GlyCosmos Portal

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GlyCosmos Genes

Integrated list of glycan-related genes extracted KEGG GENES Database, UniProt, GlycoGene Database (GGDB), Plant GARDEN and FlyGlycoDB. Glycan-related genes including glycosyltransferase, hydrolase activity (acting on glycosyl bonds), carbohydrate metabolic process, etc .

Source	Last Updated
FlyGlycoDB	March 25, 2024
GlycoGene Database (GGDB)	January 26, 2018
KEGG GENES Database	September 20, 2023
Plant GARDEN	May 28, 2020
UniProt	July 8, 2024

Selecting the function you want to look up from the categories displays a list narrowed down to glycan-related genes with that function (Gene Ontology).

Catalytic activity

glycosyltransferase activity

hydrolase activity, acting on glycosyl bonds

Binding

carbohydrate binding

Response to carbohydrate

Primary metabolic process

Displaying entries **393076 - 393100** of **393515** in total

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Gene ID ▼	Gene Name	Gene Symbol	Organism	Disease Ontology
4864	NPC intracellular cholesterol transporter 1	NPC1 Aliases: SLC65A1	Homo sapiens (human)	Niemann-Pick disease type C1 Niemann-Pick disease
4860	purine nucleoside phosphorylase	PNP Aliases: PUNP	Homo sapiens (human)	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 Chagas disease Evans' syndrome Huntington's disease-like 1 Huntington's disease-like 2 Huntington's disease Lesch-Nyhan syndrome MELAS syndrome MHC class II deficiency Nezelof syndrome Omenn syndrome Pick's disease Reye syndrome Richter's syndrome T cell deficiency acute lymphoblastic leukemia adenosine deaminase deficiency adult lymphoma agammaglobulinemia agnosia alternating hemiplegia of childhood anemia arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis autoimmune disease autoimmune hemolytic anemia autoimmune lymphoproliferative syndrome autoimmune thrombocytopenic purpura autonomic neuropathy bladder carcinoma breast cancer breast carcinoma cancer carcinoma carotid artery disease central nervous system disease central nervous system lymphoma central nervous system vasculitis central retinal vein occlusion cerebral degeneration cerebral malaria cerebral palsy childhood acute lymphocytic leukemia childhood lymphoma chronic lymphocytic leukemia colon cancer colon carcinoma colonic benign neoplasm colorectal cancer combined T cell and B cell immunodeficiency coronary artery disease critical illness polyneuropathy cutaneous leishmaniasis cyclic hematopoiesis developmental coordination disorder diabetic cataract diabetic retinopathy disease of metabolism embryoma esophageal cancer esophageal carcinoma fetal erythroblastosis gangliosidosis giant cell glioblastoma glioblastoma granulomatous angiitis head and neck squamous cell carcinoma hematologic cancer hepatocellular carcinoma herpes simplex high grade glioma hyperuricemia immune system disease inflammatory and toxic neuropathy intellectual disability large intestine cancer learning disability liver cancer locked-in syndrome lupus erythematosus lymphoblastic lymphoma lymphoma lymphopenia macrocytic anemia malaria maxillary sinus squamous cell carcinoma melanoma meningoencephalitis molybdenum cofactor deficiency type A monoclonal gammopathy of uncertain significance nervous system disease neuroblastoma neurodegenerative disease neuropathy obsolete T lymphocyte deficiency obsolete T-cell lymphoblastic leukemia/lymphoma obsolete ymphosarcoma osteoporosis otitis media ovarian cancer ovarian carcinoma pancreatic adenocarcinoma pancreatic cancer pancreatic carcinoma periodontal disease periodontitis peripheral T-cell lymphoma peripheral nervous system disease phosphoribosylpyrophosphate synthetase superactivity pneumonia polyneuropathy primary immunodeficiency disease prostate cancer prostate carcinoma purine nucleoside phosphorylase deficiency purine-pyrimidine metabolic disorder quadriplegia reflex sympathetic dystrophy retinal vein occlusion sarcomatoid carcinoma severe combined immunodeficiency sinusitis skin melanoma spastic diplegia spastic monoplegia spastic quadriplegic cerebral palsy substance abuse substance-related disorder systemic lupus erythematosus thyroid gland medullary carcinoma trypanosomiasis tuberculosis urinary bladder cancer urinary tract obstruction vascular disease
4759	neuraminidase 2	NEU2 Aliases: N-acetyl-alpha-neuraminidase 2 SIAL2	Homo sapiens (human)	allergic rhinitis cancer pancreatic cancer pancreatic carcinoma pancreatic ductal adenocarcinoma prostate cancer prostate carcinoma rhabdomyosarcoma stomach cancer stomach carcinoma vasomotor rhinitis
4758	neuraminidase 1	NEU1 Aliases: sialidase-1	Homo sapiens (human)	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 mucolipidosis 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
4706	NADH:ubiquinone oxidoreductase subunit AB1	NDUFAB1 Aliases: ACP ACP1 FASN2A SDAP acyl carrier protein, mitochondrial complex I SDAP subunit	Homo sapiens (human)	Alzheimer's disease HCL-V Lynch syndrome Marfan syndrome Richter's syndrome Wilson disease X-linked dilated cardiomyopathy actinic keratosis adamantinous craniopharyngioma adult lymphoma arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease ataxic cerebral palsy atherosclerosis brain cancer cancer central nervous system lymphoma central retinal vein occlusion cerebral infarction cerebrovascular disease childhood lymphoma chronic lymphocytic leukemia congenital hemolytic anemia congestive heart failure coronary artery disease craniopharyngioma cystinuria dementia dental caries dentin sensitivity 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 embryoma endometrial cancer endometrial carcinoma favism galactosemia glucosephosphate dehydrogenase deficiency glycogen storage disease Ia glycogen storage disease gonorrhea hairy cell leukemia hemochromatosis hereditary elliptocytosis iron metabolism disease lymphoma neurodegeneration with brain iron accumulation neurodegenerative disease nutmeg liver obesity obsolete ymphosarcoma osteoporosis papillary craniopharyngioma root caries situs inversus trichohepatoenteric syndrome 1 trichohepatoenteric syndrome tuberculosis tuberous sclerosis uterine corpus cancer
