GlyCosmos Portal

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UniProt ID	Protein Name	Gene Symbol	No. of Glycosylation Sites	No. of GlyTouCan IDs	Disease Ontology ▲
Q8NCC3	Lysosomal phospholipase A and acyltransferase	PLA2G15 LYPLA3	4	23	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 Crohn's colitis Crohn's disease Ewing sarcoma Klippel-Feil syndrome Marfan syndrome McCune Albright syndrome Pick's disease Reye syndrome Stevens-Johnson syndrome abdominal aortic aneurysm acquired immunodeficiency syndrome acute chest syndrome acute lymphoblastic leukemia acute myocardial infarction adult acute lymphocytic leukemia aortic valve insufficiency appendicitis arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthropathy atherosclerosis atrial fibrillation bacterial sepsis breast cancer breast carcinoma cancer cardiac arrest cardiovascular system disease cerebral degeneration cerebral infarction cerebrovascular disease childhood acute lymphocytic leukemia cholecystolithiasis choledocholithiasis cholelithiasis chromophobe renal cell carcinoma chronic kidney disease chronic obstructive pulmonary disease ciliary body disease clear cell renal cell carcinoma collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma congenital diaphragmatic hernia congestive heart failure coronary aneurysm coronary artery disease coronary thrombosis decubitus ulcer depressive disorder diabetes insipidus diabetes mellitus diabetic ketoacidosis disease of mental health distal arthrogryposis dysthymic disorder embryoma endometrial cancer endometrial carcinoma epithelioid sarcoma erythema multiforme esophageal cancer esophageal carcinoma esophageal disease essential hypertension familial adenomatous polyposis familial hypercholesterolemia gastroschisis head and neck cancer heart disease hepatocellular carcinoma hiatus hernia human immunodeficiency virus infectious disease hypertension hypospadias impotence inflammatory bowel disease 1 inflammatory bowel disease insulinoma iris disease islet cell tumor kidney failure large intestine cancer laryngeal benign neoplasm laryngeal carcinoma larynx cancer liver cancer major depressive disorder melancholic depression myocardial infarction neuroendocrine carcinoma neuroendocrine tumor neurohypophyseal diabetes insipidus neurotic disorder nodular prostate nonpapillary renal cell carcinoma nutmeg liver obesity obsolete melancholia obstructive sleep apnea omphalocele pancreatic adenocarcinoma pancreatic cancer panuveitis papillary renal cell carcinoma peripheral artery disease pneumonia premature ejaculation prostate cancer prostate carcinoma prostatic adenoma psychologic dyspareunia psychotic disorder rectal benign neoplasm rectum adenocarcinoma rectum cancer renal carcinoma renal cell carcinoma retroperitoneal sarcoma sarcomatoid renal cell carcinoma schizophrenia septic arthritis silent myocardial infarction situs inversus spinal cancer spindle cell sarcoma spondylolisthesis stomach disease subacute delirium substance abuse substance-related disorder synovitis tenosynovitis thrombophilia thrombotic thrombocytopenic purpura tuberous sclerosis type 2 diabetes mellitus ulcerative colitis umbilical hernia uremia urinary system benign neoplasm urinary system cancer uterine corpus cancer uveitis
P06858	Lipoprotein lipase	LPL LIPD	3	26	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 Crohn's colitis Crohn's disease Fabry disease Fanconi anemia complementation group A Fanconi anemia Friedreich ataxia 1 Friedreich ataxia Gilbert syndrome Hodgkin's granuloma Hodgkin's lymphoma, lymphocytic depletion Hodgkin's lymphoma, lymphocytic-histiocytic predominance Hodgkin's lymphoma, mixed cellularity Hodgkin's lymphoma Huntington's disease-like 1 Huntington's disease-like 2 Huntington's disease Norum disease Pick's disease Reye syndrome Richter's syndrome Tangier disease Wolman disease X-linked dilated cardiomyopathy Zollinger-Ellison syndrome abdominal obesity-metabolic syndrome 1 abetalipoproteinemia acne acromegaly acute chest syndrome acute lymphoblastic leukemia acute myocardial infarction acute pancreatitis adenocarcinoma adenoma age related macular degeneration alcoholic pancreatitis aortic atherosclerosis arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis autosomal recessive hypercholesterolemia bilirubin metabolic disorder bone osteosarcoma brain infarction brain stem infarction breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma cardiomyopathy cardiovascular system disease carotid artery thrombosis carotid stenosis celiac disease central nervous system cancer cerebral artery occlusion cerebral degeneration cerebral infarction cerebrovascular disease childhood osteosarcoma cholesterol-ester transfer protein deficiency choreaacanthocytosis chronic kidney disease chronic lymphocytic leukemia chylomicron retention disease colon cancer colonic benign neoplasm colorectal cancer congenital generalized lipodystrophy type 1 congenital generalized lipodystrophy type 2 congenital generalized lipodystrophy type 3 congenital generalized lipodystrophy type 4 congestive heart failure coronary artery disease coronary stenosis coronary thrombosis cribriform carcinoma cystic lymphangioma cystinuria degeneration of macula and posterior pole dementia diabetes mellitus diabetic ketoacidosis diffuse large B-cell lymphoma dilated cardiomyopathy 1AA dilated cardiomyopathy 1B dilated cardiomyopathy 1BB dilated cardiomyopathy 1C dilated cardiomyopathy 1CC dilated cardiomyopathy 1D dilated cardiomyopathy 1DD dilated cardiomyopathy 1E dilated cardiomyopathy 1EE dilated cardiomyopathy 1FF dilated cardiomyopathy 1G dilated cardiomyopathy 1GG dilated cardiomyopathy 1H dilated cardiomyopathy 1HH dilated cardiomyopathy 1I dilated cardiomyopathy 1II dilated cardiomyopathy 1JJ dilated cardiomyopathy 1K dilated cardiomyopathy 1KK dilated cardiomyopathy 1L dilated cardiomyopathy 1M dilated cardiomyopathy 1NN dilated cardiomyopathy 1O dilated cardiomyopathy 1P dilated cardiomyopathy 1Q dilated cardiomyopathy 1R dilated cardiomyopathy 1S dilated cardiomyopathy 1T dilated cardiomyopathy 1U dilated cardiomyopathy 1V dilated cardiomyopathy 1W dilated cardiomyopathy 1X dilated cardiomyopathy 1Y dilated cardiomyopathy 1Z dilated cardiomyopathy 2A dilated cardiomyopathy 2B dilated cardiomyopathy disease of metabolism eclampsia embryoma embryonal cancer endometrial cancer endometrial carcinoma endomyocardial fibrosis epilepsy essential hypertension extramedullary plasmacytoma familial apolipoprotein A5 deficiency familial apolipoprotein C-II deficiency familial combined hyperlipidemia familial hypercholesterolemia familial hyperlipidemia familial lipase maturation factor 1 deficiency familial lipoprotein lipase deficiency familial partial lipodystrophy type 2 familial partial lipodystrophy focal segmental glomerulosclerosis follicular lymphoma galactosemia germ cell and embryonal cancer germ cell cancer germinoma gestational diabetes gliosarcoma glucose intolerance glucosephosphate dehydrogenase deficiency glycogen storage disease Ia glycogen storage disease granular cell carcinoma heart disease hematologic cancer hepatitis C hepatocellular carcinoma high grade glioma hyperalphalipoproteinemia 1 hyperglycemia hyperinsulinism hyperlipoproteinemia type III hyperlipoproteinemia type IV hyperlipoproteinemia type V hyperpituitarism hyperprolactinemia hypertension hypertrophic cardiomyopathy hypoglycemia hypolipoproteinemia impotence inflammatory bowel disease 1 inflammatory bowel disease isolated growth hormone deficiency large intestine cancer lipid storage disease lipoatrophic diabetes mellitus lipodystrophy liver cancer lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lung small cell carcinoma lymphoblastic lymphoma lymphoplasmacytic lymphoma macroglobulinemia macular degeneration maple syrup urine disease mastitis metabolic dysfunction-associated steatotic liver disease mixed glioma monoclonal gammopathy of uncertain significance morbid obesity multiple myeloma multiple sclerosis myocardial infarction myotonic dystrophy type 1 myotonic dystrophy type 2 neurodegenerative disease nodular prostate nutmeg liver obesity obsolete familial hypertriglyceridemia obsolete lymphoplasmacytic lymphoma obsolete type 1 diabetes mellitus 9 osteosarcoma ovarian hyperstimulation syndrome overnutrition pancreatitis peripheral artery disease placental insufficiency plasma cell neoplasm plasmacytoma polycystic ovary syndrome polycythemia vera pre-eclampsia prediabetes syndrome premature ejaculation prostate cancer prostate carcinoma prostatic adenoma psychologic dyspareunia sarcomatoid carcinoma schizophrenia silent myocardial infarction steatotic liver disease thrombophilia trichohepatoenteric syndrome 1 trichohepatoenteric syndrome 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 ulcerative colitis uterine corpus cancer vascular disease visceral leishmaniasis
