GlyCosmos Portal

Homo sapiens (human)

Summary

Taxonomy ID: 9606
PubChem Taxonomy: 9606

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

Displaying entries **626 - 650** of **1582** in total

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Gene ID ▼	Gene Name	Gene Symbol	Disease Ontology
26232	F-box protein 2	FBXO2 FBX2 Fbg1 Fbs1 Nfb42	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 Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Pick's disease Reye syndrome cerebral degeneration hyperglycemia rheumatoid arthritis stomach cancer stomach carcinoma
26229	beta-1,3-glucuronyltransferase 3	B3GAT3 GlcAT-I galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3 glucuronosyltransferase I	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
26035	glucuronic acid epimerase	GLCE HSEPI KIAA0836 heparan sulfate epimerase	Grn-related frontotemporal lobar degeneration with Tdp43 inclusions amyotrophic lateral sclerosis breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer cerebrovascular disease 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
26033	attractin like 1	ATRNL1 ALP FLJ45344 KIAA0534	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 Becker muscular dystrophy Bloom syndrome Duchenne muscular dystrophy Huntington's disease-like 1 Huntington's disease-like 2 Huntington's disease Langerhans-cell histiocytosis Laron syndrome Marfan syndrome Pick's disease Reye syndrome Sjogren's syndrome Wilson disease achondroplasia acromegaly acute myeloid leukemia adult hypophosphatasia allergic asthma amyotrophic lateral sclerosis ankylosing spondylitis asthma 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 bone cancer bone disease bone osteosarcoma breast cancer breast carcinoma bronchus cancer bronchus carcinoma calcinosis calcium metabolism disease cancer cardiovascular system disease cartilage disease cerebral degeneration cerebral palsy childhood osteosarcoma cholestasis choriocarcinoma chromophobe renal cell carcinoma chromosome 17p13.1 deletion syndrome clear cell renal cell carcinoma cleft palate collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer connective tissue disease craniosynostosis diabetes mellitus distal arthrogryposis distal myopathy embryonal cancer endomyocardial fibrosis esophagitis extrahepatic cholestasis facioscapulohumeral muscular dystrophy 1 facioscapulohumeral muscular dystrophy familial hyperlipidemia familial hypocalciuric hypercalcemia 1 gallbladder disease gastroesophageal reflux disease germ cell and embryonal cancer germ cell cancer germinoma goiter heart disease hematopoietic system disease hemiplegia hemochromatosis hepatitis C hepatitis hepatocellular carcinoma hereditary elliptocytosis hypercalcemia hyperpituitarism hypogonadism hypophosphatasia infantile hypophosphatasia inflammatory liposarcoma iron metabolism disease isolated cleft palate keratoconjunctivitis sicca kidney failure large intestine cancer limb-girdle muscular dystrophy lipoma lissencephaly liver cancer liver carcinoma liver cirrhosis liver disease lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lymphoma muscular dystrophy myeloproliferative disorder with eosinophilia myotonic disease myotonic dystrophy type 1 myotonic dystrophy type 2 nephrocalcinosis nephrolithiasis neurodegenerative disease non-Hodgkin lymphoma nonpapillary renal cell carcinoma nontoxic goiter obsolete autosomal dominant limb-girdle muscular dystrophy type 1A obsolete autosomal dominant limb-girdle muscular dystrophy type 1B obsolete autosomal dominant limb-girdle muscular dystrophy type 1C obsolete autosomal recessive limb-girdle muscular dystrophy type 2R obsolete constipation obsolete ymphosarcoma oculopharyngeal muscular dystrophy osteoporosis osteosarcoma papillary renal cell carcinoma peptic esophagitis phosphorus metabolism disease placenta cancer pleomorphic lipoma primary biliary cholangitis primary hyperparathyroidism progressive muscular atrophy prostate cancer prostate carcinoma renal carcinoma renal cell carcinoma reticulosarcoma rheumatoid arthritis sarcomatoid renal cell carcinoma sclerosing liposarcoma situs inversus spastic diplegia spastic monoplegia spastic quadriplegic cerebral palsy steatotic liver disease subcortical band heterotopia thyroid gland disease tuberous sclerosis type 2 diabetes mellitus uremia uric acid nephrolithiasis vitelliform macular dystrophy well-differentiated liposarcoma
26007	triokinase and FMN cyclase	TKFC DKFZP586B1621 FAD-AMP lyase (cyclizing) NET45	cataract diabetes mellitus diabetic ketoacidosis liver disease type 2 diabetes mellitus
25976	TCDD inducible poly(ADP-ribose) polymerase	TIPARP ARTD14 DDF1 DKFZP434J214 DKFZp686N0351 PARP-1 PARP-7 PARP7 RM1 pART14	acoustic neuroma alcohol dependence alcohol use disorder angiomatous meningioma benign meningioma cancer cerebral convexity meningioma cervical cancer cervix carcinoma clear cell meningioma embryoma fibrous meningioma hepatitis A hepatitis intraorbital meningioma intraventricular meningioma meningioma meningothelial meningioma microcystic meningioma olfactory groove meningioma ovarian cancer parasagittal meningioma pituitary adenoma psammomatous meningioma secretory meningioma spinal meningioma transitional meningioma
25948	kelch repeat and BTB domain containing 2	KBTBD2
