GlyCosmos Portal

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UniProt ID	Protein Name	Gene Symbol	No. of Glycosylation Sites	No. of GlyTouCan IDs	Disease Ontology ▲
Q6SZW1	NAD(+) hydrolase SARM1	SARM1 KIAA0524 SAMD2 SARM	1	2	Grn-related frontotemporal lobar degeneration with Tdp43 inclusions Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease alternating hemiplegia of childhood amyotrophic lateral sclerosis type 1 amyotrophic lateral sclerosis type 2 amyotrophic lateral sclerosis type 4 amyotrophic lateral sclerosis type 6 amyotrophic lateral sclerosis anterior horn cell disease autonomic neuropathy autosomal recessive distal hereditary motor neuronopathy 1 bacterial sepsis central nervous system disease chronic obstructive pulmonary disease disease of metabolism frontotemporal dementia late onset Parkinson's disease lateral sclerosis motor neuron disease nervous system disease neurodegenerative disease neuropathy peripheral nervous system disease polyneuropathy progressive muscular atrophy prostate cancer prostate carcinoma steatotic liver disease stomach cancer stomach carcinoma substance abuse substance-related disorder
Q6P4F1	Alpha-(1,3)-fucosyltransferase 10	FUT10	7	3	Grn-related frontotemporal lobar degeneration with Tdp43 inclusions amnestic disorder bronchus cancer bronchus carcinoma colon adenocarcinoma dissociative amnesia frontotemporal dementia hepatocellular carcinoma liver cancer lung benign neoplasm lung cancer lung carcinoma retrograde amnesia
O94923	D-glucuronyl C5-epimerase	GLCE KIAA0836	8	14	Grn-related frontotemporal lobar degeneration with Tdp43 inclusions amyotrophic lateral sclerosis breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer embryoma essential hypertension frontotemporal dementia hypertension luminal breast carcinoma A lung benign neoplasm lung cancer lung carcinoma lung small cell carcinoma nodular prostate progressive muscular atrophy prostate cancer prostate carcinoma prostate disease prostatic adenoma
Q9NPH2	Inositol-3-phosphate synthase 1	ISYNA1 INO1	0	1	Guillain-Barre syndrome Hodgkin's granuloma Hodgkin's lymphoma, lymphocytic depletion Hodgkin's lymphoma, lymphocytic-histiocytic predominance Hodgkin's lymphoma, mixed cellularity Hodgkin's lymphoma Loeffler syndrome Miller Fisher syndrome Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Plasmodium falciparum malaria Richter's syndrome Stiff-Person syndrome Unverricht-Lundborg syndrome Zika fever acute lymphoblastic leukemia acute myocardial infarction acute pancreatitis adenocarcinoma adenoid cystic carcinoma adenoma adult lymphoma allergic asthma arteriosclerotic cardiovascular disease arthritis arthropathy asthma atherosclerosis atrial fibrillation bacterial sepsis bladder carcinoma blepharospasm brain stem infarction breast cancer breast carcinoma bronchiectasis bronchiolitis bronchus cancer bronchus carcinoma cancer celiac disease central nervous system cancer central nervous system lymphoma cerebral artery occlusion cerebral infarction cerebral malaria cerebrovascular disease childhood lymphoma chronic fatigue syndrome chronic lymphocytic leukemia chronic obstructive pulmonary disease colitis colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma congestive heart failure coronary artery disease coronary thrombosis cribriform carcinoma cystic fibrosis dentin sensitivity diabetes mellitus diabetic cataract diabetic ketoacidosis diabetic retinopathy disease of mental health early myoclonic encephalopathy embryoma encephalitis encephalomyelitis eosinophilic pneumonia epilepsy epithelioid sarcoma essential hypertension focal hand dystonia gallbladder cancer gallbladder carcinoma gallbladder disease gastroenteritis gliosarcoma glucocorticoid-remediable aldosteronism granular cell carcinoma head and neck squamous cell carcinoma hepatic coma hepatic encephalopathy hepatitis B hepatitis C hepatocellular carcinoma high grade glioma hypertension ileitis