GlyCosmos Portal

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UniProt ID	Protein Name	Gene Symbol	No. of Glycosylation Sites	No. of GlyTouCan IDs ▲	Disease Ontology
O43451	Maltase-glucoamylase	MGAM MGA MGAML	26	110	Duchenne muscular dystrophy Fabry disease Gaucher's disease Gerstmann-Straussler-Scheinker syndrome Gorham's disease Japanese encephalitis adenocarcinoma adenoma amyotrophic lateral sclerosis arteriosclerotic cardiovascular disease atherosclerosis autosomal dominant Emery-Dreifuss muscular dystrophy 2 autosomal dominant limb-girdle muscular dystrophy type 1 autosomal dominant limb-girdle muscular dystrophy type 1H autosomal dominant limb-girdle muscular dystrophy type 2 autosomal dominant limb-girdle muscular dystrophy type 3 autosomal dominant limb-girdle muscular dystrophy autosomal recessive limb-girdle muscular dystrophy type 2A autosomal recessive limb-girdle muscular dystrophy type 2B autosomal recessive limb-girdle muscular dystrophy type 2C autosomal recessive limb-girdle muscular dystrophy type 2D autosomal recessive limb-girdle muscular dystrophy type 2E autosomal recessive limb-girdle muscular dystrophy type 2F autosomal recessive limb-girdle muscular dystrophy type 2G autosomal recessive limb-girdle muscular dystrophy type 2H autosomal recessive limb-girdle muscular dystrophy type 2I autosomal recessive limb-girdle muscular dystrophy type 2J autosomal recessive limb-girdle muscular dystrophy type 2K autosomal recessive limb-girdle muscular dystrophy type 2L autosomal recessive limb-girdle muscular dystrophy type 2M autosomal recessive limb-girdle muscular dystrophy type 2N autosomal recessive limb-girdle muscular dystrophy type 2O autosomal recessive limb-girdle muscular dystrophy type 2P autosomal recessive limb-girdle muscular dystrophy type 2Q autosomal recessive limb-girdle muscular dystrophy type 2S autosomal recessive limb-girdle muscular dystrophy type 2T autosomal recessive limb-girdle muscular dystrophy type 2U autosomal recessive limb-girdle muscular dystrophy type 2Y autosomal recessive limb-girdle muscular dystrophy brachydactyly type C brachydactyly breast cancer breast carcinoma cancer cardiomyopathy cardiovascular system disease chylomicron retention disease congenital disorder of glycosylation congenital muscular dystrophy coronary artery disease cribriform carcinoma cystic fibrosis cystinuria dengue disease depressive disorder diabetes mellitus diabetic ketoacidosis dilated cardiomyopathy 1A dilated cardiomyopathy distal myopathy embryoma endomyocardial fibrosis facioscapulohumeral muscular dystrophy familial hypertrophic cardiomyopathy 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 granular cell carcinoma heart disease hyperglycemia hypertrophic cardiomyopathy hypoglycemia limb-girdle muscular dystrophy lipid storage disease lysosomal storage disease major depressive disorder melancholic depression muscular dystrophy myofibrillar myopathy 1 myofibrillar myopathy 3 myopathy myotonic dystrophy type 1 myotonic dystrophy type 2 neuromuscular disease nutmeg liver obesity obsolete autosomal dominant limb-girdle muscular dystrophy type 1A obsolete autosomal dominant limb-girdle muscular dystrophy type 1B obsolete autosomal dominant limb-girdle muscular dystrophy type 1C obsolete autosomal recessive limb-girdle muscular dystrophy type 2R obsolete constipation obsolete melancholia oculopharyngeal muscular dystrophy progressive muscular atrophy prolactinoma punctate palmoplantar keratoderma type III rippling muscle disease 2 squamous cell carcinoma tongue squamous cell carcinoma tubular adenocarcinoma type 2 diabetes mellitus viral infectious disease yellow fever
P05362	Intercellular adhesion molecule 1	ICAM1	12	111	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 Barrett's esophagus Behcet's disease Burkitt lymphoma Clostridium difficile colitis Crimean-Congo hemorrhagic fever Crohn's colitis Crohn's disease Down syndrome Fabry disease Fanconi anemia complementation group A Fanconi anemia Friedreich ataxia 1 Friedreich ataxia Graves' disease Guillain-Barre syndrome Hallermann-Streiff syndrome Henoch-Schoenlein purpura Hirschsprung's disease Hodgkin's granuloma Hodgkin's lymphoma, lymphocytic depletion Hodgkin's lymphoma, lymphocytic-histiocytic predominance Hodgkin's lymphoma, mixed cellularity Hodgkin's lymphoma IgA glomerulonephritis Japanese encephalitis Kallmann syndrome Kawasaki disease Keshan disease Kyasanur forest disease Lambert-Eaton myasthenic syndrome Langerhans-cell histiocytosis Marfan syndrome Miller Fisher syndrome Mycobacterium avium complex disease Netherton syndrome Niemann-Pick disease type B Niemann-Pick disease Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Pick's disease Plasmodium falciparum malaria Reye syndrome Richter's syndrome Riley-Day syndrome Sjogren's syndrome T-cell acute lymphoblastic leukemia T-cell childhood lymphoblastic lymphoma Werner syndrome X-linked adrenal hypoplasia congenita abdominal aortic aneurysm abdominal obesity-metabolic syndrome 1 acquired immunodeficiency syndrome acrodermatitis acute chest syndrome acute kidney failure acute lymphoblastic leukemia acute monocytic leukemia acute myeloid leukemia acute myocardial infarction acute pancreatitis acute promyelocytic leukemia acute pyelonephritis adenocarcinoma adenoma adrenoleukodystrophy adult T-cell leukemia/lymphoma adult acute lymphocytic