GlyCosmos Portal

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UniProt ID	Protein Name	Gene Symbol	No. of Glycosylation Sites	No. of GlyTouCan IDs	Disease Ontology ▲
P04233	HLA class II histocompatibility antigen gamma chain	CD74 DHLAG	13	91	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 Pick's disease Reye syndrome Richter's syndrome acrodermatitis acute monocytic leukemia acute myeloid leukemia adenocarcinoma adenoma adult lymphoma alcoholic hepatitis amnestic disorder amyloidosis anaplastic astrocytoma ankylosing spondylitis arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy atherosclerosis autoimmune disease autoimmune hepatitis autoimmune lymphoproliferative syndrome bacterial sepsis basal cell carcinoma benign mesothelioma bladder carcinoma bone osteosarcoma brain cancer breast cancer breast carcinoma breast fibroadenoma bronchus cancer bronchus carcinoma cancer carcinoma cardiovascular system disease carotid artery thrombosis carotid stenosis central nervous system cancer central nervous system lymphoma cerebral degeneration cerebral infarction cerebrovascular disease chikungunya childhood cerebral astrocytoma childhood lymphoma chromophobe renal cell carcinoma chromosome 5q deletion syndrome chronic fatigue syndrome chronic lymphocytic leukemia chronic obstructive pulmonary disease classic pulmonary blastoma clear cell renal cell carcinoma collecting duct carcinoma cone-rod dystrophy coronary artery disease degenerative disc disease dengue hemorrhagic fever dermatitis diabetic cataract diabetic ketoacidosis diabetic retinopathy diffuse large B-cell lymphoma disease of metabolism embryoma encephalitis encephalomyelitis endometriosis of uterus endometriosis fibrillary astrocytoma follicular adenoma fundus albipunctatus gemistocytic astrocytoma giant cell glioblastoma glioblastoma gliosarcoma glomerulonephritis heart disease hematologic cancer hepatitis hepatocellular carcinoma high grade glioma immune system disease inflammatory bowel disease 1 inflammatory bowel disease juvenile pilocytic astrocytoma kidney cancer kidney disease lepromatous leprosy liver cancer liver cirrhosis lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lung small cell carcinoma lupus nephritis lymphoma malignant astrocytoma malignant fibrous histiocytoma malignant mesothelioma malignant pleural mesothelioma mantle cell lymphoma melanoma microcystic adenoma mixed glioma mucinous adenocarcinoma multiple myeloma multiple sclerosis myelitis myositis nephritis nonpapillary renal cell carcinoma obesity obsolete type 1 diabetes mellitus 9 obsolete ymphosarcoma osteosarcoma pancreatic cancer pancreatic carcinoma papillary adenocarcinoma papillary adenoma papillary renal cell carcinoma periodontitis pilocytic astrocytoma placental insufficiency pneumonia primary biliary cholangitis prostate cancer prostate carcinoma protoplasmic astrocytoma pulmonary emphysema red color blindness renal carcinoma renal cell carcinoma retinal disease retinitis pigmentosa retinitis retrograde amnesia rheumatoid arthritis sarcomatoid carcinoma sarcomatoid renal cell carcinoma sebaceous carcinoma skin melanoma spondyloarthropathy spondylosis squamous cell carcinoma stomach cancer stomach carcinoma subependymal giant cell astrocytoma sweat gland cancer systemic lupus erythematosus thymic carcinoma thymoma thyroid adenoma thyroid cancer thyroid gland carcinoma thyroid gland papillary carcinoma tongue squamous cell carcinoma transient cerebral ischemia transitional cell carcinoma 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 C thymoma ulcerative colitis urinary bladder cancer vertebrobasilar insufficiency viral infectious disease
P98160	Basement membrane-specific heparan sulfate proteoglycan core protein	HSPG2	85	182	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 Balkan nephropathy Bethlem myopathy Cockayne syndrome Cornelia de Lange syndrome Dubowitz syndrome Duchenne muscular dystrophy Ehlers-Danlos syndrome spondylodysplastic type 2 HELLP syndrome IgA glomerulonephritis Joubert syndrome Laron syndrome Miller-Dieker lissencephaly 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 Norum disease Ollier disease Peters anomaly Pick's disease Prader-Willi syndrome Reye syndrome Richter's syndrome Robinow syndrome Schwartz-Jampel syndrome 1 Seckel syndrome Silver-Russell syndrome Silverman-Handmaker type dyssegmental dysplasia Stevens-Johnson syndrome Tangier disease Werdnig-Hoffmann disease X-linked Aarskog syndrome X-linked spondyloepiphyseal dysplasia tarda abdominal obesity-metabolic syndrome 1 abetalipoproteinemia achondroplasia acute promyelocytic leukemia adenoid cystic carcinoma adenoma adrenoleukodystrophy adult fibrosarcoma adult oligodendroglioma age related macular degeneration alcohol dependence alcohol use disorder alcoholic hepatitis alcoholic liver cirrhosis ameloblastoma amyloidosis anxiety disorder arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis atrial fibrillation attention deficit hyperactivity disorder autoimmune disease autoimmune lymphoproliferative syndrome autosomal dominant Robinow syndrome 1 autosomal dominant Robinow syndrome 2 autosomal dominant Robinow syndrome 3 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 Robinow syndrome 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 autosomal recessive osteopetrosis 7 benign mastocytoma bipolar disorder blepharophimosis blepharospasm blindness brain stem infarction breast cancer bronchus cancer bronchus carcinoma cancer carcinoma cataract central nervous system cancer cerebral amyloid angiopathy cerebral artery occlusion cerebral degeneration cerebral infarction cerebrovascular disease childhood oligodendroglioma childhood spinal muscular atrophy cholangiocarcinoma chondrocalcinosis chondrodysplasia-pseudohermaphroditism syndrome chondrosarcoma choreaacanthocytosis chronic lymphocytic leukemia chronic myeloid leukemia cleft palate cleidocranial dysplasia clubfoot colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma complex cortical dysplasia with other brain malformations 1 complex cortical dysplasia with other brain malformations 7 congestive heart failure cornea plana coronary artery disease cystic fibrosis degeneration of macula and posterior pole dextro-looped transposition of the great arteries diabetes mellitus diabetic ketoacidosis disease of mental health distal myopathy embryoma enthesopathy epidermolysis bullosa epilepsy erythema multiforme esophageal cancer esophageal carcinoma exostosis extracutaneous mastocytoma facioscapulohumeral muscular dystrophy 1 facioscapulohumeral muscular dystrophy familial hypercholesterolemia familial hyperlipidemia familial nephrotic syndrome fibromyalgia fibrosarcoma focal hand dystonia follicular adenoma fragile X syndrome gallbladder cancer gallbladder carcinoma gas gangrene generalized anxiety disorder gestational diabetes giant cell glioblastoma glioblastoma gliosarcoma glomerulonephritis hepatitis B hepatitis C hepatitis E hepatoblastoma hepatocellular carcinoma hereditary multiple exostoses high grade glioma humeroradial synostosis hydranencephaly hypereosinophilic syndrome hyperglycemia hypolipoproteinemia immune system disease in situ carcinoma interstitial nephritis intracranial aneurysm intrahepatic cholangiocarcinoma isolated cleft palate isolated ectopia lentis isolated elevated serum creatine phosphokinase levels juvenile spinal muscular atrophy kidney disease kidney failure large intestine cancer leech infestation limb-girdle muscular dystrophy lingual-facial-buccal dyskinesia lipoid nephrosis lissencephaly liver cancer liver carcinoma liver cirrhosis low compliance bladder lung cancer lung carcinoma lupus erythematosus lupus nephritis macular degeneration malignant epithelial mesothelioma malignant hyperthermia mast cell neoplasm mastocytosis melanoma membranous glomerulonephritis microcephalic osteodysplastic primordial dwarfism type I microcephalic osteodysplastic primordial dwarfism type II microcephaly microcystic adenoma mixed glioma mixed oligodendroglioma-astrocytoma mucopolysaccharidosis IV multiple epiphyseal dysplasia multiple types of congenital heart defects 6 muscular dystrophy musculoskeletal system disease myiasis myopia myositis myotonic disease myotonic dystrophy type 1 myotonic dystrophy type 2 nephritis nephrolithiasis nephrosis nephrotic syndrome type 1 nephrotic syndrome nutmeg liver 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 dextro-looped transposition of the great arteries 1 obsolete type 1 diabetes mellitus 9 oculopharyngeal muscular dystrophy oligodendroglioma osteoarthritis osteochondrodysplasia osteopetrosis osteoporosis osteosclerosis ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma papillary adenoma papillary carcinoma periarthritis polyhydramnios pontocerebellar hypoplasia type 2D pontocerebellar hypoplasia type 7 pontocerebellar hypoplasia type 8 pontocerebellar hypoplasia type 9 pre-eclampsia primary pulmonary hypertension progressive muscular atrophy prostate cancer prostate carcinoma proximal symphalangism pseudosarcomatous fibromatosis psychotic disorder pyelitis pyelonephritis pyoureter radioulnar synostosis renal infectious disease salivary gland adenoid cystic carcinoma sarcomatoid carcinoma schizophrenia scleroderma scoliosis short-rib thoracic dysplasia 14 with polydactyly sick sinus syndrome skin melanoma spermatic cord torsion spinal muscular atrophy squamous cell carcinoma steatotic liver disease syndromic X-linked intellectual disability Najm type systemic lupus erythematosus systemic scleroderma tendinitis thanatophoric dysplasia thrombocytopenia thyroid adenoma thyroid cancer thyroid gland carcinoma tongue squamous cell carcinoma toxic shock syndrome toxoplasmosis 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 uremia uric acid nephrolithiasis urticaria pigmentosa uveal melanoma
Q6P1J6	Phospholipase B1, membrane-associated	PLB1 PLB	13	0	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 Barrett's esophagus Crohn's colitis Crohn's disease Guillain-Barre syndrome IgA glomerulonephritis IgG4-related disease Krabbe disease Kufor-Rakeb syndrome Marfan syndrome Miller Fisher syndrome Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Pick's disease Reye syndrome Werner syndrome West Nile fever X-linked chronic granulomatous disease acoustic neuroma acute chest syndrome acute myeloid leukemia acute myocardial infarction adrenoleukodystrophy adult respiratory distress syndrome allergic asthma allergic rhinitis alternating hemiplegia of childhood anaplastic astrocytoma angiomatous meningioma anthrax disease arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy asthma ataxia telangiectasia atherosclerosis atopic dermatitis autoimmune disease autoimmune lymphoproliferative syndrome autonomic neuropathy autosomal dominant cerebellar ataxia autosomal dominant distal hereditary motor neuronopathy 2 bacterial infectious disease bacterial sepsis basal ganglia disease benign meningioma benign mesothelioma bipolar disorder blepharospasm blood coagulation disease breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer candidiasis cardiac arrest cardiovascular system disease cataract central nervous system disease cerebral convexity meningioma cerebral degeneration childhood cerebral astrocytoma chronic ethmoiditis chronic fatigue syndrome chronic granulomatous disease chronic interstitial cystitis chronic kidney disease chronic obstructive pulmonary disease chronic sphenoidal sinusitis clear cell meningioma clonorchiasis colitis colon adenocarcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma complement deficiency coronary artery disease coronary thrombosis cryptococcosis cryptosporidiosis cystic fibrosis depressive disorder dermatitis diabetes mellitus diabetic ketoacidosis dilated cardiomyopathy 1A dilated cardiomyopathy dysthymic disorder embryoma encephalitis encephalomyelitis endometrial cancer endometrial carcinoma esophagitis esophagus adenocarcinoma familial adenomatous polyposis 1 familial adenomatous polyposis familial hyperlipidemia familial nephrotic syndrome fibrillary astrocytoma fibrous meningioma focal hand dystonia focal segmental glomerulosclerosis fragile