GlyCosmos Portal

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UniProt ID	Protein Name	Gene Symbol	No. of Glycosylation Sites	No. of GlyTouCan IDs	Disease Ontology ▼
P19526	Galactoside alpha-(1,2)-fucosyltransferase 1	FUT1 H HSC	2	0	B-cell lymphoma Edwards syndrome Fanconi anemia complementation group A Fanconi anemia complementation group D2 Fanconi anemia Kawasaki disease MHC class II deficiency Scheie syndrome T-cell acute lymphoblastic leukemia Wiskott-Aldrich syndrome X-linked lymphoproliferative syndrome 1 X-linked lymphoproliferative syndrome 2 X-linked severe combined immunodeficiency acquired immunodeficiency syndrome acquired polycythemia acute myeloid leukemia acute promyelocytic leukemia adenosine deaminase deficiency adrenoleukodystrophy alcoholic hepatitis alcoholic liver cirrhosis anemia arthritis arthropathy autoimmune disease autoimmune lymphoproliferative syndrome azoospermia beta thalassemia bile duct adenocarcinoma bile duct carcinoma bone marrow cancer breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma catecholaminergic polymorphic ventricular tachycardia 1 catecholaminergic polymorphic ventricular tachycardia 2 catecholaminergic polymorphic ventricular tachycardia 3 catecholaminergic polymorphic ventricular tachycardia 4 catecholaminergic polymorphic ventricular tachycardia 5 catecholaminergic polymorphic ventricular tachycardia cerebral infarction cerebrovascular disease childhood leukemia cholangiocarcinoma chronic myeloid leukemia colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma combined T cell and B cell immunodeficiency congenital hemolytic anemia cutaneous porphyria cystic fibrosis diarrhea distal arthrogryposis embryoma erythropoietic protoporphyria erythropoietin polycythemia essential thrombocythemia factor VIII deficiency familial erythrocytosis 2 gallbladder disease glycogen storage disease II head and neck squamous cell carcinoma hematologic cancer hematopoietic system disease hemochromatosis type 1 hemochromatosis hemoglobin C disease hemoglobin D disease hemoglobin E disease hemoglobinopathy hemophagocytic lymphohistiocytosis hepatitis C hepatocellular carcinoma human immunodeficiency virus infectious disease immune system disease inherited metabolic disorder intrahepatic cholangiocarcinoma juvenile myelomonocytic leukemia large intestine cancer leukemia liver cancer liver cirrhosis liver disease lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung squamous cell carcinoma lysosomal storage disease macrocytic anemia malignant teratoma mantle cell lymphoma mature teratoma melanoma metachromatic leukodystrophy mucopolysaccharidosis I mucopolysaccharidosis II mucopolysaccharidosis III mucopolysaccharidosis IV mucopolysaccharidosis Ih mucopolysaccharidosis VI mucopolysaccharidosis multiple myeloma myelodysplastic syndrome myeloproliferative neoplasm obsolete ymphosarcoma orofaciodigital syndrome VIII osteoarthritis ovarian cancer ovarian carcinoma pancytopenia paroxysmal nocturnal hemoglobinuria polycythemia vera polycythemia progressive muscular atrophy prostate cancer prostate carcinoma proteinuria psoriatic arthritis sarcomatoid carcinoma severe combined immunodeficiency sickle cell anemia skin benign neoplasm skin cancer skin melanoma skin squamous cell carcinoma spinal muscular atrophy squamous cell carcinoma stomach cancer stomach carcinoma stress polycythemia teratocarcinoma teratoma tongue squamous cell carcinoma
P34897	Serine hydroxymethyltransferase, mitochondrial	SHMT2	0	1	B-cell lymphoma Down syndrome Langerhans-cell histiocytosis Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease anemia arthritis arthropathy autistic disorder breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer central nervous system cancer cholangiocarcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma embryoma esophageal cancer esophageal carcinoma esophagus squamous cell carcinoma gastrointestinal system cancer gliosarcoma head and neck squamous cell carcinoma hepatitis B hepatocellular carcinoma high grade glioma idiopathic interstitial pneumonia idiopathic pulmonary fibrosis intrahepatic cholangiocarcinoma large intestine cancer liver cancer liver carcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lymphoma macrocytic anemia mixed glioma neuroblastoma non-Hodgkin lymphoma obsolete ymphosarcoma osteoarthritis prostate cancer prostate carcinoma reticulosarcoma stomach cancer stomach carcinoma
Q8IUN9	C-type lectin domain family 10 member A	CLEC10A CLECSF13 CLECSF14 HML	3	1	B-cell lymphoma Crohn's colitis Crohn's disease Ebola hemorrhagic fever acquired immunodeficiency syndrome acrodermatitis adenosquamous carcinoma adult lymphoma allergic asthma amyotrophic lateral sclerosis type 1 amyotrophic lateral sclerosis type 2 amyotrophic lateral sclerosis type 4 amyotrophic lateral sclerosis anterior horn cell disease asthma atopic dermatitis autosomal recessive distal hereditary motor neuronopathy 1 bipolar disorder breast cancer breast carcinoma cancer celiac disease central nervous system lymphoma centronuclear myopathy cervical adenocarcinoma cervical cancer cervix carcinoma childhood lymphoma cholesteatoma cholinergic urticaria congenital structural myopathy coronary artery disease dermatitis embryoma embryonal cancer germ cell and embryonal cancer germ cell cancer germinoma hepatocellular carcinoma human immunodeficiency virus infectious disease hypereosinophilic syndrome inflammatory bowel disease 1 inflammatory bowel disease influenza intrinsic asthma lateral sclerosis liver cancer lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lymphoma melanoma motor neuron disease neurodegenerative disease obsolete malignant histiocytosis obsolete ymphosarcoma ovarian cancer ovarian carcinoma peripheral T-cell lymphoma polyp of middle ear progressive muscular atrophy prostate cancer prostate carcinoma rheumatoid arthritis schizophrenia skin melanoma squamous cell carcinoma teratocarcinoma tongue squamous cell carcinoma transient myeloproliferative syndrome tubular aggregate myopathy 1 ulcerative colitis viral infectious disease
O00763	Acetyl-CoA carboxylase 2	ACACB ACC2 ACCB	1	1	B-cell lymphoma Clostridium difficile colitis Clouston syndrome abdominal obesity-metabolic syndrome 1 acute chest syndrome acute myocardial infarction adenoid cystic carcinoma arteriosclerotic cardiovascular disease atherosclerosis cancer carcinoma colorectal cancer colorectal carcinoma coronary artery disease coronary thrombosis depressive disorder diabetes mellitus diabetic ketoacidosis embryoma giant cell glioblastoma glioblastoma glomerulonephritis head and neck squamous cell carcinoma high grade glioma hypopharynx cancer kidney disease large intestine cancer major depressive disorder morbid obesity myocardial infarction nephritis nephrosis neurotic disorder nutmeg liver obesity obsolete ymphosarcoma pancreatic ductal adenocarcinoma perinatal necrotizing enterocolitis pyoureter salivary gland adenoid cystic carcinoma salivary gland cancer sarcomatoid carcinoma silent myocardial infarction steatotic liver disease type 2 diabetes mellitus viral infectious disease
Q04446	1,4-alpha-glucan-branching enzyme	GBE1	0	1	B-cell lymphoma Cauda equina syndrome Fabry disease Gerstmann-Straussler-Scheinker syndrome Gorham's disease Guillain-Barre syndrome Noonan syndrome 1 acute myeloid leukemia bronchus cancer bronchus carcinoma cancer cardiomyopathy carnitine palmitoyltransferase II deficiency cerebral infarction cerebrovascular disease chronic inflammatory demyelinating polyneuritis chronic inflammatory demyelinating polyradiculoneuropathy chronic ulcer of skin chylomicron retention disease congenital merosin-deficient muscular dystrophy 1A congenital muscular dystrophy 1B congenital muscular dystrophy due to LMNA mutation congenital muscular dystrophy due to integrin alpha-7 deficiency congenital myopathy 1A congestive heart failure contractures, pterygia, and spondylocarpotarsal fusion syndrome cystinuria cytochrome-c oxidase deficiency disease dementia diabetes mellitus diabetic ketoacidosis dilated cardiomyopathy 1A dilated cardiomyopathy disease of metabolism embryoma endomyocardial fibrosis esophagus squamous cell carcinoma familial lipoprotein lipase deficiency familial periodic paralysis fetal akinesia deformation sequence syndrome 1 fetal akinesia deformation sequence syndrome galactosemia gallbladder disease glucosephosphate dehydrogenase deficiency glycogen storage disease II glycogen storage disease III 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 VI glycogen storage disease VII glycogen storage disease hypertrophic cardiomyopathy idiopathic scoliosis intellectual disability learning disability leukodystrophy lipid storage disease liver disease locked-in syndrome lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma megaconial type congenital muscular dystrophy melanoma mitochondrial metabolism disease mitochondrial myopathy mitochondrial trifunctional protein deficiency multiple sclerosis muscular dystrophy-dystroglycanopathy type B1 muscular dystrophy-dystroglycanopathy type B5 muscular dystrophy-dystroglycanopathy type B6 myopathy nemaline myopathy neurogenic bladder obsolete ymphosarcoma ovarian cancer ovarian carcinoma paraplegia polyhydramnios porphyria portal hypertension quadriplegia rigid spine muscular dystrophy 1 skin melanoma