leukemia adult lymphoma adult respiratory distress syndrome adult-onset Still's disease age related macular degeneration alcoholic hepatitis allergic asthma allergic rhinitis alopecia areata alopecia anaplastic astrocytoma anemia angioedema angiosarcoma aortic valve disease 1 aortic valve insufficiency aortic valve stenosis aplastic anemia arachnoiditis arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arteriovenous malformation arthritis arthropathy ascending cholangitis aseptic meningitis asthma atherosclerosis atopic dermatitis atrial fibrillation atypical chronic myeloid leukemia, BCR-ABL1 negative autoimmune disease autoimmune lymphoproliferative syndrome type 2A autoimmune lymphoproliferative syndrome type 2B autoimmune lymphoproliferative syndrome type 3 autoimmune lymphoproliferative syndrome autoimmune thyroiditis bacterial infectious disease bacterial meningitis bacterial sepsis basal cell carcinoma benign mastocytoma benign mesothelioma bicuspid aortic valve disease biliary atresia bladder carcinoma blastomycosis blind loop syndrome bone cancer bone osteosarcoma botryoid rhabdomyosarcoma brain cancer brain edema brain ischemia brain stem infarction breast cancer breast carcinoma bronchiectasis bronchiolitis obliterans bronchiolitis bronchitis bronchus cancer bronchus carcinoma bulbar polio bullous pemphigoid cancer capillary leak syndrome carcinoma cardiac arrest cardiomyopathy cardiovascular system disease carotid artery disease cataract 5 multiple types celiac disease central nervous system cancer central nervous system disease central nervous system leukemia central nervous system lymphoma central retinal vein occlusion cerebral artery occlusion cerebral cavernous malformation 1 cerebral degeneration cerebral infarction cerebral malaria cerebrovascular disease cervical adenocarcinoma cervical cancer cervix carcinoma chancroid childhood acute lymphocytic leukemia childhood cerebral astrocytoma childhood leukemia childhood lymphoma childhood osteosarcoma childhood type dermatomyositis cholangiocarcinoma cholangitis cholera cholestasis chondrosarcoma chorioretinitis choroiditis chromophobe renal cell carcinoma chronic apical periodontitis chronic ethmoiditis chronic fatigue syndrome chronic interstitial cystitis chronic kidney disease chronic lymphocytic leukemia chronic monocytic leukemia chronic myeloid leukemia chronic obstructive pulmonary disease chronic sphenoidal sinusitis chylomicron retention disease ciliary body disease clear cell renal cell carcinoma colitis collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma common cold complex partial epilepsy congenital diaphragmatic hernia congestive heart failure corneal disease corneal neovascularization coronary artery disease coronary stenosis coronary thrombosis crescentic glomerulonephritis cribriform carcinoma cryptococcosis cryptosporidiosis cutaneous fibrous histiocytoma cutaneous mastocytosis cystic fibrosis cystinuria dacryoadenitis dacryocystitis degeneration of macula and posterior pole degenerative disc disease dementia demyelinating disease dengue disease dengue hemorrhagic fever depressive disorder dermatitis herpetiformis dermatitis dermatomyositis dermatophytosis developmental and epileptic encephalopathy 36 diabetes mellitus diabetic cataract diabetic ketoacidosis diabetic macular edema diabetic retinopathy diffuse cutaneous mastocytosis disease of mental health distal arthrogryposis dry eye syndrome dysplastic nevus syndrome dysthymic disorder embryoma embryonal rhabdomyosarcoma encephalitis encephalomyelitis endocarditis endocrine exophthalmos endometriosis of ovary endometriosis of uterus endometriosis endometritis endomyocardial fibrosis enophthalmos eosinophilic esophagitis epilepsy esophageal cancer esophageal carcinoma esophagus adenocarcinoma esophagus squamous cell carcinoma essential hypertension essential thrombocythemia extracutaneous mastocytoma extramedullary plasmacytoma exudative vitreoretinopathy 1 exudative vitreoretinopathy eye disease familial adenomatous polyposis familial hypercholesterolemia familial hypertrophic cardiomyopathy familial multiple nevi flammei familial retinoblastoma fibrillary astrocytoma fibrosarcoma fungal infectious disease galactosemia gallbladder disease gastritis gastroenteritis gastrointestinal system cancer gastroschisis gemistocytic astrocytoma gestational diabetes giant cell glioblastoma gingival fibromatosis glioblastoma gliosarcoma glomerulonephritis glucose intolerance glucosephosphate dehydrogenase deficiency glycogen storage disease Ia glycogen storage disease goiter granular cell carcinoma granuloma annulare heart disease hematologic cancer hemochromatosis type 1 hemochromatosis hepatitis B hepatitis C hepatitis hepatoblastoma hepatocellular carcinoma heroin dependence herpes simplex hiatus hernia hidradenoma high grade glioma human immunodeficiency virus infectious disease hyper IgE recurrent infection syndrome 1 hypereosinophilic syndrome hyperglycemia hyperhomocysteinemia hypersensitivity vasculitis hypertension hyperthyroidism hypertrophic cardiomyopathy 1 hypertrophic cardiomyopathy hypogonadotropic hypogonadism 1 with or without anosmia idiopathic interstitial pneumonia idiopathic pulmonary fibrosis ileitis ileocolitis immune system disease inclusion body myositis indolent systemic mastocytosis infective endocarditis inflammatory bowel disease 1 