GlyCosmos Portal

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UniProt ID	Protein Name	Gene Symbol	No. of Glycosylation Sites	No. of GlyTouCan IDs	Disease Ontology ▲
P32004	Neural cell adhesion molecule L1	L1CAM CAML1 MIC5	23	58	Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease Charcot-Marie-Tooth disease type 5 Henoch-Schoenlein purpura Hirschsprung's disease Kallmann syndrome Laron syndrome MASA syndrome Mast syndrome Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Pick's disease Rett syndrome Reye syndrome SPOAN syndrome Sheehan syndrome Troyer syndrome X-linked dominant hypophosphatemic rickets achondroplasia acne acute chest syndrome adenomatoid tumor adrenal gland cancer adrenoleukodystrophy alternating hemiplegia of childhood anxiety disorder aphasia atrophic gastritis autism spectrum disorder autistic disorder autonomic neuropathy benign ependymoma benign intermediate mesothelioma benign mesothelioma bile duct adenocarcinoma bile duct carcinoma bone osteosarcoma brain cancer breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma celiac disease cellular ependymoma central nervous system cancer central nervous system disease cerebral degeneration cervical adenocarcinoma cervical cancer cervix carcinoma childhood ependymoma cholangiocarcinoma chromophobe renal cell carcinoma clear cell renal cell carcinoma clubfoot collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma communicating hydrocephalus congenital hypothyroidism congenital nystagmus craniosynostosis depressive disorder diabetes mellitus differentiated thyroid gland carcinoma dissociated nystagmus duodenum cancer embryoma endometrial adenocarcinoma endometrial cancer endometrial carcinoma esophagus squamous cell carcinoma familial retinoblastoma fibromyalgia gastrointestinal stromal tumor giant cell glioblastoma glioblastoma gliosarcoma glucose intolerance heart cancer 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 high grade glioma holoprosencephaly 1 holoprosencephaly hydrocephalus hypersensitivity vasculitis hypertropia 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 hypothalamic disease hypothyroidism idiopathic interstitial pneumonia idiopathic pulmonary fibrosis inflammatory bowel disease intellectual disability intracranial hypertension intrahepatic cholangiocarcinoma 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 kidney cancer large intestine cancer learning disability liver cancer lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lung small cell carcinoma major depressive disorder malignant mesothelioma malignant pleural mesothelioma mechanical strabismus melanoma microcephaly microinvasive gastric cancer microphthalmia mixed glioma mucopolysaccharidosis II mucopolysaccharidosis III mucopolysaccharidosis IV mucopolysaccharidosis VI mucopolysaccharidosis myxedema myxopapillary ependymoma nephrogenic diabetes insipidus nervous system disease neuroblastoma neurotic disorder nonpapillary renal cell carcinoma obsolete Matthew-Wood syndrome obsolete intestinal pseudo-obstruction obstructive hydrocephalus ophthalmoplegia osteosarcoma ovarian cancer ovarian carcinoma pancreatic adenocarcinoma pancreatic cancer pancreatic carcinoma pancreatic ductal adenocarcinoma panhypopituitarism papillary adenocarcinoma papillary ependymoma papillary renal cell carcinoma paralytic ileus paraplegia parathyroid gland disease pathologic nystagmus pheochromocytoma phobic disorder prediabetes syndrome primary biliary cholangitis prostate cancer prostate carcinoma pseudotumor cerebri renal carcinoma renal cell carcinoma restless legs syndrome retinoblastoma rickets sarcomatoid carcinoma sarcomatoid renal cell carcinoma schizophrenia seminoma senile degeneration of brain skin melanoma small intestine cancer spontaneous ocular nystagmus squamous cell carcinoma stomach cancer stomach carcinoma strabismus syndromic X-linked intellectual disability 94 systemic lupus erythematosus tanycytic ependymoma testicular cancer testis seminoma thymus gland disease thyroid adenoma thyroid cancer thyroid gland anaplastic carcinoma thyroid gland carcinoma thyroid gland papillary carcinoma tongue squamous cell carcinoma transitional cell carcinoma trilateral retinoblastoma type 2 diabetes mellitus uterine carcinosarcoma uterine corpus cancer
P09848	Lactase/phlorizin hydrolase	LCT LPH	15	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 Clostridium difficile colitis Crohn's colitis Crohn's disease EEC syndrome Gilles de la Tourette syndrome Leydig cell tumor Pick's disease Reye syndrome Sertoli cell-only syndrome T-cell acute lymphoblastic leukemia Y-linked spermatogenic failure 1 abdominal obesity-metabolic syndrome 1 acute myocardial infarction acute retinal necrosis syndrome adult T-cell leukemia/lymphoma adult respiratory distress syndrome allergic asthma antiphospholipid syndrome antithrombin III deficiency asthma autoimmune polyendocrine syndrome bullous congenital ichthyosiform erythroderma cancer celiac disease cerebral degeneration colitis colorectal cancer colorectal carcinoma coronary artery disease coronary thrombosis cystic fibrosis diarrhea dysentery ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 embryoma eosinophilic esophagitis essential hypertension extraosseous Ewing sarcoma extraosseous Ewings sarcoma-primitive neuroepithelial tumor familial adenomatous polyposis 1 familial adenomatous polyposis gastritis gastroenteritis gastrointestinal system disease gestational diabetes gingival recession hypertension ileitis ileocolitis immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome inflammatory bowel disease 1 inflammatory bowel disease intestinal disease intestinal infectious disease intrinsic asthma irritable bowel syndrome islet cell tumor kwashiorkor lactic acidosis lactose intolerance large intestine cancer lupus erythematosus marasmus myocardial infarction neurocirculatory asthenia newborn respiratory distress syndrome nutrition disease obesity obsessive-compulsive disorder oligospermia osteomyelitis osteoporosis pneumonia polycystic ovary syndrome prostate cancer prostate carcinoma protein C deficiency protein S deficiency protein-energy malnutrition schizophrenia silent myocardial infarction systemic lupus erythematosus testicular cancer thrombophilia transthyretin amyloidosis tropical sprue ulcerative colitis
P13611	Versican core protein	VCAN CSPG2	281	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 Clouston syndrome Costello syndrome Duchenne muscular dystrophy Ehlers-Danlos syndrome spondylodysplastic type 2 Marfan syndrome Pick's disease Reye syndrome Smith-McCort dysplasia T-cell acute lymphoblastic leukemia abdominal aortic aneurysm acoustic neuroma acute biphenotypic leukemia acute interstitial pneumonia acute leukemia acute myeloid leukemia acute myocardial infarction adenocarcinoma adenoid cystic carcinoma adenoma adult medulloblastoma alopecia anaplastic astrocytoma androgenic alopecia angiomatous meningioma aortic aneurysm arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy atherosclerosis benign meningioma benign mesothelioma bladder carcinoma blindness bone osteosarcoma brain cancer brain disease breast cancer breast carcinoma bronchiolitis obliterans bronchus cancer bronchus carcinoma cancer carcinoma cardiovascular system disease cataract cellular schwannoma central nervous system cancer cerebral convexity meningioma cerebral degeneration cerebral infarction cerebrovascular disease childhood cerebral astrocytoma childhood kidney cell carcinoma childhood medulloblastoma childhood osteosarcoma chondrosarcoma choriocarcinoma chromophobe renal cell carcinoma chronic kidney disease chronic obstructive pulmonary disease ciliary body disease clear cell meningioma clear cell renal cell carcinoma collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma coronary artery disease coronary thrombosis cutaneous fibrous histiocytoma dermatofibrosarcoma protuberans diabetic ketoacidosis embryoma endometrial cancer endometrial carcinoma endometriosis of ovary endometriosis of uterus endometriosis epithelioid leiomyosarcoma eye disease fibrillary astrocytoma fibrous meningioma focal segmental glomerulosclerosis follicular adenoma gastrointestinal stromal tumor gemistocytic astrocytoma gestational trophoblastic neoplasm glaucoma gliosarcoma glomerulonephritis heart disease hepatitis B hepatitis C hepatocellular carcinoma hidradenoma high grade glioma hyperglycemia idiopathic interstitial pneumonia idiopathic pulmonary fibrosis inflammatory bowel disease 1 inflammatory bowel disease intermittent claudication