Q9BT22	Chitobiosyldiphosphodolichol beta-mannosyltransferase	ALG1 HMAT1 HMT1	0	1	B-cell lymphoma Cauda equina syndrome Creutzfeldt-Jakob disease Graves' disease Hodgkin's granuloma Hodgkin's lymphoma, lymphocytic depletion Hodgkin's lymphoma, lymphocytic-histiocytic predominance Hodgkin's lymphoma, mixed cellularity Hodgkin's lymphoma Walker-Warburg syndrome amyotrophic lateral sclerosis type 1 breast cancer breast carcinoma breast fibroadenoma bronchus cancer bronchus carcinoma cancer cardiomyopathy cerebral degeneration cerebral infarction cerebrovascular disease colon cancer colonic benign neoplasm congenital disorder of glycosylation Ik congenital disorder of glycosylation type I congenital disorder of glycosylation congenital muscular dystrophy-dystroglycanopathy type A1 diabetes mellitus endomyocardial fibrosis enophthalmos epilepsy familial hypertrophic cardiomyopathy familial nephrotic syndrome focal epilepsy glomerulonephritis goiter hepatocellular carcinoma hyperthyroidism hypertrophic cardiomyopathy hypogonadism kidney disease laryngeal benign neoplasm laryngeal carcinoma laryngeal squamous cell carcinoma larynx cancer liver cancer lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lupus nephritis lymphoma malignant pleural mesothelioma microcephaly nephritis nephrosis nephrotic syndrome type 1 nephrotic syndrome neurogenic bladder nodular goiter obsolete exophthalmos obsolete ymphosarcoma orbital disease partial motor epilepsy placental insufficiency pyoureter reticulosarcoma schizophrenia scoliosis systemic lupus erythematosus thyroid gland disease thyrotoxicosis type 2 diabetes mellitus urinary tract obstruction visual epilepsy
P52789	Hexokinase-2	HK2	2	1	B-cell lymphoma Burkitt lymphoma Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Zollinger-Ellison syndrome actinic keratosis acute myeloid leukemia acute myocardial infarction adult medulloblastoma alcoholic hepatitis alcoholic liver cirrhosis amyotrophic lateral sclerosis type 1 amyotrophic lateral sclerosis type 2 amyotrophic lateral sclerosis type 4 anterior horn cell disease arthritis arthropathy autosomal recessive distal hereditary motor neuronopathy 1 bile duct adenocarcinoma bile duct cancer bile duct carcinoma bone osteosarcoma brain cancer breast adenocarcinoma breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma cardiac arrest central nervous system cancer central nervous system lymphoma cerebral infarction cerebrovascular disease cervical adenocarcinoma cervical cancer cervix carcinoma childhood leukemia childhood medulloblastoma childhood osteosarcoma cholangiocarcinoma chromophobe renal cell carcinoma chronic myeloid leukemia clear cell renal cell carcinoma collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma cone-rod dystrophy congestive heart failure coronary artery disease coronary thrombosis cryptococcosis diabetes mellitus diabetic cataract diabetic ketoacidosis diabetic retinopathy diffuse large B-cell lymphoma distal arthrogryposis early infantile epileptic encephalopathy embryoma endometrial adenocarcinoma epithelioid sarcoma esophagus squamous cell carcinoma extrahepatic bile duct carcinoma fundus albipunctatus gallbladder cancer gallbladder carcinoma gastrointestinal system cancer giant cell glioblastoma glioblastoma gliosarcoma glucose intolerance head and neck cancer head and neck squamous cell carcinoma hepatitis B hepatitis C hepatocellular carcinoma high grade glioma hyperglycemia hyperinsulinism idiopathic interstitial pneumonia idiopathic pulmonary fibrosis intrahepatic cholangiocarcinoma inverted follicular keratosis keratoacanthoma large intestine cancer laryngeal benign neoplasm laryngeal carcinoma laryngeal squamous cell carcinoma larynx cancer lateral sclerosis leukemia liver cancer liver carcinoma liver cirrhosis low tension glaucoma lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lung squamous cell carcinoma lymphoma medulloblastoma medullomyoblastoma melanoacanthoma melanotic medulloblastoma microphthalmia middle cerebral artery infarction mixed glioma motor neuron disease multiple myeloma myocardial infarction neuroblastoma neurodegenerative disease nonpapillary renal cell carcinoma obesity obsolete Matthew-Wood syndrome obsolete Opitz-GBBB syndrome obsolete type 1 diabetes mellitus 9 obsolete ymphosarcoma osteoarthritis osteosarcoma ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma papillary adenocarcinoma papillary renal cell carcinoma prediabetes syndrome primary open angle glaucoma prostate cancer prostate carcinoma renal carcinoma renal cell carcinoma retinitis pigmentosa rheumatoid arthritis sarcoma sarcomatoid carcinoma sarcomatoid renal cell carcinoma schizophrenia seborrheic keratosis silent myocardial infarction skin disease spindle cell sarcoma squamous cell carcinoma stomach cancer stomach carcinoma thyroid gland anaplastic carcinoma thyroid gland medullary carcinoma thyroid gland papillary carcinoma tongue squamous cell 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 uveal melanoma viral infectious disease
O00187	Mannan-binding lectin serine protease 2	MASP2	1	1	B-cell lymphoma Burkitt lymphoma Chagas disease Crohn's colitis Crohn's disease Grn-related frontotemporal lobar degeneration with Tdp43 inclusions Kuhnt-Junius degeneration Langerhans-cell histiocytosis Stevens-Johnson syndrome Streptococcus pneumonia angioedema autoimmune disease autoimmune lymphoproliferative syndrome bacterial sepsis cancer cardiac arrest cardiomyopathy cerebral infarction cerebrovascular disease cervical adenocarcinoma cervical cancer cervix carcinoma cervix uteri carcinoma in situ chronic fatigue syndrome 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 cystic fibrosis diabetes mellitus diabetic ketoacidosis diffuse large B-cell lymphoma embryoma encephalomyelitis endomyocardial fibrosis erythema multiforme esophagus squamous cell carcinoma follicular lymphoma frontotemporal dementia glomerulonephritis hepatitis C hepatocellular carcinoma hereditary angioedema hypersensitivity reaction type III disease hypertrophic cardiomyopathy immune system disease inflammatory bowel disease 1 inflammatory bowel disease kidney disease large intestine cancer lepromatous leprosy leprosy liver cancer lymphoma malaria multiple sclerosis nephritis nephrosis non-Hodgkin lymphoma obsolete type 1 diabetes mellitus 9 obsolete ymphosarcoma ovarian cancer ovarian carcinoma parapsoriasis pneumonia psoriasis pustulosis of palm and sole pyoureter reticulosarcoma rheumatic fever rheumatoid arthritis sarcoidosis severe acute respiratory syndrome sporotrichosis systemic lupus erythematosus trypanosomiasis tuberculosis type 1 diabetes mellitus 10 type 1 diabetes mellitus 11 type 1 diabetes mellitus 12 type 1 diabetes mellitus 13 type 1 diabetes mellitus 15 type 1 diabetes mellitus 17 type 1 diabetes mellitus 18 type 1 diabetes mellitus 19 type 1 diabetes mellitus 20 type 1 diabetes mellitus 21 type 1 diabetes mellitus 22 type 1 diabetes mellitus 23 type 1 diabetes mellitus 24 type 1 diabetes mellitus 2 type 1 diabetes mellitus 3 type 1 diabetes mellitus 4 type 1 diabetes mellitus 5 type 1 diabetes mellitus 6 type 1 diabetes mellitus 7 type 1 diabetes mellitus 8 type 1 diabetes mellitus type 2 diabetes mellitus type I complement component 8 deficiency type II complement component 8 deficiency ulcerative colitis urinary schistosomiasis viral infectious disease
