GlyCosmos Portal

Homo sapiens (human)

Summary

Taxonomy ID: 9606
PubChem Taxonomy: 9606

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

Displaying entries **476 - 500** of **1582** in total

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Gene ID	Gene Name	Gene Symbol ▲	Disease Ontology
1943	ephrin A2	EFNA2 ELF-1 EPH-related receptor tyrosine kinase ligand 6 LERK6	acute myeloid leukemia breast cancer breast carcinoma cancer cervical adenocarcinoma cervical cancer cervix carcinoma chronic granulomatous disease embryoma endometrial cancer endometrial carcinoma familial retinoblastoma gastrointestinal system cancer giant cell glioblastoma glioblastoma high grade glioma lupus erythematosus nasopharynx carcinoma nodular prostate pancreatic cancer pancreatic carcinoma prostate cancer prostate carcinoma prostatic adenoma retinoblastoma stomach cancer stomach carcinoma systemic lupus erythematosus trilateral retinoblastoma uterine corpus cancer
1946	ephrin A5	EFNA5 AF1 EPH-related receptor tyrosine kinase ligand 7 LERK7	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 Ambras type hypertrichosis universalis congenita IGSF1 deficiency syndrome Norum disease Pick's disease Reye syndrome Tangier disease abdominal aortic aneurysm abetalipoproteinemia acquired immunodeficiency syndrome acute lymphoblastic leukemia acute myeloid leukemia adult medulloblastoma amyotrophic lateral sclerosis anencephaly arteriosclerotic cardiovascular disease atherosclerosis atrial fibrillation blindness breast cancer breast carcinoma bulimia nervosa cancer cardiovascular system disease cataract cerebral degeneration cerebral infarction cerebral palsy cerebrovascular disease childhood medulloblastoma chondrosarcoma choreaacanthocytosis colitis conduct disorder congenital hypothyroidism congenital nongoitrous hypothyroidism 1 congenital nongoitrous hypothyroidism 2 congenital nongoitrous hypothyroidism 3 congenital nongoitrous hypothyroidism 4 congenital nongoitrous hypothyroidism 5 congenital nongoitrous hypothyroidism 6 coronary artery disease cystic fibrosis diffuse large B-cell lymphoma embryoma enophthalmos familial hypobetalipoproteinemia 1 gastric ulcer gastroenteritis heart disease hemiplegia hepatocellular carcinoma human immunodeficiency virus infectious disease hypobetalipoproteinemia hypolipoproteinemia hypothyroidism ileitis ileocolitis infertility inflammatory bowel disease 1 inflammatory bowel disease liver cancer lymphoblastic lymphoma medulloblastoma medullomyoblastoma melanotic medulloblastoma myxedema nicotine dependence nutmeg liver obsessive-compulsive disorder obsolete exophthalmos orbital disease peripheral vascular disease progressive muscular atrophy prostate cancer prostate carcinoma schizophrenia sclerocornea senile cataract spastic diplegia spastic monoplegia spastic quadriplegic cerebral palsy synovitis systemic lupus erythematosus tenosynovitis thrombocytopenia ulcerative colitis
1962	enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase	EHHADH	D-bifunctional protein deficiency Fanconi renotubular syndrome 3 Fanconi syndrome Laron syndrome Zollinger-Ellison syndrome achondroplasia amyloidosis bipolar disorder cancer carnitine palmitoyltransferase II deficiency cystinosis cystinuria cytochrome-c oxidase deficiency disease familial hyperinsulinemic hypoglycemia 1 familial hyperinsulinemic hypoglycemia 2 galactosemia gallbladder 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 hepatocellular carcinoma hyperinsulinemic hypoglycemia hyperinsulinism liver cancer liver disease mitochondrial trifunctional protein deficiency osteomalacia prostate cancer prostate carcinoma proteinuria rickets spondyloepimetaphyseal dysplasia, Sponastrime type substance abuse substance-related disorder tuberculosis
