GlyCosmos Portal

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GlyCosmos Genes

Integrated list of glycan-related genes extracted KEGG GENES Database, UniProt, GlycoGene Database (GGDB), Plant GARDEN and FlyGlycoDB. Glycan-related genes including glycosyltransferase, hydrolase activity (acting on glycosyl bonds), carbohydrate metabolic process, etc .

Source	Last Updated
FlyGlycoDB	March 25, 2024
GlycoGene Database (GGDB)	January 26, 2018
KEGG GENES Database	September 20, 2023
Plant GARDEN	May 28, 2020
UniProt	July 8, 2024

Selecting the function you want to look up from the categories displays a list narrowed down to glycan-related genes with that function (Gene Ontology).

Catalytic activity

glycosyltransferase activity

hydrolase activity, acting on glycosyl bonds

Binding

carbohydrate binding

Response to carbohydrate

Primary metabolic process

Displaying entries **1376 - 1400** of **1582** in total

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Gene ID	Gene Name	Gene Symbol	Organism ▼	Disease Ontology
79966	stearoyl-CoA desaturase 5	SCD5 Aliases: ACOD4 FADS4 FLJ21032 HSCD5	Homo sapiens (human)	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 T-cell acute lymphoblastic leukemia acquired immunodeficiency syndrome age related macular degeneration ankylosing spondylitis arthritis arthropathy autosomal dominant nonsyndromic deafness 79 breast cancer cancer cardiomyopathy cerebral degeneration degeneration of macula and posterior pole depressive disorder diabetes mellitus embryoma endomyocardial fibrosis familial hypertrophic cardiomyopathy hepatocellular carcinoma human immunodeficiency virus infectious disease hypertrophic cardiomyopathy liver cancer macular degeneration melanoma osteoarthritis primary ciliary dyskinesia 1 primary ciliary dyskinesia primary immunodeficiency disease restrictive cardiomyopathy rheumatoid arthritis sickle cell anemia skin melanoma systemic lupus erythematosus systemic primary carnitine deficiency disease type 2 diabetes mellitus
6402	selectin L	SELL Aliases: CD62L LAM-1 LAM1 LSEL Leu-8 Lyam-1 PLNHR hLHRc	Homo sapiens (human)	Alzheimer's disease B-cell lymphoma Behcet's disease Burkitt lymphoma Clostridium difficile colitis Crohn's colitis Crohn's disease Graves' disease Hodgkin's granuloma Hodgkin's lymphoma, lymphocytic depletion Hodgkin's lymphoma, lymphocytic-histiocytic predominance Hodgkin's lymphoma, mixed cellularity Hodgkin's lymphoma IgA glomerulonephritis Langerhans-cell histiocytosis Richter's syndrome Sezary's disease St. Louis encephalitis T-cell acute lymphoblastic leukemia abdominal aortic aneurysm acquired immunodeficiency syndrome acute chest syndrome acute myeloid leukemia acute myocardial infarction acute pancreatitis adenoma adult T-cell leukemia/lymphoma adult-onset Still's disease age related macular degeneration allergic asthma anthracosilicosis arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy asbestosis asthma atherosclerosis autoimmune disease autoimmune lymphoproliferative syndrome bacterial sepsis bladder carcinoma brain cancer brucellosis bullous pemphigoid cancer celiac disease cerebral infarction cerebrovascular disease childhood leukemia chronic kidney disease chronic lymphocytic leukemia chronic myeloid leukemia chronic obstructive pulmonary disease colitis colon cancer colon carcinoma colonic benign neoplasm colorectal cancer coronary artery disease coronary thrombosis degeneration of macula and posterior pole diabetes mellitus diabetic angiopathy diabetic cataract diabetic ketoacidosis diabetic retinopathy diffuse large B-cell lymphoma disseminated intravascular coagulation duodenal ulcer embryoma end stage renal disease endometriosis of uterus endometriosis enthesopathy epidermolysis bullosa acquisita essential hypertension extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue fibromyalgia follicular adenoma gastric lymphoma gastritis gastroenteritis glomerulonephritis graft-versus-host disease head and neck squamous cell carcinoma hemochromatosis type 1 hemochromatosis hepatocellular carcinoma human immunodeficiency virus infectious disease hypereosinophilic syndrome hypertension hyperthyroidism ileitis ileocolitis immune system disease inflammatory bowel disease 1 inflammatory bowel disease influenza intrinsic asthma ischemia keratosis follicularis kidney disease kidney failure large intestine cancer leishmaniasis leukemia leukopenia liver cancer lymphangioleiomyomatosis lymphocytic choriomeningitis lymphoma macular degeneration melanoma melioidosis microcystic adenoma migraine mongolian spot multiple myeloma mycosis fungoides myocardial infarction nephritis nephrosis neuroendocrine carcinoma non-Hodgkin lymphoma nutmeg liver obsolete T-cell lymphoblastic leukemia/lymphoma obsolete type 1 diabetes mellitus 9 obsolete ymphosarcoma pancreatic adenocarcinoma pancreatitis papillary adenocarcinoma papillary adenoma papillary renal cell carcinoma paroxysmal nocturnal hemoglobinuria perinatal necrotizing enterocolitis periodontal disease periodontitis peripheral vascular disease pneumonia pre-eclampsia primary cutaneous T-cell non-Hodgkin lymphoma pseudoxanthoma elasticum psoriatic arthritis pulmonary tuberculosis purpura fulminans pyoureter reticulosarcoma rheumatoid arthritis schizophrenia scleroderma sickle cell anemia silent myocardial infarction silicosis skin melanoma steatotic liver disease stomach cancer systemic lupus erythematosus systemic scleroderma thyroid gland papillary carcinoma thyroiditis thyrotoxicosis toxic shock syndrome transient cerebral ischemia tropical spastic paraparesis tuberculosis tuberculous pneumothorax type 1 diabetes mellitus 10 type 1 diabetes mellitus 11 type 1 diabetes mellitus 12 type 1 diabetes mellitus 13 type 1 diabetes mellitus 15 type 1 diabetes mellitus 17 type 1 diabetes mellitus 18 type 1 diabetes mellitus 19 type 1 diabetes mellitus 20 type 1 diabetes mellitus 21 type 1 diabetes mellitus 22 type 1 diabetes mellitus 23 type 1 diabetes mellitus 24 type 1 diabetes mellitus 2 type 1 diabetes mellitus 3 type 1 diabetes mellitus 4 type 1 diabetes mellitus 5 type 1 diabetes mellitus 6 type 1 diabetes mellitus 7 type 1 diabetes mellitus 8 type 1 diabetes mellitus type 2 diabetes mellitus ulcerative colitis uremia urinary bladder cancer vascular disease vertebrobasilar insufficiency visceral leishmaniasis