25839	component of oligomeric golgi complex 4	COG4 COD1 DKFZP586E1519	Laron syndrome Saul-Wilson syndrome X-linked nonsyndromic deafness achondroplasia agnosia agranulocytosis apraxia autosomal dominant auditory neuropathy 1 autosomal dominant nonsyndromic deafness 10 autosomal dominant nonsyndromic deafness 11 autosomal dominant nonsyndromic deafness 12 autosomal dominant nonsyndromic deafness 13 autosomal dominant nonsyndromic deafness 15 autosomal dominant nonsyndromic deafness 16 autosomal dominant nonsyndromic deafness 17 autosomal dominant nonsyndromic deafness 18 autosomal dominant nonsyndromic deafness 1 autosomal dominant nonsyndromic deafness 20 autosomal dominant nonsyndromic deafness 21 autosomal dominant nonsyndromic deafness 22 autosomal dominant nonsyndromic deafness 23 autosomal dominant nonsyndromic deafness 24 autosomal dominant nonsyndromic deafness 25 autosomal dominant nonsyndromic deafness 27 autosomal dominant nonsyndromic deafness 28 autosomal dominant nonsyndromic deafness 2A autosomal dominant nonsyndromic deafness 2B autosomal dominant nonsyndromic deafness 30 autosomal dominant nonsyndromic deafness 31 autosomal dominant nonsyndromic deafness 33 autosomal dominant nonsyndromic deafness 36 autosomal dominant nonsyndromic deafness 3A autosomal dominant nonsyndromic deafness 3B autosomal dominant nonsyndromic deafness 40 autosomal dominant nonsyndromic deafness 41 autosomal dominant nonsyndromic deafness 43 autosomal dominant nonsyndromic deafness 44 autosomal dominant nonsyndromic deafness 47 autosomal dominant nonsyndromic deafness 48 autosomal dominant nonsyndromic deafness 49 autosomal dominant nonsyndromic deafness 4A autosomal dominant nonsyndromic deafness 4B autosomal dominant nonsyndromic deafness 50 autosomal dominant nonsyndromic deafness 51 autosomal dominant nonsyndromic deafness 52 autosomal dominant nonsyndromic deafness 53 autosomal dominant nonsyndromic deafness 54 autosomal dominant nonsyndromic deafness 56 autosomal dominant nonsyndromic deafness 58 autosomal dominant nonsyndromic deafness 59 autosomal dominant nonsyndromic deafness 5 autosomal dominant nonsyndromic deafness 64 autosomal dominant nonsyndromic deafness 65 autosomal dominant nonsyndromic deafness 66 autosomal dominant nonsyndromic deafness 67 autosomal dominant nonsyndromic deafness 68 autosomal dominant nonsyndromic deafness 69 autosomal dominant nonsyndromic deafness 6 autosomal dominant nonsyndromic deafness 70 autosomal dominant nonsyndromic deafness 7 autosomal dominant nonsyndromic deafness 9 autosomal dominant nonsyndromic deafness autosomal recessive nonsyndromic deafness 101 autosomal recessive nonsyndromic deafness 102 autosomal recessive nonsyndromic deafness 103 autosomal recessive nonsyndromic deafness 104 autosomal recessive nonsyndromic deafness 12 autosomal recessive nonsyndromic deafness 13 autosomal recessive nonsyndromic deafness 14 autosomal recessive nonsyndromic deafness 15 autosomal recessive nonsyndromic deafness 16 autosomal recessive nonsyndromic deafness 17 autosomal recessive nonsyndromic deafness 18A autosomal recessive nonsyndromic deafness 18B autosomal recessive nonsyndromic deafness 1A autosomal recessive nonsyndromic deafness 1B autosomal recessive nonsyndromic deafness 20 autosomal recessive nonsyndromic deafness 21 autosomal recessive nonsyndromic deafness 22 autosomal recessive nonsyndromic deafness 23 autosomal recessive nonsyndromic deafness 24 autosomal recessive nonsyndromic deafness 25 autosomal recessive nonsyndromic deafness 26 autosomal recessive nonsyndromic deafness 27 autosomal recessive nonsyndromic deafness 28 autosomal recessive nonsyndromic deafness 29 autosomal recessive nonsyndromic deafness 2 autosomal recessive nonsyndromic deafness 30 autosomal recessive nonsyndromic deafness 31 autosomal recessive nonsyndromic deafness 32 autosomal recessive nonsyndromic deafness 33 autosomal recessive nonsyndromic deafness 35 autosomal recessive nonsyndromic deafness 36 autosomal recessive nonsyndromic deafness 37 autosomal recessive nonsyndromic deafness 38 autosomal recessive nonsyndromic deafness 39 autosomal recessive nonsyndromic deafness 3 autosomal recessive nonsyndromic deafness 40 autosomal recessive nonsyndromic deafness 42 autosomal recessive nonsyndromic deafness 44 autosomal recessive nonsyndromic deafness 45 autosomal recessive nonsyndromic deafness 46 autosomal recessive nonsyndromic deafness 47 autosomal recessive nonsyndromic deafness 48 autosomal recessive nonsyndromic deafness 49 autosomal recessive nonsyndromic deafness 4 autosomal recessive nonsyndromic deafness 51 autosomal recessive nonsyndromic deafness 53 autosomal recessive nonsyndromic deafness 55 autosomal recessive nonsyndromic deafness 59 autosomal recessive nonsyndromic deafness 5 autosomal recessive nonsyndromic deafness 61 autosomal recessive nonsyndromic deafness 62 autosomal recessive nonsyndromic deafness 63 autosomal recessive nonsyndromic deafness 65 autosomal recessive nonsyndromic deafness 66 autosomal recessive nonsyndromic deafness 67 autosomal recessive nonsyndromic deafness 68 autosomal recessive nonsyndromic deafness 6 autosomal recessive nonsyndromic deafness 70 autosomal recessive nonsyndromic deafness 71 autosomal recessive nonsyndromic deafness 74 autosomal recessive nonsyndromic deafness 76 autosomal recessive nonsyndromic deafness 77 autosomal recessive nonsyndromic deafness 79 autosomal recessive nonsyndromic deafness 7 autosomal recessive nonsyndromic deafness 83 autosomal recessive nonsyndromic deafness 84A autosomal recessive nonsyndromic deafness 84B autosomal recessive nonsyndromic deafness 85 autosomal recessive nonsyndromic deafness 86 autosomal recessive nonsyndromic deafness 88 autosomal recessive nonsyndromic deafness 89 autosomal recessive nonsyndromic deafness 8 autosomal recessive nonsyndromic deafness 91 autosomal recessive nonsyndromic deafness 93 autosomal recessive nonsyndromic deafness 96 autosomal recessive nonsyndromic deafness 97 autosomal recessive nonsyndromic deafness 98 autosomal recessive nonsyndromic deafness 9 autosomal recessive nonsyndromic deafness blood coagulation disease cataract 5 multiple types cataract cerebral degeneration clubfoot cone-rod dystrophy congenital disorder of glycosylation Ii congenital disorder of glycosylation type I congenital disorder of glycosylation type II congenital disorder of glycosylation type IIj congenital nystagmus congenital stationary night blindness 1A congenital stationary night blindness developmental coordination disorder dissociated nystagmus enophthalmos fundus albipunctatus microcephaly neutropenia night blindness obsolete autosomal recessive nonsyndromic deafness 105 obsolete exophthalmos obsolete inherited blood coagulation disease orbital disease pathologic nystagmus placental insufficiency retinitis pigmentosa 3 retinitis pigmentosa sensorineural hearing loss severe congenital neutropenia spontaneous ocular nystagmus thrombocytopenia
