GlyCosmos Portal

Homo sapiens (human)

Summary

Taxonomy ID: 9606
PubChem Taxonomy: 9606

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

Displaying entries **501 - 525** of **1582** in total

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Gene ID	Gene Name	Gene Symbol	Disease Ontology ▲
53942	contactin 5	CNTN5 NB-2 hNB-2	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
1557	cytochrome P450 family 2 subfamily C member 19	CYP2C19 CPCJ P450IIC19	Behcet's disease Keshan disease Laron syndrome Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Plasmodium falciparum malaria SADDAN Schwartz-Jampel syndrome 1 Stevens-Johnson syndrome Sveinsson chorioretinal atrophy Unverricht-Lundborg syndrome abdominal obesity-metabolic syndrome 1 achondroplasia acute chest syndrome acute kidney failure acute lymphoblastic leukemia acute monocytic leukemia acute myocardial infarction age related macular degeneration agranulocytosis alcoholic liver cirrhosis allergic asthma androgen insensitivity syndrome anxiety disorder arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease aspergillosis asthma atherosclerosis atrial fibrillation atrophic gastritis autism spectrum disorder autistic disorder autoimmune disease autoimmune hepatitis autoimmune lymphoproliferative syndrome biliary tract cancer black piedra bladder carcinoma blepharospasm brain stem infarction breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer cardiomyopathy cardiovascular system disease carotid artery thrombosis carotid stenosis cerebral artery occlusion cerebral infarction cerebrovascular disease cholestasis chronic kidney disease coccidioidomycosis colorectal cancer colorectal carcinoma common cold congenital adrenal hyperplasia congenital diaphragmatic hernia congenital intrinsic factor deficiency congestive heart failure coronary artery disease coronary thrombosis cystic fibrosis degeneration of macula and posterior pole depressive disorder developmental and epileptic encephalopathy 2 diabetes mellitus diabetic ketoacidosis diarrhea dilated cardiomyopathy disease of mental health disease of metabolism duodenal ulcer dysthymic disorder early infantile epileptic encephalopathy early myoclonic encephalopathy embryoma endometriosis of uterus endometriosis endomyocardial fibrosis eosinophilic esophagitis epilepsy erythema multiforme esophageal cancer esophageal carcinoma esophagitis esophagus squamous cell carcinoma essential hypertension essential tremor eye disease familial hyperlipidemia familial nephrotic syndrome focal hand dystonia gallbladder disease gastric ulcer gastritis gastroesophageal reflux disease gastrointestinal system cancer generalized anxiety disorder glomerulonephritis head and neck cancer head and neck squamous cell carcinoma heart disease hematologic cancer hepatitis A hepatitis B hepatitis C hepatitis hepatocellular carcinoma heroin dependence hiatus hernia histoplasmosis hypereosinophilic syndrome hypertension hypertrophic cardiomyopathy hypochondroplasia immune system disease inclusion body myositis inflammatory bowel disease 1 inflammatory bowel disease intermediate coronary syndrome intermittent claudication intracranial aneurysm intrinsic asthma invasive aspergillosis kidney disease kidney failure large intestine cancer laryngeal carcinoma larynx cancer leukopenia lipoid nephrosis liver cancer liver cirrhosis liver disease lobular neoplasia lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lupus nephritis macular degeneration major depressive disorder malaria melancholic depression multiple chemical sensitivity multiple epiphyseal dysplasia multiple myeloma multiple sclerosis myocardial infarction nephritis nephrosis nephrotic syndrome neurotic disorder neutropenia nutmeg liver obsessive-compulsive disorder obsolete dyspepsia obsolete infantile epileptic encephalopathy obsolete melancholia osteochondrodysplasia pancreatic cancer pancreatic carcinoma panic disorder parapsoriasis patent ductus arteriosus peptic esophagitis peptic ulcer disease peripheral vascular disease pharyngitis phobic disorder premature menopause primary open angle glaucoma primary ovarian insufficiency prostate cancer prostate carcinoma psoriasis psoriatic arthritis psychotic disorder pustulosis of palm and sole pyoureter retinal disease retinitis rheumatoid arthritis schizophrenia severe congenital neutropenia sickle cell anemia silent myocardial infarction sporotrichosis squamous cell carcinoma stomach cancer stomach carcinoma substance abuse substance-related disorder sudden infant death syndrome superficial mycosis systemic lupus erythematosus tongue squamous cell carcinoma transient cerebral ischemia tuberculosis type 2 diabetes mellitus ulcerative colitis urinary bladder cancer vasculitis vertebrobasilar insufficiency visual epilepsy white piedra
