GlyCosmos Portal

Homo sapiens (human)

Summary

Taxonomy ID: 9606
PubChem Taxonomy: 9606

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

Displaying entries **951 - 975** of **1582** in total

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Gene ID	Gene Name ▼	Gene Symbol	Disease Ontology
8694	diacylglycerol O-acyltransferase 1	DGAT1 ARGP1	Chanarin-Dorfman syndrome alopecia amyotrophic lateral sclerosis arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis autosomal recessive congenital ichthyosis 1 cancer cardiomyopathy celiac disease chronic fatigue syndrome chronic kidney disease chylomicron retention disease congenital diarrhea 5 with tufting enteropathy congenital diarrhea 6 congenital diarrhea 7 with exudative enteropathy congenital malabsorptive diarrhea 4 congenital secretory sodium diarrhea 3 congenital secretory sodium diarrhea 8 congestive heart failure coronary artery disease diabetes mellitus diabetic ketoacidosis diarrhea disease of metabolism encephalitis encephalomyelitis familial hyperlipidemia familial lipoprotein lipase deficiency familial nephrotic syndrome familial periodic paralysis gastrointestinal system disease gestational diabetes glucose intolerance hepatitis C hyperlipoproteinemia type V ichthyosis intestinal disease keratosis follicularis kwashiorkor leech infestation lipid metabolism disorder lipoid nephrosis lupus erythematosus marasmus mastitis microvillus inclusion disease mongolian spot myelitis myiasis myopathy nephrotic syndrome nutrition disease obesity obsolete congenital ichthyosiform erythroderma phototoxic dermatitis prediabetes syndrome progressive muscular atrophy prostate cancer prostate carcinoma protein-energy malnutrition protein-losing enteropathy pseudoxanthoma elasticum steatotic liver disease systemic lupus erythematosus toxoplasmosis tropical sprue type 2 diabetes mellitus
92126	dermatan sulfate epimerase like	DSEL	colorectal cancer colorectal carcinoma congenital diaphragmatic hernia diabetes mellitus hiatus hernia large intestine cancer microphthalmia type 2 diabetes mellitus
29940	dermatan sulfate epimerase	DSE DS-Epi1 DSEPI	Ehlers-Danlos syndrome musculocontractural type 2 Ehlers-Danlos syndrome 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 breast cancer breast carcinoma cancer cardiovascular system disease cerebral degeneration clubfoot craniosynostosis diabetes mellitus diabetic ketoacidosis embryoma fibromyalgia gastroschisis heart disease hepatocellular carcinoma inguinal hernia liver cancer mitral valve insufficiency mitral valve prolapse myositis osteogenesis imperfecta patent foramen ovale postural orthostatic tachycardia syndrome type 2 diabetes mellitus
51071	deoxyribose-phosphate aldolase	DERA CGI-26 DEOC	breast cancer breast carcinoma dysplastic nevus syndrome glaucoma melanoma skin melanoma
123099	delta 4-desaturase, sphingolipid 2	DEGS2 DES2 FADS8 dihydroceramide desaturase 2 sphingolipid delta(4)-desaturase 2	acquired immunodeficiency syndrome colorectal cancer colorectal carcinoma diabetes mellitus diabetic ketoacidosis disease of mental health human immunodeficiency virus infectious disease large intestine cancer neurodegenerative disease obesity psychotic disorder schizophrenia type 2 diabetes mellitus
8560	delta 4-desaturase, sphingolipid 1	DEGS1 DEGS-1 DES1 Des-1 FADS7 MLD dihydroceramide desaturase 1 sphingolipid delta(4)-desaturase 1	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 Krabbe disease Pick's disease Reye syndrome acute intermittent porphyria acute interstitial pneumonia acute myocardial infarction alternating hemiplegia of childhood amyloidosis autonomic neuropathy autosomal dominant osteopetrosis 2 autosomal recessive osteopetrosis 7 cancer cardiovascular system disease central nervous system disease cerebral degeneration chronic fatigue syndrome colorectal cancer colorectal carcinoma congenital nystagmus coronary thrombosis critical illness polyneuropathy depressive disorder diabetes mellitus diabetic ketoacidosis disease of mental health dissociated