GlyCosmos Portal

Homo sapiens (human)

Summary

Taxonomy ID: 9606
PubChem Taxonomy: 9606

Genes (1582) Glycans (5831) Glycoproteins (18496) Lectins (298) Pathways (2090)

Displaying entries **451 - 475** of **1582** in total

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Gene ID ▼	Gene Name	Gene Symbol	Disease Ontology
56886	UDP-glucose glycoprotein glucosyltransferase 1	UGGT1 HUGT1	Crigler-Najjar syndrome Gilbert syndrome abdominal obesity-metabolic syndrome 1 agranulocytosis alpha 1-antitrypsin deficiency beta thalassemia bilirubin metabolic disorder cancer carcinoma cholecystolithiasis choledocholithiasis cholelithiasis cryptococcosis embryoma epilepsy gallbladder disease hepatitis C hepatitis D leukopenia liver disease neonatal jaundice neutropenia prostate cancer prostate carcinoma sarcomatoid carcinoma severe congenital neutropenia sickle cell anemia thalassemia visual epilepsy xeroderma pigmentosum group D
56848	sphingosine kinase 2	SPHK2	Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease Huntington's disease-like 1 Huntington's disease-like 2 Huntington's disease Japanese encephalitis Kaposi's sarcoma Pick's disease Reye syndrome actinic keratosis acute lymphoblastic leukemia acute pancreatitis adrenoleukodystrophy adult acute lymphocytic leukemia adult lymphoma alcoholic hepatitis alcoholic liver cirrhosis amnestic disorder anaplastic astrocytoma arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy atherosclerosis autistic disorder autoimmune disease autoimmune lymphoproliferative syndrome bile duct adenocarcinoma bile duct carcinoma bone disease bone osteosarcoma breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma cardiomyopathy cardiovascular system disease cartilage disease central nervous system cancer central nervous system lymphoma cerebral degeneration cerebral infarction cerebrovascular disease chikungunya childhood acute lymphocytic leukemia childhood cerebral astrocytoma childhood lymphoma childhood osteosarcoma cholangiocarcinoma chondrosarcoma chronic fatigue syndrome chronic kidney disease colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma connective tissue disease coronary artery disease cystic fibrosis dengue disease dengue hemorrhagic fever diabetes mellitus diabetic ketoacidosis embryoma encephalitis encephalomyelitis essential hypertension fibrillary astrocytoma gallbladder disease gemistocytic astrocytoma giant cell glioblastoma glioblastoma gliosarcoma heart disease hematologic cancer hepatocellular carcinoma high grade glioma hypertension idiopathic interstitial pneumonia immune system disease influenza intrahepatic cholangiocarcinoma juvenile pilocytic astrocytoma large intestine cancer liver cancer liver carcinoma liver cirrhosis liver disease lung benign neoplasm lung cancer lung carcinoma lung disease lung non-small cell carcinoma lupus erythematosus lymphoblastic lymphoma lymphoma lymphopenia malignant astrocytoma malignant pleural mesothelioma metabolic dysfunction-associated steatohepatitis middle cerebral artery infarction mixed glioma multiple myeloma multiple sclerosis myelitis neuroblastoma neurodegenerative disease obesity obsolete asthenopia obsolete ymphosarcoma osteoarthritis osteoglophonic dysplasia osteosarcoma pancreatic cancer pancreatic carcinoma pancreatitis papillary adenocarcinoma papillary renal cell carcinoma parapsoriasis pilocytic astrocytoma pneumonia postinflammatory pulmonary fibrosis prostate cancer prostate carcinoma protoplasmic astrocytoma psoriasis pulmonary fibrosis pustulosis of palm and sole retinal disease retinitis retrograde amnesia rheumatoid arthritis sarcomatoid carcinoma seborrheic keratosis skin disease skin squamous cell carcinoma steatotic liver disease subependymal giant cell astrocytoma synovitis systemic lupus erythematosus tenosynovitis thrombocytopenia thyroid gland papillary carcinoma type 2 diabetes mellitus ureteral obstruction vascular disease viral infectious disease yellow fever