7097	toll like receptor 2	TLR2	Behcet's disease Kuhnt-Junius degeneration acne acute necrotizing pancreatitis allergic rhinitis alveolar echinococcosis anogenital venereal wart anterior uveitis asthma atopic dermatitis atrial fibrillation bacterial pneumonia breast cancer carotid stenosis cholesteatoma of middle ear cholesteatoma colorectal cancer cutaneous leishmaniasis cystic echinococcosis dermatomyositis diffuse scleroderma dry eye syndrome end stage renal disease eye disease gastroesophageal reflux disease hepatocellular carcinoma ileitis keratitis keratoconjunctivitis kidney failure leprosy lung disease mastoiditis meningococcal meningitis molluscum contagiosum otitis media pancreatitis perinatal necrotizing enterocolitis prostate cancer psoriasis pulmonary sarcoidosis pulmonary tuberculosis renal fibrosis rhinitis seborrheic dermatitis severe acute respiratory syndrome sinusitis skin papilloma suppurative otitis media tuberculosis type 1 diabetes mellitus urinary bladder cancer urinary tract infection vitiligo
9514	galactose-3-O-sulfotransferase 1	GAL3ST1 CST cerebroside (3' phosphoadenylylsulfate:galactosylceramide 3') sulfotransferase	Behcet's disease Marfan syndrome Papillon-Lefevre disease acute myocardial infarction adenocarcinoma adenoma amyotrophic lateral sclerosis anhidrosis anterior horn cell disease arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy atherosclerosis brain stem infarction breast cancer breast carcinoma cancer cardiovascular system disease central nervous system cancer cerebral artery occlusion cerebral infarction cerebrovascular disease chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma cone-rod dystrophy 2 cone-rod dystrophy congestive heart failure coronary artery disease coronary thrombosis cribriform carcinoma diabetes mellitus diabetic ketoacidosis diabetic macular edema embryoma episodic kinesigenic dyskinesia 1 essential hypertension gliosarcoma granular cell carcinoma heart disease hepatitis B hepatocellular carcinoma high grade glioma hyperglycemia hypertension hypohidrosis immune system disease inflammatory bowel disease 1 inflammatory bowel disease influenza invasive ductal carcinoma lateral sclerosis liver cancer mixed glioma motor neuron disease myocardial infarction myotonic dystrophy type 2 nonpapillary renal cell carcinoma obesity obsolete type 1 diabetes mellitus 9 osteoarthritis papillary renal cell carcinoma progressive bulbar palsy progressive muscular atrophy renal carcinoma renal cell carcinoma sarcomatoid renal cell carcinoma silent myocardial infarction situs inversus stomach cancer stomach carcinoma substance abuse substance-related disorder tuberous sclerosis 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
47	ATP citrate lyase	ACLY ACL ATP citrate synthase ATPCL CLATP	Behcet's disease Zollinger-Ellison syndrome abdominal aortic aneurysm acute myeloid leukemia adult oligodendroglioma arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy atherosclerosis bone osteosarcoma breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer cardiac arrest cardiovascular system disease childhood oligodendroglioma childhood osteosarcoma chromophobe renal cell carcinoma chronic kidney disease chronic obstructive pulmonary disease clear cell renal cell carcinoma collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma congestive heart failure coronary artery disease diabetes mellitus disease of metabolism embryoma enthesopathy exostosis familial hyperlipidemia heart disease hepatocellular carcinoma high grade glioma hyperinsulinism inclusion body myositis kwashiorkor large intestine cancer liver cancer lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung disease lung non-small cell carcinoma marasmus mast-cell