Q99798	Aconitate hydratase, mitochondrial	ACO2	3	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 Crohn's colitis Crohn's disease Foster-Kennedy syndrome Friedreich ataxia 1 Friedreich ataxia 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 X-linked nonsyndromic deafness achromatopsia acquired color blindness adult respiratory distress syndrome autosomal dominant auditory neuropathy 1 autosomal dominant nonsyndromic deafness 10 autosomal dominant nonsyndromic deafness 11 autosomal dominant nonsyndromic deafness 12 autosomal dominant nonsyndromic deafness 13 autosomal dominant nonsyndromic deafness 15 autosomal dominant nonsyndromic deafness 16 autosomal dominant nonsyndromic deafness 17 autosomal dominant nonsyndromic deafness 18 autosomal dominant nonsyndromic deafness 1 autosomal dominant nonsyndromic deafness 20 autosomal dominant nonsyndromic deafness 21 autosomal dominant nonsyndromic deafness 22 autosomal dominant nonsyndromic deafness 23 autosomal dominant nonsyndromic deafness 24 autosomal dominant nonsyndromic deafness 25 autosomal dominant nonsyndromic deafness 27 autosomal dominant nonsyndromic deafness 28 autosomal dominant nonsyndromic deafness 2A autosomal dominant nonsyndromic deafness 2B autosomal dominant nonsyndromic deafness 30 autosomal dominant nonsyndromic deafness 31 autosomal dominant nonsyndromic deafness 33 autosomal dominant nonsyndromic deafness 36 autosomal dominant nonsyndromic deafness 3A autosomal dominant nonsyndromic deafness 3B autosomal dominant nonsyndromic deafness 40 autosomal dominant nonsyndromic deafness 41 autosomal dominant nonsyndromic deafness 43 autosomal dominant nonsyndromic deafness 44 autosomal dominant nonsyndromic deafness 47 autosomal dominant nonsyndromic deafness 48 autosomal dominant nonsyndromic deafness 49 autosomal dominant nonsyndromic deafness 4A autosomal dominant nonsyndromic deafness 4B autosomal dominant nonsyndromic deafness 50 autosomal dominant nonsyndromic deafness 51 autosomal dominant nonsyndromic deafness 52 autosomal dominant nonsyndromic deafness 53 autosomal dominant nonsyndromic deafness 54 autosomal dominant nonsyndromic deafness 56 autosomal dominant nonsyndromic deafness 58 autosomal dominant nonsyndromic deafness 59 autosomal dominant nonsyndromic deafness 5 autosomal dominant nonsyndromic deafness 64 autosomal dominant nonsyndromic deafness 65 autosomal dominant nonsyndromic deafness 66 autosomal dominant nonsyndromic deafness 67 autosomal dominant nonsyndromic deafness 68 autosomal dominant nonsyndromic deafness 69 autosomal dominant nonsyndromic deafness 6 autosomal dominant nonsyndromic deafness 70 autosomal dominant nonsyndromic deafness 7 autosomal dominant nonsyndromic deafness 9 autosomal dominant nonsyndromic deafness autosomal recessive nonsyndromic deafness 101 autosomal recessive nonsyndromic deafness 102 autosomal recessive nonsyndromic deafness 103 autosomal recessive nonsyndromic deafness 104 autosomal recessive nonsyndromic deafness 12 autosomal recessive nonsyndromic deafness 13 autosomal recessive nonsyndromic deafness 14 autosomal recessive nonsyndromic deafness 15 autosomal recessive nonsyndromic deafness 16 autosomal recessive nonsyndromic deafness 17 autosomal recessive nonsyndromic deafness 18A autosomal recessive nonsyndromic deafness 18B autosomal recessive nonsyndromic deafness 1A autosomal recessive nonsyndromic deafness 1B autosomal recessive nonsyndromic deafness 20 autosomal recessive nonsyndromic deafness 21 autosomal recessive nonsyndromic deafness 22 autosomal recessive nonsyndromic deafness 23 autosomal recessive nonsyndromic deafness 24 autosomal recessive nonsyndromic deafness 25 autosomal recessive nonsyndromic deafness 26 autosomal recessive nonsyndromic deafness 27 autosomal recessive nonsyndromic deafness 28 autosomal recessive nonsyndromic deafness 29 autosomal recessive nonsyndromic deafness 2 autosomal recessive nonsyndromic deafness 30 autosomal recessive nonsyndromic deafness 31 autosomal recessive nonsyndromic deafness 32 autosomal recessive nonsyndromic deafness 33 autosomal recessive nonsyndromic deafness 35 autosomal recessive nonsyndromic deafness 36 autosomal recessive nonsyndromic deafness 37 autosomal recessive nonsyndromic deafness 38 autosomal recessive nonsyndromic deafness 39 autosomal recessive nonsyndromic deafness 3 autosomal recessive nonsyndromic deafness 40 autosomal recessive nonsyndromic deafness 42 autosomal recessive nonsyndromic deafness 44 autosomal recessive nonsyndromic deafness 45 autosomal recessive nonsyndromic deafness 46 autosomal recessive nonsyndromic deafness 47 autosomal recessive nonsyndromic deafness 48 autosomal recessive nonsyndromic deafness 49 autosomal recessive nonsyndromic deafness 4 autosomal recessive nonsyndromic deafness 51 autosomal recessive nonsyndromic deafness 53 autosomal recessive nonsyndromic deafness 55 autosomal recessive nonsyndromic deafness 59 autosomal recessive nonsyndromic deafness 5 autosomal recessive nonsyndromic deafness 61 autosomal recessive nonsyndromic deafness 62 autosomal recessive nonsyndromic deafness 63 autosomal recessive nonsyndromic deafness 65 autosomal recessive nonsyndromic deafness 66 autosomal recessive nonsyndromic deafness 67 autosomal recessive nonsyndromic deafness 68 autosomal recessive nonsyndromic deafness 6 autosomal recessive nonsyndromic deafness 70 autosomal recessive nonsyndromic deafness 71 autosomal recessive nonsyndromic deafness 74 autosomal recessive nonsyndromic deafness 76 autosomal recessive nonsyndromic deafness 77 autosomal recessive nonsyndromic deafness 79 autosomal recessive nonsyndromic deafness 7 autosomal recessive nonsyndromic deafness 83 autosomal recessive nonsyndromic deafness 84A autosomal recessive nonsyndromic deafness 84B autosomal recessive nonsyndromic deafness 85 autosomal recessive nonsyndromic deafness 86 autosomal recessive nonsyndromic deafness 88 autosomal recessive nonsyndromic deafness 89 autosomal recessive nonsyndromic deafness 8 autosomal recessive nonsyndromic deafness 91 autosomal recessive nonsyndromic deafness 93 autosomal recessive nonsyndromic deafness 96 autosomal recessive nonsyndromic deafness 97 autosomal recessive nonsyndromic deafness 98 autosomal recessive nonsyndromic deafness 9 autosomal recessive nonsyndromic deafness bipolar disorder blue color blindness breast cancer breast carcinoma cancer cerebral degeneration clear cell renal cell carcinoma color blindness colorectal cancer colorectal carcinoma congenital nystagmus cystic fibrosis demyelinating polyneuropathy dissociated nystagmus dominant optic atrophy plus syndrome embryoma epilepsy fumarase deficiency fundus dystrophy hepatocellular carcinoma hypertropia idiopathic interstitial pneumonia infantile cerebellar-retinal degeneration inflammatory bowel disease 1 inflammatory bowel disease insulinoma kidney cancer large intestine cancer lingual-facial-buccal dyskinesia liver cancer mechanical strabismus mitochondrial DNA depletion syndrome movement disease multiple sclerosis neurodegenerative disease newborn respiratory distress syndrome nutritional optic neuropathy obsolete autosomal recessive nonsyndromic deafness 105 ophthalmoplegia optic atrophy 1 optic atrophy 9 optic atrophy optic nerve disease pathologic nystagmus postinflammatory pulmonary fibrosis prostate cancer prostate carcinoma pulmonary fibrosis red color blindness red-green color blindness renal carcinoma renal cell carcinoma schizophrenia spontaneous ocular nystagmus stomach cancer stomach carcinoma strabismus syndromic X-linked intellectual disability 94 ulcerative colitis visual epilepsy visual pathway disease