56624	N-acylsphingosine amidohydrolase 2	ASAH2 neutral ceramidase non-lysosomal ceramidase	Alzheimer's disease autoimmune lymphoproliferative syndrome type 2A autoimmune lymphoproliferative syndrome type 2B autoimmune lymphoproliferative syndrome type 3 autoimmune lymphoproliferative syndrome cardiomyopathy celiac disease colorectal cancer congenital diaphragmatic hernia cystic fibrosis dementia diabetes mellitus diabetic ketoacidosis gallbladder disease gamma heavy chain disease glaucoma heavy chain disease inflammatory bowel disease large intestine cancer liver disease lymphoproliferative syndrome 1 lymphoproliferative syndrome 2 neuroblastoma obesity systemic Epstein-Barr virus positive T-cell lymphoma of childhood type 2 diabetes mellitus
56623	inositol polyphosphate-5-phosphatase E	INPP5E CORS1 PPI5PIV Phosphatidylinositol polyphosphate 5-phosphatase type IV pharbin	Bannayan-Riley-Ruvalcaba syndrome Bardet-Biedl syndrome 10 Bardet-Biedl syndrome 11 Bardet-Biedl syndrome 12 Bardet-Biedl syndrome 13 Bardet-Biedl syndrome 14 Bardet-Biedl syndrome 15 Bardet-Biedl syndrome 16 Bardet-Biedl syndrome 17 Bardet-Biedl syndrome 18 Bardet-Biedl syndrome 19 Bardet-Biedl syndrome 1 Bardet-Biedl syndrome 2 Bardet-Biedl syndrome 3 Bardet-Biedl syndrome 4 Bardet-Biedl syndrome 5 Bardet-Biedl syndrome 6 Bardet-Biedl syndrome 7 Bardet-Biedl syndrome 8 Bardet-Biedl syndrome 9 Bardet-Biedl syndrome Cogan syndrome Hirschsprung's disease Joubert syndrome 1 Joubert syndrome Kartagener syndrome Klippel-Feil syndrome Laurence-Moon syndrome Meckel syndrome 1 Meckel syndrome adult medulloblastoma autosomal dominant polycystic kidney disease autosomal recessive polycystic kidney disease blindness cancer cataract central sleep apnea childhood medulloblastoma cleft palate clubfoot coloboma of optic nerve coloboma communicating hydrocephalus congenital nystagmus congenital ptosis cystic kidney disease dextrocardia diffuse interstitial keratitis dissociated nystagmus embryoma epilepsy episodic kinesigenic dyskinesia 1 fundus dystrophy glomerulonephritis hepatocellular carcinoma hydrocephalus hypertropia inguinal hernia intellectual disability interstitial lung disease isolated cleft palate kidney disease kidney failure learning disability leukoplakia of penis liver cancer liver cirrhosis mechanical strabismus medulloblastoma medullomyoblastoma melanoma melanotic medulloblastoma nephritis nephrosis non-congenital cyst of kidney obesity obstructive hydrocephalus oculocerebrorenal syndrome ophthalmoplegia patent ductus arteriosus pathologic nystagmus polycystic kidney disease 4 polydactyly portal hypertension primary ciliary dyskinesia 1 primary ciliary dyskinesia ptosis pyoureter scoliosis senile degeneration of brain skin melanoma spondylolisthesis spontaneous ocular nystagmus strabismus viral infectious disease visual epilepsy visual pathway disease
56548	carbohydrate sulfotransferase 7	CHST7 C6ST-2 C6ST2	bronchus cancer bronchus carcinoma colorectal cancer colorectal carcinoma large intestine cancer lung benign neoplasm lung cancer lung carcinoma pneumonia
56261	glycerophosphocholine phosphodiesterase 1	GPCPD1 GDE5 GDPD6 KIAA1434	eating disorder endometrial cancer endometrial carcinoma obesity uterine corpus cancer
56052	ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase	ALG1 CDG1K HMAT1 HMT-1 Mat-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