nystagmus dysthymic disorder dystonia embryoma encephalitis encephalomyelitis epilepsy esophageal cancer esophageal carcinoma esophagitis essential hypertension gastroesophageal reflux disease giant cell glioblastoma glioblastoma heart disease high grade glioma hyperglycemia hypertension hyperthyroidism hypomyelinating leukodystrophy 18 hypomyelinating leukodystrophy idiopathic interstitial pneumonia inflammatory and toxic neuropathy kidney failure large intestine cancer leukodystrophy locked-in syndrome major depressive disorder melancholic depression meningoencephalitis metachromatic leukodystrophy myelitis myocardial infarction nervous system disease neurodegenerative disease neuropathy neurotic disorder obesity obsolete melancholia osteopetrosis osteosclerosis pathologic nystagmus peptic esophagitis peripheral nervous system disease pneumonia polyneuropathy prostate cancer prostate carcinoma psychotic disorder quadriplegia scoliosis silent myocardial infarction spontaneous ocular nystagmus substance abuse substance-related disorder thyrotoxicosis type 2 diabetes mellitus uremia visual epilepsy
79154	dehydrogenase/reductase 11	DHRS11 MGC4172 SDR24C1 short chain dehydrogenase/reductase family 24C, member 1	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 Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Pick's disease Reye syndrome adrenal gland cancer breast cancer breast carcinoma cancer cerebral degeneration choriocarcinoma colon adenocarcinoma colorectal cancer colorectal carcinoma disorder of sexual development duodenum cancer duodenum disease embryoma endometrial cancer endometrial carcinoma endometriosis of uterus endometriosis esophageal disease heart cancer hereditary breast ovarian cancer syndrome hermaphroditism hypogonadotropic hypogonadism 23 with or without anosmia hypospadias invasive ductal carcinoma large intestine cancer multiple sclerosis peroxisomal disease pheochromocytoma placenta cancer polycystic ovary syndrome prostate cancer prostate carcinoma pseudohermaphroditism small intestine cancer sporadic breast cancer steatotic liver disease stomach cancer stomach carcinoma stomach disease uterine corpus cancer
55526	dehydrogenase E1 and transketolase domain containing 1	DHTKD1	2-aminoadipic 2-oxoadipic aciduria Charcot-Marie-Tooth disease axonal type 2Q
79947	dehydrodolichyl diphosphate synthase subunit	DHDDS DS FLJ13102 HDS RP59 hCIT	Alzheimer's disease Cockayne syndrome Cornelia de Lange syndrome Crohn's colitis Crohn's disease Dubowitz syndrome Ehrlich tumor carcinoma Laron 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 Patau syndrome Prader-Willi syndrome Robinow syndrome Seckel syndrome Silver-Russell syndrome Unverricht-Lundborg syndrome Weissenbacher-Zweymuller syndrome X-linked Aarskog syndrome Zollinger-Ellison syndrome achondroplasia acute myeloid leukemia adenocarcinoma adenoma adult medulloblastoma adult oligodendroglioma agranulocytosis amyotrophic lateral sclerosis anodontia attention deficit hyperactivity disorder autosomal dominant Robinow syndrome 1 autosomal dominant Robinow syndrome 2 autosomal dominant Robinow syndrome 3 autosomal recessive Robinow syndrome bladder carcinoma blepharospasm blindness bone osteosarcoma brain stem glioma breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carnitine palmitoyltransferase II deficiency cataract central nervous system cancer central nervous system lymphoma cerebral degeneration cervical squamous cell carcinoma childhood medulloblastoma childhood oligodendroglioma chondrodysplasia-pseudohermaphroditism syndrome chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma cone-rod dystrophy congenital diaphragmatic hernia corneal disease cribriform carcinoma cryptorchidism decubitus ulcer dementia depressive disorder developmental delay and seizures with or without movement abnormalities diarrhea dysthymic disorder dystonia early myoclonic encephalopathy embryoma endometrial cancer endometrial carcinoma epilepsy esophagus squamous cell carcinoma focal hand dystonia fundus