P29401	Transketolase	TKT	2	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 Crohn's colitis Crohn's disease Leigh disease Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Pick's disease Reye syndrome Wernicke encephalopathy Wernicke-Korsakoff syndrome adenocarcinoma adenoma adrenal cortex cancer alcohol dependence alcohol use disorder amnestic disorder atrial heart septal defect 1 atrial heart septal defect 2 atrial heart septal defect 3 atrial heart septal defect 4 atrial heart septal defect 5 atrial heart septal defect 6 atrial heart septal defect 7 atrial heart septal defect 8 atrial heart septal defect 9 atrial heart septal defect beriberi breast cancer breast carcinoma cancer carcinoma central nervous system cancer cerebral degeneration cervical adenocarcinoma cervical cancer cervix carcinoma chronic kidney disease chronic myeloid leukemia colon cancer colon carcinoma colonic benign neoplasm colorectal cancer cribriform carcinoma critical illness polyneuropathy cystinuria diabetes mellitus diabetic autonomic neuropathy diabetic ketoacidosis diabetic neuropathy diabetic polyneuropathy dry beriberi embryoma galactosemia gallbladder disease giant cell glioblastoma glioblastoma gliosarcoma glucosephosphate dehydrogenase deficiency glycogen storage disease Ia glycogen storage disease granular cell carcinoma hepatitis B hepatocellular carcinoma high grade glioma hyperglycemia inflammatory and toxic neuropathy inflammatory bowel disease 1 inflammatory bowel disease inherited metabolic disorder insulinoma intellectual disability large intestine cancer learning disability liver cancer liver disease meningoencephalitis mixed glioma multiple sclerosis myeloproliferative disorder with eosinophilia nasopharynx carcinoma neurodegenerative disease neuropathy obsolete type 1 diabetes mellitus 9 ovarian cancer ovarian carcinoma patent ductus arteriosus patent foramen ovale pellagra peripheral nervous system disease polyneuropathy rectal benign neoplasm rectum adenocarcinoma rectum cancer sarcomatoid carcinoma schizophrenia stereotypic movement disorder stomach cancer stomach carcinoma thiamine deficiency disease thiamine-responsive megaloblastic anemia syndrome thyroid gland anaplastic carcinoma trichohepatoenteric syndrome 1 trichohepatoenteric syndrome tuberous sclerosis 1 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 ulcerative colitis ventricular septal defect
P50416	Carnitine O-palmitoyltransferase 1, liver isoform	CPT1A CPT1	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 D-bifunctional protein deficiency Niemann-Pick disease type C1 Niemann-Pick disease Pearson syndrome Pick's disease Reye syndrome Zollinger-Ellison syndrome abdominal obesity-metabolic syndrome 1 acute myeloid leukemia acute myocardial infarction alcoholic hepatitis alveolar rhabdomyosarcoma amnestic disorder beta thalassemia breast cancer breast carcinoma cancer carcinoma cardiomyopathy carnitine palmitoyltransferase I deficiency cataract 4 multiple types cerebral degeneration chronic fatigue syndrome chronic kidney disease colorectal cancer colorectal carcinoma congestive heart failure coronary artery disease coronary thrombosis depressive disorder diabetes mellitus diabetic ketoacidosis diarrhea dilated cardiomyopathy 1A dilated cardiomyopathy disease of metabolism dysthymic disorder embryoma encephalitis encephalomyelitis endomyocardial fibrosis epilepsy esophagus squamous cell carcinoma essential thrombocythemia familial hyperlipidemia familial hypertrophic cardiomyopathy giant cell glioblastoma glioblastoma hepatitis C hepatitis hepatocellular carcinoma high grade glioma hyperglycemia hyperinsulinism hypertrophic cardiomyopathy hypoglycemia inflammatory bowel disease isolated elevated serum creatine phosphokinase levels large intestine cancer liver cancer liver carcinoma liver cirrhosis lymphangioleiomyomatosis major depressive disorder medium chain acyl-CoA dehydrogenase deficiency melancholic depression melanoma mitochondrial trifunctional protein deficiency multiple acyl-CoA dehydrogenase deficiency multiple sclerosis myelitis myelodysplastic syndrome myocardial infarction nasopharynx carcinoma neurotic disorder obesity obsolete melancholia osteoporosis placental insufficiency polycystic ovary syndrome primary pulmonary hypertension prostate cancer prostate carcinoma psoriatic arthritis renal tubular acidosis retrograde amnesia sarcomatoid carcinoma sick sinus syndrome silent myocardial infarction skin melanoma speech disorder steatotic liver disease stomach cancer stomach carcinoma sudden infant death syndrome systemic primary carnitine deficiency disease thalassemia type 2 diabetes mellitus urea cycle disorder very long chain acyl-CoA dehydrogenase deficiency visual epilepsy
O15305	Phosphomannomutase 2	PMM2	1	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 Dandy-Walker syndrome Duchenne muscular dystrophy Hailey-Hailey disease Kallmann syndrome Marfan syndrome Meckel syndrome Pick's disease Reye syndrome Rothmund-Thomson syndrome Sheehan syndrome West syndrome Zollinger-Ellison syndrome acute myeloid leukemia acute myocardial infarction androgen insensitivity syndrome antithrombin III deficiency anxiety disorder aspiration pneumonia aspiration pneumonitis autosomal dominant Emery-Dreifuss muscular dystrophy 2 autosomal dominant cutis laxa 1 autosomal dominant cutis laxa 2 autosomal dominant cutis laxa 3 autosomal dominant cutis laxa autosomal dominant limb-girdle muscular dystrophy type 1 autosomal dominant limb-girdle muscular dystrophy type 1H autosomal dominant limb-girdle muscular dystrophy type 2 autosomal dominant limb-girdle muscular dystrophy type 3 autosomal dominant limb-girdle muscular dystrophy autosomal dominant polycystic kidney disease autosomal recessive chronic granulomatous disease 1 autosomal recessive cutis laxa type IA autosomal recessive cutis laxa type IB autosomal recessive cutis laxa type II classic type autosomal recessive cutis laxa type IIA autosomal recessive cutis laxa type IIB autosomal recessive cutis laxa type IIC autosomal recessive cutis laxa type IID autosomal recessive cutis laxa type IIIA autosomal recessive cutis laxa type IIIB autosomal recessive limb-girdle muscular dystrophy type 2A autosomal recessive limb-girdle muscular dystrophy type 2B autosomal recessive limb-girdle muscular dystrophy type 2C autosomal recessive limb-girdle muscular dystrophy type 2D autosomal recessive limb-girdle muscular dystrophy type 2E autosomal recessive limb-girdle muscular dystrophy type 2F autosomal recessive limb-girdle muscular dystrophy type 2G autosomal recessive limb-girdle muscular dystrophy type 2H autosomal recessive limb-girdle muscular dystrophy type 2I autosomal recessive limb-girdle muscular dystrophy type 2J autosomal recessive limb-girdle muscular dystrophy type 2K autosomal recessive limb-girdle muscular dystrophy type 2L autosomal recessive limb-girdle muscular dystrophy type 2M autosomal recessive limb-girdle muscular dystrophy type 2N autosomal recessive limb-girdle muscular dystrophy type 2O autosomal recessive limb-girdle muscular dystrophy type 2P autosomal recessive limb-girdle muscular dystrophy type 2Q autosomal recessive limb-girdle muscular dystrophy type 2S autosomal recessive limb-girdle muscular dystrophy type 2T autosomal recessive limb-girdle muscular dystrophy type 2U autosomal recessive limb-girdle muscular dystrophy type 2Y autosomal recessive limb-girdle muscular dystrophy blindness brain ischemia cancer cardiomyopathy cardiovascular system disease cataract cerebellar ataxia cerebellar disease cerebral degeneration cerebral palsy chronic granulomatous disease clubfoot coloboma of optic nerve colorectal cancer colorectal carcinoma cone-rod dystrophy congenital diaphragmatic hernia congenital disorder of glycosylation Ia congenital disorder of glycosylation Ib congenital disorder of glycosylation Id congenital disorder of glycosylation Ie congenital disorder of glycosylation In congenital disorder of glycosylation Iq congenital disorder of glycosylation type I congenital disorder of glycosylation congenital generalized lipodystrophy type 1 congenital generalized lipodystrophy type 2 congenital generalized lipodystrophy type 3 congenital generalized lipodystrophy type 4 congenital hypothyroidism congenital muscular dystrophy congenital nystagmus coronary thrombosis critical illness polyneuropathy cryptorchidism cutis laxa cystic kidney disease developmental and epileptic encephalopathy 36 diabetes mellitus diabetic autonomic neuropathy diabetic ketoacidosis diabetic neuropathy diabetic polyneuropathy