55997	cryptic, EGF-CFC family member 1	CFC1 CRYPTIC	Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease B-cell lymphoma Langerhans-cell histiocytosis Marfan syndrome Pick's disease Reye syndrome aromatase excess syndrome arteriosclerotic cardiovascular disease atherosclerosis 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 atrioventricular septal defect autoimmune hepatitis biliary atresia cancer cardiofaciocutaneous syndrome 1 cardiofaciocutaneous syndrome cardiovascular system disease cerebral degeneration congenital adrenal hyperplasia congenital heart disease coronary artery disease dextro-looped transposition of the great arteries disease of metabolism double outlet right ventricle embryoma essential thrombocythemia gallbladder disease gastric adenocarcinoma gastrointestinal system cancer heart disease hepatitis liver disease lymphoma malaria multiple types of congenital heart defects 6 myelodysplastic syndrome neuroblastoma non-Hodgkin lymphoma obsolete dextro-looped transposition of the great arteries 1 obsolete ymphosarcoma patent foramen ovale reticulosarcoma right atrial isomerism schizophrenia situs inversus tuberculosis tuberous sclerosis visceral heterotaxy
55959	sulfatase 2	SULF2 HSULF-2 KIAA1247 SULF-2	acute pancreatitis adenocarcinoma adenoma arthritis arthropathy brain cancer breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma central nervous system cancer chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma colorectal cancer colorectal carcinoma cribriform carcinoma diabetes mellitus dilated cardiomyopathy 1A dilated cardiomyopathy embryoma endometriosis of ovary endometriosis of uterus endometriosis essential hypertension giant cell glioblastoma glioblastoma gliosarcoma granular cell carcinoma hepatocellular carcinoma high grade glioma hyperlipoproteinemia type III hypertension idiopathic interstitial pneumonia idiopathic pulmonary fibrosis invasive ductal carcinoma large intestine cancer liver cancer liver carcinoma lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma mixed glioma neuroblastoma nonpapillary renal cell carcinoma obesity osteoarthritis pancreatic cancer pancreatic carcinoma pancreatitis papillary renal cell carcinoma parapsoriasis postinflammatory pulmonary fibrosis prostate cancer prostate carcinoma psoriasis pulmonary fibrosis pure red-cell aplasia pustulosis of palm and sole renal carcinoma renal cell carcinoma sarcomatoid renal cell carcinoma seminoma skin benign neoplasm skin cancer squamous cell carcinoma stomach cancer stomach carcinoma testicular cancer testis seminoma tongue squamous cell carcinoma tubular adenocarcinoma type 2 diabetes mellitus uveal melanoma
55915	LanC like glutathione S-transferase 2	LANCL2
55907	cytidine monophosphate N-acetylneuraminic acid synthetase	CMAS CMP-Neu5Ac synthetase N-acylneuraminate cytidylyltransferase	Churg-Strauss syndrome Coffin-Siris syndrome 1 Coffin-Siris syndrome Graves' disease Norrie disease autistic disorder cancer chromophobe renal cell carcinoma chronic kidney disease clear cell renal cell carcinoma collecting duct carcinoma colorectal cancer colorectal carcinoma embryoma epithelioid sarcoma focal segmental glomerulosclerosis gastrointestinal stromal tumor gastrointestinal system cancer giant cell glioblastoma glioblastoma head and neck squamous cell carcinoma high grade glioma hyperthyroidism intellectual disability large intestine cancer laryngeal benign neoplasm laryngeal carcinoma larynx cancer learning disability liver cirrhosis mediastinal malignant lymphoma melanoma nonpapillary renal cell carcinoma obesity papillary renal cell carcinoma paraganglioma primary immunodeficiency disease prostate cancer prostate carcinoma renal artery obstruction renal carcinoma renal cell carcinoma sarcoma sarcomatoid renal cell carcinoma skin melanoma spindle cell sarcoma steatotic liver disease thyrotoxicosis transitional cell carcinoma tuberculosis vasculitis