leukemia mastocytosis mixed oligodendroglioma-astrocytoma neuronal ceroid lipofuscinosis 10 neuronal ceroid lipofuscinosis 11 neuronal ceroid lipofuscinosis 13 neuronal ceroid lipofuscinosis 1 neuronal ceroid lipofuscinosis 2 neuronal ceroid lipofuscinosis 3 neuronal ceroid lipofuscinosis 4 neuronal ceroid lipofuscinosis 5 neuronal ceroid lipofuscinosis 6A neuronal ceroid lipofuscinosis 6B neuronal ceroid lipofuscinosis 7 neuronal ceroid lipofuscinosis 8 northern epilepsy variant neuronal ceroid lipofuscinosis 8 neuronal ceroid lipofuscinosis 9 neuronal ceroid lipofuscinosis nonpapillary renal cell carcinoma nutrition disease obesity oligodendroglioma osteoarthritis osteosarcoma ovarian cancer ovarian carcinoma papillary renal cell carcinoma periarthritis polycystic kidney disease 3 prostate cancer prostate carcinoma protein-energy malnutrition renal carcinoma renal cell carcinoma renal osteodystrophy sarcomatoid renal cell carcinoma septic arthritis squamous cell carcinoma steatotic liver disease stomach cancer stomach carcinoma synovitis tendinitis tenosynovitis tongue squamous cell carcinoma trigeminal neuralgia type 2 diabetes mellitus
762	carbonic anhydrase 4	CA4 CAIV Car4	Behcet's disease Zollinger-Ellison syndrome achromatopsia acquired color blindness blindness blue color blindness brain cancer cancer cataract chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm color blindness colorectal cancer colorectal carcinoma cone-rod dystrophy congenital nystagmus congenital stationary night blindness 1A congenital stationary night blindness corneal disease diabetes mellitus dissociated nystagmus eye disease fundus albipunctatus glaucoma hyperinsulinism hypogonadism intellectual disability keratoconus large intestine cancer learning disability lung cancer lung non-small cell carcinoma myocarditis night blindness nonpapillary renal cell carcinoma obesity obsolete asthenopia ophthalmoplegia optic atrophy papillary renal cell carcinoma pathologic nystagmus red color blindness red-green color blindness renal carcinoma renal cell carcinoma retinitis pigmentosa 17 retinitis pigmentosa sarcomatoid renal cell carcinoma sensorineural hearing loss spontaneous ocular nystagmus type 2 diabetes mellitus
8898	myotubularin related protein 2	MTMR2 KIAA1073 phosphatidylinositol-3-phosphatase phosphoinositide-3-phosphatase	Bell's palsy Charcot-Marie-Tooth disease X-linked dominant 1 Charcot-Marie-Tooth disease X-linked dominant 6 Charcot-Marie-Tooth disease X-linked recessive 2 Charcot-Marie-Tooth disease X-linked recessive 3 Charcot-Marie-Tooth disease X-linked recessive 4 Charcot-Marie-Tooth disease X-linked recessive 5 Charcot-Marie-Tooth disease axonal type 2C Charcot-Marie-Tooth disease axonal type 2F Charcot-Marie-Tooth disease axonal type 2H Charcot-Marie-Tooth disease axonal type 2K Charcot-Marie-Tooth disease axonal type 2L Charcot-Marie-Tooth disease axonal type 2N Charcot-Marie-Tooth disease axonal type 2O Charcot-Marie-Tooth disease axonal type 2P Charcot-Marie-Tooth disease axonal type 2Q Charcot-Marie-Tooth disease axonal type 2T Charcot-Marie-Tooth disease axonal type 2U Charcot-Marie-Tooth disease dominant intermediate A Charcot-Marie-Tooth disease dominant intermediate B Charcot-Marie-Tooth disease dominant intermediate C Charcot-Marie-Tooth disease dominant intermediate D Charcot-Marie-Tooth disease dominant intermediate E Charcot-Marie-Tooth disease dominant intermediate F Charcot-Marie-Tooth disease recessive intermediate B Charcot-Marie-Tooth disease recessive intermediate C Charcot-Marie-Tooth disease recessive intermediate D Charcot-Marie-Tooth disease type 1A Charcot-Marie-Tooth disease type 1B Charcot-Marie-Tooth disease type 1C Charcot-Marie-Tooth disease type 1D Charcot-Marie-Tooth disease type 1E Charcot-Marie-Tooth disease type 1F Charcot-Marie-Tooth disease type 2 Charcot-Marie-Tooth disease type 2A1 Charcot-Marie-Tooth disease type 2A2A Charcot-Marie-Tooth disease type 2B1 Charcot-Marie-Tooth disease type 2B2 Charcot-Marie-Tooth disease type 2B Charcot-Marie-Tooth disease type 2D Charcot-Marie-Tooth disease type 2E Charcot-Marie-Tooth disease type 2I Charcot-Marie-Tooth disease type 2J Charcot-Marie-Tooth disease type 2R Charcot-Marie-Tooth disease type 2Y Charcot-Marie-Tooth disease type 