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 **701 - 725** of **1582** in total

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Gene ID	Gene Name	Gene Symbol	Organism ▲	Disease Ontology
22845	dolichol kinase	DOLK Aliases: DK1 KIAA1094 dolichol kinase 1	Homo sapiens (human)	Marfan syndrome X-linked dilated cardiomyopathy autosomal recessive polycystic kidney disease congenital disorder of glycosylation Im congenital disorder of glycosylation Iq congenital disorder of glycosylation type I congenital generalized lipodystrophy type 1 congenital generalized lipodystrophy type 2 congenital generalized lipodystrophy type 3 congenital generalized lipodystrophy type 4 dilated cardiomyopathy 1A dilated cardiomyopathy 1AA dilated cardiomyopathy 1B dilated cardiomyopathy 1BB dilated cardiomyopathy 1C dilated cardiomyopathy 1CC dilated cardiomyopathy 1D dilated cardiomyopathy 1DD dilated cardiomyopathy 1E dilated cardiomyopathy 1EE dilated cardiomyopathy 1FF dilated cardiomyopathy 1G dilated cardiomyopathy 1GG dilated cardiomyopathy 1H dilated cardiomyopathy 1HH dilated cardiomyopathy 1I dilated cardiomyopathy 1II dilated cardiomyopathy 1JJ dilated cardiomyopathy 1K dilated cardiomyopathy 1KK dilated cardiomyopathy 1L dilated cardiomyopathy 1M dilated cardiomyopathy 1NN dilated cardiomyopathy 1O dilated cardiomyopathy 1P dilated cardiomyopathy 1Q dilated cardiomyopathy 1R dilated cardiomyopathy 1S dilated cardiomyopathy 1T dilated cardiomyopathy 1U dilated cardiomyopathy 1V dilated cardiomyopathy 1W dilated cardiomyopathy 1X dilated cardiomyopathy 1Y dilated cardiomyopathy 1Z dilated cardiomyopathy 2A dilated cardiomyopathy 2B dilated cardiomyopathy ichthyosis isolated elevated serum creatine phosphokinase levels lipoatrophic diabetes mellitus lipodystrophy nonepidermolytic palmoplantar keratoderma palmoplantar keratosis polycystic kidney disease 4 sensorineural hearing loss situs inversus tuberous sclerosis
55750	acylglycerol kinase	AGK Aliases: FLJ10842	Homo sapiens (human)	3-methylglutaconic aciduria Chanarin-Dorfman syndrome Sengers syndrome agnosia autosomal dominant limb-girdle muscular dystrophy type 1 autosomal dominant limb-girdle muscular dystrophy type 1H autosomal dominant limb-girdle muscular dystrophy type 2 autosomal dominant limb-girdle muscular dystrophy type 3 autosomal dominant limb-girdle muscular dystrophy autosomal recessive limb-girdle muscular dystrophy type 2A autosomal recessive limb-girdle muscular dystrophy type 2B autosomal recessive limb-girdle muscular dystrophy type 2C autosomal recessive limb-girdle muscular dystrophy type 2D autosomal recessive limb-girdle muscular dystrophy type 2E autosomal recessive limb-girdle muscular dystrophy type 2F autosomal recessive limb-girdle muscular dystrophy type 2G autosomal recessive limb-girdle muscular dystrophy type 2H autosomal recessive limb-girdle muscular dystrophy type 2I autosomal recessive limb-girdle muscular dystrophy type 2J autosomal recessive limb-girdle muscular dystrophy type 2K autosomal recessive limb-girdle muscular dystrophy type 2L autosomal recessive limb-girdle muscular dystrophy type 2M autosomal recessive limb-girdle muscular dystrophy type 2N autosomal recessive limb-girdle muscular dystrophy type 2O autosomal recessive limb-girdle muscular dystrophy type 2P autosomal recessive limb-girdle muscular dystrophy type 2Q autosomal recessive limb-girdle muscular dystrophy type 2S autosomal recessive limb-girdle muscular dystrophy type 2T autosomal recessive limb-girdle muscular dystrophy type 2U autosomal recessive limb-girdle muscular dystrophy type 2Y autosomal recessive limb-girdle muscular dystrophy breast cancer breast carcinoma cancer cardiomyopathy cataract 1 multiple types cataract 10 multiple types cataract 11 multiple types cataract 12 multiple types cataract 13 with adult i phenotype cataract 14 multiple types cataract 15 multiple types cataract 16 multiple types cataract 17 multiple types cataract 18 cataract 19 multiple types cataract 2 multiple types cataract 20 multiple types cataract 21 multiple types cataract 22 multiple types cataract 23 cataract 24 cataract 25 cataract 26 multiple types cataract 27 cataract 29 cataract 3 multiple types cataract 30 cataract 31 multiple types cataract 32 multiple types cataract 33 cataract 34 multiple types cataract 35 cataract 37 cataract 38 cataract 39 multiple types cataract 4 multiple types cataract 40 cataract 41 cataract 42 cataract 43 cataract 44 cataract 45 