GlyCosmos Portal

Homo sapiens (human)

Summary

Taxonomy ID: 9606
PubChem Taxonomy: 9606

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

Displaying entries **976 - 1000** of **1582** in total

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Gene ID ▲	Gene Name	Gene Symbol	Disease Ontology
27230	stress associated endoplasmic reticulum protein 1	SERP1
27232	glycine N-methyltransferase	GNMT	glycine N-methyltransferase deficiency hepatocellular carcinoma
27235	coenzyme Q2, polyprenyltransferase	COQ2	coenzyme Q10 deficiency disease glucose intolerance multiple system atrophy nephrotic syndrome primary coenzyme Q10 deficiency 1
27248	endoplasmic reticulum lectin 1	ERLEC1 CL25084 ERLECTIN XTP3-B XTP3TPB erlectin 1	anorexia nervosa bronchus cancer bronchus carcinoma cancer cholestasis lung benign neoplasm lung cancer lung carcinoma spinal cord disease syringomyelia
27255	contactin 6	CNTN6 NB-3 neural adhesion molecule	Gilles de la Tourette syndrome Hirschsprung's disease Parkinson's disease 2 acquired immunodeficiency syndrome adenoid cystic carcinoma alcohol dependence alcohol use disorder anorexia nervosa attention deficit hyperactivity disorder autism spectrum disorder autistic disorder bipolar disorder breast cancer communicating hydrocephalus cone-rod dystrophy 2 cone-rod dystrophy differentiated thyroid gland carcinoma epilepsy hydrocephalus intellectual disability learning disability obstructive hydrocephalus ovarian carcinoma salivary gland adenoid cystic carcinoma schizophrenia senile degeneration of brain systemic lupus erythematosus
27293	sphingomyelin phosphodiesterase acid like 3B	SMPDL3B ASML3B	Moyamoya disease focal segmental glomerulosclerosis glomerulonephritis kidney disease nephritis nephrosis pyoureter
27294	dihydrodiol dehydrogenase	DHDH HUM2DD trans-1,2-dihydrobenzene-1,2-diol dehydrogenase	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
27306	hematopoietic prostaglandin D synthase	HPGDS GSTS GSTS1 GSTS1-1 H-PGDS PGD2 PGDS glutathione S-transferase sigma	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 Bell's palsy Burkitt lymphoma Crohn's colitis Crohn's disease Down syndrome Duchenne muscular dystrophy Fanconi anemia complementation group A Fanconi anemia Friedreich ataxia 1 Friedreich ataxia Gilles de la Tourette syndrome HELLP 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 Kuhnt-Junius degeneration Langerhans-cell histiocytosis Loeffler syndrome Lyme disease Meniere's disease Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Pick's disease Plasmodium vivax malaria Reye syndrome Richter's syndrome Sertoli cell-only syndrome T-cell acute lymphoblastic leukemia X-linked ichthyosis X-linked lymphoproliferative syndrome 1 X-linked lymphoproliferative syndrome 2 Y-linked spermatogenic failure 1 Zollinger-Ellison syndrome abdominal obesity-metabolic syndrome 1 acoustic neuroma acquired immunodeficiency syndrome acrodermatitis acute biphenotypic leukemia acute leukemia acute lymphoblastic leukemia acute monocytic leukemia acute myeloid leukemia acute myocardial infarction adenocarcinoma adenoma adenosarcoma adrenoleukodystrophy adult acute lymphocytic leukemia adult lymphoma adult medulloblastoma adult respiratory distress syndrome age related macular degeneration alcohol dependence alcohol use disorder alcoholic hepatitis alcoholic liver cirrhosis alcoholic pancreatitis allergic asthma alopecia alternating hemiplegia of childhood amyotrophic lateral sclerosis anaplastic astrocytoma androgenic alopecia angioedema angiomatous meningioma anthracosilicosis aortic valve insufficiency aplastic anemia arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy asbestosis asthma atherosclerosis atopic dermatitis atypical chronic myeloid leukemia, BCR-ABL1 negative autism spectrum disorder autistic disorder autoimmune disease autoimmune hepatitis autoimmune lymphoproliferative syndrome autonomic neuropathy autosomal dominant Emery-Dreifuss muscular dystrophy 2 autosomal dominant cerebellar ataxia 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 azoospermia basal cell carcinoma benign meningioma benign mesothelioma beta thalassemia bipolar disorder bladder carcinoma bladder urothelial carcinoma bone cancer bone osteosarcoma brain cancer brain disease brain stem infarction breast cancer breast carcinoma breast ductal