4684	neural cell adhesion molecule 1	NCAM1 Aliases: CD56 NCAM	Homo sapiens (human)	Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease B-cell lymphoma Balo concentric sclerosis Burkitt lymphoma Clostridium difficile colitis Creutzfeldt-Jakob disease Down syndrome Evans' syndrome Ewing sarcoma Fanconi anemia complementation group A Fanconi anemia Graves' disease HCL-V Hodgkin's granuloma Hodgkin's lymphoma, lymphocytic depletion Hodgkin's lymphoma, lymphocytic-histiocytic predominance Hodgkin's lymphoma, mixed cellularity Hodgkin's lymphoma Huntington's disease-like 1 Huntington's disease-like 2 Huntington's disease Kawasaki disease Langerhans-cell histiocytosis MHC class II deficiency Pick's disease Reye syndrome T-cell acute lymphoblastic leukemia Wolman disease X-linked dilated cardiomyopathy acoustic neuroma acute biphenotypic leukemia acute leukemia acute lymphoblastic leukemia acute megakaryocytic leukemia acute monocytic leukemia acute myeloid leukemia acute myocardial infarction acute promyelocytic leukemia adenocarcinoma in situ adenocarcinoma adenoid cystic carcinoma adenoma adenosarcoma adenosine deaminase deficiency adrenoleukodystrophy adult T-cell leukemia/lymphoma adult acute lymphocytic leukemia adult lymphoma adult-onset autosomal dominant demyelinating leukodystrophy age related macular degeneration aggressive NK-cell leukemia agranulocytosis alcohol dependence alcohol use disorder alternating hemiplegia of childhood alveolar rhabdomyosarcoma amyloidosis amyotrophic lateral sclerosis anemia aplastic anemia arteriosclerotic cardiovascular disease arthritis arthropathy ataxia telangiectasia atherosclerosis attention deficit hyperactivity disorder atypical chronic myeloid leukemia, BCR-ABL1 negative autism spectrum disorder autistic disorder autoimmune disease autoimmune lymphoproliferative syndrome type 2A autoimmune lymphoproliferative syndrome type 2B autoimmune lymphoproliferative syndrome type 3 autoimmune lymphoproliferative syndrome autoimmune thrombocytopenic purpura autoimmune thyroiditis autonomic neuropathy basal cell carcinoma bile duct adenocarcinoma bile duct adenoma bile duct carcinoma biliary atresia bipolar disorder brain cancer brain glioblastoma multiforme breast cancer breast carcinoma breast fibrocystic disease bronchiolo-alveolar adenocarcinoma bronchus cancer bronchus carcinoma cancer cannabis abuse cannabis dependence carcinoma carcinosarcoma cardiac arrest cardiomyopathy celiac disease cellular schwannoma central nervous system disease central nervous system leukemia central nervous system lymphoma cerebral cavernous malformation 1 cerebral degeneration cerebral infarction cerebrovascular disease chikungunya childhood T-cell acute lymphoblastic leukemia childhood acute lymphocytic leukemia childhood acute myeloid leukemia childhood leukemia childhood lymphoma childhood type dermatomyositis cholangiocarcinoma cholangiolocellular carcinoma chronic NK-cell lymphocytosis chronic fatigue syndrome chronic monocytic leukemia chronic myeloid leukemia chronic ulcer of skin colon lymphoma colorectal cancer colorectal carcinoma common variable immunodeficiency complement deficiency congenital hypothyroidism congestive heart failure coronary artery disease coronary thrombosis cribriform carcinoma degeneration of macula and posterior pole dengue hemorrhagic fever depressive disorder dermatomyositis dermatophytosis diabetes mellitus diabetic ketoacidosis diarrhea differentiated thyroid gland carcinoma diffuse large B-cell lymphoma dilated cardiomyopathy 1A dilated cardiomyopathy 1AA dilated cardiomyopathy 1B dilated cardiomyopathy 1BB dilated cardiomyopathy 1C dilated cardiomyopathy 1CC dilated cardiomyopathy 1D dilated cardiomyopathy 1DD dilated cardiomyopathy 1E dilated cardiomyopathy 1EE dilated cardiomyopathy 1FF dilated cardiomyopathy 1G dilated cardiomyopathy 1GG dilated cardiomyopathy 1H dilated cardiomyopathy 1HH dilated cardiomyopathy 1I dilated cardiomyopathy 1II dilated cardiomyopathy 1JJ dilated cardiomyopathy 1K dilated cardiomyopathy 1KK dilated cardiomyopathy 1L dilated cardiomyopathy 1M dilated cardiomyopathy 1NN dilated cardiomyopathy 1O dilated cardiomyopathy 1P dilated cardiomyopathy 1Q dilated cardiomyopathy 1R dilated cardiomyopathy 1S dilated cardiomyopathy 1T dilated cardiomyopathy 1U dilated cardiomyopathy 1V dilated cardiomyopathy 1W dilated cardiomyopathy 1X dilated cardiomyopathy 1Y dilated cardiomyopathy 1Z dilated cardiomyopathy 2A dilated cardiomyopathy 2B dilated cardiomyopathy disease of mental health disseminated intravascular coagulation drug dependence dysthymic disorder embryoma encephalitis encephalomyelitis endemic goiter endometrial cancer endometrial carcinoma endometrial stromal sarcoma endometriosis of uterus endometriosis epithelioid malignant peripheral nerve sheath tumor epithelioid sarcoma essential thrombocythemia extramedullary plasmacytoma familial periodic paralysis familial retinoblastoma follicular adenoma follicular lymphoma fungal infectious disease gallbladder disease gangliocytoma ganglioneuroblastoma ganglioneuroma gastrointestinal stromal tumor gastrointestinal system disease giant cell glioblastoma glioblastoma glomerulonephritis granular cell carcinoma hairy cell leukemia head and neck squamous cell carcinoma hematologic cancer hemophagocytic lymphohistiocytosis hepatitis A hepatitis B hepatitis C hepatitis hepatocellular carcinoma hereditary lymphedema I hereditary lymphedema IA hereditary lymphedema heroin dependence high grade glioma hyperthyroidism hypertrophic cardiomyopathy hypothyroidism immune system disease infectious mononucleosis inflammatory bowel disease insulinoma intestinal disease intrahepatic cholangiocarcinoma juvenile rheumatoid arthritis keratosis follicularis kidney disease large intestine cancer leprosy lethal midline granuloma leukemia leukopenia lipid storage disease liver cancer liver cirrhosis liver disease lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lung oat cell carcinoma lung small cell carcinoma lung squamous cell carcinoma lymphedema lymphoblastic lymphoma lymphoid leukemia lymphoma lymphoplasmacytic lymphoma lymphoproliferative syndrome 1 lymphoproliferative syndrome 2 lysosomal acid lipase deficiency macrocytic anemia macroglobulinemia macular degeneration major depressive disorder malignant peripheral nerve sheath tumor melancholic depression melanoma melanotic neurilemmoma microcystic adenoma microglandular adenosis middle cerebral artery infarction mixed connective tissue disease mongolian spot monoclonal gammopathy of uncertain significance monoclonal paraproteinemia mood disorder morphine dependence multicentric Castleman disease multidrug-resistant tuberculosis multiple myeloma multiple sclerosis myasthenia gravis mycosis fungoides myelitis myelodysplastic syndrome myelodysplastic/myeloproliferative neoplasm myeloid leukemia myeloid sarcoma myeloproliferative disorder with