GlyCosmos Portal

Homo sapiens (human)

Summary

Taxonomy ID: 9606
PubChem Taxonomy: 9606

Genes (1582) Glycans (5831) Glycoproteins (18496) Lectins (298) Pathways (2090)

Displaying entries **451 - 475** of **1582** in total

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Gene ID ▲	Gene Name	Gene Symbol	Disease Ontology
5019	3-oxoacid CoA-transferase 1	OXCT1 SCOT Succinyl-CoA:3-ketoacid-CoA transferase	arteriosclerotic cardiovascular disease atherosclerosis beta-ketothiolase deficiency cancer carbohydrate metabolic disorder central nervous system cancer coronary artery disease diabetes mellitus embryoma gliosarcoma hepatocellular carcinoma high grade glioma liver cancer localized scleroderma mixed glioma nutmeg liver obesity osteoporosis phenylketonuria reflex sympathetic dystrophy scleroderma sickle cell anemia systemic scleroderma type 2 diabetes mellitus
5048	platelet activating factor acetylhydrolase 1b regulatory subunit 1	PAFAH1B1 LIS1 NudF PAFAH lissencephaly-1	3p deletion syndrome Alzheimer's disease Angelman syndrome B-cell lymphoma Behcet's disease Crohn's colitis Crohn's disease Ewing sarcoma Gaucher's disease type I Gaucher's disease Hodgkin's granuloma Hodgkin's lymphoma, lymphocytic depletion Hodgkin's lymphoma, lymphocytic-histiocytic predominance Hodgkin's lymphoma, mixed cellularity Hodgkin's lymphoma Joubert syndrome Langerhans-cell histiocytosis Marfan syndrome Miller-Dieker lissencephaly syndrome NFIA-related disorder Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease REM sleep behavior disorder Rett syndrome SATB2-associated syndrome Shwachman-Diamond syndrome Smith-Magenis syndrome West syndrome X-linked juvenile retinoschisis 1 Zellweger syndrome acute monocytic leukemia acute myeloid leukemia adult medulloblastoma adult respiratory distress syndrome aggressive periodontitis allergic asthma alternating hemiplegia of childhood anxiety disorder aplastic anemia asthma autism spectrum disorder autistic disorder autonomic neuropathy bone marrow cancer bone osteosarcoma bronchus cancer bronchus carcinoma cancer central nervous system disease childhood acute myeloid leukemia childhood leukemia childhood medulloblastoma childhood osteosarcoma chromophobe renal cell carcinoma chromosome 13q14 deletion syndrome chromosome 15q13.3 microdeletion syndrome chromosome 15q24 deletion syndrome chromosome 15q26-qter deletion syndrome chromosome 16p11.2 deletion syndrome, 220-kb chromosome 16p12.2-p11.2 deletion syndrome chromosome 17p13.1 deletion syndrome chromosome 17p13.3 duplication syndrome chromosome 17q12 deletion syndrome chromosome 17q23.1-q23.2 deletion syndrome chromosome 18q deletion syndrome chromosome 1q21.1 deletion syndrome chromosome 1q41-q42 deletion syndrome chromosome 2p16.1-p15 deletion syndrome chromosome 6pter-p24 deletion syndrome chromosome 8q21.11 deletion syndrome chromosome 9p deletion syndrome chronic monocytic leukemia chronic myelomonocytic leukemia clear cell renal cell carcinoma collecting duct carcinoma coloboma communicating hydrocephalus complex cortical dysplasia with other brain malformations 1 complex cortical dysplasia with other brain malformations 7 congestive heart failure cortical dysplasia-focal epilepsy syndrome dementia depressive disorder distal 10q deletion syndrome distal arthrogryposis dysthymic disorder dystonia embryoma epilepsy essential thrombocythemia essential tremor familial adenomatous polyposis 1 familial adenomatous polyposis generalized anxiety disorder giant cell glioblastoma glioblastoma glomerulonephritis hematologic cancer hepatocellular carcinoma high grade glioma hydranencephaly hydrocephalus impulse control disorder inclusion body myositis inflammatory bowel disease 1 inflammatory bowel disease inguinal hernia intellectual disability intermittent explosive disorder intrinsic asthma islet cell tumor juvenile myelomonocytic leukemia kidney disease kleptomania late onset Parkinson's disease learning disability leukemia lingual-facial-buccal dyskinesia lissencephaly 1 lissencephaly liver cancer lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lymphoma major depressive disorder medulloblastoma medullomyoblastoma melancholic depression melanotic medulloblastoma microcephaly