diarrhea disease of metabolism dissociated nystagmus distal myopathy egg allergy elephantiasis embryoma endomyocardial fibrosis epilepsy esotropia essential hypertension facioscapulohumeral muscular dystrophy familial hemiplegic migraine 1 familial hemiplegic migraine familial hyperinsulinemic hypoglycemia 1 familial hyperinsulinemic hypoglycemia 2 familial hypertrophic cardiomyopathy familial nephrotic syndrome fundus albipunctatus gallbladder disease generalized anxiety disorder heart disease hemiplegia hemopericardium hyperinsulinemic hypoglycemia hyperinsulinism hypertension hypertrophic cardiomyopathy hypertropia hypogonadism 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 hypothyroidism inflammatory and toxic neuropathy inherited metabolic disorder intellectual disability 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 large intestine cancer learning disability limb-girdle muscular dystrophy lingual-facial-buccal dyskinesia lipoatrophic diabetes mellitus lipodystrophy lipoid nephrosis liver cirrhosis liver disease lung adenocarcinoma lung cancer lymphedema mal de Meleda marasmus mechanical strabismus meningoencephalitis microcephaly migraine with aura monocular esotropia movement disease muscular dystrophy myocardial infarction myofibrillar myopathy 1 myofibrillar myopathy 3 myopia myxedema nephrotic syndrome neuropathy non-congenital cyst of kidney 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 oculopharyngeal muscular dystrophy olivopontocerebellar atrophy open-angle glaucoma ophthalmoplegia osteoporosis panhypopituitarism pathologic nystagmus pericardial effusion pericarditis peripheral nervous system disease periventricular leukomalacia phobic disorder polyhydramnios polyneuropathy premature menopause primary open angle glaucoma primary ovarian insufficiency protein C deficiency protein S deficiency proteinuria pulmonary valve stenosis restrictive dermopathy retinitis pigmentosa rippling muscle disease 2 schizophrenia scoliosis silent myocardial infarction situs inversus spastic diplegia spastic monoplegia spastic quadriplegic cerebral palsy spontaneous ocular nystagmus steatotic liver disease strabismus thrombocytopenia thrombocytosis thrombophilia tuberous sclerosis type 2 diabetes mellitus visual epilepsy visual pathway disease
Q8IVL8	Carboxypeptidase O	CPO	4	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 DiGeorge syndrome Pick's disease Reye syndrome Van der Woude syndrome cerebral degeneration colorectal cancer colorectal carcinoma craniosynostosis hereditary coproporphyria large intestine cancer melorheostosis velocardiofacial syndrome
P51606	N-acylglucosamine 2-epimerase	RENBP	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 Down syndrome Hodgkin's granuloma Hodgkin's lymphoma, lymphocytic depletion Hodgkin's lymphoma, lymphocytic-histiocytic predominance Hodgkin's lymphoma, mixed cellularity Hodgkin's lymphoma Huntington's disease-like 1 Huntington's disease-like 2 Huntington's disease Kaposi's sarcoma Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Pick's disease Reye syndrome Richter's syndrome T-cell acute lymphoblastic leukemia X-linked dilated cardiomyopathy Zollinger-Ellison syndrome abdominal aortic aneurysm abdominal obesity-metabolic syndrome 1 acquired immunodeficiency syndrome acromegaly acute myocardial infarction adult T-cell leukemia/lymphoma adult respiratory distress syndrome age related macular degeneration arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy atherosclerosis atrial fibrillation atrial heart septal defect 1 atrial heart septal defect 2 atrial heart septal defect 3 atrial heart septal defect 4 atrial heart septal defect 5 atrial heart septal defect 6 atrial heart septal defect 7 atrial heart septal defect 8 atrial heart septal defect 9 atrial heart septal defect autoimmune thyroiditis autosomal recessive nonsyndromic deafness 4 bacterial infectious disease bladder carcinoma bone osteosarcoma breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer cardiovascular system disease cerebral degeneration cerebral infarction cerebral palsy cerebrovascular disease childhood osteosarcoma chronic kidney disease chronic lymphocytic leukemia colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma congestive heart failure coronary artery disease coronary thrombosis degeneration of macula and posterior pole depressive disorder diabetes mellitus diabetic angiopathy diabetic autonomic neuropathy diabetic cataract diabetic ketoacidosis diabetic neuropathy diabetic polyneuropathy diabetic retinopathy differentiated thyroid gland carcinoma dilated cardiomyopathy 1A dilated cardiomyopathy 1AA dilated cardiomyopathy 1B dilated cardiomyopathy 1BB dilated cardiomyopathy 1C dilated cardiomyopathy 1CC dilated cardiomyopathy 1D dilated cardiomyopathy 1DD dilated cardiomyopathy 1E dilated cardiomyopathy 1EE dilated cardiomyopathy 1FF dilated cardiomyopathy 1G dilated cardiomyopathy 1GG dilated cardiomyopathy 1H dilated cardiomyopathy 1HH dilated cardiomyopathy 1I dilated cardiomyopathy 1II dilated cardiomyopathy 1JJ dilated cardiomyopathy 1K dilated cardiomyopathy 1KK dilated cardiomyopathy 1L dilated cardiomyopathy 1M dilated cardiomyopathy 1NN dilated cardiomyopathy 1O dilated cardiomyopathy 1P dilated cardiomyopathy 1Q dilated cardiomyopathy 1R dilated cardiomyopathy 1S dilated cardiomyopathy 1T dilated cardiomyopathy 1U dilated cardiomyopathy 1V dilated cardiomyopathy 1W dilated cardiomyopathy 1X dilated cardiomyopathy 1Y dilated cardiomyopathy 1Z dilated cardiomyopathy 2A dilated cardiomyopathy 2B dilated cardiomyopathy dystonia embryoma enlarged vestibular aqueduct essential hypertension familial retinoblastoma gallbladder disease generalized atherosclerosis glomerulonephritis granuloma annulare heart disease hemiplegia hepatitis C hepatocellular carcinoma human immunodeficiency virus infectious disease hyperglycemia hyperinsulinism hyperpituitarism hypertension immune system disease inclusion body myositis intellectual disability kidney disease kidney failure large intestine cancer learning disability lingual-facial-buccal dyskinesia liver cancer liver cirrhosis liver disease lung benign neoplasm lung cancer lung carcinoma lung disease macular degeneration multidrug-resistant tuberculosis multiple endocrine neoplasia type 1 multiple myeloma myocardial infarction nephritis nephrosis neuroblastoma neurodegenerative disease neuroleptic malignant syndrome newborn respiratory distress syndrome nodular prostate nutmeg liver obesity obsolete type 1 diabetes mellitus 9 osteoarthritis osteosarcoma ovarian cancer ovarian carcinoma parapsoriasis patent foramen ovale pneumonia polycystic ovary syndrome pre-eclampsia prostate cancer prostate carcinoma prostatic adenoma psoriasis pustulosis of palm and sole pyoureter rectal benign neoplasm rectum adenocarcinoma rectum cancer retinoblastoma schizophrenia sialuria silent myocardial infarction spastic diplegia spastic monoplegia spastic quadriplegic cerebral palsy steatotic liver disease systemic lupus erythematosus 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 urinary bladder cancer vascular disease
P21399	Cytoplasmic aconitate hydratase	ACO1 IREB1	1	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 Down syndrome 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 Wilson disease acquired polycythemia adrenal gland cancer age related macular degeneration anemia arthritis arthropathy bipolar disorder cancer cerebral degeneration deficiency anemia degeneration of macula and posterior pole duodenal ulcer duodenum cancer dysplastic nevus syndrome embryoma erythropoietin polycythemia essential hypertension familial erythrocytosis 2 heart cancer hemochromatosis type 1 hemochromatosis hepatocellular carcinoma hypertension hypochromic anemia iron metabolism disease leech infestation liver cancer macrocytic anemia macular degeneration melanoma metabolic dysfunction-associated steatotic liver disease microcytic anemia myiasis neuroblastoma osteoarthritis pancreatic cancer pancreatic carcinoma parapsoriasis pheochromocytoma polycythemia vera polycythemia prostate cancer prostate carcinoma psoriasis pustulosis of palm and sole skin melanoma small intestine cancer stress polycythemia toxoplasmosis