eosinophilia myocardial infarction myocarditis myopathy myxedema narcolepsy nephritis nephroblastoma nephrosis nervous system disease neurilemmoma neuroblastoma neuroendocrine carcinoma neuroendocrine tumor neurofibrosarcoma neuropathy neurotic disorder neutropenia nicotine dependence non-Hodgkin lymphoma non-Langerhans-cell histiocytosis nutmeg liver obesity obsolete T-cell lymphoblastic leukemia/lymphoma obsolete lymphoplasmacytic lymphoma obsolete major affective disorder 1 obsolete major affective disorder 2 obsolete malignant histiocytosis obsolete melancholia obsolete type 1 diabetes mellitus 9 obsolete ymphosarcoma opiate dependence opioid abuse osteoarthritis ovarian cancer ovarian carcinoma ovarian serous carcinoma oxyphilic adenoma pancreatic cancer papillary adenocarcinoma papillary adenoma papillary carcinoma papillary renal cell carcinoma parapsoriasis perinatal necrotizing enterocolitis peripheral T-cell lymphoma peripheral nervous system disease plasma cell leukemia plasma cell neoplasm plasmacytoma pleuropulmonary blastoma plexiform schwannoma primary ciliary dyskinesia 1 primary ciliary dyskinesia primary cutaneous T-cell non-Hodgkin lymphoma primary sclerosing cholangitis progressive muscular atrophy prostate cancer prostate carcinoma pseudoxanthoma elasticum psoriasis psychotic disorder pulmonary large cell neuroendocrine carcinoma pulmonary sarcoidosis purpura fulminans pustulosis of palm and sole pyoureter respiratory syncytial virus infectious disease reticulosarcoma retinoblastoma rheumatoid arthritis salivary gland adenoid cystic carcinoma sarcoidosis sarcoma sarcomatoid carcinoma schizophrenia sclerosing cholangitis severe combined immunodeficiency severe congenital neutropenia signet ring cell adenocarcinoma silent myocardial infarction skin benign neoplasm skin cancer skin melanoma skin squamous cell carcinoma spindle cell sarcoma squamous cell carcinoma stomach cancer stomach carcinoma substance abuse substance-related disorder substernal goiter systemic Epstein-Barr virus positive T-cell lymphoma of childhood systemic lupus erythematosus thrombocytopenia due to platelet alloimmunization thrombocytopenia thyroid Hurthle cell adenoma thyroid adenoma thyroid cancer thyroid gland carcinoma thyroid gland follicular carcinoma thyroid gland papillary carcinoma thyrotoxicosis tongue squamous cell carcinoma transitional cell carcinoma trilateral retinoblastoma tuberculosis tubular adenocarcinoma type 1 diabetes mellitus 10 type 1 diabetes mellitus 11 type 1 diabetes mellitus 12 type 1 diabetes mellitus 13 type 1 diabetes mellitus 15 type 1 diabetes mellitus 17 type 1 diabetes mellitus 18 type 1 diabetes mellitus 19 type 1 diabetes mellitus 20 type 1 diabetes mellitus 21 type 1 diabetes mellitus 22 type 1 diabetes mellitus 23 type 1 diabetes mellitus 24 type 1 diabetes mellitus 2 type 1 diabetes mellitus 3 type 1 diabetes mellitus 4 type 1 diabetes mellitus 5 type 1 diabetes mellitus 6 type 1 diabetes mellitus 7 type 1 diabetes mellitus 8 type 1 diabetes mellitus type 2 diabetes mellitus uterine corpus cancer uveoparotid fever viral infectious disease visceral leishmaniasis
4680	CEA cell adhesion molecule 6	CEACAM6 Aliases: CD66c	Homo sapiens (human)	Alzheimer's disease Bannayan-Riley-Ruvalcaba syndrome Barrett's esophagus Burkitt lymphoma Clostridium difficile colitis Cowden syndrome Crohn's colitis Crohn's disease Grn-related frontotemporal lobar degeneration with Tdp43 inclusions Lambert-Eaton myasthenic syndrome Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Pick's disease Reye syndrome Stickler syndrome acute lymphoblastic leukemia adenocarcinoma adenoma allergic asthma amyotrophic lateral sclerosis asthma bacterial infectious disease bile duct adenocarcinoma bile duct carcinoma bone osteosarcoma breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma cerebral degeneration childhood acute lymphocytic leukemia childhood osteosarcoma cholangiocarcinoma chromophobe renal cell carcinoma clear cell renal cell carcinoma colitis collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma cribriform carcinoma cystic fibrosis embryoma follicular adenoma frontotemporal dementia gallbladder cancer gallbladder carcinoma gastric adenocarcinoma gastroenteritis gastrointestinal system cancer gastrointestinal system disease granular cell carcinoma head and neck cancer head and neck squamous cell carcinoma ileitis ileocolitis inflammatory bowel disease 1 inflammatory bowel disease intestinal disease intrahepatic cholangiocarcinoma intrinsic asthma irritable bowel syndrome large intestine cancer laryngeal disease lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung disease lymphoblastic lymphoma microcystic adenoma multiple myeloma myelofibrosis neurocirculatory asthenia nonpapillary renal cell carcinoma osteosarcoma ovarian cancer ovarian carcinoma pancreatic adenocarcinoma pancreatic cancer pancreatic carcinoma pancreatic ductal adenocarcinoma papillary adenoma papillary renal cell carcinoma patent ductus arteriosus plasma cell neoplasm proctitis progressive muscular atrophy prostate cancer prostate carcinoma refractory plasma cell neoplasm renal carcinoma renal cell carcinoma sarcomatoid carcinoma sarcomatoid renal cell carcinoma squamous cell carcinoma stomach cancer stomach carcinoma tongue squamous cell carcinoma tracheal disease tubular adenocarcinoma ulcerative colitis
4669	N-acetyl-alpha-glucosaminidase	NAGLU Aliases: NAG Sanfilippo disease IIIB	Homo sapiens (human)	Alzheimer's disease Burkitt lymphoma Charcot-Marie-Tooth disease axonal type 2V Clouston syndrome Dent disease Fanconi syndrome Glanzmann's thrombasthenia Kluver-Bucy syndrome Legg-Calve-Perthes disease Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease adenocarcinoma adenoma adrenal carcinoma adrenal cortex cancer adrenocortical carcinoma amnestic disorder amyloidosis appendicitis arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis atrophic gastritis autistic disorder cancer cardiovascular system disease cholera chronic kidney disease chronic pyelonephritis cone-rod dystrophy congestive heart failure coronary artery disease cribriform carcinoma cystinosis cystitis dementia dentatorubral-pallidoluysian atrophy diabetes mellitus diabetic ketoacidosis diarrhea embryoma epilepsy essential thrombocythemia focal segmental glomerulosclerosis follicular adenoma fundus albipunctatus glomerulonephritis granular cell carcinoma gray platelet syndrome heart disease hydronephrosis hypertrichosis hypertrophic cardiomyopathy 1 intellectual disability kidney