GlyCosmos Portal

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UniProt ID	Protein Name	Gene Symbol	Organism	No. of Glycosylation Sites	No. of GlyTouCan IDs	Disease Ontology ▲
Q8TAT5	Endonuclease 8-like 3	NEIL3	Homo sapiens (human)	3	1	Fanconi anemia acute myocardial infarction basal cell carcinoma cancer coronary thrombosis differentiated thyroid gland carcinoma embryoma giant cell glioblastoma glioblastoma glomerulonephritis hepatocellular carcinoma kidney disease liver cancer myocardial infarction nephritis silent myocardial infarction
O95498	Pantetheine hydrolase VNN2	VNN2	Homo sapiens (human)	7	2	Fanconi syndrome atopic dermatitis bone osteosarcoma cancer cystinosis disease of metabolism embryoma giant cell glioblastoma glioblastoma high grade glioma malaria osteosarcoma parapsoriasis psoriasis pustulosis of palm and sole spondyloepimetaphyseal dysplasia, Sponastrime type
P07602	Prosaposin	PSAP GLBA SAP1	Homo sapiens (human)	22	299	Farber lipogranulomatosis Gaucher's disease type I Gaucher's disease Grn-related frontotemporal lobar degeneration with Tdp43 inclusions Krabbe disease Marfan syndrome Niemann-Pick disease Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Unverricht-Lundborg syndrome X-linked nonsyndromic deafness acquired immunodeficiency syndrome adult fibrosarcoma agnosia allergic asthma amnestic disorder amyotrophic lateral sclerosis anemia aortic valve disease 2 aortic valve stenosis asthma atypical Gaucher's disease due to saposin c deficiency autosomal dominant auditory neuropathy 1 autosomal dominant nonsyndromic deafness 10 autosomal dominant nonsyndromic deafness 11 autosomal dominant nonsyndromic deafness 12 autosomal dominant nonsyndromic deafness 13 autosomal dominant nonsyndromic deafness 15 autosomal dominant nonsyndromic deafness 16 autosomal dominant nonsyndromic deafness 17 autosomal dominant nonsyndromic deafness 18 autosomal dominant nonsyndromic deafness 1 autosomal dominant nonsyndromic deafness 20 autosomal dominant nonsyndromic deafness 21 autosomal dominant nonsyndromic deafness 22 autosomal dominant nonsyndromic deafness 23 autosomal dominant nonsyndromic deafness 24 autosomal dominant nonsyndromic deafness 25 autosomal dominant nonsyndromic deafness 27 autosomal dominant nonsyndromic deafness 28 autosomal dominant nonsyndromic deafness 2A autosomal dominant nonsyndromic deafness 2B autosomal dominant nonsyndromic deafness 30 autosomal dominant nonsyndromic deafness 31 autosomal dominant nonsyndromic deafness 33 autosomal dominant nonsyndromic deafness 36 autosomal dominant nonsyndromic deafness 3A autosomal dominant nonsyndromic deafness 3B autosomal dominant nonsyndromic deafness 40 autosomal dominant nonsyndromic deafness 41 autosomal dominant nonsyndromic deafness 43 autosomal dominant nonsyndromic deafness 44 autosomal dominant nonsyndromic deafness 47 autosomal dominant nonsyndromic deafness 48 autosomal dominant nonsyndromic deafness 49 autosomal dominant nonsyndromic deafness 4A autosomal dominant nonsyndromic deafness 4B autosomal dominant nonsyndromic deafness 50 autosomal dominant nonsyndromic deafness 51 autosomal dominant nonsyndromic deafness 52 autosomal dominant nonsyndromic deafness 53 autosomal dominant nonsyndromic deafness 54 autosomal dominant nonsyndromic deafness 56 autosomal dominant nonsyndromic deafness 58 autosomal dominant nonsyndromic deafness 59 autosomal dominant nonsyndromic deafness 5 autosomal dominant nonsyndromic deafness 64 autosomal dominant nonsyndromic deafness 65 autosomal dominant nonsyndromic deafness 66 autosomal dominant nonsyndromic deafness 67 autosomal dominant nonsyndromic deafness 68 autosomal dominant nonsyndromic deafness 69 autosomal dominant nonsyndromic deafness 6 autosomal dominant nonsyndromic deafness 70 autosomal dominant nonsyndromic deafness 7 autosomal dominant nonsyndromic deafness 9 autosomal dominant nonsyndromic deafness autosomal recessive nonsyndromic deafness 101 autosomal recessive nonsyndromic deafness 102 autosomal recessive nonsyndromic deafness 103 autosomal recessive nonsyndromic deafness 104 autosomal recessive nonsyndromic deafness 12 autosomal recessive nonsyndromic deafness 13 autosomal recessive nonsyndromic deafness 14 autosomal recessive nonsyndromic deafness 15 autosomal recessive nonsyndromic deafness 16 autosomal recessive nonsyndromic deafness 17 autosomal recessive nonsyndromic deafness 18A autosomal recessive nonsyndromic deafness 18B autosomal recessive nonsyndromic deafness 1A autosomal recessive nonsyndromic deafness 1B autosomal recessive nonsyndromic deafness 20 autosomal recessive nonsyndromic deafness 21 autosomal recessive nonsyndromic deafness 22 autosomal recessive nonsyndromic deafness 23 autosomal recessive nonsyndromic deafness 24 autosomal recessive nonsyndromic deafness 25 autosomal recessive nonsyndromic deafness 26 autosomal recessive nonsyndromic deafness 27 autosomal recessive nonsyndromic deafness 28 autosomal recessive nonsyndromic deafness 29 autosomal recessive