carcinoma bronchiolo-alveolar adenocarcinoma bronchitis bronchus cancer bronchus carcinoma byssinosis cancer carcinoma cardiac arrest cardiomyopathy cardiovascular system disease carotid artery disease cataract celiac disease central nervous system cancer central nervous system disease central nervous system lymphoma cerebellar ataxia, mental retardation and dysequlibrium syndrome cerebral artery occlusion cerebral convexity meningioma cerebral degeneration cerebral infarction cerebral primitive neuroectodermal tumor cerebrovascular disease cervical adenocarcinoma cervical cancer cervix carcinoma cervix disease cervix uteri carcinoma in situ childhood acute lymphocytic leukemia childhood acute myeloid leukemia childhood cerebral astrocytoma childhood disintegrative disease childhood leukemia childhood lymphoma childhood medulloblastoma childhood osteosarcoma childhood testicular germ cell tumor chromophobe renal cell carcinoma chronic ethmoiditis chronic fatigue syndrome chronic kidney disease chronic lymphocytic leukemia chronic monocytic leukemia chronic myeloid leukemia chronic obstructive pulmonary disease chronic sphenoidal sinusitis clear cell meningioma clear cell renal cell carcinoma colitis collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma common wart congenital heart disease congenital muscular dystrophy congestive heart failure coronary artery disease coronary thrombosis craniosynostosis cribriform carcinoma cryptorchidism cystic fibrosis cystinuria degeneration of macula and posterior pole dementia dental fluorosis depressive disorder dermatitis diabetes mellitus diabetic ketoacidosis diastrophic dysplasia diffuse large B-cell lymphoma distal myopathy drug psychosis dry eye syndrome dysthymic disorder embryoma embryonal cancer encephalitis encephalomyelitis endolymphatic hydrops endometrial cancer endometrial carcinoma endometriosis of uterus endometriosis endomyocardial fibrosis enterobiasis eosinophilic pneumonia epilepsy esophageal cancer esophageal carcinoma esophageal disease esophagitis esophagus adenocarcinoma esophagus squamous cell carcinoma essential hypertension essential thrombocythemia essential tremor exanthem exanthema subitum exfoliation syndrome exocrine pancreatic insufficiency extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue facial nerve disease facial paralysis facioscapulohumeral muscular dystrophy familial adenomatous polyposis 1 familial adenomatous polyposis familial periodic paralysis familial retinoblastoma fascioliasis female reproductive organ cancer fibrillary astrocytoma fibromyalgia fibrous meningioma fissured tongue follicular adenoma follicular lymphoma galactosemia gallbladder cancer gallbladder carcinoma gallbladder disease gastric adenocarcinoma gastric lymphoma gastritis gastroenteritis gastroesophageal junction adenocarcinoma gastroesophageal reflux disease gastrointestinal system cancer gemistocytic astrocytoma generalized atherosclerosis geographic tongue germ cell and embryonal cancer germ cell cancer germinoma giant cell glioblastoma glaucoma glioblastoma gliosarcoma glucosephosphate dehydrogenase deficiency glycogen storage disease II glycogen storage disease Ia glycogen storage disease granular cell carcinoma head and neck cancer head and neck squamous cell carcinoma heart disease hematologic cancer hemochromatosis type 1 hemochromatosis hemolytic anemia hepatitis A hepatitis B hepatitis C hepatitis E hepatitis hepatocellular carcinoma hereditary sensory and autonomic neuropathy type 5 heroin dependence high grade glioma human immunodeficiency virus infectious disease hypereosinophilic syndrome hyperglycemia hyperinsulinism hypertension hypertrophic cardiomyopathy hypothalamic disease idiopathic interstitial pneumonia ileitis ileocolitis immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome immune system disease inflammatory bowel disease 1 inflammatory bowel disease intestinal benign neoplasm intestinal cancer intestinal schistosomiasis intestinal volvulus intraorbital meningioma intraventricular meningioma intrinsic asthma invasive ductal carcinoma islet cell tumor juvenile pilocytic astrocytoma keratosis follicularis keratosis kidney cancer kwashiorkor large intestine cancer laryngeal benign neoplasm laryngeal carcinoma laryngeal disease laryngeal squamous cell carcinoma larynx