disease kidney failure learning disability lipoid nephrosis liver cirrhosis lysosomal storage disease malignant pleural mesothelioma microcystic adenoma mucopolysaccharidosis I mucopolysaccharidosis II mucopolysaccharidosis III mucopolysaccharidosis IV mucopolysaccharidosis IVA mucopolysaccharidosis Ih mucopolysaccharidosis VI mucopolysaccharidosis type IIIA mucopolysaccharidosis type IIIB mucopolysaccharidosis type IIIC mucopolysaccharidosis type IIID mucopolysaccharidosis multiple epiphyseal dysplasia multiple myeloma myelodysplastic syndrome nephritis nephrosis neuroblastoma neurodegenerative disease oculocerebrorenal syndrome oculocutaneous albinism type IA osteochondrodysplasia otitis media panic disorder papillary adenoma parapsoriasis platelet-type bleeding disorder 17 platelet-type bleeding disorder 18 progressive familial intrahepatic cholestasis 1 progressive myoclonus epilepsy prostate cancer prostate carcinoma psoriasis pustulosis of palm and sole pyoureter qualitative platelet defect renal osteodystrophy retinitis pigmentosa retrograde amnesia sensorineural hearing loss spondyloepimetaphyseal dysplasia, Sponastrime type stomach cancer stomach carcinoma syndromic X-linked intellectual disability 94 trigonitis tubular adenocarcinoma type 2 diabetes mellitus viral infectious disease visual epilepsy
4668	alpha-N-acetylgalactosaminidase	NAGA Aliases: D22S674 alpha-galactosidase B	Homo sapiens (human)	Clouston syndrome Fabry disease Kanzaki disease Schindler disease type 1 Unverricht-Lundborg syndrome acquired hyperkeratosis alternating hemiplegia of childhood angiokeratoma autistic disorder autonomic neuropathy blepharospasm cancer cardiomyopathy cataract central nervous system disease central nervous system origin vertigo cerebral degeneration chylomicron retention disease congenital nystagmus dissociated nystagmus early myoclonic encephalopathy elephantiasis embryoma endomyocardial fibrosis epilepsy familial hypertrophic cardiomyopathy focal hand dystonia gallbladder disease hypertrophic cardiomyopathy hypertropia influenza intellectual disability learning disability lipid storage disease liver disease lymphedema mechanical strabismus nervous system disease neuroaxonal dystrophy neurodegeneration with brain iron accumulation 2a neuropathy ophthalmoplegia optic atrophy pathologic nystagmus peripheral nervous system disease sensorineural hearing loss spontaneous ocular nystagmus strabismus syndromic X-linked intellectual disability 94 trichomoniasis visual epilepsy
4595	mutY DNA glycosylase	MUTYH Aliases: MYH	Homo sapiens (human)	Bannayan-Riley-Ruvalcaba syndrome Cowden syndrome Hantavirus hemorrhagic fever with renal 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 Lynch syndrome Muir-Torre syndrome Peutz-Jeghers syndrome acoustic neuroma adenocarcinoma adenoma adrenal carcinoma adrenal cortex cancer adrenocortical carcinoma age related macular degeneration anal carcinoma in situ angiomatous meningioma arthritis arthropathy benign meningioma bile duct adenocarcinoma bile duct carcinoma bladder carcinoma bone marrow cancer breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma central nervous system cancer cerebral convexity meningioma cervical squamous cell carcinoma cervix uteri carcinoma in situ childhood acute lymphocytic leukemia cholangiocarcinoma chromosome 10q23 deletion syndrome clear cell meningioma colon adenocarcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma common wart cribriform carcinoma deafness-dystonia-optic neuronopathy syndrome degeneration of macula and posterior pole depressive disorder diabetes mellitus diabetic ketoacidosis distal arthrogryposis dysthymic disorder embryoma endometrial cancer endometrial carcinoma esophagus squamous cell carcinoma familial adenomatous polyposis 1 familial adenomatous polyposis 2 familial adenomatous polyposis female breast carcinoma fibrous meningioma follicular adenoma gastroenteritis gastrointestinal system cancer gastrointestinal system disease gliosarcoma granular cell carcinoma hair follicle neoplasm head and neck cancer head and neck squamous cell carcinoma hepatocellular carcinoma high grade glioma inflammatory bowel disease 1 inflammatory bowel disease intestinal disease intrahepatic cholangiocarcinoma intraorbital meningioma intraventricular meningioma islet cell tumor juvenile polyposis syndrome large intestine cancer liver cancer lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lymphoplasmacyte-rich meningioma macular degeneration major depressive disorder melancholic depression melanoma meningioma meningothelial meningioma microcystic adenoma microcystic meningioma mixed glioma myeloproliferative neoplasm nervous system cancer neurodegenerative disease neuroendocrine carcinoma neuroendocrine tumor neurotic disorder obsolete melancholia olfactory groove meningioma osteoarthritis ovarian cancer pancreatic cancer pancreatic carcinoma pancreatic ductal adenocarcinoma papillary adenoma parasagittal meningioma pilomatrixoma pituitary adenoma primary open angle glaucoma proctitis prostate cancer prostate carcinoma psammomatous meningioma rectal benign neoplasm rectum adenocarcinoma rectum cancer rheumatoid arthritis sarcomatoid carcinoma sebaceous adenocarcinoma secretory meningioma skin melanoma spinal meningioma stomach cancer stomach carcinoma in situ stomach carcinoma thyroid adenoma thyroid cancer thyroid gland carcinoma transitional meningioma transthyretin amyloidosis trichohepatoenteric syndrome 1 trichohepatoenteric syndrome tubular adenocarcinoma type 2 diabetes mellitus ulcerative colitis urinary bladder cancer uterine corpus cancer von Hippel-Lindau disease
4594	methylmalonyl-CoA mutase	MMUT Aliases: MCM	Homo sapiens (human)	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