cataract 46 juvenile-onset cataract 5 multiple types cataract 6 multiple types cataract 7 cataract 8 multiple types cataract 9 multiple types cataract central nervous system cancer cervical squamous cell carcinoma cervix uteri carcinoma in situ congenital muscular dystrophy congenital nystagmus corneal dystrophy developmental coordination disorder dissociated nystagmus distal myopathy embryoma endomyocardial fibrosis esophagus squamous cell carcinoma facioscapulohumeral muscular dystrophy familial hypertrophic cardiomyopathy familial periodic paralysis glaucoma gliosarcoma high grade glioma hypertrophic cardiomyopathy hypertropia lactic acidosis limb-girdle muscular dystrophy mechanical strabismus mitochondrial DNA depletion syndrome 12b mitochondrial metabolism disease mitochondrial myopathy mixed glioma muscular dystrophy myopathy myopia nasopharynx carcinoma obsolete autosomal dominant limb-girdle muscular dystrophy type 1A obsolete autosomal dominant limb-girdle muscular dystrophy type 1B obsolete autosomal dominant limb-girdle muscular dystrophy type 1C obsolete autosomal recessive limb-girdle muscular dystrophy type 2R oculopharyngeal muscular dystrophy ophthalmoplegia papillary adenocarcinoma papillary renal cell carcinoma pathologic nystagmus prostate cancer prostate carcinoma spontaneous ocular nystagmus squamous cell carcinoma strabismus thyroid adenoma thyroid cancer thyroid gland carcinoma thyroid gland papillary carcinoma tongue squamous cell carcinoma trichohepatoenteric syndrome 1
2731	glycine decarboxylase	GLDC Aliases: GCSP NKH glycine cleavage system protein P glycine dehydrogenase nonketotic hyperglycinemia	Homo sapiens (human)	B-cell lymphoma Cockayne syndrome Cornelia de Lange syndrome Dubowitz syndrome Grn-related frontotemporal lobar degeneration with Tdp43 inclusions Marfan 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 Prader-Willi syndrome Robinow syndrome Seckel syndrome Silver-Russell syndrome Unverricht-Lundborg syndrome X-linked Aarskog syndrome allergic asthma asthma autistic disorder autosomal dominant Robinow syndrome 1 autosomal dominant Robinow syndrome 2 autosomal dominant Robinow syndrome 3 autosomal recessive Robinow syndrome basal ganglia disease blepharospasm bone osteosarcoma brain disease bronchus cancer bronchus carcinoma cancer central nervous system cancer chondrodysplasia-pseudohermaphroditism syndrome chromosome 9p deletion syndrome communicating hydrocephalus conduct disorder disease of metabolism early myoclonic encephalopathy embryoma epilepsy focal hand dystonia frontotemporal dementia gliosarcoma glycine encephalopathy hepatocellular carcinoma high grade glioma hydrocephalus hyperglycemia idiopathic generalized epilepsy influenza intellectual disability intrinsic asthma large cell carcinoma learning disability liver cancer lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma microcephalic osteodysplastic primordial dwarfism type I microcephalic osteodysplastic primordial dwarfism type II mixed glioma neuroblastoma obesity obsolete ymphosarcoma obstructive hydrocephalus osteosarcoma progressive supranuclear palsy prostate cancer prostate carcinoma red-green color blindness schizophrenia senile degeneration of brain situs inversus stomach cancer stomach carcinoma tuberous sclerosis viral infectious disease visual epilepsy
9976	C-type lectin domain family 2 member B	CLEC2B Aliases: AICL HP10085	Homo sapiens (human)	cancer hepatocellular carcinoma liver cancer
30815	ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6	ST6GALNAC6 Aliases: ST6GALNACVI	Homo sapiens (human)	kidney cancer
55627	sphingomyelin phosphodiesterase 4	SMPD4 Aliases: FLJ20297 FLJ20756 KIAA1418 NET13 NSMASE3 nSMase-3 neutral sphingomyelinase-3	Homo sapiens (human)	acute myocardial infarction coronary thrombosis microcephaly myocardial infarction silent myocardial infarction