intracranial aneurysm intraorbital meningioma intraventricular meningioma iris disease juvenile pilocytic astrocytoma kidney cancer kidney disease kidney failure large intestine cancer laryngeal benign neoplasm laryngeal carcinoma laryngeal disease laryngeal squamous cell carcinoma larynx cancer lateral meningocele syndrome leiomyoma leiomyosarcoma liver cancer liver carcinoma lung benign neoplasm lung cancer lung carcinoma lung disease malignant astrocytoma malignant epithelial mesothelioma malignant mesothelioma malignant peripheral nerve sheath tumor medulloblastoma medullomyoblastoma melanoma melanotic medulloblastoma melanotic neurilemmoma meningioma meningothelial meningioma microcystic adenoma microcystic meningioma microphthalmia mixed glioma multiple myeloma muscular dystrophy myocardial infarction myofibroma myopia myxoid leiomyosarcoma nephritis nephrosis neurilemmoma neuroblastoma neurodegenerative disease neuroendocrine carcinoma neuroendocrine tumor neurogenic arthropathy nodular prostate nonpapillary renal cell carcinoma obsolete Matthew-Wood syndrome obsolete type 1 diabetes mellitus 9 olfactory groove meningioma optic atrophy osteosarcoma ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma panuveitis papillary adenoma papillary renal cell carcinoma parasagittal meningioma pilocytic astrocytoma pituitary adenoma placenta cancer plexiform schwannoma pneumonia polycystic ovary syndrome prostate adenocarcinoma prostate cancer prostate carcinoma prostatic adenoma protoplasmic astrocytoma psammomatous meningioma pulmonary emphysema pulmonary fibrosis pyoureter renal carcinoma renal cell carcinoma renal osteodystrophy salivary gland adenoid cystic carcinoma salivary gland cancer sarcomatoid carcinoma sarcomatoid renal cell carcinoma secretory meningioma silent myocardial infarction situs inversus skin benign neoplasm skin cancer skin melanoma skin papilloma skin tag spinal meningioma spondylitis spondyloarthropathy spondylosis stomach cancer stomach carcinoma subependymal giant cell astrocytoma syringoma tendinitis thoracic aortic aneurysm thyroid adenoma thyroid cancer thyroid gland carcinoma tracheal disease transitional meningioma 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 ulcerative colitis urinary bladder cancer uterine corpus cancer uterine fibroid uveitis vascular disease
Q15392	Delta(24)-sterol reductase	DHCR24 KIAA0018	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 Clouston syndrome Creutzfeldt-Jakob disease Huntington's disease-like 1 Huntington's disease-like 2 Huntington's disease Joubert syndrome Laron syndrome Marfan syndrome Miller-Dieker lissencephaly syndrome Pick's disease Potter's syndrome Q fever Reye syndrome X-linked chondrodysplasia punctata 1 X-linked chondrodysplasia punctata 2 achondroplasia acoustic neuroma actinic keratosis acute myocardial infarction adenocarcinoma adenoma adrenal adenoma adrenal carcinoma adrenal cortex cancer adrenal gland cancer adrenocortical carcinoma adult cystic teratoma adult respiratory distress syndrome adult teratoma angiomatous meningioma arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthropathy atherosclerosis autism spectrum disorder autistic disorder autosomal dominant chondrodysplasia punctata autosomal dominant osteopetrosis 2 autosomal recessive osteopetrosis 7 bacterial sepsis benign meningioma bilateral renal aplasia bladder carcinoma brain cancer breast cancer breast carcinoma breast fibroadenoma bronchus cancer bronchus carcinoma cancer carcinoma central nervous system cancer cerebral convexity meningioma cerebral degeneration cerebral infarction cerebrovascular disease cervical adenocarcinoma cervical cancer cervix carcinoma chondrodysplasia punctata chromophobe renal cell carcinoma chronic kidney disease chronic obstructive pulmonary disease clear cell meningioma clear cell renal cell carcinoma cleft palate clubfoot collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer communicating hydrocephalus complex cortical dysplasia with other brain malformations 1 complex cortical dysplasia with other brain malformations 7 congenital nystagmus coronary artery disease coronary thrombosis cortical dysplasia-focal epilepsy syndrome cribriform carcinoma cutaneous mastocytosis cystic teratoma diffuse cutaneous mastocytosis disorder of sexual development dissociated nystagmus embryoma endometrial cancer endometrial carcinoma epilepsy epithelioid leiomyosarcoma epithelioid sarcoma esophageal cancer esophageal carcinoma familial adenomatous polyposis fibrous meningioma follicular adenoma giant cell glioblastoma gingival overgrowth glioblastoma gliosarcoma glucose metabolism disease granular cell carcinoma head and neck squamous cell carcinoma hepatitis C hepatocellular carcinoma hermaphroditism high grade glioma hydranencephaly hydrocephalus hypertropia inflammatory breast carcinoma insulinoma intellectual disability intraorbital meningioma intraventricular meningioma invasive ductal carcinoma islet cell tumor isolated cleft palate kidney cancer large intestine cancer learning disability leiomyoma leiomyosarcoma lissencephaly liver cancer lung benign neoplasm lung cancer lung carcinoma lung disease lung non-small cell carcinoma lymphoplasmacyte-rich meningioma malignant teratoma mastocytosis mature teratoma mechanical strabismus melanoma meningioma meningothelial meningioma microcephaly microcystic adenoma microcystic meningioma migraine without aura mixed glioma multiple myeloma multiple sclerosis myocardial infarction myofibroma myxoid leiomyosarcoma nasopharynx carcinoma neuroblastoma neurodegenerative disease neurogenic arthropathy obstructive hydrocephalus olfactory groove meningioma ophthalmoplegia osteomyelitis osteopetrosis osteosclerosis ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma papillary adenocarcinoma papillary adenoma papillary renal cell carcinoma parasagittal meningioma patent ductus arteriosus pathologic nystagmus pituitary adenoma placental insufficiency pontocerebellar hypoplasia type 2D pontocerebellar hypoplasia type 7 pontocerebellar hypoplasia type 8 pontocerebellar hypoplasia type 9 prostate cancer prostate carcinoma psammomatous meningioma pseudohermaphroditism rectal benign neoplasm rectum adenocarcinoma rectum cancer relapsing-remitting multiple sclerosis renal cell carcinoma rhizomelic chondrodysplasia punctata type 1 rhizomelic chondrodysplasia punctata type 2 rhizomelic chondrodysplasia punctata type 3 sarcoma sarcomatoid carcinoma sarcomatoid renal cell carcinoma scimitar syndrome seborrheic keratosis secretory meningioma senile degeneration of brain septooptic dysplasia serous cystadenocarcinoma short-rib thoracic dysplasia 14 with polydactyly silent myocardial infarction situs inversus skin atrophy skin disease skin melanoma spinal meningioma spindle cell sarcoma spontaneous ocular nystagmus status epilepticus strabismus syndromic X-linked intellectual disability Najm type synovitis tenosynovitis teratoma thyroid gland papillary carcinoma transient cerebral ischemia transitional cell carcinoma transitional meningioma trigeminal neuralgia trypanosomiasis tuberous sclerosis tubular adenocarcinoma typhus ureteric orifice cancer urinary bladder cancer urticaria pigmentosa uterine corpus cancer uterine fibroid vertebrobasilar insufficiency visual epilepsy
