GlyCosmos Portal

Homo sapiens (human)

Summary

Taxonomy ID: 9606
PubChem Taxonomy: 9606

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

Displaying entries **1051 - 1075** of **1582** in total

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Gene ID	Gene Name ▼	Gene Symbol	Disease Ontology
1119	choline kinase alpha	CHKA CKI	Duchenne muscular dystrophy T-cell acute lymphoblastic leukemia 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 basal cell carcinoma breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer central nervous system cancer colon adenoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma congenital muscular dystrophy distal myopathy embryoma epilepsy esophagus squamous cell carcinoma facioscapulohumeral muscular dystrophy gliosarcoma hematologic cancer hepatitis B hepatocellular carcinoma high grade glioma large intestine cancer limb-girdle muscular dystrophy liver cancer lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma megaconial type congenital muscular dystrophy microcephaly microphthalmia mixed glioma muscular dystrophy myelomeningocele myofibrillar myopathy 1 myofibrillar myopathy 3 neuroblastoma 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 oculopharyngeal muscular dystrophy ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma pancreatic ductal adenocarcinoma prostate cancer prostate carcinoma rippling muscle disease 2 spina bifida squamous cell carcinoma steatotic liver disease tethered spinal cord syndrome tongue squamous cell carcinoma transient cerebral ischemia vertebrobasilar insufficiency
1103	choline O-acetyltransferase	CHAT	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 3 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease Balo concentric sclerosis Down syndrome Gilles de la Tourette syndrome Huntington's disease-like 1 Huntington's disease-like 2 Huntington's disease Lambert-Eaton myasthenic syndrome Marfan syndrome Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Pick's disease Rett syndrome Reye syndrome X-linked adrenal hypoplasia congenita acute myocardial infarction adrenoleukodystrophy agnosia allergic asthma amnestic disorder amyloidosis angle-closure glaucoma arthritis arthropathy aspiration pneumonia aspiration pneumonitis asthma atrial fibrillation autism spectrum disorder autistic disorder beriberi bronchus cancer bronchus carcinoma bulbar polio cancer cannabis abuse cannabis dependence central nervous system disease central sleep apnea centronuclear myopathy cerebral degeneration cerebral infarction cerebrovascular disease chronic closed-angle glaucoma chronic fatigue syndrome clubfoot colon cancer colon carcinoma colonic benign neoplasm colorectal cancer congenital myasthenic syndrome 21 congenital myasthenic syndrome 6 congenital myasthenic syndrome congenital nystagmus congenital ptosis congenital structural myopathy coronary thrombosis critical illness polyneuropathy dementia depressive disorder developmental coordination disorder diabetes mellitus diabetic ketoacidosis differentiating neuroblastoma disease of mental health dissociated nystagmus dry beriberi dysthymic disorder encephalitis encephalomyelitis epilepsy esophagitis esotropia focal epilepsy gastroesophageal reflux disease gastroparesis giant cell glioblastoma glioblastoma hypertropia hypoglycemia idiopathic interstitial pneumonia intellectual disability intrinsic asthma kernicterus due to isoimmunization kernicterus lactic acidosis large intestine cancer learning disability lung benign neoplasm lung cancer lung carcinoma lymphocytic choriomeningitis major depressive disorder mechanical strabismus melancholic depression middle cerebral artery infarction monocular esotropia mucopolysaccharidosis III mucopolysaccharidosis type IIIA multiple sclerosis myelitis myocardial infarction narcolepsy nervous system disease neuroblastoma neurodegenerative disease neuromuscular disease neurotic disorder nicotine dependence obsolete constipation obsolete melancholia obsolete type 1 diabetes mellitus 9 obstructive sleep apnea olivopontocerebellar atrophy ophthalmoplegia osteoarthritis partial motor epilepsy pathologic nystagmus pellagra peptic esophagitis poliomyelitis polyhydramnios polyneuropathy postinflammatory pulmonary fibrosis primary angle-closure glaucoma progressive bulbar palsy psychotic disorder ptosis pulmonary fibrosis red-green color blindness retinal disease retinitis retrograde amnesia rheumatoid arthritis schizophrenia scoliosis secondary Parkinson disease sensorineural hearing loss silent myocardial infarction situs inversus spontaneous ocular nystagmus stereotypic movement disorder strabismus sudden infant death syndrome tendinitis thiamine deficiency disease 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 vascular dementia visual epilepsy
9023	cholesterol 25-hydroxylase	CH25H	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 Balo concentric sclerosis Marfan syndrome Pick's disease Reye syndrome Zika fever adrenoleukodystrophy arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy atherosclerosis bacterial infectious disease central nervous system disease cerebral degeneration childhood leukemia chronic fatigue syndrome chronic obstructive pulmonary disease colitis coronary artery disease encephalitis encephalomyelitis familial hypercholesterolemia gastroenteritis giant cell glioblastoma glioblastoma hepatitis C high grade glioma ileitis ileocolitis leukemia melanoma microcephaly multiple sclerosis myelitis narcolepsy nervous system disease neuromyelitis optica osteoarthritis plasmacytoma polycythemia vera polycythemia pulmonary emphysema rabies situs inversus skin melanoma tuberous sclerosis type 2 diabetes mellitus
1486	chitobiase	CTBS di-N-acetylchitobiase	Clouston syndrome allergic rhinitis amyotrophic lateral sclerosis arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis cancer cholera colon cancer colon carcinoma colonic benign neoplasm colorectal cancer hepatocellular carcinoma inflammatory bowel disease 1 inflammatory bowel disease large intestine cancer liver cancer progressive muscular atrophy prostate cancer prostate carcinoma ulcerative colitis vasomotor rhinitis
66005	chitinase domain containing 1	CHID1 FLJ42707 MGC3234 SI-CLP stabilin-1 interacting chitinase-like protein	bronchitis rheumatoid arthritis