9173	interleukin 1 receptor like 1	IL1RL1 Aliases: DER4 FIT-1 IL33R ST2 ST2L ST2V T1 homolog of mouse growth stimulation-expressed	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 Beckwith-Wiedemann syndrome CLOVES syndrome Cri-Du-Chat syndrome Crohn's colitis Crohn's disease Down syndrome Duchenne muscular dystrophy Graves' disease Hantavirus hemorrhagic fever with renal syndrome Human papillomavirus infectious disease Japanese encephalitis Loeffler syndrome Perlman syndrome Pick's disease Reye syndrome Richter's syndrome Sotos syndrome Wolf-Hirschhorn syndrome acute leukemia acute lymphoblastic leukemia acute myeloid leukemia acute myocardial infarction adult acute lymphocytic leukemia adult lymphoma allergic asthma allergic disease allergic rhinitis arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease asthma atherosclerosis atopic dermatitis autoimmune disease autoimmune lymphoproliferative syndrome autoimmune thyroiditis bacterial pneumonia bacterial sepsis bronchiolitis bronchus cancer bronchus carcinoma cancer cardiomyopathy cardiovascular system disease central nervous system lymphoma cerebral degeneration cerebral infarction cerebrovascular disease childhood acute lymphocytic leukemia childhood leukemia childhood lymphoma chorioamnionitis choroideremia chronic ethmoiditis chronic lymphocytic leukemia chronic obstructive pulmonary disease chronic sphenoidal sinusitis colorectal cancer colorectal carcinoma congestive heart failure coronary artery disease craniosynostosis dengue disease dengue hemorrhagic fever dermatitis diabetic ketoacidosis diarrhea dilated cardiomyopathy 1A dilated cardiomyopathy endomyocardial fibrosis eosinophilic esophagitis eosinophilic pneumonia essential hypertension heart disease hemolytic-uremic syndrome hepatitis B hepatoblastoma hepatocellular carcinoma hypereosinophilic syndrome hypertension hyperthyroidism hypertrophic cardiomyopathy idiopathic interstitial pneumonia idiopathic pulmonary fibrosis immune system disease infantile histiocytoid cardiomyopathy inflammatory bowel disease 1 inflammatory bowel disease intestinal schistosomiasis intrinsic asthma large intestine cancer leprosy leukemia lung benign neoplasm lung cancer lung carcinoma lung disease lymphoma multiple myeloma muscular dystrophy nutmeg liver obsolete type 1 diabetes mellitus 9 obsolete ymphosarcoma pancreatic adenocarcinoma paracoccidioidomycosis parasitic helminthiasis infectious disease peripheral artery disease postinflammatory pulmonary fibrosis pulmonary eosinophilia pulmonary fibrosis rhinitis stomach cancer stomach carcinoma temporal arteritis thyrotoxicosis tongue squamous cell carcinoma type 1 diabetes mellitus 10 type 1 diabetes mellitus 11 type 1 diabetes mellitus 12 type 1 diabetes mellitus 13 type 1 diabetes mellitus 15 type 1 diabetes mellitus 17 type 1 diabetes mellitus 18 type 1 diabetes mellitus 19 type 1 diabetes mellitus 20 type 1 diabetes mellitus 21 type 1 diabetes mellitus 22 type 1 diabetes mellitus 23 type 1 diabetes mellitus 24 type 1 diabetes mellitus 2 type 1 diabetes mellitus 3 type 1 diabetes mellitus 4 type 1 diabetes mellitus 5 type 1 diabetes mellitus 6 type 1 diabetes mellitus 7 type 1 diabetes mellitus 8 type 1 diabetes mellitus ulcerative colitis ureteral obstruction vasomotor rhinitis viral infectious disease yellow fever
9746	calsyntenin 3	CLSTN3	Homo sapiens (human)
6441	surfactant protein D	SFTPD Aliases: COLEC7 SP-D	Homo sapiens (human)	Bloch-Sulzberger syndrome Coronavirus infectious disease Crohn's colitis Crohn's disease Ebola hemorrhagic fever Fabry disease Wolman disease acquired immunodeficiency syndrome acute interstitial pneumonia acute lymphoblastic leukemia acute pancreatitis adenocarcinoma adenoid hypertrophy adenoma adult acute lymphocytic leukemia adult respiratory distress syndrome allergic asthma allergic disease allergic rhinitis anthracosilicosis arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy asbestosis asthma atherosclerosis bacterial pneumonia bacterial sepsis blastomycosis brain stem infarction breast cancer bronchiectasis bronchiolitis obliterans bronchiolitis bronchitis bronchopulmonary dysplasia bronchus cancer bronchus carcinoma byssinosis cancer cardiovascular system disease cataract 32 multiple types cerebral artery occlusion cerebral infarction cerebrovascular disease childhood acute lymphocytic leukemia chronic ethmoiditis chronic interstitial cystitis chronic obstructive pulmonary disease chronic sphenoidal sinusitis chylomicron retention disease colitis communicating hydrocephalus cone-rod dystrophy congenital diaphragmatic hernia congestive heart failure corneal ulcer coronary artery disease coronary stenosis craniosynostosis cribriform carcinoma cystic fibrosis diabetes mellitus diabetic ketoacidosis disease of metabolism dry eye syndrome embryoma fundus albipunctatus gastroenteritis glomerulonephritis granular cell carcinoma heart disease herpes simplex virus keratitis human immunodeficiency virus infectious disease hydrocephalus hypereosinophilic syndrome hypomelanosis of Ito idiopathic interstitial pneumonia