P08236	Beta-glucuronidase	GUSB	7	38	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 Clouston syndrome Crohn's colitis Crohn's disease De Quervain disease Fabry disease Laron syndrome Pick's disease Reye syndrome Richter's syndrome Sly syndrome Werner syndrome achondroplasia acute myeloid leukemia adenocarcinoma adenoma adenosarcoma adrenal gland cancer alcohol dependence alcohol use disorder alternating hemiplegia of childhood arteriosclerotic cardiovascular disease arteriovenous malformation arthritis arthropathy atherosclerosis autonomic neuropathy bladder carcinoma bone marrow cancer breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma cardiomyopathy central nervous system disease cerebral degeneration cholecystolithiasis choledocholithiasis cholelithiasis chondrodysplasia punctata chronic lymphocytic leukemia chronic myeloid leukemia chylomicron retention disease clubfoot colitis colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma communicating hydrocephalus congestive heart failure coronary artery disease cystic fibrosis diabetes mellitus diabetic ketoacidosis diarrhea duodenum cancer elephantiasis embryoma endomyocardial fibrosis factor VIII deficiency familial adenomatous polyposis 1 familial adenomatous polyposis follicular adenoma gallbladder disease gastroenteritis gastrointestinal system disease gingival hypertrophy gingival overgrowth glycoproteinosis head and neck cancer head and neck squamous cell carcinoma heart cancer hepatitis B hepatitis C hepatitis hepatocellular carcinoma herpes simplex hydrocephalus hyperglycemia hypertrichosis hypertrophic cardiomyopathy ileitis ileocolitis inflammatory bowel disease 1 inflammatory bowel disease inguinal hernia intellectual disability intestinal disease islet cell tumor large intestine cancer learning disability lipid storage disease liver cancer liver disease lung adenocarcinoma lung cancer lung carcinoma lymphedema lysosomal storage disease microcystic adenoma mucolipidosis II alpha/beta mucopolysaccharidosis I mucopolysaccharidosis II mucopolysaccharidosis III mucopolysaccharidosis IV mucopolysaccharidosis Ih mucopolysaccharidosis VI mucopolysaccharidosis myeloproliferative neoplasm nasopharynx carcinoma nephroblastoma nervous system disease neuroblastoma neurodegenerative disease obstructive hydrocephalus omphalocele ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma papillary adenocarcinoma papillary adenoma papillary renal cell carcinoma paraganglioma pheochromocytoma progeria prostate cancer prostate carcinoma proteinuria pulmonary tuberculosis recurrent corneal erosion retinal disease retinitis rheumatoid arthritis sarcomatoid carcinoma schizophrenia scoliosis senile degeneration of brain sensorineural hearing loss shigellosis small intestine cancer stomach cancer stomach carcinoma subacute thyroiditis thyroid adenoma thyroid cancer thyroid gland carcinoma thyroid gland papillary carcinoma tuberculosis tuberculous pneumothorax type 2 diabetes mellitus ulcerative colitis umbilical hernia urinary bladder cancer
O00154	Cytosolic acyl coenzyme A thioester hydrolase	ACOT7 BACH	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 Clouston syndrome Duchenne muscular dystrophy Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Pick's disease Plasmodium falciparum malaria Plasmodium vivax malaria Reye syndrome acute monocytic leukemia acute myeloid leukemia acute myocardial infarction adenocarcinoma adenoma adrenal carcinoma adrenal cortex cancer adrenocortical carcinoma allergic asthma arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease asthma atherosclerosis atrial fibrillation bacterial infectious disease beta thalassemia blood coagulation disease breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer central nervous system cancer cerebral degeneration cerebral infarction cerebrovascular disease chromophobe renal cell carcinoma chronic obstructive pulmonary disease clear cell renal cell carcinoma collecting duct carcinoma colorectal cancer complex partial epilepsy congestive heart failure coronary artery disease coronary thrombosis cribriform carcinoma dementia depressive disorder diabetes mellitus diabetic ketoacidosis diarrhea disease of mental health distal arthrogryposis dysentery dysthymic disorder eating disorder embryoma epilepsy esophagus squamous cell carcinoma female stress incontinence gallbladder disease gestational diabetes gestational trophoblastic neoplasm giant cell glioblastoma glioblastoma gliosarcoma glucose intolerance granular cell carcinoma head and neck squamous cell carcinoma hepatitis A hepatitis hepatocellular carcinoma high grade glioma hypereosinophilic syndrome inclusion body myositis infertility intrinsic asthma kwashiorkor large intestine cancer leprosy liver cancer liver carcinoma liver disease lung benign neoplasm lung cancer lung carcinoma major depressive disorder malaria marasmus melancholic depression mixed glioma multiple sclerosis muscular dystrophy myocardial infarction neuroendocrine carcinoma neuroendocrine tumor neuropathy neurotic disorder nonpapillary renal cell carcinoma nutrition disease obsolete inherited blood coagulation disease obsolete melancholia obsolete type 1 diabetes mellitus 9 obstructive lung disease osteomyelitis ovarian cancer ovarian carcinoma papillary renal cell carcinoma peripheral nervous system disease peroxisome biogenesis disorder 7A pertussis polyneuropathy postpartum depression pre-eclampsia prediabetes syndrome primary open angle glaucoma primary ovarian insufficiency primary pulmonary hypertension progressive pseudorheumatoid arthropathy of childhood prostate cancer prostate carcinoma protein-energy malnutrition psychotic disorder pulmonary tuberculosis renal carcinoma renal cell carcinoma rheumatoid arthritis sarcomatoid renal cell carcinoma schizoaffective disorder schizophrenia schizophreniform disorder scleroderma sick sinus syndrome silent myocardial infarction spermatic cord torsion systemic scleroderma temporal lobe epilepsy thalassemia tuberculosis tuberculous pneumothorax tubular adenocarcinoma type 1 diabetes mellitus 10 type 1 diabetes mellitus 11 type 1 diabetes mellitus 12 type 1 diabetes mellitus 13 type 1 diabetes mellitus 15 type 1 diabetes mellitus 17 type 1 diabetes mellitus 18 type 1 diabetes mellitus 19 type 1 diabetes mellitus 20 type 1 diabetes mellitus 21 type 1 diabetes mellitus 22 type 1 diabetes mellitus 23 type 1 diabetes mellitus 24 type 1 diabetes mellitus 2 type 1 diabetes mellitus 3 type 1 diabetes mellitus 4 type 1 diabetes mellitus 5 type 1 diabetes mellitus 6 type 1 diabetes mellitus 7 type 1 diabetes mellitus 8 type 1 diabetes mellitus type 2 diabetes mellitus urethral intrinsic sphincter deficiency viral infectious disease visual epilepsy
P49748	Very long-chain specific acyl-CoA dehydrogenase, mitochondrial	ACADVL VLCAD	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 Clouston syndrome Pearson syndrome Pick's disease Reye syndrome X-linked dilated cardiomyopathy abdominal obesity-metabolic syndrome 1 adrenal adenoma adrenal cortex cancer alpha 1-antitrypsin deficiency 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 atrioventricular block cardiomyopathy 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 cerebral degeneration complement component 2 deficiency congenital adrenal hyperplasia dermatitis 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 endomyocardial fibrosis familial hypertrophic cardiomyopathy familial periodic paralysis gallbladder disease hemopericardium hypercalcemia hypertrophic cardiomyopathy hypoglycemia isolated elevated serum creatine phosphokinase levels lactic acidosis liver disease macroglobulinemia metabolic dysfunction-associated steatotic liver disease mitochondrial trifunctional protein deficiency myopathy nephrocalcinosis obesity obsolete lymphoplasmacytic lymphoma patent foramen ovale pericardial effusion phosphorus metabolism disease placental insufficiency pneumonia pseudosarcomatous fibromatosis sensorineural hearing loss steatotic liver disease urea cycle disorder ventricular septal defect very long chain acyl-CoA dehydrogenase deficiency von Willebrand's disease 2 von Willebrand's disease
P06744	Glucose-6-phosphate isomerase	GPI	3	4	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 Cockayne syndrome Cornelia de Lange syndrome Creutzfeldt-Jakob disease Down syndrome Dubowitz 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 Pick's disease Plasmodium vivax malaria Prader-Willi syndrome Reye syndrome Robinow syndrome Seckel syndrome Silver-Russell syndrome X-linked Aarskog syndrome abdominal obesity-metabolic syndrome 1 acquired immunodeficiency syndrome acute myeloid leukemia acute myocardial infarction adult fibrosarcoma adult lymphoma alternating hemiplegia of childhood anemia antiphospholipid syndrome aplastic anemia arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy atherosclerosis atrophic gastritis atypical hemolytic-uremic syndrome autoimmune disease autoimmune hepatitis autoimmune lymphoproliferative syndrome autoimmune polyendocrine syndrome autonomic neuropathy autosomal dominant Robinow syndrome 1 autosomal dominant Robinow syndrome 2 autosomal dominant Robinow syndrome 3 autosomal recessive Robinow syndrome benign mesothelioma blastomycosis bone osteosarcoma brain stem infarction breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer central nervous system cancer central nervous system disease central nervous system lymphoma cerebral artery occlusion cerebral degeneration cerebral infarction cerebrovascular disease childhood leukemia childhood lymphoma childhood osteosarcoma cholecystitis chondrodysplasia-pseudohermaphroditism syndrome chromophobe renal cell carcinoma chronic fatigue syndrome chronic myeloid leukemia clear cell renal cell carcinoma collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma common cold congenital diaphragmatic hernia congenital disorder of glycosylation congenital hemolytic anemia congenital nonspherocytic hemolytic anemia coronary artery disease coronary thrombosis cystinuria depressive disorder diabetes mellitus diabetic ketoacidosis differentiated thyroid gland carcinoma diffuse large B-cell lymphoma dysthymic disorder dystonia embryoma encephalitis encephalomyelitis endocarditis endometrial cancer endometrial carcinoma essential hypertension essential thrombocythemia familial retinoblastoma favism female stress incontinence fetal erythroblastosis fibrosarcoma focal hand dystonia galactosemia generalized dystonia giant cell glioblastoma glioblastoma gliosarcoma glucosephosphate dehydrogenase deficiency glycogen storage disease Ia glycogen storage disease head and neck squamous cell carcinoma hematologic cancer hemoglobinopathy hemolytic anemia hemolytic-uremic syndrome hepatitis B hepatitis hepatocellular carcinoma hereditary elliptocytosis high grade glioma human immunodeficiency virus infectious disease hypertension immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome immune system disease infective endocarditis inflammatory and toxic neuropathy influenza intellectual disability intracranial embolism large intestine cancer learning disability leukemia liver cancer lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lupus erythematosus lymphoma macrocytic anemia major depressive disorder malignant hyperthermia malignant mesothelioma melancholic depression microcephalic osteodysplastic primordial dwarfism type I microcephalic osteodysplastic primordial dwarfism type II microphthalmia migraine mixed glioma multiple sclerosis myelitis myelodysplastic syndrome myocardial infarction neonatal anemia neonatal jaundice nervous system disease neurogenic arthropathy neurotic disorder nonpapillary renal cell carcinoma obsolete Matthew-Wood syndrome obsolete melancholia obsolete type 1 diabetes mellitus 9 obsolete ymphosarcoma osteoarthritis osteosarcoma ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma pancreatitis pancytopenia papillary adenocarcinoma papillary renal cell carcinoma paracoccidioidomycosis paroxysmal nocturnal hemoglobinuria peeling skin syndrome placental insufficiency platelet-type bleeding disorder 3 pre-eclampsia primary immunodeficiency disease primary pulmonary hypertension prion disease pure red-cell aplasia renal carcinoma renal cell carcinoma respiratory syncytial virus infectious disease retinoblastoma rheumatoid arthritis sarcomatoid renal cell carcinoma scleroderma silent myocardial infarction skin atrophy steatotic liver disease stomach cancer stomach carcinoma subacute bacterial endocarditis syndromic X-linked intellectual disability Snyder type syndromic intellectual disability synovitis systemic lupus erythematosus systemic scleroderma tenosynovitis thrombophilia thrombotic thrombocytopenic purpura thyroid gland anaplastic carcinoma thyroid gland papillary carcinoma trilateral retinoblastoma 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 uterine corpus cancer vascular dementia vascular disease viral infectious disease von Willebrand's disease
P49585	Choline-phosphate cytidylyltransferase A	PCYT1A CTPCT PCYT1	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 Cockayne syndrome Down syndrome Graves' disease Laron syndrome Leber congenital amaurosis Pick's disease Prinzmetal angina Reye syndrome Richter's syndrome Turner syndrome X-linked dilated cardiomyopathy abdominal aortic aneurysm abdominal obesity-metabolic syndrome 1 achondroplasia achromatopsia acquired color blindness acute chest syndrome acute myeloid leukemia acute myocardial infarction acute vascular insufficiency of intestine adult medulloblastoma alopecia anxiety disorder aortic aneurysm aortitis appendicitis arteriosclerotic cardiovascular disease arteriovenous malformation arteriovenous malformations of the brain astigmatism 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 atrioventricular septal defect atypical chronic myeloid leukemia, BCR-ABL1 negative autism spectrum disorder autistic disorder autoimmune thyroiditis blindness blue color blindness bone disease bone marrow cancer bone osteosarcoma brain cancer brain stem infarction bronchus cancer bronchus carcinoma cancer cardiac tamponade carotid artery thrombosis carotid stenosis cartilage disease cataract central sleep apnea cerebellar ataxia cerebellar disease cerebral artery occlusion cerebral degeneration cerebral infarction cerebrovascular disease childhood medulloblastoma childhood osteosarcoma cholangiocarcinoma chronic kidney disease chronic lymphocytic leukemia chronic monocytic leukemia chronic myeloid leukemia collagen disease colon cancer colon carcinoma colonic benign neoplasm color blindness 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 nystagmus congenital stationary night blindness 1A congenital stationary night blindness connective tissue disease corneal disease coronary artery anomaly coronary artery disease coronary stenosis coronary thrombosis 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 dissociated nystagmus embryoma embryonal cancer endocarditis epilepsy episodic kinesigenic dyskinesia 1 esophageal cancer esophageal carcinoma essential hypertension extramedullary plasmacytoma familial adenomatous polyposis fibromyalgia fundus dystrophy generalized anxiety disorder germ cell and embryonal cancer germ cell cancer germinoma giant cell glioblastoma glioblastoma gonadal dysgenesis head and neck cancer hematologic cancer hepatitis B hepatitis C hepatocellular carcinoma high grade glioma hypertension hyperthyroidism impotence infective endocarditis insulinoma intellectual disability intermittent claudication intracranial aneurysm intracranial thrombosis intrahepatic cholangiocarcinoma intussusception islet cell tumor keratoconus large intestine cancer learning disability lipoatrophic diabetes mellitus lipodystrophy liver cancer lung benign neoplasm lung cancer lung carcinoma lymphoid leukemia medulloblastoma medullomyoblastoma melanoma melanotic medulloblastoma multiple myeloma myeloid leukemia myelomeningocele myeloproliferative neoplasm myocardial infarction myopia neuroendocrine carcinoma neuroendocrine tumor night blindness nutmeg liver obsolete asthenopia osteoarthritis osteosarcoma ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma papillary adenocarcinoma papillary renal cell carcinoma patent foramen ovale pathologic nystagmus peripheral artery disease peripheral vascular disease phobic disorder plasmacytoma polycythemia vera premature ejaculation primary pulmonary hypertension prostate cancer prostate carcinoma psychologic dyspareunia pterygium pulmonary embolism red color blindness red-green color blindness rheumatoid arthritis schizophrenia scoliosis seminoma sensorineural hearing loss sick sinus syndrome silent myocardial infarction skin melanoma spina bifida spinocerebellar ataxia type 8 split hand-foot malformation 1 spondyloepimetaphyseal dysplasia, Strudwick type spontaneous ocular nystagmus squamous cell carcinoma squamous cell neoplasm subacute bacterial endocarditis superior mesenteric artery syndrome testicular cancer testis seminoma tethered spinal cord syndrome thyroid gland papillary carcinoma thyrotoxicosis tongue squamous cell carcinoma type 2 diabetes mellitus urinary bladder cancer visual epilepsy