nonsyndromic deafness 2 autosomal recessive nonsyndromic deafness 30 autosomal recessive nonsyndromic deafness 31 autosomal recessive nonsyndromic deafness 32 autosomal recessive nonsyndromic deafness 33 autosomal recessive nonsyndromic deafness 35 autosomal recessive nonsyndromic deafness 36 autosomal recessive nonsyndromic deafness 37 autosomal recessive nonsyndromic deafness 38 autosomal recessive nonsyndromic deafness 39 autosomal recessive nonsyndromic deafness 3 autosomal recessive nonsyndromic deafness 40 autosomal recessive nonsyndromic deafness 42 autosomal recessive nonsyndromic deafness 44 autosomal recessive nonsyndromic deafness 45 autosomal recessive nonsyndromic deafness 46 autosomal recessive nonsyndromic deafness 47 autosomal recessive nonsyndromic deafness 48 autosomal recessive nonsyndromic deafness 49 autosomal recessive nonsyndromic deafness 4 autosomal recessive nonsyndromic deafness 51 autosomal recessive nonsyndromic deafness 53 autosomal recessive nonsyndromic deafness 55 autosomal recessive nonsyndromic deafness 59 autosomal recessive nonsyndromic deafness 5 autosomal recessive nonsyndromic deafness 61 autosomal recessive nonsyndromic deafness 62 autosomal recessive nonsyndromic deafness 63 autosomal recessive nonsyndromic deafness 65 autosomal recessive nonsyndromic deafness 66 autosomal recessive nonsyndromic deafness 67 autosomal recessive nonsyndromic deafness 68 autosomal recessive nonsyndromic deafness 6 autosomal recessive nonsyndromic deafness 70 autosomal recessive nonsyndromic deafness 71 autosomal recessive nonsyndromic deafness 74 autosomal recessive nonsyndromic deafness 76 autosomal recessive nonsyndromic deafness 77 autosomal recessive nonsyndromic deafness 79 autosomal recessive nonsyndromic deafness 7 autosomal recessive nonsyndromic deafness 83 autosomal recessive nonsyndromic deafness 84A autosomal recessive nonsyndromic deafness 84B autosomal recessive nonsyndromic deafness 85 autosomal recessive nonsyndromic deafness 86 autosomal recessive nonsyndromic deafness 88 autosomal recessive nonsyndromic deafness 89 autosomal recessive nonsyndromic deafness 8 autosomal recessive nonsyndromic deafness 91 autosomal recessive nonsyndromic deafness 93 autosomal recessive nonsyndromic deafness 96 autosomal recessive nonsyndromic deafness 97 autosomal recessive nonsyndromic deafness 98 autosomal recessive nonsyndromic deafness 9 autosomal recessive nonsyndromic deafness bacterial sepsis blepharospasm breast cancer breast carcinoma cancer candidiasis central nervous system cancer central sleep apnea cholecystitis choreatic disease colitis combined saposin deficiency critical illness polyneuropathy cutaneous candidiasis dementia dental caries dentin caries denture stomatitis depressive disorder dysthymic disorder dystonia early myoclonic encephalopathy embryoma epilepsy fascioliasis fibrosarcoma focal hand dystonia frontotemporal dementia gallbladder cancer gallbladder carcinoma gastroenteritis giant cell glioblastoma glioblastoma gliosarcoma hepatitis B hepatitis E hepatocellular carcinoma high grade glioma human immunodeficiency virus infectious disease ileitis ileocolitis inflammatory and toxic neuropathy inflammatory bowel disease leukodystrophy lingual-facial-buccal dyskinesia liver cancer lysosomal storage disease macrocytic anemia major depressive disorder malaria melancholic depression meningoencephalitis metachromatic leukodystrophy mixed glioma movement disease multiple myeloma neuronal ceroid lipofuscinosis 10 neuronal ceroid lipofuscinosis 11 neuronal ceroid lipofuscinosis 13 neuronal ceroid lipofuscinosis 1 neuronal ceroid lipofuscinosis 2 neuronal ceroid lipofuscinosis 3 neuronal ceroid lipofuscinosis 4 neuronal ceroid lipofuscinosis 5 neuronal ceroid lipofuscinosis 6A neuronal ceroid lipofuscinosis 6B neuronal ceroid lipofuscinosis 7 neuronal ceroid lipofuscinosis 8 northern epilepsy variant neuronal ceroid lipofuscinosis 8 neuronal ceroid lipofuscinosis 9 neuronal ceroid lipofuscinosis neuropathy neurotic disorder obsolete autosomal recessive nonsyndromic deafness 105 obsolete melancholia optic atrophy oral candidiasis ovarian cancer ovarian carcinoma panic disorder paraplegia parapsoriasis peripheral nervous system disease phobic disorder plasma cell neoplasm polyneuropathy progressive multifocal leukoencephalopathy progressive muscular atrophy prostate cancer prostate carcinoma psoriasis pustulosis of palm and sole retrograde amnesia schizophrenia situs inversus social phobia sphingolipidosis stomach cancer stomach carcinoma stomatitis syndromic X-linked intellectual disability type 10 thrombocytopenia tuberous sclerosis ulcerative stomatitis visual epilepsy vulvovaginal candidiasis vulvovaginitis