64834	ELOVL fatty acid elongase 1	ELOVL1 Ssc1	Cauda equina syndrome acanthosis nigricans acrodermatitis adrenoleukodystrophy cancer dermatitis dry eye syndrome hyperglycemia neurogenic bladder obsolete asthenopia xerophthalmia
54898	ELOVL fatty acid elongase 2	ELOVL2 Ssc2	acute chest syndrome acute myocardial infarction autism spectrum disorder autistic disorder central nervous system cancer coronary artery disease coronary thrombosis giant cell glioblastoma glioblastoma gliosarcoma hepatocellular carcinoma high grade glioma liver cancer melanoma mixed glioma myocardial infarction papillary adenocarcinoma papillary renal cell carcinoma silent myocardial infarction skin melanoma steatotic liver disease thyroid gland papillary carcinoma
83401	ELOVL fatty acid elongase 3	ELOVL3 CIG-30	amnestic disorder atopic dermatitis dermatitis diabetes mellitus diabetic ketoacidosis ichthyosis prostate cancer prostate carcinoma retrograde amnesia type 2 diabetes mellitus
6785	ELOVL fatty acid elongase 4	ELOVL4 CT118 cancer/testis antigen 118	Kuhnt-Junius degeneration Leber congenital amaurosis Sjogren-Larsson syndrome Stargardt disease achromatopsia acquired color blindness acquired hyperkeratosis acute myocardial infarction age related macular degeneration alternating hemiplegia of childhood angioedema anhidrosis autonomic neuropathy autosomal dominant cerebellar ataxia autosomal recessive congenital ichthyosis 1 autosomal recessive congenital ichthyosis blindness blue color blindness cancer cardiac arrest central nervous system disease cerebellar ataxia cerebellar disease color blindness cone-rod dystrophy 2 cone-rod dystrophy 7 cone-rod dystrophy congenital nystagmus congenital stationary night blindness 1A congenital stationary night blindness corneal dystrophy coronary thrombosis degeneration of macula and posterior pole diabetes mellitus diabetic ketoacidosis dissociated nystagmus dry eye syndrome epilepsy erythrokeratodermia variabilis et progressiva 1 erythrokeratodermia variabilis eye disease fundus albipunctatus glycogen storage disease II granuloma annulare hepatocellular carcinoma hypertropia hypohidrosis ichthyosis inguinal hernia keratosis follicularis liver cancer locked-in syndrome macular degeneration mechanical strabismus mongolian spot myocardial infarction nervous system disease neurodegenerative disease night blindness obsolete congenital ichthyosiform erythroderma ophthalmoplegia pathologic nystagmus pseudoxanthoma elasticum quadriplegia red color blindness red-green color blindness retinitis pigmentosa 25 retinitis pigmentosa 30 retinitis pigmentosa silent myocardial infarction skin disease spinocerebellar ataxia type 34 spontaneous ocular nystagmus strabismus thrombocytopenia type 2 diabetes mellitus urticaria visual epilepsy xerophthalmia
60481	ELOVL fatty acid elongase 5	ELOVL5 HELO1 dJ483K16.1	acute myocardial infarction autosomal dominant cerebellar ataxia cancer cardiac arrest cerebellar ataxia cerebellar disease colon cancer colonic benign neoplasm colorectal cancer colorectal carcinoma congenital nystagmus coronary thrombosis depressive disorder diabetes mellitus diabetic ketoacidosis dissociated nystagmus embryoma glaucoma glomerulonephritis hyperglycemia kidney disease large intestine cancer low tension glaucoma major depressive disorder melancholic depression myocardial infarction nephritis nephrosis obesity obsolete melancholia pathologic nystagmus primary open angle glaucoma prostate cancer prostate carcinoma pyoureter retinitis pigmentosa 25 schizophrenia silent myocardial infarction spinocerebellar ataxia type 1 spinocerebellar ataxia type 2 spinocerebellar ataxia type 38 spinocerebellar ataxia type 5 spinocerebellar ataxia type 6 spinocerebellar ataxia type 7 spontaneous ocular nystagmus steatotic liver disease type 2 diabetes mellitus