mood disorder movement disease multiple myeloma multiple system atrophy myelodysplastic syndrome myelodysplastic/myeloproliferative neoplasm myeloproliferative neoplasm nephritis nephrosis nervous system disease neurotic disorder newborn respiratory distress syndrome non-Hodgkin lymphoma nonpapillary renal cell carcinoma obsolete constipation obsolete infantile epileptic encephalopathy obsolete melancholia obsolete ymphosarcoma obstructive hydrocephalus oculocerebrorenal syndrome omphalocele osteosarcoma papillary renal cell carcinoma periodontosis periventricular nodular heterotopia peroxisome biogenesis disorder 1A phobic disorder polycystic ovary syndrome polyhydramnios pontocerebellar hypoplasia type 2D pontocerebellar hypoplasia type 7 pontocerebellar hypoplasia type 8 pontocerebellar hypoplasia type 9 postural orthostatic tachycardia syndrome progressive supranuclear palsy psychotic disorder pyoureter renal carcinoma renal cell carcinoma reticulosarcoma retinitis pigmentosa 13 sarcomatoid renal cell carcinoma schizoaffective disorder schizophrenia schizophreniform disorder secondary Parkinson disease senile degeneration of brain septooptic dysplasia short-rib thoracic dysplasia 14 with polydactyly situs inversus speech disorder subcortical band heterotopia syndromic X-linked intellectual disability Najm type trichohepatoenteric syndrome 1 trichohepatoenteric syndrome tuberous sclerosis ulcerative colitis umbilical hernia vascular disease visual epilepsy
5049	platelet activating factor acetylhydrolase 1b catalytic subunit 2	PAFAH1B2 PAF-AH1b alpha 2 subunit	Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease Pick's disease Reye syndrome cancer cerebral degeneration embryoma lymphoma microphthalmia obsolete Matthew-Wood syndrome pancreatic cancer pancreatic carcinoma pancreatic ductal adenocarcinoma
5050	platelet activating factor acetylhydrolase 1b catalytic subunit 3	PAFAH1B3 PAF-AH1b alpha 1 subunit	intellectual disability learning disability
5051	platelet activating factor acetylhydrolase 2	PAFAH2 HSD-PLA2	coronary artery disease
5067	contactin 3	CNTN3 BIG-1	ACTH-secreting pituitary adenoma Baraitser-Winter syndrome Fraser syndrome Goldenhar syndrome Moebius syndrome Muenke Syndrome Nance-Horan syndrome Raynaud disease Sakati-Nyhan syndrome Warburg micro syndrome 1 Warburg micro syndrome 2 Warburg micro syndrome 3 Warburg micro syndrome 4 Weissenbacher-Zweymuller syndrome abdominal aortic aneurysm abdominal obesity-metabolic syndrome 1 allergic contact dermatitis anxiety disorder arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis autistic disorder branchiootic syndrome breast cancer breast carcinoma cancer cardiomyopathy catecholaminergic polymorphic ventricular tachycardia 1 catecholaminergic polymorphic ventricular tachycardia chronic kidney disease colitis cone-rod dystrophy 2 cone-rod dystrophy coronary artery disease depressive disorder diarrhea dilated cardiomyopathy 1B distal arthrogryposis dry eye syndrome dysthymic disorder embryoma endomyocardial fibrosis essential hypertension familial hypertrophic cardiomyopathy fibromyalgia gastroenteritis generalized anxiety disorder giant cell glioblastoma glioblastoma glomerulonephritis high grade glioma hypertension hypertrophic cardiomyopathy ileitis ileocolitis kidney disease long QT syndrome major depressive disorder melancholic depression morbid obesity mosaic variegated aneuploidy syndrome 1 nephritis nephrosis neurotic disorder obesity obsolete melancholia orofaciodigital syndrome I orofaciodigital syndrome X paraplegia parapsoriasis peripheral artery disease phobic disorder pituitary-dependent Cushing's disease pityriasis rubra pilaris post-traumatic stress disorder prolactinoma psoriasis pustulosis of palm and sole pyoureter restless legs syndrome spinal cord disease trichohepatoenteric syndrome 1 trichohepatoenteric syndrome xerophthalmia