55902	acyl-CoA synthetase short chain family member 2	ACSS2 ACS ACSA AceCS dJ1161H23.1	Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease Crohn's colitis Crohn's disease Ewing sarcoma Klippel-Feil syndrome Marfan syndrome McCune Albright syndrome Pick's disease Reye syndrome Stevens-Johnson syndrome abdominal aortic aneurysm acquired immunodeficiency syndrome acute chest syndrome acute lymphoblastic leukemia acute myocardial infarction adult acute lymphocytic leukemia alcohol dependence alcohol use disorder aortic valve insufficiency appendicitis arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthropathy atherosclerosis atrial fibrillation bacterial sepsis bladder carcinoma breast cancer breast carcinoma cancer cardiac arrest cardiovascular system disease central nervous system cancer cerebral degeneration cerebral infarction cerebrovascular disease childhood acute lymphocytic leukemia cholecystolithiasis choledocholithiasis cholelithiasis chromophobe renal cell carcinoma chronic kidney disease chronic obstructive pulmonary disease clear cell renal cell carcinoma collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma congenital diaphragmatic hernia congestive heart failure coronary aneurysm coronary artery disease coronary thrombosis decubitus ulcer depressive disorder diabetes insipidus diabetes mellitus diabetic ketoacidosis disease of mental health distal arthrogryposis dysthymic disorder embryoma endometrial cancer endometrial carcinoma epithelioid sarcoma erythema multiforme esophageal cancer esophageal carcinoma esophageal disease esophagus squamous cell carcinoma essential hypertension familial adenomatous polyposis familial hypercholesterolemia gastroschisis giant cell glioblastoma glioblastoma gliosarcoma head and neck cancer heart disease hepatocellular carcinoma hiatus hernia high grade glioma human immunodeficiency virus infectious disease hypertension hypoplastic left heart syndrome impotence inflammatory bowel disease 1 inflammatory bowel disease insulinoma islet cell tumor kidney failure large intestine cancer laryngeal benign neoplasm laryngeal carcinoma larynx cancer leishmaniasis liver cancer liver carcinoma lung cancer lung non-small cell carcinoma lymphangioleiomyomatosis major depressive disorder melancholic depression mixed glioma morbid obesity myocardial infarction neuroendocrine carcinoma neuroendocrine tumor neurohypophyseal diabetes insipidus neurotic disorder nodular prostate nonpapillary renal cell carcinoma nutmeg liver obesity obsolete melancholia obstructive sleep apnea omphalocele orofacial cleft pancreatic adenocarcinoma pancreatic cancer papillary renal cell carcinoma peripheral artery disease pneumonia premature ejaculation primary hypertrophic osteoarthropathy prostate cancer prostate carcinoma prostatic adenoma psychologic dyspareunia psychotic disorder rectal benign neoplasm rectum adenocarcinoma rectum cancer renal carcinoma renal cell carcinoma retroperitoneal sarcoma sarcomatoid renal cell carcinoma septic arthritis silent myocardial infarction situs inversus spinal cancer spindle cell sarcoma spondylolisthesis steatotic liver disease stomach cancer stomach carcinoma stomach disease subacute delirium substance abuse substance-related disorder synovitis tenosynovitis thrombophilia thrombotic thrombocytopenic purpura tuberous sclerosis type 2 diabetes mellitus ulcerative colitis umbilical hernia uremia urinary bladder cancer urinary system benign neoplasm urinary system cancer uterine corpus cancer visceral leishmaniasis
55862	ethylmalonyl-CoA decarboxylase 1	ECHDC1 dJ351K20.2	bladder carcinoma breast cancer breast carcinoma melanoma ovarian cancer ovarian carcinoma skin melanoma urinary bladder cancer