25834	MGAT4 family member C	MGAT4C HGNT-IV-H	diabetes mellitus nicotine dependence prostate cancer prostate carcinoma type 2 diabetes mellitus
25796	6-phosphogluconolactonase	PGLS 6PGL	breast cancer breast carcinoma luminal breast carcinoma A malaria osteoporosis reflex sympathetic dystrophy
23761	phosphatidylserine decarboxylase	PISD PSDC dJ858B16.2	Parkinson's disease cancer chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma common wart embryoma microcephaly nonpapillary renal cell carcinoma papillary renal cell carcinoma renal carcinoma renal cell carcinoma retinal disease sarcomatoid renal cell carcinoma
23729	sedoheptulokinase	SHPK
23659	phospholipase A2 group XV	PLA2G15 GXVPLA2 LLPL	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 aortic valve insufficiency appendicitis arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthropathy atherosclerosis atrial fibrillation bacterial sepsis breast cancer breast carcinoma cancer cardiac arrest cardiovascular system disease cerebral degeneration cerebral infarction cerebrovascular disease childhood acute lymphocytic leukemia cholecystolithiasis choledocholithiasis cholelithiasis chromophobe renal cell carcinoma chronic kidney disease chronic obstructive pulmonary disease ciliary body 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 essential hypertension familial adenomatous polyposis familial hypercholesterolemia gastroschisis head and neck cancer heart disease hepatocellular carcinoma hiatus hernia human immunodeficiency virus infectious disease hypertension hypospadias impotence inflammatory bowel disease 1 inflammatory bowel disease insulinoma iris disease islet cell tumor kidney failure large intestine cancer laryngeal benign neoplasm laryngeal carcinoma larynx cancer liver cancer major depressive disorder melancholic depression 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 pancreatic adenocarcinoma pancreatic cancer panuveitis papillary renal cell carcinoma peripheral artery disease pneumonia premature ejaculation 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 schizophrenia septic arthritis silent myocardial infarction situs inversus spinal cancer spindle cell sarcoma spondylolisthesis 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 system benign neoplasm urinary system cancer uterine corpus cancer uveitis
23646	phospholipase D family member 3	PLD3 HU-K4	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 Henoch-Schoenlein purpura Pick's disease Reye syndrome amyloidosis atopic dermatitis cerebral degeneration congenital nystagmus conjunctival folliculosis conjunctivitis dermatitis dissociated nystagmus hypersensitivity vasculitis keratitis keratoconjunctivitis pathologic nystagmus rheumatoid arthritis scleroderma shipyard eye spinocerebellar ataxia 46 spontaneous ocular nystagmus systemic scleroderma
23601	C-type lectin domain containing 5A	CLEC5A MDL-1	Japanese encephalitis Mycoplasma pneumoniae pneumonia arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy atherosclerosis bone osteosarcoma brain glioblastoma multiforme central nervous system cancer cholesteatoma dengue disease dengue hemorrhagic fever giant cell glioblastoma glioblastoma gliosarcoma high grade glioma mixed glioma osteoarthritis osteosarcoma polyp of middle ear viral infectious disease yellow fever
23600	alpha-methylacyl-CoA racemase	AMACR P504S RACE	B-cell lymphoma Barrett's esophagus Charcot-Marie-Tooth disease X-linked dominant 1 Charcot-Marie-Tooth disease X-linked dominant 6 Charcot-Marie-Tooth disease X-linked recessive 2 Charcot-Marie-Tooth disease X-linked recessive 3 Charcot-Marie-Tooth disease X-linked recessive 4 Charcot-Marie-Tooth disease X-linked recessive 5 Charcot-Marie-Tooth disease axonal type 2C Charcot-Marie-Tooth disease axonal type 2F Charcot-Marie-Tooth disease axonal type 2H Charcot-Marie-Tooth disease axonal type 2K Charcot-Marie-Tooth disease axonal type 2L Charcot-Marie-Tooth disease axonal type 2N Charcot-Marie-Tooth disease axonal type 2O Charcot-Marie-Tooth disease axonal type 2P Charcot-Marie-Tooth disease axonal type 2Q Charcot-Marie-Tooth disease axonal type 2T Charcot-Marie-Tooth disease axonal type 2U Charcot-Marie-Tooth disease dominant intermediate A Charcot-Marie-Tooth disease dominant intermediate B Charcot-Marie-Tooth disease dominant intermediate C Charcot-Marie-Tooth disease dominant intermediate D Charcot-Marie-Tooth disease dominant intermediate E Charcot-Marie-Tooth disease dominant intermediate F Charcot-Marie-Tooth disease recessive intermediate B Charcot-Marie-Tooth disease recessive intermediate C Charcot-Marie-Tooth disease recessive intermediate D Charcot-Marie-Tooth disease type 1A Charcot-Marie-Tooth disease type 1B Charcot-Marie-Tooth disease type 1C Charcot-Marie-Tooth disease type 1D Charcot-Marie-Tooth disease type 1E Charcot-Marie-Tooth disease type 1F Charcot-Marie-Tooth disease type 2 Charcot-Marie-Tooth disease type 2A1 