5091	pyruvate carboxylase	PC PCB	Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease B-cell lymphoma Burkitt lymphoma Graves' disease Hodgkin's granuloma Hodgkin's lymphoma, lymphocytic depletion Hodgkin's lymphoma, lymphocytic-histiocytic predominance Hodgkin's lymphoma, mixed cellularity Hodgkin's lymphoma Huntington's disease-like 1 Huntington's disease-like 2 Huntington's disease Langerhans-cell histiocytosis Pick's disease Reye syndrome Sjogren's syndrome abdominal obesity-metabolic syndrome 1 acute myocardial infarction adult fibrosarcoma alcohol dependence alcohol use disorder allergic asthma antiphospholipid syndrome antithrombin III deficiency anxiety disorder arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease asthma atherosclerosis attention deficit hyperactivity disorder autistic disorder autoimmune polyendocrine syndrome autosomal dominant familial periodic fever bacterial sepsis beta thalassemia bipolar disorder blood coagulation disease breast cancer breast carcinoma cancer cardiovascular system disease cerebral degeneration cerebral infarction cerebrovascular disease cervical adenocarcinoma cervical cancer cervix carcinoma colitis congenital afibrinogenemia coronary artery disease coronary thrombosis diabetes mellitus diabetic ketoacidosis disseminated intravascular coagulation embryoma enterobiasis epilepsy essential hypertension factor V deficiency factor VII deficiency familial hyperlipidemia fibrosarcoma gallbladder cancer gallbladder carcinoma gastroenteritis generalized anxiety disorder glomerulonephritis heart disease hemoglobin H disease hepatitis hepatocellular carcinoma holocarboxylase synthetase deficiency hyperglycemia hyperhomocysteinemia hyperlysinemia hypertension hyperthyroidism hyperuricemia hypoglycemia ileitis ileocolitis immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome inflammatory bowel disease intellectual disability intestinal schistosomiasis intracranial sinus thrombosis ischemic colitis keratoconjunctivitis sicca kidney disease kwashiorkor lactic acidosis learning disability leukodystrophy liver cancer liver cirrhosis lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lung squamous cell carcinoma lupus erythematosus lymphoma malignant exocrine pancreas neoplasm marasmus melanoma multiple sclerosis myocardial infarction nephritis nephrosis non-Hodgkin lymphoma nutrition disease obesity obsolete inherited blood coagulation disease obsolete ymphosarcoma papillary adenocarcinoma papillary renal cell carcinoma periventricular leukomalacia phobic disorder portal vein thrombosis protein C deficiency protein S deficiency protein-energy malnutrition purpura fulminans pyoureter pyruvate carboxylase deficiency disease pyruvate decarboxylase deficiency renal tubular acidosis reticulosarcoma schistosomiasis silent myocardial infarction skin melanoma steatotic liver disease synovial sarcoma systemic lupus erythematosus thalassemia thrombophilia thyroid gland papillary carcinoma thyrotoxicosis trichinosis tuberculosis type 2 diabetes mellitus urea cycle disorder visual epilepsy vitamin K deficiency bleeding
5095	propionyl-CoA carboxylase subunit alpha	PCCA	Laron syndrome achondroplasia acute pancreatitis adenocarcinoma adenoma agranulocytosis amino acid metabolic disorder anemia cardiomyopathy cerebral degeneration colorectal cancer colorectal carcinoma cribriform carcinoma dermatitis dilated cardiomyopathy 1A dilated cardiomyopathy disease of metabolism dystonia endomyocardial fibrosis epilepsy granular cell carcinoma hypertrophic cardiomyopathy hypoglycemia intellectual disability lactic acidosis large intestine cancer learning disability macrocytic anemia neutropenia nicotine dependence obsolete constipation osteoporosis pancreatitis pancytopenia pontocerebellar hypoplasia type 2D propionic acidemia psoriatic arthritis refractive error severe congenital neutropenia sick sinus syndrome stomach cancer stomach carcinoma thrombocytopenia tubular adenocarcinoma urea cycle disorder visual epilepsy
5096	propionyl-CoA carboxylase subunit beta	PCCB	Laron syndrome achondroplasia acute pancreatitis adenocarcinoma adenoma agranulocytosis amino acid metabolic disorder anemia anxiety disorder cardiomyopathy cerebral degeneration colorectal cancer colorectal carcinoma cribriform carcinoma dermatitis dilated cardiomyopathy 1A dilated cardiomyopathy disease of metabolism dystonia endomyocardial fibrosis epilepsy generalized anxiety disorder granular cell carcinoma hypertrophic cardiomyopathy hypoglycemia intellectual disability lactic acidosis large intestine cancer learning disability macrocytic anemia neutropenia obsolete constipation osteoporosis pancreatitis pancytopenia pontocerebellar hypoplasia type 2D propionic acidemia psoriatic arthritis schizophrenia severe congenital neutropenia sick sinus syndrome thrombocytopenia tubular adenocarcinoma urea cycle disorder visual epilepsy