3 Charcot-Marie-Tooth disease type 4 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 agenesis of the corpus callosum with peripheral neuropathy agnosia axonal neuropathy cancer centronuclear myopathy X-linked centronuclear myopathy clubfoot congenital structural myopathy demyelinating polyneuropathy developmental coordination disorder facial nerve disease facial paralysis familial periodic paralysis glaucoma hereditary neuropathy with liability to pressure palsies hereditary sensory and autonomic neuropathy type 2 motor peripheral neuropathy myopathy neurodegenerative disease neuropathy obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum peripheral nervous system disease polyneuropathy scoliosis sensory peripheral neuropathy stomach cancer stomach carcinoma
4534	myotubularin 1	MTM1	Bell's palsy 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 4 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 IgA glomerulonephritis Poland syndrome X-linked dilated cardiomyopathy abdominal obesity-metabolic syndrome 1 adult respiratory distress syndrome agenesis of the corpus callosum with peripheral neuropathy atrioventricular block autosomal dominant centronuclear myopathy autosomal recessive centronuclear myopathy breast cancer breast carcinoma cancer capillary hemangioma cavernous hemangioma centronuclear myopathy 1 centronuclear myopathy X-linked centronuclear myopathy chronic kidney disease colon cancer colon carcinoma colonic benign neoplasm colorectal cancer communicating hydrocephalus congenital merosin-deficient muscular dystrophy 1A congenital muscular dystrophy 1B congenital muscular dystrophy due to LMNA mutation congenital muscular dystrophy due to integrin alpha-7 deficiency congenital myopathy 1A congenital myopathy 4A congenital ptosis congenital structural myopathy cryptorchidism cystinuria dental caries dentin caries diabetes mellitus diabetic ketoacidosis diaphragmatic eventration diarrhea 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 embryoma endocarditis epilepsy facial nerve disease facial paralysis familial periodic paralysis galactosemia glucosephosphate dehydrogenase deficiency glycogen storage disease Ia glycogen storage disease hemangioma hereditary neuropathy with liability to pressure palsies hereditary sensory and autonomic neuropathy type 2 hydrocephalus infective endocarditis intrahepatic cholestasis large intestine cancer megaconial type congenital muscular dystrophy motor peripheral neuropathy muscular dystrophy-dystroglycanopathy type B1 muscular dystrophy-dystroglycanopathy type B5 muscular dystrophy-dystroglycanopathy type B6 myofibrillar myopathy 1 myopathy myotonic disease myotonic dystrophy type 1 myotonic dystrophy type 2 nemaline myopathy neurodegenerative disease neuromuscular disease neuropathy newborn respiratory distress syndrome obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum obstructive hydrocephalus oculocerebrorenal syndrome ophthalmoplegia peripheral nervous system disease placental insufficiency polyhydramnios polyneuropathy ptosis pyloric stenosis rabies rigid spine muscular dystrophy 1 scoliosis senile degeneration of brain subacute bacterial endocarditis tubular aggregate myopathy 1 type 2 diabetes mellitus visual epilepsy
35	acyl-CoA dehydrogenase short chain	ACADS ACAD3 SCAD	Bell's palsy Cockayne syndrome Cornelia de Lange syndrome Dubowitz 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 Reye syndrome Robinow syndrome Seckel syndrome Silver-Russell syndrome Stevens-Johnson syndrome X-linked Aarskog syndrome alcohol use disorder arteriosclerotic cardiovascular disease atherosclerosis autosomal dominant Robinow syndrome 1 autosomal dominant Robinow syndrome 2 autosomal dominant Robinow syndrome 3 autosomal recessive Robinow syndrome bipolar disorder cancer cardiomyopathy chondrodysplasia-pseudohermaphroditism syndrome chronic kidney disease congestive heart failure coronary artery disease embryoma endomyocardial fibrosis epilepsy erythema multiforme facial nerve disease facial paralysis familial periodic paralysis hepatocellular carcinoma hypertrophic cardiomyopathy liver cancer medium chain acyl-CoA dehydrogenase deficiency microcephalic osteodysplastic primordial dwarfism type I microcephalic osteodysplastic primordial dwarfism type II myopathy nutmeg liver pancreatic cancer pancreatic carcinoma psychotic disorder schizoaffective disorder schizophrenia schizophreniform disorder scoliosis short chain acyl-CoA dehydrogenase deficiency visual epilepsy