79071	ELOVL fatty acid elongase 6	ELOVL6 FLJ23378 LCE MGC5487	Fanconi anemia complementation group A Fanconi anemia Zollinger-Ellison syndrome accommodative esotropia acrodermatitis acute myeloid leukemia acute myocardial infarction allergic contact dermatitis amnestic disorder arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis atopic dermatitis azoospermia bronchus cancer bronchus carcinoma cancer cone-rod dystrophy congestive heart failure coronary artery disease coronary thrombosis dermatitis diabetes mellitus disease of metabolism dissociative amnesia fundus albipunctatus hepatocellular carcinoma hyperinsulinism idiopathic interstitial pneumonia idiopathic pulmonary fibrosis liver cancer liver carcinoma lung benign neoplasm lung cancer lung carcinoma myocardial infarction nodular prostate obesity parapsoriasis postinflammatory pulmonary fibrosis prostatic adenoma psoriasis psoriatic arthritis pulmonary fibrosis pustulosis of palm and sole retinitis pigmentosa silent myocardial infarction steatotic liver disease type 2 diabetes mellitus
79993	ELOVL fatty acid elongase 7	ELOVL7 FLJ23563	Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease adrenoleukodystrophy cancer hidradenitis suppurativa hidradenitis inflammatory bowel disease multiple system atrophy pompholyx prostate cancer prostate carcinoma
64772	endo-beta-N-acetylglucosaminidase	ENGASE Di-N-acetylchitobiosyl beta-N-acetylglucosaminidase FLJ21865 Mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase	NGLY1-deficiency breast cancer breast carcinoma rheumatoid arthritis
2023	enolase 1	ENO1 MBP-1 PPH alpha-enolase	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 Behcet's disease Burkitt lymphoma Creutzfeldt-Jakob disease Duchenne muscular dystrophy EEC syndrome Fanconi anemia IgG4-related disease Lyme disease Pick's disease Reye syndrome Richter's syndrome acquired immunodeficiency syndrome acrodysostosis acute intermittent porphyria acute interstitial pneumonia acute myocardial infarction adenocarcinoma adenoma allergic asthma anemia anxiety disorder aphthous stomatitis arthritis arthropathy asthma atopic dermatitis autoimmune disease autoimmune lymphoproliferative syndrome autoimmune pancreatitis 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 bacterial infectious disease bile duct adenocarcinoma bile duct carcinoma bladder carcinoma blood coagulation disease brain stem infarction breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer candidiasis carcinoma cardiovascular system disease central nervous system cancer cerebral artery occlusion cerebral degeneration cerebral infarction cerebrovascular disease cholangiocarcinoma cholera chromophobe renal cell carcinoma chronic kidney disease chronic lymphocytic leukemia clear cell renal cell carcinoma collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma common wart congenital heart disease congenital muscular dystrophy corneal disease coronary thrombosis cribriform carcinoma dermatitis diabetes mellitus diabetic ketoacidosis dilated cardiomyopathy 1A dilated cardiomyopathy distal arthrogryposis distal myopathy ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 embryoma endocarditis endometrial cancer endometrial carcinoma endometriosis of uterus endometriosis esophageal cancer esophageal carcinoma essential hypertension exanthem eye disease facioscapulohumeral muscular dystrophy familial retinoblastoma fibromyalgia gastric adenocarcinoma generalized anxiety disorder giant cell glioblastoma glioblastoma gliosarcoma glomerulonephritis granular cell carcinoma head and neck cancer head and neck squamous cell carcinoma heart disease hemorrhoid hepatitis B hepatocellular carcinoma high grade glioma human immunodeficiency virus infectious disease hyperglycemia hypertension hypoglycemia idiopathic interstitial pneumonia immune system disease infective endocarditis inflammatory bowel disease 1 inflammatory bowel disease influenza intestinal volvulus intrahepatic