X-associated tremor/ataxia syndrome gastroduodenal Crohn's disease gastroenteritis gastroesophageal reflux disease gemistocytic astrocytoma glaucoma glomerulonephritis glucose intolerance heart disease hepatitis C hepatocellular carcinoma hereditary spastic paraplegia 35 high grade glioma hyperglycemia ileitis ileocolitis immune system disease inflammatory bowel disease 1 inflammatory bowel disease intermediate coronary syndrome interstitial cystitis intraorbital meningioma intraventricular meningioma intrinsic asthma islet cell tumor isovaleric acidemia jejunoileitis juvenile pilocytic astrocytoma keratitis keratoconjunctivitis kidney disease large intestine cancer leukemia leukodystrophy lingual-facial-buccal dyskinesia lipoid nephrosis liver cancer liver cirrhosis lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lymphangioleiomyomatosis lymphoplasmacyte-rich meningioma macular corneal dystrophy major depressive disorder malignant astrocytoma malignant mesothelioma mastitis melancholic depression membranous glomerulonephritis meningioma meningothelial meningioma microcystic meningioma mood disorder movement disease multiple sclerosis myelitis myocardial infarction narcolepsy nasopharynx carcinoma nephritis nephrosis nephrotic syndrome nervous system disease neuroaxonal dystrophy neuroblastoma neurodegeneration with brain iron accumulation 2a neurodegeneration with brain iron accumulation 2b neurodegeneration with brain iron accumulation 3 neurodegeneration with brain iron accumulation 4 neurodegeneration with brain iron accumulation 5 neurodegeneration with brain iron accumulation 6 neurodegeneration with brain iron accumulation neurodegenerative disease neurotic disorder newborn respiratory distress syndrome nutmeg liver obesity obsolete inherited blood coagulation disease obsolete major affective disorder 1 obsolete major affective disorder 2 obsolete melancholia olfactory groove meningioma oral candidiasis osteoarthritis ovarian cancer ovarian carcinoma pantothenate kinase-associated neurodegeneration parapsoriasis parasagittal meningioma patent ductus arteriosus peptic esophagitis pilocytic astrocytoma pituitary adenoma pre-eclampsia prediabetes syndrome primary open angle glaucoma progeria prostate cancer prostate carcinoma protoplasmic astrocytoma psammomatous meningioma psoriasis pulmonary coin lesion pustulosis of palm and sole pyoureter rheumatoid arthritis sarcoidosis schizophrenia secondary Parkinson disease secretory meningioma sick sinus syndrome silent myocardial infarction situs inversus spinal meningioma spinocerebellar ataxia type 2 subependymal giant cell astrocytoma systemic lupus erythematosus thrombophilia transitional meningioma tuberous sclerosis 1 tuberous sclerosis type 2 diabetes mellitus ulcerative colitis uterine corpus cancer uveoparotid fever vascular disease vasculitis vasomotor rhinitis vulvovaginitis
P49419	Alpha-aminoadipic semialdehyde dehydrogenase	ALDH7A1 ATQ1	2	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 Balo concentric sclerosis Becker muscular dystrophy Dravet syndrome Duchenne muscular dystrophy Huntington's disease-like 1 Huntington's disease-like 2 Huntington's disease Pendred Syndrome Pick's disease Reye syndrome Richter's syndrome Usher syndrome type 1 Usher syndrome acrodermatitis adrenoleukodystrophy adult respiratory distress syndrome allergic asthma asphyxia neonatorum asthma atopic dermatitis 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 bone disease brain stem infarction breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma cardiovascular system disease cartilage disease cataract 1 multiple types cataract 10 multiple types cataract 11 multiple types cataract 12 multiple types cataract 13 with adult i phenotype cataract 14 multiple types cataract 15 multiple types cataract 16 multiple types cataract 17 multiple types cataract 18 cataract 19 multiple types cataract 2 multiple types cataract 20 multiple types cataract 21 multiple types cataract 22 multiple types cataract 23 cataract 24 cataract 25 cataract 26 multiple types cataract 27 cataract 29 cataract 3 multiple types cataract 30 cataract 31 multiple types cataract 32 multiple types cataract 33 cataract 34 multiple types cataract 35 cataract 37 cataract 38 cataract 39 multiple types cataract 4 multiple types cataract 40 cataract 41 cataract 42 cataract 43 cataract 44 cataract 45 cataract 46 juvenile-onset cataract 5 multiple types cataract 6 multiple types cataract 7 cataract 8 multiple types cataract 9 multiple types cataract central nervous system disease cerebral artery occlusion cerebral degeneration cerebral infarction cerebrovascular disease cholera chronic lymphocytic leukemia coloboma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer cone-rod dystrophy congestive heart failure connective tissue disease depressive disorder dermatitis developmental and epileptic encephalopathy 2 diabetes mellitus dilated cardiomyopathy 1A dilated cardiomyopathy disease of mental health distal myopathy dyshormonogenic goiter dysthymic disorder early infantile epileptic encephalopathy early myoclonic encephalopathy embryoma endomyocardial fibrosis epilepsy esophagus squamous cell carcinoma essential hypertension facioscapulohumeral muscular dystrophy fundus albipunctatus gastrointestinal stromal tumor giant cell glioblastoma glaucoma glioblastoma heart disease hepatitis C hepatocellular carcinoma high grade glioma homocystinuria hydrocephalus hyperprolinemia type 2 hypertension hypertropia hypophosphatasia impotence intellectual disability intermittent claudication intrinsic asthma keratosis follicularis lactic acidosis large intestine cancer learning disability limb-girdle muscular dystrophy lingual-facial-buccal dyskinesia liver cancer liver carcinoma liver cirrhosis lung benign neoplasm lung cancer lung carcinoma lung disease lung non-small cell carcinoma major depressive disorder mechanical strabismus melancholic depression melanoma microphthalmia mongolian spot movement disease muscular dystrophy narcolepsy nervous system disease neurotic disorder newborn respiratory distress syndrome nodular prostate obsolete Dravet syndrome obsolete Matthew-Wood syndrome obsolete autosomal dominant limb-girdle muscular dystrophy type 1A obsolete autosomal dominant limb-girdle muscular dystrophy type 1B obsolete autosomal dominant limb-girdle muscular dystrophy type 1C obsolete autosomal recessive limb-girdle muscular dystrophy type 2R obsolete infantile epileptic encephalopathy obsolete melancholia oculopharyngeal muscular dystrophy open-angle glaucoma ophthalmoplegia osteoporosis peripheral artery disease peripheral vascular disease pigment dispersion syndrome pneumonia premature ejaculation primary pulmonary hypertension prostate cancer prostate carcinoma prostatic adenoma pseudoxanthoma elasticum psychologic dyspareunia psychotic disorder rectal benign neoplasm rectum adenocarcinoma rectum cancer retinitis pigmentosa sarcomatoid carcinoma schizophrenia seminoma sexual dysfunction skin melanoma speech disorder squamous cell carcinoma status epilepticus stomach cancer stomach carcinoma strabismus testicular cancer testicular germ cell cancer tongue squamous cell carcinoma type 2 diabetes mellitus visual epilepsy
Q99685	Monoglyceride lipase	MGLL	0	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 Balo concentric sclerosis Crohn's colitis Crohn's disease Huntington's disease-like 1 Huntington's disease-like 2 Huntington's disease Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Pick's disease Reye syndrome abdominal obesity-metabolic syndrome 1 acute myocardial infarction adenocarcinoma adenoma adenosquamous carcinoma adrenoleukodystrophy agnosia alcohol dependence alcohol use disorder alternating hemiplegia of childhood amyotrophic lateral sclerosis anxiety disorder arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease ascending cholangitis atherosclerosis atopic dermatitis autonomic neuropathy bacterial sepsis bone cancer bone disease bone osteosarcoma brain stem infarction breast cancer breast carcinoma breast medullary carcinoma bronchus cancer bronchus carcinoma cancer cannabis abuse cannabis dependence cardiac arrest cardiovascular system disease cartilage disease central nervous system disease cerebral artery occlusion cerebral degeneration cerebral infarction cerebrovascular disease cervical adenocarcinoma cervical cancer cervix carcinoma childhood osteosarcoma cholangitis cholesteatoma cholinergic urticaria chronic fatigue syndrome chronic interstitial cystitis colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma connective tissue disease coronary artery disease coronary thrombosis cribriform carcinoma dermatitis diabetes mellitus embryoma encephalitis encephalomyelitis endometrial cancer endometrial carcinoma epilepsy follicular adenoma gastric ulcer gastrointestinal stromal tumor generalized anxiety disorder gestational diabetes glaucoma granular cell carcinoma heart disease hepatitis hepatocellular carcinoma inflammatory bowel disease 1 inflammatory bowel disease interstitial cystitis invasive ductal carcinoma large intestine cancer liver cancer lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma melanoma microcystic adenoma middle cerebral artery infarction migraine myelitis myocardial infarction narcolepsy nervous system disease neuroblastoma neurodegenerative disease neuropathy obesity osteoporosis osteosarcoma papillary adenoma peripheral nervous system disease phobic disorder polyneuropathy polyp of middle ear primary sclerosing cholangitis progressive muscular atrophy prostate cancer prostate carcinoma reflex sympathetic dystrophy sclerosing cholangitis silent myocardial infarction skin melanoma squamous cell carcinoma status epilepticus steatotic liver disease substance abuse substance-related disorder suppurative cholangitis thrombophilia tongue squamous cell carcinoma tropical sprue tubular adenocarcinoma type 2 diabetes mellitus ulcerative colitis uterine corpus cancer varicocele visual epilepsy
P51688	N-sulphoglucosamine sulphohydrolase	SGSH HSS	6	12	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 Kearns-Sayre syndrome Kluver-Bucy syndrome Pick's disease Reye syndrome Schwartz-Jampel syndrome 1 Stevens-Johnson syndrome adrenoleukodystrophy ankylosing spondylitis anorexia nervosa arthritis arthropathy beta-mannosidosis cancer cardiomyopathy central nervous system disease central nervous system origin vertigo cerebral degeneration chronic obstructive pulmonary disease cone-rod dystrophy congenital nystagmus depressive disorder diabetes mellitus diabetic ketoacidosis diarrhea dissociated nystagmus embryoma endomyocardial fibrosis eosinophilic esophagitis epilepsy fundus albipunctatus fundus dystrophy hypertrichosis hypertrophic cardiomyopathy 1 hypertrophic cardiomyopathy intellectual disability learning disability lingual-facial-buccal dyskinesia lysosomal storage disease major depressive disorder melancholic depression movement disease mucopolysaccharidosis I mucopolysaccharidosis II mucopolysaccharidosis III mucopolysaccharidosis IV mucopolysaccharidosis Ih mucopolysaccharidosis VI mucopolysaccharidosis type IIIA mucopolysaccharidosis type IIIB mucopolysaccharidosis type IIIC mucopolysaccharidosis type IIID mucopolysaccharidosis mucosulfatidosis multiple epiphyseal dysplasia narcolepsy nervous system disease neurodegeneration with brain iron accumulation neurodegenerative disease obsolete melancholia osteoarthritis osteochondrodysplasia pathologic nystagmus retinitis pigmentosa sensorineural hearing loss spontaneous ocular nystagmus visual epilepsy
O95992	Cholesterol 25-hydroxylase	CH25H	3	0	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