ileocolitis inclusion body myositis inflammatory bowel disease 1 inflammatory bowel disease influenza intrahepatic cholestasis of pregnancy intrinsic asthma large intestine cancer liver cancer liver cirrhosis liver disease lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung disease lymphoblastic lymphoma lymphoma malaria melanoma migraine mixed glioma multiple sclerosis myelitis myelomeningocele myocardial infarction myocarditis neuroendocrine carcinoma neuroendocrine tumor nodular prostate nutmeg liver obsolete type 1 diabetes mellitus 9 obsolete ymphosarcoma osteoarthritis pancreatitis parapsoriasis plasmacytoma pneumonia polycystic ovary syndrome polycythemia vera polycythemia portal hypertension pre-eclampsia primary cutaneous amyloidosis prostate cancer prostate carcinoma prostatic adenoma psoriasis psychotic disorder pulmonary emphysema pulmonary eosinophilia pustulosis of palm and sole renal osteodystrophy respiratory syncytial virus infectious disease retinal disease retinitis rheumatoid arthritis salivary gland adenoid cystic carcinoma salivary gland cancer sarcoma silent myocardial infarction skin benign neoplasm skin cancer skin melanoma spina bifida spindle cell sarcoma steatotic liver disease stomach cancer stomach carcinoma tethered spinal cord syndrome tongue squamous cell carcinoma transitional cell carcinoma 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 ureteral obstruction urinary bladder cancer vascular disease viral infectious disease visual epilepsy vitiligo
Q8TDX6	Chondroitin sulfate N-acetylgalactosaminyltransferase 1	CSGALNACT1 CHGN GALNACT1	5	4	Guillain-Barre syndrome Laron syndrome Miller Fisher syndrome achondroplasia anorexia nervosa breast cancer colon cancer colon carcinoma colonic benign neoplasm colorectal cancer diabetic ketoacidosis large intestine cancer melanoma multiple sclerosis obsolete type 1 diabetes mellitus 9 skin melanoma 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
Q9Y336	Sialic acid-binding Ig-like lectin 9	SIGLEC9	8	0	Guillain-Barre syndrome Miller Fisher syndrome allergic asthma arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy asthma atherosclerosis cancer carcinoma chikungunya chronic obstructive pulmonary disease colorectal cancer colorectal carcinoma dengue hemorrhagic fever embryoma giant cell glioblastoma glioblastoma hepatitis high grade glioma intrinsic asthma large intestine cancer lung cancer lung non-small cell carcinoma melanoma pulmonary emphysema rheumatoid arthritis sarcomatoid carcinoma skin melanoma
Q14376	UDP-glucose 4-epimerase	GALE	0	1	Guillain-Barre syndrome Miller Fisher syndrome benign familial infantile epilepsy benign familial neonatal epilepsy benign neonatal seizures classic galactosemia cystinuria galactokinase deficiency galactose epimerase deficiency galactosemia glucosephosphate dehydrogenase deficiency glycogen storage disease Ia glycogen storage disease stomach cancer stomach carcinoma tuberculosis
Q9H4F1	Alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3-N-acetyl-galactosaminide alpha-2,6-sialyltransferase	ST6GALNAC4 SIAT3C SIAT7D	5	3	Guillain-Barre syndrome Miller Fisher syndrome cancer thyroid gland follicular carcinoma
O94766	Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3	B3GAT3	3	2	Hailey-Hailey disease Laron syndrome Larsen-like syndrome B3GAT3 type Marfan syndrome Rothmund-Thomson syndrome achondroplasia amblyopia aortic valve disease 1 aortic valve disease 2 aortic valve stenosis 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 cutis laxa 1 autosomal dominant cutis laxa 2 autosomal dominant cutis laxa 3 autosomal dominant cutis laxa autosomal recessive cutis laxa type IA autosomal recessive cutis laxa type IB autosomal recessive cutis laxa type II classic type autosomal recessive cutis laxa type IIA autosomal recessive cutis laxa type IIB autosomal recessive cutis laxa type IIC autosomal recessive cutis laxa type IID autosomal