inflammatory bowel disease influenza intermediate coronary syndrome intermittent claudication interstitial cystitis interstitial lung disease intestinal infectious disease intestinal schistosomiasis intracranial abscess intrahepatic cholangiocarcinoma intrinsic asthma iris disease islet cell tumor juvenile pilocytic astrocytoma juvenile rheumatoid arthritis keratoconjunctivitis sicca keratoconus keratopathy keratosis follicularis kidney cancer kidney disease kidney failure kwashiorkor lactic acidosis large intestine cancer leech infestation lepromatous leprosy leptospirosis lesion of sciatic nerve leukemia leukopenia leukostasis lipid storage disease liver cancer liver carcinoma liver cirrhosis liver disease localized scleroderma low compliance bladder lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung disease lung non-small cell carcinoma lung small cell carcinoma lupus erythematosus lupus nephritis lymphatic system disease lymphogranuloma venereum lymphoid leukemia lymphoma lymphoproliferative syndrome 1 lymphoproliferative syndrome 2 macrocytic anemia macular degeneration major depressive disorder malaria malignant astrocytoma malignant mesothelioma malignant pleural mesothelioma marasmus mast cell neoplasm mastocytosis melancholic depression melanoma meningitis mesenteric vascular occlusion microcephaly middle cerebral artery infarction migraine mixed glioma mongolian spot monocytic leukemia multiple myeloma multiple sclerosis multiple system atrophy mumps mycotic corneal ulcer myelitis myelodysplastic syndrome myeloid leukemia myeloproliferative disorder with eosinophilia myiasis myocardial infarction narcolepsy nasopharyngitis nasopharynx carcinoma necrotizing ulcerative gingivitis nephritis nephrosis nervous system disease neuroblastoma neurodegenerative disease neuropathy neurotic disorder newborn respiratory distress syndrome non-Hodgkin lymphoma nonpapillary renal cell carcinoma nutmeg liver nutrition disease obesity obsolete T-cell lymphoblastic leukemia/lymphoma obsolete exophthalmos obsolete melancholia obsolete type 1 diabetes mellitus 9 obsolete ymphosarcoma obstructive sleep apnea orbital disease osteoarthritis osteoporosis osteosarcoma ovarian cancer ovarian carcinoma pancreatic adenocarcinoma pancreatic cancer pancreatic carcinoma pancreatitis panuveitis papillary adenocarcinoma papillary renal cell carcinoma papilloma paracoccidioidomycosis parapsoriasis periapical granuloma periapical periodontitis perinatal necrotizing enterocolitis periodontitis peripheral nervous system disease peripheral vascular disease photosensitive trichothiodystrophy pilocytic astrocytoma plasma cell leukemia plasmacytoma pleurisy pneumonia poliomyelitis polycystic ovary syndrome polycythemia vera polymyalgia rheumatica post-traumatic stress disorder posterior uveitis postinflammatory pulmonary fibrosis pre-eclampsia prediabetes syndrome primary biliary cholangitis primary ciliary dyskinesia 1 primary ciliary dyskinesia primary cutaneous amyloidosis primary immunodeficiency disease primary pulmonary hypertension primary sclerosing cholangitis progeria proliferative diabetic retinopathy prolymphocytic leukemia prostate cancer prostate carcinoma protein-energy malnutrition proteinuria protoplasmic astrocytoma prune belly syndrome pseudoxanthoma elasticum psoriasis psychotic disorder pulmonary fibrosis pulmonary hypertension pulmonary tuberculosis pustulosis of palm and sole pyoureter rapidly progressive glomerulonephritis relapsing-remitting multiple sclerosis renal carcinoma renal cell carcinoma renal hypertension renal osteodystrophy respiratory syncytial virus infectious disease reticulosarcoma retinal disease retinitis retinoblastoma retinopathy of prematurity rhabdomyosarcoma rheumatic fever rheumatoid arthritis rhinitis sarcomatoid carcinoma sarcomatoid renal cell carcinoma schizophrenia sciatic neuropathy scleroderma sclerosing cholangitis seminoma sick sinus syndrome silent myocardial infarction situs inversus skin benign neoplasm skin cancer skin melanoma skin papilloma skin tag spondylocarpotarsal synostosis syndrome squamous cell carcinoma squamous cell papilloma steatotic liver disease stomach cancer stomach carcinoma subacute bacterial endocarditis subependymal giant cell astrocytoma suppurative cholangitis synovitis syringoma systemic Epstein-Barr virus positive T-cell lymphoma of childhood systemic lupus erythematosus systemic scleroderma temporal arteritis temporal lobe epilepsy tenosynovitis testicular cancer testis seminoma thromboangiitis obliterans thymic carcinoma thymoma thyroid adenoma thyroid cancer thyroid gland anaplastic carcinoma thyroid gland carcinoma thyroid gland disease thyroid gland follicular carcinoma thyroid gland medullary carcinoma thyroid gland papillary carcinoma thyroiditis thyrotoxicosis tongue squamous cell carcinoma toxoplasmosis transient cerebral ischemia trilateral retinoblastoma tuberculoid leprosy tuberculosis tuberculous pneumothorax tuberous sclerosis 1 tuberous sclerosis tubular adenocarcinoma type 1 diabetes mellitus 10 type 1 diabetes mellitus 11 type 1 diabetes mellitus 12 type 1 diabetes mellitus 13 type 1 diabetes mellitus 15 type 1 diabetes mellitus 17 type 1 diabetes mellitus 18 type 1 diabetes mellitus 19 type 1 diabetes mellitus 20 type 1 diabetes mellitus 21 type 1 diabetes mellitus 22 type 1 diabetes mellitus 23 type 1 diabetes mellitus 24 type 1 diabetes mellitus 2 type 1 diabetes mellitus 3 type 1 diabetes mellitus 4 type 1 diabetes mellitus 5 type 1 diabetes mellitus 6 type 1 diabetes mellitus 7 type 1 diabetes mellitus 8 type 1 diabetes mellitus type 2 diabetes mellitus ulcerative colitis uremia ureteral obstruction urinary bladder cancer urinary tract obstruction urticaria pigmentosa urticaria uveal melanoma uveitis varicose veins vascular dementia vascular disease vasculitis vasomotor rhinitis venous insufficiency vertebrobasilar insufficiency viral infectious disease viral meningitis visual epilepsy vitiligo xeroderma pigmentosum group D xerophthalmia yaws yellow fever