Q9BZR6	Reticulon-4 receptor	RTN4R NOGOR	7	5	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 Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Pick's disease Reye syndrome X-linked ichthyosis acute myeloid leukemia adrenoleukodystrophy adult lymphoma amyotrophic lateral sclerosis type 1 anaplastic astrocytoma autism spectrum disorder autistic disorder brain cancer brain disease brain stem infarction cancer central nervous system cancer central nervous system disease central nervous system lymphoma cerebral artery occlusion cerebral degeneration cerebral infarction cerebrovascular disease childhood cerebral astrocytoma childhood leukemia childhood lymphoma chronic fatigue syndrome ciliary body disease colorectal cancer colorectal carcinoma diabetes mellitus diabetic cataract diabetic ketoacidosis diabetic retinopathy embryoma encephalitis encephalomyelitis essential tremor fibrillary astrocytoma gemistocytic astrocytoma giant cell glioblastoma glioblastoma gliosarcoma glucose intolerance hepatocellular carcinoma high grade glioma iris disease juvenile pilocytic astrocytoma large intestine cancer leukemia liver cancer liver carcinoma lung adenocarcinoma lung cancer lung non-small cell carcinoma lung small cell carcinoma lymphoma malignant astrocytoma malignant pleural mesothelioma melanoma mixed glioma multiple sclerosis myelitis narcolepsy nasopharynx carcinoma nervous system disease neuroblastoma obsolete ymphosarcoma optic neuritis panuveitis pilocytic astrocytoma prediabetes syndrome protoplasmic astrocytoma psychotic disorder relapsing-remitting multiple sclerosis schizoaffective disorder schizophrenia schizophreniform disorder skin melanoma squamous cell carcinoma subependymal giant cell astrocytoma teratocarcinoma tongue squamous cell carcinoma uveitis
O00767	Stearoyl-CoA desaturase	SCD FADS5 SCD1 SCDOS	0	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 Bannayan-Riley-Ruvalcaba syndrome Bietti crystalline corneoretinal dystrophy Bloom syndrome Brugada syndrome 1 Brugada syndrome 2 Brugada syndrome 3 Brugada syndrome 4 Brugada syndrome 5 Brugada syndrome 6 Brugada syndrome 7 Brugada syndrome 8 Brugada syndrome 9 Brugada syndrome Cowden syndrome Fabry disease Graves' disease Hodgkin's granuloma Hodgkin's lymphoma, lymphocytic depletion Hodgkin's lymphoma, lymphocytic-histiocytic predominance Hodgkin's lymphoma, mixed cellularity Hodgkin's lymphoma Japanese encephalitis Marfan syndrome Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Pick's disease Reye syndrome Timothy syndrome Wolman disease Zollinger-Ellison syndrome abdominal obesity-metabolic syndrome 1 actinic keratosis acute lymphoblastic leukemia adenocarcinoma adenoma allergic asthma amyloidosis amyotrophic lateral sclerosis anemia anorexia nervosa antithrombin III deficiency arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease asthma atherosclerosis attention deficit hyperactivity disorder autism spectrum disorder autistic disorder autoimmune disease autoimmune lymphoproliferative syndrome basal cell carcinoma beta thalassemia bipolar disorder bladder carcinoma breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma cardiac arrest cardiomyopathy cardiovascular system disease catecholaminergic polymorphic ventricular tachycardia 1 catecholaminergic polymorphic ventricular tachycardia 2 catecholaminergic polymorphic ventricular tachycardia 3 catecholaminergic polymorphic ventricular tachycardia 4 catecholaminergic polymorphic ventricular tachycardia 5 catecholaminergic polymorphic ventricular tachycardia central nervous system cancer cerebral degeneration cerebral infarction cerebrovascular disease chromophobe renal cell carcinoma chylomicron retention disease clear cell renal cell carcinoma collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma congenital generalized lipodystrophy type 1 congenital generalized lipodystrophy type 2 congenital generalized lipodystrophy type 3 congenital generalized lipodystrophy type 4 congenital hemolytic anemia congestive heart failure coronary artery disease cribriform carcinoma dementia dengue disease depressive disorder diabetes mellitus diabetic ketoacidosis dilated cardiomyopathy 1A dilated cardiomyopathy disease of metabolism dysthymic disorder embryoma endocrine exophthalmos endometrial cancer endometrial carcinoma endomyocardial fibrosis epidermodysplasia verruciformis essential hypertension eye disease familial combined hyperlipidemia familial hypertrophic cardiomyopathy gestational diabetes gliosarcoma glomerulonephritis glucose intolerance granular cell carcinoma head and neck cancer head and neck squamous cell carcinoma heart disease hemoglobin C disease hemoglobin D disease hemoglobin E disease hemoglobinopathy hepatitis C hepatocellular carcinoma high grade glioma homocystinuria hyperglycemia hyperinsulinism hypertension hyperthyroidism hypertrophic cardiomyopathy immune system disease intrinsic asthma kidney disease large intestine cancer lipid storage disease lipoatrophic diabetes mellitus lipodystrophy liver cancer liver carcinoma liver cirrhosis long QT syndrome 1 long QT syndrome 2 long QT syndrome lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma macrocytic anemia major depressive disorder mastitis melancholic depression melanoma mitral valve insufficiency mitral valve prolapse mixed glioma morbid obesity myeloproliferative disorder with eosinophilia nephritis nephrosis neurotic disorder nonpapillary renal cell carcinoma nutmeg liver obesity obsolete melancholia obsolete type 1 diabetes mellitus 9 obstructive sleep apnea osteomalacia ovarian cancer ovarian carcinoma papillary adenocarcinoma papillary renal cell carcinoma patulous eustachian tube polycystic ovary syndrome postural orthostatic tachycardia syndrome prediabetes syndrome progressive muscular atrophy prostate adenocarcinoma prostate cancer prostate carcinoma protein C deficiency protein S deficiency pyoureter renal carcinoma renal cell carcinoma rheumatoid arthritis rickets sarcomatoid carcinoma sarcomatoid renal cell carcinoma schizophrenia sebaceous carcinoma seborrheic keratosis sensorineural hearing loss sick sinus syndrome sickle cell anemia situs inversus skin disease skin melanoma splenic sequestration steatotic liver disease sweat gland cancer synovitis systemic primary carnitine deficiency disease thalassemia thrombophilia thyroid adenoma thyroid cancer thyroid gland anaplastic carcinoma thyroid gland carcinoma thyroid gland papillary carcinoma thyrotoxicosis tuberous sclerosis tubular adenocarcinoma type 1 diabetes mellitus 10 type 1 diabetes mellitus 11 type 1 diabetes mellitus 12 type 1 diabetes mellitus 13 type 1 diabetes mellitus 15 type 1 diabetes mellitus 17 type 1 diabetes mellitus 18 type 1 diabetes mellitus 19 type 1 diabetes mellitus 20 type 1 diabetes mellitus 21 type 1 diabetes mellitus 22 type 1 diabetes mellitus 23 type 1 diabetes mellitus 24 type 1 diabetes mellitus 2 type 1 diabetes mellitus 3 type 1 diabetes mellitus 4 type 1 diabetes mellitus 5 type 1 diabetes mellitus 6 type 1 diabetes mellitus 7 type 1 diabetes mellitus 8 type 1 diabetes mellitus type 2 diabetes mellitus urinary bladder cancer uterine corpus cancer viral infectious disease yellow fever
P24752	Acetyl-CoA acetyltransferase, mitochondrial	ACAT1 ACAT MAT	2	7	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 Bannayan-Riley-Ruvalcaba syndrome Cowden syndrome Crohn's colitis Crohn's disease Pick's disease Reye syndrome adenocarcinoma adenoma adrenal carcinoma adrenal cortex cancer adrenal gland hyperfunction adrenocortical carcinoma adult hepatocellular carcinoma age related macular degeneration agnosia alopecia amyloidosis arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease ataxia telangiectasia atherosclerosis bacterial sepsis beta-ketothiolase deficiency bronchus cancer bronchus carcinoma cancer cardiovascular system disease central nervous system cancer cerebral degeneration chancroid childhood hepatocellular carcinoma chromophobe renal cell carcinoma chronic kidney disease clear cell renal cell carcinoma colitis collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma congestive heart failure coronary artery disease cribriform carcinoma cystathioninuria degeneration of macula and posterior pole developmental coordination disorder diabetes mellitus diarrhea disease of metabolism dry eye syndrome embryoma epilepsy essential hypertension familial hyperlipidemia familial nephrotic syndrome focal epilepsy gastroenteritis giant cell glioblastoma glioblastoma gliosarcoma granular cell carcinoma heart disease hepatitis C hepatocellular carcinoma high grade glioma hyperglycemia hypertension hyperuricemia hypoglycemia ileitis ileocolitis inflammatory bowel disease 1 inflammatory bowel disease inherited metabolic disorder intellectual disability kwashiorkor lactic acidosis large intestine cancer learning disability leptospirosis lipoid nephrosis liver cancer liver cirrhosis lung benign neoplasm lung cancer lung carcinoma lymphogranuloma venereum macular degeneration malignant teratoma marasmus mature teratoma mixed glioma necrotizing ulcerative gingivitis nephrotic syndrome neuroblastoma nonpapillary renal cell carcinoma nutmeg liver nutrition disease obsolete Cushing's syndrome papillary renal cell carcinoma partial motor epilepsy pneumocystosis primary hyperaldosteronism prostate cancer prostate carcinoma protein-energy malnutrition rectal benign neoplasm rectum adenocarcinoma rectum cancer renal carcinoma renal cell carcinoma sarcomatoid renal cell carcinoma steatotic liver disease syndromic X-linked intellectual disability 94 teratoma thrombocytosis trypanosomiasis tubular adenocarcinoma type 2 diabetes mellitus tyrosinemia type I tyrosinemia ulcerative colitis urea cycle disorder uterine cancer uterine corpus cancer visual epilepsy xanthomatosis xerophthalmia yaws
P21589	5'-nucleotidase	NT5E NT5 NTE	4	25	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 Baraitser-Winter syndrome Chagas disease Crohn's colitis Crohn's disease Down syndrome Fabry disease Fraser syndrome 1 Fraser syndrome Gilbert syndrome Goldenhar syndrome Goodpasture syndrome Graves' disease Huntington's disease-like 1 Huntington's disease-like 2 Huntington's disease Jervell-Lange Nielsen syndrome Kallmann syndrome MHC class II deficiency Meniere's disease Moebius syndrome Muckle-Wells syndrome Muenke Syndrome Nance-Horan syndrome Oliver-McFarlane syndrome Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Pick's disease Reye syndrome Richter's syndrome Sakati-Nyhan syndrome Sheehan syndrome Takayasu's arteritis Troyer syndrome Turner syndrome Warburg micro syndrome 1 Warburg micro syndrome 2 Warburg micro syndrome 3 Warburg micro syndrome 4 Weissenbacher-Zweymuller syndrome X-linked agammaglobulinemia acinar cell carcinoma acoustic neuroma acute lymphoblastic leukemia acute maxillary sinusitis acute monocytic leukemia acute myeloid leukemia acute myocardial infarction adenocarcinoma adenoma adenosine deaminase deficiency adult acute lymphocytic leukemia adult epithelioid sarcoma adult lymphoma adult medulloblastoma adult respiratory distress syndrome agammaglobulinemia allergic asthma allergic rhinitis amnestic disorder amyotrophic lateral sclerosis type 1 amyotrophic lateral sclerosis type 2 amyotrophic lateral sclerosis type 4 angiomatous meningioma angle-closure glaucoma ankylosing spondylitis anterior horn cell disease anxiety disorder aortic valve disease 1 aortic valve disease 2 aortic valve disease aortic valve stenosis arterial calcification of infancy arterial tortuosity syndrome arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy asthma atherosclerosis autoimmune disease autoimmune lymphoproliferative syndrome autoimmune polyendocrine syndrome autoimmune thyroiditis autosomal recessive distal hereditary motor neuronopathy 1 basal cell carcinoma benign meningioma benign mesothelioma bicuspid aortic valve disease bile duct adenocarcinoma bile duct carcinoma bilirubin metabolic disorder bladder carcinoma brain cancer branchiootic syndrome breast cancer breast carcinoma bronchus cancer bronchus carcinoma calciphylaxis cancer carcinoma cardiac arrest cardiovascular system disease cecum adenocarcinoma celiac disease central nervous system cancer central nervous system origin vertigo cerebral convexity meningioma cerebral degeneration cerebral infarction cerebrovascular disease cervical adenocarcinoma cervical cancer cervix carcinoma childhood acute lymphocytic leukemia childhood epithelioid sarcoma childhood leukemia childhood lymphoma childhood medulloblastoma cholangiocarcinoma cholera chromophobe renal cell carcinoma chronic closed-angle glaucoma chronic