Q6YHK3	CD109 antigen	CD109 CPAMD7	Homo sapiens (human)	19	107	Fukuyama congenital muscular dystrophy Marfan syndrome X-linked nonsyndromic deafness acrodermatitis adenocarcinoma adenoma adult epithelioid sarcoma amyloidosis autosomal dominant auditory neuropathy 1 autosomal dominant nonsyndromic deafness 10 autosomal dominant nonsyndromic deafness 11 autosomal dominant nonsyndromic deafness 12 autosomal dominant nonsyndromic deafness 13 autosomal dominant nonsyndromic deafness 15 autosomal dominant nonsyndromic deafness 16 autosomal dominant nonsyndromic deafness 17 autosomal dominant nonsyndromic deafness 18 autosomal dominant nonsyndromic deafness 1 autosomal dominant nonsyndromic deafness 20 autosomal dominant nonsyndromic deafness 21 autosomal dominant nonsyndromic deafness 22 autosomal dominant nonsyndromic deafness 23 autosomal dominant nonsyndromic deafness 24 autosomal dominant nonsyndromic deafness 25 autosomal dominant nonsyndromic deafness 27 autosomal dominant nonsyndromic deafness 28 autosomal dominant nonsyndromic deafness 2A autosomal dominant nonsyndromic deafness 2B autosomal dominant nonsyndromic deafness 30 autosomal dominant nonsyndromic deafness 31 autosomal dominant nonsyndromic deafness 33 autosomal dominant nonsyndromic deafness 36 autosomal dominant nonsyndromic deafness 3A autosomal dominant nonsyndromic deafness 3B autosomal dominant nonsyndromic deafness 40 autosomal dominant nonsyndromic deafness 41 autosomal dominant nonsyndromic deafness 43 autosomal dominant nonsyndromic deafness 44 autosomal dominant nonsyndromic deafness 47 autosomal dominant nonsyndromic deafness 48 autosomal dominant nonsyndromic deafness 49 autosomal dominant nonsyndromic deafness 4A autosomal dominant nonsyndromic deafness 4B autosomal dominant nonsyndromic deafness 50 autosomal dominant nonsyndromic deafness 51 autosomal dominant nonsyndromic deafness 52 autosomal dominant nonsyndromic deafness 53 autosomal dominant nonsyndromic deafness 54 autosomal dominant nonsyndromic deafness 56 autosomal dominant nonsyndromic deafness 58 autosomal dominant nonsyndromic deafness 59 autosomal dominant nonsyndromic deafness 5 autosomal dominant nonsyndromic deafness 64 autosomal dominant nonsyndromic deafness 65 autosomal dominant nonsyndromic deafness 66 autosomal dominant nonsyndromic deafness 67 autosomal dominant nonsyndromic deafness 68 autosomal dominant nonsyndromic deafness 69 autosomal dominant nonsyndromic deafness 6 autosomal dominant nonsyndromic deafness 70 autosomal dominant nonsyndromic deafness 7 autosomal dominant nonsyndromic deafness 9 autosomal dominant nonsyndromic deafness autosomal recessive nonsyndromic deafness 101 autosomal recessive nonsyndromic deafness 102 autosomal recessive nonsyndromic deafness 103 autosomal recessive nonsyndromic deafness 104 autosomal recessive nonsyndromic deafness 12 autosomal recessive nonsyndromic deafness 13 autosomal recessive nonsyndromic deafness 14 autosomal recessive nonsyndromic deafness 15 autosomal recessive nonsyndromic deafness 16 autosomal recessive nonsyndromic deafness 17 autosomal recessive nonsyndromic deafness 18A autosomal recessive nonsyndromic deafness 18B autosomal recessive nonsyndromic deafness 1A autosomal recessive nonsyndromic deafness 1B autosomal recessive nonsyndromic deafness 20 autosomal recessive nonsyndromic deafness 21 autosomal recessive nonsyndromic deafness 22 autosomal recessive nonsyndromic deafness 23 autosomal recessive nonsyndromic deafness 24 autosomal recessive nonsyndromic deafness 25 autosomal recessive nonsyndromic deafness 26 autosomal recessive nonsyndromic deafness 27 autosomal recessive nonsyndromic deafness 28 autosomal recessive nonsyndromic deafness 29 autosomal recessive nonsyndromic deafness 2 autosomal recessive nonsyndromic deafness 30 autosomal recessive nonsyndromic deafness 31 autosomal recessive nonsyndromic deafness 32 autosomal recessive nonsyndromic deafness 33 autosomal recessive nonsyndromic deafness 35 autosomal recessive nonsyndromic deafness 36 autosomal recessive nonsyndromic deafness 37 autosomal recessive nonsyndromic deafness 38 autosomal recessive nonsyndromic deafness 39 autosomal recessive nonsyndromic deafness 3 autosomal recessive nonsyndromic deafness 40 autosomal recessive nonsyndromic deafness 42 autosomal recessive nonsyndromic deafness 44 autosomal recessive nonsyndromic deafness 45 autosomal recessive nonsyndromic deafness 46 autosomal recessive nonsyndromic deafness 47 autosomal recessive nonsyndromic deafness 48 autosomal recessive nonsyndromic deafness 49 autosomal recessive nonsyndromic deafness 4 autosomal recessive nonsyndromic deafness 51 autosomal recessive nonsyndromic deafness 53 autosomal recessive nonsyndromic deafness 55 autosomal recessive nonsyndromic deafness 59 autosomal recessive nonsyndromic deafness 5 autosomal recessive nonsyndromic deafness 61 autosomal recessive nonsyndromic deafness 62 autosomal recessive nonsyndromic deafness 63 autosomal recessive nonsyndromic deafness 65 autosomal recessive nonsyndromic deafness 66 autosomal recessive nonsyndromic deafness 67 autosomal recessive nonsyndromic deafness 68 autosomal recessive nonsyndromic deafness 6 autosomal recessive nonsyndromic deafness 70 autosomal recessive nonsyndromic deafness 71 autosomal