albipunctatus giant cell glioblastoma glaucoma glioblastoma gliosarcoma granular cell carcinoma hepatocellular carcinoma hiatus hernia high grade glioma hyperinsulinism hypoglycemia hypogonadism inflammatory bowel disease 1 inflammatory bowel disease islet cell tumor keratoconus kidney failure large intestine cancer leukopenia lingual-facial-buccal dyskinesia liver cancer liver cirrhosis lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lung small cell carcinoma lymphoma major depressive disorder medulloblastoma medullomyoblastoma melancholic depression melanotic medulloblastoma microcephalic osteodysplastic primordial dwarfism type I microcephalic osteodysplastic primordial dwarfism type II microcephaly mitochondrial metabolism disease mitochondrial myopathy mitochondrial trifunctional protein deficiency mixed glioma mixed oligodendroglioma-astrocytoma multiple myeloma neuroblastoma neurofibromatosis 1 neurofibromatosis neurotic disorder neutropenia obsolete infantile epileptic encephalopathy obsolete melancholia obsolete ymphosarcoma oligodendroglioma ophthalmoplegia osteosarcoma ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma pancreatic endocrine carcinoma papillary renal cell carcinoma pathological gambling progressive muscular atrophy prostate cancer prostate carcinoma psychotic disorder pyruvate carboxylase deficiency disease pyruvate decarboxylase deficiency rectal benign neoplasm rectum adenocarcinoma rectum cancer renal carcinoma renal cell carcinoma retinal degeneration retinitis pigmentosa 59 retinitis pigmentosa rippling muscle disease 2 sarcomatoid renal cell carcinoma schizoaffective disorder schizophrenia schizophreniform disorder severe congenital neutropenia squamous cell carcinoma squamous cell neoplasm status epilepticus steatotic liver disease stomach cancer stomach carcinoma subacute bacterial endocarditis substance abuse substance-related disorder thyroid gland medullary carcinoma tooth agenesis tubular adenocarcinoma ulcerative colitis urinary bladder cancer uterine corpus cancer varicocele visual epilepsy
1603	defender against cell death 1	DAD1	Barrett's esophagus allergic asthma asthma cancer embryoma intrinsic asthma lung small cell carcinoma neuroendocrine carcinoma neuroendocrine tumor
1634	decorin	DCN DSPG2 SLRR1B decorin proteoglycan	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 CADASIL 1 CADASIL Cockayne syndrome Cornelia de Lange syndrome Dubowitz syndrome Duchenne muscular dystrophy Ehlers-Danlos syndrome spondylodysplastic type 2 Ehlers-Danlos syndrome Hailey-Hailey disease IgA glomerulonephritis Kaposi's sarcoma Li-Fraumeni syndrome 1 Li-Fraumeni syndrome Lyme disease Marfan 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 Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Peyronie's disease Pick's disease Prader-Willi syndrome Reye syndrome Richter's syndrome Robinow syndrome Rothmund-Thomson syndrome SADDAN Seckel syndrome Silver-Russell syndrome Werner syndrome X-linked Aarskog syndrome abdominal aortic aneurysm achondrogenesis type IB achondroplasia actinic keratosis acute interstitial pneumonia acute myocardial infarction adult respiratory distress syndrome allergic asthma alopecia amyloidosis angiokeratoma angiosarcoma angle-closure glaucoma arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy asthma atherosclerosis atrophic gastritis autosomal dominant Emery-Dreifuss muscular dystrophy 2 autosomal dominant Robinow syndrome 1 autosomal dominant Robinow syndrome 2 autosomal dominant Robinow syndrome 3 autosomal dominant cutis laxa 1 autosomal dominant cutis laxa 2 autosomal dominant cutis laxa 3 autosomal dominant cutis laxa 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 dominant polycystic kidney disease autosomal recessive Robinow syndrome 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 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 balanitis xerotica obliterans basal cell carcinoma benign breast phyllodes tumor bladder carcinoma bladder neck obstruction bone disease bone giant cell