8703	beta-1,4-galactosyltransferase 3	B4GALT3 Aliases: beta4Gal-T3	Homo sapiens (human)	bladder carcinoma cancer cervical adenocarcinoma cervical cancer cervix carcinoma colorectal cancer colorectal carcinoma embryoma large intestine cancer neuroblastoma primary open angle glaucoma urinary bladder cancer
847	catalase	CAT	Homo sapiens (human)	46,XY sex reversal 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 Barrett's esophagus Behcet's disease Bloom syndrome Burkitt lymphoma Carney complex 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 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 Clostridium difficile colitis Cockayne syndrome Cornelia de Lange syndrome Creutzfeldt-Jakob disease Crimean-Congo hemorrhagic fever Down syndrome Dubowitz syndrome Fanconi anemia complementation group A Fanconi anemia Friedreich ataxia 1 Friedreich ataxia Graves ophthalmopathy Graves' disease Grn-related frontotemporal lobar degeneration with Tdp43 inclusions Hailey-Hailey disease Hantavirus hemorrhagic fever with renal syndrome Huntington's disease-like 1 Huntington's disease-like 2 Huntington's disease Japanese encephalitis Kawasaki disease Langerhans-cell histiocytosis Leber hereditary optic neuropathy Marfan syndrome Meesmann corneal dystrophy Miles-Carpenter syndrome Noonan syndrome 10 Noonan syndrome 1 Noonan syndrome 2 Noonan syndrome 3 Noonan syndrome 4 Noonan syndrome 5 Noonan syndrome 6 Noonan syndrome 7 Noonan syndrome 8 Noonan syndrome 9 Noonan syndrome Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Pick's disease Prader-Willi syndrome Raynaud disease Refsum disease Rett syndrome Reye syndrome Robinow syndrome Rothmund-Thomson syndrome Scheie syndrome Seckel syndrome Silver-Russell syndrome St. Louis encephalitis Sveinsson chorioretinal atrophy T-cell acute lymphoblastic leukemia Turner syndrome WAGR syndrome Werner syndrome Wernicke-Korsakoff syndrome Wilson disease Wolman disease X-linked Aarskog syndrome X-linked chronic granulomatous disease Zellweger syndrome Zika fever abdominal aortic aneurysm abdominal obesity-metabolic syndrome 1 acatalasia acne acoustic neuroma acquired hyperkeratosis acrodermatitis actinic keratosis actinomycosis acute cholangitis acute intermittent porphyria acute lymphoblastic leukemia acute myeloid leukemia acute myocardial infarction acute pancreatitis adenocarcinoma adenoma adenosarcoma adrenal gland cancer adult T-cell leukemia/lymphoma adult acute lymphocytic leukemia adult lymphoma adult respiratory distress syndrome age related macular degeneration agenesis of the corpus callosum with peripheral neuropathy aggressive systemic mastocytosis agnosia alcohol dependence alcohol use disorder alcoholic liver cirrhosis allergic asthma allergic bronchopulmonary aspergillosis allergic rhinitis alpha 1-antitrypsin deficiency amnestic disorder amyloidosis amyotrophic lateral sclerosis type 1 amyotrophic lateral sclerosis type 2 amyotrophic lateral sclerosis type 4 amyotrophic lateral sclerosis anaplastic astrocytoma anemia angioedema angle-closure glaucoma animal phobia aniridia ankylosing spondylitis anterior horn cell disease anterolateral myocardial infarction anteroseptal myocardial infarction anthracosilicosis anthracosis antisocial personality disorder anxiety disorder aortic aneurysm aortic disease aortic valve insufficiency aphthous stomatitis arachnoiditis arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy asbestosis ascariasis ascaridiasis aspergillosis asphyxia neonatorum aspiration pneumonia aspiration pneumonitis asthma ataxia telangiectasia atherosclerosis atrial fibrillation atrial heart septal defect 1 atrial heart septal defect 2 atrial heart septal defect 3 atrial heart septal defect 4 atrial heart septal defect 5 atrial heart septal defect 6 atrial heart septal defect 7 atrial heart septal defect 8 atrial heart septal defect 9 atrial heart septal defect autism spectrum disorder autistic disorder autoimmune disease autoimmune hepatitis autoimmune lymphoproliferative syndrome autosomal dominant Robinow syndrome 1 autosomal dominant Robinow syndrome 2 autosomal dominant Robinow syndrome 3 autosomal dominant cerebellar ataxia autosomal dominant cutis laxa 1 autosomal dominant cutis laxa 2 autosomal dominant cutis laxa 3 autosomal dominant cutis laxa autosomal recessive Robinow syndrome 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 distal hereditary motor neuronopathy 1 azoospermia background diabetic retinopathy bacterial infectious disease bacterial pneumonia bacterial sepsis basal cell carcinoma benign mesothelioma bestrophinopathy beta thalassemia bile duct adenocarcinoma bile duct carcinoma bipolar disorder black piedra bladder carcinoma blood coagulation disease bone marrow cancer bone osteosarcoma brain cancer brain disease brain infarction brain ischemia brain stem infarction breast adenocarcinoma breast cancer breast carcinoma bronchopulmonary dysplasia bronchus cancer bronchus carcinoma byssinosis cancer carbamoyl phosphate synthetase I deficiency disease carcinoma cardiac arrest cardiomyopathy cardiovascular system disease cartilage-hair hypoplasia cataract cellular schwannoma central nervous system cancer central nervous system lymphoma central sleep apnea cerebellar ataxia cerebellar disease cerebral artery occlusion cerebral degeneration cerebral infarction cerebral malaria cerebral palsy cerebrovascular disease cervical adenocarcinoma cervical cancer cervix carcinoma cervix disease cervix uteri carcinoma in situ childhood acute lymphocytic leukemia childhood cerebral astrocytoma