GlyCosmos Portal

Homo sapiens (human)

Summary

Taxonomy ID: 9606
PubChem Taxonomy: 9606

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

Displaying entries **1101 - 1125** of **1582** in total

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Gene ID ▼	Gene Name	Gene Symbol	Disease Ontology
5230	phosphoglycerate kinase 1	PGK1	Charcot-Marie-Tooth disease X-linked dominant 1 Charcot-Marie-Tooth disease X-linked dominant 6 Charcot-Marie-Tooth disease X-linked recessive 2 Charcot-Marie-Tooth disease X-linked recessive 3 Charcot-Marie-Tooth disease X-linked recessive 4 Charcot-Marie-Tooth disease X-linked recessive 5 Charcot-Marie-Tooth disease axonal type 2C Charcot-Marie-Tooth disease axonal type 2F Charcot-Marie-Tooth disease axonal type 2H Charcot-Marie-Tooth disease axonal type 2K Charcot-Marie-Tooth disease axonal type 2L Charcot-Marie-Tooth disease axonal type 2N Charcot-Marie-Tooth disease axonal type 2O Charcot-Marie-Tooth disease axonal type 2P Charcot-Marie-Tooth disease axonal type 2Q Charcot-Marie-Tooth disease axonal type 2T Charcot-Marie-Tooth disease axonal type 2U Charcot-Marie-Tooth disease dominant intermediate A Charcot-Marie-Tooth disease dominant intermediate B Charcot-Marie-Tooth disease dominant intermediate C Charcot-Marie-Tooth disease dominant intermediate D Charcot-Marie-Tooth disease dominant intermediate E Charcot-Marie-Tooth disease dominant intermediate F Charcot-Marie-Tooth disease recessive intermediate B Charcot-Marie-Tooth disease recessive intermediate C Charcot-Marie-Tooth disease recessive intermediate D Charcot-Marie-Tooth disease type 1A Charcot-Marie-Tooth disease type 1B Charcot-Marie-Tooth disease type 1C Charcot-Marie-Tooth disease type 1D Charcot-Marie-Tooth disease type 1E Charcot-Marie-Tooth disease type 1F Charcot-Marie-Tooth disease type 2 Charcot-Marie-Tooth disease type 2A1 Charcot-Marie-Tooth disease type 2A2A Charcot-Marie-Tooth disease type 2B1 Charcot-Marie-Tooth disease type 2B2 Charcot-Marie-Tooth disease type 2B Charcot-Marie-Tooth disease type 2D Charcot-Marie-Tooth disease type 2E Charcot-Marie-Tooth disease type 2I Charcot-Marie-Tooth disease type 2J Charcot-Marie-Tooth disease type 2R Charcot-Marie-Tooth disease type 2Y Charcot-Marie-Tooth disease type 4A Charcot-Marie-Tooth disease type 4B1 Charcot-Marie-Tooth disease type 4B2 Charcot-Marie-Tooth disease type 4B3 Charcot-Marie-Tooth disease type 4C Charcot-Marie-Tooth disease type 4D Charcot-Marie-Tooth disease type 4E Charcot-Marie-Tooth disease type 4F Charcot-Marie-Tooth disease type 4G Charcot-Marie-Tooth disease type 4H Charcot-Marie-Tooth disease type 4J Charcot-Marie-Tooth disease type 4K Charcot-Marie-Tooth disease Gilbert syndrome Kawasaki disease Menkes disease Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Wiskott-Aldrich syndrome X-linked cleft palate with or without ankyloglossia X-linked distal spinal muscular atrophy 3 X-linked dystonia-parkinsonism X-linked severe combined immunodeficiency adenosquamous carcinoma agenesis of the corpus callosum with peripheral neuropathy amyotrophic lateral sclerosis anaplastic astrocytoma anemia ankyloblepharon-ectodermal defects-cleft lip/palate syndrome bilirubin metabolic disorder blindness brain cancer breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma cardiomyopathy central nervous system cancer childhood cerebral astrocytoma chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma combined T cell and B cell immunodeficiency congestive heart failure cystinuria embryoma endometrial adenocarcinoma endometrial cancer endometrial carcinoma endomyocardial fibrosis epilepsy esophageal cancer esophageal carcinoma essential thrombocythemia familial periodic paralysis fibrillary astrocytoma fundus dystrophy galactosemia gallbladder cancer gallbladder carcinoma gemistocytic astrocytoma 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 hepatocellular carcinoma hereditary neuropathy with liability to pressure palsies hereditary sensory and autonomic neuropathy type 2 hereditary spherocytosis high grade glioma hypertrophic cardiomyopathy hypohidrotic ectodermal dysplasia intellectual disability juvenile pilocytic astrocytoma kidney failure large intestine cancer learning disability liver cancer liver carcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lupus erythematosus macrocytic anemia malignant astrocytoma melanoma microphthalmia migraine mixed glioma motor peripheral neuropathy myelodysplastic syndrome myoglobinuria myopathy neuroblastoma nonpapillary renal cell carcinoma obsolete Matthew-Wood syndrome obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum occipital horn syndrome ovarian cancer ovarian carcinoma oxyphilic adenoma pancreatic cancer pancreatic carcinoma pancreatic ductal adenocarcinoma papillary adenocarcinoma papillary renal cell carcinoma phosphoglycerate kinase 1 deficiency pilocytic astrocytoma progressive muscular atrophy prostate cancer prostate carcinoma protoplasmic astrocytoma pseudosarcomatous fibromatosis pulmonary large cell neuroendocrine carcinoma pure red-cell aplasia renal carcinoma renal cell carcinoma retinitis pigmentosa 10 rheumatoid arthritis sarcomatoid carcinoma sarcomatoid renal cell carcinoma schizophrenia skin melanoma spinal muscular atrophy stomach cancer stomach carcinoma subependymal giant cell astrocytoma systemic lupus erythematosus thyroid gland papillary carcinoma uterine corpus cancer visual epilepsy
5226	phosphogluconate dehydrogenase	PGD	46,XY sex reversal 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 Down syndrome Huntington's disease-like 1 Huntington's disease-like 2 Huntington's disease Leber hereditary optic neuropathy Leigh disease Marfan syndrome Meckel syndrome 3 Meckel syndrome Pick's disease Plasmodium vivax malaria Reye syndrome Turner syndrome adenocarcinoma adenoma allergic asthma alpha thalassemia-X-linked intellectual disability syndrome alpha thalassemia-intellectual disability syndrome type 1 alpha thalassemia androgen insensitivity syndrome asthma atopic dermatitis autosomal dominant polycystic kidney disease azoospermia beta thalassemia breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer cerebral degeneration cervical adenocarcinoma cervical cancer cervix carcinoma childhood leukemia cribriform carcinoma cutaneous leishmaniasis cystic fibrosis depressive disorder dermatitis disorder of sexual development dysgerminoma dysthymic disorder embryoma esophageal cancer esophageal carcinoma esophagus squamous cell carcinoma fragile X syndrome gonadal dysgenesis gonadoblastoma granular cell carcinoma hemoglobin H disease hepatocellular carcinoma hermaphroditism inflammatory bowel disease 1 inflammatory bowel disease intrinsic asthma leukemia liver cancer lung benign neoplasm lung cancer lung carcinoma major depressive disorder malaria melancholic depression microcephaly microphthalmia mixed gonadal dysgenesis mood disorder myotonic disease myotonic dystrophy type 1 myotonic dystrophy type 2 neurofibromatosis 1 neurofibromatosis neurotic disorder obsolete Matthew-Wood syndrome obsolete melancholia polycystic kidney disease 1 premature menopause pseudohermaphroditism seminoma situs inversus squamous cell carcinoma testicular cancer testicular germ cell cancer testis seminoma thalassemia thyroid gland anaplastic carcinoma tongue squamous cell carcinoma tuberous sclerosis tubular adenocarcinoma ulcerative colitis vitiligo
5224	phosphoglycerate mutase 2	PGAM2 PGAM-M	Cockayne syndrome Cornelia de Lange syndrome D-bifunctional protein deficiency Dubowitz syndrome Greig cephalopolysyndactyly 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 autosomal dominant Robinow syndrome 1 autosomal dominant Robinow syndrome 2 autosomal dominant Robinow syndrome 3 autosomal recessive Robinow syndrome cancer carnitine palmitoyltransferase I deficiency chondrodysplasia-pseudohermaphroditism syndrome cystinuria disease of metabolism endometrial cancer endometrial carcinoma familial periodic paralysis galactosemia 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 isolated elevated serum creatine phosphokinase levels kidney failure microcephalic osteodysplastic primordial dwarfism type I microcephalic osteodysplastic primordial dwarfism type II myoglobinuria myopathy prostate cancer prostate carcinoma pseudosarcomatous fibromatosis uterine corpus cancer