27159	chitinase acidic	CHIA AMCase CHIT2 TSA1902 acidic mammalian chitinase	Sjogren's syndrome allergic asthma allergic conjunctivitis allergic rhinitis asthma cryptococcosis dry eye syndrome eosinophilic esophagitis giant papillary conjunctivitis intrinsic asthma keratoconjunctivitis sicca silicosis sinusitis vasomotor rhinitis vernal conjunctivitis xerophthalmia
1117	chitinase 3 like 2	CHI3L2 YKL-39 YKL39	amyotrophic lateral sclerosis arthritis arthropathy breast cancer cancer chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma osteoarthritis papillary renal cell carcinoma progressive muscular atrophy renal carcinoma renal cell carcinoma sarcomatoid renal cell carcinoma
1116	chitinase 3 like 1	CHI3L1 GP39 YK-40 YKL40 cartilage glycoprotein-39	Alexander disease 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 3 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease B-cell lymphoma CD40 ligand deficiency Creutzfeldt-Jakob disease Crohn's colitis Crohn's disease Gaucher's disease Goodpasture syndrome Grn-related frontotemporal lobar degeneration with Tdp43 inclusions Hantavirus hemorrhagic fever with renal syndrome Hermansky-Pudlak syndrome Hodgkin's granuloma Hodgkin's lymphoma, lymphocytic depletion Hodgkin's lymphoma, lymphocytic-histiocytic predominance Hodgkin's lymphoma, mixed cellularity Hodgkin's lymphoma Huntington's disease-like 1 Huntington's disease-like 2 Huntington's disease Kawasaki disease Kuhnt-Junius degeneration Lafora disease Lewy body dementia Loeffler syndrome Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Pick's disease Plasmodium falciparum malaria Reye syndrome Takayasu's arteritis X-linked hyper IgM syndrome acne acquired immunodeficiency syndrome acrodermatitis actinic keratosis acute chest syndrome acute disseminated encephalomyelitis acute interstitial pneumonia acute kidney tubular necrosis acute lymphoblastic leukemia acute myeloid leukemia acute myocardial infarction adenocarcinoma adenoma adrenoleukodystrophy adult acute lymphocytic leukemia adult oligodendroglioma age related macular degeneration agnosia alcoholic liver cirrhosis allergic asthma allergic rhinitis alternating hemiplegia of childhood amnestic disorder amyloidosis amyotrophic lateral sclerosis type 1 amyotrophic lateral sclerosis anaplastic astrocytoma androgen insensitivity syndrome anemia anthracosilicosis arachnoiditis arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy asbestosis asthma atherosclerosis atopic dermatitis atrial fibrillation autoimmune disease autoimmune lymphoproliferative syndrome autonomic neuropathy bacterial infectious disease bacterial meningitis bacterial pneumonia bacterial sepsis benign ependymoma bipolar disorder bladder urothelial carcinoma blind loop syndrome bone disease bone marrow cancer bone osteosarcoma brain infarction breast cancer breast carcinoma bronchiolitis obliterans bronchitis bronchopulmonary dysplasia bronchus cancer bronchus carcinoma byssinosis cancer cardiovascular system disease carotid artery disease cartilage disease cataract 32 multiple types cellular ependymoma central nervous system cancer central nervous system disease cerebral cavernous malformation 1 cerebral degeneration cerebral infarction cerebral malaria cerebrovascular disease cervical adenocarcinoma cervical cancer cervix carcinoma childhood acute lymphocytic leukemia childhood cerebral astrocytoma childhood leukemia childhood oligodendroglioma childhood osteosarcoma childhood type dermatomyositis chondrosarcoma chromophobe renal cell carcinoma chronic ethmoiditis chronic kidney disease chronic obstructive pulmonary disease chronic sphenoidal sinusitis clear cell renal cell carcinoma colitis collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma complement deficiency congestive heart failure connective tissue disease coronary artery disease coronary thrombosis craniosynostosis cribriform carcinoma cystic fibrosis degeneration of macula and posterior pole dementia depressive disorder dermatitis dermatomyositis diabetes mellitus diabetic ketoacidosis diabetic macular edema dilated cardiomyopathy 1A dilated cardiomyopathy disease of mental health distal arthrogryposis embryoma encephalitis encephalomyelitis endometrial cancer endometrial carcinoma eosinophilic pneumonia epilepsy esophagus squamous cell carcinoma essential hypertension essential thrombocythemia exfoliation syndrome extrinsic allergic alveolitis farmer's lung fatal familial insomnia fibrillary astrocytoma follicular adenoma frontotemporal dementia gallbladder disease gastroenteritis gastrointestinal system cancer gemistocytic astrocytoma giant cell glioblastoma glioblastoma gliosarcoma glomerulonephritis glucose intolerance granular cell carcinoma granulomatosis with polyangiitis heart disease hematologic cancer hepatitis B hepatitis C hepatitis hepatocellular carcinoma hidradenitis suppurativa hidradenitis high grade glioma human immunodeficiency virus infectious disease hyper IgM syndrome hypertension idiopathic interstitial pneumonia idiopathic pulmonary fibrosis ileitis ileocolitis immune system disease immunodeficiency with hyper IgM type 3 inflammatory and toxic neuropathy inflammatory bowel disease 1 inflammatory bowel disease intermediate coronary syndrome intermittent claudication interstitial lung disease intrahepatic cholestasis of pregnancy intrinsic asthma invasive ductal carcinoma juvenile pilocytic astrocytoma keratitis keratoconjunctivitis kidney disease large intestine cancer lichen planus liver cancer liver carcinoma liver cirrhosis liver disease lung benign neoplasm lung cancer lung carcinoma lung disease lung non-small cell carcinoma lung small cell carcinoma macrocytic anemia macular degeneration major depressive disorder malaria malignant astrocytoma melancholic depression melanoma meningitis microcystic adenoma middle cerebral artery infarction mitral valve stenosis mixed glioma mixed oligodendroglioma-astrocytoma multiple myeloma multiple sclerosis myelitis myelofibrosis myeloproliferative neoplasm myocardial infarction myositis myotonic dystrophy type 1 myotonic dystrophy type 2 myxopapillary ependymoma nephritis nephrosis nervous system disease neurodegenerative disease neurogenic arthropathy nonpapillary renal cell carcinoma nutmeg liver obesity obsolete melancholia obsolete ymphosarcoma obstructive sleep apnea oligodendroglioma oophoritis osteoarthritis osteoblastoma osteomyelitis osteosarcoma ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma papillary adenocarcinoma papillary adenoma papillary ependymoma papillary renal cell carcinoma parametritis parapsoriasis pelvic inflammatory