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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 **1026 - 1050** of **1582** in total

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Gene ID ▲	Gene Name	Gene Symbol	Organism	Disease Ontology
51266	C-type lectin domain family 1 member B	CLEC1B Aliases: CLEC-2 CLEC2	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 Evans' syndrome Marfan syndrome Pick's disease Reye syndrome adult respiratory distress syndrome androgen insensitivity syndrome arteriosclerotic cardiovascular disease atherosclerosis atrioventricular septal defect autoimmune thrombocytopenic purpura bacterial sepsis blood coagulation disease cancer cerebral degeneration cerebral infarction cerebrovascular disease chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma coronary artery disease diabetes mellitus diabetic ketoacidosis embryoma gallbladder disease hematopoietic system disease hemolytic-uremic syndrome hepatocellular carcinoma liver cancer liver disease lung benign neoplasm melanoma newborn respiratory distress syndrome nonpapillary renal cell carcinoma nutmeg liver obsolete inherited blood coagulation disease papillary renal cell carcinoma pneumonia renal carcinoma renal cell carcinoma rheumatoid arthritis sarcomatoid renal cell carcinoma situs inversus skin melanoma split hand-foot malformation 1 stomach cancer stomach carcinoma thrombocytopenia due to platelet alloimmunization thrombocytopenia thrombophilia thrombotic thrombocytopenic purpura tuberous sclerosis type 2 diabetes mellitus viral infectious disease
51267	C-type lectin domain family 1 member A	CLEC1A Aliases: CLEC-1 CLEC1 MGC34328	Homo sapiens (human)	aspergillosis black piedra coccidioidomycosis histoplasmosis sporotrichosis superficial mycosis white piedra
51294	protocadherin 12	PCDH12	Homo sapiens (human)
51301	glucosaminyl (N-acetyl) transferase 4	GCNT4 Aliases: C2GNT3 beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4 core 2 beta-1,6-N-acetylglucosaminyltransferase 3	Homo sapiens (human)
51302	cytochrome P450 family 39 subfamily A member 1	CYP39A1	Homo sapiens (human)	Charcot-Marie-Tooth disease type 5 MASA syndrome Mast syndrome SPOAN syndrome Troyer syndrome agranulocytosis gallbladder cancer gallbladder carcinoma hepatocellular carcinoma hereditary spastic paraplegia 10 hereditary spastic paraplegia 11 hereditary spastic paraplegia 12 hereditary spastic paraplegia 13 hereditary spastic paraplegia 14 hereditary spastic paraplegia 15 hereditary spastic paraplegia 16 hereditary spastic paraplegia 17 hereditary spastic paraplegia 18 hereditary spastic paraplegia 19 hereditary spastic paraplegia 23 hereditary spastic paraplegia 24 hereditary spastic paraplegia 25 hereditary spastic paraplegia 26 hereditary spastic paraplegia 27 hereditary spastic paraplegia 28 hereditary spastic paraplegia 29 hereditary spastic paraplegia 2 hereditary spastic paraplegia 30 hereditary spastic paraplegia 31 hereditary spastic paraplegia 32 hereditary spastic paraplegia 34 hereditary spastic paraplegia 35 hereditary spastic paraplegia 36 hereditary spastic paraplegia 37 hereditary spastic paraplegia 38 hereditary spastic paraplegia 39 hereditary spastic paraplegia 3A hereditary spastic paraplegia 41 hereditary spastic paraplegia 42 hereditary spastic paraplegia 43 hereditary spastic paraplegia 44 hereditary spastic paraplegia 45 hereditary spastic paraplegia 46 hereditary spastic paraplegia 48 hereditary spastic paraplegia 49 hereditary spastic paraplegia 4 hereditary spastic paraplegia 53 hereditary spastic paraplegia 54 hereditary spastic paraplegia 55 hereditary spastic paraplegia 56 hereditary spastic paraplegia 57 hereditary spastic paraplegia 5A hereditary spastic paraplegia 61 hereditary spastic paraplegia 62 hereditary spastic paraplegia 63 hereditary spastic paraplegia 64 hereditary spastic paraplegia 6 hereditary spastic paraplegia 72A hereditary spastic paraplegia 73 hereditary spastic paraplegia 75 hereditary spastic paraplegia 77 hereditary spastic paraplegia 7 hereditary spastic paraplegia 8 hereditary spastic paraplegia 9A hereditary spastic paraplegia 9B hereditary spastic paraplegia leukopenia liver cancer neutropenia prostate cancer prostate carcinoma severe congenital neutropenia