recessive nonsyndromic deafness 74 autosomal recessive nonsyndromic deafness 76 autosomal recessive nonsyndromic deafness 77 autosomal recessive nonsyndromic deafness 79 autosomal recessive nonsyndromic deafness 7 autosomal recessive nonsyndromic deafness 83 autosomal recessive nonsyndromic deafness 84A autosomal recessive nonsyndromic deafness 84B autosomal recessive nonsyndromic deafness 85 autosomal recessive nonsyndromic deafness 86 autosomal recessive nonsyndromic deafness 88 autosomal recessive nonsyndromic deafness 89 autosomal recessive nonsyndromic deafness 8 autosomal recessive nonsyndromic deafness 91 autosomal recessive nonsyndromic deafness 93 autosomal recessive nonsyndromic deafness 96 autosomal recessive nonsyndromic deafness 97 autosomal recessive nonsyndromic deafness 98 autosomal recessive nonsyndromic deafness 9 autosomal recessive nonsyndromic deafness blindness bone osteosarcoma breast cancer breast carcinoma breast ductal carcinoma bronchus cancer bronchus carcinoma cancer carcinoma central nervous system cancer cerebral palsy cervical squamous cell carcinoma childhood epithelioid sarcoma childhood osteosarcoma colon cancer colonic benign neoplasm colorectal cancer colorectal carcinoma cribriform carcinoma dermatitis diffuse large B-cell lymphoma embryoma endometrial adenocarcinoma epithelioid sarcoma familial periodic paralysis gallbladder squamous cell carcinoma giant cell glioblastoma glioblastoma gliosarcoma granular cell carcinoma hematologic cancer hemiplegia hepatocellular carcinoma high grade glioma large intestine cancer liver cancer lung benign neoplasm lung cancer lung carcinoma lung squamous cell carcinoma mixed glioma multiple endocrine neoplasia type 1 myopathy obsolete autosomal recessive nonsyndromic deafness 105 osteosarcoma pancreatic adenocarcinoma pancreatic cancer pancreatic carcinoma penis squamous cell carcinoma prostate cancer prostate carcinoma rheumatoid arthritis sarcoma sarcomatoid carcinoma situs inversus spastic diplegia spastic monoplegia spastic quadriplegic cerebral palsy spindle cell sarcoma squamous cell carcinoma tongue squamous cell carcinoma tuberous sclerosis tubular adenocarcinoma
P06865	Beta-hexosaminidase subunit alpha	HEXA	Homo sapiens (human)	7	27	GM2 gangliosidosis, AB variant GM2 gangliosidosis Gaucher's disease Hodgkin's granuloma Hodgkin's lymphoma, lymphocytic depletion Hodgkin's lymphoma, lymphocytic-histiocytic predominance Hodgkin's lymphoma, mixed cellularity Hodgkin's lymphoma Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Sandhoff disease Tay-Sachs disease Werdnig-Hoffmann disease acquired immunodeficiency syndrome adult lymphoma amyotrophic lateral sclerosis blindness cancer central nervous system cancer central nervous system lymphoma childhood lymphoma childhood spinal muscular atrophy cystic fibrosis dementia diffuse scleroderma embryoma epilepsy gangliosidosis gliosarcoma glycoproteinosis high grade glioma human immunodeficiency virus infectious disease inherited metabolic disorder intellectual disability juvenile spinal muscular atrophy learning disability lingual-facial-buccal dyskinesia lymphoma lysosomal storage disease mixed glioma movement disease mucolipidosis type IV neurodegenerative disease obesity obsolete ymphosarcoma progressive muscular atrophy rheumatoid arthritis sensorineural hearing loss sickle cell anemia spinal muscular atrophy visual epilepsy
P07686	Beta-hexosaminidase subunit beta	HEXB	Homo sapiens (human)	6	47	GM2 gangliosidosis, AB variant GM2 gangliosidosis HCL-V Sandhoff disease Schimke immuno-osseous dysplasia Tay-Sachs disease Unverricht-Lundborg syndrome acquired immunodeficiency syndrome acute kidney failure allergic asthma amyotrophic lateral sclerosis type 1 amyotrophic lateral sclerosis type 2 amyotrophic lateral sclerosis type 4 anhidrosis anterior horn cell disease asthma autosomal recessive distal hereditary motor neuronopathy 1 blindness central nervous system cancer colon cancer colon carcinoma colonic benign neoplasm colorectal cancer congenital nystagmus dissociated nystagmus early myoclonic encephalopathy epilepsy gangliosidosis gliosarcoma hairy cell leukemia high grade glioma human immunodeficiency virus infectious disease hypohidrosis impotence inherited metabolic disorder intrinsic asthma kidney disease large intestine cancer lateral sclerosis liver cirrhosis lysosomal storage disease mixed glioma motor neuron disease multiple system atrophy neurodegenerative disease pathologic nystagmus postural orthostatic tachycardia syndrome premature ejaculation psychologic dyspareunia retinal disease retinitis rheumatoid arthritis spontaneous ocular nystagmus visual epilepsy
Q9H227	Cytosolic beta-glucosidase	GBA3 CBG CBGL1	Homo sapiens (human)	3	1	Gaucher's disease type I Gaucher's disease Goodpasture syndrome Takayasu's arteritis West Nile fever allergic asthma asthma cancer cystic fibrosis diabetic ketoacidosis granulomatosis with polyangiitis hepatocellular carcinoma liver cancer obsolete type 1 diabetes mellitus 9 polyarteritis nodosa stomach cancer stomach carcinoma substance abuse substance-related disorder 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