idiopathic pulmonary fibrosis ileitis ileocolitis inflammatory bowel disease 1 inflammatory bowel disease influenza interstitial cystitis interstitial lung disease interstitial nephritis intrinsic asthma kidney disease leprosy leukopenia lipid storage disease lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung disease lung non-small cell carcinoma lung small cell carcinoma lymphangioleiomyomatosis lymphoblastic lymphoma middle cerebral artery infarction mixed connective tissue disease nephritis nephrosis neurogenic arthropathy newborn respiratory distress syndrome nutmeg liver obesity obstructive hydrocephalus obstructive lung disease osteoarthritis ovarian cancer ovarian carcinoma pancreatic adenocarcinoma pancreatic cancer pancreatic carcinoma pancreatitis paracoccidioidomycosis parapsoriasis periodontitis peripheral artery disease periventricular leukomalacia pneumocystosis pneumonia postinflammatory pulmonary fibrosis pre-malignant neoplasm prostate adenocarcinoma prostate cancer prostate carcinoma prune belly syndrome psoriasis pulmonary alveolar proteinosis pulmonary emphysema pulmonary fibrosis pustulosis of palm and sole pyelitis pyelonephritis pyoureter renal infectious disease respiratory failure respiratory syncytial virus infectious disease retinitis pigmentosa rheumatoid arthritis rhinitis sarcoidosis scleroderma senile degeneration of brain sickle cell anemia silicosis sinusitis squamous cell carcinoma sudden infant death syndrome systemic lupus erythematosus systemic primary carnitine deficiency disease systemic scleroderma tongue squamous cell carcinoma tuberculosis tubular adenocarcinoma type 2 diabetes mellitus ulcerative colitis urinary tract obstruction vasomotor rhinitis viral infectious disease xerophthalmia
4248	beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase	MGAT3 Aliases: GNT-III	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 brachydactyly type C brachydactyly breast cancer cancer cerebral degeneration chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma embryoma hepatitis B hepatocellular carcinoma inflammatory bowel disease liver cancer ovarian cancer ovarian carcinoma papillary renal cell carcinoma renal cell carcinoma sarcomatoid renal cell carcinoma
54742	lymphocyte antigen 6 family member K	LY6K Aliases: CT97 FLJ35226 HSJ001348 cancer/testis antigen 97	Homo sapiens (human)	adult lymphoma bladder carcinoma breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma central nervous system lymphoma childhood lymphoma diffuse large B-cell lymphoma duodenal ulcer embryoma esophageal cancer esophageal carcinoma esophagus squamous cell carcinoma head and neck squamous cell carcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lymphoma obsolete ymphosarcoma sarcomatoid carcinoma seminoma squamous cell carcinoma testicular cancer testis seminoma tongue squamous cell carcinoma urinary bladder cancer
10558	serine palmitoyltransferase long chain base subunit 1	SPTLC1 Aliases: HSAN1 LCB1 SPTI hLCB1	Homo sapiens (human)	Alzheimer's disease 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 Grn-related frontotemporal lobar degeneration with Tdp43 inclusions Horner's syndrome Huntington's disease-like 1 Huntington's disease-like 2 Huntington's disease Riley-Day syndrome acquired hyperkeratosis agenesis of the corpus callosum with peripheral neuropathy alternating hemiplegia of childhood autonomic neuropathy bipolar disorder brain cancer breast cancer cancer central nervous system cancer central nervous system disease chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma dementia diabetes mellitus disease of mental health embryoma frontotemporal dementia gliosarcoma hereditary neuropathy with liability to pressure palsies hereditary sensory and autonomic neuropathy type 1 hereditary sensory and autonomic neuropathy type 1A hereditary sensory and autonomic neuropathy type 2 hereditary sensory and autonomic neuropathy type 5 hereditary sensory neuropathy type 4 hereditary sensory neuropathy high grade glioma juvenile amyotrophic lateral sclerosis type 27 keratosis mixed glioma motor peripheral neuropathy nervous system disease neurodegenerative disease neuropathy nonpapillary renal cell carcinoma obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum papillary renal cell carcinoma peripheral nervous system disease polyneuropathy psychotic disorder renal carcinoma renal cell carcinoma sarcomatoid renal cell carcinoma schizoaffective disorder schizophrenia schizophreniform disorder sensorineural hearing loss sensory peripheral neuropathy skin disease type 2 diabetes mellitus