4534	myotubularin 1	MTM1	Homo sapiens (human)	Bell's palsy Charcot-Marie-Tooth disease X-linked dominant 1 Charcot-Marie-Tooth disease X-linked dominant 6 Charcot-Marie-Tooth disease X-linked recessive 2 Charcot-Marie-Tooth disease X-linked recessive 3 Charcot-Marie-Tooth disease X-linked recessive 4 Charcot-Marie-Tooth disease X-linked recessive 5 Charcot-Marie-Tooth disease axonal type 2C Charcot-Marie-Tooth disease axonal type 2F Charcot-Marie-Tooth disease axonal type 2H Charcot-Marie-Tooth disease axonal type 2K Charcot-Marie-Tooth disease axonal type 2L Charcot-Marie-Tooth disease axonal type 2N Charcot-Marie-Tooth disease axonal type 2O Charcot-Marie-Tooth disease axonal type 2P Charcot-Marie-Tooth disease axonal type 2Q Charcot-Marie-Tooth disease axonal type 2T Charcot-Marie-Tooth disease axonal type 2U Charcot-Marie-Tooth disease dominant intermediate A Charcot-Marie-Tooth disease dominant intermediate B Charcot-Marie-Tooth disease dominant intermediate C Charcot-Marie-Tooth disease dominant intermediate D Charcot-Marie-Tooth disease dominant intermediate E Charcot-Marie-Tooth disease dominant intermediate F Charcot-Marie-Tooth disease recessive intermediate B Charcot-Marie-Tooth disease recessive intermediate C Charcot-Marie-Tooth disease recessive intermediate D Charcot-Marie-Tooth disease type 1A Charcot-Marie-Tooth disease type 1B Charcot-Marie-Tooth disease type 1C Charcot-Marie-Tooth disease type 1D Charcot-Marie-Tooth disease type 1E Charcot-Marie-Tooth disease type 1F Charcot-Marie-Tooth disease type 2 Charcot-Marie-Tooth disease type 2A1 Charcot-Marie-Tooth disease type 2A2A Charcot-Marie-Tooth disease type 2B1 Charcot-Marie-Tooth disease type 2B2 Charcot-Marie-Tooth disease type 2B Charcot-Marie-Tooth disease type 2D Charcot-Marie-Tooth disease type 2E Charcot-Marie-Tooth disease type 2I Charcot-Marie-Tooth disease type 2J Charcot-Marie-Tooth disease type 2R Charcot-Marie-Tooth disease type 2Y Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4A Charcot-Marie-Tooth disease type 4B1 Charcot-Marie-Tooth disease type 4B2 Charcot-Marie-Tooth disease type 4B3 Charcot-Marie-Tooth disease type 4C Charcot-Marie-Tooth disease type 4D Charcot-Marie-Tooth disease type 4E Charcot-Marie-Tooth disease type 4F Charcot-Marie-Tooth disease type 4G Charcot-Marie-Tooth disease type 4H Charcot-Marie-Tooth disease type 4J Charcot-Marie-Tooth disease type 4K Charcot-Marie-Tooth disease IgA glomerulonephritis Poland syndrome X-linked dilated cardiomyopathy abdominal obesity-metabolic syndrome 1 adult respiratory distress syndrome agenesis of the corpus callosum with peripheral neuropathy atrioventricular block autosomal dominant centronuclear myopathy autosomal recessive centronuclear myopathy breast cancer breast carcinoma cancer capillary hemangioma cavernous hemangioma centronuclear myopathy 1 centronuclear myopathy X-linked centronuclear myopathy chronic kidney disease colon cancer colon carcinoma colonic benign neoplasm colorectal cancer communicating hydrocephalus 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 congenital myopathy 4A congenital ptosis congenital structural myopathy cryptorchidism cystinuria dental caries dentin caries diabetes mellitus diabetic ketoacidosis diaphragmatic eventration diarrhea 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 embryoma endocarditis epilepsy facial nerve disease facial paralysis familial periodic paralysis galactosemia glucosephosphate dehydrogenase deficiency glycogen storage disease Ia glycogen storage disease hemangioma hereditary neuropathy with liability to pressure palsies hereditary sensory and autonomic neuropathy type 2 hydrocephalus infective endocarditis intrahepatic cholestasis large intestine cancer megaconial type congenital muscular dystrophy motor peripheral neuropathy muscular dystrophy-dystroglycanopathy type B1 muscular dystrophy-dystroglycanopathy type B5 muscular dystrophy-dystroglycanopathy type B6 myofibrillar myopathy 1 myopathy myotonic disease myotonic dystrophy type 1 myotonic dystrophy type 2 nemaline myopathy neurodegenerative disease neuromuscular disease neuropathy newborn respiratory distress syndrome obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum obstructive hydrocephalus oculocerebrorenal syndrome ophthalmoplegia peripheral nervous system disease placental insufficiency polyhydramnios polyneuropathy ptosis pyloric stenosis rabies rigid spine muscular dystrophy 1 scoliosis senile degeneration of brain subacute bacterial endocarditis tubular aggregate myopathy 1 type 2 diabetes mellitus visual epilepsy
4507	methylthioadenosine phosphorylase	MTAP Aliases: MSAP S-methyl-5'-thioadenosine phosphorylase c86fus	Homo sapiens (human)	B-cell lymphoma Barrett's esophagus Ehlers-Danlos syndrome Ewing sarcoma Langerhans-cell histiocytosis Q fever Sezary's disease T-cell acute lymphoblastic leukemia X-linked ichthyosis acute lymphoblastic leukemia acute myocardial infarction acute pancreatitis adenocarcinoma adenoma adult T-cell leukemia/lymphoma adult acute lymphocytic leukemia adult fibrosarcoma adult lymphoma arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis benign deep fibrous histiocytoma benign mesothelioma benign pleural mesothelioma biliary tract benign neoplasm biliary tract cancer bone cancer bone osteosarcoma breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma central nervous system cancer central nervous system lymphoma cerebral infarction cerebrovascular disease childhood T-cell acute lymphoblastic leukemia childhood acute lymphocytic leukemia childhood lymphoma childhood osteosarcoma chondrosarcoma chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma colon carcinoma colorectal cancer common bile duct neoplasm coronary artery disease coronary thrombosis cribriform carcinoma cutaneous fibrous histiocytoma diaphyseal medullary stenosis with malignant fibrous histiocytoma diffuse large B-cell lymphoma dysplastic nevus syndrome embryoma endometrial cancer endometrial carcinoma epithelioid sarcoma esophageal cancer esophageal carcinoma esophagus adenocarcinoma esophagus squamous cell carcinoma familial retinoblastoma fibrosarcoma follicular adenoma gallbladder disease gastric adenocarcinoma gastrointestinal stromal tumor giant cell glioblastoma glioblastoma gliosarcoma granular cell carcinoma hepatocellular carcinoma hidradenoma high grade glioma histiocytoma laryngeal carcinoma laryngeal squamous cell carcinoma larynx cancer liver cancer liver cirrhosis liver disease lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lymphoblastic lymphoma lymphoid leukemia lymphoma malignant mesothelioma malignant pleural mesothelioma mantle cell lymphoma melanoma microcystic adenoma mixed glioma mycosis fungoides myeloid leukemia myocardial infarction nasopharynx carcinoma neuroblastoma neuroendocrine carcinoma neuroendocrine tumor neurofibromatosis nodular malignant melanoma non-Hodgkin lymphoma nonpapillary renal cell carcinoma nutmeg liver obsolete T-cell lymphoblastic leukemia/lymphoma obsolete ymphosarcoma oropharynx cancer osteogenesis imperfecta osteosarcoma pancreatic adenocarcinoma pancreatic cancer pancreatic carcinoma pancreatitis papillary adenoma papillary renal cell carcinoma periampullary adenocarcinoma peripheral T-cell lymphoma pleurisy primary cutaneous T-cell non-Hodgkin lymphoma prostate cancer prostate carcinoma renal carcinoma renal cell carcinoma reticulohistiocytic granuloma reticulosarcoma retinoblastoma sarcoma sarcomatoid carcinoma sarcomatoid mesothelioma sarcomatoid renal cell carcinoma sclerosing hemangioma sensorineural hearing loss silent myocardial infarction skin benign neoplasm skin cancer skin melanoma skin papilloma skin tag sleeping sickness spindle cell sarcoma squamous cell carcinoma stomach cancer stomach carcinoma syringoma tongue squamous cell carcinoma trilateral retinoblastoma trypanosomiasis tubular adenocarcinoma typhus uterine corpus cancer vestibular schwannomatosis