51363	carbohydrate sulfotransferase 15	CHST15 Aliases: B cell RAG associated protein BRAG GALNAC4S-6ST KIAA0598 N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase	Homo sapiens (human)	Crohn's colitis Crohn's disease adult astrocytic tumor anaplastic astrocytoma breast cancer breast carcinoma cancer childhood astrocytic tumor childhood cerebral astrocytoma colitis embryoma endometrial cancer endometrial carcinoma esophageal cancer esophageal carcinoma esophagus squamous cell carcinoma fibrillary astrocytoma gastroenteritis gemistocytic astrocytoma giant cell glioblastoma glioblastoma high grade glioma idiopathic interstitial pneumonia ileitis ileocolitis inflammatory bowel disease 1 inflammatory bowel disease juvenile pilocytic astrocytoma lung benign neoplasm malignant astrocytoma microphthalmia obsolete Matthew-Wood syndrome ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma pancreatic ductal adenocarcinoma patent ductus arteriosus pilocytic astrocytoma postinflammatory pulmonary fibrosis protoplasmic astrocytoma pulmonary fibrosis subependymal giant cell astrocytoma ulcerative colitis uterine corpus cancer
51422	protein kinase AMP-activated non-catalytic subunit gamma 2	PRKAG2	Homo sapiens (human)	Wolff-Parkinson-White syndrome glycogen storage disease hypertrophic cardiomyopathy 6 lethal congenital glycogen storage disease of heart neurodegenerative disease
51477	inositol-3-phosphate synthase 1	ISYNA1 Aliases: INOS IPS Ino1 myo-inositol 1-phosphate synthase	Homo sapiens (human)	Guillain-Barre syndrome Hodgkin's granuloma Hodgkin's lymphoma, lymphocytic depletion Hodgkin's lymphoma, lymphocytic-histiocytic predominance Hodgkin's lymphoma, mixed cellularity Hodgkin's lymphoma Loeffler syndrome Miller Fisher syndrome Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Plasmodium falciparum malaria Richter's syndrome Stiff-Person syndrome Unverricht-Lundborg syndrome Zika fever acute lymphoblastic leukemia acute myocardial infarction acute pancreatitis adenocarcinoma adenoid cystic carcinoma adenoma adult lymphoma allergic asthma arteriosclerotic cardiovascular disease arthritis arthropathy asthma atherosclerosis atrial fibrillation azoospermia bacterial sepsis bladder carcinoma blepharospasm brain stem infarction breast cancer breast carcinoma bronchiectasis bronchiolitis bronchus cancer bronchus carcinoma cancer celiac disease central nervous system cancer central nervous system lymphoma cerebral artery occlusion cerebral infarction cerebral malaria cerebrovascular disease childhood lymphoma chronic fatigue syndrome chronic lymphocytic leukemia chronic obstructive pulmonary disease colitis colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma congestive heart failure coronary artery disease coronary thrombosis cribriform carcinoma cystic fibrosis dentin sensitivity diabetes mellitus diabetic cataract diabetic ketoacidosis diabetic retinopathy disease of mental health early myoclonic encephalopathy embryoma encephalitis encephalomyelitis eosinophilic pneumonia epilepsy epithelioid sarcoma essential hypertension focal hand dystonia gallbladder cancer gallbladder carcinoma gallbladder disease gastroenteritis gliosarcoma glucocorticoid-remediable aldosteronism granular cell carcinoma head and neck squamous cell carcinoma hepatic coma hepatic encephalopathy hepatitis B hepatitis C hepatocellular carcinoma high grade glioma hypertension ileitis ileocolitis inclusion body myositis inflammatory bowel disease 1 inflammatory bowel disease influenza intrahepatic cholestasis of pregnancy intrinsic