tumor bone osteosarcoma brain cancer breast cancer breast carcinoma breast fibroadenoma breast fibrocystic disease breast malignant phyllodes tumor breast metaplastic carcinoma bronchus cancer bronchus carcinoma cancer carcinoma cardiomyopathy cardiovascular system disease cartilage disease central nervous system cancer cerebral degeneration cerebral infarction cerebrovascular disease cervical adenocarcinoma cervical cancer cervix carcinoma cherubism childhood angiosarcoma childhood osteosarcoma cholestasis chondrodysplasia-pseudohermaphroditism syndrome chondrosarcoma chromophobe renal cell carcinoma chronic closed-angle glaucoma chronic interstitial cystitis chronic lymphocytic leukemia chronic obstructive pulmonary disease chronic ulcer of skin clear cell renal cell carcinoma collagen disease collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma congenital diaphragmatic hernia congenital disorder of glycosylation congenital merosin-deficient muscular dystrophy 1A congenital muscular dystrophy congenital stromal corneal dystrophy congestive heart failure connective tissue disease cornea plana corneal neovascularization coronary artery disease coronary thrombosis crescentic glomerulonephritis cutis laxa cystic fibrosis diabetes mellitus diabetic ketoacidosis distal myopathy embryoma endometrial cancer endometrial carcinoma endometriosis of uterus endometriosis endomyocardial fibrosis epidermolysis bullosa dystrophica epithelioid malignant peripheral nerve sheath tumor epithelioid sarcoma esophageal cancer esophageal carcinoma essential hypertension exostosis facioscapulohumeral muscular dystrophy 1 facioscapulohumeral muscular dystrophy familial adenomatous polyposis familial periodic paralysis female stress incontinence gestational diabetes giant cell glioblastoma glioblastoma gliosarcoma glomerulonephritis glucose intolerance heart disease hepatocellular carcinoma hiatus hernia high grade glioma hyperglycemia hypertension hypertrophic cardiomyopathy hypochondroplasia idiopathic interstitial pneumonia idiopathic pulmonary fibrosis inclusion body myositis intellectual disability interstitial cystitis interstitial nephritis intestinal benign neoplasm intestinal cancer intrinsic asthma invasive ductal carcinoma kidney disease kidney failure kidney hypertrophy large intestine cancer laryngeal benign neoplasm laryngeal carcinoma laryngeal disease larynx cancer learning disability limb-girdle muscular dystrophy lipoma liver cancer liver carcinoma liver cirrhosis localized scleroderma lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung disease lung non-small cell carcinoma mal de Meleda malignant peripheral nerve sheath tumor mesangial proliferative glomerulonephritis microcephalic osteodysplastic primordial dwarfism type I microcephalic osteodysplastic primordial dwarfism type II microglandular adenosis mixed glioma multiple myeloma multiple sclerosis multiple symmetric lipomatosis muscular dystrophy myeloproliferative disorder with eosinophilia myocardial infarction myocarditis myofibrillar myopathy 1 myofibrillar myopathy 3 myopathy myopia myxofibrosarcoma neovascular inflammatory vitreoretinopathy nephritis nephrosclerosis nephrosis neurilemmoma neuroblastoma neurofibrosarcoma neurogenic arthropathy newborn respiratory distress syndrome nonpapillary renal cell carcinoma obesity 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 type 1 diabetes mellitus 9 oculopharyngeal muscular dystrophy ossification of the posterior longitudinal ligament of spine osteoarthritis osteochondrodysplasia osteogenesis imperfecta type 10 osteogenesis imperfecta type 11 osteogenesis imperfecta type 12 osteogenesis imperfecta type 13 osteogenesis imperfecta type 14 osteogenesis imperfecta type 15 osteogenesis imperfecta type 16 osteogenesis imperfecta type 17 osteogenesis imperfecta type 1 osteogenesis imperfecta type 2 osteogenesis imperfecta type 3 osteogenesis imperfecta type 4 osteogenesis imperfecta type 5 osteogenesis imperfecta type 6 osteogenesis imperfecta type 7 