recessive cutis laxa type IIIA autosomal recessive cutis laxa type IIIB bicuspid aortic valve disease buphthalmos cancer cleft palate cleidocranial dysplasia clubfoot communicating hydrocephalus congenital heart disease craniosynostosis cutis laxa esotropia geroderma osteodysplasticum glaucoma hepatocellular carcinoma humeroradial synostosis hydrocephalus hydrophthalmos hyperopia idiopathic interstitial pneumonia idiopathic pulmonary fibrosis isolated cleft palate juvenile glaucoma liver cancer liver carcinoma mal de Meleda mitral valve insufficiency mitral valve prolapse monocular esotropia mucopolysaccharidosis IV multiple epiphyseal dysplasia obstructive hydrocephalus osteochondrodysplasia osteoporosis patent foramen ovale postinflammatory pulmonary fibrosis postural orthostatic tachycardia syndrome pulmonary fibrosis radioulnar synostosis refractive error restrictive dermopathy scoliosis senile degeneration of brain situs inversus strabismic amblyopia thoracic aortic aneurysm tuberous sclerosis
O95528	Solute carrier family 2, facilitated glucose transporter member 10	SLC2A10 GLUT10	1	0	Hailey-Hailey disease Legg-Calve-Perthes disease Loeys-Dietz syndrome Moyamoya disease Rothmund-Thomson syndrome X-linked dilated cardiomyopathy acute myocardial infarction adenocarcinoma adenoma adult respiratory distress syndrome allergic asthma aortic aneurysm aortic valve disease 2 aortic valve insufficiency aortic valve stenosis arterial tortuosity syndrome asthma autosomal dominant cutis laxa 1 autosomal dominant cutis laxa 2 autosomal dominant cutis laxa 3 autosomal dominant cutis laxa autosomal recessive cutis laxa type IA autosomal recessive cutis laxa type IB autosomal recessive cutis laxa type II classic type autosomal recessive cutis laxa type IIA autosomal recessive cutis laxa type IIB autosomal recessive cutis laxa type IIC autosomal recessive cutis laxa type IID autosomal recessive cutis laxa type IIIA autosomal recessive cutis laxa type IIIB blepharophimosis bone disease breast cancer breast carcinoma bronchiolo-alveolar adenocarcinoma bronchus cancer bronchus carcinoma cancer cardiac arrest cardiomyopathy cartilage disease cataract 32 multiple types cerebral infarction cerebrovascular disease childhood type dermatomyositis chondrosarcoma collagen disease congenital central hypoventilation syndrome congenital diaphragmatic hernia congestive heart failure connective tissue disease corneal disease coronary thrombosis craniosynostosis cribriform carcinoma cutis laxa dermatomyositis diabetes mellitus diabetic ketoacidosis dilated cardiomyopathy 1AA dilated cardiomyopathy 1B dilated cardiomyopathy 1BB dilated cardiomyopathy 1C dilated cardiomyopathy 1CC dilated cardiomyopathy 1D dilated cardiomyopathy 1DD dilated cardiomyopathy 1E dilated cardiomyopathy 1EE dilated cardiomyopathy 1FF dilated cardiomyopathy 1G dilated cardiomyopathy 1GG dilated cardiomyopathy 1H dilated cardiomyopathy 1HH dilated cardiomyopathy 1I dilated cardiomyopathy 1II dilated cardiomyopathy 1JJ dilated cardiomyopathy 1K dilated cardiomyopathy 1KK dilated cardiomyopathy 1L dilated cardiomyopathy 1M dilated cardiomyopathy 1NN dilated cardiomyopathy 1O dilated cardiomyopathy 1P dilated cardiomyopathy 1Q dilated cardiomyopathy 1R dilated cardiomyopathy 1S dilated cardiomyopathy 1T dilated cardiomyopathy 1U dilated cardiomyopathy 1V dilated cardiomyopathy 1W dilated cardiomyopathy 1X dilated cardiomyopathy 1Y dilated cardiomyopathy 1Z dilated cardiomyopathy 2A dilated cardiomyopathy 2B dilated cardiomyopathy endomyocardial fibrosis esophagitis essential hypertension familial hypertrophic cardiomyopathy gastroesophageal reflux disease granular cell carcinoma hiatus hernia hypertension hypertrophic cardiomyopathy hypertropia idiopathic interstitial pneumonia idiopathic pulmonary fibrosis inguinal hernia intellectual disability intermittent claudication interstitial lung disease intrinsic asthma