4360	mannose receptor C-type 1	MRC1 Aliases: CD206 CLEC13D CLEC13DL bA541I19.1 macrophage mannose receptor	Homo sapiens (human)	Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease B-cell lymphoma Behcet's disease CD40 ligand deficiency CREST syndrome Clouston syndrome Down syndrome Duchenne muscular dystrophy EEC syndrome Evans' syndrome Ewing sarcoma Fanconi anemia complementation group A Fanconi anemia Guillain-Barre syndrome Hantavirus hemorrhagic fever with renal 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 Japanese encephalitis Leigh disease Lynch syndrome Marfan syndrome Marinesco-Sjogren syndrome Miller Fisher syndrome Muir-Torre syndrome Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Pick's disease Reye syndrome Richter's syndrome Sjogren-Larsson syndrome Sveinsson chorioretinal atrophy T-cell acute lymphoblastic leukemia X-linked hyper IgM syndrome X-linked ichthyosis abdominal obesity-metabolic syndrome 1 acquired hyperkeratosis acquired immunodeficiency syndrome acrodermatitis actinic keratosis adenocarcinoma adenoma adenosarcoma adult T-cell leukemia/lymphoma adult lymphoma alcoholic hepatitis allergic asthma allergic contact dermatitis amyotrophic lateral sclerosis anaplastic astrocytoma arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy aseptic meningitis aspergillosis asthma atherosclerosis autism spectrum disorder autistic disorder autoimmune disease autoimmune lymphoproliferative syndrome type 2A autoimmune lymphoproliferative syndrome type 2B autoimmune lymphoproliferative syndrome type 3 autoimmune lymphoproliferative syndrome autoimmune thrombocytopenic purpura autosomal dominant pseudohypoaldosteronism type 1 autosomal recessive pseudohypoaldosteronism type 1 bacterial sepsis basal cell carcinoma benign giant cell tumor benign mesothelioma bile duct adenocarcinoma bile duct carcinoma bipolar disorder black piedra bladder carcinoma bladder urothelial carcinoma brain cancer breast cancer breast carcinoma bronchus cancer bronchus carcinoma bulbar polio bullous pemphigoid cancer carcinoma cardiovascular system disease central nervous system cancer central nervous system lymphoma cerebral degeneration cerebral infarction cerebral palsy cerebral primitive neuroectodermal tumor cerebrovascular disease cervical adenocarcinoma cervical cancer cervix carcinoma childhood cerebral astrocytoma childhood leukemia childhood lymphoma childhood testicular germ cell tumor childhood type dermatomyositis cholangiocarcinoma cholesteatoma choriocarcinoma chromophobe renal cell carcinoma chronic interstitial cystitis chronic lymphocytic leukemia chronic myeloid leukemia chronic obstructive pulmonary disease clear cell renal cell carcinoma clear cell sarcoma cleft palate coccidioidomycosis colitis collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma common variable immunodeficiency common wart complement deficiency congestive heart failure coronary artery disease craniosynostosis crescentic glomerulonephritis cribriform carcinoma cutaneous Paget's disease deafness-dystonia-optic neuronopathy syndrome dengue disease dermatitis dermatomyositis diabetes mellitus dilated cardiomyopathy 1A dilated cardiomyopathy disease of metabolism distal arthrogryposis duodenum cancer dysplastic nevus syndrome ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 embryoma encephalitis encephalomyelitis endometrial adenocarcinoma endometrial cancer endometrial carcinoma endometrial hyperplasia endometrioid ovary carcinoma endometriosis of uterus endometriosis epilepsy epithelioid leiomyosarcoma epithelioid sarcoma esophageal cancer esophageal carcinoma esophagus squamous cell carcinoma exanthema subitum factor VIII deficiency fallopian tube cancer fallopian tube carcinoma familial adenomatous polyposis 1 familial adenomatous polyposis female reproductive organ cancer fibrillary astrocytoma follicular adenoma gastroenteritis gastroparesis gemistocytic astrocytoma gestational trophoblastic neoplasm giant cell glioblastoma glioblastoma gliosarcoma granular cell carcinoma head and neck cancer head and neck squamous cell carcinoma heart cancer heart disease hematologic cancer hemiplegia hepatitis A hepatitis B hepatitis C hepatocellular carcinoma hereditary breast ovarian cancer syndrome herpes simplex high grade glioma histoplasmosis human immunodeficiency virus infectious disease hyper IgM syndrome idiopathic interstitial pneumonia idiopathic pulmonary fibrosis ileitis ileocolitis immune system disease immunodeficiency with hyper IgM type 3 in situ carcinoma inflammatory bowel disease influenza inherited metabolic disorder insulinoma interstitial cystitis interstitial lung disease intrahepatic cholangiocarcinoma intrinsic asthma islet cell tumor isolated cleft palate juvenile pilocytic astrocytoma keratoacanthoma kidney cancer large intestine cancer laryngeal disease leiomyosarcoma leishmaniasis leprosy leukemia liver cancer liver carcinoma lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lung oat cell carcinoma lung small cell carcinoma lupus erythematosus lymphoma lymphoproliferative syndrome 1 lymphoproliferative syndrome 2 malignant astrocytoma malignant mesothelioma malignant teratoma mantle cell lymphoma mature teratoma measles medulloblastoma medulloepithelioma melanoma microcystic adenoma microphthalmia mixed glioma morbid obesity mucinous adenocarcinoma multiple myeloma mumps muscular dystrophy myelitis myositis myotonic disease myotonic dystrophy type 1 myotonic dystrophy type 2 myxoid leiomyosarcoma nasopharynx carcinoma nephroblastoma neuroblastoma neurodegenerative disease neuroectodermal tumor neurofibromatosis 1 neurofibromatosis nodular prostate nonpapillary renal cell carcinoma obesity obsolete Matthew-Wood syndrome obsolete T-cell lymphoblastic leukemia/lymphoma obsolete congenital ichthyosiform erythroderma obsolete embryonal Tumor with Multilayered Rosettes, C19MC-Altered obsolete ymphosarcoma osteoarthritis