osteogenesis imperfecta type 8 osteogenesis imperfecta type 9 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures osteogenesis imperfecta osteosarcoma ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma papillary adenocarcinoma papillary renal cell carcinoma papilloma periarthritis placental insufficiency pleomorphic lipoma polycystic kidney disease 1 polycystic ovary syndrome posterior amorphous corneal dystrophy postinflammatory pulmonary fibrosis prediabetes syndrome primary angle-closure glaucoma primary open angle glaucoma primary pulmonary hypertension progeria prostate cancer prostate carcinoma proteinuria pseudoachondroplasia pseudosarcomatous fibromatosis pulmonary fibrosis pulmonary hypertension pyelitis pyelonephritis pyoureter rapidly progressive glomerulonephritis recessive dystrophic epidermolysis bullosa renal carcinoma renal cell carcinoma renal infectious disease restrictive dermopathy retinal disease retinitis rippling muscle disease 2 sarcoma sarcomatoid carcinoma sarcomatoid renal cell carcinoma scleroderma seborrheic keratosis silent myocardial infarction situs inversus skin atrophy skin disease spindle cell sarcoma squamous cell carcinoma squamous cell papilloma steatotic liver disease stomach cancer stomach carcinoma systemic scleroderma tendinitis thrombosis thyroid adenoma thyroid cancer thyroid gland carcinoma thyroid gland papillary carcinoma tongue squamous cell carcinoma tracheal disease transitional cell carcinoma tuberous sclerosis 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 urinary bladder cancer uterine corpus cancer vascular cancer vascular disease vulva carcinoma vulvar dystrophy
1635	dCMP deaminase	DCTD	breast cancer cancer esophagus squamous cell carcinoma gliosarcoma high grade glioma leukopenia mixed glioma pancreatic adenocarcinoma pancreatic cancer pancreatic carcinoma
606495	cytochrome b5 reductase like	CYB5RL LOC606495
51167	cytochrome b5 reductase 4	CYB5R4 b5+b5R dJ676J13.1	breast cancer diabetes mellitus diabetic ketoacidosis gestational diabetes glucose intolerance maturity-onset diabetes of the young prediabetes syndrome type 2 diabetes mellitus
1727	cytochrome b5 reductase 3	CYB5R3 B5R NADH-cytochrome b5 reductase 3	acquired polycythemia alternating hemiplegia of childhood autonomic neuropathy bladder urothelial carcinoma brain disease breast cancer breast carcinoma cancer central nervous system disease colon cancer colonic benign neoplasm colorectal cancer contagious pustular dermatitis cowpox dystonia embryoma epilepsy erythema infectiosum erythropoietin polycythemia esotropia essential hypertension estrogen-receptor negative breast cancer exanthema subitum familial erythrocytosis 2 familial hyperlipidemia hypertension hypertropia idiopathic scoliosis intellectual disability large intestine cancer learning disability lingual-facial-buccal dyskinesia locked-in syndrome maple syrup urine disease mechanical strabismus methemoglobinemia microcephaly milker's nodule monocular esotropia movement disease nervous system disease ophthalmoplegia placental insufficiency polycythemia vera polycythemia quadriplegia sickle cell anemia smallpox strabismus stress polycythemia sulfhemoglobinemia syndromic X-linked intellectual disability 94 tarsal-carpal coalition syndrome thyroid adenoma thyroid cancer thyroid gland carcinoma variola major variola minor visual epilepsy
51700	cytochrome b5 reductase 2	CYB5R2	cancer giant cell glioblastoma glioblastoma nasopharynx carcinoma prostate cancer prostate carcinoma
51706	cytochrome b5 reductase 1	CYB5R1 humb5R2	cancer colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma large intestine cancer
1582	cytochrome P450 family 8 subfamily B member 1	CYP8B1 CYP12	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 androgen insensitivity syndrome cerebral degeneration cholecystolithiasis choledocholithiasis cholelithiasis cholestasis diabetes mellitus diabetic ketoacidosis disease of metabolism extrahepatic cholestasis metabolic dysfunction-associated steatotic liver disease premature menopause steatotic liver disease type 2 diabetes mellitus