P06734	Low affinity immunoglobulin epsilon Fc receptor	FCER2 CD23A CLEC4J FCE2 IGEBF	3	1	B-cell lymphoma Burkitt lymphoma CD40 ligand deficiency Graves' disease Hodgkin's granuloma Hodgkin's lymphoma, lymphocytic depletion Hodgkin's lymphoma, lymphocytic-histiocytic predominance Hodgkin's lymphoma, mixed cellularity Hodgkin's lymphoma Kawasaki disease Langerhans cell sarcoma Niemann-Pick disease type C1 Niemann-Pick disease Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Richter's syndrome T-cell acute lymphoblastic leukemia T-cell adult acute lymphocytic leukemia Wiskott-Aldrich syndrome X-linked agammaglobulinemia X-linked hyper IgM syndrome acquired immunodeficiency syndrome acute myeloid leukemia adult lymphoma agammaglobulinemia aggressive systemic mastocytosis allergic asthma asthma atopic dermatitis atypical chronic myeloid leukemia, BCR-ABL1 negative autoimmune lymphoproliferative syndrome type 2A autoimmune lymphoproliferative syndrome type 2B autoimmune lymphoproliferative syndrome type 3 autoimmune lymphoproliferative syndrome autosomal recessive congenital ichthyosis 4B cancer central nervous system lymphoma childhood T-cell acute lymphoblastic leukemia childhood leukemia childhood lymphoma chronic eosinophilic leukemia chronic lymphocytic leukemia/small lymphocytic lymphoma chronic lymphocytic leukemia chronic monocytic leukemia clonorchiasis congenital hypogammaglobulinemia dermatitis diabetic ketoacidosis encephalitis encephalomyelitis enterobiasis extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue follicular dendritic cell sarcoma follicular lymphoma food allergy gastric lymphoma gastritis human immunodeficiency virus infectious disease hyper IgM syndrome hyperthyroidism immunodeficiency with hyper IgM type 3 indolent systemic mastocytosis inflammatory bowel disease interdigitating dendritic cell sarcoma interstitial lung disease intestinal schistosomiasis intrinsic asthma leukemia lymphoid leukemia lymphoma lymphoplasmacytic lymphoma lymphoproliferative syndrome 1 lymphoproliferative syndrome 2 macroglobulinemia mantle cell lymphoma mastocytosis mediastinal gray zone lymphoma multiple myeloma myelitis myeloid leukemia nasopharynx carcinoma obsolete congenital ichthyosiform erythroderma obsolete lymphoplasmacytic lymphoma obsolete type 1 diabetes mellitus 9 obsolete ymphosarcoma papillary adenocarcinoma papillary renal cell carcinoma parasitic helminthiasis infectious disease primary mediastinal B-cell lymphoma primary polycythemia prolymphocytic leukemia rheumatoid arthritis schistosomiasis severe acute respiratory syndrome squamous cell carcinoma systemic Epstein-Barr virus positive T-cell lymphoma of childhood systemic mastocytosis thyroid gland papillary carcinoma thyrotoxicosis tongue squamous cell carcinoma trichinosis 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
P19835	Bile salt-activated lipase	CEL BAL	12	44	B-cell lymphoma Bloch-Sulzberger syndrome Goodpasture syndrome Loeffler syndrome Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Takayasu's arteritis Wolman disease X-linked chronic granulomatous disease acute lymphoblastic leukemia acute monocytic leukemia acute myeloid leukemia acute pancreatitis adamantinous craniopharyngioma adenocarcinoma adenoma adiposis dolorosa adult acute lymphocytic leukemia adult lymphoma adult respiratory distress syndrome aggressive systemic mastocytosis agranulocytosis alcoholic liver cirrhosis alcoholic pancreatitis allergic asthma arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease asthma ataxic cerebral palsy atherosclerosis autoimmune lymphoproliferative syndrome type 2A autoimmune lymphoproliferative syndrome type 2B autoimmune lymphoproliferative syndrome type 3 autoimmune lymphoproliferative syndrome bacterial infectious disease bone marrow cancer brain disease breast cancer breast carcinoma bronchiectasis cancer central nervous system lymphoma childhood acute lymphocytic leukemia childhood lymphoma chronic eosinophilic leukemia chronic granulomatous disease chronic neutrophilic leukemia chronic obstructive pulmonary disease complement deficiency coronary artery disease craniopharyngioma cribriform carcinoma cutaneous porphyria cystic fibrosis cystic kidney disease diabetes mellitus diabetic ketoacidosis embryoma eosinophilic pneumonia epithelioid sarcoma erythropoietic protoporphyria exocrine pancreatic insufficiency extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue extrinsic allergic alveolitis familial hyperinsulinemic hypoglycemia 1 familial hyperinsulinemic hypoglycemia 2 familial hyperlipidemia farmer's lung gastric lymphoma giardiasis glomerulonephritis granular cell carcinoma granulomatosis with polyangiitis hematologic cancer hepatitis C hepatitis hepatocellular carcinoma histoplasmosis hypereosinophilic syndrome hyperglycemia hyperinsulinemic hypoglycemia hypomelanosis of Ito idiopathic interstitial pneumonia idiopathic pulmonary fibrosis indolent systemic mastocytosis influenza interstitial lung disease intrinsic asthma kidney disease kwashiorkor leukopenia lipid storage disease lipomatosis liver cancer lung disease lymphoma lymphoproliferative syndrome 1 lymphoproliferative syndrome 2 lysosomal acid lipase deficiency malaria marasmus mastocytosis maturity-onset diabetes of the young type 8 maturity-onset diabetes of the young microphthalmia multiple symmetric lipomatosis myeloproliferative neoplasm nasopharynx carcinoma nephritis nephrosis neurofibromatosis 1 neurofibromatosis neutropenia newborn respiratory distress syndrome non-congenital cyst of kidney nutmeg liver nutrition disease obesity obsolete Matthew-Wood syndrome obsolete multiple symmetrical lipomatosis obsolete ymphosarcoma pancreas disease pancreatic cancer pancreatic carcinoma pancreatic ductal adenocarcinoma pancreatitis papillary craniopharyngioma placental insufficiency plasmacytoma pneumocystosis pneumonia polyarteritis nodosa polycythemia vera polycythemia postinflammatory pulmonary fibrosis primary ciliary dyskinesia 1 primary ciliary dyskinesia protein-energy malnutrition pulmonary alveolar proteinosis pulmonary eosinophilia pulmonary fibrosis pulmonary sarcoidosis pulmonary tuberculosis pyoureter red-green color blindness retinal disease retinitis sarcoidosis sarcoma scleroderma severe congenital neutropenia spindle cell sarcoma steatotic liver disease substance abuse substance-related disorder systemic Epstein-Barr virus positive T-cell lymphoma of childhood systemic mastocytosis systemic scleroderma tuberculosis tuberculous pneumothorax tubular adenocarcinoma type 2 diabetes mellitus uveoparotid fever
Q9NZN1	Interleukin-1 receptor accessory protein-like 1	IL1RAPL1 OPHN4	6	0	B-cell lymphoma Bell's palsy Coffin-Lowry syndrome Klinefelter syndrome Marfan syndrome Meckel's diverticulum Patau syndrome X-linked adrenal hypoplasia congenita allergic asthma asthma attention deficit hyperactivity disorder autism spectrum disorder autistic disorder autoimmune disease autoimmune lymphoproliferative syndrome brain cancer breast cancer breast carcinoma cancer cardiovascular system disease chromosome Xp21 deletion syndrome clubfoot diffuse large B-cell lymphoma embryoma facial nerve disease facial paralysis heart disease hepatocellular carcinoma immune system disease intellectual disability intrinsic asthma learning disability liver cancer melanoma non-syndromic X-linked intellectual disability obesity obsolete ymphosarcoma placental insufficiency pyloric stenosis rheumatoid arthritis situs inversus skin melanoma syndromic X-linked intellectual disability 94 tuberous sclerosis visual epilepsy vitiligo
P14151	L-selectin	SELL LNHR LYAM1	6	52	B-cell lymphoma Behcet's disease Burkitt lymphoma Clostridium difficile colitis Crohn's colitis Crohn's disease Graves' 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 Langerhans-cell histiocytosis Richter's syndrome Sezary's disease St. Louis encephalitis T-cell acute lymphoblastic leukemia abdominal aortic aneurysm acquired immunodeficiency syndrome acute chest syndrome acute myeloid leukemia acute myocardial infarction acute pancreatitis adenoma adult T-cell leukemia/lymphoma adult-onset Still's disease age related macular degeneration allergic asthma anthracosilicosis arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy asbestosis asthma atherosclerosis autoimmune disease autoimmune lymphoproliferative syndrome bacterial sepsis bladder carcinoma brain cancer brucellosis bullous pemphigoid cancer celiac disease cerebral infarction cerebrovascular disease childhood leukemia chronic kidney disease chronic lymphocytic leukemia chronic myeloid leukemia chronic obstructive pulmonary disease colitis colon cancer colon carcinoma colonic benign neoplasm colorectal cancer coronary artery disease coronary thrombosis degeneration of macula and posterior pole diabetes mellitus diabetic angiopathy diabetic cataract diabetic ketoacidosis diabetic retinopathy diffuse large B-cell lymphoma disseminated intravascular coagulation duodenal ulcer embryoma endometriosis of uterus endometriosis enthesopathy epidermolysis bullosa acquisita essential hypertension extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue fibromyalgia follicular adenoma gastric lymphoma gastritis gastroenteritis glomerulonephritis head and neck squamous cell carcinoma hemochromatosis type 1 hemochromatosis hepatocellular carcinoma human immunodeficiency virus infectious disease hypereosinophilic syndrome hypertension hyperthyroidism ileitis ileocolitis immune system disease inflammatory bowel disease 1 inflammatory bowel disease influenza intrinsic asthma ischemia keratosis follicularis kidney disease kidney failure large intestine cancer leishmaniasis leukemia leukopenia liver cancer lymphangioleiomyomatosis lymphocytic choriomeningitis lymphoma macular degeneration melanoma melioidosis microcystic adenoma migraine mongolian spot multiple myeloma mycosis fungoides myocardial infarction nephritis nephrosis neuroendocrine carcinoma non-Hodgkin lymphoma nutmeg liver obsolete T-cell lymphoblastic leukemia/lymphoma obsolete type 1 diabetes mellitus 9 obsolete ymphosarcoma pancreatic adenocarcinoma pancreatitis papillary adenocarcinoma papillary adenoma papillary renal cell carcinoma paroxysmal nocturnal hemoglobinuria perinatal necrotizing enterocolitis periodontal disease periodontitis peripheral vascular disease pneumonia pre-eclampsia primary cutaneous T-cell non-Hodgkin lymphoma pseudoxanthoma elasticum psoriatic arthritis pulmonary tuberculosis purpura fulminans pyoureter reticulosarcoma rheumatoid arthritis schizophrenia scleroderma sickle cell anemia silent myocardial infarction silicosis skin melanoma steatotic liver disease stomach cancer systemic lupus erythematosus systemic scleroderma thyroid gland papillary carcinoma thyroiditis thyrotoxicosis toxic shock syndrome transient cerebral ischemia tropical spastic paraparesis tuberculosis tuberculous pneumothorax 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 urinary bladder cancer vascular disease vertebrobasilar insufficiency visceral leishmaniasis