P15813	Antigen-presenting glycoprotein CD1d	CD1D	Homo sapiens (human)	4	0	Gaucher's disease HCL-V Kaposi's sarcoma Richter's syndrome X-linked lymphoproliferative syndrome 1 X-linked lymphoproliferative syndrome 2 abdominal aortic aneurysm actinic keratosis acute lymphoblastic leukemia adrenoleukodystrophy adult lymphoma adult medulloblastoma allergic asthma allergic contact dermatitis alternating hemiplegia of childhood antiphospholipid syndrome arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease asthma atherosclerosis atopic dermatitis autoimmune disease autoimmune hepatitis autoimmune lymphoproliferative syndrome autoimmune polyendocrine syndrome type 1 autoimmune polyendocrine syndrome autonomic neuropathy bacterial infectious disease breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma celiac disease central nervous system disease central nervous system lymphoma childhood leukemia childhood lymphoma childhood medulloblastoma choriocarcinoma chromophobe renal cell carcinoma chronic fatigue syndrome chronic lymphocytic leukemia chronic obstructive pulmonary disease clear cell renal cell carcinoma colitis collecting duct carcinoma common variable immunodeficiency coronary artery disease cystic fibrosis demyelinating disease diabetes mellitus diabetic ketoacidosis embryoma encephalitis encephalomyelitis eosinophilic esophagitis epithelioid sarcoma gallbladder disease gastroenteritis granular corneal dystrophy 2 hairy cell leukemia hepatitis A hepatitis B hepatitis C hepatitis hepatocellular carcinoma hypereosinophilic syndrome ileitis ileocolitis immune system disease inflammatory bowel disease intrinsic asthma lepromatous leprosy leukemia liver cancer liver cirrhosis liver disease lung benign neoplasm lung cancer lung carcinoma lung disease lung non-small cell carcinoma lupus erythematosus lymphoblastic lymphoma lymphoma lysosomal storage disease malaria medulloblastoma medullomyoblastoma melanoma melanotic medulloblastoma mitral valve stenosis mucopolysaccharidosis II mucopolysaccharidosis III mucopolysaccharidosis IV mucopolysaccharidosis VI mucopolysaccharidosis multiple myeloma multiple sclerosis myelitis nervous system disease neuroblastoma neuropathy nonpapillary renal cell carcinoma obesity obsolete type 1 diabetes mellitus 9 obsolete ymphosarcoma pancytopenia papillary renal cell carcinoma parapsoriasis paroxysmal nocturnal hemoglobinuria pemphigus periodontitis peripheral T-cell lymphoma peripheral nervous system disease placenta cancer primary biliary cholangitis prostate cancer prostate carcinoma psoriasis pustulosis of palm and sole renal carcinoma renal cell carcinoma rheumatoid arthritis sarcoma sarcomatoid carcinoma sarcomatoid renal cell carcinoma scleroderma seborrheic keratosis skin disease skin melanoma spindle cell sarcoma steatotic liver disease stomach cancer stomach carcinoma systemic lupus erythematosus systemic scleroderma thyroid adenoma thyroid cancer thyroid gland anaplastic carcinoma thyroid gland carcinoma type 1 diabetes mellitus 10 type 1 diabetes mellitus 11 type 1 diabetes mellitus 12 type 1 diabetes mellitus 13 type 1 diabetes mellitus 15 type 1 diabetes mellitus 17 type 1 diabetes mellitus 18 type 1 diabetes mellitus 19 type 1 diabetes mellitus 20 type 1 diabetes mellitus 21 type 1 diabetes mellitus 22 type 1 diabetes mellitus 23 type 1 diabetes mellitus 24 type 1 diabetes mellitus 2 type 1 diabetes mellitus 3 type 1 diabetes mellitus 4 type 1 diabetes mellitus 5 type 1 diabetes mellitus 6 type 1 diabetes mellitus 7 type 1 diabetes mellitus 8 type 1 diabetes mellitus type 2 diabetes mellitus vasculitis viral infectious disease
P33908	Mannosyl-oligosaccharide 1,2-alpha-mannosidase IA	MAN1A1	Homo sapiens (human)	1	3	Gaucher's disease acquired immunodeficiency syndrome breast cancer cancer congenital disorder of glycosylation Ih congenital disorder of glycosylation type I congenital disorder of glycosylation diabetes mellitus human immunodeficiency virus infectious disease ovarian cancer ovarian carcinoma type 2 diabetes mellitus
P30613	Pyruvate kinase PKLR	PKLR PK1 PKL	Homo sapiens (human)	0	1	Gaucher's disease acquired polycythemia anemia breast cancer breast carcinoma cancer cholecystitis cholecystolithiasis choledocholithiasis cholelithiasis colorectal cancer colorectal carcinoma congenital hemolytic anemia congenital nonspherocytic hemolytic anemia depressive disorder diabetes mellitus diabetic ketoacidosis episodic kinesigenic dyskinesia 1 erythropoietin polycythemia familial erythrocytosis 1 familial erythrocytosis 2 favism gallbladder cancer gallbladder carcinoma hematopoietic system disease hemoglobinopathy hemolytic anemia hepatocellular carcinoma hereditary elliptocytosis hereditary sensory neuropathy type 4 hereditary sensory neuropathy hyperglycemia large intestine cancer liver cancer lung benign neoplasm macrocytic anemia major depressive disorder malaria melancholic depression obsolete melancholia optic atrophy 1 optic atrophy pancreatic cancer pancreatic carcinoma polycythemia vera polycythemia primary polycythemia prostate cancer prostate carcinoma pyruvate kinase deficiency of red cells sensory peripheral neuropathy stress polycythemia thalassemia type 2 diabetes mellitus