P05091	Aldehyde dehydrogenase, mitochondrial	ALDH2 ALDM	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 Cockayne syndrome Fanconi anemia complementation group A Fanconi anemia Marfan syndrome Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Patau syndrome Pick's disease Prinzmetal angina Reye syndrome Weissenbacher-Zweymuller syndrome Wernicke-Korsakoff syndrome Zollinger-Ellison syndrome abdominal obesity-metabolic syndrome 1 acute chest syndrome acute myocardial infarction acute pancreatitis adenocarcinoma adenoma adrenoleukodystrophy agnosia agranulocytosis alcohol dependence alcohol use disorder alcoholic cardiomyopathy alcoholic hepatitis alcoholic liver cirrhosis alcoholic neuropathy alcoholic pancreatitis allergic asthma amnestic disorder anemia antisocial personality disorder anxiety disorder aplastic anemia arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease asthma atherosclerosis atrial fibrillation atrophic gastritis atrophy of testis attention deficit hyperactivity disorder autistic disorder bacterial sepsis bipolar disorder bladder carcinoma brain stem infarction breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma cardiomyopathy cardiovascular system disease carotid artery disease central sleep apnea cerebral artery occlusion cerebral degeneration cerebral infarction cerebrovascular disease chronic interstitial cystitis chronic kidney disease chronic obstructive pulmonary disease cleidocranial dysplasia colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma conduct disorder congenital heart disease congenital merosin-deficient muscular dystrophy 1A congenital muscular dystrophy 1B congenital muscular dystrophy due to LMNA mutation congenital muscular dystrophy due to integrin alpha-7 deficiency congenital myopathy 1A congestive heart failure coronary artery disease coronary artery vasospasm coronary stenosis coronary thrombosis cribriform carcinoma dementia depressive disorder diabetes mellitus diabetic cataract diabetic ketoacidosis diabetic retinopathy disease of mental health dissociative amnesia dysthymic disorder embryoma endocrine exophthalmos endomyocardial fibrosis esophageal cancer esophageal carcinoma esophagus squamous cell carcinoma essential hypertension female breast carcinoma follicular adenoma gallbladder disease generalized anxiety disorder glucose intolerance granular cell carcinoma granuloma annulare head and neck cancer head and neck squamous cell carcinoma heart disease hemochromatosis type 1 hemochromatosis hemorrhoid hepatitis A hepatitis B hepatitis C hepatitis hepatocellular carcinoma heroin dependence humeroradial synostosis hyperglycemia hyperinsulinism hypertension hypertrophic cardiomyopathy hyperuricemia hypopharynx cancer interstitial cystitis intrinsic asthma kwashiorkor large intestine cancer laryngeal benign neoplasm laryngeal carcinoma laryngeal disease larynx cancer late onset Parkinson's disease leukopenia liver cancer liver carcinoma liver cirrhosis liver disease lung benign neoplasm lung cancer lung carcinoma lung disease lymphopenia macrocytic anemia major depressive disorder male infertility marasmus megaconial type congenital muscular dystrophy melancholic depression microcystic adenoma middle cerebral artery infarction mitochondrial metabolism disease mitochondrial myopathy morphine dependence muscular dystrophy-dystroglycanopathy type B1 muscular dystrophy-dystroglycanopathy type B5 muscular dystrophy-dystroglycanopathy type B6 myocardial infarction nasopharynx carcinoma nemaline myopathy neurodegenerative disease neurotic disorder neutropenia nutmeg liver nutrition disease obsolete asthenopia obsolete melancholia obsolete type 1 diabetes mellitus 9 opiate dependence oral mucosa leukoplakia oropharynx cancer osteonecrosis osteoporosis ovarian cancer ovarian carcinoma pancreas disease pancreatic cancer pancreatic carcinoma pancreatitis pancytopenia papillary adenoma parapsoriasis perinatal necrotizing enterocolitis personality disorder phobic disorder placental insufficiency prediabetes syndrome primary pulmonary hypertension protein-energy malnutrition prune belly syndrome psoriasis psychotic disorder pustulosis of palm and sole radioulnar synostosis rectal benign neoplasm rectum adenocarcinoma rectum cancer retinal disease retinitis rigid spine muscular dystrophy 1 sarcomatoid carcinoma schizoaffective disorder schizophrenia schizophreniform disorder sick sinus syndrome silent myocardial infarction situs inversus speech-language disorder-1 squamous cell carcinoma steatotic liver disease stomach cancer stomach carcinoma substance abuse substance-related disorder tetralogy of Fallot tongue squamous cell carcinoma tracheal disease tuberculosis 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 vascular disease viral infectious disease white sponge nevus
P78380	Oxidized low-density lipoprotein receptor 1	OLR1 CLEC8A LOX1	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 Cockayne syndrome Kawasaki disease Pick's disease Reye syndrome abdominal obesity-metabolic syndrome 1 actinic keratosis acute chest syndrome acute myocardial infarction adenocarcinoma adenoma arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy atherosclerosis atrial fibrillation bone osteosarcoma brain stem infarction breast cancer breast carcinoma cancer cardiomyopathy cardiovascular system disease carpal tunnel syndrome central sleep apnea cerebral artery occlusion cerebral degeneration cerebral infarction cerebrovascular disease childhood osteosarcoma choriocarcinoma chronic kidney disease colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma congestive heart failure coronary artery disease coronary stenosis coronary thrombosis cribriform carcinoma diabetes mellitus diabetic ketoacidosis disease of metabolism embryoma endomyocardial fibrosis essential hypertension familial hypercholesterolemia familial hyperlipidemia gallbladder disease generalized atherosclerosis gestational diabetes giant cell glioblastoma glioblastoma glucose intolerance granular cell carcinoma heart disease hepatocellular carcinoma high grade glioma hyperhomocysteinemia hypertension hypertrophic cardiomyopathy juvenile rheumatoid arthritis keratitis keratoconjunctivitis kidney failure large intestine cancer liver cancer liver disease lung adenocarcinoma lung cancer multiple sclerosis multiple system atrophy myocardial infarction nutmeg liver obesity osteoarthritis osteosarcoma pancreatic cancer pancreatic carcinoma parapsoriasis placenta cancer postural orthostatic tachycardia syndrome pre-eclampsia prediabetes syndrome prostate cancer prostate carcinoma psoriasis pustulosis of palm and sole renal osteodystrophy rheumatoid arthritis seborrheic keratosis sickle cell anemia silent myocardial infarction skin disease transient cerebral ischemia tubular adenocarcinoma type 2 diabetes mellitus vascular disease vertebrobasilar insufficiency
O14756	17-beta-hydroxysteroid dehydrogenase type 6	HSD17B6 RODH SDR9C6	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 Coffin-Lowry syndrome Huntington's disease-like 1 Huntington's disease-like 2 Huntington's disease Japanese encephalitis Leber congenital amaurosis Leigh disease Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Pick's disease Reye syndrome Sjogren-Larsson syndrome autoimmune hepatitis autosomal dominant cerebellar ataxia autosomal recessive congenital ichthyosis 1 breast cancer breast carcinoma bronchus cancer bronchus carcinoma bullous pemphigoid cancer cerebral degeneration chromophobe renal cell carcinoma chronic obstructive pulmonary disease clear cell renal cell carcinoma collecting duct carcinoma cone-rod dystrophy congenital adrenal hyperplasia dengue disease diabetes mellitus embryoma endometrial cancer endometrial carcinoma exocrine pancreatic insufficiency fundus albipunctatus fundus dystrophy gallbladder disease hepatitis ichthyosis keratosis follicularis liver disease lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma melioidosis mitochondrial metabolism disease mitochondrial myopathy mongolian spot multiple sclerosis neuroblastoma neurofibromatosis 1 neurofibromatosis nonpapillary renal cell carcinoma obsolete congenital ichthyosiform erythroderma optic atrophy papillary renal cell carcinoma paraplegia polycystic ovary syndrome prostate cancer prostate carcinoma pseudoxanthoma elasticum renal carcinoma renal cell carcinoma retinitis pigmentosa rheumatoid arthritis sarcomatoid renal cell carcinoma shigellosis spinocerebellar ataxia type 1 systemic lupus erythematosus tuberculosis type 2 diabetes mellitus uterine corpus cancer viral infectious disease yellow fever
O43292	Glycosylphosphatidylinositol anchor attachment 1 protein	GPAA1 GAA1	2	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 Cogan syndrome Friedreich ataxia 1 Friedreich ataxia Pick's disease Reye syndrome agnosia apraxia bladder carcinoma blindness breast cancer breast carcinoma cancer cerebral degeneration colorectal cancer colorectal carcinoma congenital nystagmus diffuse interstitial keratitis dissociated nystagmus embryoma epilepsy head and neck squamous cell carcinoma hepatocellular carcinoma intellectual disability large intestine cancer learning disability liver cancer liver cirrhosis myopia optic atrophy osteoporosis pathologic nystagmus spontaneous ocular nystagmus squamous cell carcinoma status epilepticus stomach cancer stomach carcinoma tongue squamous cell carcinoma urinary bladder cancer visual epilepsy