childhood lymphoma childhood osteosarcoma cholangiocarcinoma cholecystolithiasis choledocholithiasis cholelithiasis cholestasis chondrodysplasia-pseudohermaphroditism syndrome choriocarcinoma choroid plexus papilloma chromophobe renal cell carcinoma chronic closed-angle glaucoma chronic fatigue syndrome chronic granulomatous disease chronic kidney disease chronic myeloid leukemia chronic obstructive pulmonary disease chronic purulent otitis media chronic venous insufficiency clear cell renal cell carcinoma cleft palate coccidioidomycosis colitis collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma complement deficiency congenital hemolytic anemia congenital hypothyroidism congestive heart failure corneal disease coronary artery disease coronary thrombosis cribriform carcinoma critical illness polyneuropathy cutaneous anthrax cutaneous leishmaniasis cutis laxa cystic fibrosis cystitis cystoid macular edema deficiency anemia degeneration of macula and posterior pole delusional disorder dengue disease denture stomatitis depressive disorder dermatitis developmental coordination disorder diabetes mellitus diabetic angiopathy diabetic autonomic neuropathy diabetic cataract diabetic ketoacidosis diabetic neuropathy diabetic polyneuropathy diabetic retinopathy diffuse large B-cell lymphoma diffuse scleroderma dilated cardiomyopathy 1A dilated cardiomyopathy disease of metabolism distal arthrogryposis duodenum cancer duodenum disease dysthymic disorder embryoma encephalitis encephalomyelitis end stage renal disease endometrial cancer endometrial carcinoma endometriosis of uterus endometriosis endometritis endomyocardial fibrosis eosinophilia-myalgia syndrome epidermolysis bullosa dystrophica epilepsy erysipelas erythrasma esophageal disease essential hypertension extramedullary plasmacytoma exudative vitreoretinopathy 1 exudative vitreoretinopathy familial hyperlipidemia familial mediterranean fever familial periodic paralysis favism female stress incontinence fibrillary astrocytoma fibromyalgia focal epilepsy fragile X syndrome gallbladder cancer gallbladder carcinoma gastric adenocarcinoma gastric ulcer gastritis gastroenteritis gastrointestinal system disease gemistocytic astrocytoma generalized anxiety disorder gestational diabetes giant cell glioblastoma glioblastoma gliosarcoma glomerulonephritis glucocorticoid-remediable aldosteronism glucose intolerance goiter gonadal dysgenesis gonadoblastoma gonorrhea granular cell carcinoma granular corneal dystrophy 2 head and neck squamous cell carcinoma heart cancer heart disease hemiplegia hemochromatosis hemolytic-uremic syndrome hemopericardium hepatitis A hepatitis B hepatitis C hepatitis hepatoblastoma hepatocellular carcinoma hereditary elliptocytosis hereditary neuropathy with liability to pressure palsies hereditary sensory and autonomic neuropathy type 5 hereditary spherocytosis type 1 hereditary spherocytosis herpes simplex high grade glioma histoplasmosis holoprosencephaly 1 holoprosencephaly homocystinuria hyperglycemia hyperhomocysteinemia hypertension hyperthyroidism hypertrophic cardiomyopathy hyperuricemia hypochromic anemia hypothalamic disease hypothyroidism idiopathic interstitial pneumonia ileitis ileocolitis immune system disease inclusion body myositis infantile Refsum disease inflammatory and toxic neuropathy inflammatory bowel disease 1 inflammatory bowel disease insulinoma intellectual disability interstitial nephritis intestinal disease intrahepatic cholangiocarcinoma intraocular lymphoma intrinsic asthma iron metabolism disease irritable bowel syndrome isolated cleft palate juvenile pilocytic astrocytoma juvenile rheumatoid arthritis keratitis keratoacanthoma keratoconjunctivitis keratoconus keratosis kernicterus due to isoimmunization kernicterus kidney cancer kidney disease kidney failure kidney hypertrophy kwashiorkor large intestine cancer laryngeal benign neoplasm laryngeal carcinoma laryngeal squamous cell carcinoma larynx cancer late onset Parkinson's disease lateral sclerosis learning disability lesion of sciatic nerve leukopenia lichen disease lichen planus lipid storage disease listeriosis liver cancer liver cirrhosis localized scleroderma lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung disease lung non-small cell carcinoma lupus erythematosus lymphoma lysosomal acid lipase deficiency macrocytic anemia macular corneal dystrophy macular degeneration macular retinal edema major depressive disorder mal de Meleda malaria male infertility malignant astrocytoma malignant mesothelioma marasmus mast-cell sarcoma melancholic depression melanoma melanotic neurilemmoma meningioma meningitis meningoencephalitis microcephalic osteodysplastic primordial dwarfism type I microcephalic osteodysplastic primordial dwarfism type II microcephaly microcytic anemia middle cerebral artery infarction migraine with aura migraine without aura mitral valve stenosis mixed glioma mixed oligodendroglioma-astrocytoma mood disorder motor neuron disease motor peripheral neuropathy mucopolysaccharidosis I mucopolysaccharidosis II mucopolysaccharidosis III mucopolysaccharidosis IV mucopolysaccharidosis Ih mucopolysaccharidosis VI mucopolysaccharidosis mucosulfatidosis multiple myeloma multiple sclerosis myelitis myelofibrosis myeloproliferative neoplasm myocardial infarction myocardial stunning myopathy myotonic dystrophy type 1 myxedema neonatal jaundice neovascular inflammatory vitreoretinopathy nephritis nephroblastoma nephrolithiasis nephrosis neurilemmoma neuroblastoma neurocirculatory asthenia neurodegenerative disease neurofibromatosis neuropathy neurotic disorder newborn respiratory distress syndrome nodular prostate non-Hodgkin lymphoma nonpapillary renal cell carcinoma nutmeg liver nutrition disease obesity obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum obsolete inherited blood coagulation disease obsolete melancholia obsolete type 1 diabetes mellitus 9 obsolete ymphosarcoma