P46976	Glycogenin-1	GYG1 GYG	Homo sapiens (human)	1	1	Gerstmann-Straussler-Scheinker syndrome Gorham's disease Lafora disease 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 central nervous system origin vertigo coronary artery disease cystinuria diabetes mellitus disease of metabolism endomyocardial fibrosis familial periodic paralysis galactosemia glucosephosphate dehydrogenase deficiency glycogen storage disease II glycogen storage disease IXa glycogen storage disease IXb glycogen storage disease IXc glycogen storage disease IXd glycogen storage disease Ia glycogen storage disease XV glycogen storage disease hypertrophic cardiomyopathy myopathy sick sinus syndrome type 2 diabetes mellitus
P06737	Glycogen phosphorylase, liver form	PYGL	Homo sapiens (human)	3	3	Gerstmann-Straussler-Scheinker syndrome Gorham's disease Laron syndrome achondroplasia cystinuria galactosemia glucosephosphate dehydrogenase deficiency glycogen storage disease III glycogen storage disease IV glycogen storage disease Ia glycogen storage disease V glycogen storage disease VI glycogen storage disease VII glycogen storage disease hepatocellular carcinoma hypoglycemia liver cancer
P11217	Glycogen phosphorylase, muscle form	PYGM	Homo sapiens (human)	0	1	Gerstmann-Straussler-Scheinker syndrome Gorham's disease Peutz-Jeghers syndrome X-linked myopathy with excessive autophagy autosomal dominant limb-girdle muscular dystrophy type 1 autosomal dominant limb-girdle muscular dystrophy type 1H autosomal dominant limb-girdle muscular dystrophy type 2 autosomal dominant limb-girdle muscular dystrophy type 3 autosomal dominant limb-girdle muscular dystrophy autosomal recessive limb-girdle muscular dystrophy type 2A autosomal recessive limb-girdle muscular dystrophy type 2B autosomal recessive limb-girdle muscular dystrophy type 2C autosomal recessive limb-girdle muscular dystrophy type 2D autosomal recessive limb-girdle muscular dystrophy type 2E autosomal recessive limb-girdle muscular dystrophy type 2F autosomal recessive limb-girdle muscular dystrophy type 2G autosomal recessive limb-girdle muscular dystrophy type 2H autosomal recessive limb-girdle muscular dystrophy type 2I autosomal recessive limb-girdle muscular dystrophy type 2J autosomal recessive limb-girdle muscular dystrophy type 2K autosomal recessive limb-girdle muscular dystrophy type 2L autosomal recessive limb-girdle muscular dystrophy type 2M autosomal recessive limb-girdle muscular dystrophy type 2N autosomal recessive limb-girdle muscular dystrophy type 2O autosomal recessive limb-girdle muscular dystrophy type 2P autosomal recessive limb-girdle muscular dystrophy type 2Q autosomal recessive limb-girdle muscular dystrophy type 2S autosomal recessive limb-girdle muscular dystrophy type 2T autosomal recessive limb-girdle muscular dystrophy type 2U autosomal recessive limb-girdle muscular dystrophy type 2Y autosomal recessive limb-girdle muscular dystrophy bacterial sepsis breast cancer breast carcinoma cancer carcinoma cholestasis coronary artery disease cystinuria disease of metabolism distal myopathy facioscapulohumeral muscular dystrophy familial adenomatous polyposis familial periodic paralysis galactosemia gastrinoma glucosephosphate dehydrogenase deficiency glycogen storage disease IV glycogen storage disease IXa glycogen storage disease IXb glycogen storage disease IXc glycogen storage disease IXd glycogen storage disease Ia glycogen storage disease V glycogen storage disease VI glycogen storage disease VII glycogen storage disease gout head and neck squamous cell carcinoma insulinoma invasive lobular carcinoma islet cell tumor isolated elevated serum creatine phosphokinase levels kidney failure limb-girdle muscular dystrophy lipoma melanoma multiple endocrine neoplasia type 1 multiple symmetric lipomatosis muscular dystrophy myoglobinuria myopathy obsolete autosomal dominant limb-girdle muscular dystrophy type 1A obsolete autosomal dominant limb-girdle muscular dystrophy type 1B obsolete autosomal dominant limb-girdle muscular dystrophy type 1C obsolete autosomal recessive limb-girdle muscular dystrophy type 2R oculopharyngeal muscular dystrophy pleomorphic lipoma pre-eclampsia pseudosarcomatous fibromatosis sarcomatoid carcinoma skin melanoma vitelliform macular dystrophy von Hippel-Lindau disease