P08962	CD63 antigen	CD63 MLA1 TSPAN30	5	111
P35555	Fibrillin-1	FBN1 FBN	48	112
P01215	Glycoprotein hormones alpha chain	CGA	4	114
P08648	Integrin alpha-5	ITGA5 FNRA	17	115
P12821	Angiotensin-converting enzyme	ACE DCP DCP1	23	115	Alport syndrome 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 Bannayan-Riley-Ruvalcaba syndrome Becker muscular dystrophy Behcet's disease Burkitt lymphoma CAKUT Chagas disease 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 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 Clostridium difficile colitis Cowden syndrome Creutzfeldt-Jakob disease Crohn's colitis Crohn's disease Duchenne muscular dystrophy Gaucher's disease type I Gaucher's disease type II Gaucher's disease type III Gaucher's disease Goodpasture syndrome Graves' disease Grn-related frontotemporal lobar degeneration with Tdp43 inclusions Henoch-Schoenlein purpura Hodgkin's granuloma Hodgkin's lymphoma, lymphocytic depletion Hodgkin's lymphoma, lymphocytic-histiocytic predominance Hodgkin's lymphoma, mixed cellularity Hodgkin's lymphoma Horner's syndrome Huntington's disease-like 1 Huntington's disease-like 2 Huntington's disease IgA glomerulonephritis Kawasaki disease Keshan disease Kuhnt-Junius degeneration Langerhans-cell histiocytosis Leber hereditary optic neuropathy Lewy body dementia Marfan syndrome Meckel syndrome 8 Meckel syndrome Mycoplasma pneumoniae pneumonia Netherton syndrome Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Pick's disease Potter's syndrome Prinzmetal angina Raynaud disease Reye syndrome Richter's syndrome Senior-Loken syndrome Sjogren's syndrome St. Louis encephalitis T-cell acute lymphoblastic leukemia Takayasu's arteritis Werner syndrome Wilson disease X-linked dilated cardiomyopathy Zollinger-Ellison syndrome abdominal aortic aneurysm abdominal obesity-metabolic syndrome 1 ablepharon macrostomia syndrome acne acquired immunodeficiency syndrome acrodermatitis acromegaly actinic keratosis acute biphenotypic leukemia acute chest syndrome acute kidney failure acute leukemia acute monocytic leukemia acute myeloid leukemia acute myocardial infarction acute pancreatitis acute pyelonephritis adenocarcinoma adenoma adrenal gland cancer adrenal gland hyperfunction adrenoleukodystrophy adult fibrosarcoma adult lymphoma adult respiratory distress syndrome age related macular degeneration agenesis of the corpus callosum with peripheral neuropathy agnosia agoraphobia agranulocytosis alcohol dependence alcohol use disorder alcoholic cardiomyopathy alcoholic hepatitis alcoholic liver cirrhosis allergic asthma allergic contact dermatitis allergic rhinitis alopecia areata alopecia alpha 1-antitrypsin deficiency alternating hemiplegia of childhood amnestic disorder amyloidosis amyotrophic lateral sclerosis anemia angioedema angioma serpiginosum ankylosing spondylitis anterolateral myocardial infarction anteroseptal myocardial infarction anthracosilicosis antisocial personality disorder antithrombin III deficiency anuria anxiety disorder aortic aneurysm aortic atherosclerosis aortic valve disease 1 aortic valve disease 2 aortic valve insufficiency aortic valve stenosis arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arteriovenous malformation arthritis arthropathy asbestosis aseptic meningitis aspiration pneumonia aspiration pneumonitis asthma atherosclerosis atrial fibrillation atrioventricular block atrioventricular septal defect autistic disorder autoimmune disease autoimmune hepatitis autoimmune lymphoproliferative syndrome autonomic neuropathy autosomal dominant Emery-Dreifuss muscular dystrophy 2 autosomal dominant limb-girdle muscular dystrophy type 1 autosomal dominant limb-girdle muscular dystrophy type 1H autosomal dominant limb-girdle muscular dystrophy type 2 autosomal dominant limb-girdle muscular dystrophy type 3 autosomal dominant limb-girdle muscular dystrophy autosomal dominant polycystic kidney disease autosomal recessive congenital ichthyosis 1 autosomal recessive limb-girdle muscular dystrophy type 2A autosomal recessive limb-girdle muscular dystrophy type 2B autosomal recessive limb-girdle muscular dystrophy type 2C autosomal recessive limb-girdle muscular dystrophy type 2D autosomal recessive limb-girdle muscular dystrophy type 2E autosomal recessive limb-girdle muscular dystrophy type 2F autosomal recessive limb-girdle muscular dystrophy type 2G autosomal recessive limb-girdle muscular dystrophy type 2H autosomal recessive limb-girdle muscular dystrophy type 2I autosomal recessive limb-girdle muscular dystrophy type 2J autosomal recessive limb-girdle muscular dystrophy type 2K autosomal recessive limb-girdle muscular dystrophy type 2L autosomal recessive limb-girdle muscular dystrophy type 2M autosomal