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
1798	dolichyl-phosphate N-acetylglucosaminephosphotransferase 1	DPAGT1 ALG7 CDG-Ij D11S366 DGPT GPT GlcNAc-1-P transferase 1 UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase 1	Bell's palsy Ebola hemorrhagic fever Lambert-Eaton myasthenic syndrome acute intermittent porphyria agnosia alternating exotropia breast cancer cancer cataract clubfoot colorectal cancer colorectal carcinoma congenital disorder of glycosylation Ij congenital disorder of glycosylation type I congenital disorder of glycosylation congenital myasthenic syndrome 13 congenital myasthenic syndrome congenital nystagmus congenital ptosis cutaneous leishmaniasis developmental and epileptic encephalopathy 36 developmental coordination disorder dissociated nystagmus epilepsy essential hypertension exotropia facial nerve disease facial paralysis familial periodic paralysis fetal akinesia deformation sequence syndrome 1 fetal akinesia deformation sequence syndrome glycoproteinosis hepatocellular carcinoma hypertension intellectual disability isolated elevated serum creatine phosphokinase levels large intestine cancer learning disability leishmaniasis liver cancer microcephaly monocular exotropia mucolipidosis II alpha/beta myopathy pathologic nystagmus pseudosarcomatous fibromatosis ptosis scoliosis spontaneous ocular nystagmus squamous cell carcinoma stomach cancer stomach carcinoma stuttering syndromic X-linked intellectual disability 94 tongue squamous cell carcinoma tuberculosis visceral leishmaniasis visual epilepsy
2673	glutamine--fructose-6-phosphate transaminase 1	GFPT1 GFA GFAT GFAT1	Bell's palsy Laron syndrome Machado-Joseph disease Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Zollinger-Ellison syndrome achondroplasia agnosia brain cancer breast cancer breast carcinoma cancer centronuclear myopathy clubfoot congenital myasthenic syndrome 12 congenital myasthenic syndrome 4C congenital myasthenic syndrome congenital ptosis congenital structural myopathy developmental coordination disorder diabetes mellitus diabetic ketoacidosis embryoma facial nerve disease facial paralysis familial hyperlipidemia familial periodic paralysis giant cell glioblastoma glioblastoma glomerulonephritis hepatitis B hepatocellular carcinoma high grade glioma hyperglycemia hyperinsulinism hypertropia isolated elevated serum creatine phosphokinase levels kidney disease liver cancer mechanical strabismus myopathy nasopharynx carcinoma nephritis nephrosis neuromuscular disease neuromuscular junction disease obesity ophthalmoplegia pancreatic cancer pancreatic carcinoma ptosis pyoureter scoliosis stomach cancer stomach carcinoma strabismus tubular aggregate myopathy 1 type 2 diabetes mellitus
79868	ALG13 UDP-N-acetylglucosaminyltransferase subunit	ALG13 CDG1S FLJ23018 MDS031 N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase TDRD13 YGL047W tudor domain containing 13	Bell's palsy Meckel's diverticulum West syndrome agnosia attention deficit hyperactivity disorder autistic disorder blindness cerebral degeneration choreatic disease clubfoot congenital disorder of glycosylation type I congenital disorder of glycosylation congenital nystagmus craniosynostosis developmental and epileptic encephalopathy 36 dissociated nystagmus epilepsy facial nerve disease facial paralysis focal segmental glomerulosclerosis hypophosphatemia intellectual disability learning disability lung cancer lung non-small cell carcinoma microcephaly non-syndromic X-linked intellectual disability obesity obsolete infantile epileptic encephalopathy optic atrophy pathologic nystagmus placental insufficiency pyloric stenosis spontaneous ocular nystagmus syndromic X-linked intellectual disability 94 syndromic X-linked intellectual disability type 10 visual epilepsy