P13727	Bone marrow proteoglycan	PRG2 MBP	7	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 Duchenne muscular dystrophy Ehlers-Danlos syndrome spondylodysplastic type 2 Pick's disease Reye syndrome allergic asthma asthma 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 breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer cerebral degeneration cholera colorectal cancer colorectal carcinoma congenital muscular dystrophy dermatophytosis dilated cardiomyopathy 1A dilated cardiomyopathy distal myopathy embryoma endometrial cancer endometrial carcinoma eosinophilic esophagitis facioscapulohumeral muscular dystrophy fungal infectious disease intrinsic asthma large intestine cancer limb-girdle muscular dystrophy lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma muscular dystrophy myelofibrosis myofibrillar myopathy 1 myofibrillar myopathy 3 nodular prostate obsolete autosomal dominant limb-girdle muscular dystrophy type 1A obsolete autosomal dominant limb-girdle muscular dystrophy type 1B obsolete autosomal dominant limb-girdle muscular dystrophy type 1C obsolete autosomal recessive limb-girdle muscular dystrophy type 2R oculopharyngeal muscular dystrophy prostate cancer prostate carcinoma prostatic adenoma rippling muscle disease 2 uterine corpus cancer
P29218	Inositol monophosphatase 1	IMPA1 IMPA	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 Duchenne muscular dystrophy Lewy body dementia Pick's disease Reye syndrome alcohol dependence alcohol use disorder antisocial personality disorder aplastic anemia 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 avoidant personality disorder bipolar disorder brain stem infarction breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer cardiovascular system disease central nervous system cancer cerebral artery occlusion cerebral atherosclerosis cerebral degeneration cerebral infarction cerebrovascular disease chronic myeloid leukemia colon cancer colon carcinoma colonic benign neoplasm colorectal cancer cone-rod dystrophy congenital muscular dystrophy conjunctivitis cryptosporidiosis cystitis delusional disorder dermatophytosis diabetes mellitus distal myopathy embryoma epilepsy essential hypertension facioscapulohumeral muscular dystrophy focal epilepsy fundus albipunctatus fungal infectious disease gallbladder disease gliosarcoma glycogen storage disease IV glycogen storage disease VI glycogen storage disease VII heart disease high grade glioma hypertension intellectual disability intracranial arteriosclerosis large intestine cancer learning disability limb-girdle muscular dystrophy liver disease lung benign neoplasm lung cancer lung carcinoma mixed glioma muscular dystrophy myofibrillar myopathy 1 myofibrillar myopathy 3 narcissistic personality disorder obsolete autosomal dominant limb-girdle muscular dystrophy type 1A obsolete autosomal dominant limb-girdle muscular dystrophy type 1B obsolete autosomal dominant limb-girdle muscular dystrophy type 1C obsolete autosomal recessive limb-girdle muscular dystrophy type 2R oculopharyngeal muscular dystrophy ovarian cancer ovarian carcinoma paranoid schizophrenia partial motor epilepsy primary pulmonary hypertension retinitis pigmentosa rippling muscle disease 2 sickle cell anemia syndromic X-linked intellectual disability 94 systemic primary carnitine deficiency disease trigonitis type 2 diabetes mellitus visual epilepsy
Q9Y5X9	Endothelial lipase	LIPG	9	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 Duchenne muscular dystrophy Pick's disease Reye syndrome abdominal obesity-metabolic syndrome 1 acute chest syndrome acute myocardial infarction allergic asthma aortic atherosclerosis arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease asthma atherosclerosis autistic disorder breast cancer breast carcinoma cancer cardiovascular system disease cerebral degeneration cholesterol-ester transfer protein deficiency coronary artery disease coronary thrombosis dementia depressive disorder diabetes mellitus diabetic cataract diabetic retinopathy embryoma embryonal cancer endometriosis of uterus endometriosis essential hypertension familial hypercholesterolemia familial retinoblastoma germ cell and embryonal cancer germ cell cancer germinoma gestational diabetes heart disease hemolytic-uremic syndrome hyperalphalipoproteinemia 1 hypertension intrinsic asthma muscular dystrophy myocardial infarction nutmeg liver obesity ocular cancer placental insufficiency retinoblastoma sickle cell anemia silent myocardial infarction trilateral retinoblastoma type 2 diabetes mellitus uveal melanoma vascular disease
P14207	Folate receptor beta	FOLR2	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 Ebola hemorrhagic fever Fleck corneal dystrophy Lyme disease Pick's disease Rett syndrome Reye syndrome Stevens-Johnson syndrome acute myeloid leukemia acute myocardial infarction adenocarcinoma adenoma arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis autism spectrum disorder autistic disorder autoimmune disease autoimmune lymphoproliferative syndrome benign mesothelioma bone osteosarcoma breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer cerebral degeneration cerebral folate receptor alpha deficiency childhood osteosarcoma chronic fatigue syndrome chronic myeloid leukemia colorectal cancer colorectal carcinoma coronary artery disease coronary thrombosis cribriform carcinoma diabetes mellitus diabetic ketoacidosis diverticulitis embryoma encephalitis encephalomyelitis endometrial cancer endometrial carcinoma enthesopathy erythema multiforme fibromyalgia gestational diabetes granular cell carcinoma head and neck squamous cell carcinoma hematologic cancer hemolytic anemia hepatocellular carcinoma hyperhomocysteinemia idiopathic interstitial pneumonia idiopathic pulmonary fibrosis immune system disease interstitial lung disease large intestine cancer lingual-facial-buccal dyskinesia liver cancer liver carcinoma localized scleroderma lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma malignant mesothelioma malignant pleural mesothelioma maturity-onset diabetes of the young measles melanoma mitochondrial metabolism disease mitochondrial myopathy movement disease multiple myeloma multiple sclerosis myelitis myelomeningocele myocardial infarction neurodegenerative disease osteosarcoma ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma pancreatic ductal adenocarcinoma postinflammatory pulmonary fibrosis pulmonary fibrosis rheumatoid arthritis scleroderma silent myocardial infarction skin melanoma spina bifida squamous cell carcinoma steatotic liver disease stomach cancer stomach carcinoma synovitis systemic scleroderma temporal arteritis tenosynovitis tethered spinal cord syndrome tongue squamous cell carcinoma tubular adenocarcinoma type 2 diabetes mellitus uterine corpus cancer vascular disease
O96024	Beta-1,3-galactosyltransferase 4	B3GALT4 GALT4	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 Ehlers-Danlos syndrome Parkinson's disease Pick's disease Reye syndrome breast cancer cerebral degeneration colorectal cancer colorectal carcinoma large intestine cancer late onset Parkinson's disease osteogenesis imperfecta
Q9P126	C-type lectin domain family 1 member B	CLEC1B CLEC2	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 Evans' syndrome Marfan syndrome Pick's disease Reye syndrome adult respiratory distress syndrome androgen insensitivity syndrome arteriosclerotic cardiovascular disease atherosclerosis atrioventricular septal defect autoimmune thrombocytopenic purpura bacterial sepsis blood coagulation disease cancer cerebral degeneration cerebral infarction cerebrovascular disease chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma coronary artery disease diabetes mellitus diabetic ketoacidosis embryoma gallbladder disease hematopoietic system disease hemolytic-uremic syndrome hepatocellular carcinoma liver cancer liver disease lung benign neoplasm melanoma newborn respiratory distress syndrome nonpapillary renal cell carcinoma nutmeg liver obsolete inherited blood coagulation disease papillary renal cell carcinoma pneumonia renal carcinoma renal cell carcinoma rheumatoid arthritis sarcomatoid renal cell carcinoma situs inversus skin melanoma split hand-foot malformation 1 stomach cancer stomach carcinoma thrombocytopenia due to platelet alloimmunization thrombocytopenia thrombophilia thrombotic thrombocytopenic purpura tuberous sclerosis type 2 diabetes mellitus viral infectious disease