55858	transmembrane protein 165	TMEM165 GDT1 SLC64A1 TMPT27 TPA regulated locus TPARL	Camurati-Engelmann disease Laron syndrome Marfan syndrome X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 achondroplasia acoustic neuroma amelogenesis imperfecta hypomaturation type 2A2 amelogenesis imperfecta hypomaturation type 2A3 amelogenesis imperfecta hypomaturation type 2A4 amelogenesis imperfecta hypomaturation type 2A5 amelogenesis imperfecta type 1A amelogenesis imperfecta type 1B amelogenesis imperfecta type 1C amelogenesis imperfecta type 1E amelogenesis imperfecta type 1F amelogenesis imperfecta type 1G amelogenesis imperfecta type 1H amelogenesis imperfecta type 2A1 amelogenesis imperfecta type 3A amelogenesis imperfecta type 4 amelogenesis imperfecta cancer cellular schwannoma chondrodysplasia punctata congenital disorder of glycosylation type II congenital disorder of glycosylation type IIk congenital disorder of glycosylation dentin dysplasia dentinogenesis imperfecta embryoma hepatocellular carcinoma isolated elevated serum creatine phosphokinase levels liver cancer melanotic neurilemmoma meningioma neurilemmoma neurofibromatosis osteoporosis pituitary adenoma plexiform schwannoma scoliosis situs inversus tuberous sclerosis vestibular schwannomatosis
55830	glycosyltransferase 8 domain containing 1	GLT8D1 AD-017 FLJ14611	amyotrophic lateral sclerosis anxiety disorder arthritis arthropathy bipolar disorder depressive disorder dysplastic nevus syndrome dysthymic disorder generalized anxiety disorder laryngostenosis major depressive disorder melancholic depression melanoma neurotic disorder obsolete melancholia osteoarthritis progressive muscular atrophy schizophrenia skin melanoma
55811	adenylate cyclase 10	ADCY10
55808	ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	ST6GALNAC1 ST6GalNAcI	acute myocardial infarction bladder carcinoma breast cancer cancer colon cancer colon carcinoma colonic benign neoplasm colorectal cancer coronary thrombosis embryoma endometrial cancer endometrial carcinoma esophagus squamous cell carcinoma inflammatory bowel disease 1 inflammatory bowel disease large intestine cancer myocardial infarction ovarian cancer ovarian carcinoma schizophrenia silent myocardial infarction stomach cancer stomach carcinoma ulcerative colitis urinary bladder cancer uterine corpus cancer
55799	calcium voltage-gated channel auxiliary subunit alpha2delta 3	CACNA2D3 HSA272268 alpha2delta-3	acute myeloid leukemia anemia breast cancer breast carcinoma cancer carcinoma central nervous system cancer deficiency anemia embryoma endometrial cancer endometrial carcinoma esophagus squamous cell carcinoma gliosarcoma heart conduction disease high grade glioma hypochromic anemia lung squamous cell carcinoma macrocytic anemia microcytic anemia mixed glioma nasopharynx carcinoma nicotine dependence prostate cancer prostate carcinoma sarcomatoid carcinoma schizophrenia stomach cancer stomach carcinoma uterine corpus cancer
55790	chondroitin sulfate N-acetylgalactosaminyltransferase 1	CSGALNACT1 CSGalNAcT-1 ChGn FLJ11264 chondroitin beta1,4 N-acetylgalactosaminyltransferase glucuronylgalactosylproteoglycan 4-beta-N- acetylgalactosaminyltransferase	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
55768	N-glycanase 1	NGLY1 FLJ11005 PNG-1 PNG1 peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase peptide:N-glycanase	Cogan syndrome NGLY1-deficiency Unverricht-Lundborg syndrome West syndrome alternating exotropia amyotrophic lateral sclerosis anhidrosis antithrombin III deficiency atrophic gastritis blepharospasm cancer cerebral degeneration choreatic disease cone-rod dystrophy congenital afibrinogenemia congenital ptosis corneal neovascularization corneal ulcer craniosynostosis critical illness polyneuropathy diffuse interstitial keratitis early myoclonic encephalopathy embryoma epilepsy exotropia factor V deficiency factor VII deficiency focal epilepsy focal hand dystonia fundus albipunctatus hydrocephalus hypertropia hypohidrosis inflammatory and toxic neuropathy lingual-facial-buccal dyskinesia mechanical strabismus melanoma meningoencephalitis microcephaly monocular exotropia movement disease neuropathy obsolete infantile epileptic encephalopathy obstructive sleep apnea ophthalmoplegia optic atrophy osteoporosis peripheral nervous system disease placental insufficiency polyneuropathy progressive muscular atrophy protein C deficiency protein S deficiency ptosis recurrent corneal erosion retinitis pigmentosa scoliosis skin melanoma stomach cancer stomach carcinoma strabismus syndromic X-linked intellectual disability type 10 thrombophilia visual epilepsy