Q12860	Contactin-1	CNTN1	11	21	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 Compton-North congenital myopathy Guillain-Barre syndrome Huntington's disease-like 1 Huntington's disease-like 2 Huntington's disease Miller Fisher syndrome Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Pick's disease Reye syndrome adenocarcinoma adenoma arthritis arthropathy attention deficit hyperactivity disorder breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer central nervous system cancer cerebral degeneration chronic inflammatory demyelinating polyneuritis chronic inflammatory demyelinating polyradiculoneuropathy colorectal cancer colorectal carcinoma congenital merosin-deficient muscular dystrophy 1A congenital muscular dystrophy 1B congenital muscular dystrophy due to LMNA mutation congenital muscular dystrophy due to integrin alpha-7 deficiency congenital myopathy 1A craniosynostosis cribriform carcinoma embryoma esophageal cancer esophageal carcinoma esophagus squamous cell carcinoma familial adenomatous polyposis 1 familial adenomatous polyposis familial nephrotic syndrome familial periodic paralysis fetal akinesia deformation sequence syndrome 1 fetal akinesia deformation sequence syndrome gliosarcoma granular cell carcinoma high grade glioma islet cell tumor large intestine cancer lipoid nephrosis lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lung small cell carcinoma megaconial type congenital muscular dystrophy membranous glomerulonephritis mixed glioma multiple sclerosis muscular dystrophy-dystroglycanopathy type B1 muscular dystrophy-dystroglycanopathy type B5 muscular dystrophy-dystroglycanopathy type B6 myopathy nemaline myopathy nephrotic syndrome neuropathy peripheral nervous system disease placental insufficiency polyhydramnios polyneuropathy progressive muscular atrophy prostate cancer prostate carcinoma rigid spine muscular dystrophy 1 spinal muscular atrophy squamous cell carcinoma stomach cancer stomach carcinoma thyroid adenoma thyroid cancer thyroid gland carcinoma tongue squamous cell carcinoma tubular adenocarcinoma
P09923	Intestinal-type alkaline phosphatase	ALPI	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 Creutzfeldt-Jakob disease Crohn's colitis Crohn's disease Huntington's disease-like 1 Huntington's disease-like 2 Huntington's disease Pick's disease Q fever Reye syndrome X-linked lymphoproliferative syndrome 2 absence epilepsy acute lymphoblastic leukemia acute myeloid leukemia adult acute lymphocytic leukemia adult lymphoma amyotrophic lateral sclerosis type 1 autoimmune pancreatitis azoospermia bladder carcinoma bone osteosarcoma breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma central nervous system lymphoma cerebral degeneration cervical adenocarcinoma cervical cancer cervix carcinoma childhood absence epilepsy childhood acute lymphocytic leukemia childhood leukemia childhood lymphoma childhood osteosarcoma cholangiocarcinoma choriocarcinoma chromophobe renal cell carcinoma chronic myeloid leukemia chronic obstructive pulmonary disease clear cell renal cell carcinoma collecting duct carcinoma colorectal cancer colorectal carcinoma congenital disorder of glycosylation diabetes mellitus diabetic ketoacidosis embryoma endemic goiter endometriosis of uterus endometriosis essential thrombocythemia fragile X syndrome giant cell glioblastoma glaucoma glioblastoma goiter hematologic cancer hepatocellular carcinoma high grade glioma idiopathic interstitial pneumonia idiopathic pulmonary fibrosis inflammatory bowel disease 1 inflammatory bowel disease intrahepatic cholangiocarcinoma large intestine cancer leukemia liver cancer liver cirrhosis lung benign neoplasm lung cancer lung carcinoma lymphoma malignant pleural mesothelioma melanoma multiple myeloma myelodysplastic syndrome myelofibrosis nasopharynx carcinoma neuroblastoma nonpapillary renal cell carcinoma obsolete ymphosarcoma obstructive lung disease osteosarcoma pancreatic adenocarcinoma pancreatic cancer pancreatic carcinoma papillary renal cell carcinoma placenta cancer progressive muscular atrophy prostate cancer prostate carcinoma renal carcinoma renal cell carcinoma rhabdomyosarcoma sarcomatoid carcinoma sarcomatoid renal cell carcinoma skin melanoma spinal muscular atrophy substernal goiter thyroid gland disease trypanosomiasis tuberculosis type 2 diabetes mellitus typhus ulcerative colitis urinary bladder cancer uveal melanoma
O43426	Synaptojanin-1	SYNJ1 KIAA0910	7	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 Creutzfeldt-Jakob disease Down syndrome Duchenne muscular dystrophy Joubert syndrome 1 Joubert syndrome Laron syndrome Parkinson's disease 19A Parkinson's disease 1 Parkinson's disease 20 Parkinson's disease 23 Parkinson's disease 2 Parkinson's disease 4 Parkinson's disease Pick's disease Reye syndrome Unverricht-Lundborg syndrome achondroplasia amnestic disorder amyotrophic lateral sclerosis anodontia attention deficit hyperactivity disorder autistic disorder 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 bipolar disorder blepharospasm blindness borderline personality disorder brain disease cerebral degeneration cone-rod dystrophy congenital muscular dystrophy congenital nystagmus congenital ptosis dementia developmental and epileptic encephalopathy 1 developmental and epileptic encephalopathy 53 dissociated nystagmus distal myopathy dystonia early infantile epileptic encephalopathy early myoclonic encephalopathy early-onset Parkinson's disease epilepsy esophagitis facioscapulohumeral muscular dystrophy focal hand dystonia fundus albipunctatus gastroesophageal reflux disease giant cell glioblastoma glioblastoma high grade glioma intellectual disability intermittent explosive disorder isolated elevated serum creatine phosphokinase levels learning disability limb-girdle muscular dystrophy lingual-facial-buccal dyskinesia locked-in syndrome microcephaly muscular dystrophy myofibrillar myopathy 1 myofibrillar myopathy 3 neuroblastoma neurodegenerative disease 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 optic atrophy pathologic nystagmus peptic esophagitis progressive muscular atrophy ptosis quadriplegia retinal degeneration retinitis pigmentosa retrograde amnesia rhabdomyosarcoma rippling muscle disease 2 scoliosis secondary Parkinson disease spontaneous ocular nystagmus status epilepticus tauopathy tooth agenesis visual epilepsy
P09104	Gamma-enolase	ENO2	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 Creutzfeldt-Jakob disease Down syndrome Ewing sarcoma Gilbert syndrome Gilles de la Tourette syndrome Guillain-Barre syndrome Hirschsprung's disease IGSF1 deficiency syndrome Leber congenital amaurosis Leber hereditary optic neuropathy Lewy body dementia Lyme disease Miller Fisher syndrome Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Pick's disease Rett syndrome Reye syndrome Sveinsson chorioretinal atrophy T-cell acute lymphoblastic leukemia abdominal obesity-metabolic syndrome 1 acoustic neuroma acute lymphoblastic leukemia acute myeloid leukemia acute myocardial infarction adenocarcinoma adenoma adenosarcoma adrenal carcinoma adrenal cortex cancer adrenocortical carcinoma adult T-cell leukemia/lymphoma adult acute lymphocytic leukemia adult lymphoma adult oligodendroglioma allergic asthma alternating hemiplegia of childhood angiomatous meningioma anorectal stricture aseptic meningitis asphyxia neonatorum asthma atrial fibrillation autism spectrum disorder autistic disorder autoimmune disease autoimmune lymphoproliferative syndrome autonomic neuropathy bacterial meningitis bacterial sepsis benign meningioma bilirubin metabolic disorder bladder carcinoma bladder urothelial carcinoma brain cancer brain ischemia brain stem infarction breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma cardiac arrest central nervous system disease central nervous system lymphoma cerebellar ataxia cerebellar disease cerebral artery occlusion cerebral convexity meningioma cerebral degeneration cerebral infarction cerebral primitive neuroectodermal tumor cerebrovascular disease childhood acute lymphocytic leukemia childhood leukemia childhood lymphoma childhood oligodendroglioma chromophobe renal cell carcinoma chronic tic disorder clear cell meningioma clear cell renal cell carcinoma collecting duct carcinoma complex partial epilepsy congenital heart disease congenital hypothyroidism congenital nongoitrous hypothyroidism 1 congenital nongoitrous hypothyroidism 2 congenital nongoitrous hypothyroidism 3 congenital nongoitrous hypothyroidism 4 congenital nongoitrous hypothyroidism 5 congenital nongoitrous hypothyroidism 6 congestive heart failure coronary thrombosis cribriform carcinoma depressive disorder diabetes mellitus diabetic autonomic neuropathy diabetic ketoacidosis diabetic neuropathy diabetic polyneuropathy diffuse large B-cell lymphoma embryoma