fatigue syndrome chronic lymphocytic leukemia chronic maxillary sinusitis chronic obstructive pulmonary disease chronic rhinitis chylomicron retention disease clear cell meningioma clear cell renal cell carcinoma cleft palate colitis collagen disease collecting duct carcinoma colorectal cancer colorectal carcinoma common wart communicating hydrocephalus congenital hemolytic anemia congenital hypogammaglobulinemia congenital nystagmus congestive heart failure connective tissue disease corneal disease coronary artery disease coronary thrombosis craniosynostosis cribriform carcinoma depressive disorder diffuse large B-cell lymphoma dissociated nystagmus double outlet right ventricle dysthymic disorder embryoma encephalitis encephalomyelitis endolymphatic hydrops endometrial cancer endometrial carcinoma endometriosis of ovary endometriosis enthesopathy epilepsy esophagitis esophagus squamous cell carcinoma eunuchism fibromyalgia fibrous meningioma gallbladder adenocarcinoma gallbladder cancer gallbladder carcinoma gastritis gastroenteritis gastroesophageal reflux disease generalized anxiety disorder giant cell glioblastoma glioblastoma gliosarcoma gonadal dysgenesis granular cell carcinoma granulomatosis with polyangiitis head and neck cancer head and neck squamous cell carcinoma heart disease hemoglobin C disease hemoglobin D disease hemoglobin E disease hemoglobinopathy hepatitis hepatocellular carcinoma high grade glioma hydrocephalus hyperthyroidism hypogonadotropic hypogonadism 1 with or without anosmia hypogonadotropic hypogonadism 10 with or without anosmia hypogonadotropic hypogonadism 11 with or without anosmia hypogonadotropic hypogonadism 12 with or without anosmia hypogonadotropic hypogonadism 13 with or without anosmia hypogonadotropic hypogonadism 14 with or without anosmia hypogonadotropic hypogonadism 16 with or without anosmia hypogonadotropic hypogonadism 17 with or without anosmia hypogonadotropic hypogonadism 18 with or without anosmia hypogonadotropic hypogonadism 19 with or without anosmia hypogonadotropic hypogonadism 2 with or without anosmia hypogonadotropic hypogonadism 20 with or without anosmia hypogonadotropic hypogonadism 21 with or without anosmia hypogonadotropic hypogonadism 22 with or without anosmia hypogonadotropic hypogonadism 3 with or without anosmia hypogonadotropic hypogonadism 4 with or without anosmia hypogonadotropic hypogonadism 5 with or without anosmia hypogonadotropic hypogonadism 6 with or without anosmia hypogonadotropic hypogonadism 7 with or without anosmia hypogonadotropic hypogonadism 8 with or without anosmia hypogonadotropic hypogonadism 9 with or without anosmia hypogonadotropic hypogonadism hypopituitarism idiopathic interstitial pneumonia idiopathic pulmonary fibrosis ileitis ileocolitis immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome immune system disease inflammatory bowel disease 1 inflammatory bowel disease intrahepatic cholangiocarcinoma intraorbital meningioma intraventricular meningioma intrinsic asthma isolated cleft palate isolated growth hormone deficiency type IA isolated growth hormone deficiency type IB isolated growth hormone deficiency type II isolated growth hormone deficiency type III isolated growth hormone deficiency keratoconus keratosis follicularis kidney cancer large intestine cancer laryngeal disease laryngeal squamous cell carcinoma lateral sclerosis lipid storage disease liver cancer liver cirrhosis lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lupus erythematosus lymphoblastic lymphoma major depressive disorder malignant mesothelioma mastoiditis maxillary sinusitis medulloblastoma medullomyoblastoma melancholic depression melanoma melanotic medulloblastoma meningioma meningothelial meningioma microcystic meningioma microphthalmia mixed glioma mongolian spot motor neuron disease mucocele of salivary gland mucopolysaccharidosis II mucopolysaccharidosis III mucopolysaccharidosis IV mucopolysaccharidosis VI mucopolysaccharidosis multiple sclerosis myelitis myocardial infarction neuroblastoma neuroendocrine carcinoma neuroendocrine tumor neuropathy neurotic disorder newborn respiratory distress syndrome non-suppurative otitis media nonpapillary renal cell carcinoma nutmeg liver obsolete Matthew-Wood syndrome obsolete melancholia obstructive hydrocephalus obstructive sleep apnea olfactory groove meningioma orofaciodigital syndrome I orofaciodigital syndrome X osteoarthritis otitis media ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma pancreatic ductal adenocarcinoma panhypopituitarism papillary adenocarcinoma papillary renal cell carcinoma parapsoriasis parasagittal meningioma pathologic nystagmus peptic esophagitis pericarditis periodontitis peripheral nervous system disease peripheral vascular disease pituitary adenoma polyarteritis nodosa polyneuropathy postinflammatory pulmonary fibrosis primary angle-closure glaucoma primary ciliary dyskinesia 1 primary ciliary dyskinesia primary immunodeficiency disease prostate cancer prostate carcinoma psammomatous meningioma pseudoxanthoma elasticum psoriasis pulmonary fibrosis pustulosis of palm and sole pycnodysostosis rectum adenocarcinoma rectum cancer renal carcinoma renal cell carcinoma renal osteodystrophy retrograde amnesia rheumatoid arthritis sarcomatoid carcinoma sarcomatoid renal cell carcinoma secretory meningioma senile degeneration of brain sensorineural hearing loss septooptic dysplasia severe combined immunodeficiency sickle cell anemia silent myocardial infarction skin melanoma spinal meningioma spontaneous ocular nystagmus squamous cell carcinoma status epilepticus stomach cancer stomach carcinoma suppurative periapical periodontitis thrombophilia thyroid gland papillary carcinoma thyrotoxicosis tongue squamous cell carcinoma tonsillitis tracheal disease transitional meningioma trypanosomiasis tuberculosis tubular adenocarcinoma ulcerative colitis urinary bladder cancer uterine corpus cancer vasculitis vasomotor rhinitis visual epilepsy
P27797	Calreticulin	CALR CRTC	4	39	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 Barrett's esophagus Behcet's disease Budd-Chiari syndrome Burkitt lymphoma Chagas disease Graves' disease Hodgkin's granuloma Hodgkin's lymphoma, lymphocytic depletion Hodgkin's lymphoma, lymphocytic-histiocytic predominance Hodgkin's lymphoma, mixed cellularity Hodgkin's lymphoma Kuhnt-Junius degeneration Lyme disease Meckel syndrome Niemann-Pick disease type C1 Niemann-Pick disease Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Patau syndrome Pick's disease Reye syndrome Richter's syndrome Sjogren's syndrome St. Louis encephalitis T-cell acute lymphoblastic leukemia Weissenbacher-Zweymuller syndrome Wilson disease abdominal obesity-metabolic syndrome 1 achalasia acquired von Willebrand syndrome acrodermatitis acromegaly actinic keratosis acute biphenotypic leukemia acute leukemia acute lymphoblastic leukemia acute monocytic leukemia acute myeloid leukemia acute myocardial infarction adenocarcinoma adenoma adenosarcoma adenosquamous carcinoma adult lymphoma adult medulloblastoma age related macular degeneration aggressive systemic mastocytosis ampulla of Vater benign neoplasm amyotrophic lateral sclerosis anaplastic astrocytoma anemia anthrax disease antiphospholipid syndrome arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy atherosclerosis atrial fibrillation atrioventricular block autistic disorder autoimmune disease autoimmune lymphoproliferative syndrome autosomal dominant polycystic kidney disease bacterial infectious disease bacterial sepsis benign ependymoma benign mesothelioma bipolar disorder bladder carcinoma bone inflammation disease bone marrow cancer bone osteosarcoma breast cancer breast carcinoma bronchiectasis bronchus cancer bronchus carcinoma bulimia nervosa cancer carcinoma cardiac arrest cardiac sarcoidosis cardiomyopathy cardiovascular system disease cat-scratch disease catecholaminergic polymorphic ventricular tachycardia 1 catecholaminergic polymorphic ventricular tachycardia 2 catecholaminergic polymorphic ventricular tachycardia 3 catecholaminergic polymorphic ventricular tachycardia 4 catecholaminergic polymorphic ventricular tachycardia 5 catecholaminergic polymorphic ventricular tachycardia cavernous hemangioma cellular ependymoma central nervous system cancer central nervous system lymphoma cerebral creatine deficiency syndrome 1 cerebral degeneration cerebral infarction cerebrovascular disease cervical adenocarcinoma cervical cancer cervical squamous cell carcinoma cervix carcinoma cervix uteri carcinoma in situ childhood acute lymphocytic leukemia childhood cerebral astrocytoma childhood disintegrative disease childhood ependymoma childhood leukemia childhood medulloblastoma childhood osteosarcoma cholangiocarcinoma chorioangioma chromophobe renal cell carcinoma chronic lymphocytic leukemia chronic myeloid leukemia chronic neutrophilic leukemia chronic obstructive pulmonary disease clear cell renal cell carcinoma colitis collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma common wart complement component 2 deficiency complement component 4a deficiency complement component 4b deficiency complement component 6 deficiency complement component 7 deficiency complement component 9 deficiency complement deficiency congenital heart block congenital secretory sodium diarrhea 3 congenital secretory sodium diarrhea 8 congestive heart failure coronary artery disease coronary thrombosis cribriform carcinoma cyclic hematopoiesis cystic fibrosis cystoid macular edema dedifferentiated liposarcoma degeneration of macula and posterior pole delusional disorder dental caries dentin caries depressive disorder dermatitis diabetes mellitus diabetic ketoacidosis diffuse large B-cell lymphoma drug psychosis dysthymic disorder eclampsia embryoma endocarditis endometrial cancer endometrial carcinoma endomyocardial fibrosis enthesopathy esophageal cancer esophageal carcinoma esophagitis esophagus adenocarcinoma esophagus squamous cell carcinoma essential hypertension essential thrombocythemia familial adenomatous polyposis 1 familial adenomatous polyposis familial hypertrophic cardiomyopathy familial nephrotic syndrome fibrillary astrocytoma fibromyalgia follicular adenoma gastroenteritis gastroesophageal reflux disease gastrointestinal system cancer gemistocytic astrocytoma germ cell cancer germinoma giant cell glioblastoma glioblastoma gliosarcoma glomerulonephritis glomus tumor glycogen storage disease II glycoproteinosis granular cell carcinoma head and neck cancer head and neck squamous cell carcinoma heart disease heart valve disease hemangioma hematologic cancer hematopoietic system disease hemochromatosis type 1 hemochromatosis hepatitis A hepatitis B hepatitis hepatocellular carcinoma high grade glioma histiocytoid hemangioma hyperpituitarism hypertension hyperthyroidism hypertrophic cardiomyopathy hypopharynx cancer ileitis ileocolitis immune system disease inclusion conjunctivitis indolent systemic mastocytosis inflammatory bowel disease intellectual disability intermittent claudication intrahepatic cholangiocarcinoma intramuscular hemangioma iron metabolism disease islet cell tumor juvenile myelomonocytic leukemia juvenile pilocytic astrocytoma keratoconjunctivitis sicca kidney disease kwashiorkor large intestine cancer laryngeal disease learning disability left bundle branch hemiblock leukemia lichen disease lipoid nephrosis liposarcoma liver cancer liver cirrhosis lung benign neoplasm lung cancer lung carcinoma lung disease lung non-small cell carcinoma lung small cell carcinoma lupus erythematosus lupus nephritis lymphangioma lymphoma macrocytic anemia macular degeneration macular retinal edema major depressive disorder malignant astrocytoma malignant mesothelioma marasmus mastocytosis medulloblastoma medullomyoblastoma megaesophagus melancholic depression melanoma melanotic medulloblastoma melioidosis microcystic adenoma microphthalmia mixed glioma mucolipidosis II alpha/beta myelodysplastic syndrome myelofibrosis myeloproliferative neoplasm myocardial infarction myxopapillary ependymoma nasopharynx carcinoma nephritis nephroblastoma nephrosis nephrotic