obstructive lung disease optic neuritis osteoarthritis osteoglophonic dysplasia osteonecrosis osteoporosis osteosarcoma otitis media ovarian cancer ovarian carcinoma pancreatic adenocarcinoma pancreatic cancer pancreatic carcinoma pancreatitis papillary renal cell carcinoma papilloma parapsoriasis parathyroid gland disease parietal foramina partial motor epilepsy patent foramen ovale pemphigus pericardial effusion pericarditis perinatal necrotizing enterocolitis periodontal disease periodontitis peripheral nervous system disease peroxisomal disease peroxisome biogenesis disorder 1A peroxisome biogenesis disorder 7A peroxisome biogenesis disorder 8A personality disorder phenylketonuria pheochromocytoma phobic disorder photosensitive trichothiodystrophy phototoxic dermatitis pilocytic astrocytoma pituitary adenoma pityriasis rubra pilaris placenta cancer placental insufficiency plasmacytoma plexiform schwannoma pneumoconiosis pneumonia polycystic ovary syndrome polycythemia vera polyneuropathy post-traumatic stress disorder postinflammatory pulmonary fibrosis prediabetes syndrome preretinal fibrosis primary angle-closure glaucoma primary open angle glaucoma proctitis progeria progressive multifocal leukoencephalopathy progressive muscular atrophy proliferative diabetic retinopathy prostate cancer prostate carcinoma prostate disease prostatic adenoma protein-energy malnutrition protoplasmic astrocytoma pseudoxanthoma elasticum psoriasis pterygium pulmonary edema pulmonary embolism pulmonary emphysema pulmonary fibrosis purpura pustulosis of palm and sole pyelitis pyelonephritis pyoureter recessive dystrophic epidermolysis bullosa renal artery disease renal carcinoma renal cell carcinoma restrictive dermopathy reticulosarcoma retinal disease retinitis pigmentosa retinitis retinopathy of prematurity retrograde amnesia rheumatoid arthritis sarcoidosis sarcomatoid carcinoma sarcomatoid renal cell carcinoma scabies schizophrenia sciatic neuropathy scleroderma sebaceous carcinoma seborrheic dermatitis senile cataract sensorineural hearing loss sick sinus syndrome sickle cell anemia silent myocardial infarction situs inversus skin atrophy skin benign neoplasm skin cancer skin melanoma small intestine cancer social phobia spastic diplegia spastic monoplegia spastic quadriplegic cerebral palsy specific phobia spinal muscular atrophy spinal stenosis spinocerebellar ataxia type 1 spinocerebellar ataxia type 2 spondylocarpotarsal synostosis syndrome sporotrichosis squamous cell carcinoma squamous cell papilloma status epilepticus steatotic liver disease stomach cancer stomach carcinoma stomach disease stomatitis subacute bacterial endocarditis subependymal giant cell astrocytoma superficial mycosis superior mesenteric artery syndrome suppurative otitis media sweat gland cancer systemic lupus erythematosus systemic scleroderma teratocarcinoma thrombocytopenia thrombophilia thymic carcinoma thymoma thyroid adenoma thyroid cancer thyroid gland anaplastic carcinoma thyroid gland carcinoma thyroid gland disease thyroid gland papillary carcinoma thyrotoxicosis tongue squamous cell carcinoma toxic encephalopathy transient cerebral ischemia trigonitis tuberculosis tuberous sclerosis tubular adenocarcinoma tympanosclerosis 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 ulcerative stomatitis urea cycle disorder uremia ureteral obstruction uric acid nephrolithiasis urinary bladder cancer urticaria uterine corpus cancer uveoparotid fever varicocele variegate porphyria vascular disease vasomotor rhinitis vertebrobasilar insufficiency vestibular schwannomatosis viral infectious disease visual epilepsy vitiligo white piedra 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
6390	succinate dehydrogenase complex iron sulfur subunit B	SDHB Aliases: iron-sulfur subunit of complex II succinate dehydrogenase [ubiquinone] iron-sulfur subunit	Homo sapiens (human)	Alzheimer's disease Bannayan-Riley-Ruvalcaba syndrome Carney-Stratakis syndrome Clouston syndrome Coffin-Siris syndrome 1 Coffin-Siris syndrome Cowden syndrome Laron syndrome Leigh disease MELAS syndrome Marfan syndrome Peutz-Jeghers syndrome Richter's syndrome achondroplasia acoustic neuroma acute myocardial infarction adenocarcinoma adenoma adrenal adenoma adrenal carcinoma adrenal cortex cancer adrenal gland cancer adrenal gland disease adrenocortical carcinoma adult oligodendroglioma agnosia anemia angioedema angiomatous meningioma angiomyoma aniridia autistic disorder benign breast phyllodes tumor benign meningioma bilateral breast cancer bladder carcinoma blindness breast cancer breast carcinoma breast malignant phyllodes tumor cancer cardiomyopathy cataract 4 multiple types cataract central nervous system cancer cerebral convexity meningioma childhood kidney cell carcinoma childhood oligodendroglioma chondroma chromophobe renal cell carcinoma chronic lymphocytic leukemia chronic obstructive pulmonary disease clear cell meningioma clear cell renal cell carcinoma collecting duct carcinoma colon cancer colonic benign neoplasm colorectal cancer colorectal carcinoma cone-rod dystrophy congenital adrenal hyperplasia congenital nystagmus congestive heart failure cranial nerve disease cranial nerve palsy cribriform carcinoma cutaneous fibrous histiocytoma dementia developmental coordination disorder diabetic cataract diabetic retinopathy dilated cardiomyopathy 1A dilated cardiomyopathy dissociated nystagmus duodenum cancer embryoma endocrine gland cancer endometrial cancer endometrial carcinoma endomyocardial fibrosis epithelioid sarcoma esophageal cancer esophageal carcinoma essential hypertension exanthem familial adenomatous polyposis familial hypertrophic cardiomyopathy fibrous meningioma fissured tongue fundus albipunctatus gastrointestinal stromal tumor geographic tongue glomangioma glomerulonephritis glomus tumor goiter granular cell carcinoma gynecomastia head and neck cancer heart cancer hemangioblastoma hemangioma