disease peripheral artery disease peripheral vascular disease pilocytic astrocytoma plasmacytoma pneumonia polyarteritis nodosa polycythemia vera polycythemia pompholyx portal vein thrombosis post-vaccinal encephalitis postinflammatory pulmonary fibrosis pre-eclampsia prediabetes syndrome primary cutaneous T-cell non-Hodgkin lymphoma primary pulmonary hypertension prion disease progressive muscular atrophy progressive supranuclear palsy prostate cancer prostate carcinoma protoplasmic astrocytoma psoriasis psychotic disorder pulmonary alveolar proteinosis pulmonary emphysema pulmonary eosinophilia pulmonary fibrosis pulmonary sarcoidosis pustulosis of palm and sole pyosalpinx pyoureter rectal benign neoplasm rectum adenocarcinoma rectum cancer relapsing-remitting multiple sclerosis renal carcinoma renal cell carcinoma respiratory syncytial virus infectious disease retinal detachment retinal disease retinitis retrograde amnesia rheumatoid arthritis salpingitis sarcoidosis sarcomatoid renal cell carcinoma schizoaffective disorder schizophrenia schizophreniform disorder scleroderma scoliosis seborrheic keratosis sepiapterin reductase deficiency sick sinus syndrome silent myocardial infarction skin disease skin melanoma small cell carcinoma speech-language disorder-1 squamous cell carcinoma stomach cancer stomach carcinoma subependymal giant cell astrocytoma systemic scleroderma tanycytic ependymoma tauopathy temporal arteritis thrombophilia thyroid gland papillary carcinoma tongue squamous cell carcinoma transitional cell carcinoma tubular adenocarcinoma type 1 diabetes mellitus type 2 diabetes mellitus ulcerative colitis uterine corpus cancer uveoparotid fever vascular dementia vascular disease vasomotor rhinitis viral pneumonia
1118	chitinase 1	CHIT1 CHI3 CHIT chitotriosidase	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 Bloch-Sulzberger syndrome Creutzfeldt-Jakob disease Fabry disease GM1 gangliosidosis type 1 GM1 gangliosidosis Gaucher's disease type I Gaucher's disease type II Gaucher's disease type III Gaucher's disease Grn-related frontotemporal lobar degeneration with Tdp43 inclusions Krabbe disease Niemann-Pick disease type A Niemann-Pick disease type B Niemann-Pick disease type C1 Niemann-Pick disease Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Pick's disease Plasmodium falciparum malaria Reye syndrome Wolman disease acute myeloid leukemia adrenoleukodystrophy alkaptonuria allergic asthma allergic rhinitis amyloidosis amyotrophic lateral sclerosis ancylostomiasis arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease ascariasis ascaridiasis aspartylglucosaminuria asthma atherosclerosis bacterial sepsis beta thalassemia bone marrow cancer breast cancer breast carcinoma cancer carotid artery thrombosis carotid stenosis cerebral degeneration cerebral infarction cerebrovascular disease childhood type dermatomyositis cholestasis chronic obstructive pulmonary disease chylomicron retention disease colorectal cancer colorectal carcinoma common variable immunodeficiency complement deficiency coronary artery disease cryptococcosis cystic fibrosis dementia dermatomyositis diabetes mellitus diabetic ketoacidosis embryoma essential thrombocythemia eumycotic mycetoma familial combined hyperlipidemia familial mediterranean fever filariasis follicular lymphoma frontotemporal dementia fucosidosis gastritis glomerulonephritis glycoproteinosis hepatitis C hypomelanosis of Ito idiopathic interstitial pneumonia interstitial lung disease intrinsic asthma juvenile rheumatoid arthritis kidney disease large intestine cancer lipid storage disease liver cirrhosis lung disease lysosomal acid lipase deficiency lysosomal storage disease malaria mevalonic aciduria multiple sclerosis myelofibrosis myeloproliferative neoplasm nephritis nephrosis neurodegenerative disease neuropathy nodal marginal zone lymphoma nutmeg liver obesity obstructive sleep apnea ochronosis osteoarthritis peripheral nervous system disease plasmacytoma polycythemia vera polycythemia polyneuropathy postinflammatory pulmonary fibrosis progressive muscular atrophy prostate cancer prostate carcinoma prostatic adenoma pulmonary fibrosis pyoureter sarcoidosis sialuria sickle cell anemia sphingolipidosis steatotic liver disease thalassemia tuberculosis type 2 diabetes mellitus uveoparotid fever vascular dementia vasomotor rhinitis
51148	cerebral endothelial cell adhesion molecule	CERCAM
80772	ceramide-1-phosphate transfer protein	CPTP MGC10334	acute pancreatitis pancreatitis
253782	ceramide synthase 6	CERS6	Kawasaki disease Kennedy's disease T-cell acute lymphoblastic leukemia acute lymphoblastic leukemia adult acute lymphocytic leukemia alcoholic hepatitis alcoholic liver cirrhosis breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer childhood acute lymphocytic leukemia chronic fatigue syndrome colitis colorectal cancer colorectal carcinoma diabetes mellitus disease of metabolism embryoma encephalitis encephalomyelitis gastroenteritis glucose intolerance head and neck squamous cell carcinoma hematologic cancer idiopathic scoliosis ileitis ileocolitis large intestine cancer liver cirrhosis lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma melanoma mitochondrial metabolism disease mitochondrial myopathy multiple sclerosis myelitis obesity prediabetes syndrome skin melanoma squamous cell carcinoma steatotic liver disease stomach cancer stomach carcinoma substance abuse substance-related disorder tongue squamous cell carcinoma type 2 diabetes mellitus
91012	ceramide synthase 5	CERS5 FLJ25304 MGC45411 Trh4	cancer colon cancer colonic benign neoplasm colorectal cancer congestive heart failure embryoma essential hypertension hypertension large intestine cancer rectal benign neoplasm rectum adenocarcinoma rectum cancer
79603	ceramide synthase 4	CERS4 FLJ12089 Trh1	atopic dermatitis breast cancer breast carcinoma cancer chronic kidney disease colon cancer colonic benign neoplasm colorectal cancer colorectal carcinoma dermatitis embryoma hepatocellular carcinoma large intestine cancer liver cancer liver carcinoma rectal benign neoplasm rectum adenocarcinoma rectum cancer