cancer leiomyoma leukemia leukopenia lichen disease limb-girdle muscular dystrophy lingual-facial-buccal dyskinesia lipoid nephrosis liver cancer liver carcinoma liver cirrhosis liver disease lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung disease lung non-small cell carcinoma lung small cell carcinoma lung squamous cell carcinoma lymphoblastic lymphoma lymphoid leukemia lymphoma lymphoplasmacyte-rich meningioma macular degeneration major depressive disorder malaria male infertility malignant astrocytoma malignant mesothelioma mantle cell lymphoma marasmus medulloblastoma medulloepithelioma medullomyoblastoma melancholic depression melanoma melanotic medulloblastoma membranous glomerulonephritis meningioma meningothelial meningioma microcystic adenoma microcystic meningioma migraine without aura mixed glioma mongolian spot mood disorder mucoepidermoid carcinoma multiple myeloma multiple sclerosis muscular dystrophy myelitis myelodysplastic syndrome myeloid leukemia myocardial infarction myofibrillar myopathy 1 myofibrillar myopathy 3 myofibroma myopathy myositis nasopharynx carcinoma neonatal jaundice neovascular inflammatory vitreoretinopathy nephroblastoma nephrolithiasis nervous system disease neuroblastoma neurodegenerative disease neuroectodermal tumor neuropathy neurotic disorder newborn respiratory distress syndrome nicotine dependence nodular prostate non-Hodgkin lymphoma nonpapillary renal cell carcinoma nutmeg liver nutrition disease obesity 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 embryonal Tumor with Multilayered Rosettes, C19MC-Altered obsolete melancholia obsolete type 1 diabetes mellitus 9 obsolete ymphosarcoma oculopharyngeal muscular dystrophy olfactory groove meningioma oligospermia onchocerciasis oral mucosa leukoplakia osteoarthritis osteoporosis osteosarcoma ovarian cancer ovarian carcinoma pancreatic adenocarcinoma pancreatic cancer pancreatic carcinoma papillary adenocarcinoma papillary adenoma papillary renal cell carcinoma parapsoriasis parasagittal meningioma parathyroid gland disease peptic esophagitis periodontitis peripheral nervous system disease pilocytic astrocytoma pituitary adenoma plasmacytoma pleomorphic adenoma pneumonia polycystic ovary syndrome polycythemia vera polycythemia polyneuropathy porphyria cutanea tarda postinflammatory pulmonary fibrosis pre-eclampsia primary biliary cholangitis primary cutaneous amyloidosis primary open angle glaucoma primary pulmonary hypertension progressive multifocal leukoencephalopathy progressive muscular atrophy prostate adenocarcinoma prostate cancer prostate carcinoma prostatic adenoma protein-energy malnutrition protoplasmic astrocytoma psammomatous meningioma pseudoxanthoma elasticum psoriasis psychotic disorder pulmonary fibrosis pure red-cell aplasia pustulosis of palm and sole rectal benign neoplasm rectum adenocarcinoma rectum cancer renal carcinoma renal cell carcinoma respiratory syncytial virus infectious disease reticulosarcoma retinoblastoma rheumatoid arthritis rhinitis rippling muscle disease 2 rubella sarcomatoid carcinoma sarcomatoid renal cell carcinoma schistosomiasis schizoaffective disorder schizophrenia schizophreniform disorder scleroderma scurvy secondary Parkinson disease secretory meningioma seminoma senile cataract sensorineural hearing loss sialuria sickle cell anemia silent myocardial infarction skin benign neoplasm skin cancer skin carcinoma skin melanoma skin squamous cell carcinoma small intestine adenocarcinoma spinal meningioma spinocerebellar ataxia type 2 sporadic breast cancer squamous cell carcinoma squamous cell neoplasm steatotic liver disease stomach cancer stomach carcinoma stomach disease subependymal giant cell astrocytoma sudden infant death syndrome supratentorial primitive neuroectodermal tumor systemic lupus erythematosus systemic scleroderma tarsal-carpal coalition syndrome testicular cancer testicular germ cell cancer testicular malignant germ cell cancer testis seminoma thalassemia thyroid adenoma thyroid cancer thyroid gland carcinoma thyroid gland papillary carcinoma tongue disease tongue squamous cell carcinoma tracheal disease transitional cell carcinoma transitional meningioma trichinosis trilateral retinoblastoma tuberculosis 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 uric acid nephrolithiasis urinary bladder cancer urticaria uterine corpus cancer uterine fibroid varicocele visual epilepsy vitiligo white sponge nevus 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 xerophthalmia