Q9Y2V7	Conserved oligomeric Golgi complex subunit 6	COG6 KIAA1134	Homo sapiens (human)	2	1	Gilbert syndrome acquired hyperkeratosis allergic asthma anemia anhidrosis asthma bilirubin metabolic disorder blood coagulation disease cerebral degeneration cholestasis congenital disorder of glycosylation type II congenital disorder of glycosylation type IIl congenital disorder of glycosylation coronary artery disease dental caries dental enamel hypoplasia dentin caries developmental and epileptic encephalopathy 36 epilepsy gastroenteritis gastrointestinal system disease hydrocephalus hypohidrosis intellectual disability intestinal disease intrinsic asthma juvenile rheumatoid arthritis learning disability leiomyoma macrocytic anemia microcephaly myofibroma nonepidermolytic palmoplantar keratoderma palmoplantar keratosis pancytopenia parapsoriasis placental insufficiency primary biliary cholangitis primary immunodeficiency disease proctitis psoriasis pustulosis of palm and sole rheumatoid arthritis systemic lupus erythematosus thrombocytopenia uterine fibroid visual epilepsy
P05062	Fructose-bisphosphate aldolase B	ALDOB ALDB	Homo sapiens (human)	0	1	Gilbert syndrome autoimmune hepatitis bilirubin metabolic disorder blood coagulation disease cancer cataract chromophobe renal cell carcinoma chronic kidney disease clear cell renal cell carcinoma collecting duct carcinoma colorectal cancer colorectal carcinoma diabetes mellitus diarrhea epilepsy hepatitis hepatocellular carcinoma hereditary fructose intolerance syndrome hyperglycemia hyperuricemia hypoglycemia hypophosphatemia inflammatory bowel disease 1 inflammatory bowel disease intellectual disability kwashiorkor lactic acidosis large intestine cancer learning disability liver benign neoplasm liver cancer liver cirrhosis marasmus nonpapillary renal cell carcinoma nutrition disease obesity obsolete constipation obsolete inherited blood coagulation disease papillary renal cell carcinoma peritonitis protein-energy malnutrition rectal benign neoplasm rectum adenocarcinoma rectum cancer renal carcinoma renal cell carcinoma renal tubular acidosis sarcomatoid renal cell carcinoma steatotic liver disease stomach cancer stomach carcinoma type 2 diabetes mellitus ulcerative colitis visual epilepsy
Q9UQ52	Contactin-6	CNTN6	Homo sapiens (human)	14	4	Gilles de la Tourette syndrome Hirschsprung's disease Parkinson's disease 2 acquired immunodeficiency syndrome adenoid cystic carcinoma alcohol dependence alcohol use disorder anorexia nervosa attention deficit hyperactivity disorder autism spectrum disorder autistic disorder bipolar disorder breast cancer communicating hydrocephalus cone-rod dystrophy 2 cone-rod dystrophy differentiated thyroid gland carcinoma epilepsy hydrocephalus intellectual disability learning disability obstructive hydrocephalus ovarian carcinoma salivary gland adenoid cystic carcinoma schizophrenia senile degeneration of brain systemic lupus erythematosus
Q9H6U8	Alpha-1,2-mannosyltransferase ALG9	ALG9 DIBD1	Homo sapiens (human)	4	2	Gilles de la Tourette syndrome Marfan syndrome Meckel syndrome 1 Meckel syndrome 2 Meckel syndrome 3 Meckel syndrome 4 Meckel syndrome 5 Meckel syndrome 6 Meckel syndrome 8 Meckel syndrome autosomal dominant polycystic kidney disease cardiovascular system disease congenital disorder of glycosylation Il congenital disorder of glycosylation type I congenital disorder of glycosylation congenital heart disease congestive heart failure craniosynostosis cystic kidney disease cystinuria enophthalmos epilepsy esotropia galactokinase deficiency galactosemia glucosephosphate dehydrogenase deficiency glycogen storage disease Ia glycogen storage disease heart disease heart septal defect hemopericardium intellectual disability learning disability microcephaly monocular esotropia mucopolysaccharidosis IV multiple epiphyseal dysplasia neuroendocrine carcinoma neuroendocrine tumor obsolete exophthalmos orbital disease osteochondrodysplasia pericardial effusion polycystic kidney disease 1 polycystic liver disease psychotic disorder schizoaffective disorder schizophrenia schizophreniform disorder situs inversus tuberous sclerosis visual epilepsy
Q86Y78	Ly6/PLAUR domain-containing protein 6	LYPD6	Homo sapiens (human)	7	2	Gilles de la Tourette syndrome anxiety disorder generalized anxiety disorder phobic disorder
Q12918	Killer cell lectin-like receptor subfamily B member 1	KLRB1 CLEC5B NKRP1A	Homo sapiens (human)	1	0	Goodpasture syndrome Takayasu's arteritis acquired immunodeficiency syndrome acute promyelocytic leukemia aggressive NK-cell leukemia allergic asthma arthritis arthropathy asthma autoimmune disease autoimmune lymphoproliferative syndrome type 2A autoimmune lymphoproliferative syndrome type 2B autoimmune lymphoproliferative syndrome type 3 autoimmune lymphoproliferative syndrome bone disease bronchus cancer bronchus carcinoma cancer cartilage disease cataract connective tissue disease eclampsia embryoma familial multiple nevi flammei granulomatosis with polyangiitis hepatitis A hepatitis B hepatitis C hepatitis hepatocellular carcinoma hidradenitis suppurativa hidradenitis human immunodeficiency virus infectious disease immune system disease influenza intermittent claudication intrinsic asthma liver cancer lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lymphoproliferative syndrome 1 lymphoproliferative syndrome 2 melanoma mitral valve stenosis multiple myeloma multiple sclerosis myocarditis osteoarthritis peeling skin syndrome periodontitis placental insufficiency pneumonia polyarteritis nodosa pompholyx prostate cancer prostate carcinoma psoriatic arthritis rheumatoid arthritis scleroderma skin melanoma spondyloarthropathy spondylosis systemic Epstein-Barr virus positive T-cell lymphoma of childhood systemic lupus erythematosus systemic scleroderma tuberculosis urinary bladder cancer viral infectious disease