Charcot-Marie-Tooth disease type 2A2A Charcot-Marie-Tooth disease type 2B1 Charcot-Marie-Tooth disease type 2B2 Charcot-Marie-Tooth disease type 2B Charcot-Marie-Tooth disease type 2D Charcot-Marie-Tooth disease type 2E Charcot-Marie-Tooth disease type 2I Charcot-Marie-Tooth disease type 2J Charcot-Marie-Tooth disease type 2R Charcot-Marie-Tooth disease type 2Y Charcot-Marie-Tooth disease type 3 Charcot-Marie-Tooth disease type 4A Charcot-Marie-Tooth disease type 4B1 Charcot-Marie-Tooth disease type 4B2 Charcot-Marie-Tooth disease type 4B3 Charcot-Marie-Tooth disease type 4C Charcot-Marie-Tooth disease type 4D Charcot-Marie-Tooth disease type 4E Charcot-Marie-Tooth disease type 4F Charcot-Marie-Tooth disease type 4G Charcot-Marie-Tooth disease type 4H Charcot-Marie-Tooth disease type 4J Charcot-Marie-Tooth disease type 4K Charcot-Marie-Tooth disease Ewing sarcoma Gilbert syndrome Japanese encephalitis Kawasaki disease Langerhans-cell histiocytosis MHC class II deficiency Marfan syndrome Rett syndrome acinar cell carcinoma acute myeloid leukemia adenocarcinoma adenoma adenosine deaminase deficiency agenesis of the corpus callosum with peripheral neuropathy alpha-methylacyl-CoA racemase deficiency atrial fibrillation atrophy of prostate bilirubin metabolic disorder bladder carcinoma blindness blood coagulation disease brain disease breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma cardiovascular system disease central nervous system cancer cerebral infarction cerebral primitive neuroectodermal tumor cerebrovascular disease cholestasis chondroma chondrosarcoma chromophobe renal cell carcinoma chronic kidney disease clear cell adenocarcinoma clear cell renal cell carcinoma collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma common wart cone-rod dystrophy congenital bile acid synthesis defect 4 congenital bile acid synthesis defect congestive heart failure cribriform carcinoma cutaneous fibrous histiocytoma dengue disease depressive disorder diabetes mellitus diffuse large B-cell lymphoma dysplastic nevus syndrome dysthymic disorder embryoma embryonal cancer epilepsy esophagus adenocarcinoma essential hypertension essential thrombocythemia follicular adenoma fundus albipunctatus gallbladder disease gastrointestinal stromal tumor germ cell and embryonal cancer germ cell cancer germinoma gliosarcoma granular cell carcinoma heart disease hepatocellular carcinoma hereditary neuropathy with liability to pressure palsies hidradenoma high grade glioma hypertension hypogonadism inflammatory bowel disease 1 inflammatory bowel disease inflammatory myofibroblastic tumor intrahepatic cholestasis kidney cancer kwashiorkor large intestine cancer lipoma liver cancer liver disease lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma major depressive disorder marasmus mastitis medulloblastoma medulloepithelioma melancholic depression melanoma microcystic adenoma migraine mixed glioma motor neuritis motor peripheral neuropathy multiple sclerosis multiple symmetric lipomatosis myelodysplastic syndrome nasopharynx carcinoma neuritis neuroblastoma neuroectodermal tumor neuroendocrine carcinoma neuropathy neurotic disorder nodular prostate nonpapillary renal cell carcinoma nutrition disease obesity obsolete embryonal Tumor with Multilayered Rosettes, C19MC-Altered obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum obsolete inherited blood coagulation disease obsolete melancholia obsolete ymphosarcoma oxyphilic adenoma pancreatic cancer pancreatitis papillary adenocarcinoma papillary adenoma papillary renal cell carcinoma papilloma peripheral nervous system disease peroxisomal disease pleomorphic lipoma primary cutaneous amyloidosis prostate adenocarcinoma prostate cancer prostate carcinoma in situ prostate carcinoma prostatic adenoma protein-energy malnutrition renal carcinoma renal cell carcinoma renal oncocytoma retinitis pigmentosa rheumatoid arthritis sarcomatoid carcinoma sarcomatoid renal cell carcinoma schizophrenia severe combined immunodeficiency situs inversus skin melanoma skin papilloma skin tag squamous cell carcinoma squamous cell papilloma status epilepticus supratentorial primitive neuroectodermal tumor syringoma thyroid adenoma thyroid cancer thyroid gland carcinoma thyroid gland papillary carcinoma tongue squamous cell carcinoma tuberculosis tuberous sclerosis 1 tuberous sclerosis tubular adenocarcinoma type 2 diabetes mellitus ulcerative colitis urinary bladder cancer viral infectious disease visual epilepsy yellow fever
23583	single-strand-selective monofunctional uracil-DNA glycosylase 1	SMUG1 FDG HMUDG UNG3	ACTH-secreting pituitary adenoma 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 3 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease B-cell lymphoma Barrett's esophagus Beckwith-Wiedemann syndrome Bell's palsy Bloch-Sulzberger syndrome Burkitt lymphoma CLOVES syndrome Castleman disease Clouston syndrome Creutzfeldt-Jakob disease Cri-Du-Chat syndrome Crohn's colitis Crohn's disease De Quervain disease Erdheim-Chester disease Ewing sarcoma of bone Ewing sarcoma Fabry disease Fleck corneal dystrophy Goodpasture syndrome Gorham's disease Graves' disease Grn-related frontotemporal lobar degeneration with Tdp43 inclusions HCL-V Hodgkin's granuloma Hodgkin's lymphoma, lymphocytic depletion Hodgkin's lymphoma, lymphocytic-histiocytic predominance Hodgkin's lymphoma, mixed cellularity Hodgkin's lymphoma Huntington's disease-like 1 Huntington's disease-like 2 Huntington's disease IgG4-related disease Japanese encephalitis Kimura disease Klatskin's tumor Kleine-Levin syndrome Langerhans-cell histiocytosis Lewy body dementia Leydig cell tumor Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Perlman