27315	post-GPI attachment to proteins 2	PGAP2 CWH43-N FGF receptor activating protein 1 FRAG1 cell wall biogenesis 43 N-terminal homolog (S. cerevisiae)	Beckwith-Wiedemann syndrome CLOVES syndrome Cogan syndrome Hirschsprung's disease Perlman syndrome Sotos syndrome Unverricht-Lundborg syndrome blepharospasm bone osteosarcoma cancer capillary disease childhood osteosarcoma cleft palate craniosynostosis diffuse interstitial keratitis early myoclonic encephalopathy embryoma esotropia focal hand dystonia hereditary hemorrhagic telangiectasia hydronephrosis hyperopia hyperphosphatasia with impaired intellectual development syndrome 3 hyperphosphatemia intellectual disability isolated cleft palate learning disability monocular esotropia oligohydramnios osteosarcoma scoliosis sensorineural hearing loss syndromic X-linked intellectual disability 94 telangiectasis visual epilepsy
27329	angiopoietin like 3	ANGPTL3	alcohol use disorder familial hypobetalipoproteinemia 2
27349	malonyl-CoA-acyl carrier protein transacylase	MCAT FASN2C MCT MCT1 MT NET62 [acyl-carrier-protein] S-malonyltransferase fabD	B-cell lymphoma Barrett's esophagus Burkitt lymphoma Langerhans-cell histiocytosis Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Richter's syndrome abdominal aortic aneurysm abdominal obesity-metabolic syndrome 1 actinic keratosis acute myeloid leukemia adenocarcinoma adenoma adult lymphoma benign mastocytoma bladder carcinoma bone osteosarcoma borderline personality disorder brain disease breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma cardiomyopathy central nervous system lymphoma cervical adenocarcinoma cervical cancer cervix carcinoma childhood lymphoma childhood osteosarcoma choriocarcinoma chromophobe renal cell carcinoma chronic lymphocytic leukemia clear cell renal cell carcinoma collecting duct carcinoma colorectal cancer colorectal carcinoma congestive heart failure cribriform carcinoma depressive disorder diabetes mellitus diffuse large B-cell lymphoma distal arthrogryposis dysthymic disorder embryoma endomyocardial fibrosis epilepsy esophagus adenocarcinoma esophagus squamous cell carcinoma essential hypertension extracutaneous mastocytoma exudative vitreoretinopathy 1 exudative vitreoretinopathy familial hyperinsulinemic hypoglycemia 1 familial hyperinsulinemic hypoglycemia 2 familial medullary thyroid carcinoma follicular lymphoma gastrointestinal stromal tumor gestational diabetes giant cell glioblastoma glioblastoma granular cell carcinoma hepatocellular carcinoma high grade glioma hyperglycemia hyperinsulinemic hypoglycemia hypertension hypertrophic cardiomyopathy idiopathic generalized epilepsy inflammatory bowel disease insulinoma intermittent explosive disorder invasive ductal carcinoma large intestine cancer liver cancer lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lymphoma major depressive disorder malaria malignant pleural mesothelioma mast cell neoplasm mastocytosis melancholic depression melanoma microphthalmia multiple endocrine neoplasia type 2A multiple myeloma neuroblastoma neurotic disorder non-Hodgkin lymphoma nonpapillary renal cell carcinoma obesity obsolete Matthew-Wood syndrome obsolete melancholia obsolete ymphosarcoma optic atrophy osteomalacia osteosarcoma ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma papillary adenocarcinoma papillary renal cell carcinoma placenta cancer premenstrual tension primary hyperparathyroidism primary pulmonary hypertension prostate cancer prostate carcinoma renal carcinoma renal cell carcinoma reticulosarcoma retinopathy of prematurity rickets sarcomatoid carcinoma sarcomatoid renal cell carcinoma schizophrenia skin melanoma squamous cell carcinoma steatotic liver disease stomach cancer stomach carcinoma thyroid gland medullary carcinoma thyroid gland papillary carcinoma tongue squamous cell carcinoma tubular adenocarcinoma type 2 diabetes mellitus urinary bladder cancer urticaria pigmentosa visual epilepsy
27430	methionine adenosyltransferase 2 non-catalytic beta subunit	MAT2B