recessive limb-girdle muscular dystrophy type 2N autosomal recessive limb-girdle muscular dystrophy type 2O autosomal recessive limb-girdle muscular dystrophy type 2P autosomal recessive limb-girdle muscular dystrophy type 2Q autosomal recessive limb-girdle muscular dystrophy type 2S autosomal recessive limb-girdle muscular dystrophy type 2T autosomal recessive limb-girdle muscular dystrophy type 2U autosomal recessive limb-girdle muscular dystrophy type 2Y autosomal recessive limb-girdle muscular dystrophy autosomal recessive polycystic kidney disease background diabetic retinopathy bacterial infectious disease bacterial sepsis basal cell carcinoma berylliosis bestrophinopathy bicuspid aortic valve disease bile duct adenocarcinoma bile duct carcinoma bipolar disorder bone cancer bone disease bone marrow cancer borderline personality disorder brain disease brain infarction brain ischemia brain stem infarction breast cancer breast carcinoma breast fibrocystic disease bronchiolitis obliterans bronchus cancer bronchus carcinoma burning mouth syndrome campomelic dysplasia cancer cannabis abuse cannabis dependence capillary disease capillary hemangioma carcinoma cardiac arrest cardiomyopathy cardiovascular system disease carotid artery disease carotid artery thrombosis carotid stenosis carpal tunnel syndrome cartilage disease cataract 32 multiple types cataract catecholaminergic polymorphic ventricular tachycardia 1 catecholaminergic polymorphic ventricular tachycardia 2 catecholaminergic polymorphic ventricular tachycardia 3 catecholaminergic polymorphic ventricular tachycardia 4 catecholaminergic polymorphic ventricular tachycardia 5 catecholaminergic polymorphic ventricular tachycardia cavernous hemangioma celiac disease central gyrate choroidal dystrophy central nervous system cancer central nervous system disease central nervous system lymphoma cerebral artery occlusion cerebral atherosclerosis cerebral cavernous malformation 1 cerebral degeneration cerebral infarction cerebral malaria cerebrovascular disease cervical adenocarcinoma cervical cancer cervix carcinoma cervix uteri carcinoma in situ childhood leukemia childhood lymphoma childhood type dermatomyositis cholangiocarcinoma cholera cholestasis chondrocalcinosis chorioretinitis choroiditis chromophobe renal cell carcinoma chronic fatigue syndrome chronic kidney disease chronic lymphocytic leukemia chronic myeloid leukemia chronic obstructive pulmonary disease ciliary body disease clear cell renal cell carcinoma colitis collagen disease collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma complement component 2 deficiency complement component 4a deficiency complement component 4b deficiency complement component 6 deficiency complement component 7 deficiency complement component 9 deficiency complement deficiency complex partial epilepsy cone-rod dystrophy congenital central hypoventilation syndrome congenital diaphragmatic hernia congenital heart disease congenital hypothyroidism congenital muscular dystrophy congenital nongoitrous hypothyroidism 4 congestive heart failure connective tissue disease coronary aneurysm coronary artery disease coronary artery vasospasm coronary restenosis coronary stenosis coronary thrombosis craniometaphyseal dysplasia crescentic glomerulonephritis cribriform carcinoma critical illness polyneuropathy cystic fibrosis cystoid macular edema degeneration of macula and posterior pole dementia dental caries dentin caries depressive disorder dermatitis dermatomyositis diabetes mellitus diabetic angiopathy diabetic autonomic neuropathy diabetic cataract diabetic ketoacidosis diabetic neuropathy diabetic polyneuropathy diabetic retinopathy diastolic heart failure diastrophic dysplasia 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 disease of metabolism distal myopathy drug psychosis dry eye syndrome duodenum cancer dyschromatosis symmetrica hereditaria dysgerminoma of ovary dysthymic disorder eclampsia embryoma embryonal cancer encephalitis encephalomyelitis endocarditis endometrial cancer endometrial carcinoma endometriosis of uterus endometriosis endomyocardial fibrosis enterocele epilepsy episodic kinesigenic dyskinesia 1 esophageal cancer esophageal carcinoma esophagitis essential hypertension essential thrombocythemia exudative vitreoretinopathy 1 exudative vitreoretinopathy facioscapulohumeral muscular dystrophy familial combined hyperlipidemia familial hypercholesterolemia familial hyperlipidemia familial hypertrophic cardiomyopathy familial mediterranean fever familial nephrotic syndrome familial periodic paralysis fibromyalgia fibrosarcoma focal segmental glomerulosclerosis 1 focal segmental glomerulosclerosis 2 focal segmental glomerulosclerosis 5 focal segmental glomerulosclerosis 6 focal segmental glomerulosclerosis 7 focal segmental glomerulosclerosis 8 focal segmental glomerulosclerosis 9 focal segmental glomerulosclerosis follicular adenoma frontotemporal dementia fundus albipunctatus gallbladder cancer gallbladder carcinoma gallbladder disease gastric ulcer gastritis gastroenteritis gastroesophageal reflux disease gastrointestinal system cancer gastrointestinal system disease generalized anxiety disorder generalized atherosclerosis germ cell and embryonal cancer germ cell cancer germinoma gestational diabetes giant cell glioblastoma glioblastoma gliosarcoma glomerulonephritis glucose intolerance