ovarian cancer ovarian carcinoma pancreatic adenocarcinoma pancreatic cancer pancreatic carcinoma pancreatic ductal adenocarcinoma papillary adenocarcinoma papillary adenoma papillary renal cell carcinoma parapsoriasis pemphigus vulgaris pemphigus penis carcinoma in situ penis carcinoma periampullary adenocarcinoma pilocytic astrocytoma placenta cancer pneumocystosis pneumonia poliomyelitis polyp of middle ear postinflammatory pulmonary fibrosis primary cerebellar degeneration primary pulmonary hypertension progressive muscular atrophy prostate cancer prostate carcinoma prostatic adenoma protoplasmic astrocytoma prune belly syndrome pseudohypoaldosteronism psoriasis pulmonary fibrosis pulmonary tuberculosis pustulosis of palm and sole rapidly progressive glomerulonephritis rectal benign neoplasm rectum adenocarcinoma rectum cancer renal carcinoma renal cell carcinoma rheumatoid arthritis rubella sarcoidosis sarcoma sarcomatoid carcinoma sarcomatoid renal cell carcinoma sebaceous gland neoplasm seminoma situs inversus skin benign neoplasm skin cancer skin carcinoma skin melanoma small intestine adenocarcinoma small intestine cancer small intestine carcinoma spastic diplegia spastic monoplegia spastic quadriplegic cerebral palsy spindle cell sarcoma sporadic breast cancer sporotrichosis squamous cell carcinoma steatotic liver disease stomach cancer stomach carcinoma subependymal giant cell astrocytoma superficial mycosis supratentorial primitive neuroectodermal tumor syndromic X-linked intellectual disability 94 systemic Epstein-Barr virus positive T-cell lymphoma of childhood systemic lupus erythematosus systemic scleroderma tarsal-carpal coalition syndrome teratoma testicular cancer testicular germ cell cancer testis seminoma thrombocytopenia due to platelet alloimmunization thrombocytopenia thymus lymphoma thyroid adenoma thyroid cancer thyroid gland carcinoma thyroid gland medullary carcinoma thyroid gland papillary carcinoma tongue squamous cell carcinoma tracheal disease transitional cell carcinoma transthyretin amyloidosis trichohepatoenteric syndrome 1 trichohepatoenteric syndrome tuberculosis tuberculous pneumothorax tuberous sclerosis tubular adenocarcinoma type 2 diabetes mellitus urinary bladder cancer uterine corpus cancer uveoparotid fever viral infectious disease viral meningitis visceral leishmaniasis visual epilepsy white piedra yellow fever
4351	mannose phosphate isomerase	MPI Aliases: mannose-6-phosphate isomerase	Homo sapiens (human)	Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease Pick's disease Reye syndrome Zollinger-Ellison syndrome acute myeloid leukemia acute myocardial infarction antithrombin III deficiency anxiety disorder arteriosclerotic cardiovascular disease atherosclerosis autosomal dominant cerebellar ataxia autosomal recessive hypercholesterolemia autosomal recessive polycystic kidney disease blindness blood coagulation disease campomelic dysplasia cancer carbohydrate metabolic disorder cardiovascular system disease celiac disease central nervous system cancer cerebral degeneration chronic kidney disease congenital disorder of glycosylation Ia congenital disorder of glycosylation Ib congenital disorder of glycosylation Iq congenital disorder of glycosylation type I congenital disorder of glycosylation congestive heart failure coronary artery disease coronary thrombosis craniometaphyseal dysplasia cryptococcosis cystic fibrosis developmental and epileptic encephalopathy 36 diabetes mellitus diabetic ketoacidosis diarrhea dilated cardiomyopathy 1A dilated cardiomyopathy dry eye syndrome egg allergy elephantiasis embryoma epilepsy essential hypertension familial hyperinsulinemic hypoglycemia 1 familial hyperinsulinemic hypoglycemia 2 gallbladder disease generalized anxiety disorder gliosarcoma heart disease hepatitis B high grade glioma hyperinsulinemic hypoglycemia hyperinsulinism hypertension hypoglycemia laryngeal disease liver cirrhosis liver disease lymphedema marasmus mixed glioma myocardial infarction neurotic disorder nutmeg liver obsolete inherited blood coagulation disease phobic disorder placental insufficiency polycystic kidney disease 4 post-traumatic stress disorder postpartum depression protein C deficiency protein S deficiency protein-losing enteropathy schizophrenia silent myocardial infarction spinocerebellar ataxia type 6 steatotic liver disease thrombocytopenia thrombophilia tracheal disease tropical sprue type 2 diabetes mellitus visual epilepsy xerophthalmia
4350	N-methylpurine DNA glycosylase	MPG Aliases: MDG alkyladenine DNA glycosylase	Homo sapiens (human)	Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease Barrett's esophagus Bloch-Sulzberger syndrome IgA glomerulonephritis Pick's disease Reye syndrome adenocarcinoma adenoma anal carcinoma in situ anemia aortic valve disease 2 aortic valve stenosis breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma central nervous system cancer cerebral degeneration cervical adenocarcinoma cervical cancer cervix carcinoma cervix uteri carcinoma in situ chikungunya colorectal cancer colorectal carcinoma common wart dengue hemorrhagic fever depressive disorder diabetes mellitus diabetic ketoacidosis dysthymic disorder embryoma eosinophilic esophagitis esophagus adenocarcinoma familial retinoblastoma follicular adenoma gallbladder cancer gallbladder carcinoma giant cell glioblastoma glioblastoma gliosarcoma hepatitis C hepatocellular carcinoma high grade glioma hyperglycemia hypomelanosis of Ito idiopathic interstitial pneumonia idiopathic pulmonary fibrosis inflammatory bowel disease 1 inflammatory bowel disease large intestine cancer leishmaniasis liver cancer lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma macrocytic anemia major depressive disorder male infertility melancholic depression melanoma microcystic adenoma mixed glioma multiple myeloma neurotic disorder obsolete melancholia papillary adenoma polycystic ovary syndrome postinflammatory pulmonary fibrosis pulmonary fibrosis retinoblastoma rheumatoid arthritis sarcomatoid carcinoma skin melanoma trilateral retinoblastoma tuberculosis type 2 diabetes mellitus ulcerative colitis visceral leishmaniasis xeroderma pigmentosum group C
4329	aldehyde dehydrogenase 6 family member A1	ALDH6A1 Aliases: malonate-semialdehyde dehydrogenase (acetylating)	Homo sapiens (human)	amino acid metabolic disorder cataract chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma coronary artery disease diabetes mellitus dystonia epilepsy lactic acidosis methylmalonic acidemia microcephaly microphthalmia nonpapillary renal cell carcinoma obesity papillary renal cell carcinoma renal carcinoma renal cell carcinoma sarcomatoid renal cell carcinoma type 2 diabetes mellitus