asthma large intestine cancer liver cancer liver cirrhosis liver disease lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung disease lymphoblastic lymphoma lymphoma malaria melanoma migraine mixed glioma multiple sclerosis myelitis myelomeningocele myocardial infarction myocarditis neuroendocrine carcinoma neuroendocrine tumor nodular prostate nutmeg liver obsolete type 1 diabetes mellitus 9 obsolete ymphosarcoma osteoarthritis pancreatitis parapsoriasis plasmacytoma pneumonia polycystic ovary syndrome polycythemia vera polycythemia portal hypertension pre-eclampsia primary cutaneous amyloidosis prostate cancer prostate carcinoma prostatic adenoma psoriasis psychotic disorder pulmonary emphysema pulmonary eosinophilia pustulosis of palm and sole renal osteodystrophy respiratory syncytial virus infectious disease retinal disease retinitis rheumatoid arthritis salivary gland adenoid cystic carcinoma salivary gland cancer sarcoma silent myocardial infarction skin benign neoplasm skin cancer skin melanoma spina bifida spindle cell sarcoma steatotic liver disease stomach cancer stomach carcinoma tethered spinal cord syndrome tongue squamous cell carcinoma transitional cell carcinoma tubular adenocarcinoma type 1 diabetes mellitus 10 type 1 diabetes mellitus 11 type 1 diabetes mellitus 12 type 1 diabetes mellitus 13 type 1 diabetes mellitus 15 type 1 diabetes mellitus 17 type 1 diabetes mellitus 18 type 1 diabetes mellitus 19 type 1 diabetes mellitus 20 type 1 diabetes mellitus 21 type 1 diabetes mellitus 22 type 1 diabetes mellitus 23 type 1 diabetes mellitus 24 type 1 diabetes mellitus 2 type 1 diabetes mellitus 3 type 1 diabetes mellitus 4 type 1 diabetes mellitus 5 type 1 diabetes mellitus 6 type 1 diabetes mellitus 7 type 1 diabetes mellitus 8 type 1 diabetes mellitus type 2 diabetes mellitus ulcerative colitis ureteral obstruction urinary bladder cancer vascular disease viral infectious disease visual epilepsy vitiligo
51478	hydroxysteroid 17-beta dehydrogenase 7	HSD17B7 Aliases: PRAP SDR37C1 short chain dehydrogenase/reductase family 37C, member 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 Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Pick's disease Reye syndrome Zellweger syndrome adenocarcinoma adenoma adrenal gland cancer androgen insensitivity syndrome basal cell carcinoma breast cancer breast carcinoma breast ductal carcinoma cancer carcinoma cerebral degeneration choriocarcinoma colon adenocarcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma diabetes mellitus diabetic ketoacidosis disorder of sexual development duodenum cancer duodenum disease embryoma endometrial adenocarcinoma endometrial cancer endometrial carcinoma endometrial hyperplasia endometriosis of uterus endometriosis esophageal disease follicular adenoma gallbladder cancer gallbladder carcinoma glaucoma goiter heart cancer hereditary breast ovarian cancer syndrome hermaphroditism hyperandrogenism hypogonadotropic hypogonadism 23 with or without anosmia hypospadias invasive ductal carcinoma large intestine cancer leiomyoma microcystic adenoma multiple sclerosis myofibroma nodular prostate ovarian cancer ovarian carcinoma papillary adenoma peroxisomal disease peroxisome biogenesis disorder 1A pheochromocytoma placenta cancer polycystic ovary syndrome primary immunodeficiency disease prolactinoma prostate cancer prostate carcinoma prostatic adenoma pseudohermaphroditism sebaceous carcinoma small intestine cancer sporadic breast cancer steatotic liver disease steroid inherited metabolic disorder stomach cancer stomach carcinoma stomach disease sweat gland cancer thymic carcinoma thymoma thyroid gland disease type 2 diabetes mellitus uterine corpus cancer uterine fibroid
51495	3-hydroxyacyl-CoA dehydratase 3	HACD3 Aliases: B-ind1 HSPC121 Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 3	Homo sapiens (human)	depressive disorder dysthymic disorder major depressive disorder melancholic depression neurotic disorder obsolete melancholia