57126	CD177 molecule	CD177 Aliases: HNA2A NB1 PRV1 polycythemia rubra vera 1	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 Kawasaki disease Pick's disease Reye syndrome acquired polycythemia acute myeloid leukemia agranulocytosis autoimmune disease autoimmune lymphoproliferative syndrome bacterial sepsis beta thalassemia bone marrow cancer breast cancer breast carcinoma campomelic dysplasia cancer cerebral degeneration chronic kidney disease chronic myeloid leukemia colitis colorectal cancer colorectal carcinoma craniometaphyseal dysplasia embryoma erythropoietin polycythemia essential thrombocythemia familial erythrocytosis 1 familial erythrocytosis 2 gastritis gastroenteritis ileitis ileocolitis immune system disease influenza large intestine cancer leukopenia lung cancer lung non-small cell carcinoma microphthalmia multiple sclerosis myelodysplastic syndrome myelofibrosis myeloproliferative neoplasm myositis neuroblastoma neutropenia nodular prostate obsolete Matthew-Wood syndrome ocular melanoma plasmacytoma polycythemia vera polycythemia primary polycythemia primary pulmonary hypertension prostate cancer prostate carcinoma prostatic adenoma retinoblastoma severe congenital neutropenia stomach cancer stomach carcinoma stress polycythemia thalassemia thrombocytosis thrombosis vasculitis
6391	succinate dehydrogenase complex subunit C	SDHC Aliases: CYB560 cybL large subunit of cytochrome b succinate dehydrgenase cytochrome b succinate dehydrogenase cytochrome b560 subunit	Homo sapiens (human)	Bannayan-Riley-Ruvalcaba syndrome Carney complex Carney-Stratakis syndrome Coffin-Siris syndrome 1 Coffin-Siris syndrome Cowden syndrome Laron syndrome Leigh disease Peutz-Jeghers syndrome Raynaud disease achondroplasia achromatopsia acoustic neuroma acquired color blindness adenocarcinoma adenoma adrenal adenoma adrenal cortex cancer adrenal gland cancer anemia angioedema angiomatous meningioma aniridia autistic disorder autosomal dominant cerebellar ataxia benign meningioma bipolar disorder blue color blindness bone osteosarcoma breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer capillary hemangioma cataract 4 multiple types cataract cavernous hemangioma central nervous system cancer cerebral convexity meningioma childhood osteosarcoma choriocarcinoma chromophobe renal cell carcinoma clear cell meningioma clear cell renal cell carcinoma collecting duct carcinoma colon cancer colonic benign neoplasm color blindness colorectal cancer colorectal carcinoma congestive heart failure cranial nerve disease cranial nerve palsy cutaneous fibrous histiocytoma duodenum cancer embryoma endocrine gland cancer endometrial cancer endometrial carcinoma epilepsy epithelioid sarcoma esophageal cancer esophageal carcinoma essential hypertension exanthem fibrous meningioma fissured tongue follicular adenoma gangliocytoma ganglioneuroma gastrointestinal stromal tumor gastrointestinal system cancer geographic tongue gestational diabetes gliosarcoma glomerulonephritis goiter gynecomastia head and neck cancer heart cancer hemangioma hepatitis C hepatocellular carcinoma hidradenoma high grade glioma hypercalcemia hypertension hypertensive retinopathy hypertrophy of breast ileus infant gynecomastia intellectual disability intestinal obstruction intracranial hypertension intraorbital meningioma intraventricular meningioma kidney disease large intestine cancer learning disability lipoma liver cancer lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lung small cell carcinoma macrocytic anemia melanoma meningioma meningothelial meningioma microcystic adenoma microcystic meningioma mitochondrial metabolism disease mitochondrial myopathy mixed glioma multiple endocrine neoplasia type 1 multiple endocrine neoplasia type 2A myopia nephritis nephrocalcinosis neuroblastoma neuroendocrine carcinoma neuroendocrine tumor neurofibroma neurofibromatosis 1 neurofibromatosis nonepidermolytic palmoplantar keratoderma nonpapillary renal cell carcinoma nontoxic goiter obsolete constipation olfactory groove meningioma osteosarcoma palmoplantar keratosis panic disorder papillary adenoma papillary renal cell carcinoma papilloma paraganglioma parasagittal meningioma peripheral nervous system neoplasm pheochromocytoma phosphorus metabolism disease pituitary adenoma placenta cancer pleomorphic lipoma primary hyperparathyroidism prostate