9420	cytochrome P450 family 7 subfamily B member 1	CYP7B1	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 Charcot-Marie-Tooth disease type 5 Henoch-Schoenlein purpura MASA syndrome Mast syndrome Pick's disease Reye syndrome SPOAN syndrome Troyer syndrome acquired immunodeficiency syndrome adenocarcinoma adenoma arthritis arthropathy autosomal recessive polycystic kidney disease blood coagulation disease breast cancer breast carcinoma cancer cataract cerebellar ataxia cerebellar disease cerebral degeneration cholestasis chronic obstructive pulmonary disease colitis colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma congenital bile acid synthesis defect 3 congenital bile acid synthesis defect congenital nystagmus cribriform carcinoma critical illness polyneuropathy depressive disorder diabetes mellitus diabetic ketoacidosis diarrhea disease of metabolism dissociated nystagmus embryoma gallbladder cancer gallbladder carcinoma gallbladder disease gastroenteritis granular cell carcinoma hepatitis hereditary spastic paraplegia 10 hereditary spastic paraplegia 11 hereditary spastic paraplegia 12 hereditary spastic paraplegia 13 hereditary spastic paraplegia 14 hereditary spastic paraplegia 15 hereditary spastic paraplegia 16 hereditary spastic paraplegia 17 hereditary spastic paraplegia 18 hereditary spastic paraplegia 19 hereditary spastic paraplegia 23 hereditary spastic paraplegia 24 hereditary spastic paraplegia 25 hereditary spastic paraplegia 26 hereditary spastic paraplegia 27 hereditary spastic paraplegia 28 hereditary spastic paraplegia 29 hereditary spastic paraplegia 2 hereditary spastic paraplegia 30 hereditary spastic paraplegia 31 hereditary spastic paraplegia 32 hereditary spastic paraplegia 34 hereditary spastic paraplegia 35 hereditary spastic paraplegia 36 hereditary spastic paraplegia 37 hereditary spastic paraplegia 38 hereditary spastic paraplegia 39 hereditary spastic paraplegia 3A hereditary spastic paraplegia 41 hereditary spastic paraplegia 42 hereditary spastic paraplegia 43 hereditary spastic paraplegia 44 hereditary spastic paraplegia 45 hereditary spastic paraplegia 46 hereditary spastic paraplegia 48 hereditary spastic paraplegia 49 hereditary spastic paraplegia 4 hereditary spastic paraplegia 53 hereditary spastic paraplegia 54 hereditary spastic paraplegia 55 hereditary spastic paraplegia 56 hereditary spastic paraplegia 57 hereditary spastic paraplegia 5A hereditary spastic paraplegia 61 hereditary spastic paraplegia 62 hereditary spastic paraplegia 63 hereditary spastic paraplegia 64 hereditary spastic paraplegia 6 hereditary spastic paraplegia 72A hereditary spastic paraplegia 73 hereditary spastic paraplegia 75 hereditary spastic paraplegia 77 hereditary spastic paraplegia 7 hereditary spastic paraplegia 8 hereditary spastic paraplegia 9A hereditary spastic paraplegia 9B hereditary spastic paraplegia hypersensitivity vasculitis ileitis ileocolitis inflammatory and toxic neuropathy inflammatory bowel disease 1 inflammatory bowel disease intrahepatic cholestasis kwashiorkor large intestine cancer lipid metabolism disorder liver disease luminal breast carcinoma A major depressive disorder marasmus melancholic depression meningoencephalitis multiple sclerosis neurodegenerative disease neuropathy nutrition disease obsolete inherited blood coagulation disease obsolete melancholia obsolete steatorrhea optic atrophy osteoarthritis paraplegia pathologic nystagmus peripheral nervous system disease polycystic kidney disease 4 polyneuropathy prostate adenocarcinoma prostate cancer prostate carcinoma protein-energy malnutrition rheumatoid arthritis scoliosis sensorineural hearing loss spontaneous ocular nystagmus steatotic liver disease tubular adenocarcinoma type 2 diabetes mellitus ulcerative colitis