51548	sirtuin 6	SIRT6	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 Clouston syndrome Hodgkin's granuloma Hodgkin's lymphoma, lymphocytic depletion Hodgkin's lymphoma, lymphocytic-histiocytic predominance Hodgkin's lymphoma, mixed cellularity Hodgkin's lymphoma Huntington's disease-like 1 Huntington's disease-like 2 Huntington's disease Japanese encephalitis Kaposi's sarcoma Laron syndrome Marfan syndrome Pick's disease Reye syndrome Werner syndrome achondroplasia actinic keratosis acute monocytic leukemia acute myeloid leukemia acute myocardial infarction adrenal carcinoma adrenal cortex cancer adrenocortical carcinoma adrenoleukodystrophy alcoholic hepatitis allergic asthma amyotrophic lateral sclerosis anxiety disorder arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy asthma atherosclerosis bacterial sepsis basal cell carcinoma bladder carcinoma bone osteosarcoma breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma cardiovascular system disease central nervous system cancer cerebral degeneration cerebral infarction cerebrovascular disease childhood leukemia childhood osteosarcoma chromophobe renal cell carcinoma chronic apical periodontitis chronic fatigue syndrome chronic kidney disease chronic obstructive pulmonary disease clear cell renal cell carcinoma colitis collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma congestive heart failure coronary artery disease coronary thrombosis cutaneous fibrous histiocytoma degenerative disc disease dengue disease depressive disorder diabetes mellitus diabetic cataract diabetic ketoacidosis diabetic retinopathy disease of metabolism dysthymic disorder embryoma encephalitis encephalomyelitis endometrial cancer endometrial carcinoma esophageal cancer esophageal carcinoma essential hypertension exanthem gallbladder disease gastroenteritis generalized anxiety disorder giant cell glioblastoma glioblastoma gliosarcoma glomerulonephritis glucose intolerance head and neck squamous cell carcinoma heart disease hematologic cancer hepatitis hepatocellular carcinoma hidradenoma high grade glioma hyperglycemia hypertension hypoglycemia idiopathic interstitial pneumonia idiopathic pulmonary fibrosis ileitis ileocolitis intrinsic asthma keratitis keratoconjunctivitis kidney disease kidney hypertrophy large intestine cancer leukemia lipoma liver cancer liver carcinoma liver disease lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lymphopenia major depressive disorder melancholic depression melanoma metabolic dysfunction-associated steatotic liver disease microphthalmia mixed glioma multiple myeloma myelitis myocardial infarction myotonic dystrophy type 1 nasopharynx carcinoma nephritis nephrosis neuroblastoma neurodegenerative disease neurotic disorder nonpapillary renal cell carcinoma nutmeg liver obesity obsolete Matthew-Wood syndrome obsolete melancholia obsolete type 1 diabetes mellitus 9 osteoarthritis osteoporosis osteosarcoma ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma pancreatic ductal adenocarcinoma papillary adenocarcinoma papillary renal cell carcinoma periapical periodontitis phobic disorder pleomorphic lipoma postinflammatory pulmonary fibrosis prediabetes syndrome progeria progressive muscular atrophy prostate cancer prostate carcinoma psoriatic arthritis pulmonary fibrosis pulpitis pyoureter renal carcinoma renal cell carcinoma rheumatoid arthritis sarcomatoid carcinoma sarcomatoid renal cell carcinoma seborrheic keratosis silent myocardial infarction situs inversus skin benign neoplasm skin cancer skin disease skin melanoma skin papilloma skin squamous cell carcinoma skin tag sporadic breast cancer squamous cell carcinoma steatotic liver disease stomach cancer stomach carcinoma syringoma thyroid gland papillary carcinoma tongue squamous cell carcinoma transient cerebral ischemia transitional cell carcinoma tuberculosis 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 type 2 diabetes mellitus urinary bladder cancer uterine corpus cancer vertebrobasilar insufficiency viral infectious disease yellow fever