Q13126	S-methyl-5'-thioadenosine phosphorylase	MTAP MSAP	0	1	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 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 coronary artery disease coronary thrombosis cribriform carcinoma cutaneous 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
Q8IVS2	Malonyl-CoA-acyl carrier protein transacylase, mitochondrial	MCAT MT	0	1	B-cell lymphoma Barrett's esophagus Burkitt lymphoma Langerhans-cell histiocytosis Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Richter's syndrome abdominal aortic aneurysm abdominal obesity-metabolic syndrome 1 actinic keratosis acute myeloid leukemia adenocarcinoma adenoma adult lymphoma benign mastocytoma bladder carcinoma bone osteosarcoma borderline personality disorder brain disease breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma cardiomyopathy central nervous system lymphoma cervical adenocarcinoma cervical cancer cervix carcinoma childhood lymphoma childhood osteosarcoma choriocarcinoma chromophobe renal cell carcinoma chronic lymphocytic leukemia clear cell renal cell carcinoma collecting duct carcinoma colorectal cancer colorectal carcinoma congestive heart failure cribriform carcinoma depressive disorder diabetes mellitus diffuse large B-cell lymphoma distal arthrogryposis dysthymic disorder embryoma endomyocardial fibrosis epilepsy esophagus adenocarcinoma esophagus squamous cell carcinoma essential hypertension extracutaneous mastocytoma exudative vitreoretinopathy 1 exudative vitreoretinopathy familial hyperinsulinemic hypoglycemia 1 familial hyperinsulinemic hypoglycemia 2 familial medullary thyroid carcinoma follicular lymphoma gastrointestinal stromal tumor gestational diabetes giant cell glioblastoma glioblastoma granular cell carcinoma hepatocellular carcinoma high grade glioma hyperglycemia hyperinsulinemic hypoglycemia hypertension hypertrophic cardiomyopathy idiopathic generalized epilepsy inflammatory bowel disease insulinoma intermittent explosive disorder invasive ductal carcinoma large intestine cancer liver cancer lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lymphoma major depressive disorder malaria malignant pleural mesothelioma mast cell neoplasm mastocytosis melancholic depression melanoma microphthalmia multiple endocrine neoplasia type 2A multiple myeloma neuroblastoma neurotic disorder non-Hodgkin lymphoma nonpapillary renal cell carcinoma obesity obsolete Matthew-Wood syndrome obsolete melancholia obsolete ymphosarcoma osteomalacia osteosarcoma ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma papillary adenocarcinoma papillary renal cell carcinoma placenta cancer premenstrual tension primary hyperparathyroidism primary pulmonary hypertension prostate cancer prostate carcinoma renal carcinoma renal cell carcinoma reticulosarcoma retinopathy of prematurity rickets sarcomatoid carcinoma sarcomatoid renal cell carcinoma schizophrenia skin melanoma squamous cell carcinoma steatotic liver disease stomach cancer stomach carcinoma thyroid gland medullary carcinoma thyroid gland papillary carcinoma tongue squamous cell carcinoma tubular adenocarcinoma type 2 diabetes mellitus urinary bladder cancer urticaria pigmentosa visual epilepsy
P07954	Fumarate hydratase, mitochondrial	FH	1	1	B-cell lymphoma Barrett's esophagus Burkitt lymphoma Crohn's colitis Crohn's disease Gilbert syndrome Hirschsprung's disease Langerhans-cell histiocytosis MELAS syndrome Parkinson's disease Richter's syndrome Tangier disease acquired polycythemia actinic keratosis acute lymphoblastic leukemia acute myeloid leukemia acute promyelocytic leukemia adenosarcoma adrenal carcinoma adrenal cortex cancer adrenal gland cancer adrenal gland hyperfunction adrenocortical carcinoma adult acute lymphocytic leukemia adult lymphoma aggressive systemic mastocytosis agranulocytosis aniridia aortic valve disease 2 aortic valve stenosis arthritis arthropathy autism spectrum disorder autistic disorder autoimmune disease autoimmune hepatitis autoimmune lymphoproliferative syndrome type 2A autoimmune lymphoproliferative syndrome type 2B autoimmune lymphoproliferative syndrome type 3 autoimmune lymphoproliferative syndrome bilirubin metabolic disorder bizarre leiomyoma bladder carcinoma blindness brain disease breast cancer cancer carcinoma cataract central nervous system lymphoma cerebral degeneration cerebral malaria childhood acute lymphocytic leukemia childhood kidney cell carcinoma childhood lymphoma cholestasis chromophobe renal cell carcinoma chronic lymphocytic leukemia clear cell renal cell carcinoma collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer congenital adrenal hyperplasia congestive heart failure cutaneous leiomyosarcoma cutaneous leishmaniasis cystic kidney disease duodenum cancer embryoma endometrial cancer endometrial carcinoma epilepsy epithelioid leiomyosarcoma erythropoietin polycythemia familial adenomatous polyposis familial erythrocytosis 2 familial renal papillary carcinoma follicular lymphoma fumarase deficiency glomerulonephritis heart cancer hemangioblastoma hypercalcemia hypertensive retinopathy immune system disease indolent systemic mastocytosis inflammatory bowel disease 1 inflammatory bowel disease kidney cancer kidney disease kwashiorkor lactic acidosis large intestine cancer late onset Parkinson's disease leiomyoma cutis leiomyoma leiomyomatosis leiomyosarcoma leukopenia lymphoma lymphoproliferative syndrome 1 lymphoproliferative syndrome 2 mantle cell lymphoma marasmus mastocytosis microcephaly microphthalmia mucinous ovarian cystadenoma mucocutaneous leishmaniasis multiple endocrine neoplasia type 2A multiple myeloma multiple sclerosis muscle benign neoplasm muscle cancer myofibroma myxoid leiomyosarcoma nasopharynx carcinoma nephritis nephroblastoma nephrocalcinosis neuroblastoma neuroendocrine carcinoma neurofibromatosis 1 neurofibromatosis neutropenia non-Hodgkin lymphoma non-congenital cyst of kidney nonpapillary renal cell carcinoma nutrition disease obsolete Cushing's syndrome obsolete ymphosarcoma optic atrophy osteoarthritis oxyphilic adenoma pancreatic cancer pancreatic carcinoma panic disorder papillary adenocarcinoma papillary renal cell carcinoma paraganglioma pheochromocytoma phosphorus metabolism disease polycythemia vera polycythemia primary biliary cholangitis primary hyperaldosteronism prostate cancer prostate carcinoma protein-energy malnutrition proteinuria rectal benign neoplasm rectum adenocarcinoma rectum cancer renal carcinoma renal cell carcinoma renal osteodystrophy reticulosarcoma sarcomatoid carcinoma sarcomatoid renal cell carcinoma schizophrenia seborrheic keratosis severe congenital neutropenia sickle cell anemia skin disease small intestine cancer smooth muscle tumor speech disorder status epilepticus stomach cancer stomach carcinoma stress polycythemia systemic Epstein-Barr virus positive T-cell lymphoma of childhood systemic lupus erythematosus systemic mastocytosis testicular cancer thyroid adenoma thyroid cancer thyroid gland carcinoma thyroid gland papillary carcinoma trichohepatoenteric syndrome 1 trichohepatoenteric syndrome ulcerative colitis urinary bladder cancer uterine corpus cancer uterine fibroid uterus leiomyosarcoma vaginal cancer visceral leishmaniasis visual epilepsy