A6NDG6	Glycerol-3-phosphate phosphatase	PGP	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 Ewing sarcoma Hirschsprung's disease Krukenberg carcinoma Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Pick's disease Reye syndrome acute lymphoblastic leukemia acute myeloid leukemia adenocarcinoma adenoma allergic asthma alternating hemiplegia of childhood asthma autonomic neuropathy autosomal dominant polycystic kidney disease basal cell carcinoma bipolar disorder bone marrow disease brain ischemia breast cancer breast carcinoma cancer carcinoma central nervous system disease central nervous system lymphoma cerebral degeneration childhood leukemia chorioamnionitis chronic myeloid leukemia colon adenocarcinoma colorectal cancer colorectal carcinoma cribriform carcinoma degenerative disc disease depressive disorder diabetes mellitus diabetic ketoacidosis disease of metabolism dysthymic disorder embryoma erythromelalgia essential hypertension essential thrombocythemia familial retinoblastoma glucose intolerance granular cell carcinoma hepatocellular carcinoma hypertension inflammatory bowel disease intrinsic asthma kidney cancer large intestine cancer leukemia lingual-facial-buccal dyskinesia liver cancer lung benign neoplasm lung carcinoma lymphoid leukemia lymphoma major depressive disorder melancholic depression myelodysplastic syndrome myeloid leukemia myotonic dystrophy type 1 myotonic dystrophy type 2 nervous system disease neuroblastoma neurodegenerative disease neuroectodermal tumor neuropathy neurotic disorder obsolete major affective disorder 2 obsolete melancholia obsolete type 1 diabetes mellitus 9 obsolete ymphosarcoma peripheral nervous system disease polycystic kidney disease 1 polyneuropathy prediabetes syndrome retinoblastoma rhabdomyosarcoma rhinitis schizophrenia sebaceous carcinoma sexual dysfunction squamous cell carcinoma sweat gland cancer 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 varicose veins vitiligo
O60502	Protein O-GlcNAcase	OGA HEXC KIAA0679 MEA5 MGEA5	5	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 Fabry disease GM1 gangliosidosis GM2 gangliosidosis, AB variant GM2 gangliosidosis Gaucher's disease Gilles de la Tourette syndrome Lewy body dementia Marfan syndrome Niemann-Pick disease Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Pick's disease Reye syndrome Sandhoff disease Tay-Sachs disease Timothy syndrome abdominal obesity-metabolic syndrome 1 acoustic neuroma acute myocardial infarction alternating hemiplegia of childhood amnestic disorder amyotrophic lateral sclerosis type 1 amyotrophic lateral sclerosis type 2 amyotrophic lateral sclerosis type 4 amyotrophic lateral sclerosis angiomatous meningioma anterior horn cell disease aortic valve disease 2 aortic valve stenosis arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis atopic dermatitis autonomic neuropathy autosomal dominant cerebellar ataxia autosomal recessive distal hereditary motor neuronopathy 1 benign meningioma beta thalassemia breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer cardiovascular system disease central nervous system disease cerebral convexity meningioma cerebral degeneration chronic kidney disease chylomicron retention disease clear cell meningioma colitis colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma congenital disorder of glycosylation Ia congenital disorder of glycosylation type I congestive heart failure connective tissue benign neoplasm coronary artery disease coronary thrombosis cystitis dermatitis diabetes mellitus diabetic ketoacidosis dystonia embryoma encephalitis encephalomyelitis epilepsy epithelioid sarcoma essential hypertension fibrous meningioma gangliosidosis gastroenteritis gastrointestinal system disease gestational diabetes giant cell glioblastoma gingivitis glioblastoma glomerulonephritis glucose intolerance glycoproteinosis heart disease hepatocellular carcinoma hydronephrosis hypertension ileitis ileocolitis intestinal disease intraorbital meningioma intraventricular meningioma kidney disease kidney failure kwashiorkor large intestine cancer lateral sclerosis lingual-facial-buccal dyskinesia lipid storage disease lipoid nephrosis liver cancer liver cirrhosis long QT syndrome 8 lung cancer lung carcinoma lymphoplasmacyte-rich meningioma lysosomal storage disease marasmus membranous glomerulonephritis meningioma meningothelial meningioma microcystic meningioma microphthalmia motor neuron disease mucolipidosis II alpha/beta mucolipidosis III alpha/beta mucopolysaccharidosis II mucopolysaccharidosis III mucopolysaccharidosis IV mucopolysaccharidosis VI mucopolysaccharidosis type IIIA mucopolysaccharidosis type IVB mucopolysaccharidosis multiple acyl-CoA dehydrogenase deficiency multiple myeloma myelitis myocardial infarction nephritis nephrosis nervous system disease neurodegenerative disease nutrition disease obesity obsolete Matthew-Wood syndrome obsolete type 1 diabetes mellitus 9 olfactory groove meningioma ovarian cancer ovarian carcinoma panic disorder parasagittal meningioma pituitary adenoma prediabetes syndrome progressive familial intrahepatic cholestasis 1 progressive muscular atrophy progressive supranuclear palsy protein-energy malnutrition psammomatous meningioma pyoureter renal osteodystrophy retrograde amnesia sarcoma secondary Parkinson disease secretory meningioma silent myocardial infarction situs inversus sphingolipidosis spinal meningioma spindle cell sarcoma tauopathy thalassemia transitional meningioma tricuspid valve stenosis trigonitis tuberous sclerosis 1 tuberous sclerosis type 1 diabetes mellitus 10 type 1 diabetes mellitus 11 type 1 diabetes mellitus 12 type 1 diabetes mellitus 13 type 1 diabetes mellitus 15 type 1 diabetes mellitus 17 type 1 diabetes mellitus 18 type 1 diabetes mellitus 19 type 1 diabetes mellitus 20 type 1 diabetes mellitus 21 type 1 diabetes mellitus 22 type 1 diabetes mellitus 23 type 1 diabetes mellitus 24 type 1 diabetes mellitus 2 type 1 diabetes mellitus 3 type 1 diabetes mellitus 4 type 1 diabetes mellitus 5 type 1 diabetes mellitus 6 type 1 diabetes mellitus 7 type 1 diabetes mellitus 8 type 1 diabetes mellitus type 2 diabetes mellitus visual epilepsy
P07911	Uromodulin	UMOD	17	393	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 Fabry disease IgA glomerulonephritis Meckel syndrome 1 Meckel syndrome 2 Meckel syndrome 3 Meckel syndrome 4 Meckel syndrome 5 Meckel syndrome 6 Meckel syndrome 8 Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Pick's disease Reye syndrome Senior-Loken syndrome Van der Woude syndrome abdominal obesity-metabolic syndrome 1 acute lymphoblastic leukemia acute myeloid leukemia acute pancreatitis adenine phosphoribosyltransferase deficiency adult acute lymphocytic leukemia alcohol dependence alcohol use disorder anxiety disorder aortic aneurysm arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis autoimmune hepatitis autosomal dominant polycystic kidney disease autosomal recessive polycystic kidney disease babesiosis bladder carcinoma breast cancer breast carcinoma cancer cardiovascular system disease cerebral degeneration cerebral infarction cerebrovascular disease childhood acute lymphocytic leukemia childhood leukemia chronic interstitial cystitis chronic kidney disease chronic pyelonephritis chylomicron retention disease cleidocranial dysplasia cocaine abuse cocaine dependence congestive heart failure coronary artery disease cystic kidney disease diabetes mellitus diabetic cataract diabetic ketoacidosis diabetic retinopathy diffuse large B-cell lymphoma esophageal cancer esophageal carcinoma essential hypertension familial juvenile hyperuricemic nephropathy gallbladder disease generalized anxiety disorder giant cell glioblastoma glioblastoma glomerulonephritis glucose intolerance gout heart disease hepatitis A hepatitis humeroradial synostosis hypertension hyperuricemia interstitial cystitis interstitial nephritis kidney disease kidney failure leukemia lipid storage disease liver cirrhosis liver disease lupus erythematosus maple syrup urine disease middle cerebral artery infarction morphine dependence nephritis nephrolithiasis nephronophthisis 1 nephronophthisis nephrosclerosis nephrosis normal pressure hydrocephalus nutmeg liver obsolete type 1 diabetes mellitus 9 osteoporosis ovarian cancer ovarian carcinoma pancreatitis pertussis phobic disorder polycystic kidney disease 1 polycystic kidney disease 4 polydactyly prediabetes syndrome pyelitis pyelonephritis pyoureter radioulnar synostosis renal hypertension renal infectious disease secondary hyperparathyroidism systemic lupus erythematosus 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 urinary bladder cancer urinary tract obstruction