O15327	Inositol polyphosphate 4-phosphatase type II	INPP4B	Homo sapiens (human)	0	1	Goodpasture syndrome Takayasu's arteritis acute monocytic leukemia acute myeloid leukemia adenocarcinoma adenoma adult lymphoma amyotrophic lateral sclerosis type 1 amyotrophic lateral sclerosis type 6 benign breast phyllodes tumor bladder carcinoma bone osteosarcoma breast adenocarcinoma breast cancer breast carcinoma breast fibroadenosis breast fibrocystic disease breast malignant phyllodes tumor bronchus cancer bronchus carcinoma cancer carcinoma central nervous system lymphoma cervical adenocarcinoma cervical cancer cervix carcinoma childhood leukemia childhood lymphoma childhood osteosarcoma chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma cribriform carcinoma embryoma goiter granular cell carcinoma granulomatosis with polyangiitis hepatocellular carcinoma inflammatory breast carcinoma large intestine cancer laryngeal benign neoplasm laryngeal carcinoma larynx cancer leukemia liver cancer lung benign neoplasm lung cancer lung carcinoma lung squamous cell carcinoma lymphoma melanoma microglandular adenosis multiple sclerosis nasopharynx carcinoma nonpapillary renal cell carcinoma obsolete ymphosarcoma osteoporosis osteosarcoma ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma papillary adenocarcinoma papillary renal cell carcinoma polyarteritis nodosa prostate cancer prostate carcinoma renal carcinoma renal cell carcinoma sarcomatoid carcinoma sarcomatoid renal cell carcinoma skin melanoma thyroid adenoma thyroid cancer thyroid gland carcinoma thyroid gland disease thyroid gland papillary carcinoma tubular adenocarcinoma urinary bladder cancer
O60701	UDP-glucose 6-dehydrogenase	UGDH	Homo sapiens (human)	1	1	Graves' disease Laron syndrome Zollinger-Ellison syndrome achondroplasia beta thalassemia breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer cholangiocarcinoma diarrhea enophthalmos giant cell glioblastoma giardiasis glioblastoma hepatocellular carcinoma high grade glioma hyperinsulinism hyperthyroidism hypoglycemia intrahepatic cholangiocarcinoma liver cancer lung benign neoplasm lung cancer lung carcinoma obsolete exophthalmos orbital disease peripheral artery disease placental insufficiency primary hyperoxaluria thalassemia thyrotoxicosis
Q9NY97	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 2	B3GNT2 B3GALT7 B3GNT1	Homo sapiens (human)	8	21	Graves' disease Walker-Warburg syndrome acute myocardial infarction cancer congenital muscular dystrophy-dystroglycanopathy type A1 coronary thrombosis hyperthyroidism myocardial infarction parapsoriasis prostate cancer prostate carcinoma psoriasis pustulosis of palm and sole schizophrenia silent myocardial infarction thyrotoxicosis transitional cell carcinoma
Q02338	D-beta-hydroxybutyrate dehydrogenase, mitochondrial	BDH1 BDH SDR9C1	Homo sapiens (human)	1	1	Graves' disease X-linked dilated cardiomyopathy breast cancer cancer central nervous system cancer congestive heart failure 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 gliosarcoma hepatitis high grade glioma hyperthyroidism mixed glioma nicotine dependence thyrotoxicosis
Q11201	CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 1	ST3GAL1 SIAT4 SIAT4A	Homo sapiens (human)	6	34	Graves' disease bipolar disorder bladder carcinoma breast cancer breast carcinoma cancer cervical squamous cell carcinoma chronic myeloid leukemia embryoma hyperthyroidism mucopolysaccharidosis IV mucopolysaccharidosis IVA ovarian cancer ovarian carcinoma ovary serous adenocarcinoma prostate cancer prostate carcinoma psychotic disorder schizoaffective disorder schizophrenia schizophreniform disorder scleroderma skin squamous cell carcinoma systemic scleroderma thyrotoxicosis urinary bladder cancer
O00451	GDNF family receptor alpha-2	GFRA2 GDNFRB RETL2 TRNR2	Homo sapiens (human)	6	6	Grn-related frontotemporal lobar degeneration with Tdp43 inclusions Hirschsprung's disease adenocarcinoma adenoma bipolar disorder cancer colorectal cancer colorectal carcinoma follicular adenoma frontotemporal dementia hepatocellular carcinoma large intestine cancer lingual-facial-buccal dyskinesia liver cancer microcystic adenoma neuroblastoma neuropathy pancreatic cancer pancreatic carcinoma papillary adenoma peripheral nervous system disease polyneuropathy preretinal fibrosis schizophrenia secondary Parkinson disease

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