P04798	Cytochrome P450 1A1	CYP1A1	2	1	B-cell lymphoma Barrett's esophagus Behcet's disease Burkitt lymphoma Crohn's colitis Crohn's disease Graves' disease Langerhans-cell histiocytosis Lynch syndrome Mycoplasma pneumoniae pneumonia Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Richter's syndrome Sjogren's syndrome T-cell acute lymphoblastic leukemia acoustic neuroma acquired immunodeficiency syndrome actinic keratosis acute biphenotypic leukemia acute chest syndrome acute leukemia acute lymphoblastic leukemia acute myeloid leukemia acute myocardial infarction acute pancreatitis acute pericementitis adenocarcinoma in situ adenocarcinoma adenoma adult T-cell leukemia/lymphoma adult acute lymphocytic leukemia adult lymphoma adult medulloblastoma adult respiratory distress syndrome aggressive periodontitis alcohol dependence alcoholic hepatitis alcoholic liver cirrhosis allergic asthma allergic contact dermatitis allergic disease ampulla of Vater carcinoma amyotrophic lateral sclerosis angiomatous meningioma ankylosing spondylitis anxiety disorder aortitis aplastic anemia arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease ascariasis ascaridiasis asthma atherosclerosis atopic dermatitis bacterial sepsis bacteriuria basal cell carcinoma benign meningioma benign mesothelioma bile duct adenocarcinoma bile duct cancer bile duct carcinoma bladder carcinoma bladder urothelial carcinoma bone cancer brain cancer brain stem infarction breast adenocarcinoma breast cancer breast carcinoma breast fibroadenoma breast fibrocystic disease bronchus cancer bronchus carcinoma cancer carcinoma cardiomyopathy cardiovascular system disease cataract 32 multiple types central nervous system cancer central nervous system lymphoma cerebral artery occlusion cerebral convexity meningioma cerebral infarction cerebrovascular disease cervical adenocarcinoma cervical cancer cervix carcinoma cervix uteri carcinoma in situ childhood acute lymphocytic leukemia childhood kidney cell carcinoma childhood leukemia childhood lymphoma childhood medulloblastoma cholangiocarcinoma chorioamnionitis chromophobe renal cell carcinoma chronic kidney disease chronic lymphocytic leukemia chronic myeloid leukemia chronic obstructive pulmonary disease clear cell meningioma clear cell renal cell carcinoma collecting duct carcinoma colon adenocarcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma common wart congestive heart failure contact dermatitis coronary artery disease coronary thrombosis cribriform carcinoma depressive disorder diabetes mellitus diabetic ketoacidosis diffuse large B-cell lymphoma echinococcosis embryoma endemic goiter endocrine exophthalmos endometrial cancer endometrial carcinoma endometrial hyperplasia endometriosis of ovary endometriosis of uterus endometriosis endomyocardial fibrosis epilepsy esophageal cancer esophageal carcinoma esophagus adenocarcinoma esophagus squamous cell carcinoma essential hypertension familial hyperlipidemia female breast carcinoma female reproductive system disease fibrous meningioma follicular adenoma gallbladder cancer gallbladder carcinoma gallbladder disease gastric adenocarcinoma gastric cardia carcinoma generalized anxiety disorder gliosarcoma granular cell carcinoma head and neck cancer head and neck squamous cell carcinoma heart disease hemorrhoid hepatitis C hepatitis E hepatoblastoma hepatocellular carcinoma herpes simplex high grade glioma human immunodeficiency virus infectious disease hydronephrosis hyperhomocysteinemia hypertension hyperthyroidism hypertrophic cardiomyopathy hypopharynx cancer hypospadias inflammatory bowel disease 1 inflammatory bowel disease intermittent claudication intrahepatic cholangiocarcinoma intraorbital meningioma intraventricular meningioma intrinsic asthma keratoconjunctivitis sicca kidney cancer large cell carcinoma large intestine cancer laryngeal benign neoplasm laryngeal carcinoma laryngeal disease larynx cancer leiomyoma leukemia leukopenia liver cancer liver cirrhosis liver disease long QT syndrome lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung disease lung non-small cell carcinoma lung oat cell carcinoma lung small cell carcinoma lung squamous cell carcinoma lupus erythematosus lymphoblastic lymphoma lymphoma lymphoplasmacyte-rich meningioma male infertility malignant hypertension malignant mesothelioma malignant pleural mesothelioma mastitis medulloblastoma medullomyoblastoma melanotic medulloblastoma meningioma meningothelial meningioma microcystic adenoma microcystic meningioma microglandular adenosis mixed glioma multiple myeloma myocardial infarction myofibroma nevoid basal cell carcinoma syndrome newborn respiratory distress syndrome nodular prostate non-Hodgkin lymphoma nonpapillary renal cell carcinoma nutmeg liver obesity obsolete ymphosarcoma occupational dermatitis olfactory groove meningioma oral mucosa leukoplakia oral submucous fibrosis osteoporosis ovarian cancer ovarian carcinoma pancreatic adenocarcinoma pancreatic cancer pancreatic carcinoma pancreatitis papillary adenocarcinoma papillary adenoma papillary carcinoma papillary renal cell carcinoma parapsoriasis parasagittal meningioma peptic ulcer disease periodontitis periodontosis peripheral vascular disease pharynx cancer phimosis pituitary adenoma placental insufficiency plasmacytoma pleomorphic carcinoma pneumonia polycystic ovary syndrome polycythemia vera polycythemia porphyria cutanea tarda primary open angle glaucoma primary ovarian insufficiency primary pulmonary hypertension progressive muscular atrophy prostate cancer prostate carcinoma prostatic adenoma psammomatous meningioma psoriasis psoriatic arthritis pterygium pulmonary hypertension pure red-cell aplasia pustulosis of palm and sole reactive arthritis rectal benign neoplasm rectum adenocarcinoma rectum cancer renal carcinoma renal cell carcinoma respiratory failure reticulosarcoma rheumatoid arthritis sarcomatoid carcinoma sarcomatoid renal cell carcinoma scleroderma secretory meningioma seminoma silent myocardial infarction skin carcinoma spinal meningioma sporadic breast cancer squamous cell carcinoma steatotic liver disease stomach cancer stomach carcinoma substernal goiter sudden infant death syndrome systemic lupus erythematosus systemic scleroderma testicular cancer testicular malignant germ cell cancer testis seminoma thrombophilia thyroid adenoma thyroid cancer thyroid gland carcinoma thyroid gland papillary carcinoma thyrotoxicosis tongue squamous cell carcinoma tracheal disease transitional meningioma tuberculosis tubular adenocarcinoma type 2 diabetes mellitus ulcerative colitis urinary bladder cancer uterine corpus cancer uterine fibroid vasculitis visual epilepsy white sponge nevus xeroderma pigmentosum group A
P26718	NKG2-D type II integral membrane protein	KLRK1 D12S2489E NKG2D	3	0	B-cell lymphoma Barrett's esophagus Behcet's disease Burkitt lymphoma Crohn's colitis Crohn's disease Ewing sarcoma Hodgkin's granuloma Hodgkin's lymphoma, lymphocytic depletion Hodgkin's lymphoma, lymphocytic-histiocytic predominance Hodgkin's lymphoma, mixed cellularity Hodgkin's lymphoma Kaposi's sarcoma Kawasaki disease Langerhans-cell histiocytosis Sezary's disease X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia acute leukemia acute lymphoblastic leukemia acute monocytic leukemia acute myeloid leukemia acute myocardial infarction adenocarcinoma adenoma adult lymphoma alopecia alveolar echinococcosis arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease asbestosis ataxia telangiectasia atherosclerosis atypical chronic myeloid leukemia, BCR-ABL1 negative autoimmune disease autoimmune hepatitis autoimmune lymphoproliferative syndrome basal cell carcinoma benign deep fibrous histiocytoma benign mesothelioma bile duct adenocarcinoma bile duct carcinoma bone osteosarcoma breast cancer breast carcinoma bronchiolitis obliterans bronchiolitis bronchus cancer bronchus carcinoma byssinosis cancer carcinoma celiac disease central nervous system cancer cervical adenocarcinoma cervical cancer cervix carcinoma cervix uteri carcinoma in situ childhood acute myeloid leukemia childhood leukemia childhood lymphoma childhood osteosarcoma cholangiocarcinoma chronic fatigue syndrome chronic monocytic leukemia chronic obstructive pulmonary disease colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma congestive heart failure coronary artery disease coronary thrombosis cribriform carcinoma cutaneous fibrous histiocytoma diabetes mellitus diabetic ketoacidosis distal arthrogryposis embryoma encephalitis encephalomyelitis endometriosis of uterus endometriosis epithelioid sarcoma esophagus squamous cell carcinoma familial adenomatous polyposis 1 familial adenomatous polyposis familial hyperlipidemia familial retinoblastoma fibrosarcoma gallbladder disease gastrointestinal system cancer giant cell glioblastoma glioblastoma gliosarcoma granular cell carcinoma hepatitis A hepatitis B hepatitis C hepatitis hepatocellular carcinoma high grade glioma histiocytoma hyperglycemia idiopathic interstitial pneumonia idiopathic pulmonary fibrosis immune system disease inflammatory bowel disease 1 inflammatory bowel disease intrahepatic cholangiocarcinoma islet cell tumor large intestine cancer leukemia leukocyte adhesion deficiency 1 leukocyte adhesion deficiency liver cancer liver carcinoma liver disease lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lupus erythematosus lymphoblastic lymphoma lymphoid leukemia lymphoma malignant mesothelioma melanoma mixed glioma monoclonal gammopathy of uncertain significance monocytic leukemia multiple myeloma multiple sclerosis myelitis myeloid leukemia myocardial infarction myocarditis nasopharynx carcinoma neuroblastoma non-Hodgkin lymphoma obsolete ymphosarcoma osteosarcoma ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma pancytopenia paroxysmal nocturnal hemoglobinuria primary sclerosing cholangitis prolactinoma prostate cancer prostate carcinoma refractory plasma cell neoplasm reticulohistiocytic granuloma reticulosarcoma retinoblastoma rheumatoid arthritis sarcoma sclerosing cholangitis sclerosing hemangioma sebaceous carcinoma silent myocardial infarction skin melanoma spindle cell sarcoma spondyloarthropathy spondylosis squamous cell carcinoma squamous cell neoplasm stomach cancer stomach carcinoma sweat gland cancer systemic lupus erythematosus temporal arteritis thyroid gland anaplastic carcinoma tongue squamous cell carcinoma trilateral retinoblastoma tuberculosis tubular adenocarcinoma type 2 diabetes mellitus ulcerative colitis viral infectious disease