cholangiocarcinoma intrinsic asthma invasive ductal carcinoma keratoconus kidney disease large intestine cancer leiomyoma limb-girdle muscular dystrophy liver cancer liver carcinoma liver cirrhosis lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung disease lung non-small cell carcinoma lung squamous cell carcinoma lupus nephritis macrocytic anemia male infertility membranous glomerulonephritis microphthalmia middle cerebral artery infarction mixed glioma multiple myeloma multiple sclerosis muscular dystrophy myocardial infarction myofibrillar myopathy 1 myofibrillar myopathy 3 myofibroma nasopharynx carcinoma nephritis nephrolithiasis nephrosis neuroblastoma nonpapillary renal cell carcinoma obsolete Matthew-Wood syndrome 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 obsolete inherited blood coagulation disease oculopharyngeal muscular dystrophy oral submucous fibrosis osteoarthritis osteoporosis pancreatic cancer pancreatic carcinoma pancreatic ductal adenocarcinoma papillary renal cell carcinoma patent ductus arteriosus perinatal necrotizing enterocolitis periodontitis phobic disorder primary pulmonary hypertension prostate cancer prostate carcinoma pulmonary hypertension pyoureter reflex sympathetic dystrophy renal carcinoma renal cell carcinoma retinoblastoma rheumatoid arthritis rippling muscle disease 2 sarcomatoid carcinoma sarcomatoid renal cell carcinoma silent myocardial infarction spondyloarthropathy spondylosis squamous cell carcinoma stomach cancer stomach carcinoma subacute bacterial endocarditis substance abuse substance-related disorder systemic lupus erythematosus tongue squamous cell carcinoma trilateral retinoblastoma tuberculosis tubular adenocarcinoma type 2 diabetes mellitus ulcerative colitis uric acid nephrolithiasis urinary bladder cancer uterine corpus cancer uterine fibroid vasculitis
2026	enolase 2	ENO2 NSE gamma-enolase neuron specific enolase neuronal enriched enolase	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 Creutzfeldt-Jakob disease Down syndrome Ewing sarcoma Gilbert syndrome Gilles de la Tourette syndrome Guillain-Barre syndrome Hirschsprung's disease IGSF1 deficiency syndrome Leber congenital amaurosis Leber hereditary optic neuropathy Lewy body dementia Lyme disease Miller Fisher syndrome Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Parkinsonism Pick's disease Rett syndrome Reye syndrome Sveinsson chorioretinal atrophy T-cell acute lymphoblastic leukemia abdominal obesity-metabolic syndrome 1 acoustic neuroma acute lymphoblastic leukemia acute myeloid leukemia acute myocardial infarction adenocarcinoma adenoma adenosarcoma adrenal carcinoma adrenal cortex cancer adrenocortical carcinoma adult T-cell leukemia/lymphoma adult acute lymphocytic leukemia adult lymphoma adult oligodendroglioma allergic asthma alternating hemiplegia of childhood angiomatous meningioma anorectal stricture aseptic meningitis asphyxia neonatorum asthma atrial fibrillation autism spectrum disorder autistic disorder autoimmune disease autoimmune lymphoproliferative syndrome autonomic neuropathy bacterial meningitis bacterial sepsis benign meningioma bilirubin metabolic disorder bladder carcinoma bladder urothelial carcinoma brain cancer brain disease brain ischemia brain stem infarction breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma cardiac arrest central nervous system disease central nervous system lymphoma cerebellar ataxia cerebellar disease cerebral artery occlusion cerebral convexity meningioma cerebral degeneration cerebral infarction cerebral primitive neuroectodermal tumor cerebrovascular disease childhood acute lymphocytic leukemia childhood leukemia childhood lymphoma childhood oligodendroglioma chromophobe renal cell carcinoma chronic tic disorder clear cell meningioma clear cell renal cell carcinoma collecting duct carcinoma