64419	myotubularin related protein 14	MTMR14 FLJ22405 FLJ90311 egg-derived tyrosine phosphatase homolog (Drosophila) hEDTP hJumpy	Bell's palsy agnosia asphyxia neonatorum autosomal dominant centronuclear myopathy autosomal recessive centronuclear myopathy cancer capillary hemangioma cardiomyopathy cavernous hemangioma centronuclear myopathy 1 centronuclear myopathy X-linked centronuclear myopathy congenital merosin-deficient muscular dystrophy 1A congenital muscular dystrophy 1B congenital muscular dystrophy due to LMNA mutation congenital muscular dystrophy due to integrin alpha-7 deficiency congenital myopathy 1A congenital myopathy 4A congenital ptosis congenital structural myopathy cryptorchidism developmental coordination disorder endomyocardial fibrosis facial nerve disease facial paralysis familial periodic paralysis hemangioma hepatocellular carcinoma hypertrophic cardiomyopathy liver cancer liver carcinoma malignant hyperthermia megaconial type congenital muscular dystrophy muscular dystrophy-dystroglycanopathy type B1 muscular dystrophy-dystroglycanopathy type B5 muscular dystrophy-dystroglycanopathy type B6 myopathy nemaline myopathy obesity ophthalmoplegia ovarian carcinoma polyhydramnios ptosis rigid spine muscular dystrophy 1 tubular aggregate myopathy 1
85365	ALG2 alpha-1,3/1,6-mannosyltransferase	ALG2 CDG1I CDGIi FLJ14511 NET38 hALPG2	Bell's palsy agnosia blindness breast cancer breast carcinoma cancer cataract clubfoot coloboma congenital disorder of glycosylation Ii congenital disorder of glycosylation type I congenital disorder of glycosylation type II congenital disorder of glycosylation congenital myasthenic syndrome 14 congenital myasthenic syndrome congenital nystagmus congenital ptosis developmental coordination disorder dissociated nystagmus embryoma epilepsy facial nerve disease facial paralysis familial periodic paralysis giant cell glioblastoma glioblastoma high grade glioma intellectual disability isolated elevated serum creatine phosphokinase levels learning disability myopathy obsolete infantile epileptic encephalopathy pathologic nystagmus ptosis scoliosis spontaneous ocular nystagmus visual epilepsy
199857	ALG14 UDP-N-acetylglucosaminyltransferase subunit	ALG14 MGC19780	Bell's palsy agnosia clubfoot congenital myasthenic syndrome 15 congenital myasthenic syndrome congenital ptosis developmental coordination disorder facial nerve disease facial paralysis familial periodic paralysis idiopathic scoliosis intellectual disability isolated elevated serum creatine phosphokinase levels learning disability myopathy ptosis scoliosis syndromic X-linked intellectual disability 94
3964	galectin 8	LGALS8 PCTA-1	Bernard-Soulier syndrome Glanzmann's thrombasthenia alopecia areata arthritis arthropathy autoimmune disease autoimmune lymphoproliferative syndrome breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma chromophobe renal cell carcinoma chronic fatigue syndrome clear cell renal cell carcinoma collecting duct carcinoma colon cancer colonic benign neoplasm colorectal cancer embryoma encephalitis encephalomyelitis enthesopathy fibromyalgia giant cell glioblastoma glioblastoma gray platelet syndrome high grade glioma immune system disease large intestine cancer liver cirrhosis lung benign neoplasm lung cancer lung carcinoma lung squamous cell carcinoma lymphopenia multiple myeloma multiple sclerosis myasthenia gravis myelitis nodular prostate nonpapillary renal cell carcinoma osteoarthritis osteoporosis ovarian cancer ovarian carcinoma papillary renal cell carcinoma platelet-type bleeding disorder 17 platelet-type bleeding disorder 18 prostate cancer prostate carcinoma prostatic adenoma qualitative platelet defect renal carcinoma renal cell carcinoma rheumatoid arthritis sarcomatoid carcinoma sarcomatoid renal cell carcinoma squamous cell carcinoma systemic lupus erythematosus tongue squamous cell carcinoma viral infectious disease
1291	collagen type VI alpha 1 chain	COL6A1	Bethlem myopathy Ullrich congenital muscular dystrophy congenital muscular dystrophy muscular dystrophy