204219	ceramide synthase 3	CERS3 MGC27091	Laron syndrome Sjogren-Larsson syndrome Weill-Marchesani syndrome achondroplasia acrodermatitis alopecia anhidrosis atopic dermatitis autosomal recessive congenital ichthyosis 10 autosomal recessive congenital ichthyosis 1 autosomal recessive congenital ichthyosis 2 autosomal recessive congenital ichthyosis 3 autosomal recessive congenital ichthyosis 4A autosomal recessive congenital ichthyosis 5 autosomal recessive congenital ichthyosis 6 autosomal recessive congenital ichthyosis 7 autosomal recessive congenital ichthyosis 8 autosomal recessive congenital ichthyosis 9 autosomal recessive congenital ichthyosis dermatitis ectropion hypohidrosis ichthyosis keratitis keratoconjunctivitis keratosis follicularis mongolian spot nonepidermolytic palmoplantar keratoderma obsolete congenital ichthyosiform erythroderma palmoplantar keratosis pseudoxanthoma elasticum sensorineural hearing loss
29956	ceramide synthase 2	CERS2 FLJ10243 SP260	bladder carcinoma breast cancer breast carcinoma cancer carcinoma cardiovascular system disease chronic fatigue syndrome chronic kidney disease colitis diabetes mellitus diabetic ketoacidosis embryoma encephalitis encephalomyelitis gastroenteritis giant cell glioblastoma glioblastoma heart disease high grade glioma hyperglycemia ileitis ileocolitis inflammatory bowel disease melanoma multiple sclerosis myelitis papillary adenocarcinoma papillary renal cell carcinoma primary cutaneous amyloidosis prostate cancer prostate carcinoma sarcomatoid carcinoma sciatic neuropathy skin melanoma steatotic liver disease thyroid gland papillary carcinoma type 2 diabetes mellitus urinary bladder cancer
10715	ceramide synthase 1	CERS1 LAG1 UOG1	Alzheimer's disease Crohn's colitis Crohn's disease Huntington's disease-like 1 Huntington's disease-like 2 Huntington's disease Japanese encephalitis Unverricht-Lundborg syndrome arteriosclerotic cardiovascular disease atherosclerosis blepharospasm cancer central nervous system cancer congestive heart failure coronary artery disease dementia dengue disease dentatorubral-pallidoluysian atrophy double outlet right ventricle early myoclonic encephalopathy embryoma focal hand dystonia gliosarcoma hand, foot and mouth disease head and neck squamous cell carcinoma high grade glioma inflammatory bowel disease 1 inflammatory bowel disease intellectual disability learning disability malaria mixed glioma multiple types of congenital heart defects 6 neuroblastoma papillary adenocarcinoma papillary renal cell carcinoma primary spontaneous pneumothorax progressive myoclonus epilepsy 4 progressive myoclonus epilepsy 8 progressive myoclonus epilepsy steatotic liver disease tetralogy of Fallot thyroid gland papillary carcinoma ulcerative colitis viral infectious disease visceral heterotaxy visual epilepsy yellow fever
64781	ceramide kinase	CERK DKFZp434E0211 FLJ21430 FLJ23239 KIAA1646 LK4 dA59H18.2 dA59H18.3 hCERK	Kaposi's sarcoma breast cancer breast carcinoma cancer colitis gastroenteritis ileitis ileocolitis microphthalmia neuroblastoma obesity obsolete Matthew-Wood syndrome schizophrenia 10 schizophrenia
57214	cell migration inducing hyaluronidase 1	CEMIP HYBID IR2155535 TMEM2L hyaluronan-binding protein involved in hyaluronan depolymerization	acute myeloid leukemia adenocarcinoma adenoma arthritis arthropathy breast cancer breast carcinoma cancer chromophobe renal cell carcinoma chronic fatigue syndrome clear cell renal cell carcinoma collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma common wart cribriform carcinoma embryoma encephalitis encephalomyelitis familial adenomatous polyposis 2 familial retinoblastoma follicular adenoma granular cell carcinoma hepatocellular carcinoma idiopathic interstitial pneumonia idiopathic pulmonary fibrosis large intestine cancer liver cancer lung cancer lung non-small cell carcinoma microcystic adenoma microphthalmia multiple sclerosis myelitis nonpapillary renal cell carcinoma obsolete Matthew-Wood syndrome osteoarthritis ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma pancreatic ductal adenocarcinoma papillary adenocarcinoma papillary adenoma papillary renal cell carcinoma pneumonia prostate cancer prostate carcinoma renal carcinoma renal cell carcinoma retinoblastoma rheumatoid arthritis sarcomatoid renal cell carcinoma stomach cancer stomach carcinoma thyroid gland papillary carcinoma trilateral retinoblastoma tubular adenocarcinoma
5476	cathepsin A	CTSA carboxypeptidase C carboxypeptidase Y-like kininase carboxypeptidase-L deamidase lysosomal carboxypeptidase A lysosomal protective protein urinary kininase	CADASIL 1 CADASIL Fabry disease GM1 gangliosidosis type 1 GM1 gangliosidosis Laron syndrome abdominal aortic aneurysm achondroplasia acquired immunodeficiency syndrome adult-onset leukoencephalopathy with axonal spheroids and pigmented glia allergic asthma aortic aneurysm aortic valve disease 2 aortic valve stenosis aspartylglucosaminuria asthma bone giant cell tumor cancer cavernous hemangioma chorioangioma chylomicron retention disease colitis colorectal cancer colorectal carcinoma corneal dystrophy embryoma epilepsy essential hypertension fucosidosis galactosialidosis gastroenteritis genital herpes glomus tumor glycoproteinosis hemangioma herpes simplex histiocytoid hemangioma human immunodeficiency virus infectious disease hyperglycemia hypertension idiopathic interstitial pneumonia idiopathic pulmonary fibrosis ileitis ileocolitis inflammatory breast carcinoma intellectual disability intramuscular hemangioma intrinsic asthma invasive ductal carcinoma kidney failure large intestine cancer learning disability lipid storage disease lung adenocarcinoma lung cancer lymphangioma lysosomal storage disease mucopolysaccharidosis I mucopolysaccharidosis II mucopolysaccharidosis III mucopolysaccharidosis IV mucopolysaccharidosis Ih mucopolysaccharidosis VI mucopolysaccharidosis type IVB mucopolysaccharidosis multiple epiphyseal dysplasia oophoritis osteochondrodysplasia parametritis pelvic inflammatory disease pneumonia pyosalpinx recurrent corneal erosion salpingitis sensorineural hearing loss shigellosis steatotic liver disease uremia visual epilepsy