5105	phosphoenolpyruvate carboxykinase 1	PCK1 PEPCK-C	Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease Pick's disease Reye syndrome abdominal obesity-metabolic syndrome 1 biliary atresia cancer celiac disease cerebral degeneration colorectal cancer colorectal carcinoma congenital generalized lipodystrophy type 1 congenital generalized lipodystrophy type 2 congenital generalized lipodystrophy type 3 congenital generalized lipodystrophy type 4 congestive heart failure cryptococcosis cystic fibrosis diabetes mellitus diabetic ketoacidosis embryoma epilepsy gestational diabetes hepatic coma hepatic encephalopathy hepatocellular carcinoma hyperglycemia hypoglycemia lactic acidosis large intestine cancer leprosy lipoatrophic diabetes mellitus lipodystrophy liver cancer liver carcinoma maturity-onset diabetes of the young metabolic dysfunction-associated steatohepatitis multiple sclerosis obesity optic atrophy placental insufficiency pyruvate carboxylase deficiency disease pyruvate decarboxylase deficiency schizophrenia steatotic liver disease type 2 diabetes mellitus visual epilepsy
5106	phosphoenolpyruvate carboxykinase 2, mitochondrial	PCK2 PEPCK PEPCK2	abdominal obesity-metabolic syndrome 1 bone osteosarcoma bronchus cancer bronchus carcinoma cancer childhood osteosarcoma diabetes mellitus diabetic ketoacidosis disease of metabolism embryoma hepatitis C hepatocellular carcinoma hyperglycemia hypoglycemia kwashiorkor liver cancer liver carcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma marasmus melanoma nutrition disease obesity osteosarcoma prostate cancer prostate carcinoma protein-energy malnutrition pyruvate carboxylase deficiency disease pyruvate decarboxylase deficiency rectal benign neoplasm rectum adenocarcinoma rectum cancer skin melanoma steatotic liver disease type 2 diabetes mellitus viral infectious disease
5111	proliferating cell nuclear antigen	PCNA	Lewy body dementia ataxia-telangiectasia-like disorder-2 brain ischemia hepatocellular carcinoma hypothyroidism invasive ductal carcinoma leiomyoma liver cancer mucositis nephroblastoma obstructive jaundice osteoporosis renal cell carcinoma sciatic neuropathy seminoma stomach cancer transient cerebral ischemia
5130	phosphate cytidylyltransferase 1A, choline	PCYT1A CCTalpha CT CTP:phosphocholine cytidylyltransferase-alpha CTPCT choline-phosphate cytidylyltransferase alpha phosphate cytidylyltransferase 1, choline, alpha isoform phosphorylcholine transferase alpha	Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease Cockayne syndrome Down syndrome Graves' disease Laron syndrome Leber congenital amaurosis Pick's disease Prinzmetal angina Reye syndrome Richter's syndrome Turner syndrome X-linked dilated cardiomyopathy abdominal aortic aneurysm abdominal obesity-metabolic syndrome 1 achondroplasia achromatopsia acquired color blindness acute chest syndrome acute myeloid leukemia acute myocardial infarction acute vascular insufficiency of intestine adult medulloblastoma alopecia anxiety disorder aortic aneurysm aortitis appendicitis arteriosclerotic cardiovascular disease arteriovenous malformation arteriovenous malformations of the brain astigmatism atherosclerosis atrial fibrillation atrial heart septal defect 1 atrial heart septal defect 2 atrial heart septal defect 3 atrial heart septal defect 4 atrial heart septal defect 5 atrial heart septal defect 6 atrial heart septal defect 7 atrial heart septal defect 8 atrial heart septal defect 9 atrial heart septal defect atrioventricular septal defect atypical chronic myeloid leukemia, BCR-ABL1 negative autism spectrum disorder autistic disorder autoimmune thyroiditis blindness blue color blindness bone disease bone marrow cancer bone osteosarcoma brain cancer brain stem infarction bronchus cancer bronchus carcinoma cancer cardiac tamponade carotid artery thrombosis carotid stenosis cartilage disease