keratoconus learning disability leukocyte adhesion deficiency 1 leukocyte adhesion deficiency lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma mal de Meleda mechanical strabismus megalocornea myocardial infarction myocarditis myopia newborn respiratory distress syndrome obstructive lung disease omphalocele ophthalmoplegia peptic esophagitis peripheral artery disease peripheral vascular disease pneumonia pulmonary emphysema pyloric stenosis respiratory failure restrictive dermopathy scoliosis silent myocardial infarction strabismus thoracic aortic aneurysm tubular adenocarcinoma type 2 diabetes mellitus umbilical hernia vascular disease
Q9UKM7	Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase	MAN1B1	17	4	Hailey-Hailey disease Rafiq syndrome Rothmund-Thomson syndrome agnosia alpha 1-antitrypsin deficiency autistic disorder autosomal dominant cutis laxa 1 autosomal dominant cutis laxa 2 autosomal dominant cutis laxa 3 autosomal dominant cutis laxa autosomal recessive cutis laxa type IA autosomal recessive cutis laxa type IB autosomal recessive cutis laxa type II classic type autosomal recessive cutis laxa type IIA autosomal recessive cutis laxa type IIB autosomal recessive cutis laxa type IIC autosomal recessive cutis laxa type IID autosomal recessive cutis laxa type IIIA autosomal recessive cutis laxa type IIIB bladder carcinoma bulimia nervosa cancer cerebral degeneration choreatic disease congenital disorder of glycosylation Ii congenital disorder of glycosylation type I congenital disorder of glycosylation cutis laxa depressive disorder developmental coordination disorder dysthymic disorder dystonia epilepsy focal epilepsy gallbladder disease hepatocellular carcinoma hyperopia intellectual disability learning disability lingual-facial-buccal dyskinesia liver cancer liver disease major depressive disorder mal de Meleda melancholic depression microcephaly neurotic disorder non-syndromic intellectual disability obsolete infantile epileptic encephalopathy obsolete melancholia oophoritis parametritis partial motor epilepsy pelvic inflammatory disease periventricular nodular heterotopia pyosalpinx restrictive dermopathy salpingitis stereotypic movement disorder syndactyly syndromic X-linked intellectual disability 94 syndromic X-linked intellectual disability type 10 urinary bladder cancer visual epilepsy
Q15904	V-type proton ATPase subunit S1	ATP6AP1 ATP6IP1 ATP6S1 VATPS1 XAP3	10	53	Hailey-Hailey disease Rothmund-Thomson syndrome autosomal dominant cutis laxa 1 autosomal dominant cutis laxa 2 autosomal dominant cutis laxa 3 autosomal dominant cutis laxa autosomal recessive cutis laxa type IA autosomal recessive cutis laxa type IB autosomal recessive cutis laxa type II classic type autosomal recessive cutis laxa type IIA autosomal recessive cutis laxa type IIB autosomal recessive cutis laxa type IIC autosomal recessive cutis laxa type IID autosomal recessive cutis laxa type IIIA autosomal recessive cutis laxa type IIIB cancer congenital disorder of glycosylation cutis laxa exocrine pancreatic insufficiency follicular lymphoma gallbladder disease hyperopia leukopenia liver disease mal de Meleda restrictive dermopathy steatotic liver disease tuberculosis
Q09328	Alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A	MGAT5 GGNT5	9	5	Henoch-Schoenlein purpura Richter's syndrome Zollinger-Ellison syndrome adenocarcinoma adenoma bile duct adenocarcinoma bile duct cancer bile duct carcinoma breast cancer breast carcinoma cancer carcinoma central nervous system cancer cholangiocarcinoma chromophobe renal cell carcinoma chronic lymphocytic leukemia clear cell renal cell carcinoma collecting duct carcinoma colon cancer colonic benign neoplasm depressive disorder diabetic ketoacidosis embryoma follicular adenoma gastric adenocarcinoma giant cell glioblastoma glioblastoma gliosarcoma hepatocellular carcinoma high grade glioma hyperinsulinism hypersensitivity vasculitis