28992	mono-ADP ribosylhydrolase 1	MACROD1 LRP16	acute monocytic leukemia atypical chronic myeloid leukemia, BCR-ABL1 negative bipolar disorder breast cancer breast carcinoma cancer cardiovascular system disease childhood leukemia chronic monocytic leukemia colorectal cancer colorectal carcinoma disease of metabolism embryoma endometrial cancer endometrial carcinoma gout heart disease hepatocellular carcinoma large intestine cancer leukemia liver cancer lymphoid leukemia monocytic leukemia myeloid leukemia nicotine dependence pancreatic cancer pancreatic carcinoma prolactinoma uterine corpus cancer
29071	C1GALT1 specific chaperone 1	C1GALT1C1 C1GALT2 COSMC	IgA glomerulonephritis Tn polyagglutination syndrome angioma serpiginosum autoimmune disease autoimmune lymphoproliferative syndrome cancer capillary hemangioma cavernous hemangioma chorioangioma colon cancer colonic benign neoplasm colorectal cancer colorectal carcinoma embryoma endometrial cancer endometrial carcinoma glomerulonephritis glomus tumor hemangioma hemolytic-uremic syndrome hepatocellular carcinoma histiocytoid hemangioma immune system disease inflammatory bowel disease intramuscular hemangioma kidney disease large intestine cancer liver cancer lymphangioma microphthalmia nephritis nephrosis obsolete Matthew-Wood syndrome pancreatic cancer pancreatic carcinoma pyoureter uterine corpus cancer vitiligo
29095	ORMDL sphingolipid biosynthesis regulator 2	ORMDL2 HSPC160 MST095 MSTP095 adoplin-2	allergic asthma asthma intrinsic asthma
29880	ALG5 dolichyl-phosphate beta-glucosyltransferase	ALG5 bA421P11.2	congenital disorder of glycosylation type I polycystic kidney disease
29906	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	ST8SIA5 ST8Sia V	idiopathic scoliosis
29925	GDP-mannose pyrophosphorylase B	GMPPB KIAA1851 mannose-1-phosphate guanyltransferase beta	Bell's palsy Duchenne muscular dystrophy Fukuyama congenital muscular dystrophy Lambert-Eaton myasthenic syndrome Walker-Warburg syndrome agnosia amblyopia 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 centronuclear myopathy cleft palate clubfoot coloboma communicating hydrocephalus cone-rod dystrophy congenital muscular dystrophy-dystroglycanopathy A14 congenital muscular dystrophy-dystroglycanopathy type A1 congenital muscular dystrophy congenital myasthenic syndrome congenital nystagmus congenital ptosis congenital structural myopathy cryptorchidism developmental coordination disorder dissociated nystagmus distal myopathy endomyocardial fibrosis epilepsy esotropia facial nerve disease facial paralysis facioscapulohumeral muscular dystrophy familial periodic paralysis fundus albipunctatus glaucoma holoprosencephaly 1 holoprosencephaly hydrocephalus hypertrophic cardiomyopathy hypertropia idiopathic generalized epilepsy intellectual disability isolated cleft palate isolated elevated serum creatine phosphokinase levels learning disability limb-girdle muscular dystrophy mechanical strabismus megalocornea meningocele microcephaly microphthalmia monocular esotropia muscular dystrophy-dystroglycanopathy type B14 muscular dystrophy-dystroglycanopathy type B1 muscular dystrophy-dystroglycanopathy muscular dystrophy myofibrillar myopathy 1 myofibrillar myopathy 3 myopathy 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 oligohydramnios ophthalmoplegia optic atrophy pathologic nystagmus ptosis retinal detachment retinitis pigmentosa rippling muscle disease 2 scoliosis senile degeneration of brain sensorineural hearing loss speech disorder spontaneous ocular nystagmus strabismic amblyopia strabismus syndromic X-linked intellectual disability 94 visual epilepsy
29926	GDP-mannose pyrophosphorylase A	GMPPA	Addison's disease Down syndrome Laron syndrome achalasia achondroplasia adrenal cortical hypofunction alacrima, achalasia, and impaired intellectual development syndrome blindness coloboma epilepsy intellectual disability learning disability megaesophagus microcephaly nonepidermolytic palmoplantar keratoderma optic atrophy palmoplantar keratosis sensorineural hearing loss triple-A syndrome visual epilepsy
29929	ALG6 alpha-1,3-glucosyltransferase	ALG6 dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase	antithrombin III deficiency congenital disorder of glycosylation Ia congenital disorder of glycosylation Ic congenital disorder of glycosylation type I congenital disorder of glycosylation epilepsy hypertropia mechanical strabismus ophthalmoplegia protein C deficiency protein S deficiency strabismus thrombophilia visual epilepsy