syndrome neuroblastoma neuroendocrine carcinoma neuroendocrine tumor neurotic disorder nonpapillary renal cell carcinoma nutrition disease obesity obsolete Matthew-Wood syndrome obsolete melancholia obsolete ymphosarcoma oculocutaneous albinism type IA oculocutaneous albinism onchocerciasis oral submucous fibrosis osteoarthritis osteosarcoma ovarian cancer ovarian carcinoma ovary serous adenocarcinoma pancreatic cancer pancreatic carcinoma pancreatic ductal adenocarcinoma pancytopenia papillary adenoma papillary ependymoma papillary renal cell carcinoma papilloma paranoid schizophrenia parotitis peptic esophagitis periodontitis peripheral vascular disease piebaldism pilocytic astrocytoma pineal region germinoma placental insufficiency plasmacytoma pleomorphic liposarcoma pneumonia polycythemia vera polycythemia portal hypertension post-traumatic stress disorder pre-eclampsia primary immunodeficiency disease proctitis progressive muscular atrophy prostate adenocarcinoma prostate cancer prostate carcinoma protein-energy malnutrition protoplasmic astrocytoma psychotic disorder purpura pyoureter rectal benign neoplasm rectum adenocarcinoma rectum cancer renal carcinoma renal cell carcinoma retinal disease retinal vascular occlusion retinitis rheumatoid arthritis rosacea sarcoidosis sarcomatoid carcinoma sarcomatoid renal cell carcinoma schizoaffective disorder schizophrenia schizophreniform disorder severe acute respiratory syndrome sialadenitis sick sinus syndrome silent myocardial infarction skin melanoma speech disorder spinal muscular atrophy squamous cell carcinoma squamous cell papilloma stomach cancer stomach carcinoma subependymal giant cell astrocytoma systemic lupus erythematosus systemic mastocytosis tanycytic ependymoma thrombocytosis thrombophilia thyroiditis thyrotoxicosis tongue cancer tongue squamous cell carcinoma tracheal disease transient cerebral ischemia trichohepatoenteric syndrome 1 trichohepatoenteric syndrome trypanosomiasis tuberculosis tubular adenocarcinoma type 2 diabetes mellitus type I complement component 8 deficiency type II complement component 8 deficiency ureteral obstruction urinary bladder cancer uterine corpus cancer varicose veins vasculitis vertebrobasilar insufficiency viral infectious disease vitiligo
P26715	NKG2-A/NKG2-B type II integral membrane protein	KLRC1 NKG2A	5	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 Barrett's esophagus Behcet's disease Graves' disease Japanese encephalitis Kawasaki disease Marfan syndrome Pick's disease Reye syndrome acquired immunodeficiency syndrome adult lymphoma allergic rhinitis autoimmune disease autoimmune hepatitis autoimmune lymphoproliferative syndrome bacterial sepsis cancer central nervous system lymphoma cerebral degeneration childhood lymphoma choriocarcinoma chromophobe renal cell carcinoma chronic myeloid leukemia clear cell renal cell carcinoma collecting duct carcinoma colorectal cancer colorectal carcinoma dengue disease embryoma endometriosis of uterus endometriosis enthesopathy fibromyalgia hematologic cancer hepatitis A hepatitis B hepatitis C hepatitis hepatocellular carcinoma human immunodeficiency virus infectious disease hyperthyroidism immune system disease large intestine cancer leukemia liver cancer liver carcinoma lymphoma melanoma multiple myeloma multiple sclerosis nonpapillary renal cell carcinoma obsolete ymphosarcoma papillary renal cell carcinoma parapsoriasis placenta cancer psoriasis pustulosis of palm and sole renal carcinoma renal cell carcinoma rheumatoid arthritis sarcomatoid renal cell carcinoma situs inversus skin melanoma systemic lupus erythematosus thyrotoxicosis tongue cancer tropical spastic paraparesis tuberous sclerosis vasomotor rhinitis viral infectious disease vitiligo yellow fever
P29372	DNA-3-methyladenine glycosylase	MPG AAG ANPG MID1	7	3	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 Barrett's esophagus Bloch-Sulzberger syndrome IgA glomerulonephritis Pick's disease Reye syndrome adenocarcinoma adenoma anal carcinoma in situ anemia aortic valve disease 2 aortic valve stenosis breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma central nervous system cancer cerebral degeneration cervical adenocarcinoma cervical cancer cervix carcinoma cervix uteri carcinoma in situ chikungunya colorectal cancer colorectal carcinoma common wart dengue hemorrhagic fever depressive disorder diabetes mellitus diabetic ketoacidosis dysthymic disorder embryoma eosinophilic esophagitis esophagus adenocarcinoma familial retinoblastoma follicular adenoma gallbladder cancer gallbladder carcinoma giant cell glioblastoma glioblastoma gliosarcoma hepatitis C hepatocellular carcinoma high grade glioma hyperglycemia hypomelanosis of Ito idiopathic interstitial pneumonia idiopathic pulmonary fibrosis inflammatory bowel disease 1 inflammatory bowel disease large intestine cancer leishmaniasis liver cancer lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma macrocytic anemia major depressive disorder male infertility melancholic depression melanoma microcystic adenoma mixed glioma multiple myeloma neurotic disorder obsolete melancholia papillary adenoma polycystic ovary syndrome postinflammatory pulmonary fibrosis pulmonary fibrosis retinoblastoma rheumatoid arthritis sarcomatoid carcinoma skin melanoma trilateral retinoblastoma tuberculosis type 2 diabetes mellitus ulcerative colitis visceral leishmaniasis xeroderma pigmentosum group C
P47712	Cytosolic phospholipase A2	PLA2G4A CPLA2 PLA2G4	3	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 Barrett's esophagus Burkitt lymphoma Crohn's colitis Crohn's disease Meckel syndrome Meier-Gorlin syndrome 1 Meier-Gorlin syndrome Pick's disease Reye syndrome abdominal obesity-metabolic syndrome 1 acrodermatitis actinic keratosis acute chest syndrome acute monocytic leukemia acute myeloid leukemia acute myocardial infarction adenocarcinoma adenoma adult acute monocytic leukemia adult oligodendroglioma adult respiratory distress syndrome allergic asthma alternating hemiplegia of childhood amnestic disorder amyloidosis amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 amyotrophic lateral sclerosis anaplastic astrocytoma androgen insensitivity syndrome angioedema aortic valve insufficiency arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy asthma ataxia telangiectasia atherosclerosis autistic disorder autonomic neuropathy autosomal dominant polycystic kidney disease bacterial infectious disease bacterial sepsis benign mesothelioma bile duct adenocarcinoma bile duct carcinoma bipolar disorder blood coagulation disease blood platelet disease bone osteosarcoma brain ischemia brain stem infarction breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer cardiovascular system disease cataract celiac disease central nervous system disease cerebral artery occlusion cerebral degeneration cerebral infarction cerebrovascular disease cervical adenocarcinoma cervical cancer cervix carcinoma childhood cerebral astrocytoma childhood oligodendroglioma childhood osteosarcoma cholangiocarcinoma chronic fatigue syndrome clonorchiasis colitis colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma coronary artery disease coronary thrombosis cribriform carcinoma cystic fibrosis deficiency anemia depressive disorder dermatitis dermoid cyst diabetes mellitus disease of metabolism distal arthrogryposis duodenal ulcer dysthymic disorder embryoma encephalitis encephalomyelitis epilepsy esophageal disease esophagus adenocarcinoma esophagus squamous cell carcinoma essential hypertension essential thrombocythemia familial adenomatous polyposis 1 familial adenomatous polyposis fibrillary astrocytoma gastric ulcer gastroenteritis gemistocytic astrocytoma giant cell glioblastoma glaucoma glioblastoma granular cell carcinoma heart disease hepatocellular carcinoma high grade glioma hyperglycemia hypertension hypochromic anemia idiopathic interstitial pneumonia ileitis ileocolitis inflammatory bowel disease 1 inflammatory bowel disease inherited metabolic disorder intestinal infectious disease intrahepatic cholangiocarcinoma intrinsic asthma islet cell tumor juvenile pilocytic astrocytoma large intestine cancer liver cancer liver cirrhosis lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma major depressive disorder malignant astrocytoma malignant mesothelioma melancholic depression melanoma microcytic anemia middle cerebral artery infarction mixed oligodendroglioma-astrocytoma mood disorder multiple sclerosis myelitis myelodysplastic syndrome myocardial infarction nervous system disease neuroaxonal dystrophy neuroblastoma neurodegeneration with brain iron accumulation 2a neurodegeneration with brain iron accumulation neurodegenerative disease neurotic disorder newborn respiratory distress syndrome obesity obsolete inherited blood coagulation disease obsolete major affective disorder 1 obsolete major affective disorder 2 obsolete melancholia oligodendroglioma osteoarthritis osteosarcoma pancreatic cancer pancreatic carcinoma papilloma pilocytic astrocytoma pneumonia postinflammatory pulmonary fibrosis premature menopause primary open angle glaucoma primary ovarian insufficiency primary pulmonary hypertension progressive muscular atrophy prostate cancer prostate carcinoma protoplasmic astrocytoma psoriatic arthritis psychotic disorder pulmonary fibrosis rectal benign neoplasm rectum adenocarcinoma rectum cancer retrograde amnesia rheumatoid arthritis schizoaffective disorder schizophrenia schizophreniform disorder seborrheic keratosis sickle cell anemia silent myocardial infarction skin disease skin melanoma squamous cell carcinoma squamous cell papilloma squamous papillomatosis status epilepticus subependymal giant cell astrocytoma tauopathy tongue squamous cell carcinoma transitional cell carcinoma tubular adenocarcinoma type 2 diabetes mellitus ulcerative colitis ureteral obstruction urticaria visual epilepsy
P14410	Sucrase-isomaltase, intestinal	SI	18	3	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 Barrett's esophagus Clostridium difficile colitis Duchenne muscular dystrophy Fabry disease Gaucher's disease Gerstmann-Straussler-Scheinker syndrome Gorham's disease Japanese encephalitis Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Pick's disease Reye syndrome Richter's syndrome adenocarcinoma adenoma amyotrophic lateral sclerosis arteriosclerotic cardiovascular disease atherosclerosis 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 brachydactyly type C brachydactyly cancer cardiomyopathy cardiovascular system disease cerebral degeneration chronic lymphocytic leukemia chylomicron retention disease colitis colorectal cancer colorectal carcinoma congenital disorder of glycosylation congenital muscular dystrophy coronary artery disease cribriform carcinoma cystic fibrosis cystinuria dengue disease depressive disorder diabetes mellitus diabetic ketoacidosis diarrhea disease of metabolism distal myopathy embryoma endomyocardial fibrosis facioscapulohumeral muscular dystrophy familial hypertrophic cardiomyopathy familial periodic paralysis galactosemia gastric cardia adenocarcinoma gastroenteritis gastrointestinal system disease glucose intolerance glucosephosphate dehydrogenase deficiency glycogen storage disease II glycogen storage disease IXa glycogen storage disease IXb glycogen storage disease IXc glycogen storage disease IXd glycogen storage disease Ia glycogen storage disease granular cell carcinoma heart disease hyperglycemia hypertrophic cardiomyopathy hypoglycemia ileitis ileocolitis intestinal disease irritable bowel syndrome kwashiorkor lactose intolerance large intestine cancer limb-girdle muscular dystrophy lipid storage disease lysosomal storage disease major depressive disorder marasmus melancholic depression muscular dystrophy myofibrillar myopathy 1 myofibrillar myopathy 3 myopathy myotonic dystrophy type 1 myotonic dystrophy type 2 nephrolithiasis neurocirculatory asthenia neurodegenerative disease nutmeg liver nutrition disease 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 melancholia oculopharyngeal muscular dystrophy peptic ulcer disease prediabetes syndrome progressive muscular atrophy prolactinoma protein-energy malnutrition punctate palmoplantar keratoderma type III rippling muscle disease 2 sudden infant death syndrome tropical sprue tubular adenocarcinoma type 2 diabetes mellitus uric acid nephrolithiasis viral infectious disease yellow fever