1312	catechol-O-methyltransferase	COMT	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 Balo concentric sclerosis Clostridium difficile colitis Cockayne syndrome DiGeorge syndrome Dowling-Degos disease Down syndrome Gilles de la Tourette syndrome Graves' disease Hirschsprung's disease Horner's syndrome Huntington's disease-like 1 Huntington's disease-like 2 Huntington's disease Kleine-Levin syndrome Langerhans-cell histiocytosis Laron syndrome Lewy body dementia Lynch syndrome Meckel syndrome Meier-Gorlin syndrome 1 Meier-Gorlin syndrome Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Parkinsonism Pick's disease Reye syndrome Wernicke-Korsakoff syndrome Wolfram syndrome 1 Wolfram syndrome abdominal obesity-metabolic syndrome 1 achondroplasia acne acquired immunodeficiency syndrome acrodermatitis acute myocardial infarction adenocarcinoma adenoma adrenal gland cancer adrenoleukodystrophy adult lymphoma agnosia alcohol dependence alcohol use disorder alexia allergic asthma alternating hemiplegia of childhood amnestic disorder amphetamine abuse androgen insensitivity syndrome anencephaly anorexia nervosa antisocial personality disorder anxiety disorder arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy asthma atherosclerosis 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 attention deficit hyperactivity disorder autism spectrum disorder autistic disorder autonomic neuropathy autosomal dominant polycystic kidney disease avoidant personality disorder bipolar disorder bladder carcinoma borderline personality disorder breast cancer breast carcinoma breast fibrocystic disease bronchus cancer bronchus carcinoma bulimia nervosa bullous congenital ichthyosiform erythroderma cancer cannabis abuse cannabis dependence cardiovascular system disease carpal tunnel syndrome cataract central nervous system disease central nervous system lymphoma central nervous system origin vertigo central sleep apnea cerebral degeneration cerebral infarction cerebrovascular disease cervical adenocarcinoma cervical cancer cervix carcinoma childhood disintegrative disease childhood kidney cell carcinoma childhood lymphoma choanal atresia cholecystolithiasis choledocholithiasis cholelithiasis chromophobe renal cell carcinoma chromosome 17p13.1 deletion syndrome chronic fatigue syndrome chronic kidney disease chronic obstructive pulmonary disease clear cell renal cell carcinoma cleft palate clubfoot cocaine abuse cocaine dependence cognitive disorder collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma communicating hydrocephalus conduct disorder congenital diarrhea 5 with tufting enteropathy congenital hypothyroidism congenital ptosis conversion disorder corneal neovascularization coronary artery disease coronary thrombosis craniosynostosis cribriform carcinoma critical illness polyneuropathy cryptorchidism degenerative disc disease delusional disorder dementia dental caries dental fluorosis dentin caries depressive disorder desquamative interstitial pneumonia diabetes mellitus diabetic ketoacidosis diarrhea disease of mental health dissociative disorder distal myopathy double outlet right ventricle drug dependence drug psychosis duodenum cancer dyslexia dysthymic disorder dystonia eating disorder eclampsia embryoma encephalitis encephalomyelitis endometrial cancer endometrial carcinoma endometrial hyperplasia endometriosis of uterus endometriosis epilepsy episodic kinesigenic dyskinesia 1 episodic kinesigenic dyskinesia 2 esophagitis esophagus squamous cell carcinoma essential hypertension eumycotic mycetoma female breast carcinoma fibrodysplasia ossificans progressiva fibromyalgia gallbladder disease gastroesophageal reflux disease generalized anxiety disorder glaucoma glucose intolerance granular cell carcinoma head and neck squamous cell carcinoma heart cancer heart disease hepatitis C hepatocellular carcinoma heroin dependence herpes simplex holoprosencephaly 1 holoprosencephaly human immunodeficiency virus infectious disease hydrocephalus hypercalcemia hypertension hypertensive encephalopathy hyperthyroidism hypertropia hypoparathyroidism hypospadias hypothyroidism imperforate anus impulse control disorder inappropriate ADH syndrome inflammatory and toxic neuropathy inguinal hernia intellectual disability intermittent explosive disorder intrinsic asthma irritable bowel syndrome isolated cleft palate kidney cancer kleptomania large intestine cancer late onset Parkinson's disease lateral meningocele syndrome learning disability leiomyoma lingual-facial-buccal dyskinesia lissencephaly liver cancer liver carcinoma liver disease lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lymphoma major depressive disorder male infertility mechanical strabismus melancholic depression meningoencephalitis microcephaly microglandular adenosis microphthalmia migraine without aura migraine mitral valve stenosis mood disorder morphine dependence multiple sclerosis myelitis myelomeningocele myeloproliferative disorder with eosinophilia myocardial infarction myofibroma myositis ossificans myositis myxedema narcissistic personality disorder narcolepsy neonatal abstinence syndrome nephrocalcinosis nervous system disease neuroblastoma neurocirculatory asthenia neurodegenerative disease neuropathy neurotic disorder nicotine dependence nodular prostate non-Hodgkin lymphoma nutmeg liver obesity obsessive-compulsive disorder obsessive-compulsive personality disorder obsolete T-cell lymphoblastic leukemia/lymphoma obsolete constipation obsolete dyspepsia obsolete major affective disorder 1 obsolete major affective disorder 2 obsolete melancholia obsolete ymphosarcoma obstructive hydrocephalus obstructive sleep apnea omphalocele ophthalmoplegia opiate dependence optic atrophy osteoarthritis osteochondritis dissecans osteoporosis otitis media ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma panic disorder papillary renal cell carcinoma paranoid schizophrenia parapsoriasis patent ductus arteriosus patent foramen ovale pathological gambling peptic esophagitis peripheral nervous system disease pheochromocytoma phobic disorder phosphorus metabolism disease placental insufficiency polycystic ovary syndrome polyhydramnios polyneuropathy post-traumatic stress disorder pre-eclampsia prediabetes syndrome premature ejaculation premature menopause primary immunodeficiency disease primary ovarian insufficiency progressive pseudorheumatoid arthropathy of childhood prostate cancer prostate carcinoma prostatic adenoma pseudohypoparathyroidism psoriasis psychotic disorder ptosis purpura pustulosis of palm and sole rectal benign neoplasm rectum adenocarcinoma rectum cancer recurrent hypersomnia renal carcinoma renal cell carcinoma renal hypoplasia reticulate acropigmentation of Kitamura reticulosarcoma retrograde amnesia rumination disorder sarcomatoid renal cell carcinoma schizoaffective disorder schizophrenia schizophreniform disorder schizotypal personality disorder scoliosis seasonal affective disorder seborrheic dermatitis seborrheic infantile dermatitis seborrheic keratosis secondary Parkinson