1581	cytochrome P450 family 7 subfamily A member 1	CYP7A1 cholesterol 7 alpha-monooxygenase cholesterol 7α-hydroxylase	Aicardi-Goutieres syndrome Gerstmann-Straussler-Scheinker syndrome Gorham's disease Graves' disease acute monocytic leukemia acute myeloid leukemia acute myocardial infarction alcoholic hepatitis androgen insensitivity syndrome arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis biliary atresia cardiovascular system disease cholangiocarcinoma cholecystolithiasis choledocholithiasis cholelithiasis cholestasis colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma congenital bile acid synthesis defect 3 congenital bile acid synthesis defect coronary artery disease coronary thrombosis diabetes mellitus diabetic ketoacidosis diarrhea disease of metabolism essential hypertension extrahepatic cholestasis familial combined hyperlipidemia familial hypercholesterolemia familial hyperlipidemia gallbladder cancer gallbladder carcinoma gallbladder disease gestational diabetes heart disease hepatitis hepatoblastoma hepatocellular carcinoma homocystinuria hypertension hyperthyroidism intrahepatic cholangiocarcinoma kwashiorkor large intestine cancer liver cancer liver disease marasmus metabolic dysfunction-associated steatohepatitis multiple sclerosis myocardial infarction neuromyelitis optica nutmeg liver nutrition disease obesity obsolete type 1 diabetes mellitus 9 osteomalacia placental insufficiency premature menopause primary biliary cholangitis primary ovarian insufficiency protein-energy malnutrition rickets silent myocardial infarction steatotic liver disease thyrotoxicosis tuberculosis 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
1595	cytochrome P450 family 51 subfamily A member 1	CYP51A1 CP51 CYPL1 LDM P450-14DM P450L1	Alzheimer's disease Antley-Bixler syndrome with disordered steroidogenesis Bloch-Sulzberger syndrome Chagas disease Cryptococcal meningitis Fanconi syndrome Poland syndrome aspergillosis black piedra cancer candidiasis cataract classic galactosemia coccidioidomycosis cryptococcosis cystinosis dermatophytosis diabetes mellitus embryoma familial hyperlipidemia fungal infectious disease galactokinase deficiency galactosemia gallbladder disease hepatocellular carcinoma histoplasmosis hypomelanosis of Ito leishmaniasis liver cancer liver disease myotonic dystrophy type 2 oral candidiasis pancreatic cancer pancreatic carcinoma parasitic protozoa infectious disease polycystic ovary syndrome primary amebic meningoencephalitis prostate cancer seborrheic infantile dermatitis spondyloepimetaphyseal dysplasia, Sponastrime type sporotrichosis superficial mycosis trypanosomiasis tuberculosis visceral leishmaniasis white piedra
10858	cytochrome P450 family 46 subfamily A member 1	CYP46A1	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 Huntington's disease-like 1 Huntington's disease-like 2 Huntington's disease Lennox-Gastaut syndrome Pick's disease Reye syndrome abdominal obesity-metabolic syndrome 1 age related macular degeneration amyloidosis brain disease cancer cardiac arrest cerebral degeneration cerebrovascular disease chronic fatigue syndrome colorectal cancer colorectal carcinoma degeneration of macula and posterior pole depressive disorder diabetes mellitus dysthymic disorder encephalitis encephalomyelitis giant cell glioblastoma glioblastoma high grade glioma large intestine cancer macular degeneration major depressive disorder melancholic depression multiple sclerosis myelitis neurodegenerative disease neurotic disorder obsolete melancholia primary open angle glaucoma tauopathy type 2 diabetes mellitus
11283	cytochrome P450 family 4 subfamily F member 8	CYP4F8	colorectal adenocarcinoma hypertension prostate cancer prostate carcinoma