P18827	Syndecan-1	SDC1 SDC	49	8	B-cell lymphoma Bannayan-Riley-Ruvalcaba syndrome Burkitt lymphoma Cowden syndrome Crohn's colitis Crohn's disease Hodgkin's granuloma Hodgkin's lymphoma, lymphocytic depletion Hodgkin's lymphoma, lymphocytic-histiocytic predominance Hodgkin's lymphoma, mixed cellularity Hodgkin's lymphoma, nodular sclerosis Hodgkin's lymphoma IgG4-related disease Kaposi's sarcoma Kawasaki disease POEMS syndrome Richter's syndrome acquired hyperkeratosis acquired immunodeficiency syndrome acrodermatitis actinic keratosis acute myocardial infarction adenocarcinoma adenoid cystic carcinoma adenoma adhesions of uterus adult fibrosarcoma adult liposarcoma adult medulloblastoma allergic contact dermatitis ameloblastoma amyloidosis antithrombin III deficiency aortic valve disease 2 aortic valve stenosis arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy atherosclerosis autoimmune disease autoimmune lymphoproliferative syndrome type 2A autoimmune lymphoproliferative syndrome type 2B autoimmune lymphoproliferative syndrome type 3 autoimmune lymphoproliferative syndrome bacterial infectious disease bacterial sepsis basal cell carcinoma benign mesothelioma benign peritoneal mesothelioma bile duct adenocarcinoma bile duct carcinoma bladder carcinoma bladder urothelial carcinoma blood coagulation disease bone disease bone osteosarcoma breast cancer breast carcinoma breast ductal carcinoma bronchus cancer bronchus carcinoma cancer carcinoma cardiac arrest cartilage disease celiac disease central nervous system cancer central nervous system lymphoma cerebral infarction cerebrovascular disease cervical adenocarcinoma cervical cancer cervix carcinoma childhood liposarcoma childhood medulloblastoma cholangiocarcinoma choriocarcinoma chromophobe renal cell carcinoma chronic fatigue syndrome chronic kidney disease chronic lymphocytic leukemia clear cell adenocarcinoma clear cell renal cell carcinoma colitis collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma common variable immunodeficiency common wart congestive heart failure connective tissue disease coronary artery disease coronary thrombosis craniosynostosis cribriform carcinoma dedifferentiated liposarcoma dermatitis dermoid cyst diabetes mellitus diabetic cataract diabetic retinopathy diffuse large B-cell lymphoma dilated cardiomyopathy 1A dilated cardiomyopathy disseminated intravascular coagulation diverticulitis of colon embryoma encephalitis encephalomyelitis endometrial cancer endometrial carcinoma essential hypertension extramedullary plasmacytoma familial hyperlipidemia familial nephrotic syndrome fibrolamellar carcinoma fibrosarcoma follicular lymphoma gallbladder cancer gallbladder carcinoma gallbladder disease gastroenteritis gastrointestinal system cancer giant cell glioblastoma glioblastoma gliosarcoma glomerulonephritis gonorrhea granular cell carcinoma granular corneal dystrophy 2 hair follicle neoplasm head and neck squamous cell carcinoma heavy chain disease hematologic cancer hepatitis C hepatitis hepatocellular carcinoma high grade glioma human immunodeficiency virus infectious disease hypertension idiopathic interstitial pneumonia idiopathic pulmonary fibrosis ileitis ileocolitis immune system disease immunoglobulin alpha deficiency impotence inclusion body myositis inflammatory bowel disease 1 inflammatory bowel disease inflammatory breast carcinoma influenza interstitial nephritis intrahepatic cholangiocarcinoma invasive ductal carcinoma keratoacanthoma kidney disease kidney failure large intestine cancer leukemia lipoid nephrosis liposarcoma liver cancer liver cirrhosis liver disease lung benign neoplasm lung cancer lung carcinoma lymphoma lymphoproliferative syndrome 1 lymphoproliferative syndrome 2 malaria malignant mesothelioma medulloblastoma medullomyoblastoma melanoma melanotic medulloblastoma mesenchymal cell neoplasm microphthalmia mixed glioma monoclonal gammopathy of uncertain significance monoclonal paraproteinemia multiple myeloma multiple sclerosis myelitis myocardial infarction myoepithelioma nasopharynx carcinoma nephritis nephrosis nephrotic syndrome neuroblastoma neuroendocrine carcinoma neuroendocrine tumor neuromyelitis optica obesity obsolete Matthew-Wood syndrome obsolete constipation obsolete inherited blood coagulation disease obsolete ymphosarcoma optic neuritis osteoarthritis osteosarcoma ovarian cancer ovarian carcinoma pancreatic adenocarcinoma pancreatic cancer pancreatic carcinoma papillary renal cell carcinoma papilloma parapsoriasis peritoneal mesothelioma pilomatrixoma placenta cancer placental insufficiency plasma cell neoplasm plasmacytoma pleomorphic liposarcoma pneumonia polycythemia vera polyp of corpus uteri postinflammatory pulmonary fibrosis pre-eclampsia premature ejaculation primary ciliary dyskinesia 1 primary ciliary dyskinesia primary immunodeficiency disease primary sclerosing cholangitis proliferative diabetic retinopathy prostate cancer prostate carcinoma protein C deficiency protein S deficiency proteinuria psoriasis psychologic dyspareunia pulmonary fibrosis purpura fulminans pustulosis of palm and sole pyelitis pyelonephritis pyoureter refractory plasma cell neoplasm relapsing-remitting multiple sclerosis renal cell carcinoma renal infectious disease renal oncocytoma rheumatoid arthritis salivary gland adenoid cystic carcinoma sarcomatoid carcinoma sarcomatoid renal cell carcinoma scleroderma sclerosing cholangitis sebaceous carcinoma selective IgA deficiency disease silent myocardial infarction skin benign neoplasm skin cancer skin melanoma skin squamous cell carcinoma squamous cell carcinoma squamous cell papilloma stomach cancer stomach carcinoma subacute sclerosing panencephalitis sweat gland cancer systemic Epstein-Barr virus positive T-cell lymphoma of childhood systemic lupus erythematosus systemic scleroderma thrombophilia thyroid adenoma thyroid cancer thyroid gland carcinoma tongue squamous cell carcinoma transitional cell carcinoma tuberculosis tubular adenocarcinoma type 2 diabetes mellitus ulcerative colitis uremia urinary bladder cancer uterine corpus cancer uterus leiomyosarcoma
P22083	Alpha-(1,3)-fucosyltransferase 4	FUT4 ELFT FCT3A	6	3	B-cell adult acute lymphocytic leukemia Barrett's esophagus Burkitt lymphoma Castleman disease Hodgkin's granuloma Hodgkin's lymphoma, lymphocytic depletion Hodgkin's lymphoma, lymphocytic-histiocytic predominance Hodgkin's lymphoma, mixed cellularity Hodgkin's lymphoma Kimura disease Leber congenital amaurosis 1 T-cell acute lymphoblastic leukemia acute biphenotypic leukemia acute leukemia acute lymphoblastic leukemia acute monocytic leukemia acute myeloid leukemia acute myocardial infarction acute promyelocytic leukemia adenocarcinoma adenoma adenosarcoma adult T-cell leukemia/lymphoma adult acute lymphocytic leukemia adult medulloblastoma arthropathy autosomal recessive distal hereditary motor neuronopathy 1 bacterial sepsis benign mesothelioma benign peritoneal mesothelioma beta thalassemia bladder carcinoma bladder urothelial carcinoma bone marrow cancer brain cancer breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma cardiomyopathy celiac disease central nervous system cancer chancroid childhood B-cell acute lymphoblastic leukemia childhood acute lymphocytic leukemia childhood leukemia childhood medulloblastoma chromophobe renal cell carcinoma chronic monocytic leukemia chronic myeloid leukemia chronic myelomonocytic leukemia clear cell adenocarcinoma clear cell renal cell carcinoma collecting duct carcinoma colon adenocarcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma congenital disorder of glycosylation type II congenital disorder of glycosylation type IIc coronary thrombosis cribriform carcinoma cystic fibrosis embryoma embryonal carcinoma endometrial adenocarcinoma endomyocardial fibrosis esophagus squamous cell carcinoma essential thrombocythemia familial adenomatous polyposis 1 familial adenomatous polyposis familial medullary thyroid carcinoma follicular adenoma gastric ulcer gastritis gastrointestinal system cancer giant cell glioblastoma glioblastoma gliosarcoma granular cell carcinoma head and neck squamous cell carcinoma hepatocellular carcinoma high grade glioma hypertrophic cardiomyopathy inflammatory bowel disease 1 inflammatory bowel disease islet cell tumor juvenile myelomonocytic leukemia large intestine cancer laryngeal carcinoma larynx cancer