syndrome Peutz-Jeghers syndrome Pick's disease Prinzmetal angina Q fever REM sleep behavior disorder Reye syndrome Richter's syndrome SAPHO syndrome Sotos syndrome T-cell acute lymphoblastic leukemia Takayasu's arteritis Tietze's syndrome VIPoma Venezuelan equine encephalitis Wernicke encephalopathy X-linked ichthyosis abdominal aortic aneurysm acoustic neuroma acquired immunodeficiency syndrome acquired polycythemia acute biphenotypic leukemia acute chest syndrome acute intermittent porphyria acute interstitial pneumonia acute leukemia acute lymphoblastic leukemia acute myeloid leukemia acute myocardial infarction acute myocarditis acute pancreatitis acute pyelonephritis adenocarcinoma in situ adenocarcinoma adenoid cystic carcinoma adenoma adrenal adenoma adrenal cortex cancer adrenal gland cancer adrenal gland hyperfunction adult extraosseous osteosarcoma adult liposarcoma adult lymphoma adult malignant schwannoma adult respiratory distress syndrome adult-onset Still's disease age related macular degeneration alkaptonuria alternating hemiplegia of childhood alveolar echinococcosis alveolar rhabdomyosarcoma amnestic disorder amyloidosis amyotrophic lateral sclerosis amyotrophic neuralgia anal canal carcinoma anal carcinoma in situ anal carcinoma anal margin carcinoma anal margin squamous cell carcinoma anal squamous cell carcinoma anaplastic astrocytoma androgen insensitivity syndrome angioedema angioimmunoblastic T-cell lymphoma angiokeratoma angiomatous meningioma angiomyolipoma angiosarcoma anus benign neoplasm anus cancer anxiety disorder aortic aneurysm aortitis aplastic anemia appendicitis arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arteriovenous malformation arthritis arthropathy ascending cholangitis atherosclerosis atrial fibrillation atrioventricular block attention deficit hyperactivity disorder atypical teratoid rhabdoid tumor autoimmune disease autoimmune hepatitis autoimmune lymphoproliferative syndrome type 2A autoimmune lymphoproliferative syndrome type 2B autoimmune lymphoproliferative syndrome type 3 autoimmune lymphoproliferative syndrome autoimmune pancreatitis autonomic neuropathy autosomal dominant polycystic kidney disease autosomal recessive nonsyndromic deafness 4 bacterial infectious disease basal cell carcinoma benign fibrous mesothelioma benign meningioma benign mesothelioma benign peritoneal mesothelioma bile duct adenocarcinoma bile duct carcinoma biliary tract cancer bipolar disorder bladder carcinoma blindness bone cancer bone lymphoma bone marrow disease bone osteosarcoma brachial plexus lesion brachial plexus neuritis brachial plexus neuropathy brain cancer brain disease breast adenocarcinoma breast angiosarcoma breast cancer breast carcinoma breast ductal carcinoma breast lymphoma breast mucinous carcinoma bronchus cancer bronchus carcinoma cancer carcinoma carcinosarcoma cardiac sarcoidosis cardiac tamponade cardiomyopathy cardiovascular system disease carotid artery thrombosis carotid stenosis cat-scratch disease causalgia central nervous system cancer central nervous system disease central nervous system lymphoma cerebral cavernous malformation 2 cerebral cavernous malformation 3 cerebral convexity meningioma cerebral degeneration cerebral infarction cerebral lymphoma cerebrovascular disease cervical adenocarcinoma cervical cancer cervical squamous cell carcinoma cervix carcinoma cervix uteri carcinoma in situ cherubism chikungunya childhood angiosarcoma childhood cerebral astrocytoma childhood germ cell cancer childhood kidney cell carcinoma childhood liposarcoma childhood lymphoma childhood malignant schwannoma childhood osteosarcoma childhood type dermatomyositis cholangiocarcinoma cholangitis cholecystolithiasis choledochal cyst choledocholithiasis cholelithiasis chondroma chondrosarcoma choreatic disease choriocarcinoma chromophobe renal cell carcinoma chromosome 10q23 deletion syndrome chronic fatigue syndrome chronic kidney disease chronic lymphocytic leukemia chronic obstructive pulmonary disease chylomicron retention disease ciliary body disease clear cell meningioma clear cell renal cell carcinoma clitoris cancer cloacogenic carcinoma cocaine abuse cocaine dependence cognitive disorder colitis collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma common variable immunodeficiency common wart complement deficiency complex partial epilepsy congenital generalized lipodystrophy type 1 congenital generalized lipodystrophy type 2 congenital generalized lipodystrophy type 3 congenital generalized lipodystrophy type 4 congenital heart disease congenital hypothyroidism congestive heart failure connective tissue benign neoplasm constrictive pericarditis coronary artery disease coronary thrombosis cribriform carcinoma cryptococcosis cutaneous Paget's disease cutaneous fibrous histiocytoma deafness-dystonia-optic neuronopathy syndrome degeneration of macula and posterior pole dementia dengue disease dengue hemorrhagic fever depressive disorder dermatomyositis dermatophytosis developmental and epileptic encephalopathy 1 diabetes mellitus diabetic ketoacidosis differentiated thyroid gland carcinoma diffuse large B-cell lymphoma dilated cardiomyopathy 1A dilated cardiomyopathy discitis disease of mental health disease of metabolism distal arthrogryposis duodenum cancer dysplastic nevus syndrome dysthymic disorder dystonia early infantile epileptic encephalopathy ectopic Cushing syndrome embryoma embryonal cancer encephalitis encephalomyelitis endemic goiter endocarditis endometrial adenocarcinoma endometrial cancer endometrial carcinoma endomyocardial fibrosis enlarged vestibular aqueduct enophthalmos enterocele epilepsy epithelioid leiomyosarcoma epithelioid malignant peripheral