disease senile degeneration of brain sickle cell anemia silent myocardial infarction small intestine cancer social phobia somatization disorder somatoform disorder spina bifida sporadic breast cancer squamous cell carcinoma stomach cancer stomach carcinoma strabismus subacute delirium substance abuse substance-related disorder systemic lupus erythematosus tethered spinal cord syndrome tetralogy of Fallot thrombocytopenia thrombophilia thyrotoxicosis tibial muscular dystrophy tongue squamous cell carcinoma transient myeloproliferative syndrome tricuspid atresia tubular adenocarcinoma type 2 diabetes mellitus umbilical hernia uremia urinary bladder cancer urinary system benign neoplasm urinary system cancer uterine corpus cancer uterine fibroid varicose veins velocardiofacial syndrome ventricular septal defect vesicoureteral reflux visual epilepsy vitiligo withdrawal disorder xeroderma pigmentosum group A xeroderma pigmentosum group B xeroderma pigmentosum group C xeroderma pigmentosum group D xeroderma pigmentosum group E xeroderma pigmentosum group F xeroderma pigmentosum group G xeroderma pigmentosum variant type xeroderma pigmentosum
847	catalase	CAT	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 B-cell lymphoma Barrett's esophagus Behcet's disease Bloom syndrome Burkitt lymphoma Carney complex 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 Cockayne syndrome Cornelia de Lange syndrome Creutzfeldt-Jakob disease Crimean-Congo hemorrhagic fever Down syndrome Dubowitz syndrome Fanconi anemia complementation group A Fanconi anemia Friedreich ataxia 1 Friedreich ataxia Graves ophthalmopathy Graves' disease Grn-related frontotemporal lobar degeneration with Tdp43 inclusions Hailey-Hailey disease Hantavirus hemorrhagic fever with renal syndrome Huntington's disease-like 1 Huntington's disease-like 2 Huntington's disease Japanese encephalitis Kawasaki disease Langerhans-cell histiocytosis Leber hereditary optic neuropathy Marfan syndrome Meesmann corneal dystrophy Miles-Carpenter 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 Pick's disease Prader-Willi syndrome Raynaud disease Refsum disease Rett syndrome Reye syndrome Robinow syndrome Rothmund-Thomson syndrome Scheie syndrome Seckel syndrome Silver-Russell syndrome St. Louis encephalitis Sveinsson chorioretinal atrophy T-cell acute lymphoblastic leukemia Turner syndrome WAGR syndrome Werner syndrome Wernicke-Korsakoff syndrome Wilson disease Wolman disease X-linked Aarskog syndrome X-linked chronic granulomatous disease Zellweger syndrome Zika fever abdominal aortic aneurysm abdominal obesity-metabolic syndrome 1 acatalasia acne acoustic neuroma acquired hyperkeratosis acrodermatitis actinic keratosis actinomycosis acute cholangitis acute intermittent porphyria acute lymphoblastic leukemia acute myeloid leukemia acute myocardial infarction acute pancreatitis adenocarcinoma adenoma adenosarcoma adrenal gland cancer adult T-cell leukemia/lymphoma adult acute lymphocytic leukemia adult lymphoma adult respiratory distress syndrome age related macular degeneration agenesis of the corpus callosum with peripheral neuropathy aggressive systemic mastocytosis agnosia alcohol dependence alcohol use disorder alcoholic liver cirrhosis allergic asthma allergic bronchopulmonary aspergillosis allergic rhinitis alpha 1-antitrypsin deficiency amnestic disorder amyloidosis amyotrophic lateral sclerosis type 1 amyotrophic lateral sclerosis type 2 amyotrophic lateral sclerosis type 4 amyotrophic lateral sclerosis anaplastic astrocytoma anemia angioedema angle-closure glaucoma animal phobia aniridia ankylosing spondylitis anterior horn cell disease anterolateral myocardial infarction anteroseptal myocardial infarction anthracosilicosis anthracosis antisocial personality disorder anxiety disorder aortic aneurysm aortic disease aortic valve insufficiency aphthous stomatitis arachnoiditis arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy asbestosis ascariasis ascaridiasis aspergillosis asphyxia neonatorum aspiration pneumonia aspiration pneumonitis asthma ataxia telangiectasia 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 autism spectrum disorder autistic disorder autoimmune disease autoimmune hepatitis autoimmune lymphoproliferative syndrome autosomal dominant Robinow syndrome 1 autosomal dominant Robinow syndrome 2 autosomal dominant Robinow syndrome 3 autosomal dominant cerebellar ataxia autosomal dominant cutis laxa 1 autosomal dominant cutis laxa 2 autosomal dominant cutis laxa 3 autosomal dominant cutis laxa 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 distal hereditary motor neuronopathy 1 azoospermia background diabetic retinopathy bacterial infectious disease bacterial pneumonia bacterial sepsis basal cell carcinoma benign mesothelioma bestrophinopathy beta thalassemia bile duct adenocarcinoma bile duct carcinoma bipolar disorder black piedra bladder carcinoma blood coagulation disease bone marrow cancer bone osteosarcoma brain cancer brain disease brain infarction brain ischemia brain stem infarction breast adenocarcinoma breast cancer breast carcinoma bronchopulmonary dysplasia bronchus cancer bronchus carcinoma byssinosis cancer carbamoyl phosphate synthetase I deficiency disease carcinoma cardiac arrest cardiomyopathy cardiovascular system disease cartilage-hair hypoplasia cataract cellular schwannoma central nervous system cancer central nervous system lymphoma central sleep apnea cerebellar ataxia cerebellar disease cerebral artery occlusion cerebral degeneration cerebral infarction cerebral malaria cerebral palsy cerebrovascular disease cervical adenocarcinoma cervical cancer cervix carcinoma cervix disease cervix uteri carcinoma in situ childhood acute lymphocytic leukemia childhood cerebral astrocytoma childhood lymphoma childhood osteosarcoma cholangiocarcinoma cholecystolithiasis choledocholithiasis cholelithiasis cholestasis chondrodysplasia-pseudohermaphroditism syndrome choriocarcinoma choroid plexus papilloma chromophobe renal cell carcinoma chronic closed-angle glaucoma chronic fatigue syndrome chronic granulomatous disease chronic kidney disease chronic myeloid leukemia chronic obstructive pulmonary disease chronic purulent otitis media chronic venous insufficiency clear cell renal cell carcinoma cleft palate coccidioidomycosis colitis collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma complement deficiency congenital hemolytic anemia congenital hypothyroidism