55757	UDP-glucose glycoprotein glucosyltransferase 2	UGGT2 FLJ10873 FLJ11485 HUGT2 MGC117360 MGC150689 MGC87276 UDP-glucose:glycoprotein glucosyltransferase 2	acute myocardial infarction cancer coronary thrombosis diabetes mellitus embryoma myocardial infarction silent myocardial infarction type 2 diabetes mellitus
55753	oxoglutarate dehydrogenase L	OGDHL FLJ10851	Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease Pick's disease Reye syndrome Yoon-Bellen neurodevelopmental syndrome breast cancer cancer cerebral degeneration colorectal cancer colorectal carcinoma embryoma eosinophilic esophagitis hepatocellular carcinoma large intestine cancer liver cancer oxoglutarate dehydrogenase deficiency pancreatic cancer pancreatic carcinoma
55750	acylglycerol kinase	AGK FLJ10842	3-methylglutaconic aciduria Chanarin-Dorfman syndrome Sengers syndrome agnosia 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 cancer cardiomyopathy cataract 1 multiple types cataract 10 multiple types cataract 11 multiple types cataract 12 multiple types cataract 13 with adult i phenotype cataract 14 multiple types cataract 15 multiple types cataract 16 multiple types cataract 17 multiple types cataract 18 cataract 19 multiple types cataract 2 multiple types cataract 20 multiple types cataract 21 multiple types cataract 22 multiple types cataract 23 cataract 24 cataract 25 cataract 26 multiple types cataract 27 cataract 29 cataract 3 multiple types cataract 30 cataract 31 multiple types cataract 32 multiple types cataract 33 cataract 34 multiple types cataract 35 cataract 37 cataract 38 cataract 39 multiple types cataract 4 multiple types cataract 40 cataract 41 cataract 42 cataract 43 cataract 44 cataract 45 cataract 46 juvenile-onset cataract 5 multiple types cataract 6 multiple types cataract 7 cataract 8 multiple types cataract 9 multiple types cataract central nervous system cancer cervical squamous cell carcinoma cervix uteri carcinoma in situ congenital muscular dystrophy congenital nystagmus corneal dystrophy developmental coordination disorder dissociated nystagmus distal myopathy embryoma endomyocardial fibrosis esophagus squamous cell carcinoma facioscapulohumeral muscular dystrophy familial hypertrophic cardiomyopathy familial periodic paralysis glaucoma gliosarcoma high grade glioma hypertrophic cardiomyopathy hypertropia lactic acidosis limb-girdle muscular dystrophy mechanical strabismus mitochondrial DNA depletion syndrome 12b mitochondrial metabolism disease mitochondrial myopathy mixed glioma muscular dystrophy myopathy myopia nasopharynx carcinoma 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 ophthalmoplegia papillary adenocarcinoma papillary renal cell carcinoma pathologic nystagmus prostate cancer prostate carcinoma spontaneous ocular nystagmus squamous cell carcinoma strabismus thyroid adenoma thyroid cancer thyroid gland carcinoma thyroid gland papillary carcinoma tongue squamous cell carcinoma trichohepatoenteric syndrome 1
55741	ER degradation enhancing alpha-mannosidase like protein 2	EDEM2 FLJ10783 bA4204.1	Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease Pick's disease Reye syndrome cerebral degeneration leiomyoma myofibroma schizophrenia uterine fibroid
55711	fatty acyl-CoA reductase 2	FAR2 FLJ10462 SDR10E2 short chain dehydrogenase/reductase family 10E, member 2	alopecia atopic dermatitis chronic kidney disease dermatitis dry eye syndrome glomerulonephritis kidney disease nephritis nephrosis pyoureter

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