P23219	Prostaglandin G/H synthase 1	PTGS1 COX1	3	6	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 Barrett's esophagus Creutzfeldt-Jakob disease Evans' syndrome French Canadian Leigh disease Guillain-Barre syndrome Hantavirus hemorrhagic fever with renal syndrome Leigh disease Lyme disease Marfan syndrome Meckel syndrome Miller Fisher syndrome Pick's disease Reye syndrome Streptococcus pneumonia acoustic neuroma acquired immunodeficiency syndrome actinic keratosis acute chest syndrome acute myeloid leukemia acute myocardial infarction acute promyelocytic leukemia adenocarcinoma adenoma adult respiratory distress syndrome allergic asthma amnestic disorder amyloidosis angiomatous meningioma arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy asthma ataxia telangiectasia atherosclerosis autism spectrum disorder autistic disorder autoimmune polyendocrine syndrome autoimmune thrombocytopenic purpura autosomal dominant polycystic kidney disease basal cell carcinoma benign meningioma bipolar disorder bladder carcinoma blood coagulation disease brain stem infarction breast cancer breast carcinoma bronchus cancer bronchus carcinoma bursitis cancer carcinoma cardiac arrest cardiovascular system disease central nervous system cancer cerebral artery occlusion cerebral convexity meningioma cerebral degeneration cerebral infarction cerebral palsy cerebrovascular disease cervical adenocarcinoma cervical cancer cervix carcinoma childhood leukemia childhood type dermatomyositis chorioamnionitis chromophobe renal cell carcinoma chronic ethmoiditis chronic kidney disease chronic myeloid leukemia chronic obstructive pulmonary disease chronic sphenoidal sinusitis clear cell meningioma clear cell renal cell carcinoma colitis collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma congestive heart failure coronary artery disease coronary thrombosis cribriform carcinoma cytochrome-c oxidase deficiency disease depressive disorder dermatomyositis diabetes mellitus diabetic ketoacidosis dysthymic disorder eclampsia embryoma epilepsy erythromelalgia esophageal cancer esophageal carcinoma esophagitis esophagus adenocarcinoma esophagus squamous cell carcinoma essential hypertension essential thrombocythemia extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue eyelid disease familial adenomatous polyposis 1 familial adenomatous polyposis familial hyperlipidemia fibrous meningioma follicular adenoma frozen shoulder gastric lymphoma gastric ulcer gastritis gastroenteritis gastroesophageal reflux disease gastrointestinal system cancer gastrointestinal system disease giant cell glioblastoma glioblastoma gliosarcoma glomerulonephritis granular cell carcinoma head and neck cancer head and neck squamous cell carcinoma heart disease hemiplegia hepatic coma hepatic encephalopathy hepatitis hepatocellular carcinoma high grade glioma histiocytosis human immunodeficiency virus infectious disease hyperglycemia hypertension idiopathic interstitial pneumonia idiopathic pulmonary fibrosis ileitis ileocolitis immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome inflammatory bowel disease 1 inflammatory bowel disease influenza intestinal disease intracranial vasospasm intraorbital meningioma intraventricular meningioma intrinsic asthma islet cell tumor isovaleric acidemia keratoacanthoma kidney disease kidney failure lactic acidosis large intestine cancer leukemia liver cancer lung benign neoplasm lung cancer lung carcinoma lung disease lung non-small cell carcinoma lung small cell carcinoma lupus erythematosus lupus nephritis lymphoplasmacyte-rich meningioma major depressive disorder meconium aspiration syndrome melancholic depression melanoma meningioma meningothelial meningioma microcystic adenoma microcystic meningioma mixed glioma mood disorder mucoepidermoid carcinoma multiple myeloma myocardial infarction myositis nephritis nephrosis neurogenic arthropathy neuromuscular disease neurotic disorder nonpapillary renal cell carcinoma nose disease nutmeg liver obesity obsolete dyspepsia obsolete inherited blood coagulation disease obsolete melancholia obstructive sleep apnea olfactory groove meningioma osteoarthritis ovarian cancer ovarian carcinoma ovarian cyst oxyphilic adenoma pancreatic cancer pancreatic carcinoma papillary adenoma papillary carcinoma papillary renal cell carcinoma parapsoriasis parasagittal meningioma peptic esophagitis peptic ulcer disease peripheral artery disease pituitary adenoma platelet-type bleeding disorder 12 pneumonia pneumothorax portal hypertension pre-eclampsia primary immunodeficiency disease primary open angle glaucoma primary pulmonary hypertension prostate cancer prostate carcinoma psammomatous meningioma psoriasis psoriatic arthritis pustulosis of palm and sole pyoureter rectal benign neoplasm rectum adenocarcinoma rectum cancer renal carcinoma renal cell carcinoma renovascular hypertension retrograde amnesia rheumatoid arthritis root resorption sarcomatoid carcinoma sarcomatoid renal cell carcinoma schizophrenia secretory meningioma silent myocardial infarction situs inversus skin melanoma spastic diplegia spastic monoplegia spastic quadriplegic cerebral palsy spinal meningioma spindle cell hemangioma squamous cell carcinoma steatotic liver disease stomach cancer stomach carcinoma synovitis systemic lupus erythematosus tenosynovitis thrombocytopenia due to platelet alloimmunization thrombocytopenia thrombosis thyroid adenoma thyroid cancer thyroid gland carcinoma thyroid gland medullary carcinoma tongue squamous cell carcinoma transient cerebral ischemia transitional meningioma tuberous sclerosis 1 tuberous sclerosis tubular adenocarcinoma type 2 diabetes mellitus ulcerative colitis uremia urinary bladder cancer urinary tract obstruction viral infectious disease visual epilepsy xanthomatosis
O14684	Prostaglandin E synthase	PTGES MGST1L1 MPGES1 PGES PIG12	0	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 Barrett's esophagus Hirschsprung's disease Leydig cell tumor Marinesco-Sjogren syndrome Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Pick's disease Reye syndrome T-cell acute lymphoblastic leukemia abdominal aortic aneurysm acute myocardial infarction adenocarcinoma adenoma adult lymphoma allergic asthma amyotrophic lateral sclerosis anaplastic astrocytoma arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy asthma atherosclerosis autism spectrum disorder autistic disorder bile duct adenocarcinoma bile duct carcinoma brain disease breast cancer breast carcinoma breast disease bronchus cancer bronchus carcinoma cancer carcinoma carotid artery disease central nervous system cancer central nervous system lymphoma cerebral degeneration cerebral infarction cerebrovascular disease childhood cerebral astrocytoma childhood lymphoma cholangiocarcinoma chronic fatigue syndrome chronic kidney disease colitis colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma coronary artery disease coronary thrombosis cribriform carcinoma disease of metabolism distal arthrogryposis embryoma encephalitis encephalomyelitis endometriosis of uterus endometriosis epilepsy esophageal cancer esophageal carcinoma esophagitis esophagus adenocarcinoma esophagus squamous cell carcinoma essential hypertension familial adenomatous polyposis 1 familial adenomatous polyposis fibrillary astrocytoma gastroenteritis gastroesophageal reflux disease gemistocytic astrocytoma gliosarcoma glomerulonephritis granular cell carcinoma head and neck squamous cell carcinoma hepatitis A hepatitis B hepatitis hepatocellular carcinoma high grade glioma hydronephrosis hypertension ileitis ileocolitis ileus inflammatory bowel disease intestinal obstruction intracranial aneurysm intrahepatic cholangiocarcinoma intrinsic asthma ischemia islet cell tumor isovaleric acidemia juvenile pilocytic astrocytoma kidney disease lactocele large intestine cancer liver cancer lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lymphoma malignant astrocytoma melanoma mixed glioma multiple sclerosis myelitis myocardial infarction nephritis nephrosis neuroblastoma neurodegenerative disease obesity obsolete ymphosarcoma osteoarthritis pancreatic cancer pancreatic carcinoma papillary adenocarcinoma papillary renal cell carcinoma papilloma patent ductus arteriosus peptic esophagitis periodontitis pilocytic astrocytoma pneumonia primary cerebellar degeneration primary ovarian insufficiency primary sclerosing cholangitis progressive muscular atrophy prostate cancer prostate carcinoma protoplasmic astrocytoma pyoureter rheumatoid arthritis sarcomatoid carcinoma sclerosing cholangitis silent myocardial infarction skin benign neoplasm skin cancer skin melanoma squamous cell carcinoma squamous cell papilloma squamous papillomatosis status epilepticus subependymal giant cell astrocytoma thymic carcinoma thymoma thyroid gland papillary carcinoma tongue squamous cell carcinoma transitional cell carcinoma tubular adenocarcinoma type C thymoma ureteral obstruction visual epilepsy
Q96AD5	Patatin-like phospholipase domain-containing protein 2	PNPLA2 ATGL	4	2	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 Barth syndrome Chanarin-Dorfman syndrome Ehlers-Danlos syndrome Kuhnt-Junius degeneration Laron syndrome Pick's disease Reye syndrome Zollinger-Ellison syndrome abdominal obesity-metabolic syndrome 1 acanthosis nigricans achondroplasia acute myocardial infarction acute promyelocytic leukemia adenocarcinoma adenoma adenosarcoma adult liposarcoma age related macular degeneration agnosia anogenital venereal wart arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis autosomal recessive congenital ichthyosis 1 bacterial sepsis bladder carcinoma bone disease bone osteosarcoma breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer cardiomyopathy cardiovascular system disease cartilage disease cavernous hemangioma celiac disease central nervous system cancer cerebral degeneration childhood liposarcoma childhood osteosarcoma cholecystitis chorioangioma chylomicron retention disease colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma common wart cone-rod dystrophy congenital generalized lipodystrophy type 1 congenital generalized lipodystrophy type 2 congenital generalized lipodystrophy type 3 congenital generalized lipodystrophy type 4 congenital generalized lipodystrophy congestive heart failure connective tissue disease coronary artery disease coronary thrombosis cribriform carcinoma degeneration of macula and posterior pole depressive disorder developmental coordination disorder diabetes mellitus diabetic cataract diabetic ketoacidosis diabetic retinopathy dilated cardiomyopathy 1A dilated cardiomyopathy disease of metabolism dysthymic disorder embryoma endometrial hyperplasia endomyocardial fibrosis epithelioid leiomyosarcoma exudative vitreoretinopathy 1 exudative vitreoretinopathy eye disease familial combined hyperlipidemia familial hyperlipidemia familial lipoprotein lipase deficiency familial periodic paralysis familial retinoblastoma fibromyalgia fundus albipunctatus gestational diabetes gliosarcoma glomus tumor glucose intolerance glycogen storage disease II granular cell carcinoma heart disease hemangioma hepatoblastoma hepatocellular carcinoma high grade glioma histiocytoid hemangioma hyperinsulinism hyperlipoproteinemia type V hypertrophic cardiomyopathy ichthyosis impotence intramuscular hemangioma isolated elevated serum creatine phosphokinase levels keratosis follicularis large intestine cancer leiomyosarcoma leukostasis lipoatrophic diabetes mellitus lipodystrophy liposarcoma liver cancer lung benign neoplasm lung cancer lung carcinoma lymphangioma macular degeneration major depressive disorder melancholic depression melanoma microphthalmia mixed glioma mongolian spot myocardial infarction myopathy myositis myxoid leiomyosarcoma nasopharynx carcinoma nephroblastoma neuropathy neurotic disorder nicotine dependence obesity obsolete Matthew-Wood syndrome obsolete congenital ichthyosiform erythroderma obsolete melancholia ocular melanoma 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 pancreatic ductal adenocarcinoma peripheral nervous system disease pleomorphic liposarcoma polycystic ovary syndrome prediabetes syndrome premature ejaculation primary ciliary dyskinesia 1 primary ciliary dyskinesia proliferative diabetic retinopathy prostate cancer prostate carcinoma pseudoxanthoma elasticum psychologic dyspareunia rectal benign neoplasm rectum adenocarcinoma rectum cancer retinal disease retinitis pigmentosa retinitis retinoblastoma retinopathy of prematurity rhabdomyosarcoma rheumatoid arthritis schizophrenia sensorineural hearing loss silent myocardial infarction skin melanoma steatotic liver disease stomach cancer stomach carcinoma systemic primary carnitine deficiency disease trilateral retinoblastoma tubular adenocarcinoma type 2 diabetes mellitus urinary bladder cancer