cancer prostate carcinoma proteinuria psammomatous meningioma pseudotumor cerebri rectal benign neoplasm rectum cancer red color blindness red-green color blindness renal carcinoma renal cell carcinoma renal osteodystrophy sarcoma sarcomatoid renal cell carcinoma scleroderma scoliosis secretory meningioma sensorineural hearing loss skin melanoma skin papilloma skin tag small intestine benign neoplasm small intestine cancer spinal meningioma spindle cell sarcoma spinocerebellar ataxia type 2 squamous cell papilloma stomach cancer stomach carcinoma syringoma systemic scleroderma thyroid adenoma thyroid cancer thyroid gland carcinoma thyroid gland disease thyroid gland follicular carcinoma thyroid gland medullary carcinoma transitional meningioma tuberous sclerosis urticaria uterine corpus cancer visual epilepsy von Hippel-Lindau disease
79947	dehydrodolichyl diphosphate synthase subunit	DHDDS Aliases: DS FLJ13102 HDS RP59 hCIT	Homo sapiens (human)	Alzheimer's disease Cockayne syndrome Cornelia de Lange syndrome Crohn's colitis Crohn's disease Dubowitz syndrome Ehrlich tumor carcinoma Laron 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 Patau syndrome Prader-Willi syndrome Robinow syndrome Seckel syndrome Silver-Russell syndrome Unverricht-Lundborg syndrome Weissenbacher-Zweymuller syndrome X-linked Aarskog syndrome Zollinger-Ellison syndrome achondroplasia acute myeloid leukemia adenocarcinoma adenoma adult medulloblastoma adult oligodendroglioma agranulocytosis amyotrophic lateral sclerosis anodontia attention deficit hyperactivity disorder autosomal dominant Robinow syndrome 1 autosomal dominant Robinow syndrome 2 autosomal dominant Robinow syndrome 3 autosomal recessive Robinow syndrome bladder carcinoma blepharospasm blindness bone osteosarcoma brain stem glioma breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carnitine palmitoyltransferase II deficiency cataract central nervous system cancer central nervous system lymphoma cerebral degeneration cervical squamous cell carcinoma childhood medulloblastoma childhood oligodendroglioma chondrodysplasia-pseudohermaphroditism syndrome chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma cone-rod dystrophy congenital diaphragmatic hernia corneal disease cribriform carcinoma cryptorchidism decubitus ulcer dementia depressive disorder developmental delay and seizures with or without movement abnormalities diarrhea dysthymic disorder dystonia early myoclonic encephalopathy embryoma endometrial cancer endometrial carcinoma epilepsy esophagus squamous cell carcinoma focal hand dystonia fundus albipunctatus giant cell glioblastoma glaucoma glioblastoma gliosarcoma granular cell carcinoma hepatocellular carcinoma hiatus hernia high grade glioma hyperinsulinism hypoglycemia hypogonadism inflammatory bowel disease 1 inflammatory bowel disease islet cell tumor keratoconus kidney failure large intestine cancer leukopenia lingual-facial-buccal dyskinesia liver cancer liver cirrhosis lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lung small cell carcinoma lymphoma major depressive disorder medulloblastoma medullomyoblastoma melancholic depression melanotic medulloblastoma microcephalic osteodysplastic primordial dwarfism type I microcephalic osteodysplastic primordial dwarfism type II microcephaly mitochondrial metabolism disease mitochondrial myopathy mitochondrial trifunctional protein deficiency mixed glioma mixed oligodendroglioma-astrocytoma multiple myeloma neuroblastoma neurofibromatosis 1 neurofibromatosis neurotic disorder neutropenia obsolete infantile epileptic encephalopathy obsolete melancholia obsolete ymphosarcoma oligodendroglioma ophthalmoplegia osteosarcoma ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma pancreatic endocrine carcinoma papillary renal cell carcinoma pathological gambling progressive muscular atrophy prostate cancer prostate carcinoma psychotic disorder pyruvate carboxylase deficiency disease pyruvate decarboxylase deficiency rectal benign neoplasm rectum adenocarcinoma rectum cancer renal carcinoma renal cell carcinoma retinal degeneration retinitis pigmentosa 59 retinitis pigmentosa rippling muscle disease 2 sarcomatoid renal cell carcinoma schizoaffective disorder schizophrenia schizophreniform disorder severe congenital neutropenia squamous cell carcinoma squamous cell neoplasm status epilepticus steatotic liver disease stomach cancer stomach carcinoma subacute bacterial endocarditis substance abuse substance-related disorder thyroid gland medullary carcinoma tooth agenesis tubular adenocarcinoma ulcerative colitis urinary bladder cancer uterine corpus cancer varicocele visual epilepsy