cataract central sleep apnea cerebellar ataxia cerebellar disease cerebral artery occlusion cerebral degeneration cerebral infarction cerebrovascular disease childhood medulloblastoma childhood osteosarcoma cholangiocarcinoma chronic kidney disease chronic lymphocytic leukemia chronic monocytic leukemia chronic myeloid leukemia collagen disease colon cancer colon carcinoma colonic benign neoplasm color blindness colorectal cancer colorectal carcinoma congenital generalized lipodystrophy type 1 congenital generalized lipodystrophy type 2 congenital generalized lipodystrophy type 3 congenital generalized lipodystrophy type 4 congenital generalized lipodystrophy congenital nystagmus congenital stationary night blindness 1A congenital stationary night blindness connective tissue disease corneal disease coronary artery anomaly coronary artery disease coronary stenosis coronary thrombosis diabetes mellitus diabetic ketoacidosis diffuse large B-cell lymphoma 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 dissociated nystagmus embryoma embryonal cancer endocarditis epilepsy episodic kinesigenic dyskinesia 1 esophageal cancer esophageal carcinoma essential hypertension extramedullary plasmacytoma familial adenomatous polyposis fibromyalgia fundus dystrophy generalized anxiety disorder germ cell and embryonal cancer germ cell cancer germinoma giant cell glioblastoma glioblastoma gonadal dysgenesis head and neck cancer hematologic cancer hepatitis B hepatitis C hepatocellular carcinoma high grade glioma hypertension hyperthyroidism impotence infective endocarditis insulinoma intellectual disability intermittent claudication intracranial aneurysm intracranial thrombosis intrahepatic cholangiocarcinoma intussusception islet cell tumor keratoconus large intestine cancer learning disability lipoatrophic diabetes mellitus lipodystrophy liver cancer lung benign neoplasm lung cancer lung carcinoma lymphoid leukemia medulloblastoma medullomyoblastoma melanoma melanotic medulloblastoma multiple myeloma myeloid leukemia myelomeningocele myeloproliferative neoplasm myocardial infarction myopia neuroendocrine carcinoma neuroendocrine tumor night blindness nutmeg liver obsolete asthenopia osteoarthritis osteosarcoma ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma papillary adenocarcinoma papillary renal cell carcinoma patent foramen ovale pathologic nystagmus peripheral artery disease peripheral vascular disease phobic disorder plasmacytoma polycythemia vera premature ejaculation primary pulmonary hypertension prostate cancer prostate carcinoma psychologic dyspareunia pterygium pulmonary embolism red color blindness red-green color blindness rheumatoid arthritis schizophrenia scoliosis seminoma sensorineural hearing loss sick sinus syndrome silent myocardial infarction skin melanoma spina bifida spinocerebellar ataxia type 8 split hand-foot malformation 1 spondyloepimetaphyseal dysplasia, Strudwick type spondylometaphyseal dysplasia with cone-rod dystrophy spontaneous ocular nystagmus squamous cell carcinoma squamous cell neoplasm subacute bacterial endocarditis superior mesenteric artery syndrome testicular cancer testis seminoma tethered spinal cord syndrome thyroid gland papillary carcinoma thyrotoxicosis tongue squamous cell carcinoma type 2 diabetes mellitus urinary bladder cancer visual epilepsy
5160	pyruvate dehydrogenase E1 subunit alpha 1	PDHA1 E1alpha pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial	Coffin-Lowry syndrome Leigh disease Lewy body dementia Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease West syndrome abdominal obesity-metabolic syndrome 1 anemia arthritis arthropathy basal ganglia disease bile duct adenocarcinoma bile duct carcinoma blepharospasm cancer carcinoma cardiomyopathy cerebellar ataxia cerebellar disease cerebral degeneration cerebral palsy cholangiocarcinoma communicating hydrocephalus cone-rod dystrophy congenital nystagmus congenital ptosis coronary artery disease disease of metabolism dissociated nystagmus dystonia embryoma endomyocardial fibrosis epilepsy episodic ataxia esophageal cancer esophageal carcinoma esophagus squamous cell carcinoma familial hypertrophic cardiomyopathy fetal akinesia deformation sequence