complex partial epilepsy congenital heart disease congenital hypothyroidism congenital nongoitrous hypothyroidism 1 congenital nongoitrous hypothyroidism 2 congenital nongoitrous hypothyroidism 3 congenital nongoitrous hypothyroidism 4 congenital nongoitrous hypothyroidism 5 congenital nongoitrous hypothyroidism 6 congestive heart failure coronary thrombosis cribriform carcinoma depressive disorder diabetes mellitus diabetic autonomic neuropathy diabetic ketoacidosis diabetic neuropathy diabetic polyneuropathy diffuse large B-cell lymphoma embryoma encephalitis encephalomyelitis endometrial carcinoma epilepsy eye disease familial retinoblastoma fibrous meningioma focal epilepsy follicular adenoma giant cell glioblastoma glioblastoma glomerulonephritis glycogen storage disease IV glycogen storage disease VI glycogen storage disease VII granular cell carcinoma heroin dependence high grade glioma hyperglycemia hypertension hypoglycemia hypothyroidism immune system disease impotence intracranial hypertension intraorbital meningioma intraventricular meningioma intrinsic asthma kidney disease leukemia lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung disease lung non-small cell carcinoma lung oat cell carcinoma lung small cell carcinoma lymphoblastic lymphoma lymphoma major depressive disorder malaria malignant teratoma medulloblastoma medulloepithelioma melancholic depression melanoma meningioma meningoencephalitis meningothelial meningioma microcystic adenoma microcystic meningioma migraine without aura mixed oligodendroglioma-astrocytoma morphine dependence myelitis myeloproliferative disorder with eosinophilia myocardial infarction myxedema nephritis nephroblastoma nephrosis nervous system cancer nervous system disease neuroblastoma neurodegeneration with brain iron accumulation 5 neurodegenerative disease neuroectodermal tumor neuroendocrine carcinoma neuroendocrine tumor neurofibromatosis 1 neurofibromatosis neuropathy neurotic disorder nodular prostate nonpapillary renal cell carcinoma obesity obsolete embryonal Tumor with Multilayered Rosettes, C19MC-Altered obsolete melancholia obsolete type 1 diabetes mellitus 9 obsolete ymphosarcoma olfactory groove meningioma oligodendroglioma opiate dependence optic atrophy optic papillitis ossifying fibromyxoid tumor papillary adenoma papillary carcinoma papillary renal cell carcinoma papilledema paraganglioma parasagittal meningioma partial motor epilepsy peripheral nervous system disease pineal gland cancer pineoblastoma pituitary adenoma polyneuropathy premature ejaculation primary cutaneous amyloidosis proliferative diabetic retinopathy prostate cancer prostate carcinoma prostatic adenoma psammomatous meningioma pseudotumor cerebri psychologic dyspareunia pulmonary alveolar proteinosis pulmonary large cell neuroendocrine carcinoma pulmonary tuberculosis pyoureter renal carcinoma renal cell carcinoma retinal edema retinoblastoma rhabdomyosarcoma sarcomatoid carcinoma sarcomatoid renal cell carcinoma schizophrenia secondary Parkinson disease secretory meningioma silent myocardial infarction skin melanoma spinal meningioma squamous cell carcinoma squamous cell neoplasm steatotic liver disease subacute delirium supratentorial primitive neuroectodermal tumor synovial sarcoma temporal lobe epilepsy teratoma tic disorder tick-borne encephalitis tongue squamous cell carcinoma toxic shock syndrome transient tic disorder transitional meningioma trilateral retinoblastoma tuberculosis tuberculous pneumothorax 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 vascular disease viral meningitis visual epilepsy