22934	ribose 5-phosphate isomerase A	RPIA	Homo sapiens (human)	Chagas disease agnosia cancer colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma congenital nystagmus critical illness polyneuropathy disease of metabolism dissociated nystagmus epilepsy familial adenomatous polyposis 1 familial adenomatous polyposis hepatocellular carcinoma inflammatory and toxic neuropathy islet cell tumor large intestine cancer liver cancer liver carcinoma meningoencephalitis multiple myeloma neuropathy optic atrophy papillary adenocarcinoma papillary renal cell carcinoma pathologic nystagmus peripheral nervous system disease polyneuropathy spontaneous ocular nystagmus thyroid adenoma thyroid cancer thyroid gland carcinoma thyroid gland medullary carcinoma thyroid gland papillary carcinoma trypanosomiasis visual epilepsy
131	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	ADH7 Aliases: ADH-4	Homo sapiens (human)	Leber congenital amaurosis Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease adenocarcinoma adenoma alcohol dependence alcohol use disorder aniridia cancer chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma colorectal cancer colorectal carcinoma cone-rod dystrophy cribriform carcinoma embryoma endometrial cancer endometrial carcinoma esophageal cancer esophageal carcinoma esophagus squamous cell carcinoma fundus albipunctatus fundus dystrophy granular cell carcinoma head and neck cancer head and neck squamous cell carcinoma large intestine cancer laryngeal benign neoplasm laryngeal carcinoma larynx cancer lung cancer lung non-small cell carcinoma nicotine dependence nonpapillary renal cell carcinoma papillary renal cell carcinoma pharynx cancer renal carcinoma renal cell carcinoma retinitis pigmentosa sarcomatoid renal cell carcinoma squamous cell carcinoma squamous cell neoplasm stomach cancer stomach carcinoma substance abuse substance-related disorder tongue squamous cell carcinoma tubular adenocarcinoma uterine corpus cancer
64772	endo-beta-N-acetylglucosaminidase	ENGASE Aliases: Di-N-acetylchitobiosyl beta-N-acetylglucosaminidase FLJ21865 Mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase	Homo sapiens (human)	NGLY1-deficiency breast cancer breast carcinoma rheumatoid arthritis
1119	choline kinase alpha	CHKA Aliases: CKI	Homo sapiens (human)	Duchenne muscular dystrophy T-cell acute lymphoblastic leukemia 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 basal cell carcinoma breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer central nervous system cancer colon adenoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma congenital muscular dystrophy distal myopathy embryoma epilepsy esophagus squamous cell carcinoma facioscapulohumeral muscular dystrophy gliosarcoma hematologic cancer hepatitis B hepatocellular carcinoma high grade glioma large intestine cancer limb-girdle muscular dystrophy liver cancer lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma megaconial type congenital muscular dystrophy microcephaly microphthalmia mixed glioma muscular dystrophy myelomeningocele myofibrillar myopathy 1 myofibrillar myopathy 3 neuroblastoma obsolete Matthew-Wood syndrome obsolete autosomal dominant limb-girdle muscular dystrophy type 1A obsolete autosomal dominant limb-girdle muscular dystrophy type 1B obsolete autosomal dominant limb-girdle muscular dystrophy type 1C obsolete autosomal recessive limb-girdle muscular dystrophy type 2R oculopharyngeal muscular dystrophy ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma pancreatic ductal adenocarcinoma prostate cancer prostate carcinoma rippling muscle disease 2 spina bifida squamous cell carcinoma steatotic liver disease tethered spinal cord syndrome tongue squamous cell carcinoma transient cerebral ischemia vertebrobasilar insufficiency
390637	GDP-D-glucose phosphorylase 1	GDPGP1	Homo sapiens (human)