hepatocellular carcinoma hidradenoma high grade glioma hypercalcemia hyperparathyroidism hypertension hypertensive retinopathy hypertrophic cardiomyopathy hypertrophy of breast ileus in situ carcinoma infant gynecomastia insulinoma intellectual disability intestinal obstruction intracranial hypertension intraorbital meningioma intraventricular meningioma islet cell tumor kidney cancer kidney disease kwashiorkor large intestine cancer learning disability leiomyoma leukodystrophy lipoma liver cancer macrocytic anemia malignant pheochromocytoma marasmus melanoma meningioma meningothelial meningioma microcephaly microcystic meningioma mitochondrial complex II deficiency mitochondrial encephalomyopathy mitochondrial metabolism disease mitochondrial myopathy mixed oligodendroglioma-astrocytoma multiple endocrine neoplasia type 1 multiple endocrine neoplasia type 2A myofibrillar myopathy 1 myofibroma myopathy nephritis nephrocalcinosis neuroblastoma neuroendocrine carcinoma neuroendocrine tumor neurofibroma neurofibromatosis 1 neurofibromatosis nonepidermolytic palmoplantar keratoderma nonpapillary renal cell carcinoma nontoxic goiter nutrition disease obsolete constipation olfactory groove meningioma oligodendroglioma ophthalmoplegia osteitis fibrosa oxyphilic adenoma palmoplantar keratosis pancreatic adenocarcinoma panic disorder papillary adenocarcinoma papillary renal cell carcinoma papilloma paraganglioma parasagittal meningioma pathologic nystagmus peripheral nervous system neoplasm pheochromocytoma phosphorus metabolism disease pituitary adenoma placental insufficiency pleomorphic lipoma primary autosomal recessive microcephaly 1 prolactinoma protein-energy malnutrition proteinuria psammomatous meningioma pseudotumor cerebri renal artery obstruction renal carcinoma renal cell carcinoma renal osteodystrophy retinitis pigmentosa sarcoma sarcomatoid renal cell carcinoma scoliosis secretory meningioma sensorineural hearing loss situs inversus skin benign neoplasm skin cancer skin melanoma skin papilloma skin tag small intestine benign neoplasm small intestine cancer spinal meningioma spindle cell sarcoma spontaneous ocular nystagmus squamous cell papilloma stomach cancer stomach carcinoma syringoma thyroid adenoma thyroid cancer thyroid gland carcinoma thyroid gland disease thyroid gland follicular carcinoma thyroid gland medullary carcinoma thyroid gland papillary carcinoma transitional meningioma tuberous sclerosis 1 tuberous sclerosis tubular adenocarcinoma type 2 diabetes mellitus urinary bladder cancer urticaria uterine corpus cancer uterine fibroid vesicoureteral reflux von Hippel-Lindau disease
727936	glucoside xylosyltransferase 2	GXYLT2	Homo sapiens (human)
51763	inositol polyphosphate-5-phosphatase K	INPP5K Aliases: SKIP skeletal muscle and kidney enriched inositol phosphatase	Homo sapiens (human)	Aicardi-Goutieres syndrome Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease Duchenne muscular dystrophy Gaucher's disease Laron syndrome Legg-Calve-Perthes disease Marinesco-Sjogren syndrome Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Pick's disease Reye syndrome achondroplasia agnosia anxiety disorder arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis autosomal dominant Emery-Dreifuss muscular dystrophy 2 autosomal dominant limb-girdle muscular dystrophy type 1 autosomal dominant limb-girdle muscular dystrophy type 1H autosomal dominant limb-girdle muscular dystrophy type 2 autosomal dominant limb-girdle muscular dystrophy type 3 autosomal dominant limb-girdle muscular dystrophy autosomal recessive limb-girdle muscular dystrophy type 2A autosomal recessive limb-girdle muscular dystrophy type 2B autosomal recessive limb-girdle muscular dystrophy type 2C autosomal recessive limb-girdle muscular dystrophy type 2D autosomal recessive limb-girdle muscular dystrophy type 2E autosomal recessive limb-girdle muscular dystrophy type 2F autosomal recessive limb-girdle muscular dystrophy type 2G autosomal recessive limb-girdle muscular dystrophy type 2H autosomal recessive limb-girdle muscular dystrophy type 2I autosomal recessive limb-girdle muscular dystrophy type 2J autosomal recessive limb-girdle muscular dystrophy type 2K autosomal recessive limb-girdle muscular dystrophy type 2L autosomal recessive limb-girdle muscular dystrophy type 2M autosomal recessive limb-girdle muscular dystrophy type 2N autosomal recessive limb-girdle muscular dystrophy type 2O autosomal recessive limb-girdle muscular dystrophy type 2P autosomal recessive limb-girdle muscular dystrophy type 2Q autosomal recessive limb-girdle muscular dystrophy type 2S autosomal recessive limb-girdle muscular dystrophy type 2T autosomal recessive limb-girdle muscular dystrophy type 2U autosomal recessive limb-girdle muscular dystrophy type 2Y autosomal recessive limb-girdle muscular dystrophy bladder carcinoma breast cancer breast carcinoma cancer cardiovascular system disease 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 cerebral degeneration cerebrovascular disease congenital muscular dystrophy with cataracts and intellectual disability congenital muscular dystrophy congenital nystagmus coronary artery disease dementia depressive disorder developmental coordination disorder disease of mental health disease of metabolism dissociated nystagmus distal myopathy dysplastic nevus syndrome dysthymic disorder dystonia epilepsy facioscapulohumeral muscular dystrophy familial periodic paralysis fragile X syndrome generalized anxiety disorder giant cell glioblastoma glioblastoma heart disease hepatocellular carcinoma high grade glioma hypertropia hypogonadism intellectual disability isolated elevated serum creatine phosphokinase levels learning disability limb-girdle muscular dystrophy lingual-facial-buccal dyskinesia liver cancer major depressive disorder mechanical strabismus melancholic depression melanoma microcephaly muscular dystrophy-dystroglycanopathy type B1 muscular dystrophy myofibrillar myopathy 1 myofibrillar myopathy 3 myopathy neuropathy neurotic disorder obsolete autosomal dominant limb-girdle muscular dystrophy type 1A obsolete autosomal dominant limb-girdle muscular dystrophy type 1B obsolete autosomal dominant limb-girdle muscular dystrophy type 1C obsolete autosomal recessive limb-girdle muscular dystrophy type 2R obsolete melancholia oculocerebrorenal syndrome oculopharyngeal muscular dystrophy ophthalmoplegia optic atrophy pathologic nystagmus peripheral nervous system disease phobic disorder phototoxic dermatitis primary cerebellar degeneration psychotic disorder rippling muscle disease 2 scoliosis skin benign neoplasm skin cancer skin carcinoma skin melanoma spontaneous ocular nystagmus stomach cancer stomach carcinoma strabismus tauopathy urinary bladder cancer