29940	dermatan sulfate epimerase	DSE DS-Epi1 DSEPI	Ehlers-Danlos syndrome musculocontractural type 2 Ehlers-Danlos syndrome 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 breast cancer breast carcinoma cancer cardiovascular system disease cerebral degeneration clubfoot craniosynostosis diabetes mellitus diabetic ketoacidosis embryoma fibromyalgia gastroschisis heart disease hepatocellular carcinoma inguinal hernia liver cancer mitral valve insufficiency mitral valve prolapse myositis osteogenesis imperfecta patent foramen ovale postural orthostatic tachycardia syndrome type 2 diabetes mellitus
29954	protein O-mannosyltransferase 2	POMT2 Dolichyl-phosphate-mannose--protein mannosyltransferase LGMD2N	Axenfeld-Rieger syndrome Bell's palsy Dandy-Walker syndrome Duchenne muscular dystrophy Fukuyama congenital muscular dystrophy Joubert syndrome Marfan syndrome Miller-Dieker lissencephaly syndrome Peters anomaly Walker-Warburg syndrome X-linked dilated cardiomyopathy 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 buphthalmos campomelic dysplasia cancer cataract cleft lip cleft palate coloboma communicating hydrocephalus complex cortical dysplasia with other brain malformations 1 complex cortical dysplasia with other brain malformations 7 cone-rod dystrophy congenital muscular dystrophy-dystroglycanopathy type A1 congenital muscular dystrophy-dystroglycanopathy type A2 congenital muscular dystrophy cornea plana cortical dysplasia-focal epilepsy syndrome craniometaphyseal dysplasia cryptorchidism cystic kidney disease developmental coordination disorder 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 distal myopathy embryoma epilepsy facial nerve disease facial paralysis facioscapulohumeral muscular dystrophy familial periodic paralysis fundus albipunctatus glaucoma holoprosencephaly 1 holoprosencephaly hydranencephaly hydrocephalus hydrophthalmos hyperopia hypertropia imperforate anus intellectual disability isolated cleft palate isolated elevated serum creatine phosphokinase levels learning disability limb-girdle muscular dystrophy lissencephaly mechanical strabismus megalocornea meningocele microcephaly microphthalmia muscular dystrophy-dystroglycanopathy type B1 muscular dystrophy-dystroglycanopathy type B2 muscular dystrophy-dystroglycanopathy muscular dystrophy myofibrillar myopathy 1 myofibrillar myopathy 3 myopathy 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 peripheral retinal degeneration pontocerebellar hypoplasia type 2D pontocerebellar hypoplasia type 7 pontocerebellar hypoplasia type 8 pontocerebellar hypoplasia type 9 recurrent corneal erosion renal agenesis retinal detachment retinitis pigmentosa rippling muscle disease 2 scoliosis senile degeneration of brain septooptic dysplasia short-rib thoracic dysplasia 14 with polydactyly situs inversus speech disorder strabismus syndromic X-linked intellectual disability 94 syndromic X-linked intellectual disability Najm type tuberous sclerosis visual epilepsy
29956	ceramide synthase 2	CERS2 FLJ10243 SP260	bladder carcinoma breast cancer breast carcinoma cancer carcinoma cardiovascular system disease chronic fatigue syndrome chronic kidney disease colitis diabetes mellitus diabetic ketoacidosis embryoma encephalitis encephalomyelitis gastroenteritis giant cell glioblastoma glioblastoma heart disease high grade glioma hyperglycemia ileitis ileocolitis inflammatory bowel disease melanoma multiple sclerosis myelitis papillary adenocarcinoma papillary renal cell carcinoma primary cutaneous amyloidosis prostate cancer prostate carcinoma sarcomatoid carcinoma sciatic neuropathy skin melanoma steatotic liver disease thyroid gland papillary carcinoma type 2 diabetes mellitus urinary bladder cancer
29988	solute carrier family 2 member 8	SLC2A8 GLUT8 GLUTX1	cancer congenital hypothyroidism diabetic ketoacidosis hypothyroidism multiple myeloma myxedema obsolete type 1 diabetes mellitus 9 steatotic liver disease 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
30814	phospholipase A2 group IIE	PLA2G2E	atopic dermatitis benign mastocytoma dermatitis extracutaneous mastocytoma indolent systemic mastocytosis mast cell neoplasm mastocytosis obesity

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