inflammatory bowel disease 1 inflammatory bowel disease invasive ductal carcinoma liver cancer lung benign neoplasm melanoma microcystic adenoma mixed glioma multiple sclerosis neuroblastoma nonpapillary renal cell carcinoma obsolete type 1 diabetes mellitus 9 papillary adenoma papillary renal cell carcinoma parapsoriasis prostate cancer prostate carcinoma proteinuria psoriasis pustulosis of palm and sole renal carcinoma renal cell carcinoma rheumatoid arthritis sarcomatoid carcinoma sarcomatoid renal cell carcinoma skin melanoma stomach cancer stomach carcinoma systemic lupus erythematosus type 1 diabetes mellitus 10 type 1 diabetes mellitus 11 type 1 diabetes mellitus 12 type 1 diabetes mellitus 13 type 1 diabetes mellitus 15 type 1 diabetes mellitus 17 type 1 diabetes mellitus 18 type 1 diabetes mellitus 19 type 1 diabetes mellitus 20 type 1 diabetes mellitus 21 type 1 diabetes mellitus 22 type 1 diabetes mellitus 23 type 1 diabetes mellitus 24 type 1 diabetes mellitus 2 type 1 diabetes mellitus 3 type 1 diabetes mellitus 4 type 1 diabetes mellitus 5 type 1 diabetes mellitus 6 type 1 diabetes mellitus 7 type 1 diabetes mellitus 8 type 1 diabetes mellitus ulcerative colitis urinary bladder cancer
Q9BTU6	Phosphatidylinositol 4-kinase type 2-alpha	PI4K2A	0	1	Hermansky-Pudlak syndrome breast cancer cancer embryoma giant cell glioblastoma glioblastoma
Q9NYZ4	Sialic acid-binding Ig-like lectin 8	SIGLEC8 SAF2	3	27	Hirschsprung's disease Loeffler syndrome allergic asthma anisakiasis asthma cancer chronic obstructive pulmonary disease colitis eosinophilic esophagitis eosinophilic gastritis eosinophilic gastroenteritis eosinophilic pneumonia gastritis gastroenteritis hypereosinophilic syndrome ileitis ileocolitis intrinsic asthma pneumonia pulmonary eosinophilia
Q9HB29	Interleukin-1 receptor-like 2	IL1RL2 IL1RRP2	9	0	Hirschsprung's disease acrodermatitis allergic rhinitis arthritis arthropathy colitis craniosynostosis dermatitis gastroenteritis hepatitis C hidradenitis suppurativa hidradenitis ileitis ileocolitis impetigo herpetiformis inflammatory bowel disease 1 inflammatory bowel disease osteoarthritis parapsoriasis pompholyx psoriasis pustulosis of palm and sole ulcerative colitis vasomotor rhinitis
Q9GZZ7	GDNF family receptor alpha-4	GFRA4	1	0	Hirschsprung's disease allergic asthma asthma intrinsic asthma multiple endocrine neoplasia type 1 multiple endocrine neoplasia type 2A panic disorder
Q8N6G5	Chondroitin sulfate N-acetylgalactosaminyltransferase 2	CSGALNACT2 CHGN2 GALNACT2	2	0	Hirschsprung's disease arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis multiple sclerosis
Q14982	Opioid-binding protein/cell adhesion molecule	OPCML IGLON1 OBCAM	6	0	Hodgkin's granuloma Hodgkin's lymphoma, lymphocytic depletion Hodgkin's lymphoma, lymphocytic-histiocytic predominance Hodgkin's lymphoma, mixed cellularity Hodgkin's lymphoma adenocarcinoma adenoma amyotrophic lateral sclerosis type 1 amyotrophic lateral sclerosis type 6 arthritis arthropathy bile duct adenocarcinoma bile duct carcinoma bladder carcinoma bladder urothelial carcinoma brain cancer breast cancer breast carcinoma cancer carcinoma central nervous system cancer central nervous system lymphoma cervical adenocarcinoma cervical cancer cervix carcinoma cholangiocarcinoma congenital heart disease cribriform carcinoma depressive disorder dermoid cyst of ovary distal arthrogryposis dysgerminoma embryoma esophagus squamous cell carcinoma gallbladder disease giant cell glioblastoma glioblastoma gliosarcoma granular cell carcinoma hepatocellular carcinoma high grade glioma idiopathic scoliosis intrahepatic cholangiocarcinoma liver cancer liver disease lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lymphoma major depressive disorder melancholic depression mixed glioma nasopharynx carcinoma neurotic disorder nicotine dependence obsolete melancholia obsolete ymphosarcoma osteoarthritis ovarian cancer ovarian carcinoma prostate cancer prostate carcinoma prostate lymphoma sarcomatoid carcinoma schizophrenia steatotic liver disease stomach cancer stomach carcinoma tubular adenocarcinoma urinary bladder cancer