9563	hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase	H6PD Aliases: 6-phosphogluconolactonase GDH/6PGL endoplasmic bifunctional protein H6PDH	Homo sapiens (human)	Alzheimer's disease B-cell lymphoma Laron syndrome Zollinger-Ellison syndrome abdominal obesity-metabolic syndrome 1 achondroplasia acne aromatase excess syndrome arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis beta thalassemia breast cancer breast carcinoma cancer cardiovascular system disease cholangiocarcinoma colorectal cancer cone-rod dystrophy 2 cone-rod dystrophy coronary artery disease cortisone reductase deficiency 1 cortisone reductase deficiency dementia diabetes insipidus diabetes mellitus diabetic ketoacidosis diarrhea gallbladder disease giardiasis heart disease hemolytic anemia hyperandrogenism hyperinsulinism hypertrichosis hypoglycemia infertility intrahepatic cholangiocarcinoma large intestine cancer leishmaniasis liver disease luminal breast carcinoma A malaria multiple sclerosis neurohypophyseal diabetes insipidus obesity obsolete ymphosarcoma placental insufficiency polycystic ovary syndrome primary hyperoxaluria steatotic liver disease thalassemia type 2 diabetes mellitus visceral leishmaniasis
26033	attractin like 1	ATRNL1 Aliases: ALP FLJ45344 KIAA0534	Homo sapiens (human)	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
5631	phosphoribosyl pyrophosphate synthetase 1	PRPS1 Aliases: CMTX5 DFNX1 PPRibP PRS I PRS-I ribose-phosphate diphosphokinase 1	Homo sapiens (human)	Arts syndrome Charcot-Marie-Tooth disease X-linked dominant 1 Charcot-Marie-Tooth disease X-linked dominant 6 Charcot-Marie-Tooth disease X-linked recessive 2 Charcot-Marie-Tooth disease X-linked recessive 3 Charcot-Marie-Tooth disease X-linked recessive 4 Charcot-Marie-Tooth disease X-linked recessive 5 Charcot-Marie-Tooth disease axonal type 2C Charcot-Marie-Tooth disease axonal type 2F Charcot-Marie-Tooth disease axonal type 2H Charcot-Marie-Tooth disease axonal type 2K Charcot-Marie-Tooth disease axonal type 2L Charcot-Marie-Tooth disease axonal type 2N Charcot-Marie-Tooth disease axonal type 2O Charcot-Marie-Tooth disease axonal type 2P Charcot-Marie-Tooth disease axonal type 2Q Charcot-Marie-Tooth disease axonal type 2T Charcot-Marie-Tooth disease axonal type 2U Charcot-Marie-Tooth disease dominant intermediate A Charcot-Marie-Tooth disease dominant intermediate B Charcot-Marie-Tooth disease dominant intermediate C Charcot-Marie-Tooth disease dominant intermediate D Charcot-Marie-Tooth disease dominant intermediate E Charcot-Marie-Tooth disease dominant intermediate F Charcot-Marie-Tooth disease recessive intermediate B Charcot-Marie-Tooth disease recessive intermediate C Charcot-Marie-Tooth disease recessive intermediate D Charcot-Marie-Tooth disease type 1A Charcot-Marie-Tooth disease type 1B Charcot-Marie-Tooth disease type 1C Charcot-Marie-Tooth disease type 1D Charcot-Marie-Tooth disease type 1E Charcot-Marie-Tooth disease type 1F Charcot-Marie-Tooth disease type 2 Charcot-Marie-Tooth disease type 2A1 Charcot-Marie-Tooth disease type 2A2A Charcot-Marie-Tooth disease type 2B1 Charcot-Marie-Tooth disease type 2B2 Charcot-Marie-Tooth disease type 2B Charcot-Marie-Tooth disease type 2D Charcot-Marie-Tooth disease type 2E Charcot-Marie-Tooth disease type 2I Charcot-Marie-Tooth disease type 2J Charcot-Marie-Tooth disease type 2R Charcot-Marie-Tooth disease type 2Y Charcot-Marie-Tooth disease type 4A Charcot-Marie-Tooth disease type 4B1 Charcot-Marie-Tooth disease type 4B2 Charcot-Marie-Tooth disease type 4B3 Charcot-Marie-Tooth disease type 4C Charcot-Marie-Tooth disease type 4D Charcot-Marie-Tooth disease type 4E Charcot-Marie-Tooth disease type 4F Charcot-Marie-Tooth disease type 4G Charcot-Marie-Tooth disease type 4H Charcot-Marie-Tooth disease type 4J Charcot-Marie-Tooth disease type 4K Charcot-Marie-Tooth disease type X Charcot-Marie-Tooth disease Foster-Kennedy syndrome Laron syndrome Werner syndrome X-linked deafness 1 X-linked nonsyndromic deafness achondroplasia acute lymphoblastic leukemia adult acute lymphocytic leukemia agenesis of the corpus callosum with peripheral neuropathy agnosia alternating exotropia anaplastic astrocytoma blindness breast cancer breast carcinoma cancer carcinoma central sleep apnea childhood acute lymphocytic leukemia childhood cerebral astrocytoma coloboma colorectal cancer colorectal carcinoma communication disorder congenital nystagmus critical illness polyneuropathy developmental coordination disorder diabetes insipidus disease of metabolism dissociated nystagmus embryoma epilepsy exotropia fibrillary astrocytoma fundus dystrophy gemistocytic astrocytoma giant cell glioblastoma glioblastoma gout hepatocellular carcinoma hereditary neuropathy with liability to pressure palsies hereditary sensory and autonomic neuropathy type 2 high grade glioma hyperuricemia inflammatory and toxic neuropathy intellectual disability juvenile pilocytic astrocytoma kidney failure kwashiorkor language disorder large intestine cancer learning disability liver cancer locked-in syndrome malignant astrocytoma marasmus meningoencephalitis monocular exotropia motor peripheral neuropathy neuroblastoma neurodegeneration with brain iron accumulation neurohypophyseal diabetes insipidus neuropathy nutrition disease nutritional optic neuropathy obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum optic atrophy optic nerve disease pancreas disease paraplegia pathologic nystagmus peripheral nervous system disease phosphoribosylpyrophosphate synthetase superactivity pilocytic astrocytoma placental insufficiency polyneuropathy primary immunodeficiency disease progeria protein-energy malnutrition protoplasmic astrocytoma quadriplegia retinitis pigmentosa sarcomatoid carcinoma scoliosis sensorineural hearing loss sensory peripheral neuropathy spontaneous ocular nystagmus subependymal giant cell astrocytoma uric acid nephrolithiasis visual epilepsy visual pathway disease