encephalitis encephalomyelitis endometrial carcinoma epilepsy eye disease familial retinoblastoma fibrous meningioma focal epilepsy follicular adenoma giant cell glioblastoma glioblastoma glomerulonephritis glycogen storage disease IV glycogen storage disease VI glycogen storage disease VII granular cell carcinoma heroin dependence high grade glioma hyperglycemia hypoglycemia hypothyroidism immune system disease impotence intracranial hypertension intraorbital meningioma intraventricular meningioma intrinsic asthma kidney disease leukemia lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung disease lung non-small cell carcinoma lung oat cell carcinoma lung small cell carcinoma lymphoblastic lymphoma lymphoma major depressive disorder malaria malignant teratoma medulloblastoma medulloepithelioma melancholic depression melanoma meningioma meningoencephalitis meningothelial meningioma microcystic adenoma microcystic meningioma mixed oligodendroglioma-astrocytoma morphine dependence myelitis myeloproliferative disorder with eosinophilia myocardial infarction myxedema nephritis nephroblastoma nephrosis nervous system cancer nervous system disease neuroblastoma neurodegeneration with brain iron accumulation 5 neurodegenerative disease neuroectodermal tumor neuroendocrine carcinoma neuroendocrine tumor neurofibromatosis 1 neurofibromatosis neuropathy neurotic disorder nodular prostate nonpapillary renal cell carcinoma obesity obsolete embryonal Tumor with Multilayered Rosettes, C19MC-Altered obsolete melancholia obsolete type 1 diabetes mellitus 9 obsolete ymphosarcoma olfactory groove meningioma oligodendroglioma opiate dependence optic atrophy optic papillitis ossifying fibromyxoid tumor papillary adenoma papillary carcinoma papillary renal cell carcinoma papilledema paraganglioma parasagittal meningioma partial motor epilepsy peripheral nervous system disease pineal gland cancer pineoblastoma pituitary adenoma polyneuropathy premature ejaculation primary cutaneous amyloidosis proliferative diabetic retinopathy prostate cancer prostate carcinoma prostatic adenoma psammomatous meningioma pseudotumor cerebri psychologic dyspareunia pulmonary alveolar proteinosis pulmonary large cell neuroendocrine carcinoma pulmonary tuberculosis pyoureter renal carcinoma renal cell carcinoma retinal edema retinoblastoma rhabdomyosarcoma sarcomatoid carcinoma sarcomatoid renal cell carcinoma schizophrenia secondary Parkinson disease secretory meningioma silent myocardial infarction skin melanoma spinal meningioma squamous cell carcinoma squamous cell neoplasm steatotic liver disease subacute delirium supratentorial primitive neuroectodermal tumor synovial sarcoma temporal lobe epilepsy teratoma tic disorder tick-borne encephalitis tongue squamous cell carcinoma toxic shock syndrome transient tic disorder transitional meningioma trilateral retinoblastoma tuberculosis tuberculous pneumothorax tubular adenocarcinoma type 1 diabetes mellitus 10 type 1 diabetes mellitus 11 type 1 diabetes mellitus 12 type 1 diabetes mellitus 13 type 1 diabetes mellitus 15 type 1 diabetes mellitus 17 type 1 diabetes mellitus 18 type 1 diabetes mellitus 19 type 1 diabetes mellitus 20 type 1 diabetes mellitus 21 type 1 diabetes mellitus 22 type 1 diabetes mellitus 23 type 1 diabetes mellitus 24 type 1 diabetes mellitus 2 type 1 diabetes mellitus 3 type 1 diabetes mellitus 4 type 1 diabetes mellitus 5 type 1 diabetes mellitus 6 type 1 diabetes mellitus 7 type 1 diabetes mellitus 8 type 1 diabetes mellitus type 2 diabetes mellitus urinary bladder cancer vascular disease viral meningitis visual epilepsy
O75056	Syndecan-3	SDC3 KIAA0468	32	4	Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease Creutzfeldt-Jakob disease Duchenne muscular dystrophy Pick's disease Reye syndrome abdominal obesity-metabolic syndrome 1 breast fibrocystic disease cancer cerebral degeneration chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma embryoma hepatitis C hepatocellular carcinoma liver cancer microglandular adenosis muscular dystrophy nonpapillary renal cell carcinoma pancreatic cancer pancreatic carcinoma papillary renal cell carcinoma renal carcinoma renal cell carcinoma rheumatoid arthritis sarcomatoid renal cell carcinoma
Q9Y6A2	Cholesterol 24-hydroxylase	CYP46A1 CYP46	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 Creutzfeldt-Jakob disease Huntington's disease-like 1 Huntington's disease-like 2 Huntington's disease Lennox-Gastaut syndrome Pick's disease Reye syndrome abdominal obesity-metabolic syndrome 1 age related macular degeneration amyloidosis brain disease cancer cardiac arrest cerebral degeneration cerebrovascular disease chronic fatigue syndrome colorectal cancer colorectal carcinoma degeneration of macula and posterior pole depressive disorder diabetes mellitus dysthymic disorder encephalitis encephalomyelitis giant cell glioblastoma glioblastoma high grade glioma large intestine cancer macular degeneration major depressive disorder melancholic depression multiple sclerosis myelitis neurodegenerative disease neurotic disorder obsolete melancholia primary open angle glaucoma tauopathy type 2 diabetes mellitus
P22033	Methylmalonyl-CoA mutase, mitochondrial	MMUT MUT	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 Creutzfeldt-Jakob disease Kallmann syndrome Pick's disease Reye syndrome Sheehan syndrome acoustic neuroma actinic keratosis acute pancreatitis adult medulloblastoma adult oligodendroglioma agranulocytosis ampulla of Vater carcinoma anemia angiomatous meningioma 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 bacterial sepsis basal cell carcinoma basal ganglia disease benign meningioma blepharospasm bone osteosarcoma branched-chain keto acid dehydrogenase kinase deficiency breast cancer bronchus cancer bronchus carcinoma bulbar polio cancer cardiomyopathy cataract 40 central nervous system cancer cerebral convexity meningioma cerebral degeneration cerebral infarction cerebrovascular disease cervical adenocarcinoma cervical cancer cervix carcinoma cervix disease cervix uteri carcinoma in situ childhood medulloblastoma childhood oligodendroglioma childhood osteosarcoma chromophobe renal cell carcinoma clear cell meningioma clear cell renal cell carcinoma collecting duct carcinoma colon carcinoma colorectal cancer colorectal carcinoma congestive heart failure conversion disorder diabetes mellitus diabetic ketoacidosis dilated cardiomyopathy 1A dilated cardiomyopathy disease of metabolism dissociative disorder dystonia embryoma endomyocardial fibrosis epilepsy familial retinoblastoma fibrous meningioma focal hand dystonia giant cell glioblastoma glioblastoma gliosarcoma hepatocellular carcinoma high grade glioma homocystinuria hypertrophic cardiomyopathy 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 in situ carcinoma influenza inherited metabolic disorder intellectual disability interstitial nephritis intraorbital meningioma intraventricular meningioma inverted follicular keratosis 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 keratoacanthoma kidney failure large intestine cancer laryngeal squamous cell carcinoma learning disability leukopenia liver cancer lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma macrocytic anemia mal de Meleda medulloblastoma medullomyoblastoma melanoacanthoma melanotic medulloblastoma meningioma meningothelial meningioma methylmalonic acidemia cblA type methylmalonic acidemia cblB type methylmalonic acidemia due to transcobalamin receptor defect methylmalonic acidemia methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency microcystic meningioma microphthalmia mitochondrial metabolism disease mixed glioma mixed oligodendroglioma-astrocytoma nasopharynx carcinoma neuroblastoma neutropenia nonpapillary renal cell carcinoma obesity obsolete Matthew-Wood syndrome olfactory groove meningioma oligodendroglioma optic atrophy osteosarcoma palmoplantar keratosis pancreatic cancer pancreatic carcinoma pancreatic ductal adenocarcinoma pancreatitis pancytopenia panhypopituitarism papillary adenocarcinoma papillary renal cell carcinoma parasagittal meningioma patent foramen ovale penis carcinoma in situ pituitary adenoma poliomyelitis primary immunodeficiency disease propionic acidemia psammomatous meningioma pyelonephritis renal carcinoma renal cell carcinoma renal infectious disease retinoblastoma sarcomatoid renal cell carcinoma seborrheic keratosis secretory meningioma severe congenital neutropenia skin disease skin squamous cell carcinoma spinal meningioma stomach cancer stomach carcinoma syndactyly thrombocytopenia thyroid gland anaplastic carcinoma thyroid gland papillary carcinoma transcobalamin II deficiency transitional cell carcinoma transitional meningioma trilateral retinoblastoma tropical sprue tuberculosis urea cycle disorder visual epilepsy