nerve sheath tumor epithelioid sarcoma erythropoietin polycythemia esophageal cancer esophageal carcinoma esophagus adenocarcinoma esophagus squamous cell carcinoma essential hypertension essential tremor exanthem exostosis external ear disease extramedullary plasmacytoma extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue extraosseous osteosarcoma facial nerve disease facial paralysis familial adenomatous polyposis 1 familial adenomatous polyposis familial erythrocytosis 2 familial hemophagocytic lymphohistiocytosis 1 familial hypertrophic cardiomyopathy familial periodic paralysis fibrillary astrocytoma fibrous dysplasia fibrous histiocytoma fibrous meningioma focal epilepsy focal hand dystonia follicular adenoma follicular lymphoma frontotemporal dementia fungal infectious disease gallbladder cancer gallbladder carcinoma gallbladder disease gastric adenocarcinoma gastric lymphoma gastritis gastroenteritis gastroesophageal junction adenocarcinoma gastrointestinal stromal tumor gemistocytic astrocytoma generalized anxiety disorder generalized dystonia germ cell and embryonal cancer germ cell cancer germinoma gestational trophoblastic neoplasm giant cell glioblastoma glioblastoma gliosarcoma glomerulonephritis goiter granular cell carcinoma granulomatosis with polyangiitis gynecomastia hairy cell leukemia head and neck cancer head and neck squamous cell carcinoma heart aneurysm heart cancer heart disease hemangioblastoma hematopoietic system disease hemolytic anemia hemopericardium hemophagocytic lymphohistiocytosis hemophilia B hepatic coma hepatic encephalopathy hepatitis hepatoblastoma hepatocellular carcinoma hereditary angioedema hereditary lymphedema I hereditary lymphedema IA hereditary lymphedema high grade glioma human immunodeficiency virus infectious disease hypercalcemia hyperglycemia hyperlipoproteinemia type III hyperparathyroidism hypertension hyperthyroidism hypertrophic cardiomyopathy hypertrophy of breast hypomelanosis of Ito hypopharynx cancer hypothyroidism idiopathic interstitial pneumonia idiopathic pulmonary fibrosis idiopathic scoliosis ileitis ileocolitis immune system disease inclusion conjunctivitis infant gynecomastia infantile myofibromatosis infective endocarditis inflammatory and toxic neuropathy inflammatory bowel disease 1 inflammatory bowel disease inflammatory myofibroblastic tumor interstitial lung disease intracranial abscess intracranial sinus thrombosis intrahepatic cholangiocarcinoma intraorbital meningioma intraventricular meningioma invasive ductal carcinoma invasive malignant thymoma iris disease ischemic colitis islet cell tumor juvenile pilocytic astrocytoma juvenile polyposis syndrome keratosis follicularis kidney angiomyolipoma kidney cancer kidney disease kidney failure kwashiorkor large intestine cancer laryngeal benign neoplasm laryngeal carcinoma laryngeal disease larynx cancer lateral meningocele syndrome leiomyoma leiomyosarcoma lipid pneumonia lipid storage disease lipoatrophic diabetes mellitus lipodystrophy lipoma liposarcoma liver cancer liver carcinoma liver cirrhosis liver disease liver leiomyosarcoma lobular neoplasia localized osteosarcoma luminal breast carcinoma A lung abscess lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung disease lung non-small cell carcinoma lung oat cell carcinoma lung small cell carcinoma lymph node tuberculosis lymphangiosarcoma lymphedema lymphoblastic lymphoma lymphoepithelioma-like carcinoma lymphoma lymphoplasmacytic lymphoma lymphoproliferative syndrome 1 lymphoproliferative syndrome 2 macroglobulinemia macular degeneration major depressive disorder male breast cancer malignant astrocytoma malignant epithelioid hemangioendothelioma malignant granular cell myoblastoma malignant melanocytic neoplasm of the peripheral nerve sheath malignant mesothelioma malignant peripheral nerve sheath tumor malignant pleural mesothelioma malignant spiradenoma malignant teratoma mantle cell lymphoma marasmus mediastinal malignant lymphoma mediastinum leiomyosarcoma melancholic depression melanoma meningeal melanomatosis meningioma meningothelial meningioma microcystic adenoma microcystic meningioma microinvasive gastric cancer microphthalmia middle cerebral artery infarction mixed glioma mongolian spot morphine dependence motor neuritis mucinous adenocarcinoma mucopolysaccharidosis IV multicentric reticulohistiocytosis multidrug-resistant tuberculosis multiple endocrine neoplasia type 1 multiple epiphyseal dysplasia multiple myeloma mycosis fungoides myelitis myeloproliferative disorder with eosinophilia myocardial infarction myocardial stunning myocarditis myoepithelial carcinoma myofibroma myopathy myositis myxedema myxoid leiomyosarcoma myxoid liposarcoma nasal cavity carcinoma nasopharyngitis nasopharynx carcinoma nephritis nephrocalcinosis nervous system disease neurilemmoma neuritis neuroblastoma neurodegenerative disease neuroendocrine carcinoma neuroendocrine tumor neurofibroma neurofibromatosis 1 neurofibromatosis neurofibrosarcoma neurogenic arthropathy neurotic disorder newborn respiratory distress syndrome nodular nonsuppurative panniculitis non-Hodgkin lymphoma nonpapillary renal cell carcinoma normal pressure hydrocephalus nutmeg liver nutrition disease obesity obsolete Cushing's syndrome obsolete Matthew-Wood syndrome obsolete Opitz-GBBB syndrome obsolete exophthalmos obsolete hilar cholangiocellular carcinoma obsolete lymphoplasmacytic lymphoma obsolete melancholia obsolete ymphosarcoma ochronosis olfactory groove meningioma olfactory neuroblastoma orbital disease oropharynx cancer osteitis fibrosa osteoarthritis osteochondrodysplasia osteomyelitis osteoporosis osteosarcoma otitis externa ovarian cancer ovarian carcinoma ovary