syndrome 1 fetal akinesia deformation sequence syndrome focal hand dystonia fundus albipunctatus generalized dystonia head and neck squamous cell carcinoma hemiplegia hepatocellular carcinoma hydrocephalus hypertrichosis hypertrophic cardiomyopathy hypertropia inherited metabolic disorder intellectual disability intrahepatic cholangiocarcinoma lactic acidosis learning disability leukodystrophy lingual-facial-buccal dyskinesia liver cancer macrocytic anemia mechanical strabismus microcephaly mitochondrial metabolism disease mitochondrial myopathy movement disease neuropathy obsolete infantile epileptic encephalopathy obstructive hydrocephalus ophthalmoplegia optic atrophy osteoarthritis pathologic nystagmus peripheral nervous system disease placental insufficiency prostate cancer prostate carcinoma ptosis pyruvate carboxylase deficiency disease pyruvate decarboxylase deficiency retinal degeneration retinitis pigmentosa sarcomatoid carcinoma senile degeneration of brain sensorineural hearing loss spastic diplegia spastic monoplegia spastic quadriplegic cerebral palsy spontaneous ocular nystagmus stomach cancer stomach carcinoma strabismus syndromic X-linked intellectual disability 94 ventricular septal defect visual epilepsy
5161	pyruvate dehydrogenase E1 subunit alpha 2	PDHA2	Marfan syndrome azoospermia disease of metabolism male infertility pyruvate carboxylase deficiency disease pyruvate decarboxylase deficiency retinal degeneration situs inversus spermatogenic failure 1 spermatogenic failure tuberous sclerosis
5162	pyruvate dehydrogenase E1 subunit beta	PDHB E1beta PDHE1B	Leigh disease acute myocardial infarction breast cancer breast carcinoma chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma coronary thrombosis diabetes mellitus lactic acidosis luminal breast carcinoma A melanoma myocardial infarction nonpapillary renal cell carcinoma papillary adenocarcinoma papillary renal cell carcinoma pyruvate carboxylase deficiency disease pyruvate decarboxylase deficiency renal carcinoma renal cell carcinoma sarcomatoid renal cell carcinoma silent myocardial infarction skin melanoma thyroid gland papillary carcinoma type 2 diabetes mellitus
5163	pyruvate dehydrogenase kinase 1	PDK1
5164	pyruvate dehydrogenase kinase 2	PDK2
5167	ectonucleotide pyrophosphatase/phosphodiesterase 1	ENPP1 PC-1 PCA1	Ehlers-Danlos syndrome HCL-V Laron syndrome McCune Albright syndrome X-linked dominant hypophosphatemic rickets Zollinger-Ellison syndrome abdominal obesity-metabolic syndrome 1 achondroplasia acne acquired hyperkeratosis acute myocardial infarction adult astrocytic tumor allergic asthma amelogenesis imperfecta anaplastic astrocytoma anemia angioid streaks ankylosing spondylitis ankylosis aortic valve disease 1 aortic valve disease 2 aortic valve disease aortic valve stenosis arterial calcification of infancy arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy asthma atherosclerosis autosomal dominant hypophosphatemic rickets autosomal recessive hypophosphatemic rickets autosomal recessive osteopetrosis 7 bicuspid aortic valve disease bile duct adenocarcinoma bile duct cancer bile duct carcinoma bile duct disease blindness bone disease brain cancer breast cancer breast carcinoma bronchus cancer bronchus carcinoma calcinosis calcium metabolism disease cancer carcinoma cardiovascular system disease carotid artery disease cartilage disease cerebral infarction cerebrovascular disease childhood astrocytic tumor childhood cerebral astrocytoma cholangiocarcinoma chondrocalcinosis chronic kidney disease colorectal cancer colorectal carcinoma congenital hypothyroidism congenital toxoplasmosis congestive heart failure connective tissue disease coronary artery disease coronary thrombosis craniosynostosis diabetes mellitus diabetic ketoacidosis embryoma encephalitis encephalomyelitis end stage renal disease endometriosis of ovary endometriosis of uterus endometriosis enthesopathy essential hypertension exanthem fibrillary astrocytoma gemistocytic astrocytoma gestational diabetes giant cell glioblastoma glioblastoma glomerulonephritis glucose intolerance hairy cell leukemia heart disease hepatitis C hepatocellular carcinoma hereditary elliptocytosis herpes simplex high