3824	killer cell lectin like receptor D1	KLRD1	Homo sapiens (human)	Behcet's disease Evans' syndrome Peutz-Jeghers syndrome acquired immunodeficiency syndrome acute myeloid leukemia acute promyelocytic leukemia adult lymphoma allergic asthma asthma autoimmune disease autoimmune lymphoproliferative syndrome type 2A autoimmune lymphoproliferative syndrome type 2B autoimmune lymphoproliferative syndrome type 3 autoimmune lymphoproliferative syndrome autoimmune thrombocytopenic purpura bacterial infectious disease cancer central nervous system lymphoma cervix uteri carcinoma in situ chikungunya childhood lymphoma chronic NK-cell lymphocytosis common wart dengue hemorrhagic fever diabetic ketoacidosis embryoma enthesopathy fibromyalgia hepatitis B hepatitis C hepatocellular carcinoma human immunodeficiency virus infectious disease idiopathic scoliosis immune system disease infectious mononucleosis influenza intrinsic asthma liver cancer lung cancer lung non-small cell carcinoma lymphoma lymphoproliferative syndrome 1 lymphoproliferative syndrome 2 multiple sclerosis obsolete malignant histiocytosis obsolete type 1 diabetes mellitus 9 obsolete ymphosarcoma primary immunodeficiency disease rheumatoid arthritis systemic Epstein-Barr virus positive T-cell lymphoma of childhood systemic lupus erythematosus tropical spastic paraparesis 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 von Hippel-Lindau disease
53947	alpha 1,4-galactosyltransferase (P1PK blood group)	A4GALT Aliases: A14GALT CD77 synthase Gb3 synthase Gb3S P(k) globotriaosylceramide synthase lactosylceramide 4-alpha-galactosyltransferase	Homo sapiens (human)	Burkitt lymphoma Caffey disease acute megakaryocytic leukemia adenocarcinoma adenoma cancer cribriform carcinoma embryoma gastric adenocarcinoma granular cell carcinoma hematologic cancer hemolytic-uremic syndrome kidney failure leukemia teratocarcinoma thrombophilia tubular adenocarcinoma
338707	beta-1,4-N-acetyl-galactosaminyltransferase 4	B4GALNT4 Aliases: FLJ25045 N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N- acetylgalactosaminyltransferase NGalNAc-T1	Homo sapiens (human)	cancer embryoma ovarian cancer
3073	hexosaminidase subunit alpha	HEXA Aliases: GM2 gangliosidosis Tay Sachs disease beta-hexosaminidase subunit alpha	Homo sapiens (human)	GM2 gangliosidosis, AB variant GM2 gangliosidosis Gaucher's disease Hodgkin's granuloma Hodgkin's lymphoma, lymphocytic depletion Hodgkin's lymphoma, lymphocytic-histiocytic predominance Hodgkin's lymphoma, mixed cellularity Hodgkin's lymphoma Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Sandhoff disease Tay-Sachs disease Werdnig-Hoffmann disease acquired immunodeficiency syndrome adult lymphoma amyotrophic lateral sclerosis blindness cancer central nervous system cancer central nervous system lymphoma childhood lymphoma childhood spinal muscular atrophy cystic fibrosis dementia diffuse scleroderma embryoma epilepsy gangliosidosis gliosarcoma glycoproteinosis high grade glioma human immunodeficiency virus infectious disease inherited metabolic disorder intellectual disability juvenile spinal muscular atrophy learning disability lingual-facial-buccal dyskinesia lymphoma lysosomal storage disease mixed glioma movement disease mucolipidosis type IV neurodegenerative disease obesity obsolete ymphosarcoma progressive muscular atrophy rheumatoid arthritis sensorineural hearing loss sickle cell anemia spinal muscular atrophy visual epilepsy
56983	protein O-glucosyltransferase 1	POGLUT1 Aliases: 9630046K23Rik KDELC family like 1 KDELCL1 MDS010 MDSRP MGC32995 Rumi hCLP46	Homo sapiens (human)	Dowling-Degos disease Duchenne muscular dystrophy T-cell acute lymphoblastic leukemia T-cell adult acute lymphocytic leukemia acute myeloid leukemia 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 type 2Z autosomal recessive limb-girdle muscular dystrophy cancer childhood T-cell acute lymphoblastic leukemia childhood leukemia colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma congenital muscular dystrophy distal myopathy embryoma essential thrombocythemia facioscapulohumeral muscular dystrophy hematopoietic system disease isolated elevated serum creatine phosphokinase levels keratosis follicularis large intestine cancer leukemia limb-girdle muscular dystrophy lung cancer lung non-small cell carcinoma mongolian spot muscular dystrophy myelodysplastic syndrome myofibrillar myopathy 1 myofibrillar myopathy 3 obsolete autosomal dominant limb-girdle muscular dystrophy type 1A obsolete autosomal dominant limb-girdle muscular dystrophy type 1B obsolete autosomal dominant limb-girdle muscular dystrophy type 1C obsolete autosomal recessive limb-girdle muscular dystrophy type 2R oculopharyngeal muscular dystrophy primary biliary cholangitis pseudoxanthoma elasticum reticulate acropigmentation of Kitamura rippling muscle disease 2

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