51604	phosphatidylinositol glycan anchor biosynthesis class T	PIGT Aliases: GPI transamidase component PIG-T GPI transamidase subunit PIG-T	Homo sapiens (human)	Marfan syndrome angioedema blindness brain disease breast cancer breast carcinoma calcinosis calcium metabolism disease cerebral degeneration congenital nystagmus craniosynostosis cystic kidney disease dermatographia diarrhea dissociated nystagmus epilepsy esotropia fibromyalgia hemolytic anemia hypercalcemia hyperopia hypertropia hypophosphatasia mechanical strabismus monocular esotropia multiple congenital anomalies-hypotonia-seizures syndrome 3 myositis nephrocalcinosis non-congenital cyst of kidney ophthalmoplegia osteoporosis paroxysmal nocturnal hemoglobinuria patent ductus arteriosus pathologic nystagmus phosphorus metabolism disease restrictive cardiomyopathy scoliosis situs inversus spontaneous ocular nystagmus strabismus tuberous sclerosis urticaria visual epilepsy
51700	cytochrome b5 reductase 2	CYB5R2	Homo sapiens (human)	cancer giant cell glioblastoma glioblastoma nasopharynx carcinoma prostate cancer prostate carcinoma
51703	acyl-CoA synthetase long chain family member 5	ACSL5 Aliases: ACS2 ACS5 FACL5 for fatty acid coenzyme A ligase 5 fatty-acid-Coenzyme A ligase, long-chain 5 long-chain acyl-CoA synthetase 5 long-chain fatty acid coenzyme A ligase 5	Homo sapiens (human)	acute chest syndrome acute myeloid leukemia acute myocardial infarction adenocarcinoma adenoma anaplastic astrocytoma basal cell carcinoma breast cancer breast carcinoma cancer carcinoma celiac disease central nervous system cancer childhood cerebral astrocytoma colorectal cancer colorectal carcinoma congenital diarrhea congestive heart failure coronary thrombosis cribriform carcinoma embryoma endometrial carcinoma essential thrombocythemia familial hyperlipidemia fibrillary astrocytoma gemistocytic astrocytoma giant cell glioblastoma glioblastoma gliosarcoma granular cell carcinoma hematologic cancer high grade glioma juvenile pilocytic astrocytoma large intestine cancer lung benign neoplasm lung carcinoma malignant astrocytoma migraine mixed glioma myelodysplastic syndrome myocardial infarction obesity pilocytic astrocytoma protoplasmic astrocytoma sarcomatoid carcinoma sebaceous carcinoma silent myocardial infarction steatotic liver disease subependymal giant cell astrocytoma sweat gland cancer systemic lupus erythematosus tubular adenocarcinoma
51706	cytochrome b5 reductase 1	CYB5R1 Aliases: humb5R2	Homo sapiens (human)	cancer colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma large intestine cancer
51738	ghrelin and obestatin prepropeptide	GHRL	Homo sapiens (human)	Prader-Willi syndrome cardiovascular system disease diabetic neuropathy end stage renal disease esophagus adenocarcinoma middle cerebral artery infarction morbid obesity multiple endocrine neoplasia obesity obstructive sleep apnea type 2 diabetes mellitus
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
51805	coenzyme Q3, methyltransferase	COQ3	Homo sapiens (human)
51809	polypeptide N-acetylgalactosaminyltransferase 7	GALNT7 Aliases: GALNAC-T7 polypeptide GalNAc transferase 7	Homo sapiens (human)	arteriosclerotic cardiovascular disease atherosclerosis cancer central nervous system cancer cervical adenocarcinoma cervical cancer cervix carcinoma colorectal cancer colorectal carcinoma coronary artery disease embryoma esophagus squamous cell carcinoma giant cell glioblastoma glioblastoma gliosarcoma high grade glioma large intestine cancer laryngeal squamous cell carcinoma mixed glioma nasopharynx carcinoma
53632	protein kinase AMP-activated non-catalytic subunit gamma 3	PRKAG3	Homo sapiens (human)	Wolff-Parkinson-White syndrome lethal congenital glycogen storage disease of heart neurodegenerative disease