4326	matrix metallopeptidase 17	MMP17 Aliases: MT4-MMP	Homo sapiens (human)	adenocarcinoma adenoma aortic aneurysm arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy atherosclerosis breast adenocarcinoma breast cancer breast carcinoma cancer coronary artery disease cribriform carcinoma embryoma granular cell carcinoma head and neck cancer head and neck squamous cell carcinoma migraine osteoporosis rheumatoid arthritis tubular adenocarcinoma
4249	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase	MGAT5 Aliases: GNT-V MGAT5A alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A	Homo sapiens (human)	Henoch-Schoenlein purpura Richter's syndrome Zollinger-Ellison syndrome adenocarcinoma adenoma bile duct adenocarcinoma bile duct cancer bile duct carcinoma breast cancer breast carcinoma cancer carcinoma central nervous system cancer cholangiocarcinoma chromophobe renal cell carcinoma chronic lymphocytic leukemia clear cell renal cell carcinoma collecting duct carcinoma colon cancer colonic benign neoplasm depressive disorder diabetic ketoacidosis embryoma follicular adenoma gastric adenocarcinoma giant cell glioblastoma glioblastoma gliosarcoma hepatocellular carcinoma high grade glioma hyperinsulinism hypersensitivity vasculitis inflammatory bowel disease 1 inflammatory bowel disease invasive ductal carcinoma liver cancer lung benign neoplasm melanoma microcystic adenoma mixed glioma multiple sclerosis neuroblastoma nonpapillary renal cell carcinoma obsolete type 1 diabetes mellitus 9 papillary adenoma papillary renal cell carcinoma parapsoriasis prostate cancer prostate carcinoma proteinuria psoriasis pustulosis of palm and sole renal carcinoma renal cell carcinoma rheumatoid arthritis sarcomatoid carcinoma sarcomatoid renal cell carcinoma skin melanoma stomach cancer stomach carcinoma systemic lupus erythematosus 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
4248	beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase	MGAT3 Aliases: GNT-III	Homo sapiens (human)	Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease Pick's disease Reye syndrome brachydactyly type C brachydactyly breast cancer cancer cerebral degeneration chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma embryoma hepatitis B hepatocellular carcinoma inflammatory bowel disease liver cancer ovarian cancer ovarian carcinoma papillary renal cell carcinoma renal cell carcinoma sarcomatoid renal cell carcinoma
4247	alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase	MGAT2 Aliases: GNT-II	Homo sapiens (human)	Laron syndrome achondroplasia antithrombin III deficiency autosomal recessive chronic granulomatous disease 3 cancer chronic granulomatous disease clubfoot congenital disorder of glycosylation type II congenital disorder of glycosylation type IIa congenital disorder of glycosylation congenital dyserythropoietic anemia type II congenital dyserythropoietic anemia craniosynostosis diabetes mellitus diabetic ketoacidosis disease of metabolism epilepsy factor XII deficiency gestational diabetes gingival hypertrophy gingival overgrowth microcephaly neuroblastoma obesity protein C deficiency protein S deficiency sensorineural hearing loss stereotypic movement disorder syndromic X-linked intellectual disability 94 thrombophilia type 2 diabetes mellitus ventricular septal defect visual epilepsy
4245	alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase	MGAT1 Aliases: GLCNAC-TI GNT-1 GnTI	Homo sapiens (human)	Balo concentric sclerosis adrenoleukodystrophy breast cancer breast carcinoma cancer cardiomyopathy cardiovascular system disease central nervous system cancer central nervous system disease complex partial epilepsy congestive heart failure cystinuria diabetic ketoacidosis dilated cardiomyopathy 1A dilated cardiomyopathy disease of mental health disease of metabolism embryoma endomyocardial fibrosis epilepsy galactokinase deficiency galactosemia gestational diabetes giant cell glioblastoma glioblastoma gliosarcoma glucosephosphate dehydrogenase deficiency glycine encephalopathy glycogen storage disease Ia glycogen storage disease heart disease hepatocellular carcinoma high grade glioma hypertrophic cardiomyopathy inflammatory bowel disease liver cancer mixed glioma multiple sclerosis narcolepsy nervous system disease obesity obsolete type 1 diabetes mellitus 9 prostate cancer prostate carcinoma psychotic disorder schizoaffective disorder schizophrenia schizophreniform disorder temporal lobe epilepsy 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 visual epilepsy
4242	MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	MFNG	Homo sapiens (human)
4241	melanotransferrin	MELTF Aliases: CD228 FLJ38863 MAP97 MGC4856 MTF1 MTf melanotransferrin membrane-bound transferrin-like protein	Homo sapiens (human)	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 MHC class II deficiency Pick's disease Reye syndrome Roberts syndrome Zollinger-Ellison syndrome adenosine deaminase deficiency angiomyolipoma astigmatism bone osteosarcoma cancer carcinoma central nervous system cancer cerebral degeneration cerebral primitive neuroectodermal tumor cervical cancer cervix carcinoma childhood osteosarcoma colorectal cancer colorectal carcinoma dysplastic nevus syndrome embryoma gliosarcoma high grade glioma hyperinsulinism large intestine cancer lung adenocarcinoma lung cancer medulloblastoma medulloepithelioma melanoma melanotic neuroectodermal tumor mixed glioma neuroectodermal tumor obsolete SC phocomelia syndrome obsolete embryonal Tumor with Multilayered Rosettes, C19MC-Altered osteosarcoma polycystic ovary syndrome sarcomatoid carcinoma severe combined immunodeficiency skin melanoma stomach cancer stomach carcinoma supratentorial primitive neuroectodermal tumor
4200	malic enzyme 2	ME2 Aliases: NAD-dependent malic enzyme, mitochondrial malate dehydrogenase (oxaloacetate-decarboxylating)	Homo sapiens (human)	bipolar disorder cancer embryoma epilepsy generalized epilepsy with febrile seizures plus giant cell glioblastoma glioblastoma high grade glioma idiopathic generalized epilepsy leukemia lung benign neoplasm lung cancer lung non-small cell carcinoma microphthalmia obsolete Matthew-Wood syndrome pancreatic cancer pancreatic carcinoma psychotic disorder schizoaffective disorder schizophrenia schizophreniform disorder

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