glycogen storage disease II glycogen storage disease V granular cell carcinoma granular corneal dystrophy 2 granulomatosis with polyangiitis heart cancer heart disease heart valve disease hematologic cancer hemochromatosis hemopericardium hepatitis A hepatitis B hepatitis C hepatitis hepatocellular carcinoma hereditary angioedema hereditary hemorrhagic telangiectasia hereditary neuropathy with liability to pressure palsies hereditary sensory and autonomic neuropathy type 2 hereditary spherocytosis type 1 hereditary spherocytosis hiatus hernia high grade glioma human immunodeficiency virus infectious disease hydronephrosis hyperandrogenism hypercalcemia hyperglycemia hyperhomocysteinemia hyperinsulinism hyperparathyroidism hyperpituitarism hypersensitivity vasculitis hypertension hypertensive heart disease hyperthyroidism hypertrophic cardiomyopathy 1 hypertrophic cardiomyopathy hypoglycemia hypoplastic left heart syndrome hypothyroidism ichthyosis idiopathic interstitial pneumonia idiopathic pulmonary fibrosis idiopathic scoliosis ileitis ileocolitis immune system disease impotence inappropriate ADH syndrome infective endocarditis inflammatory and toxic neuropathy inflammatory bowel disease 1 inflammatory bowel disease inflammatory myofibroblastic tumor intermediate coronary syndrome intermittent claudication intermittent explosive disorder interstitial lung disease interstitial nephritis intestinal disease intracranial aneurysm intracranial arteriosclerosis intrahepatic cholangiocarcinoma intrahepatic cholestasis of pregnancy intrinsic asthma iris disease iron metabolism disease irritable bowel syndrome keratoconjunctivitis sicca keratosis follicularis kidney cancer kidney disease kidney failure kidney hypertrophy kwashiorkor large intestine cancer laryngeal benign neoplasm laryngeal carcinoma larynx cancer left bundle branch hemiblock leiomyoma leukemia leukostasis limb-girdle muscular dystrophy lingual-facial-buccal dyskinesia lipoid nephrosis liver cancer liver cirrhosis liver disease lung benign neoplasm lung cancer lung carcinoma lung disease lung non-small cell carcinoma lung small cell carcinoma lupus erythematosus lupus nephritis lymphangioleiomyomatosis lymphoma lymphopenia macrocytic anemia macular degeneration macular retinal edema major depressive disorder malaria male infertility malignant hypertension marasmus megacystis-microcolon-intestinal hypoperistalsis syndrome melancholic depression melanoma membranous glomerulonephritis meningoencephalitis mevalonic aciduria microcephaly microcystic adenoma microglandular adenosis microinvasive gastric cancer microphthalmia middle cerebral artery infarction migraine with aura migraine without aura migraine mitral valve disease mitral valve insufficiency mitral valve prolapse mitral valve stenosis mixed glioma mixed sleep apnea mongolian spot mood disorder morbid obesity motor peripheral neuropathy multiple endocrine neoplasia type 2A multiple myeloma multiple sclerosis multiple system atrophy muscular dystrophy musculoskeletal system disease myelitis myelodysplastic syndrome myelofibrosis myeloproliferative neoplasm myocardial infarction myocarditis myofibrillar myopathy 1 myofibrillar myopathy 3 myofibroma myopathy myositis myotonic dystrophy type 1 myotonic dystrophy type 2 myxedema narcolepsy nasopharynx carcinoma neovascular inflammatory vitreoretinopathy nephritis nephrocalcinosis nephronophthisis 1 nephronophthisis nephrosclerosis nephrosis nephrotic syndrome type 1 nephrotic syndrome type 2 nephrotic syndrome nervous system disease neurocirculatory asthenia neurodegenerative disease neuromuscular disease neuromyelitis optica neuropathy neurotic disorder neutropenia newborn respiratory distress syndrome nicotine dependence nodular prostate non-Hodgkin lymphoma nonpapillary renal cell carcinoma normal pressure hydrocephalus nutmeg liver nutrition disease nutritional optic neuropathy obesity obsolete Cushing's syndrome obsolete Matthew-Wood syndrome obsolete autosomal dominant limb-girdle muscular dystrophy type 1A obsolete autosomal dominant limb-girdle muscular dystrophy type 1B obsolete autosomal dominant limb-girdle muscular dystrophy type 1C obsolete autosomal recessive limb-girdle muscular dystrophy type 2R obsolete chronobiology disease obsolete congenital ichthyosiform erythroderma obsolete constipation obsolete eye and adnexa disease obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum obsolete major affective disorder 1 obsolete major affective disorder 2 obsolete melancholia obsolete type 1 diabetes mellitus 9 obsolete ymphosarcoma obstructive sleep apnea ocular hypotension oculopharyngeal muscular dystrophy oligohydramnios open-angle glaucoma osteitis fibrosa osteoarthritis osteomalacia osteonecrosis osteoporosis otosclerosis ovarian cancer ovarian carcinoma pancreas disease pancreatic cancer pancreatic carcinoma pancreatic ductal adenocarcinoma pancreatitis panic disorder panuveitis papillary adenocarcinoma papillary adenoma papillary renal cell carcinoma parapsoriasis patent ductus arteriosus pemphigus vulgaris pemphigus peptic esophagitis peptic ulcer disease pericardial effusion perinatal necrotizing enterocolitis periodontal disease periodontitis peripheral artery disease peripheral nervous system disease peripheral vascular disease periventricular leukomalacia personality disorder pheochromocytoma phobic disorder