Q02218	2-oxoglutarate dehydrogenase complex component E1	OGDH	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 Creutzfeldt-Jakob disease Laron syndrome Leigh disease Pick's disease Reye syndrome achondroplasia alternating hemiplegia of childhood arteriosclerotic cardiovascular disease atherosclerosis autonomic neuropathy breast cancer cancer central nervous system disease cerebral degeneration colorectal cancer colorectal carcinoma communicating hydrocephalus congestive heart failure coronary artery disease embryoma hydrocephalus lactic acidosis large intestine cancer lingual-facial-buccal dyskinesia movement disease nervous system disease neuroblastoma neurodegenerative disease obstructive hydrocephalus phenylketonuria placental insufficiency primary biliary cholangitis pyruvate carboxylase deficiency disease pyruvate decarboxylase deficiency senile degeneration of brain status epilepticus urea cycle disorder viral infectious disease
Q15185	Prostaglandin E synthase 3	PTGES3 P23 TEBP	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 Creutzfeldt-Jakob disease Lyme disease Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Pick's disease Reye syndrome acute monocytic leukemia acute myeloid leukemia adenocarcinoma adenoma adult fibrosarcoma alexia aortic valve insufficiency autism spectrum disorder autistic disorder bone osteosarcoma breast cancer breast carcinoma cancer carcinoma cerebral degeneration childhood acute lymphocytic leukemia childhood osteosarcoma cribriform carcinoma cryptosporidiosis cystic fibrosis diarrhea dyslexia embryoma esophageal cancer esophageal carcinoma familial retinoblastoma fibrosarcoma granular cell carcinoma hepatitis C intrahepatic cholestasis of pregnancy lung adenocarcinoma lung cancer lung non-small cell carcinoma neurodegenerative disease osteosarcoma papillary adenocarcinoma papillary renal cell carcinoma periodontitis prostate cancer prostate carcinoma retinoblastoma sarcomatoid carcinoma schizophrenia thyroid adenoma thyroid cancer thyroid gland carcinoma thyroid gland follicular carcinoma thyroid gland papillary carcinoma toxic encephalopathy trilateral retinoblastoma tubular adenocarcinoma
O14556	Glyceraldehyde-3-phosphate dehydrogenase, testis-specific	GAPDHS GAPD2 GAPDH2 GAPDS	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 Creutzfeldt-Jakob disease Pick's disease Reye syndrome cancer cerebral degeneration diabetes mellitus diabetic ketoacidosis embryoma melanoma skin melanoma
Q99519	Sialidase-1	NEU1 NANH	3	31	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 of bone GM1 gangliosidosis type 1 GM1 gangliosidosis IgA glomerulonephritis Laron syndrome Marfan syndrome Paget's disease of bone Pick's disease Reye syndrome Unverricht-Lundborg syndrome achondroplasia acquired hyperkeratosis adenocarcinoma adenoma allergic rhinitis anaplastic astrocytoma arachnoiditis arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease aspartylglucosaminuria atherosclerosis autoimmune disease autoimmune lymphoproliferative syndrome basal cell carcinoma bile duct adenocarcinoma bile duct carcinoma biliary tract cancer bladder urothelial carcinoma blepharospasm bone osteosarcoma breast cancer breast carcinoma breast ductal carcinoma bronchus cancer bronchus carcinoma cancer carcinoma cardiomyopathy cataract cerebral degeneration childhood cerebral astrocytoma childhood osteosarcoma cholangiocarcinoma chondrodysplasia punctata chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma colorectal cancer colorectal carcinoma congenital nystagmus coronary artery disease cribriform carcinoma cutaneous Paget's disease dentatorubral-pallidoluysian atrophy dermoid cyst of ovary dissociated nystagmus early myoclonic encephalopathy embryoma endometrial adenocarcinoma endometrial cancer endometrial carcinoma endometrial serous adenocarcinoma endomyocardial fibrosis enterocele epilepsy fibrillary astrocytoma focal hand dystonia fucosidosis galactosialidosis gastroesophageal junction adenocarcinoma gemistocytic astrocytoma giant cell glioblastoma glioblastoma glomerulonephritis glucose intolerance glycoproteinosis granular cell carcinoma head and neck squamous cell carcinoma hepatocellular carcinoma high grade glioma hyperglycemia hypertrophic cardiomyopathy idiopathic interstitial pneumonia idiopathic pulmonary fibrosis immune system disease inflammatory bowel disease 1 inflammatory bowel disease influenza inguinal hernia intellectual disability intrahepatic cholangiocarcinoma invasive ductal carcinoma juvenile pilocytic astrocytoma kidney disease large intestine cancer learning disability livedoid vasculitis liver cancer lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lysosomal storage disease malignant astrocytoma mammary Paget's disease melanoma meningitis microphthalmia mucopolysaccharidosis I mucopolysaccharidosis II mucopolysaccharidosis III mucopolysaccharidosis IV mucopolysaccharidosis Ih mucopolysaccharidosis VI mucopolysaccharidosis type IVB mucopolysaccharidosis multiple epiphyseal dysplasia nephritis nervous system cancer nonpapillary renal cell carcinoma osteochondrodysplasia osteosarcoma ovarian cancer ovarian carcinoma ovary adenocarcinoma papillary carcinoma papillary renal cell carcinoma pathologic nystagmus pilocytic astrocytoma postinflammatory pulmonary fibrosis prediabetes syndrome progressive myoclonus epilepsy 1A progressive myoclonus epilepsy 4 progressive myoclonus epilepsy prostate cancer prostate carcinoma proteinuria protoplasmic astrocytoma pulmonary fibrosis recurrent corneal erosion renal carcinoma renal cell carcinoma retinal disease retinitis rheumatoid arthritis sarcomatoid carcinoma sarcomatoid renal cell carcinoma schizophrenia scoliosis sebaceous carcinoma sensorineural hearing loss serous cystadenocarcinoma situs inversus skin melanoma speech disorder spontaneous ocular nystagmus steatotic liver disease stomach cancer stomach carcinoma subependymal giant cell astrocytoma sweat gland cancer systemic lupus erythematosus tarsal-carpal coalition syndrome transitional cell carcinoma tuberous sclerosis tubular adenocarcinoma ulcerative colitis uterine corpus cancer vascular skin disease vasomotor rhinitis visual epilepsy vitiligo
Q9NR19	Acetyl-coenzyme A synthetase, cytoplasmic	ACSS2 ACAS2	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 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 alcohol dependence alcohol use disorder aortic valve insufficiency appendicitis arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthropathy atherosclerosis atrial fibrillation bacterial sepsis bladder carcinoma breast cancer breast carcinoma cancer cardiac arrest cardiovascular system disease central nervous system cancer cerebral degeneration cerebral infarction cerebrovascular disease childhood acute lymphocytic leukemia cholecystolithiasis choledocholithiasis cholelithiasis chromophobe renal cell carcinoma chronic kidney disease chronic obstructive pulmonary 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 esophagus squamous cell carcinoma essential hypertension familial adenomatous polyposis familial hypercholesterolemia gastroschisis giant cell glioblastoma glioblastoma gliosarcoma head and neck cancer heart disease hepatocellular carcinoma hiatus hernia high grade glioma human immunodeficiency virus infectious disease hypertension hypoplastic left heart syndrome impotence inflammatory bowel disease 1 inflammatory bowel disease insulinoma islet cell tumor kidney failure large intestine cancer laryngeal benign neoplasm laryngeal carcinoma larynx cancer leishmaniasis liver cancer liver carcinoma lung cancer lung non-small cell carcinoma major depressive disorder melancholic depression mixed glioma 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 papillary renal cell carcinoma peripheral artery disease pneumonia premature ejaculation primary hypertrophic osteoarthropathy 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 septic arthritis silent myocardial infarction situs inversus spinal cancer spindle cell sarcoma spondylolisthesis steatotic liver disease stomach cancer stomach carcinoma 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 bladder cancer urinary system benign neoplasm urinary system cancer uterine corpus cancer visceral leishmaniasis

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