan syndrome 8 Noonan syndrome 9 Noonan syndrome Prader-Willi syndrome Robinow syndrome Seckel syndrome Silver-Russell syndrome X-linked Aarskog syndrome acute myeloid leukemia adrenoleukodystrophy autistic disorder autosomal dominant Robinow syndrome 1 autosomal dominant Robinow syndrome 2 autosomal dominant Robinow syndrome 3 autosomal recessive Robinow syndrome basal cell carcinoma breast cancer breast carcinoma cancer central nervous system disease chondrodysplasia-pseudohermaphroditism syndrome colorectal cancer colorectal carcinoma corneal disease embryoma esophagus squamous cell carcinoma giant cell glioblastoma glioblastoma hepatocellular carcinoma high grade glioma keratoconus large intestine cancer liver cancer liver carcinoma lung adenocarcinoma lung cancer lung non-small cell carcinoma melanoma microcephalic osteodysplastic primordial dwarfism type I microcephalic osteodysplastic primordial dwarfism type II narcolepsy neuroblastoma otitis media ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma signet ring cell adenocarcinoma skin melanoma
P15848	Arylsulfatase B	ARSB	7	18	Balo concentric sclerosis Fabry disease Laron syndrome Machado-Joseph disease Scheie syndrome abdominal obesity-metabolic syndrome 1 achondroplasia adrenoleukodystrophy arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis cancer cardiomyopathy carotid artery disease central nervous system disease chondrodysplasia punctata chronic obstructive pulmonary disease chylomicron retention disease colorectal cancer colorectal carcinoma communicating hydrocephalus congestive heart failure coronary artery disease cystic fibrosis embryoma endomyocardial fibrosis essential hypertension glaucoma glycogen storage disease II hydrocephalus hypertension hypertrichosis hypertrophic cardiomyopathy inguinal hernia large intestine cancer lipid storage disease lung benign neoplasm lysosomal storage disease melanoma metachromatic leukodystrophy mucopolysaccharidosis I mucopolysaccharidosis II mucopolysaccharidosis III mucopolysaccharidosis IV mucopolysaccharidosis IVA mucopolysaccharidosis Ih mucopolysaccharidosis VI mucopolysaccharidosis type IIIA mucopolysaccharidosis myocarditis narcolepsy nervous system disease obstructive hydrocephalus omphalocele osteochondrodysplasia osteonecrosis prostate cancer prostate carcinoma psychotic disorder schizoaffective disorder schizophreniform disorder senile degeneration of brain sensorineural hearing loss skin melanoma spinal cord disease tuberculosis umbilical hernia
P78333	Glypican-5	GPC5	9	1	Balo concentric sclerosis Gilles de la Tourette syndrome MHC class II deficiency Marfan syndrome Simpson-Golabi-Behmel syndrome type 1 adenosine deaminase deficiency adrenoleukodystrophy bronchus cancer bronchus carcinoma cancer cardiac arrest cataract 1 multiple types cataract 10 multiple types cataract 11 multiple types cataract 12 multiple types cataract 13 with adult i phenotype cataract 14 multiple types cataract 15 multiple types cataract 16 multiple types cataract 17 multiple types cataract 18 cataract 19 multiple types cataract 2 multiple types cataract 20 multiple types cataract 21 multiple types cataract 22 multiple types cataract 23 cataract 24 cataract 25 cataract 26 multiple types cataract 27 cataract 29 cataract 3 multiple types cataract 30 cataract 31 multiple types cataract 32 multiple types cataract 33 cataract 34 multiple types cataract 35 cataract 37 cataract 38 cataract 39 multiple types cataract 4 multiple types cataract 40 cataract 41 cataract 42 cataract 43 cataract 44 cataract 45 cataract 46 juvenile-onset cataract 5 multiple types cataract 6 multiple types cataract 7 cataract 8 multiple types cataract 9 multiple types central nervous system cancer central nervous system disease central nervous system lymphoma demyelinating disease diabetes mellitus epithelioid sarcoma familial nephrotic syndrome gliosarcoma glomerulonephritis hemochromatosis type 1 hemochromatosis hepatocellular carcinoma high grade glioma lipoid nephrosis liver cancer lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lymphoma microphthalmia mixed glioma multiple sclerosis myelomeningocele narcolepsy nephritis nephrotic syndrome neuromyelitis optica obsolete Matthew-Wood syndrome obsolete ymphosarcoma ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma pancreatic ductal adenocarcinoma prostate cancer prostate carcinoma proteinuria rhabdomyosarcoma rheumatoid arthritis sarcoma scoliosis severe combined immunodeficiency situs inversus spina bifida spindle cell sarcoma tethered spinal cord syndrome tetralogy of Fallot transthyretin amyloidosis tuberous sclerosis type 2 diabetes mellitus
Q8NBK3	Formylglycine-generating enzyme	SUMF1	2	12	Balo concentric sclerosis Laron syndrome X-linked chondrodysplasia punctata 1 X-linked ichthyosis achondroplasia adrenoleukodystrophy autosomal dominant cerebellar ataxia autosomal dominant chondrodysplasia punctata autosomal recessive spinocerebellar ataxia 16 blindness breast cancer breast carcinoma cancer cataract central nervous system disease cerebral degeneration chondrodysplasia punctata chronic obstructive pulmonary disease communicating hydrocephalus cystic fibrosis embryoma epilepsy hydrocephalus ichthyosis inherited metabolic disorder intellectual disability learning disability lysosomal storage disease metachromatic leukodystrophy microcephaly mucopolysaccharidosis I mucopolysaccharidosis II mucopolysaccharidosis III mucopolysaccharidosis IV mucopolysaccharidosis IVA mucopolysaccharidosis Ih mucopolysaccharidosis VI mucopolysaccharidosis type IIIA mucopolysaccharidosis mucosulfatidosis multiple sclerosis narcolepsy obstructive hydrocephalus optic atrophy recurrent corneal erosion retinal degeneration rhizomelic chondrodysplasia punctata type 1 rhizomelic chondrodysplasia punctata type 2 rhizomelic chondrodysplasia punctata type 3 schizophrenia senile degeneration of brain sensorineural hearing loss visual epilepsy
Q9GZU5	Nyctalopin	NYX CLRP	6	0	Balo concentric sclerosis Leber congenital amaurosis 1 Stargardt disease achromatopsia 3 achromatopsia acquired color blindness adrenoleukodystrophy blue color blindness central nervous system disease color blindness cone-rod dystrophy congenital nystagmus congenital stationary night blindness 1A congenital stationary night blindness 1B congenital stationary night blindness 2A congenital stationary night blindness dissociated nystagmus enhanced S-cone syndrome eye disease fundus albipunctatus hypertropia leukemia mechanical strabismus myopia narcolepsy nervous system disease night blindness ophthalmoplegia pathologic nystagmus red color blindness red-green color blindness retinal disease retinitis pigmentosa retinitis spontaneous ocular nystagmus strabismus

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