leptospirosis leukemia leukocyte adhesion deficiency 2 leukocyte adhesion deficiency liver cancer lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lymphoblastic lymphoma lymphogranuloma venereum malignant mesothelioma medulloblastoma medullomyoblastoma melanoma melanotic medulloblastoma microcystic adenoma microphthalmia mixed glioma monoclonal gammopathy of uncertain significance multiple endocrine neoplasia type 1 multiple endocrine neoplasia type 2A mycosis fungoides myelodysplastic syndrome myeloproliferative neoplasm myocardial infarction myocarditis necrotizing ulcerative gingivitis nephroblastoma neuromyelitis optica nonpapillary renal cell carcinoma obsolete Matthew-Wood syndrome obsolete T-cell lymphoblastic leukemia/lymphoma obsolete leukocyte-adhesion deficiency syndrome osteoarthritis pancreatic cancer pancreatic carcinoma papillary adenocarcinoma papillary adenoma papillary carcinoma papillary renal cell carcinoma paroxysmal nocturnal hemoglobinuria peptic ulcer disease peritoneal mesothelioma primary mediastinal B-cell lymphoma prostate cancer prostate carcinoma renal carcinoma renal cell carcinoma rheumatoid arthritis sarcomatoid carcinoma sarcomatoid renal cell carcinoma septic arthritis silent myocardial infarction skin melanoma squamous cell carcinoma steatotic liver disease stomach cancer stomach carcinoma teratocarcinoma thrombosis thyroid gland medullary carcinoma thyroid gland papillary carcinoma tongue squamous cell carcinoma tubular adenocarcinoma ulcerative colitis urinary bladder cancer yaws
P20273	B-cell receptor CD22	CD22 SIGLEC2	18	1	B-cell adult acute lymphocytic leukemia B-cell lymphoma Burkitt lymphoma CREST syndrome HCL-V Langerhans-cell histiocytosis Niemann-Pick disease type C1 Niemann-Pick disease Richter's syndrome T-cell acute lymphoblastic leukemia X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia abdominal aortic aneurysm acute biphenotypic leukemia acute leukemia acute lymphoblastic leukemia acute myeloid leukemia adrenal carcinoma adrenal cortex cancer adrenocortical carcinoma adult acute lymphocytic leukemia adult lymphoma arthritis arthropathy arthus reaction autoimmune disease autoimmune lymphoproliferative syndrome type 2A autoimmune lymphoproliferative syndrome type 2B autoimmune lymphoproliferative syndrome type 3 autoimmune lymphoproliferative syndrome bacterial sepsis bone disease breast cancer breast carcinoma bronchus cancer bronchus carcinoma bullous pemphigoid cancer capillary leak syndrome cartilage disease central nervous system lymphoma childhood B-cell acute lymphoblastic leukemia childhood acute lymphocytic leukemia childhood leukemia childhood lymphoma chronic lymphocytic leukemia collagen disease connective tissue disease diffuse large B-cell lymphoma disease of mental health embryoma enthesopathy essential thrombocythemia fibromyalgia giant cell glioblastoma glioblastoma hairy cell leukemia hematologic cancer hemolytic-uremic syndrome hepatic veno-occlusive disease hepatocellular carcinoma high grade glioma hypersensitivity reaction type III disease immune system disease interstitial lung disease leukemia limited scleroderma liver cancer lung benign neoplasm lung cancer lung carcinoma lymphoblastic lymphoma lymphoid leukemia lymphoma lymphoplasmacytic lymphoma lymphoproliferative syndrome 1 lymphoproliferative syndrome 2 macroglobulinemia melanoma multiple myeloma myelodysplastic syndrome myeloid leukemia non-Hodgkin lymphoma obsolete lymphoplasmacytic lymphoma obsolete ymphosarcoma primary cutaneous T-cell non-Hodgkin lymphoma psychotic disorder refractory hairy cell leukemia reticulosarcoma rheumatoid arthritis scleroderma skin melanoma systemic Epstein-Barr virus positive T-cell lymphoma of childhood systemic lupus erythematosus systemic scleroderma vasculitis
Q6Y288	Beta-1,3-glucosyltransferase	B3GLCT B3GALTL B3GTL	3	6	Axenfeld-Rieger syndrome IGSF1 deficiency syndrome Klippel-Feil syndrome Kuhnt-Junius degeneration Meckel syndrome Peters anomaly Peters plus syndrome Tn polyagglutination syndrome age related macular degeneration anemia 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 autism spectrum disorder autistic disorder autosomal dominant polycystic kidney disease blindness cataract cerebral degeneration cleft lip cleft palate coloboma communicating hydrocephalus 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 congenital ptosis cornea plana craniosynostosis cryptorchidism degeneration of macula and posterior pole depressive disorder dissociated nystagmus epilepsy eye disease glaucoma heart septal defect hydrocephalus hydronephrosis hypoplastic left heart syndrome hypospadias hypothyroidism imperforate anus inguinal hernia intellectual disability isolated cleft palate learning disability macrocytic anemia macular degeneration major depressive disorder melancholic depression microcephaly myopia myxedema obsolete melancholia obstructive hydrocephalus omphalocele optic atrophy patent ductus arteriosus patent foramen ovale pathologic nystagmus placental insufficiency polyhydramnios popliteal pterygium syndrome ptosis pulmonary valve stenosis recurrent corneal erosion renal hypoplasia scoliosis senile degeneration of brain sensorineural hearing loss spina bifida occulta spondylolisthesis spontaneous ocular nystagmus syndactyly trichohepatoenteric syndrome 1 trichohepatoenteric syndrome umbilical hernia ventricular septal defect visual epilepsy
O75072	Ribitol-5-phosphate transferase FKTN	FKTN FCMD	1	0	Axenfeld-Rieger syndrome Dandy-Walker syndrome Duchenne muscular dystrophy Fukuyama congenital muscular dystrophy Joubert syndrome Miller-Dieker lissencephaly syndrome Peters anomaly Walker-Warburg syndrome X-linked dilated cardiomyopathy agnosia anaplastic astrocytoma 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 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 bilateral optic nerve hypoplasia blindness breast cancer buphthalmos campomelic dysplasia cancer cardiomyopathy cataract centronuclear myopathy childhood cerebral astrocytoma cleft lip cleft palate coloboma communicating hydrocephalus complex cortical dysplasia with other brain malformations 1 complex cortical dysplasia with other brain malformations 7 congenital generalized lipodystrophy type 1 congenital generalized lipodystrophy type 2 congenital generalized lipodystrophy type 3 congenital generalized lipodystrophy type 4 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 muscular dystrophy-dystroglycanopathy type A1 congenital muscular dystrophy congenital myopathy 1A congenital myopathy 4A congenital structural myopathy congestive heart failure cornea plana cortical dysplasia-focal epilepsy syndrome craniometaphyseal dysplasia craniosynostosis cryptorchidism developmental coordination disorder dextro-looped transposition of the great arteries 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 distal myopathy embryoma endomyocardial fibrosis epilepsy facioscapulohumeral muscular dystrophy familial hypertrophic cardiomyopathy familial periodic paralysis fibrillary astrocytoma fibromyalgia fundus dystrophy gallbladder cancer gallbladder carcinoma gemistocytic astrocytoma glaucoma high grade glioma holoprosencephaly 1 holoprosencephaly hydranencephaly hydrocephalus hydrophthalmos hyperopia hypertrophic cardiomyopathy hypertropia imperforate anus intellectual disability isolated cleft palate isolated elevated serum creatine phosphokinase levels juvenile pilocytic astrocytoma learning disability limb-girdle muscular dystrophy lipoatrophic diabetes mellitus lipodystrophy lissencephaly malignant astrocytoma mechanical strabismus megaconial type congenital muscular dystrophy megalocornea meningocele microcephaly microphthalmia multiple types of congenital heart defects 6 muscular dystrophy-dystroglycanopathy type B1 muscular dystrophy-dystroglycanopathy type B5 muscular dystrophy-dystroglycanopathy type B6 muscular dystrophy myocarditis myofibrillar myopathy 1 myofibrillar myopathy 3 myopathy myopia myositis nemaline myopathy nonepidermolytic palmoplantar keratoderma 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 dextro-looped transposition of the great arteries 1 obstructive hydrocephalus oculopharyngeal muscular dystrophy ophthalmoplegia optic atrophy palmoplantar keratosis patent foramen ovale peripheral retinal degeneration pilocytic astrocytoma placental insufficiency pontocerebellar hypoplasia type 2D pontocerebellar hypoplasia type 7 pontocerebellar hypoplasia type 8 pontocerebellar hypoplasia type 9 protoplasmic astrocytoma pulmonary valve stenosis recurrent corneal erosion renal agenesis retinal detachment rigid spine muscular dystrophy 1 rippling muscle disease 2 scoliosis senile degeneration of brain sensorineural hearing loss septooptic dysplasia short-rib thoracic dysplasia 14 with polydactyly speech disorder stomach cancer stomach carcinoma strabismus subependymal giant cell astrocytoma syndromic X-linked intellectual disability 94 syndromic X-linked intellectual disability Najm type visual epilepsy