50814	NAD(P) dependent steroid dehydrogenase-like	NSDHL H105e3 SDR31E1 XAP104 short chain dehydrogenase/reductase family 31E, member 1	Bloch-Sulzberger syndrome CHILD syndrome CK syndrome Joubert syndrome Miller-Dieker lissencephaly syndrome Potter's syndrome Sjogren-Larsson syndrome X-linked chondrodysplasia punctata 1 X-linked chondrodysplasia punctata 2 acquired hyperkeratosis autosomal dominant chondrodysplasia punctata autosomal recessive congenital ichthyosis bilateral renal aplasia cancer chondrodysplasia punctata cleft lip complex cortical dysplasia with other brain malformations 1 complex cortical dysplasia with other brain malformations 7 cortical dysplasia-focal epilepsy syndrome cutaneous fibrous histiocytoma epidermal nevus epilepsy granuloma annulare head and neck squamous cell carcinoma heart septal defect hidradenoma hydranencephaly hydronephrosis hypertropia hypomelanosis of Ito intellectual disability learning disability lissencephaly mechanical strabismus microcephaly obsolete congenital ichthyosiform erythroderma omphalocele ophthalmoplegia pontocerebellar hypoplasia type 2D pontocerebellar hypoplasia type 7 pontocerebellar hypoplasia type 8 pontocerebellar hypoplasia type 9 rhizomelic chondrodysplasia punctata type 1 rhizomelic chondrodysplasia punctata type 2 rhizomelic chondrodysplasia punctata type 3 scoliosis septooptic dysplasia short-rib thoracic dysplasia 14 with polydactyly skin papilloma skin tag strabismus syndromic X-linked intellectual disability Najm type syringoma umbilical hernia ventricular septal defect verruciform xanthoma of skin visual epilepsy
6441	surfactant protein D	SFTPD COLEC7 SP-D	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
54995	3-oxoacyl-ACP synthase, mitochondrial	OXSM CEM1 FASN2D FLJ20604 KS beta-ketoacyl synthase	Brucella melitensis brucellosis breast cancer tuberculosis
781	calcium voltage-gated channel auxiliary subunit alpha2delta 1	CACNA2D1 alpha2delta-1 lncRNA-N3	Brugada syndrome 1 Brugada syndrome 2 Brugada syndrome 3 Brugada syndrome 4 Brugada syndrome 5 Brugada syndrome 6 Brugada syndrome 7 Brugada syndrome 8 Brugada syndrome 9 Brugada syndrome West syndrome Williams-Beuren syndrome acute myeloid leukemia amelogenesis imperfecta type 1G atrial fibrillation atrioventricular block azoospermia brain infarction cancer cardiac arrest colon cancer colonic benign neoplasm colorectal cancer depressive disorder developmental and epileptic encephalopathy 110 embryoma epilepsy essential hypertension glaucoma hepatocellular carcinoma hypertension idiopathic scoliosis intellectual disability large intestine cancer learning disability liver cancer major depressive disorder malignant hyperthermia melancholic depression neurotic disorder obsolete infantile epileptic encephalopathy obsolete melancholia primary open angle glaucoma short QT syndrome sick sinus syndrome stomach cancer stomach carcinoma supravalvular aortic stenosis uveal melanoma
23171	glycerol-3-phosphate dehydrogenase 1 like	GPD1L KIAA0089	Brugada syndrome 1 Brugada syndrome 2 Brugada syndrome 3 Brugada syndrome 4 Brugada syndrome 5 Brugada syndrome 6 Brugada syndrome 7 Brugada syndrome 8 Brugada syndrome 9 Brugada syndrome arteriosclerotic cardiovascular disease arthritis arthropathy atherosclerosis atrial fibrillation congestive heart failure coronary artery disease head and neck squamous cell carcinoma nutmeg liver osteoarthritis sick sinus syndrome steatotic liver disease sudden infant death syndrome
2822	glycosylphosphatidylinositol specific phospholipase D1	GPLD1	Budd-Chiari syndrome Norum disease Richter's syndrome Tangier disease abetalipoproteinemia acute myocardial infarction arteriosclerotic cardiovascular disease atherosclerosis brain infarction breast cancer breast carcinoma cancer carcinoma choreaacanthocytosis chronic lymphocytic leukemia colon cancer colon carcinoma colonic benign neoplasm colorectal cancer coronary artery disease coronary thrombosis embryoma hypolipoproteinemia large intestine cancer melanoma myocardial infarction nutmeg liver osteoporosis papillary carcinoma prostate cancer prostate carcinoma rheumatoid arthritis sarcomatoid carcinoma silent myocardial infarction skin melanoma succinic semialdehyde dehydrogenase deficiency thyroid adenoma thyroid cancer thyroid gland carcinoma
93183	phosphatidylinositol glycan anchor biosynthesis class M	PIGM DPM:GlcN-(acyl-)PI mannosyltransferase GPI mannosyltransferase 1 GPI-MT-I PIG-M dol-P-Man dependent GPI mannosyltransferase	Budd-Chiari syndrome epilepsy focal epilepsy paroxysmal nocturnal hemoglobinuria partial motor epilepsy portal hypertension portal vein thrombosis thrombophilia visual epilepsy

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