phosphorus metabolism disease placental insufficiency plasmacytoma pneumonia polyarteritis nodosa polycystic kidney disease 1 polycystic kidney disease 4 polycystic ovary syndrome polycythemia vera polycythemia polyneuropathy portal hypertension post-traumatic stress disorder posterior uveitis postinflammatory pulmonary fibrosis postural orthostatic tachycardia syndrome pre-eclampsia prediabetes syndrome premature ejaculation primary biliary cholangitis primary hyperaldosteronism primary hyperparathyroidism primary open angle glaucoma primary ovarian insufficiency primary polycythemia primary pulmonary hypertension progeria progressive muscular atrophy progressive supranuclear palsy proliferative diabetic retinopathy prostate cancer prostate carcinoma prostatic adenoma protein C deficiency protein S deficiency protein-energy malnutrition proteinuria pseudoxanthoma elasticum psoriasis psoriatic arthritis psychologic dyspareunia psychotic disorder pterygium pulmonary edema pulmonary embolism pulmonary emphysema pulmonary fibrosis pulmonary hypertension pulmonary sarcoidosis pulmonary tuberculosis pustulosis of palm and sole pyelitis pyelonephritis pyoureter pyruvate carboxylase deficiency disease pyruvate decarboxylase deficiency rapidly progressive glomerulonephritis rectal benign neoplasm rectum adenocarcinoma rectum cancer red-green color blindness reflex sympathetic dystrophy renal artery disease renal artery obstruction renal carcinoma renal cell carcinoma renal hypertension renal infectious disease renal osteodystrophy renovascular hypertension respiratory syncytial virus infectious disease restrictive cardiomyopathy 1 restrictive cardiomyopathy reticulosarcoma retinal disease retinal vein occlusion retinitis pigmentosa retinitis retinopathy of prematurity rheumatoid arthritis rhinitis rickets rippling muscle disease 2 sarcoidosis sarcomatoid carcinoma sarcomatoid renal cell carcinoma schizophrenia scleritis scleroderma seasonal affective disorder seborrheic keratosis seminoma sensorineural hearing loss severe acute respiratory syndrome severe congenital neutropenia sexual dysfunction sick sinus syndrome sickle cell anemia silent myocardial infarction silicosis situs inversus skin atrophy skin benign neoplasm skin cancer skin disease skin melanoma sleep apnea small intestine cancer somatization disorder somatoform disorder speech-language disorder-1 spondyloarthropathy spondylosis squamous cell carcinoma steatotic liver disease stomach cancer stomach carcinoma subacute bacterial endocarditis subacute sclerosing panencephalitis substance abuse substance-related disorder synovial sarcoma systemic lupus erythematosus systemic scleroderma systolic heart failure telangiectasis temporal lobe epilepsy testicular cancer testicular germ cell cancer testis seminoma tetralogy of Fallot thrombophilia thyroid adenoma thyroid cancer thyroid gland carcinoma thyroid gland follicular carcinoma thyroid gland papillary carcinoma thyrotoxicosis tongue squamous cell carcinoma transient cerebral ischemia trichohepatoenteric syndrome 1 trichohepatoenteric syndrome tropical sprue trypanosomiasis tuberculosis tuberculous pneumothorax tuberous sclerosis tubular adenocarcinoma type 1 diabetes mellitus 10 type 1 diabetes mellitus 11 type 1 diabetes mellitus 12 type 1 diabetes mellitus 13 type 1 diabetes mellitus 15 type 1 diabetes mellitus 17 type 1 diabetes mellitus 18 type 1 diabetes mellitus 19 type 1 diabetes mellitus 20 type 1 diabetes mellitus 21 type 1 diabetes mellitus 22 type 1 diabetes mellitus 23 type 1 diabetes mellitus 24 type 1 diabetes mellitus 2 type 1 diabetes mellitus 3 type 1 diabetes mellitus 4 type 1 diabetes mellitus 5 type 1 diabetes mellitus 6 type 1 diabetes mellitus 7 type 1 diabetes mellitus 8 type 1 diabetes mellitus type 2 diabetes mellitus type I complement component 8 deficiency type II complement component 8 deficiency ulcerative colitis uremia ureteral obstruction urinary system benign neoplasm urinary system cancer urinary tract obstruction urticaria uterine corpus cancer uterine fibroid uveitis uveoparotid fever vascular dementia vascular disease vasculitis vasomotor rhinitis vertebrobasilar insufficiency vesicoureteral reflux viral infectious disease viral meningitis viral pneumonia visual epilepsy vitiligo xerophthalmia
P24043	Laminin subunit alpha-2	LAMA2 LAMM	31	115
Q14112	Nidogen-2	NID2	37	115
P56199	Integrin alpha-1	ITGA1	29	115
O43852	Calumenin	CALU	11	116
P12110	Collagen alpha-2(VI) chain	COL6A2	9	116
P07339	Cathepsin D	CTSD CPSD	11	117
P15586	N-acetylglucosamine-6-sulfatase	GNS	21	118	brain cancer cancer diarrhea epilepsy fundus dystrophy hypertrichosis hypertrophic cardiomyopathy 1 intellectual disability learning disability low tension glaucoma lysosomal storage disease melanoma mucopolysaccharidosis I mucopolysaccharidosis II mucopolysaccharidosis III mucopolysaccharidosis IV mucopolysaccharidosis Ih mucopolysaccharidosis VI mucopolysaccharidosis type IIIA mucopolysaccharidosis type IIIB mucopolysaccharidosis type IIIC mucopolysaccharidosis type IIID mucopolysaccharidosis rheumatoid arthritis sensorineural hearing loss skin melanoma visual epilepsy
P05026	Sodium/potassium-transporting ATPase subunit beta-1	ATP1B1 ATP1B	5	118
P55083	Microfibril-associated glycoprotein 4	MFAP4	3	119