grade glioma hypercalcemia hypercementosis hyperglycemia hyperinsulinism hyperphosphatemic familial tumoral calcinosis hypertension hypophosphatemia hypothyroidism insulinoma intermittent claudication intrinsic asthma juvenile pilocytic astrocytoma keratosis follicularis kidney disease kidney failure large intestine cancer linear nevus sebaceous syndrome liver cancer lung benign neoplasm lung cancer lung carcinoma macrocytic anemia malignant astrocytoma melanoma mitral valve insufficiency mitral valve prolapse mongolian spot monoclonal gammopathy of uncertain significance morbid obesity mucopolysaccharidosis IV multiple epiphyseal dysplasia multiple myeloma musculoskeletal system disease myelitis myocardial infarction myopia myxedema nephritis nephrocalcinosis nephrosis neurogenic arthropathy nodular prostate nonepidermolytic palmoplantar keratoderma nutmeg liver obesity obsolete type 1 diabetes mellitus 9 ossification of the posterior longitudinal ligament of spine osteoarthritis osteochondrodysplasia osteogenesis imperfecta osteomalacia osteopetrosis osteoporosis osteosclerosis otitis media palmoplantar keratosis pancreatic cancer pancreatic carcinoma periarthritis perinatal intestinal perforation peripheral artery disease peripheral vascular disease phosphorus metabolism disease pilocytic astrocytoma plasmacytoma pneumocystosis polycystic ovary syndrome polycythemia vera polycythemia postural orthostatic tachycardia syndrome pre-eclampsia prediabetes syndrome prostate cancer prostate carcinoma prostatic adenoma protoplasmic astrocytoma pseudoxanthoma elasticum pulmonary valve stenosis pyoureter restrictive cardiomyopathy retinal disease retinitis rheumatoid arthritis rickets sarcomatoid carcinoma scoliosis sensorineural hearing loss silent myocardial infarction skin melanoma spondyloarthropathy spondylosis steatotic liver disease subependymal giant cell astrocytoma suppurative periapical periodontitis tendinitis tropical sprue tympanosclerosis 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 uremia viral infectious disease
5168	ectonucleotide pyrophosphatase/phosphodiesterase 2	ENPP2 ATX PD-IALPHA autotaxin	Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease Graves' disease Hodgkin's granuloma Hodgkin's lymphoma, lymphocytic depletion Hodgkin's lymphoma, lymphocytic-histiocytic predominance Hodgkin's lymphoma, mixed cellularity Hodgkin's lymphoma Pick's disease Reye syndrome actinic keratosis adult hepatocellular carcinoma alternating hemiplegia of childhood arthritis arthropathy ataxia telangiectasia autonomic neuropathy autosomal dominant cerebellar ataxia biliary atresia bladder carcinoma blood coagulation disease brain stem infarction breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer central nervous system disease cerebral artery occlusion cerebral degeneration cerebral infarction cerebrovascular disease childhood hepatocellular carcinoma choroid plexus cancer chromophobe renal cell carcinoma clear cell renal cell carcinoma colitis collecting duct carcinoma dedifferentiated liposarcoma disease of metabolism embryoma epithelioid sarcoma fibrodysplasia ossificans progressiva fibromyalgia gallbladder disease gastroenteritis giant cell glioblastoma glioblastoma hepatitis C hepatitis hepatocellular carcinoma high grade glioma hyperthyroidism idiopathic interstitial pneumonia idiopathic pulmonary fibrosis ileitis ileocolitis liposarcoma liver cancer liver cirrhosis liver disease localized scleroderma lung benign neoplasm lung cancer lung carcinoma multiple myeloma multiple sclerosis myositis ossificans nervous system disease neuroblastoma nodular prostate nonpapillary renal cell carcinoma obesity obsolete inherited blood coagulation disease ovarian cancer ovarian carcinoma papillary adenocarcinoma papillary renal cell carcinoma pleomorphic liposarcoma proliferative diabetic retinopathy prostate cancer prostate carcinoma prostatic adenoma renal carcinoma renal cell carcinoma rheumatoid arthritis sarcoma sarcomatoid renal cell carcinoma scleroderma seborrheic keratosis skin disease spindle cell sarcoma spinocerebellar ataxia type 7 systemic scleroderma thyroid adenoma thyroid cancer thyroid gland carcinoma thyroid gland follicular carcinoma thyroid gland papillary carcinoma thyrotoxicosis ulcerative colitis urinary bladder cancer