O00400	Acetyl-coenzyme A transporter 1	SLC33A1 ACATN AT1	1	0	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 Bartter disease Charcot-Marie-Tooth disease type 5 Conn's syndrome Henoch-Schoenlein purpura MASA syndrome Marfan syndrome Mast syndrome Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Pick's disease Reye syndrome SPOAN syndrome Troyer syndrome Waterhouse-Friderichsen syndrome abdominal aortic aneurysm abdominal obesity-metabolic syndrome 1 acute myocardial infarction adenocarcinoma adenoma adrenal gland cancer allergic asthma amyotrophic lateral sclerosis type 1 amyotrophic lateral sclerosis anxiety disorder arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease asthma atherosclerosis atrial fibrillation autism spectrum disorder autistic disorder bestrophinopathy brain disease brain ischemia brain stem infarction breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer cardiomyopathy cardiovascular system disease cataract 1 multiple types cataract 10 multiple types cataract 11 multiple types cataract 12 multiple types cataract 13 with adult i phenotype cataract 14 multiple types cataract 15 multiple types cataract 16 multiple types cataract 17 multiple types cataract 18 cataract 19 multiple types cataract 2 multiple types cataract 20 multiple types cataract 21 multiple types cataract 22 multiple types cataract 23 cataract 24 cataract 25 cataract 26 multiple types cataract 27 cataract 29 cataract 3 multiple types cataract 30 cataract 31 multiple types cataract 32 multiple types cataract 33 cataract 34 multiple types cataract 35 cataract 37 cataract 38 cataract 39 multiple types cataract 4 multiple types cataract 40 cataract 41 cataract 42 cataract 43 cataract 44 cataract 45 cataract 46 juvenile-onset cataract 5 multiple types cataract 6 multiple types cataract 7 cataract 8 multiple types cataract 9 multiple types cataract cerebral artery occlusion cerebral degeneration cerebral infarction cerebrovascular disease chronic kidney disease colitis colorectal cancer colorectal carcinoma congenital nystagmus congestive heart failure coronary artery disease coronary thrombosis cribriform carcinoma deafness-dystonia-optic neuronopathy syndrome dementia depressive disorder diabetes mellitus diabetic ketoacidosis dissociated nystagmus dysthymic disorder embryoma endometriosis of uterus endometriosis endomyocardial fibrosis epilepsy epithelioid leiomyosarcoma essential hypertension familial hypertrophic cardiomyopathy focal epilepsy follicular adenoma gastroenteritis generalized anxiety disorder glomerulonephritis granular cell carcinoma heart disease hepatoblastoma hepatocellular carcinoma 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 hyperhomocysteinemia hypersensitivity vasculitis hypertension hypertensive heart disease hypertrophic cardiomyopathy ileitis ileocolitis intellectual disability intrinsic asthma kidney disease large intestine cancer learning disability leiomyosarcoma liver cancer liver cirrhosis lung benign neoplasm lung cancer lung carcinoma major depressive disorder malignant hypertension melancholic depression melanoma microcystic adenoma myocardial infarction myxoid leiomyosarcoma nephritis nephrosis neurodegenerative disease neurotic disorder nodular prostate nutmeg liver obesity obsolete melancholia obstructive sleep apnea papillary adenoma paraplegia partial motor epilepsy pathologic nystagmus periodontitis phobic disorder placental insufficiency polycystic ovary syndrome primary hyperaldosteronism progressive muscular atrophy prostate cancer prostate carcinoma prostatic adenoma pyoureter renovascular hypertension scleroderma secondary hypertension sensorineural hearing loss sensory peripheral neuropathy sick sinus syndrome silent myocardial infarction situs inversus skin melanoma spontaneous ocular nystagmus systemic scleroderma trichohepatoenteric syndrome 1 trichohepatoenteric syndrome tuberous sclerosis tubular adenocarcinoma type 2 diabetes mellitus vesicoureteral reflux visual epilepsy
P18054	Polyunsaturated fatty acid lipoxygenase ALOX12	ALOX12 12LO LOG12	1	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 Becker muscular dystrophy Duchenne muscular dystrophy Pick's disease Reye syndrome actinic keratosis acute myeloid leukemia acute myocardial infarction adenocarcinoma adenoma adult lymphoma amyloidosis arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis autosomal dominant limb-girdle muscular dystrophy type 1 autosomal dominant limb-girdle muscular dystrophy type 1H autosomal dominant limb-girdle muscular dystrophy type 2 autosomal dominant limb-girdle muscular dystrophy type 3 autosomal dominant limb-girdle muscular dystrophy autosomal recessive limb-girdle muscular dystrophy type 2A autosomal recessive limb-girdle muscular dystrophy type 2B autosomal recessive limb-girdle muscular dystrophy type 2C autosomal recessive limb-girdle muscular dystrophy type 2D autosomal recessive limb-girdle muscular dystrophy type 2E autosomal recessive limb-girdle muscular dystrophy type 2F autosomal recessive limb-girdle muscular dystrophy type 2G autosomal recessive limb-girdle muscular dystrophy type 2H autosomal recessive limb-girdle muscular dystrophy type 2I autosomal recessive limb-girdle muscular dystrophy type 2J autosomal recessive limb-girdle muscular dystrophy type 2K autosomal recessive limb-girdle muscular dystrophy type 2L autosomal recessive limb-girdle muscular dystrophy type 2M autosomal recessive limb-girdle muscular dystrophy type 2N autosomal recessive limb-girdle muscular dystrophy type 2O autosomal recessive limb-girdle muscular dystrophy type 2P autosomal recessive limb-girdle muscular dystrophy type 2Q autosomal recessive limb-girdle muscular dystrophy type 2S autosomal recessive limb-girdle muscular dystrophy type 2T autosomal recessive limb-girdle muscular dystrophy type 2U autosomal recessive limb-girdle muscular dystrophy type 2Y autosomal recessive limb-girdle muscular dystrophy bacterial sepsis benign mesothelioma bipolar disorder bone marrow cancer breast cancer breast carcinoma cancer cardiovascular system disease central nervous system lymphoma cerebral degeneration cerebral infarction cerebrovascular disease childhood lymphoma chromophobe renal cell carcinoma clear cell renal cell carcinoma colitis collecting duct carcinoma colorectal cancer colorectal carcinoma cone-rod dystrophy 2 cone-rod dystrophy congenital toxoplasmosis congestive heart failure coronary artery disease coronary thrombosis cribriform carcinoma diabetes mellitus diabetic ketoacidosis distal myopathy embryoma endomyocardial fibrosis esophagus squamous cell carcinoma essential hypertension facioscapulohumeral muscular dystrophy follicular adenoma gastroenteritis glomerulonephritis granular cell carcinoma heart disease hepatocellular carcinoma hypertension ileitis ileocolitis juvenile rheumatoid arthritis kidney disease kidney hypertrophy large intestine cancer leech infestation limb-girdle muscular dystrophy liver cancer lymphoma malignant mesothelioma melanoma microcystic adenoma muscular dystrophy myeloproliferative neoplasm myiasis myocardial infarction nephritis nephrosis neuroblastoma neurodegenerative disease neuropathy nodular prostate 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 obsolete ymphosarcoma oculopharyngeal muscular dystrophy osteoporosis ovarian cancer ovarian carcinoma papillary adenoma papillary renal cell carcinoma parapsoriasis peripheral nervous system disease pneumonia post-traumatic stress disorder prostate cancer prostate carcinoma prostatic adenoma psoriasis pustulosis of palm and sole pyoureter rectal benign neoplasm rectum adenocarcinoma rectum cancer renal carcinoma renal cell carcinoma retinal disease retinitis rheumatoid arthritis sarcomatoid renal cell carcinoma schizophrenia seborrheic keratosis silent myocardial infarction skin benign neoplasm skin cancer skin disease skin melanoma squamous cell carcinoma steatotic liver disease stomach cancer stomach carcinoma testicular cancer thyroid adenoma thyroid cancer thyroid gland carcinoma tongue squamous cell carcinoma toxoplasmosis tuberculosis tubular adenocarcinoma type 1 diabetes mellitus 10 type 1 diabetes mellitus 11 type 1 diabetes mellitus 12 type 1 diabetes mellitus 13 type 1 diabetes mellitus 15 type 1 diabetes mellitus 17 type 1 diabetes mellitus 18 type 1 diabetes mellitus 19 type 1 diabetes mellitus 20 type 1 diabetes mellitus 21 type 1 diabetes mellitus 22 type 1 diabetes mellitus 23 type 1 diabetes mellitus 24 type 1 diabetes mellitus 2 type 1 diabetes mellitus 3 type 1 diabetes mellitus 4 type 1 diabetes mellitus 5 type 1 diabetes mellitus 6 type 1 diabetes mellitus 7 type 1 diabetes mellitus 8 type 1 diabetes mellitus type 2 diabetes mellitus urinary bladder cancer vitelliform macular dystrophy vitiligo
P11717	Cation-independent mannose-6-phosphate receptor	IGF2R MPRI	35	109	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 Beckwith-Wiedemann syndrome CLOVES syndrome Clouston syndrome Creutzfeldt-Jakob disease Duchenne muscular dystrophy Fanconi syndrome Kaposi's sarcoma Krabbe disease Lewy body dementia Lynch syndrome Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Perlman syndrome Pick's disease Reye syndrome Sotos syndrome Sveinsson chorioretinal atrophy abdominal obesity-metabolic syndrome 1 acquired immunodeficiency syndrome acute myocardial infarction adenocarcinoma adenoma adenosarcoma adrenal carcinoma adrenal cortex cancer adrenocortical carcinoma amyotrophic lateral sclerosis androgen insensitivity syndrome arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis bile duct adenocarcinoma bile duct carcinoma bladder carcinoma bone osteosarcoma brain cancer breast cancer breast carcinoma bronchus cancer bronchus carcinoma campomelic dysplasia cancer cardiomyopathy cardiovascular system disease cavernous hemangioma cerebral degeneration cervical adenocarcinoma cervical cancer cervix carcinoma childhood acute lymphocytic leukemia childhood osteosarcoma cholangiocarcinoma chorioangioma choroid plexus papilloma chronic kidney disease cognitive disorder colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma congenital diaphragmatic hernia congestive heart failure coronary artery disease coronary thrombosis craniometaphyseal dysplasia cribriform carcinoma cystinuria dermatophytosis diabetes mellitus diabetic ketoacidosis dysplastic nevus syndrome embryoma endometrial cancer endometrial carcinoma endomyocardial fibrosis familial retinoblastoma follicular adenoma fragile X-associated tremor/ataxia syndrome fungal infectious disease galactosemia gallbladder disease gastrointestinal system cancer glomus tumor glucosephosphate dehydrogenase deficiency glycogen storage disease II glycogen storage disease Ia glycogen storage disease glycoproteinosis granular cell carcinoma head and neck cancer head and neck squamous cell carcinoma heart disease hemangioma hepatitis B hepatocellular carcinoma histiocytoid hemangioma human immunodeficiency virus infectious disease hypertrophic cardiomyopathy intrahepatic cholangiocarcinoma intramuscular hemangioma large intestine cancer liver cancer liver carcinoma liver cirrhosis liver disease lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung disease lung non-small cell carcinoma lung squamous cell carcinoma lymphangioma lysosomal storage disease melanoma meningoencephalitis microcystic adenoma mucolipidosis II alpha/beta multiple myeloma muscular dystrophy myocardial infarction nephroblastoma obsolete type 1 diabetes mellitus 9 osteosarcoma ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma papillary adenoma peripheral vascular disease placental insufficiency pneumonia polyneuropathy premature menopause primary ovarian insufficiency progressive muscular atrophy prostate cancer prostate carcinoma retinoblastoma silent myocardial infarction skin melanoma spondyloepimetaphyseal dysplasia, Sponastrime type squamous cell carcinoma stomach cancer stomach carcinoma thyroid adenoma thyroid cancer thyroid gland carcinoma tongue squamous cell carcinoma trilateral retinoblastoma tubular adenocarcinoma type 1 diabetes mellitus 10 type 1 diabetes mellitus 11 type 1 diabetes mellitus 12 type 1 diabetes mellitus 13 type 1 diabetes mellitus 15 type 1 diabetes mellitus 17 type 1 diabetes mellitus 18 type 1 diabetes mellitus 19 type 1 diabetes mellitus 20 type 1 diabetes mellitus 21 type 1 diabetes mellitus 22 type 1 diabetes mellitus 23 type 1 diabetes mellitus 24 type 1 diabetes mellitus 2 type 1 diabetes mellitus 3 type 1 diabetes mellitus 4 type 1 diabetes mellitus 5 type 1 diabetes mellitus 6 type 1 diabetes mellitus 7 type 1 diabetes mellitus 8 type 1 diabetes mellitus type 2 diabetes mellitus urinary bladder cancer uterine corpus cancer viral infectious disease