2027	enolase 3	ENO3 beta-enolase muscle enriched enolase	aortic valve disease 2 aortic valve stenosis autoimmune disease autoimmune lymphoproliferative syndrome bronchus cancer bronchus carcinoma cystinuria disease of metabolism essential hypertension fibromyalgia galactosemia gallbladder 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 hypertension immune system disease isolated elevated serum creatine phosphokinase levels liver disease lung benign neoplasm lung cancer lung carcinoma myositis periodontitis pulmonary large cell neuroendocrine carcinoma steatotic liver disease
387712	enolase 4	ENO4 AC023283.3	male infertility
55556	enolase superfamily member 1	ENOSF1 FUCD HSRTSBETA L-fuconate dehydratase TYMSAS rTS	Down syndrome Hailey-Hailey disease Holt-Oram syndrome Klippel-Trenaunay syndrome Marfan syndrome Plasmodium falciparum malaria Rothmund-Thomson syndrome Rubinstein-Taybi syndrome VACTERL association Werner syndrome adult lymphoma arachnoiditis autosomal dominant cutis laxa 1 autosomal dominant cutis laxa 2 autosomal dominant cutis laxa 3 autosomal dominant cutis laxa autosomal recessive cutis laxa type IA autosomal recessive cutis laxa type IB autosomal recessive cutis laxa type II classic type autosomal recessive cutis laxa type IIA autosomal recessive cutis laxa type IIB autosomal recessive cutis laxa type IIC autosomal recessive cutis laxa type IID autosomal recessive cutis laxa type IIIA autosomal recessive cutis laxa type IIIB cancer central nervous system cancer central nervous system lymphoma cerebral malaria childhood leukemia childhood lymphoma colorectal cancer colorectal carcinoma congenital central hypoventilation syndrome cutaneous mastocytosis cutis laxa diffuse cutaneous mastocytosis embryoma endometrial cancer endometrial carcinoma exanthem gliosarcoma hepatitis B herpes zoster high grade glioma intellectual disability large intestine cancer learning disability leukemia lymphoma mal de Meleda malaria mastocytosis meningitis microphthalmia with limb anomalies mixed glioma mixed sleep apnea nail-patella syndrome obsolete ymphosarcoma obstructive sleep apnea ovarian cancer ovarian carcinoma poikiloderma with neutropenia progeria rabies restrictive dermopathy situs inversus sleep apnea split hand-foot malformation 1 with sensorineural hearing loss stomach cancer stomach carcinoma thrombocytopenia-absent radius syndrome tuberous sclerosis urticaria pigmentosa uterine corpus 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
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
133121	ectonucleotide pyrophosphatase/phosphodiesterase 6	ENPP6 MGC33971
339221	ectonucleotide pyrophosphatase/phosphodiesterase 7	ENPP7 NPP7 alk-SMase alkaline sphingomyelinase	adenocarcinoma adenoma arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis cancer colon cancer colon carcinoma colonic benign neoplasm colorectal cancer coronary artery disease cystic fibrosis familial adenomatous polyposis 1 familial adenomatous polyposis follicular adenoma islet cell tumor large intestine cancer microcystic adenoma papillary adenoma
285203	EGF domain specific O-linked N-acetylglucosamine transferase	EOGT AER61 AER61 glycosyltransferase FLJ33770	Adams-Oliver syndrome Clouston syndrome alopecia arteriovenous malformation autosomal recessive polycystic kidney disease cataract clubfoot communicating hydrocephalus epilepsy hydrocephalus hypertropia intellectual disability learning disability leukopenia mechanical strabismus microphthalmia obstructive hydrocephalus ophthalmoplegia periventricular leukomalacia polycystic kidney disease 4 portal hypertension primary pulmonary hypertension senile degeneration of brain strabismus tetralogy of Fallot thrombocytopenia visual epilepsy