adenocarcinoma oxyphilic adenoma pancreatic adenocarcinoma pancreatic cancer pancreatic carcinoma pancreatic cholera pancreatic ductal adenocarcinoma pancreatic intraductal papillary-mucinous neoplasm pancreatitis panniculitis panuveitis papillary adenocarcinoma papillary adenoma papillary carcinoma papillary renal cell carcinoma paraganglioma parapsoriasis parasagittal meningioma parathyroid adenoma parathyroid carcinoma partial motor epilepsy peliosis hepatis penile benign neoplasm penile cancer penis carcinoma pericardial effusion pericarditis perineurioma peripheral T-cell lymphoma peripheral nerve sheath neoplasm peripheral nervous system neoplasm peritoneal mesothelioma periventricular nodular heterotopia pheochromocytoma phobic disorder phosphorus metabolism disease phototoxic dermatitis pilocytic astrocytoma pituitary adenoma pituitary cancer pituitary carcinoma pituitary-dependent Cushing's disease plasmacytoma pleomorphic lipoma pleomorphic liposarcoma plexiform neurofibroma pneumonia pneumothorax polyarteritis nodosa polycystic kidney disease 1 polycythemia vera polycythemia polymyalgia rheumatica portal vein thrombosis post-traumatic stress disorder postinflammatory pulmonary fibrosis primary hyperaldosteronism primary hyperoxaluria primary sclerosing cholangitis prion disease progressive muscular atrophy progressive supranuclear palsy prostate cancer prostate carcinoma prostatitis protein-energy malnutrition protoplasmic astrocytoma psammomatous meningioma pseudomyxoma peritonei pseudoxanthoma elasticum psoriasis psychotic disorder pulmonary coin lesion pulmonary fibrosis pulmonary sarcoidosis pulmonary sclerosing hemangioma pulmonary tuberculosis purpura pustulosis of palm and sole rectal benign neoplasm rectum adenocarcinoma rectum cancer recurrent hypersomnia refractory plasma cell neoplasm relapsing polychondritis renal carcinoma renal cell carcinoma renal pelvis squamous cell carcinoma reticulosarcoma retrograde amnesia retroperitoneal sarcoma rhabdoid cancer rhabdomyosarcoma rheumatoid arthritis salivary gland adenoid cystic carcinoma sarcoidosis sarcoma sarcomatoid carcinoma sarcomatoid renal cell carcinoma schizoaffective disorder schizophrenia schizophreniform disorder scleroderma sclerosing cholangitis sebaceous carcinoma secondary Parkinson disease secretory meningioma seminoma septic arthritis sick sinus syndrome sickle cell anemia silent myocardial infarction skin epithelioid hemangioma skin melanoma skin pilomatrix carcinoma skin squamous cell carcinoma sleeping sickness small intestine adenocarcinoma small intestine cancer smooth muscle tumor spermatic cord torsion spinal cancer spinal cord disease spinal meningioma spindle cell sarcoma spondylitis spondyloarthropathy squamous cell carcinoma steatotic liver disease stomach cancer stomach carcinoma stress polycythemia struma ovarii subacute bacterial endocarditis subacute lymphocytic thyroiditis subacute thyroiditis subependymal giant cell astrocytoma substernal goiter suppurative cholangitis sweat gland cancer sweat gland carcinoma syndromic X-linked intellectual disability type 10 synovial sarcoma synovitis syringomyelia systemic Epstein-Barr virus positive T-cell lymphoma of childhood systemic lupus erythematosus systemic scleroderma temporal arteritis temporal lobe epilepsy tenosynovitis teratoma tertiary neurosyphilis tertiary syphilis testicular cancer testicular germ cell cancer testicular malignant germ cell cancer testis seminoma thrombophilia thymic carcinoma thymoma thyroid adenoma thyroid cancer thyroid gland carcinoma thyroid gland disease thyroid gland medullary carcinoma thyroid gland papillary carcinoma thyrotoxicosis tongue squamous cell carcinoma tonsil cancer tracheal disease transitional cell carcinoma transitional meningioma trypanosomiasis tuberculosis tuberculous pneumothorax tubular adenocarcinoma type 2 diabetes mellitus type C thymoma typhus ulcerative colitis uremia urinary bladder cancer uterine carcinosarcoma uterine corpus cancer uterine corpus sarcoma uterine fibroid uterus leiomyosarcoma uveitis uveoparotid fever vaginal cancer vascular cancer vascular disease vasculitis viral infectious disease viral meningitis visceral leishmaniasis visual epilepsy von Hippel-Lindau disease vulva cancer vulva carcinoma xeroderma pigmentosum group A xeroderma pigmentosum group B xeroderma pigmentosum group C xeroderma pigmentosum group D xeroderma pigmentosum group E xeroderma pigmentosum group F xeroderma pigmentosum group G xeroderma pigmentosum variant type xeroderma pigmentosum yellow fever
23563	carbohydrate sulfotransferase 5	CHST5 FLJ22167 I-GLCNAC-6-ST	adenocarcinoma adenoma cribriform carcinoma granular cell carcinoma tubular adenocarcinoma
23556	phosphatidylinositol glycan anchor biosynthesis class N	PIGN GPI ethanolamine phosphate transferase 1 MCD4 PIG-N	Dandy-Walker syndrome Hirschsprung's disease Marfan syndrome Meckel syndrome Miller-Dieker lissencephaly syndrome Paget's disease of bone acute monocytic leukemia acute myeloid leukemia amblyopia 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 polycystic kidney disease basal ganglia disease blepharitis blepharospasm cerebral degeneration chromosome 17p13.1 deletion syndrome chronic recurrent multifocal osteomyelitis cleft palate colorectal cancer colorectal carcinoma congenital diaphragmatic hernia congenital nystagmus cryptorchidism dissociated nystagmus duodenal atresia epilepsy esophagitis esotropia essential thrombocythemia focal hand dystonia gastroesophageal reflux disease gingival hypertrophy gingival overgrowth heart septal defect holoprosencephaly 1 holoprosencephaly hydrocephalus hydronephrosis hypospadias idiopathic interstitial pneumonia imperforate anus intellectual disability isolated cleft palate large intestine cancer learning disability lingual-facial-buccal dyskinesia lissencephaly lung adenocarcinoma lung cancer mammary Paget's disease microphthalmia monocular esotropia movement disease multiple congenital anomalies-hypotonia-seizures syndrome 1 myelodysplastic syndrome omphalocele patent ductus arteriosus patent foramen ovale pathologic nystagmus peptic esophagitis polyhydramnios postinflammatory pulmonary fibrosis primary pulmonary hypertension pulmonary fibrosis recurrent corneal erosion renal agenesis situs inversus spontaneous ocular nystagmus strabismic amblyopia tetralogy of Fallot tuberous sclerosis umbilical hernia vesicoureteral reflux visual epilepsy