5223	phosphoglycerate mutase 1	PGAM1 PGAM-B Phosphoglycerate mutase A, nonmuscle form	Creutzfeldt-Jakob disease Sertoli cell-only syndrome X-linked spermatogenic failure 1 Y-linked spermatogenic failure 1 adenocarcinoma adenoma anaplastic astrocytoma anemia arthritis arthropathy bipolar disorder bladder carcinoma bone osteosarcoma breast cancer breast carcinoma cancer carcinoma central nervous system cancer childhood cerebral astrocytoma childhood osteosarcoma colorectal cancer colorectal carcinoma cribriform carcinoma embryoma fibrillary astrocytoma gemistocytic astrocytoma giant cell glioblastoma glioblastoma gliosarcoma granular cell carcinoma hepatocellular carcinoma high grade glioma juvenile pilocytic astrocytoma large intestine cancer leiomyoma liver cancer lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma macrocytic anemia malaria malignant astrocytoma microphthalmia mixed glioma myofibroma obsolete Matthew-Wood syndrome oligospermia osteoarthritis osteosarcoma pancreatic ductal adenocarcinoma pilocytic astrocytoma prostate cancer prostate carcinoma protoplasmic astrocytoma sarcomatoid carcinoma squamous cell carcinoma stomach cancer stomach carcinoma subependymal giant cell astrocytoma tongue squamous cell carcinoma tubular adenocarcinoma urinary bladder cancer uterine fibroid
5214	phosphofructokinase, platelet	PFKP PFK-C PFKF Phosphofructokinase, platelet type	adenocarcinoma adenoma breast cancer cancer cholangiocarcinoma cribriform carcinoma disease of metabolism embryoma glycogen storage disease granular cell carcinoma intrahepatic cholangiocarcinoma obesity pancreatic cancer pancreatic carcinoma renal tubular acidosis tubular adenocarcinoma
5213	phosphofructokinase, muscle	PFKM PFK-1 PPP1R122 protein phosphatase 1, regulatory subunit 122	D-bifunctional protein deficiency adenocarcinoma adenoma anemia breast cancer breast carcinoma cancer carcinoma carnitine palmitoyltransferase I deficiency cholecystolithiasis choledocholithiasis cholelithiasis coronary artery disease cribriform carcinoma cystinuria diabetes mellitus disease of metabolism embryoma galactosemia giant cell glioblastoma glioblastoma glucosephosphate dehydrogenase deficiency glycogen storage disease IV glycogen storage disease IXa glycogen storage disease IXb glycogen storage disease IXc glycogen storage disease IXd glycogen storage disease Ia glycogen storage disease VI glycogen storage disease VII glycogen storage disease gout granular cell carcinoma hemolytic anemia hepatocellular carcinoma high grade glioma hyperglycemia hyperuricemia liver cancer liver carcinoma macrocytic anemia pancreatic cancer pancreatic carcinoma pseudosarcomatous fibromatosis renal tubular acidosis sarcomatoid carcinoma schizophrenia tuberculosis tubular adenocarcinoma type 2 diabetes mellitus
5211	phosphofructokinase, liver type	PFKL	Down syndrome Lafora disease Unverricht-Lundborg syndrome arteriosclerotic cardiovascular disease atherosclerosis bipolar disorder coronary artery disease cystinuria dentatorubral-pallidoluysian atrophy disease of metabolism early myoclonic encephalopathy galactosemia 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 hepatocellular carcinoma liver cancer mood disorder obsolete major affective disorder 1 obsolete major affective disorder 2 progressive myoclonus epilepsy 1A progressive myoclonus epilepsy tetralogy of Fallot ventricular septal defect
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
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
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
5207	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	PFKFB1	Zollinger-Ellison syndrome cancer hyperinsulinism stomach 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
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
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
5164	pyruvate dehydrogenase kinase 2	PDK2
5163	pyruvate dehydrogenase kinase 1	PDK1
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
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
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
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
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
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
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
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
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

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