Q01638	Interleukin-1 receptor-like 1	IL1RL1 DER4 ST2 T1	8	11	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 Beckwith-Wiedemann syndrome CLOVES syndrome Cri-Du-Chat syndrome Crohn's colitis Crohn's disease Down syndrome Duchenne muscular dystrophy Graves' disease Japanese encephalitis Loeffler syndrome Perlman syndrome Pick's disease Reye syndrome Richter's syndrome Sotos syndrome Wolf-Hirschhorn syndrome acute leukemia acute lymphoblastic leukemia acute myeloid leukemia adult acute lymphocytic leukemia adult lymphoma allergic asthma allergic disease allergic rhinitis arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease asthma atherosclerosis atopic dermatitis autoimmune disease autoimmune lymphoproliferative syndrome autoimmune thyroiditis bacterial sepsis bronchiolitis bronchus cancer bronchus carcinoma cancer cardiomyopathy cardiovascular system disease central nervous system lymphoma cerebral degeneration cerebral infarction cerebrovascular disease childhood acute lymphocytic leukemia childhood leukemia childhood lymphoma chorioamnionitis choroideremia chronic ethmoiditis chronic lymphocytic leukemia chronic obstructive pulmonary disease chronic sphenoidal sinusitis colorectal cancer colorectal carcinoma congestive heart failure coronary artery disease craniosynostosis dengue disease dengue hemorrhagic fever dermatitis diabetic ketoacidosis diarrhea dilated cardiomyopathy 1A dilated cardiomyopathy endomyocardial fibrosis eosinophilic esophagitis eosinophilic pneumonia essential hypertension heart disease hepatitis B hepatoblastoma hepatocellular carcinoma hypereosinophilic syndrome hypertension hyperthyroidism hypertrophic cardiomyopathy idiopathic interstitial pneumonia immune system disease infantile histiocytoid cardiomyopathy inflammatory bowel disease 1 inflammatory bowel disease intestinal schistosomiasis intrinsic asthma large intestine cancer leprosy leukemia lung benign neoplasm lung cancer lung carcinoma lung disease lymphoma multiple myeloma muscular dystrophy nutmeg liver obsolete type 1 diabetes mellitus 9 obsolete ymphosarcoma pancreatic adenocarcinoma parasitic helminthiasis infectious disease peripheral artery disease postinflammatory pulmonary fibrosis pulmonary eosinophilia pulmonary fibrosis stomach cancer stomach carcinoma temporal arteritis thyrotoxicosis 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 ulcerative colitis ureteral obstruction vasomotor rhinitis viral infectious disease yellow fever
Q9BXN2	C-type lectin domain family 7 member A	CLEC7A BGR CLECSF12 DECTIN1	3	2	Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease Behcet's disease Bloch-Sulzberger syndrome Kawasaki disease Meier-Gorlin syndrome 1 Meier-Gorlin syndrome Pick's disease Reye syndrome acquired hyperkeratosis acute myeloid leukemia adult-onset Still's disease allergic asthma amyloidosis angular cheilitis arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy aspergillosis asthma atherosclerosis atopic dermatitis autism spectrum disorder autistic disorder autoimmune disease autoimmune lymphoproliferative syndrome autoimmune polyendocrine syndrome type 1 autoimmune polyendocrine syndrome bacterial infectious disease bacterial sepsis black piedra blastomycosis cancer candidiasis cerebral degeneration cheilitis cholesteatoma chromoblastomycosis chronic mucocutaneous candidiasis chronic obstructive pulmonary disease chronic ulcer of skin coccidioidomycosis colitis congenital intrinsic factor deficiency coronary artery disease cryptococcosis cutaneous leishmaniasis cystic fibrosis dermatitis dermatomycosis dermatophytosis diverticulitis embryoma epilepsy exanthem fungal infectious disease gastroenteritis granuloma annulare hepatitis B hepatitis hepatocellular carcinoma histoplasmosis hypomelanosis of Ito ileitis ileocolitis immune system disease inflammatory bowel disease 1 inflammatory bowel disease influenza intrinsic asthma keratitis keratoconjunctivitis lip disease liver cancer liver carcinoma liver cirrhosis lupus nephritis male infertility mycotic corneal ulcer nutmeg liver obesity oral candidiasis osteoarthritis pancreatic cancer pancreatic carcinoma paracoccidioidomycosis parapsoriasis parasitic helminthiasis infectious disease patent ductus arteriosus pneumocystosis pneumonia polyp of middle ear psoriasis pustulosis of palm and sole rheumatoid arthritis shigellosis sporotrichosis superficial mycosis systemic lupus erythematosus tinea favosa tuberculosis ulcerative colitis urinary tract obstruction vasculitis visual epilepsy vulvovaginal candidiasis white piedra
P06733	Alpha-enolase	ENO1 ENO1L1 MBPB1 MPB1	4	6	Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease Behcet's disease Burkitt lymphoma Creutzfeldt-Jakob disease Duchenne muscular dystrophy EEC syndrome Fanconi anemia IgG4-related disease Lyme disease Pick's disease Reye syndrome Richter's syndrome acquired immunodeficiency syndrome acrodysostosis acute intermittent porphyria acute interstitial pneumonia acute myocardial infarction adenocarcinoma adenoma allergic asthma anemia anxiety disorder aphthous stomatitis arthritis arthropathy asthma atopic dermatitis autoimmune disease autoimmune lymphoproliferative syndrome autoimmune pancreatitis autosomal dominant Emery-Dreifuss muscular dystrophy 2 autosomal dominant limb-girdle muscular dystrophy type 1 autosomal dominant limb-girdle muscular dystrophy type 1H autosomal dominant limb-girdle muscular dystrophy type 2 autosomal dominant limb-girdle muscular dystrophy type 3 autosomal dominant limb-girdle muscular dystrophy autosomal recessive limb-girdle muscular dystrophy type 2A autosomal recessive limb-girdle muscular dystrophy type 2B autosomal recessive limb-girdle muscular dystrophy type 2C autosomal recessive limb-girdle muscular dystrophy type 2D autosomal recessive limb-girdle muscular dystrophy type 2E autosomal recessive limb-girdle muscular dystrophy type 2F autosomal recessive limb-girdle muscular dystrophy type 2G autosomal recessive limb-girdle muscular dystrophy type 2H autosomal recessive limb-girdle muscular dystrophy type 2I autosomal recessive limb-girdle muscular dystrophy type 2J autosomal recessive limb-girdle muscular dystrophy type 2K autosomal recessive limb-girdle muscular dystrophy type 2L autosomal recessive limb-girdle muscular dystrophy type 2M autosomal recessive limb-girdle muscular dystrophy type 2N autosomal recessive limb-girdle muscular dystrophy type 2O autosomal recessive limb-girdle muscular dystrophy type 2P autosomal recessive limb-girdle muscular dystrophy type 2Q autosomal recessive limb-girdle muscular dystrophy type 2S autosomal recessive limb-girdle muscular dystrophy type 2T autosomal recessive limb-girdle muscular dystrophy type 2U autosomal recessive limb-girdle muscular dystrophy type 2Y autosomal recessive limb-girdle muscular dystrophy bacterial infectious disease bile duct adenocarcinoma bile duct carcinoma bladder carcinoma blood coagulation disease brain stem infarction breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer candidiasis carcinoma cardiovascular system disease central nervous system cancer cerebral artery occlusion cerebral degeneration cerebral infarction cerebrovascular disease cholangiocarcinoma cholera chromophobe renal cell carcinoma chronic kidney disease chronic lymphocytic leukemia clear cell renal cell carcinoma collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma common wart congenital heart disease congenital muscular dystrophy corneal disease coronary thrombosis cribriform carcinoma dermatitis diabetes mellitus diabetic ketoacidosis dilated cardiomyopathy 1A dilated cardiomyopathy distal arthrogryposis distal myopathy ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 embryoma endocarditis endometrial cancer endometrial carcinoma endometriosis of uterus endometriosis esophageal cancer esophageal carcinoma essential hypertension exanthem eye disease facioscapulohumeral muscular dystrophy familial retinoblastoma fibromyalgia gastric adenocarcinoma generalized anxiety disorder giant cell glioblastoma glioblastoma gliosarcoma glomerulonephritis granular cell carcinoma head and neck cancer head and neck squamous cell carcinoma heart disease hemorrhoid hepatitis B hepatocellular carcinoma high grade glioma human immunodeficiency virus infectious disease hyperglycemia hypertension hypoglycemia idiopathic interstitial pneumonia immune system disease infective endocarditis inflammatory bowel disease 1 inflammatory bowel disease influenza intestinal volvulus intrahepatic cholangiocarcinoma intrinsic asthma invasive ductal carcinoma keratoconus kidney disease large intestine cancer leiomyoma limb-girdle muscular dystrophy liver cancer liver carcinoma liver cirrhosis lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung disease lung non-small cell carcinoma lung squamous cell carcinoma lupus nephritis macrocytic anemia male infertility membranous glomerulonephritis microphthalmia middle cerebral artery infarction mixed glioma multiple myeloma multiple sclerosis muscular dystrophy myocardial infarction myofibrillar myopathy 1 myofibrillar myopathy 3 myofibroma nasopharynx carcinoma nephritis nephrolithiasis nephrosis neuroblastoma nonpapillary renal cell carcinoma obsolete Matthew-Wood syndrome obsolete autosomal dominant limb-girdle muscular dystrophy type 1A obsolete autosomal dominant limb-girdle muscular dystrophy type 1B obsolete autosomal dominant limb-girdle muscular dystrophy type 1C obsolete autosomal recessive limb-girdle muscular dystrophy type 2R obsolete inherited blood coagulation disease oculopharyngeal muscular dystrophy oral submucous fibrosis osteoarthritis osteoporosis pancreatic cancer pancreatic carcinoma pancreatic ductal adenocarcinoma papillary renal cell carcinoma patent ductus arteriosus perinatal necrotizing enterocolitis periodontitis phobic disorder primary pulmonary hypertension prostate cancer prostate carcinoma pulmonary hypertension pyoureter reflex sympathetic dystrophy renal carcinoma renal cell carcinoma retinoblastoma rheumatoid arthritis rippling muscle disease 2 sarcomatoid carcinoma sarcomatoid renal cell carcinoma silent myocardial infarction spondyloarthropathy spondylosis squamous cell carcinoma stomach cancer stomach carcinoma subacute bacterial endocarditis substance abuse substance-related disorder systemic lupus erythematosus tongue squamous cell carcinoma trilateral retinoblastoma tuberculosis tubular adenocarcinoma type 2 diabetes mellitus ulcerative colitis uric acid nephrolithiasis urinary bladder cancer uterine corpus cancer uterine fibroid vasculitis

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