congestive heart failure corneal disease coronary artery disease coronary thrombosis cribriform carcinoma critical illness polyneuropathy cutaneous anthrax cutaneous leishmaniasis cutis laxa cystic fibrosis cystitis cystoid macular edema deficiency anemia degeneration of macula and posterior pole delusional disorder dengue disease denture stomatitis depressive disorder dermatitis developmental coordination disorder diabetes mellitus diabetic angiopathy diabetic autonomic neuropathy diabetic cataract diabetic ketoacidosis diabetic neuropathy diabetic polyneuropathy diabetic retinopathy diffuse large B-cell lymphoma diffuse scleroderma dilated cardiomyopathy 1A dilated cardiomyopathy disease of metabolism distal arthrogryposis duodenum cancer duodenum disease dysthymic disorder embryoma encephalitis encephalomyelitis end stage renal disease endometrial cancer endometrial carcinoma endometriosis of uterus endometriosis endometritis endomyocardial fibrosis eosinophilia-myalgia syndrome epidermolysis bullosa dystrophica epilepsy erysipelas erythrasma esophageal disease essential hypertension extramedullary plasmacytoma exudative vitreoretinopathy 1 exudative vitreoretinopathy familial hyperlipidemia familial mediterranean fever familial periodic paralysis favism female stress incontinence fibrillary astrocytoma fibromyalgia focal epilepsy fragile X syndrome gallbladder cancer gallbladder carcinoma gastric adenocarcinoma gastric ulcer gastritis gastroenteritis gastrointestinal system disease gemistocytic astrocytoma generalized anxiety disorder gestational diabetes giant cell glioblastoma glioblastoma gliosarcoma glomerulonephritis glucocorticoid-remediable aldosteronism glucose intolerance goiter gonadal dysgenesis gonadoblastoma gonorrhea granular cell carcinoma granular corneal dystrophy 2 head and neck squamous cell carcinoma heart cancer heart disease hemiplegia hemochromatosis hemolytic-uremic syndrome hemopericardium hepatitis A hepatitis B hepatitis C hepatitis hepatoblastoma hepatocellular carcinoma hereditary elliptocytosis hereditary neuropathy with liability to pressure palsies hereditary sensory and autonomic neuropathy type 5 hereditary spherocytosis type 1 hereditary spherocytosis herpes simplex high grade glioma histoplasmosis holoprosencephaly 1 holoprosencephaly homocystinuria hyperglycemia hyperhomocysteinemia hypertension hyperthyroidism hypertrophic cardiomyopathy hyperuricemia hypochromic anemia hypothalamic disease hypothyroidism idiopathic interstitial pneumonia ileitis ileocolitis immune system disease inclusion body myositis infantile Refsum disease inflammatory and toxic neuropathy inflammatory bowel disease 1 inflammatory bowel disease insulinoma intellectual disability interstitial nephritis intestinal disease intrahepatic cholangiocarcinoma intraocular lymphoma intrinsic asthma iron metabolism disease irritable bowel syndrome isolated cleft palate juvenile pilocytic astrocytoma juvenile rheumatoid arthritis keratitis keratoacanthoma keratoconjunctivitis keratoconus keratosis kernicterus due to isoimmunization kernicterus kidney cancer kidney disease kidney failure kidney hypertrophy kwashiorkor large intestine cancer laryngeal benign neoplasm laryngeal carcinoma laryngeal squamous cell carcinoma larynx cancer late onset Parkinson's disease lateral sclerosis learning disability lesion of sciatic nerve leukopenia lichen disease lichen planus lipid storage disease listeriosis liver cancer liver cirrhosis localized scleroderma lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung disease lung non-small cell carcinoma lupus erythematosus lymphoma lysosomal acid lipase deficiency macrocytic anemia macular corneal dystrophy macular degeneration macular retinal edema major depressive disorder mal de Meleda malaria male infertility malignant astrocytoma malignant mesothelioma marasmus mast-cell sarcoma melancholic depression melanoma melanotic neurilemmoma meningioma meningitis meningoencephalitis microcephalic osteodysplastic primordial dwarfism type I microcephalic osteodysplastic primordial dwarfism type II microcephaly microcytic anemia middle cerebral artery infarction migraine with aura migraine without aura mitral valve stenosis mixed glioma mixed oligodendroglioma-astrocytoma mood disorder motor neuron disease motor peripheral neuropathy mucopolysaccharidosis I mucopolysaccharidosis II mucopolysaccharidosis III mucopolysaccharidosis IV mucopolysaccharidosis Ih mucopolysaccharidosis VI mucopolysaccharidosis mucosulfatidosis multiple myeloma multiple sclerosis myelitis myelofibrosis myeloproliferative neoplasm myocardial infarction myocardial stunning myopathy myotonic dystrophy type 1 myxedema neonatal jaundice neovascular inflammatory vitreoretinopathy nephritis nephroblastoma nephrolithiasis nephrosis neurilemmoma neuroblastoma neurocirculatory asthenia neurodegenerative disease neurofibromatosis neuropathy neurotic disorder newborn respiratory distress syndrome nodular prostate non-Hodgkin lymphoma nonpapillary renal cell carcinoma nutmeg liver nutrition disease obesity obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum obsolete inherited blood coagulation disease obsolete melancholia obsolete type 1 diabetes mellitus 9 obsolete ymphosarcoma obstructive lung disease optic neuritis osteoarthritis osteoglophonic dysplasia osteonecrosis osteoporosis osteosarcoma otitis media ovarian cancer ovarian carcinoma pancreatic adenocarcinoma pancreatic cancer pancreatic carcinoma pancreatitis papillary renal cell carcinoma papilloma parapsoriasis parathyroid gland disease parietal foramina partial motor epilepsy patent foramen ovale pemphigus pericardial effusion pericarditis perinatal necrotizing enterocolitis periodontal disease periodontitis peripheral nervous system disease peroxisomal disease peroxisome biogenesis disorder 1A peroxisome biogenesis disorder 7A peroxisome biogenesis disorder 8A personality disorder phenylketonuria pheochromocytoma phobic disorder photosensitive trichothiodystrophy phototoxic dermatitis pilocytic astrocytoma pituitary adenoma pityriasis rubra pilaris placenta cancer placental insufficiency plasmacytoma plexiform schwannoma pneumoconiosis pneumonia polycystic ovary syndrome polycythemia vera polyneuropathy post-traumatic stress disorder postinflammatory pulmonary fibrosis prediabetes syndrome preretinal fibrosis primary angle-closure glaucoma primary open angle glaucoma proctitis progeria progressive multifocal