O75882	Attractin	ATRN KIAA0548 MGCA	31	122	3-methylglutaconic aciduria type 3 Barth syndrome allergic asthma anaplastic astrocytoma asthma cancer cardiomyopathy central nervous system cancer childhood cerebral astrocytoma endomyocardial fibrosis fibrillary astrocytoma gemistocytic astrocytoma gliosarcoma high grade glioma hypertrophic cardiomyopathy intrinsic asthma juvenile pilocytic astrocytoma leukodystrophy malignant astrocytoma mixed glioma obesity pilocytic astrocytoma protoplasmic astrocytoma restless legs syndrome skin benign neoplasm skin cancer squamous cell carcinoma subependymal giant cell astrocytoma tongue squamous cell carcinoma
P02675	Fibrinogen beta chain	FGB	6	122
Q13510	Acid ceramidase	ASAH1 ASAH	8	123	Albright's hereditary osteodystrophy Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease Beckwith-Wiedemann syndrome Bell's palsy CLOVES syndrome Erdheim-Chester disease Ewing sarcoma Fabry disease Farber lipogranulomatosis IGSF1 deficiency syndrome Krabbe disease Laron syndrome Lewy body dementia Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Perlman syndrome Pick's disease Reye syndrome Sotos syndrome Turner syndrome Unverricht-Lundborg syndrome Usher syndrome type 2 Usher syndrome type 3 Usher syndrome Wolman disease achondroplasia acute monocytic leukemia acute myeloid leukemia adult medulloblastoma agnosia amyotrophic lateral sclerosis type 1 amyotrophic lateral sclerosis type 2 amyotrophic lateral sclerosis type 4 anterior horn cell disease arthritis arthropathy atrial fibrillation autosomal recessive distal hereditary motor neuronopathy 1 benign ependymoma benign epilepsy with centrotemporal spikes blepharospasm brain cancer breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma cellular ependymoma cerebral degeneration childhood ependymoma childhood medulloblastoma chylomicron retention disease colitis colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma combined saposin deficiency congenital hypothyroidism congenital nongoitrous hypothyroidism 1 congenital nongoitrous hypothyroidism 2 congenital nongoitrous hypothyroidism 3 congenital nongoitrous hypothyroidism 4 congenital nongoitrous hypothyroidism 5 congenital nongoitrous hypothyroidism 6 congenital nystagmus cystic fibrosis dementia dentatorubral-pallidoluysian atrophy developmental coordination disorder dissociated nystagmus early myoclonic encephalopathy embryoma epilepsy facial nerve disease facial paralysis focal hand dystonia gastroenteritis gastrointestinal system cancer giant cell glioblastoma glaucoma glioblastoma gonadal dysgenesis head and neck cancer head and neck squamous cell carcinoma herpes simplex high grade glioma hyperglycemia hypoparathyroidism hypothyroidism idiopathic generalized epilepsy idiopathic interstitial pneumonia ileitis ileocolitis intellectual disability invasive ductal carcinoma large intestine cancer lateral sclerosis learning disability lipid storage disease lung benign neoplasm lung cancer lung carcinoma lysosomal storage disease measles medulloblastoma medullomyoblastoma melanoma melanotic medulloblastoma motor neuron disease myxedema myxopapillary ependymoma neonatal diabetes neurodegenerative disease neuroectodermal tumor obesity ocular melanoma osteoporosis pancreatic cancer pancreatic carcinoma papillary carcinoma papillary ependymoma pathologic nystagmus pneumonia postinflammatory pulmonary fibrosis progressive muscular atrophy progressive myoclonus epilepsy 1A progressive myoclonus epilepsy prostate cancer prostate carcinoma pseudohypoparathyroidism type IB pseudohypoparathyroidism pseudopseudohypoparathyroidism pulmonary fibrosis rectal benign neoplasm rectum adenocarcinoma rectum cancer recurrent corneal erosion retinitis pigmentosa-deafness syndrome retinoblastoma rheumatoid arthritis sarcomatoid carcinoma schizophrenia scoliosis sensorineural hearing loss skin melanoma speech disorder spinal muscular atrophy with progressive myoclonic epilepsy spinal muscular atrophy spontaneous ocular nystagmus tanycytic ependymoma thyroid adenoma thyroid cancer thyroid gland carcinoma transient neonatal diabetes mellitus viral infectious disease
O00468	Agrin	AGRN AGRIN	58	124	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 Bell's palsy Pick's disease Reye syndrome acute myeloid leukemia agnosia cancer central sleep apnea cerebral degeneration congenital myasthenic syndrome 10 congenital myasthenic syndrome 8 congenital myasthenic syndrome congenital nystagmus congenital ptosis critical illness polyneuropathy developmental coordination disorder dissociated nystagmus embryoma epilepsy esophagitis esotropia facial nerve disease facial paralysis fetal akinesia deformation sequence syndrome 1 fetal akinesia deformation sequence syndrome gastroesophageal reflux disease intellectual disability learning disability lung adenocarcinoma lung cancer monocular esotropia obstructive sleep apnea ophthalmoplegia papillary adenocarcinoma papillary renal cell carcinoma pathologic nystagmus peptic esophagitis polyhydramnios polyneuropathy progressive bulbar palsy ptosis scoliosis sensorineural hearing loss spontaneous ocular nystagmus thyroid gland papillary carcinoma visual epilepsy
Q9BXN1	Asporin	ASPN PLAP1 SLRR1C	3	125
Q14314	Fibroleukin	FGL2	7	126
P01854	Immunoglobulin heavy constant epsilon	IGHE	7	126
P01860	Immunoglobulin heavy constant gamma 3	IGHG3	8	127
Q99715	Collagen alpha-1(XII) chain	COL12A1 COL12A1L	31	130

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