53942	contactin 5	CNTN5 Aliases: NB-2 hNB-2	Homo sapiens (human)	Behcet's disease Hirschsprung's disease Parkinson's disease 2 anorexia nervosa atrial fibrillation attention deficit hyperactivity disorder autism spectrum disorder autistic disorder bipolar disorder communicating hydrocephalus congestive heart failure depressive disorder differentiated thyroid gland carcinoma essential hypertension gout hydrocephalus hypertension major depressive disorder melancholic depression neurotic disorder obsolete melancholia obstructive hydrocephalus primary biliary cholangitis schizophrenia senile degeneration of brain
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
54187	N-acetylneuraminate synthase	NANS	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 abdominal obesity-metabolic syndrome 1 acute myocardial infarction anxiety disorder arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis atrial fibrillation attention deficit hyperactivity disorder bone cancer bone osteosarcoma breast cancer breast carcinoma cancer central nervous system cancer cerebral degeneration cerebral infarction cerebrovascular disease childhood osteosarcoma communicating hydrocephalus congenital central hypoventilation syndrome congenital nystagmus congestive heart failure connective tissue benign neoplasm coronary artery disease coronary thrombosis craniosynostosis depressive disorder diabetes mellitus dissociated nystagmus dysthymic disorder embryoma epilepsy epithelioid sarcoma esophageal cancer esophageal carcinoma essential thrombocythemia generalized anxiety disorder gestational diabetes giant cell glioblastoma glioblastoma gliosarcoma head and neck cancer head and neck squamous cell carcinoma hepatitis B hepatocellular carcinoma high grade glioma hydrocephalus hypertrichosis inflammatory liposarcoma intellectual disability learning disability liposarcoma liver cancer liver cirrhosis major depressive disorder malignant fibrous histiocytoma melancholic depression microcephaly mixed glioma mixed sleep apnea mucopolysaccharidosis IV multiple epiphyseal dysplasia myelodysplastic syndrome myocardial infarction neuroblastoma neurotic disorder obesity obsolete melancholia obstructive hydrocephalus obstructive sleep apnea osteochondrodysplasia osteomyelitis osteosarcoma parapsoriasis pathologic nystagmus peripheral osteosarcoma phobic disorder pleomorphic adenoma pleomorphic liposarcoma polycystic ovary syndrome premenstrual tension prostate cancer prostate carcinoma psoriasis pustulosis of palm and sole restless legs syndrome rhabdomyosarcoma sarcoma sclerosing liposarcoma silent myocardial infarction skin disease sleep apnea social phobia spindle cell sarcoma spondyloepimetaphyseal dysplasia, Genevieve-type spontaneous ocular nystagmus squamous cell carcinoma stomach cancer stomach carcinoma syndromic X-linked intellectual disability 94 synovial sarcoma tongue cancer tongue squamous cell carcinoma type 2 diabetes mellitus well-differentiated liposarcoma
54206	ERBB receptor feedback inhibitor 1	ERRFI1	Homo sapiens (human)	endometrial cancer osteoarthritis
54344	dolichyl-phosphate mannosyltransferase subunit 3, regulatory	DPM3 Aliases: DPM synthase complex subunit MGC125904 MGC125905 MGC34275	Homo sapiens (human)	Duchenne muscular dystrophy 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 cardiomyopathy clubfoot congenital disorder of glycosylation type I congenital muscular dystrophy distal myopathy endomyocardial fibrosis facioscapulohumeral muscular dystrophy hypertrophic cardiomyopathy isolated elevated serum creatine phosphokinase levels limb-girdle muscular dystrophy muscular dystrophy-dystroglycanopathy type B15 muscular dystrophy 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 rippling muscle disease 2

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