leukoencephalopathy progressive muscular atrophy proliferative diabetic retinopathy prostate cancer prostate carcinoma prostate disease prostatic adenoma protein-energy malnutrition protoplasmic astrocytoma pseudoxanthoma elasticum psoriasis pterygium pulmonary edema pulmonary embolism pulmonary emphysema pulmonary fibrosis purpura pustulosis of palm and sole pyelitis pyelonephritis pyoureter recessive dystrophic epidermolysis bullosa renal artery disease renal carcinoma renal cell carcinoma restrictive dermopathy reticulosarcoma retinal disease retinitis pigmentosa retinitis retinopathy of prematurity retrograde amnesia rheumatoid arthritis sarcoidosis sarcomatoid carcinoma sarcomatoid renal cell carcinoma scabies schizophrenia sciatic neuropathy scleroderma sebaceous carcinoma seborrheic dermatitis senile cataract sensorineural hearing loss sick sinus syndrome sickle cell anemia silent myocardial infarction situs inversus skin atrophy skin benign neoplasm skin cancer skin melanoma small intestine cancer social phobia spastic diplegia spastic monoplegia spastic quadriplegic cerebral palsy specific phobia spinal muscular atrophy spinal stenosis spinocerebellar ataxia type 1 spinocerebellar ataxia type 2 spondylocarpotarsal synostosis syndrome sporotrichosis squamous cell carcinoma squamous cell papilloma status epilepticus steatotic liver disease stomach cancer stomach carcinoma stomach disease stomatitis subacute bacterial endocarditis subependymal giant cell astrocytoma superficial mycosis superior mesenteric artery syndrome suppurative otitis media sweat gland cancer systemic lupus erythematosus systemic scleroderma teratocarcinoma thrombocytopenia thrombophilia thymic carcinoma thymoma thyroid adenoma thyroid cancer thyroid gland anaplastic carcinoma thyroid gland carcinoma thyroid gland disease thyroid gland papillary carcinoma thyrotoxicosis tongue squamous cell carcinoma toxic encephalopathy transient cerebral ischemia trigonitis tuberculosis tuberous sclerosis tubular adenocarcinoma 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 ulcerative colitis ulcerative stomatitis urea cycle disorder uremia ureteral obstruction uric acid nephrolithiasis urinary bladder cancer urticaria uterine corpus cancer uveoparotid fever varicocele variegate porphyria vascular disease vasomotor rhinitis vertebrobasilar insufficiency vestibular schwannomatosis viral infectious disease visual epilepsy vitiligo white piedra xeroderma pigmentosum group A xeroderma pigmentosum group B xeroderma pigmentosum group C xeroderma pigmentosum group D xeroderma pigmentosum group E xeroderma pigmentosum group F xeroderma pigmentosum group G xeroderma pigmentosum variant type xeroderma pigmentosum yellow fever
1376	carnitine palmitoyltransferase 2	CPT2 CPTASE	Chanarin-Dorfman syndrome Meckel syndrome Pearson syndrome Reye syndrome X-linked dilated cardiomyopathy abdominal obesity-metabolic syndrome 1 acute myocardial infarction arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy atherosclerosis attention deficit hyperactivity disorder autosomal dominant polycystic kidney disease beta thalassemia brain disease brain edema breast cancer breast carcinoma cancer carcinoma cardiomyopathy carnitine palmitoyltransferase I deficiency carnitine palmitoyltransferase II deficiency cataract chronic fatigue syndrome chronic kidney disease clubfoot colorectal cancer colorectal carcinoma congestive heart failure coronary artery disease coronary thrombosis diabetes mellitus diabetic ketoacidosis dilated cardiomyopathy 1A 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 disease of metabolism embryoma encephalitis encephalomyelitis endomyocardial fibrosis epilepsy essential thrombocythemia familial hyperlipidemia familial periodic paralysis fibromyalgia glycogen storage disease II glycogen storage disease V hepatitis C hepatitis hepatocellular carcinoma hydrocephalus hydronephrosis hyperglycemia hypertrophic cardiomyopathy hypoglycemia influenza isolated elevated serum creatine phosphokinase levels kidney failure large intestine cancer lipid metabolism disorder liver cancer liver cirrhosis medium chain acyl-CoA dehydrogenase deficiency microcephaly mitochondrial metabolism disease mitochondrial myopathy mitochondrial trifunctional protein deficiency multiple acyl-CoA dehydrogenase deficiency muscular disease myelitis myelodysplastic syndrome myocardial infarction myoglobinuria myopathy myositis neurogenic arthropathy neuroleptic malignant syndrome obesity ovarian cancer pancytopenia placental insufficiency polycystic ovary syndrome primary pulmonary hypertension prostate cancer prostate carcinoma pseudosarcomatous fibromatosis psoriatic arthritis sarcomatoid carcinoma sick sinus syndrome silent myocardial infarction status epilepticus steatotic liver disease systemic primary carnitine deficiency disease thalassemia type 2 diabetes mellitus urea cycle disorder very long chain acyl-CoA dehydrogenase deficiency viral infectious disease visual epilepsy
126129	carnitine palmitoyltransferase 1C	CPT1C CATL1 CPT1P CPTIC FLJ23809	Henoch-Schoenlein purpura autoimmune disease autoimmune lymphoproliferative syndrome breast cancer breast carcinoma cancer congenital hypothyroidism embryoma giant cell glioblastoma glioblastoma hereditary spastic paraplegia 10 hereditary spastic paraplegia 73 high grade glioma hypersensitivity vasculitis hypoglycemia hypothyroidism immune system disease lung benign neoplasm melanoma multiple myeloma myxedema neuropathy obesity papillary adenocarcinoma papillary renal cell carcinoma paraplegia peripheral nervous system disease polyneuropathy skin melanoma steatotic liver disease thyroid gland papillary carcinoma
1375	carnitine palmitoyltransferase 1B	CPT1B CPT1-M M-CPT1 carnitine O-palmitoyltransferase 1B	Balo concentric sclerosis Down syndrome Pearson syndrome acute myocardial infarction adrenoleukodystrophy bladder carcinoma cancer central nervous system disease chronic recurrent multifocal osteomyelitis colitis congestive heart failure coronary thrombosis embryoma gastroenteritis hepatitis hepatocellular carcinoma ileitis ileocolitis liver cancer morbid obesity myocardial infarction narcolepsy post-traumatic stress disorder restless legs syndrome silent myocardial infarction steatotic liver disease systemic primary carnitine deficiency disease urinary bladder cancer very long chain acyl-CoA dehydrogenase deficiency

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