Q9Y6A1	Protein O-mannosyl-transferase 1	POMT1	5	8	Axenfeld-Rieger syndrome Bell's palsy Dandy-Walker syndrome Duchenne muscular dystrophy Fukuyama congenital muscular dystrophy Joubert syndrome Marfan syndrome Miller-Dieker lissencephaly syndrome Peters anomaly Walker-Warburg syndrome agnosia 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 bilateral optic nerve hypoplasia blindness brain cancer brain disease buphthalmos campomelic dysplasia cardiomyopathy cataract centronuclear myopathy cleft lip cleft palate clubfoot coloboma communicating hydrocephalus complex cortical dysplasia with other brain malformations 1 complex cortical dysplasia with other brain malformations 7 cone-rod dystrophy 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 muscular dystrophy-dystroglycanopathy type A1 congenital muscular dystrophy congenital myopathy 1A congenital myopathy 4A congenital structural myopathy cornea plana cortical dysplasia-focal epilepsy syndrome craniometaphyseal dysplasia cryptorchidism developmental coordination disorder distal myopathy endomyocardial fibrosis epilepsy facial nerve disease facial paralysis facioscapulohumeral muscular dystrophy familial periodic paralysis fibromyalgia fundus albipunctatus fundus dystrophy glaucoma holoprosencephaly 1 holoprosencephaly hydranencephaly hydrocephalus hydrophthalmos hypertrophic cardiomyopathy hypertropia imperforate anus intellectual disability isolated cleft palate isolated elevated serum creatine phosphokinase levels learning disability limb-girdle muscular dystrophy lissencephaly locked-in syndrome mechanical strabismus megaconial type congenital muscular dystrophy megalocornea meningocele microcephaly microphthalmia muscular dystrophy-dystroglycanopathy type B1 muscular dystrophy-dystroglycanopathy type B5 muscular dystrophy-dystroglycanopathy type B6 muscular dystrophy myofibrillar myopathy 1 myofibrillar myopathy 3 myopathy myopia myositis nemaline myopathy neuromuscular disease obsolete autosomal dominant limb-girdle muscular dystrophy type 1A obsolete autosomal dominant limb-girdle muscular dystrophy type 1B obsolete autosomal dominant limb-girdle muscular dystrophy type 1C obsolete autosomal recessive limb-girdle muscular dystrophy type 2R obstructive hydrocephalus oculopharyngeal muscular dystrophy oligohydramnios ophthalmoplegia optic atrophy peripheral retinal degeneration placental insufficiency pontocerebellar hypoplasia type 2D pontocerebellar hypoplasia type 7 pontocerebellar hypoplasia type 8 pontocerebellar hypoplasia type 9 quadriplegia recurrent corneal erosion renal agenesis retinal detachment retinitis pigmentosa rigid spine muscular dystrophy 1 rippling muscle disease 2 scoliosis senile degeneration of brain sensorineural hearing loss septooptic dysplasia short-rib thoracic dysplasia 14 with polydactyly situs inversus speech disorder strabismus syndromic X-linked intellectual disability 94 syndromic X-linked intellectual disability Najm type tuberous sclerosis visual epilepsy
Q9UKY4	Protein O-mannosyl-transferase 2	POMT2	6	10	Axenfeld-Rieger syndrome Bell's palsy Dandy-Walker syndrome Duchenne muscular dystrophy Fukuyama congenital muscular dystrophy Joubert syndrome Marfan syndrome Miller-Dieker lissencephaly syndrome Peters anomaly Walker-Warburg syndrome X-linked dilated cardiomyopathy agnosia 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 bilateral optic nerve hypoplasia blindness buphthalmos campomelic dysplasia cancer cataract cleft lip cleft palate coloboma communicating hydrocephalus complex cortical dysplasia with other brain malformations 1 complex cortical dysplasia with other brain malformations 7 cone-rod dystrophy congenital muscular dystrophy-dystroglycanopathy type A1 congenital muscular dystrophy-dystroglycanopathy type A2 congenital muscular dystrophy cornea plana cortical dysplasia-focal epilepsy syndrome craniometaphyseal dysplasia cryptorchidism cystic kidney disease developmental coordination disorder 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 distal myopathy embryoma epilepsy facial nerve disease facial paralysis facioscapulohumeral muscular dystrophy familial periodic paralysis fundus albipunctatus glaucoma holoprosencephaly 1 holoprosencephaly hydranencephaly hydrocephalus hydrophthalmos hyperopia hypertropia imperforate anus intellectual disability isolated cleft palate isolated elevated serum creatine phosphokinase levels learning disability limb-girdle muscular dystrophy lissencephaly mechanical strabismus megalocornea meningocele microcephaly microphthalmia muscular dystrophy-dystroglycanopathy type B1 muscular dystrophy myofibrillar myopathy 1 myofibrillar myopathy 3 myopathy myopia 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 obstructive hydrocephalus oculopharyngeal muscular dystrophy ophthalmoplegia optic atrophy peripheral retinal degeneration pontocerebellar hypoplasia type 2D pontocerebellar hypoplasia type 7 pontocerebellar hypoplasia type 8 pontocerebellar hypoplasia type 9 recurrent corneal erosion renal agenesis retinal detachment retinitis pigmentosa rippling muscle disease 2 scoliosis senile degeneration of brain septooptic dysplasia short-rib thoracic dysplasia 14 with polydactyly situs inversus speech disorder strabismus syndromic X-linked intellectual disability 94 syndromic X-linked intellectual disability Najm type tuberous sclerosis visual epilepsy
O95461	Xylosyl- and glucuronyltransferase LARGE1	LARGE1 KIAA0609 LARGE	4	1	Axenfeld-Rieger syndrome Becker muscular dystrophy Bell's palsy Dandy-Walker syndrome Duchenne muscular dystrophy Fukuyama congenital muscular dystrophy Joubert syndrome Laron syndrome Miller-Dieker lissencephaly syndrome Peters anomaly Walker-Warburg syndrome achondroplasia acoustic neuroma agnosia amphetamine abuse angiomatous meningioma atypical chronic myeloid leukemia, BCR-ABL1 negative 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 benign meningioma bilateral optic nerve hypoplasia blindness buphthalmos cancer cataract centronuclear myopathy cerebral convexity meningioma chronic monocytic leukemia clear cell meningioma cleft lip cleft palate coloboma communicating hydrocephalus complex cortical dysplasia with other brain malformations 1 complex cortical dysplasia with other brain malformations 7 cone-rod dystrophy 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 muscular dystrophy-dystroglycanopathy type A1 congenital muscular dystrophy-dystroglycanopathy type A6 congenital muscular dystrophy congenital myopathy 1A congenital myopathy 4A congenital structural myopathy cornea plana cortical dysplasia-focal epilepsy syndrome cryptorchidism depressive disorder developmental coordination disorder diabetes mellitus dissociated nystagmus distal myopathy endomyocardial fibrosis epilepsy facial nerve disease facial paralysis facioscapulohumeral muscular dystrophy 1 facioscapulohumeral muscular dystrophy familial periodic paralysis fibrous meningioma fundus albipunctatus fundus dystrophy glaucoma hepatocellular carcinoma holoprosencephaly 1 holoprosencephaly hydranencephaly hydrocephalus hydrophthalmos hypertropia idiopathic scoliosis imperforate anus intellectual disability intraorbital meningioma intraventricular meningioma isolated cleft palate isolated elevated serum creatine phosphokinase levels learning disability limb-girdle muscular dystrophy lissencephaly liver cancer lymphoid leukemia lymphoplasmacyte-rich meningioma major depressive disorder mechanical strabismus megaconial type congenital muscular dystrophy megalocornea melancholic depression meningioma meningocele meningothelial meningioma microcephaly microcystic meningioma microphthalmia muscular dystrophy-dystroglycanopathy type B1 muscular dystrophy-dystroglycanopathy type B5 muscular dystrophy-dystroglycanopathy type B6 muscular dystrophy myeloid leukemia myofibrillar myopathy 1 myofibrillar myopathy 3 myopathy myopia nemaline 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 obsolete melancholia obstructive hydrocephalus oculopharyngeal muscular dystrophy olfactory groove meningioma ophthalmoplegia optic atrophy parasagittal meningioma pathologic nystagmus peripheral retinal degeneration pituitary adenoma pontocerebellar hypoplasia type 2D pontocerebellar hypoplasia type 7 pontocerebellar hypoplasia type 8 pontocerebellar hypoplasia type 9 psammomatous meningioma recurrent corneal erosion renal agenesis retinal detachment retinitis pigmentosa rhabdomyosarcoma rigid spine muscular dystrophy 1 rippling muscle disease 2 scoliosis secretory meningioma senile degeneration of brain septooptic dysplasia short-rib thoracic dysplasia 14 with polydactyly speech disorder spinal meningioma spontaneous ocular nystagmus strabismus syndromic X-linked intellectual disability 94 syndromic X-linked intellectual disability Najm type transitional meningioma type 2 diabetes mellitus visual epilepsy

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UniCarb-DR

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