Q9NQ88	Fructose-2,6-bisphosphatase TIGAR	TIGAR C12orf5	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 Fanconi anemia complementation group A Fanconi anemia Lewy body dementia Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Pick's disease Reye syndrome Richter's syndrome T-cell acute lymphoblastic leukemia acute monocytic leukemia acute myeloid leukemia acute pancreatitis adult T-cell leukemia/lymphoma adult lymphoma amyotrophic lateral sclerosis type 1 amyotrophic lateral sclerosis type 2 amyotrophic lateral sclerosis type 4 anterior horn cell disease autosomal recessive distal hereditary motor neuronopathy 1 brain stem infarction breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer central nervous system cancer central nervous system lymphoma cerebral artery occlusion cerebral degeneration cerebral infarction cerebral palsy cerebrovascular disease childhood leukemia childhood lymphoma chromophobe renal cell carcinoma chronic lymphocytic leukemia clear cell renal cell carcinoma cleft palate collecting duct carcinoma colon cancer colonic benign neoplasm colorectal cancer colorectal carcinoma degenerative disc disease dementia embryoma epilepsy esophagus squamous cell carcinoma familial retinoblastoma giant cell glioblastoma glioblastoma gliosarcoma hemiplegia hepatocellular carcinoma high grade glioma hypoglycemia inflammatory bowel disease 1 inflammatory bowel disease intestinal benign neoplasm intestinal cancer isolated cleft palate large intestine cancer lateral sclerosis leukemia liver cancer liver carcinoma lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lymphoma mixed glioma motor neuron disease nasopharynx carcinoma neurodegenerative disease nonpapillary renal cell carcinoma obesity obsolete ymphosarcoma pancreatitis papillary renal cell carcinoma primary cutaneous T-cell non-Hodgkin lymphoma renal carcinoma renal cell carcinoma retinoblastoma sarcomatoid renal cell carcinoma schizophrenia spastic diplegia spastic monoplegia spastic quadriplegic cerebral palsy stomach cancer stomach carcinoma trilateral retinoblastoma ulcerative colitis
Q16875	6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3	PFKFB3	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 Fanconi anemia complementation group A Fanconi anemia Pick's disease Reye syndrome actinic keratosis acute myeloid leukemia adenocarcinoma adenoma anaplastic astrocytoma arthritis arthropathy bacterial sepsis bipolar disorder bladder carcinoma bone marrow cancer bone osteosarcoma brain stem infarction breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer cerebral artery occlusion cerebral degeneration cerebral infarction cerebrovascular disease childhood cerebral astrocytoma childhood osteosarcoma chronic myeloid leukemia colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma coronary artery disease cribriform carcinoma depressive disorder dermatophytosis diabetes mellitus diabetic ketoacidosis embryoma esophagus squamous cell carcinoma essential hypertension extrinsic cardiomyopathy fibrillary astrocytoma fungal infectious disease gemistocytic astrocytoma giant cell glioblastoma glioblastoma granular cell carcinoma head and neck squamous cell carcinoma hepatocellular carcinoma high grade glioma hypertension hypoglycemia juvenile pilocytic astrocytoma large intestine cancer liver cancer lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma major depressive disorder malignant astrocytoma malignant pleural mesothelioma melancholic depression melanoma mood disorder morbid obesity multiple myeloma myeloproliferative neoplasm nasopharynx carcinoma neuroblastoma neurotic disorder obesity obsolete melancholia obsolete type 1 diabetes mellitus 9 osteoarthritis osteosarcoma pancreatic cancer pilocytic astrocytoma primary pulmonary hypertension prostate cancer prostate carcinoma protoplasmic astrocytoma psoriatic arthritis rheumatoid arthritis seborrheic keratosis skin disease skin melanoma squamous cell carcinoma stomach cancer stomach carcinoma subependymal giant cell astrocytoma thyroid adenoma thyroid cancer thyroid gland carcinoma tongue squamous cell carcinoma tubular adenocarcinoma type 1 diabetes mellitus 10 type 1 diabetes mellitus 11 type 1 diabetes mellitus 12 type 1 diabetes mellitus 13 type 1 diabetes mellitus 15 type 1 diabetes mellitus 17 type 1 diabetes mellitus 18 type 1 diabetes mellitus 19 type 1 diabetes mellitus 20 type 1 diabetes mellitus 21 type 1 diabetes mellitus 22 type 1 diabetes mellitus 23 type 1 diabetes mellitus 24 type 1 diabetes mellitus 2 type 1 diabetes mellitus 3 type 1 diabetes mellitus 4 type 1 diabetes mellitus 5 type 1 diabetes mellitus 6 type 1 diabetes mellitus 7 type 1 diabetes mellitus 8 type 1 diabetes mellitus type 2 diabetes mellitus urinary bladder cancer
O60931	Cystinosin	CTNS	7	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 Fanconi anemia Fanconi syndrome Laron syndrome Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Pick's disease Reye syndrome achondroplasia androgen insensitivity syndrome anhidrosis 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 vaginosis bone disease cartilage disease cerebral degeneration cone-rod dystrophy connective tissue disease cystinosis diabetes mellitus diabetic ketoacidosis disease of metabolism distal myopathy eunuchism exocrine pancreatic insufficiency facioscapulohumeral muscular dystrophy fundus albipunctatus glomerulonephritis hypogonadism hypohidrosis hypokalemia hypophosphatemia kidney disease kidney failure limb-girdle muscular dystrophy lysosomal storage disease male infertility muscular dystrophy nephritis nephrolithiasis nephrosis obsolete asthenopia 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 constipation oculopharyngeal muscular dystrophy osteomalacia premature menopause proteinuria pyoureter recurrent corneal erosion retinal disease retinitis pigmentosa retinitis rickets spondyloepimetaphyseal dysplasia, Sponastrime type uric acid nephrolithiasis vaginitis vulvitis vulvovaginitis
P09622	Dihydrolipoyl dehydrogenase, mitochondrial	DLD GCSL LAD PHE3	2	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 Friedreich ataxia Glanzmann's thrombasthenia Grn-related frontotemporal lobar degeneration with Tdp43 inclusions Leigh disease Lewy body dementia Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Pick's disease Reye syndrome acute monocytic leukemia acute myocardial infarction adenine phosphoribosyltransferase deficiency adenocarcinoma adenoma adult fibrosarcoma alexia alternating hemiplegia of childhood amyotrophic lateral sclerosis antithrombin III deficiency arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis atrial fibrillation atypical chronic myeloid leukemia, BCR-ABL1 negative autistic disorder autonomic neuropathy bacterial sepsis benign mesothelioma brain disease brain infarction breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer cardiomyopathy central nervous system disease cerebellar ataxia cerebellar disease cerebral degeneration cerebral infarction cerebrovascular disease childhood leukemia choriocarcinoma chromophobe renal cell carcinoma chronic monocytic leukemia clear cell renal cell carcinoma collecting duct carcinoma colon adenocarcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma communication disorder congenital disorder of glycosylation type II congenital disorder of glycosylation type IIc congenital disorder of glycosylation congestive heart failure coronary artery disease coronary stenosis coronary thrombosis cribriform carcinoma cutaneous mastocytosis dementia depressive disorder diabetes mellitus diabetic ketoacidosis diffuse cutaneous mastocytosis disease of metabolism dyslexia dysthymic disorder dystonia embryoma endomyocardial fibrosis epilepsy essential hypertension familial adenomatous polyposis 1 familial adenomatous polyposis familial hyperlipidemia familial hypertrophic cardiomyopathy fibrosarcoma follicular adenoma fragile X syndrome frontotemporal dementia giant cell glioblastoma glioblastoma granular cell carcinoma gray platelet syndrome hepatic coma hepatic encephalopathy hepatocellular