5169	ectonucleotide pyrophosphatase/phosphodiesterase 3	ENPP3 B10 CD203c PD-IBETA gp130RB13-6	acute myeloid leukemia adrenal carcinoma adrenal cortex cancer adrenocortical carcinoma allergic rhinitis benign mastocytoma bile duct adenocarcinoma bile duct cancer bile duct carcinoma cancer carcinoma cholangiocarcinoma choriocarcinoma chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer embryoma endometriosis of ovary endometriosis of uterus endometriosis extracutaneous mastocytoma hepatocellular carcinoma idiopathic scoliosis large intestine cancer liver cancer mast cell neoplasm mast-cell leukemia mastocytosis papillary renal cell carcinoma placenta cancer renal carcinoma renal cell carcinoma sarcomatoid renal cell carcinoma urticaria pigmentosa vasomotor rhinitis wheat allergy
5207	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	PFKFB1	Zollinger-Ellison syndrome cancer hyperinsulinism stomach cancer
5208	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2	PFKFB2	bone osteosarcoma breast cancer cancer childhood acute lymphocytic leukemia diabetes mellitus embryoma giant cell glioblastoma glioblastoma high grade glioma melanoma osteosarcoma placental insufficiency skin melanoma stomach cancer type 2 diabetes mellitus
5209	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	PFKFB3	Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease Fanconi anemia complementation group A Fanconi anemia Pick's disease Reye syndrome actinic keratosis acute myeloid leukemia adenocarcinoma adenoma anaplastic astrocytoma arthritis arthropathy bacterial sepsis bipolar disorder bladder carcinoma bone marrow cancer bone osteosarcoma brain stem infarction breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer cerebral artery occlusion cerebral degeneration cerebral infarction cerebrovascular disease childhood cerebral astrocytoma childhood osteosarcoma chronic myeloid leukemia colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma coronary artery disease cribriform carcinoma depressive disorder dermatophytosis diabetes mellitus diabetic ketoacidosis embryoma esophagus squamous cell carcinoma essential hypertension extrinsic cardiomyopathy fibrillary astrocytoma fungal infectious disease gemistocytic astrocytoma giant cell glioblastoma glioblastoma granular cell carcinoma head and neck squamous cell carcinoma hepatocellular carcinoma high grade glioma hypertension hypoglycemia juvenile pilocytic astrocytoma large intestine cancer liver cancer lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma major depressive disorder malignant astrocytoma malignant pleural mesothelioma melancholic depression melanoma mood disorder morbid obesity multiple myeloma myeloproliferative neoplasm nasopharynx carcinoma neuroblastoma neurotic disorder obesity obsolete melancholia obsolete type 1 diabetes mellitus 9 osteoarthritis osteosarcoma pancreatic cancer pilocytic astrocytoma primary pulmonary hypertension prostate cancer prostate carcinoma protoplasmic astrocytoma psoriatic arthritis rheumatoid arthritis seborrheic keratosis skin disease skin melanoma squamous cell carcinoma stomach cancer stomach carcinoma subependymal giant cell astrocytoma thyroid adenoma thyroid cancer thyroid gland carcinoma tongue squamous cell carcinoma 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
5210	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4	PFKFB4	anaplastic astrocytoma bladder carcinoma breast cancer breast carcinoma cancer central nervous system cancer childhood cerebral astrocytoma embryoma fibrillary astrocytoma gemistocytic astrocytoma giant cell glioblastoma glioblastoma gliosarcoma hepatocellular carcinoma high grade glioma invasive ductal carcinoma juvenile pilocytic astrocytoma liver cancer lung benign neoplasm lung carcinoma lung small cell carcinoma malignant astrocytoma melanoma mixed glioma pancreatic cancer pancreatic carcinoma pilocytic astrocytoma prostate cancer prostate carcinoma protoplasmic astrocytoma skin melanoma stomach cancer stomach carcinoma subependymal giant cell astrocytoma urinary bladder cancer

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