4051	cytochrome P450 family 4 subfamily F member 3	CYP4F3 CYP4F	Bartter disease 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 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 3 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 Clostridium difficile colitis Conn's syndrome Crohn's colitis Crohn's disease Meier-Gorlin syndrome 1 Meier-Gorlin syndrome Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Plasmodium vivax malaria Waterhouse-Friderichsen syndrome acoustic neuroma acquired immunodeficiency syndrome acute intermittent porphyria acute lymphoblastic leukemia acute myocardial infarction adrenal adenoma adrenal cortex cancer adrenal gland cancer adrenal gland hyperfunction adult acute lymphocytic leukemia agenesis of the corpus callosum with peripheral neuropathy alcohol use disorder allergic asthma anaplastic astrocytoma angiomatous meningioma asthma attention deficit hyperactivity disorder bacterial sepsis benign meningioma breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma cardiovascular system disease cerebral convexity meningioma cervical adenocarcinoma cervical cancer cervix carcinoma childhood acute lymphocytic leukemia childhood cerebral astrocytoma choriocarcinoma clear cell meningioma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma congenital adrenal hyperplasia congenital aphakia congestive heart failure coronary thrombosis cystinuria diabetes mellitus embryoma endometrial cancer endometrial carcinoma endometriosis of uterus endometriosis epilepsy essential hypertension fibrillary astrocytoma fibrous meningioma galactosemia gallbladder disease gastric cardia carcinoma gemistocytic astrocytoma glucosephosphate dehydrogenase deficiency glycogen storage disease Ia glycogen storage disease gout heart disease hepatitis C hepatoblastoma hepatocellular carcinoma hereditary neuropathy with liability to pressure palsies hereditary sensory and autonomic neuropathy type 1 hereditary sensory and autonomic neuropathy type 1A hereditary sensory neuropathy hidradenitis suppurativa hidradenitis high grade glioma human immunodeficiency virus infectious disease hypertension inflammatory bowel disease 1 inflammatory bowel disease intraorbital meningioma intraventricular meningioma intrinsic asthma irritable bowel syndrome juvenile pilocytic astrocytoma kidney cancer kidney failure large intestine cancer laryngeal squamous cell carcinoma leiomyoma lingual-facial-buccal dyskinesia liver cancer liver cirrhosis liver disease lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lymphoplasmacyte-rich meningioma malignant astrocytoma meningioma meningothelial meningioma microcystic meningioma motor peripheral neuropathy myocardial infarction myofibroma neurocirculatory asthenia obesity obsolete Cushing's syndrome obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum olfactory groove meningioma pancreatic ductal adenocarcinoma parasagittal meningioma patent ductus arteriosus pilocytic astrocytoma pituitary adenoma placenta cancer pompholyx primary hyperaldosteronism prostate cancer prostate carcinoma protoplasmic astrocytoma psammomatous meningioma sarcomatoid carcinoma schizophrenia secretory meningioma sensory peripheral neuropathy silent myocardial infarction spinal meningioma squamous cell carcinoma steatotic liver disease stomach cancer stomach carcinoma subependymal giant cell astrocytoma sudden infant death syndrome tongue squamous cell carcinoma transitional meningioma tuberculosis type 2 diabetes mellitus ulcerative colitis uterine corpus cancer uterine fibroid viral infectious disease visual epilepsy
8529	cytochrome P450 family 4 subfamily F member 2	CYP4F2	Crohn's colitis Crohn's disease abdominal obesity-metabolic syndrome 1 acute myocardial infarction adrenal carcinoma adrenal cortex cancer adrenocortical carcinoma adrenoleukodystrophy arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis atrial fibrillation brain stem infarction cancer cardiovascular system disease cerebral artery occlusion cerebral infarction cerebrovascular disease coronary artery disease coronary thrombosis embryoma essential hypertension heart disease hepatocellular carcinoma hypertension inflammatory bowel disease 1 inflammatory bowel disease liver cancer myocardial infarction nutmeg liver obesity pancreatic ductal adenocarcinoma patent ductus arteriosus silent myocardial infarction steatotic liver disease thrombophilia ulcerative colitis varicose veins vascular disease

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