carcinoma high grade glioma hyperglycemia hypertension hypertensive retinopathy hypertrophic cardiomyopathy hypoglycemia inflammatory bowel disease 1 inflammatory bowel disease intellectual disability intermittent claudication islet cell tumor lactic acidosis language disorder large intestine cancer learning disability leukemia leukocyte adhesion deficiency 2 leukocyte adhesion deficiency 3 leukocyte adhesion deficiency lissencephaly liver cancer liver carcinoma lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung disease lymphoid leukemia major depressive disorder malignant mesothelioma maple syrup urine disease mastocytosis melancholic depression methemoglobinemia microcephaly microcystic adenoma monocytic leukemia multiple myeloma multiple sclerosis myeloid leukemia myocardial infarction nervous system disease neuroblastoma neurotic disorder obsolete melancholia pancreatic cancer pancreatic carcinoma papillary adenoma papillary renal cell carcinoma periodontitis peripheral vascular disease placenta cancer platelet-type bleeding disorder 17 platelet-type bleeding disorder 18 posterior myocardial infarction primary immunodeficiency disease progressive muscular atrophy prostate cancer prostate carcinoma protein C deficiency protein S deficiency pyruvate carboxylase deficiency disease pyruvate decarboxylase deficiency qualitative platelet defect renal carcinoma renal cell carcinoma sarcomatoid renal cell carcinoma schizophrenia short chain acyl-CoA dehydrogenase deficiency silent myocardial infarction stomach cancer stomach carcinoma stuttering sulfhemoglobinemia thrombophilia trichohepatoenteric syndrome 1 trichohepatoenteric syndrome tuberculosis tubular adenocarcinoma type 2 diabetes mellitus ulcerative colitis urea cycle disorder urticaria pigmentosa varicose veins vascular disease viral infectious disease visual epilepsy
P34059	N-acetylgalactosamine-6-sulfatase	GALNS	3	33	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 GM1 gangliosidosis Laron syndrome Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Pick's disease Reye syndrome Richter's syndrome Wilson disease achondroplasia acne adenine phosphoribosyltransferase deficiency adenocarcinoma adenoma age related macular degeneration amyloidosis anthrax disease anxiety disorder arachnoiditis bacterial meningitis bacterial sepsis bacterial vaginosis bile duct adenocarcinoma bile duct carcinoma breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer cardiovascular system disease cerebral degeneration cholangiocarcinoma chronic lymphocytic leukemia chronic obstructive pulmonary disease chronic ulcer of skin colorectal cancer colorectal carcinoma cribriform carcinoma degeneration of macula and posterior pole dental caries dentin caries diabetes mellitus diabetic ketoacidosis disease of mental health disease of metabolism embryoma enterocele generalized anxiety disorder glomerulonephritis granular cell carcinoma head and neck cancer head and neck squamous cell carcinoma heart disease hemochromatosis hole retinal cyst impetigo influenza inguinal hernia intrahepatic cholangiocarcinoma iron metabolism disease kidney disease large intestine cancer lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lysosomal storage disease macular degeneration macular holes mastitis meningitis metachromatic leukodystrophy mucopolysaccharidosis II mucopolysaccharidosis III mucopolysaccharidosis IV mucopolysaccharidosis IVA mucopolysaccharidosis VI mucopolysaccharidosis type IVB mucopolysaccharidosis multiple epiphyseal dysplasia myositis necrotizing fasciitis nephritis osteochondrodysplasia osteoporosis pharyngitis phobic disorder prostate cancer prostate carcinoma psychotic disorder pyoderma retinal perforation rheumatic fever scarlet fever scoliosis sensorineural hearing loss stomach cancer stomach carcinoma tonsillitis tuberculosis tubular adenocarcinoma type 2 diabetes mellitus vaginitis viral meningitis vulvitis vulvovaginitis
P50897	Palmitoyl-protein thioesterase 1	PPT1 CLN1 PPT	4	81	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 Gaucher's disease Graves' disease Huntington's disease-like 1 Huntington's disease-like 2 Huntington's disease Pick's disease Reye syndrome Stargardt disease Unverricht-Lundborg syndrome actinic keratosis age related macular degeneration alternating hemiplegia of childhood amnestic disorder autonomic neuropathy basal cell carcinoma blepharospasm blindness brain disease breast cancer breast carcinoma cancer cannabis abuse cannabis dependence central nervous system disease cerebral degeneration colorectal cancer congestive heart failure degeneration of macula and posterior pole denture stomatitis depressive disorder dysthymic disorder early myoclonic encephalopathy embryoma endometriosis of uterus endometriosis epilepsy eye disease focal hand dystonia giant cell glioblastoma glioblastoma hepatocellular carcinoma high grade glioma hyperthyroidism intellectual disability inverted follicular keratosis keratoacanthoma large intestine cancer learning disability lingual-facial-buccal dyskinesia liver cancer lung cancer lung non-small cell carcinoma lysosomal storage disease macular degeneration major depressive disorder male infertility melancholic depression melanoacanthoma movement disease nervous system disease neuroblastoma neurodegenerative disease neuronal ceroid lipofuscinosis 10 neuronal ceroid lipofuscinosis 11 neuronal ceroid lipofuscinosis 13 neuronal ceroid lipofuscinosis 1 neuronal ceroid lipofuscinosis 2 neuronal ceroid lipofuscinosis 3 neuronal ceroid lipofuscinosis 4 neuronal ceroid lipofuscinosis 5 neuronal ceroid lipofuscinosis 6A neuronal ceroid lipofuscinosis 6B neuronal ceroid lipofuscinosis 7 neuronal ceroid lipofuscinosis 8 northern epilepsy variant neuronal ceroid lipofuscinosis 8 neuronal ceroid lipofuscinosis 9 neuronal ceroid lipofuscinosis neurotic disorder obsolete melancholia optic atrophy polycystic ovary syndrome primary immunodeficiency disease prostate adenocarcinoma prostate cancer prostate carcinoma psychotic disorder retrograde amnesia schizoaffective disorder schizophrenia schizophreniform disorder seborrheic keratosis secondary Parkinson disease skin disease stomatitis syndromic X-linked intellectual disability 94 thyrotoxicosis ulcerative stomatitis visual epilepsy
Q14956	Transmembrane glycoprotein NMB	GPNMB HGFIN NMB	13	210	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 Gaucher's disease Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Pick's disease Reye syndrome Sveinsson chorioretinal atrophy acute kidney failure acute myocardial infarction adenocarcinoma adenoma adult liposarcoma amyloidosis amyotrophic lateral sclerosis anxiety disorder arthritis arthropathy bladder carcinoma bone disease bone osteosarcoma brain cancer brain ischemia breast cancer breast carcinoma cancer cartilage disease central nervous system cancer cerebral degeneration cervical adenocarcinoma cervical cancer cervix carcinoma childhood liposarcoma childhood osteosarcoma chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma colorectal cancer colorectal carcinoma connective tissue disease coronary thrombosis cystic fibrosis distal arthrogryposis embryoma endometriosis of uterus endometriosis follicular adenoma generalized anxiety disorder giant cell glioblastoma glioblastoma gliosarcoma head and neck squamous cell carcinoma hepatitis hepatocellular carcinoma high grade glioma kidney disease large intestine cancer liposarcoma liver cancer liver cirrhosis lymphangioleiomyomatosis lysosomal storage disease melanoma microcystic adenoma microphthalmia mixed glioma monoclonal gammopathy of uncertain significance myocardial infarction neurodegenerative disease nonpapillary renal cell carcinoma open-angle glaucoma osteoarthritis osteoporosis osteosarcoma pancreatic cancer pancreatic carcinoma papillary adenocarcinoma papillary adenoma papillary renal cell carcinoma periodontal disease phobic disorder pigment dispersion syndrome pleomorphic liposarcoma progressive muscular atrophy prostate cancer prostate carcinoma renal carcinoma renal cell carcinoma sarcomatoid renal cell carcinoma silent myocardial infarction skin melanoma squamous cell carcinoma stomach cancer stomach carcinoma thyroid gland papillary carcinoma tongue squamous cell carcinoma ureteral obstruction urinary bladder cancer

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