O60449	Lymphocyte antigen 75	LY75 CD205 CLEC13B	21	2	Hodgkin's granuloma Hodgkin's lymphoma, lymphocytic depletion Hodgkin's lymphoma, lymphocytic-histiocytic predominance Hodgkin's lymphoma, mixed cellularity Hodgkin's lymphoma breast cancer breast carcinoma cancer carcinoma cholesteatoma chronic fatigue syndrome congestive heart failure diabetes mellitus dilated cardiomyopathy 1A dilated cardiomyopathy embryoma encephalitis encephalomyelitis epithelial malignant thymoma hepatitis B hepatitis C myelitis obesity ovarian cancer ovarian carcinoma polyp of middle ear thymic carcinoma thymoma thymus squamous cell carcinoma tuberculosis type 2 diabetes mellitus viral infectious disease
P19174	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-1	PLCG1 PLC1	1	1	Huntington's disease-like 1 Huntington's disease-like 2 Huntington's disease Kaposi's sarcoma Meckel syndrome Miller-Dieker lissencephaly syndrome Richter's syndrome SADDAN Sezary's disease T-cell acute lymphoblastic leukemia X-linked lymphoproliferative syndrome 1 X-linked lymphoproliferative syndrome 2 abdominal obesity-metabolic syndrome 1 achondroplasia acute monocytic leukemia acute myeloid leukemia adenocarcinoma adenoma adult T-cell leukemia/lymphoma allergic asthma angioedema angioimmunoblastic T-cell lymphoma angiosarcoma arteriosclerotic cardiovascular disease arthritis arthropathy asthma atherosclerosis atrial fibrillation autosomal dominant polycystic kidney disease bacterial sepsis bipolar disorder bone osteosarcoma borderline personality disorder breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer candidiasis carcinoma central nervous system cancer cerebral infarction cerebrovascular disease childhood angiosarcoma childhood osteosarcoma chromosome 17p13.1 deletion syndrome chronic lymphocytic leukemia colitis colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma congestive heart failure coronary artery disease cribriform carcinoma depressive disorder diabetes mellitus diabetic ketoacidosis embryoma epilepsy essential hypertension essential thrombocythemia focal segmental glomerulosclerosis fragile X syndrome gastric adenocarcinoma gastroenteritis giant cell glioblastoma glioblastoma gliosarcoma glycoproteinosis granular cell carcinoma hepatocellular carcinoma high grade glioma hypertension ileitis ileocolitis immune system disease impulse control disorder intermittent explosive disorder intrinsic asthma irritant dermatitis kleptomania large intestine cancer leukemia lissencephaly liver angiosarcoma liver cancer luminal breast carcinoma A lung benign neoplasm lung cancer lung carcinoma major depressive disorder maturity-onset diabetes of the young melancholic depression mixed glioma mucolipidosis II alpha/beta myelodysplastic syndrome obsolete melancholia oral candidiasis osteoarthritis osteosarcoma ovarian cancer ovarian carcinoma placental insufficiency primary cutaneous T-cell non-Hodgkin lymphoma prostate cancer prostate carcinoma sarcomatoid carcinoma schizophrenia squamous cell carcinoma steatotic liver disease tongue squamous cell carcinoma tubular adenocarcinoma type 2 diabetes mellitus urticaria visual epilepsy
P13807	Glycogen [starch] synthase, muscle	GYS1 GYS	2	1	Huntington's disease-like 1 Huntington's disease-like 2 Huntington's disease abdominal obesity-metabolic syndrome 1 acute myocardial infarction arthritis arthropathy cardiomyopathy coronary thrombosis diabetes mellitus diabetic ketoacidosis endomyocardial fibrosis essential thrombocythemia hypertrophic cardiomyopathy hypoglycemia myelodysplastic syndrome myocardial infarction obsolete type 1 diabetes mellitus 9 rheumatoid arthritis silent myocardial infarction 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 visual epilepsy