56985	ADP-ribose/CDP-alcohol diphosphatase, manganese dependent	ADPRM Aliases: MDS006	Homo sapiens (human)
57151	lysozyme like 6	LYZL6 Aliases: LYC1 PRO1485 TKAL754	Homo sapiens (human)
278	amylase alpha 1C	AMY1C	Homo sapiens (human)	McCune Albright syndrome Sjogren's syndrome Zollinger-Ellison syndrome adenocarcinoma adenoma allergic rhinitis anorexia nervosa anxiety disorder autism spectrum disorder autistic disorder cancer cribriform carcinoma depressive disorder diabetes mellitus dysthymic disorder embryoma essential hypertension generalized anxiety disorder granular cell carcinoma hepatocellular carcinoma hyperinsulinism hypertension hypothalamic disease inflammatory bowel disease 1 inflammatory bowel disease intellectual disability keratoconjunctivitis sicca kwashiorkor learning disability liver cancer lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma major depressive disorder marasmus meconium aspiration syndrome melancholic depression multiple myeloma neurotic disorder nutrition disease obesity obsolete melancholia obstructive sleep apnea parathyroid gland disease periodontal disease phobic disorder post-traumatic stress disorder protein-energy malnutrition seasonal affective disorder substance abuse substance-related disorder tubular adenocarcinoma type 2 diabetes mellitus ulcerative colitis vasomotor rhinitis
27294	dihydrodiol dehydrogenase	DHDH Aliases: HUM2DD trans-1,2-dihydrobenzene-1,2-diol dehydrogenase	Homo sapiens (human)	bronchus cancer bronchus carcinoma carcinoma childhood germ cell cancer embryonal cancer esophagus squamous cell carcinoma germ cell and embryonal cancer germ cell cancer germinoma hepatocellular carcinoma liver cancer lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma prostate cancer prostate carcinoma sarcomatoid carcinoma
27090	ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4	ST6GALNAC4 Aliases: SIAT3C ST6GALNACIV	Homo sapiens (human)	Guillain-Barre syndrome Miller Fisher syndrome cancer thyroid gland follicular carcinoma
80267	ER degradation enhancing alpha-mannosidase like protein 3	EDEM3	Homo sapiens (human)	congenital disorder of glycosylation type II hepatitis C prostate cancer prostate carcinoma
2805	glutamic-oxaloacetic transaminase 1	GOT1	Homo sapiens (human)	amyloidosis amyotrophic lateral sclerosis cardiomyopathy pancreatic ductal adenocarcinoma transient cerebral ischemia
9162	diacylglycerol kinase iota	DGKI Aliases: DGK-IOTA	Homo sapiens (human)	acquired immunodeficiency syndrome alexia cancer dyslexia eclampsia giant cell glioblastoma glioblastoma high grade glioma human immunodeficiency virus infectious disease melanoma schizophrenia skin melanoma
3293	hydroxysteroid 17-beta dehydrogenase 3	HSD17B3 Aliases: SDR12C2 short chain dehydrogenase/reductase family 12C, member 2	Homo sapiens (human)	17-beta hydroxysteroid dehydrogenase 3 deficiency Alzheimer's disease Kallmann syndrome Sheehan syndrome acne androgen insensitivity syndrome autoimmune hepatitis cancer congenital adrenal hyperplasia congenital hypothyroidism cryptorchidism diabetes mellitus disorder of sexual development endometriosis of uterus endometriosis gynecomastia hepatitis hermaphroditism hypertrophy of breast hypogonadism hypogonadotropic hypogonadism 1 with or without anosmia hypogonadotropic hypogonadism 10 with or without anosmia hypogonadotropic hypogonadism 11 with or without anosmia hypogonadotropic hypogonadism 12 with or without anosmia hypogonadotropic hypogonadism 13 with or without anosmia hypogonadotropic hypogonadism 14 with or without anosmia hypogonadotropic hypogonadism 16 with or without anosmia hypogonadotropic hypogonadism 17 with or without anosmia hypogonadotropic hypogonadism 18 with or without anosmia hypogonadotropic hypogonadism 19 with or without anosmia hypogonadotropic hypogonadism 2 with or without anosmia hypogonadotropic hypogonadism 20 with or without anosmia hypogonadotropic hypogonadism 21 with or without anosmia hypogonadotropic hypogonadism 22 with or without anosmia hypogonadotropic hypogonadism 23 with or without anosmia hypogonadotropic hypogonadism 3 with or without anosmia hypogonadotropic hypogonadism 4 with or without anosmia hypogonadotropic hypogonadism 5 with or without anosmia hypogonadotropic hypogonadism 6 with or without anosmia hypogonadotropic hypogonadism 7 with or without anosmia hypogonadotropic hypogonadism 8 with or without anosmia hypogonadotropic hypogonadism 9 with or without anosmia hypogonadotropic hypogonadism hypopituitarism hypospadias hypothyroidism infant gynecomastia infertility isolated growth hormone deficiency type IA isolated growth hormone deficiency type IB isolated growth hormone deficiency type II isolated growth hormone deficiency type III isolated growth hormone deficiency myxedema nicotine dependence nodular prostate obesity panhypopituitarism premature menopause prostate cancer prostate carcinoma prostatic adenoma pseudohermaphroditism type 2 diabetes mellitus