23553	hyaluronidase 4	HYAL4	oxyphilic adenoma renal oncocytoma
23545	ATPase H+ transporting V0 subunit a2	ATP6V0A2 ATP6N1D ATP6a2 J6B7 RTF Stv1 TJ6 TJ6M TJ6s V-ATPase subunit a2 V-type proton ATPase 116 kDa subunit a2 Vph1 a2 a2V infantile malignant osteopetrosis regeneration and tolerance factor	Crohn's colitis Crohn's disease Dandy-Walker syndrome Ehlers-Danlos syndrome Hailey-Hailey disease Joubert syndrome Laron syndrome Miller-Dieker lissencephaly syndrome Rothmund-Thomson syndrome achondroplasia agnosia alopecia aortic valve disease 1 aortic valve disease 2 aortic valve stenosis arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis 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 autosomal recessive osteopetrosis 1 autosomal recessive osteopetrosis 7 bacterial sepsis bicuspid aortic valve disease bone disease breast cancer breast carcinoma cancer cartilage disease clubfoot complex cortical dysplasia with other brain malformations 1 complex cortical dysplasia with other brain malformations 7 congenital disorder of glycosylation Il congenital disorder of glycosylation type I congenital disorder of glycosylation congenital generalized lipodystrophy type 1 congenital generalized lipodystrophy type 2 congenital generalized lipodystrophy type 3 congenital generalized lipodystrophy type 4 connective tissue disease coronary artery disease cortical dysplasia-focal epilepsy syndrome cryptococcosis cryptorchidism cutis laxa dementia dental caries dentin caries developmental coordination disorder diabetic cataract diabetic retinopathy encephalitis encephalomyelitis epilepsy essential hypertension generalized atherosclerosis geroderma osteodysplasticum giant cell glioblastoma glioblastoma gliosarcoma high grade glioma hydranencephaly hypertension hypertropia inflammatory bowel disease 1 inflammatory bowel disease inguinal hernia intellectual disability intracranial aneurysm learning disability lipoatrophic diabetes mellitus lipodystrophy lissencephaly lung disease mal de Meleda male infertility mechanical strabismus microcephaly mixed glioma myelitis myopia omphalocele ophthalmoplegia osteogenesis imperfecta osteopetrosis osteosclerosis placental insufficiency platelet-type bleeding disorder 11 platelet-type bleeding disorder 3 platelet-type bleeding disorder 8 platelet-type bleeding disorder 9 pontocerebellar hypoplasia type 2D pontocerebellar hypoplasia type 7 pontocerebellar hypoplasia type 8 pontocerebellar hypoplasia type 9 pulmonary emphysema renal tubular acidosis restrictive dermopathy scoliosis septooptic dysplasia short-rib thoracic dysplasia 14 with polydactyly status epilepticus strabismus syndromic X-linked intellectual disability Najm type ulcerative colitis umbilical hernia visual epilepsy von Willebrand's disease wrinkly skin syndrome
23516	solute carrier family 39 member 14	SLC39A14	hypermanganesemia with dystonia 2
23509	protein O-fucosyltransferase 1	POFUT1 FUT12 GDP-fucose protein O-fucosyltransferase 1 KIAA0180 O-FUT O-Fuc-T peptide-O-fucosyltransferase	Dowling-Degos disease acrodermatitis actinic keratosis acute myocardial infarction bone marrow cancer breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma chronic obstructive pulmonary disease colorectal cancer colorectal carcinoma congestive heart failure coronary artery anomaly coronary thrombosis dermatitis gallbladder disease hepatocellular carcinoma invasive ductal carcinoma large intestine cancer liver cancer liver disease lung benign neoplasm lung cancer lung carcinoma microcephaly myeloproliferative neoplasm myocardial infarction reticulate acropigmentation of Kitamura schizophrenia seborrheic keratosis silent myocardial infarction skin disease
23483	TDP-glucose 4,6-dehydratase	TGDS SDR2E1 TDPGD short chain dehydrogenase/reductase family 2E, member 1	Alzheimer's disease Catel Manzke syndrome Laron syndrome Marfan syndrome achondroplasia 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 cleft lip cleft palate clubfoot cryptorchidism cystic lymphangioma dementia depressive disorder dextrocardia dysthymic disorder epilepsy hydrocephalus inguinal hernia isolated cleft palate major depressive disorder melancholic depression neurotic disorder obsolete melancholia omphalocele otitis media patent foramen ovale placental insufficiency scoliosis situs inversus temtamy preaxial brachydactyly syndrome tuberous sclerosis umbilical hernia ventricular septal defect visual epilepsy
23475	quinolinate phosphoribosyltransferase	QPRT QPRTase nicotinate-nucleotide pyrophosphorylase (carboxylating)	Huntington's disease-like 1 Huntington's disease-like 2 Huntington's disease acute myeloid leukemia adenoma adenosarcoma endemic goiter follicular adenoma gliosarcoma hepatitis C high grade glioma microcystic adenoma mixed glioma nephroblastoma neuroblastoma neurodegenerative disease papillary adenoma substernal goiter thyroid adenoma thyroid cancer thyroid gland carcinoma thyroid gland follicular carcinoma

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