O00754	Lysosomal alpha-mannosidase	MAN2B1 LAMAN MANB	14	63	IgA glomerulonephritis Klippel-Feil syndrome age related macular degeneration alpha-mannosidosis aspartylglucosaminuria cerebral degeneration congenital nystagmus degeneration of macula and posterior pole dissociated nystagmus fucosidosis gingival hypertrophy gingival overgrowth glycogen storage disease II hypertrichosis inguinal hernia intellectual disability learning disability lingual-facial-buccal dyskinesia lysosomal storage disease macular degeneration methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency movement disease mucopolysaccharidosis I mucopolysaccharidosis II mucopolysaccharidosis III mucopolysaccharidosis IV mucopolysaccharidosis Ih mucopolysaccharidosis VI mucopolysaccharidosis pathologic nystagmus retinal degeneration sensorineural hearing loss spondylolisthesis spontaneous ocular nystagmus
Q07837	Amino acid transporter heavy chain SLC3A1	SLC3A1 NBAT	6	37	IgA glomerulonephritis Marfan syndrome abdominal obesity-metabolic syndrome 1 acute myocardial infarction 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 breast cancer breast carcinoma bulimia nervosa calcinosis calcium metabolism disease cancer chronic kidney disease colon carcinoma colorectal cancer congenital myasthenic syndrome 22 congenital ptosis coronary thrombosis cystinuria diabetes mellitus diabetic ketoacidosis distal myopathy epilepsy essential hypertension facioscapulohumeral muscular dystrophy galactosemia giant cell glioblastoma glioblastoma glucosephosphate dehydrogenase deficiency glycogen storage disease Ia glycogen storage disease high grade glioma hypercalcemia hypertension hypoglycemia hypogonadism hypotonia-cystinuria syndrome interstitial nephritis kidney failure lactic acidosis limb-girdle muscular dystrophy muscular dystrophy myocardial infarction nephrocalcinosis nephrolithiasis nephrosclerosis obsolete autosomal dominant limb-girdle muscular dystrophy type 1A obsolete autosomal dominant limb-girdle muscular dystrophy type 1B obsolete autosomal dominant limb-girdle muscular dystrophy type 1C obsolete autosomal recessive limb-girdle muscular dystrophy type 2R oculopharyngeal muscular dystrophy panic disorder phosphorus metabolism disease primary pulmonary hypertension prostate cancer prostate carcinoma ptosis pyelitis pyelonephritis renal hypertension renal infectious disease silent myocardial infarction situs inversus synovial sarcoma tuberous sclerosis type 2 diabetes mellitus uric acid nephrolithiasis urinary tract obstruction vesicoureteral reflux visual epilepsy
Q13018	Secretory phospholipase A2 receptor	PLA2R1 CLEC13C	3	2	IgA glomerulonephritis T-cell acute lymphoblastic leukemia Werner syndrome acute biphenotypic leukemia acute leukemia acute myeloid leukemia adrenoleukodystrophy allergic asthma asthma autoimmune disease autoimmune lymphoproliferative syndrome breast cancer breast carcinoma cancer cardiac arrest childhood leukemia chromophobe renal cell carcinoma chronic kidney disease clear cell renal cell carcinoma collecting duct carcinoma embryoma essential thrombocythemia familial nephrotic syndrome focal segmental glomerulosclerosis glomerulonephritis immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome immune system disease interstitial nephritis intrinsic asthma kidney cancer kidney disease leukemia lipoid nephrosis lupus erythematosus lupus nephritis membranous glomerulonephritis myelodysplastic syndrome nephritis nephrosis nephrotic syndrome nonpapillary renal cell carcinoma papillary renal cell carcinoma progeria prostate cancer prostate carcinoma pyelitis pyelonephritis pyoureter renal carcinoma renal cell carcinoma renal infectious disease sarcomatoid renal cell carcinoma substance abuse substance-related disorder systemic lupus erythematosus thyroid adenoma thyroid cancer thyroid gland carcinoma

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