417	ADP-ribosyltransferase 1	ART1 Aliases: ART2 ARTC1 CD296	Homo sapiens (human)	arthritis arthropathy astigmatism cancer central nervous system cancer colon carcinoma colorectal cancer colorectal carcinoma embryoma giant cell glioblastoma glioblastoma gliosarcoma glomerulonephritis hepatocellular carcinoma high grade glioma kidney disease large intestine cancer liver cancer mixed glioma nasopharynx carcinoma nephritis pancreatic cancer pancreatic carcinoma squamous cell carcinoma tongue squamous cell carcinoma tuberculosis
100861540	CYP3A7-CYP3A51P readthrough	CYP3A7-CYP3A51P	Homo sapiens (human)	bronchus cancer bronchus carcinoma cancer embryoma lung cancer lung carcinoma
9374	palmitoyl-protein thioesterase 2	PPT2	Homo sapiens (human)	cancer cerebellar ataxia cerebellar disease embryoma histiocytosis membranous glomerulonephritis multiple myeloma multiple sclerosis neuroblastoma neuronal ceroid lipofuscinosis 10 neuronal ceroid lipofuscinosis 11 neuronal ceroid lipofuscinosis 13 neuronal ceroid lipofuscinosis 1 neuronal ceroid lipofuscinosis 2 neuronal ceroid lipofuscinosis 3 neuronal ceroid lipofuscinosis 4 neuronal ceroid lipofuscinosis 5 neuronal ceroid lipofuscinosis 6A neuronal ceroid lipofuscinosis 6B neuronal ceroid lipofuscinosis 7 neuronal ceroid lipofuscinosis 8 northern epilepsy variant neuronal ceroid lipofuscinosis 8 neuronal ceroid lipofuscinosis 9 neuronal ceroid lipofuscinosis
84197	protein O-mannose kinase	POMK Aliases: FLJ23356 SgK196	Homo sapiens (human)	Dandy-Walker syndrome Duchenne muscular dystrophy Fukuyama congenital muscular dystrophy Joubert syndrome Miller-Dieker lissencephaly syndrome Peters anomaly Walker-Warburg syndrome agnosia autosomal dominant Emery-Dreifuss muscular dystrophy 2 autosomal dominant limb-girdle muscular dystrophy type 1 autosomal dominant limb-girdle muscular dystrophy type 1H autosomal dominant limb-girdle muscular dystrophy type 2 autosomal dominant limb-girdle muscular dystrophy type 3 autosomal dominant limb-girdle muscular dystrophy autosomal recessive limb-girdle muscular dystrophy type 2A autosomal recessive limb-girdle muscular dystrophy type 2B autosomal recessive limb-girdle muscular dystrophy type 2C autosomal recessive limb-girdle muscular dystrophy type 2D autosomal recessive limb-girdle muscular dystrophy type 2E autosomal recessive limb-girdle muscular dystrophy type 2F autosomal recessive limb-girdle muscular dystrophy type 2G autosomal recessive limb-girdle muscular dystrophy type 2H autosomal recessive limb-girdle muscular dystrophy type 2I autosomal recessive limb-girdle muscular dystrophy type 2J autosomal recessive limb-girdle muscular dystrophy type 2K autosomal recessive limb-girdle muscular dystrophy type 2L autosomal recessive limb-girdle muscular dystrophy type 2M autosomal recessive limb-girdle muscular dystrophy type 2N autosomal recessive limb-girdle muscular dystrophy type 2O autosomal recessive limb-girdle muscular dystrophy type 2P autosomal recessive limb-girdle muscular dystrophy type 2Q autosomal recessive limb-girdle muscular dystrophy type 2S autosomal recessive limb-girdle muscular dystrophy type 2T autosomal recessive limb-girdle muscular dystrophy type 2U autosomal recessive limb-girdle muscular dystrophy type 2Y autosomal recessive limb-girdle muscular dystrophy bilateral optic nerve hypoplasia blindness cardiomyopathy cataract coloboma communicating hydrocephalus complex cortical dysplasia with other brain malformations 1 complex cortical dysplasia with other brain malformations 7 congenital muscular dystrophy-dystroglycanopathy type A12 congenital muscular dystrophy-dystroglycanopathy type A1 congenital muscular dystrophy cornea plana cortical dysplasia-focal epilepsy syndrome cryptorchidism developmental coordination disorder distal myopathy endomyocardial fibrosis epilepsy facioscapulohumeral muscular dystrophy fundus dystrophy glaucoma hydranencephaly hydrocephalus hypertrophic cardiomyopathy hypertropia intellectual disability isolated elevated serum creatine phosphokinase levels learning disability limb-girdle muscular dystrophy lissencephaly lung small cell carcinoma mechanical strabismus megalocornea microcephaly microphthalmia muscular dystrophy-dystroglycanopathy type B1 muscular dystrophy-dystroglycanopathy type C12 muscular dystrophy myofibrillar myopathy 1 myofibrillar myopathy 3 myopia obsolete autosomal dominant limb-girdle muscular dystrophy type 1A obsolete autosomal dominant limb-girdle muscular dystrophy type 1B obsolete autosomal dominant limb-girdle muscular dystrophy type 1C obsolete autosomal recessive limb-girdle muscular dystrophy type 2R obstructive hydrocephalus oculopharyngeal muscular dystrophy ophthalmoplegia optic atrophy pontocerebellar hypoplasia type 2D pontocerebellar hypoplasia type 7 pontocerebellar hypoplasia type 8 pontocerebellar hypoplasia type 9 recurrent corneal erosion retinal degeneration retinal detachment rippling muscle disease 2 scoliosis senile degeneration of brain septooptic dysplasia short-rib thoracic dysplasia 14 with polydactyly strabismus syndromic X-linked intellectual disability Najm type visual epilepsy
349667	reticulon 4 receptor like 2	RTN4RL2 Aliases: NGRH1 NgR2	Homo sapiens (human)	colorectal cancer colorectal carcinoma large intestine cancer
5589	PRKCSH beta subunit of glucosidase II	PRKCSH	Homo sapiens (human)	Marfan syndrome Meckel syndrome autosomal dominant polycystic kidney disease beta thalassemia breast cancer breast carcinoma cancer cerebellar ataxia, mental retardation and dysequlibrium syndrome cystic kidney disease diabetic ketoacidosis episodic ataxia type 2 esophagitis familial hemiplegic migraine 1 familial hemiplegic migraine familial hypercholesterolemia gallbladder disease gastroesophageal reflux disease hepatitis B hepatocellular carcinoma liver cancer liver disease non-congenital cyst of kidney obsolete type 1 diabetes mellitus 9 peptic esophagitis polycystic kidney disease 1 polycystic liver disease situs inversus tuberous sclerosis 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

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