2053	epoxide hydrolase 2	EPHX2 ABHD20 bifunctional epoxide hydrolase sEH soluble epoxide hydrolase	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 Crohn's colitis Crohn's disease IgA glomerulonephritis Langerhans-cell histiocytosis Lewy body dementia Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Pick's disease Reye syndrome Sertoli cell-only syndrome Y-linked spermatogenic failure 1 abdominal obesity-metabolic syndrome 1 acute chest syndrome acute kidney failure acute myocardial infarction adenocarcinoma adenoma adult respiratory distress syndrome anorexia nervosa arcus senilis arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis atrial fibrillation autism spectrum disorder autistic disorder blindness brain stem infarction bronchus cancer bronchus carcinoma cancer cardiovascular system disease cerebral artery occlusion cerebral degeneration cerebral infarction cerebrovascular disease cervical squamous cell carcinoma chronic kidney disease chronic obstructive pulmonary disease complement deficiency complex partial epilepsy congestive heart failure coronary artery disease coronary thrombosis cribriform carcinoma dementia depressive disorder diabetes mellitus embryoma essential hypertension exudative vitreoretinopathy 1 exudative vitreoretinopathy eyelid disease familial hypercholesterolemia gastrointestinal stromal tumor glomerulonephritis granular cell carcinoma heart disease hyperglycemia hypertension hypertrophic cardiomyopathy inflammatory bowel disease 1 inflammatory bowel disease kidney disease lobular neoplasia lung benign neoplasm lung cancer lung carcinoma lupus erythematosus lupus nephritis lymphoma major depressive disorder melancholic depression middle cerebral artery infarction myocardial infarction nephritis newborn respiratory distress syndrome non-Hodgkin lymphoma nutmeg liver obsolete melancholia obsolete ymphosarcoma oligospermia pancreatic cancer pancreatic carcinoma pneumonia primary pulmonary hypertension prostate cancer prostate carcinoma pulmonary emphysema pulmonary hypertension reticulosarcoma retinopathy of prematurity sarcoidosis schizophrenia sick sinus syndrome silent myocardial infarction sudden infant death syndrome systemic lupus erythematosus temporal lobe epilepsy tubular adenocarcinoma type 2 diabetes mellitus ulcerative colitis uveoparotid fever xanthomatosis
7957	EPM2A glucan phosphatase, laforin	EPM2A LD LDE	Alzheimer's disease Balo concentric sclerosis Dravet syndrome Lafora disease MERRF syndrome Rett syndrome Unverricht-Lundborg syndrome adrenoleukodystrophy adult lymphoma agnosia alexia apraxia benign epilepsy with centrotemporal spikes blepharospasm blindness cancer central nervous system disease central nervous system lymphoma cerebral degeneration childhood lymphoma cystinuria dementia dentatorubral-pallidoluysian atrophy depressive disorder dyslexia dysthymic disorder early myoclonic encephalopathy embryoma endometrial carcinoma epilepsy focal hand dystonia 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 intellectual disability learning disability lymphoma major depressive disorder melancholic depression narcolepsy neurodegenerative disease neuronal ceroid lipofuscinosis 10 neuronal ceroid lipofuscinosis 11 neuronal ceroid lipofuscinosis 13 neuronal ceroid lipofuscinosis 1 neuronal ceroid lipofuscinosis 2 neuronal ceroid lipofuscinosis 3 neuronal ceroid lipofuscinosis 4 neuronal ceroid lipofuscinosis 5 neuronal ceroid lipofuscinosis 6A neuronal ceroid lipofuscinosis 6B neuronal ceroid lipofuscinosis 7 neuronal ceroid lipofuscinosis 8 northern epilepsy variant neuronal ceroid lipofuscinosis 8 neuronal ceroid lipofuscinosis 9 neuronal ceroid lipofuscinosis neurotic disorder non-syndromic X-linked intellectual disability obsolete Dravet syndrome obsolete infantile epileptic encephalopathy obsolete melancholia obsolete ymphosarcoma photosensitive epilepsy photosensitivity disease progressive myoclonus epilepsy 1A progressive myoclonus epilepsy 4 progressive myoclonus epilepsy psychotic disorder schizoaffective disorder schizophrenia schizophreniform disorder status epilepticus
9852	EPM2A interacting protein 1	EPM2AIP1

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