GlyCosmos Portal

Homo sapiens (human)

Summary

Taxonomy ID: 9606
PubChem Taxonomy: 9606

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

Displaying entries **1501 - 1525** of **1582** in total

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Gene ID	Gene Name ▼	Gene Symbol	Disease Ontology
64581	C-type lectin domain containing 7A	CLEC7A CD369 DECTIN-1 SCARE2 hDectin-1	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 Behcet's disease Bloch-Sulzberger syndrome Kawasaki disease Meier-Gorlin syndrome 1 Meier-Gorlin syndrome Pick's disease Reye syndrome acquired hyperkeratosis acute myeloid leukemia adult-onset Still's disease allergic asthma amyloidosis angular cheilitis arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy aspergillosis asthma atherosclerosis atopic dermatitis autism spectrum disorder autistic disorder autoimmune disease autoimmune lymphoproliferative syndrome autoimmune polyendocrine syndrome type 1 autoimmune polyendocrine syndrome bacterial infectious disease bacterial sepsis black piedra blastomycosis cancer candidiasis cerebral degeneration cheilitis cholesteatoma chromoblastomycosis chronic mucocutaneous candidiasis chronic obstructive pulmonary disease chronic ulcer of skin coccidioidomycosis colitis congenital intrinsic factor deficiency coronary artery disease cryptococcosis cutaneous leishmaniasis cystic fibrosis dermatitis dermatomycosis dermatophytosis diverticulitis embryoma epilepsy exanthem fungal infectious disease gastroenteritis granuloma annulare hepatitis B hepatitis hepatocellular carcinoma histoplasmosis hypomelanosis of Ito ileitis ileocolitis immune system disease inflammatory bowel disease 1 inflammatory bowel disease influenza intrinsic asthma keratitis keratoconjunctivitis lip disease liver cancer liver carcinoma liver cirrhosis lupus nephritis male infertility mycotic corneal ulcer nutmeg liver obesity oral candidiasis osteoarthritis pancreatic cancer pancreatic carcinoma paracoccidioidomycosis parapsoriasis parasitic helminthiasis infectious disease patent ductus arteriosus pneumocystosis pneumonia polyp of middle ear psoriasis pustulosis of palm and sole rheumatoid arthritis shigellosis sporotrichosis superficial mycosis systemic lupus erythematosus tinea favosa tuberculosis ulcerative colitis urinary tract obstruction vasculitis visual epilepsy vulvovaginal candidiasis white piedra
93978	C-type lectin domain containing 6A	CLEC6A dectin-2 hDECTIN-2	Kawasaki disease acute myocardial infarction arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis cancer candidiasis cholesteatoma coronary artery disease coronary thrombosis cryptococcosis cystic fibrosis dermatomycosis dermatophytosis embryoma fungal infectious disease myocardial infarction pneumocystosis pneumonia polyp of middle ear rheumatoid arthritis silent myocardial infarction superficial mycosis tinea favosa tuberculosis vasculitis
23601	C-type lectin domain containing 5A	CLEC5A MDL-1	Japanese encephalitis Mycoplasma pneumoniae pneumonia arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy atherosclerosis bone osteosarcoma brain glioblastoma multiforme central nervous system cancer cholesteatoma dengue disease dengue hemorrhagic fever giant cell glioblastoma glioblastoma gliosarcoma high grade glioma mixed glioma osteoarthritis osteosarcoma polyp of middle ear viral infectious disease yellow fever
388512	C-type lectin domain containing 17A	CLEC17A FLJ45910 prolectin	Richter's syndrome chronic lymphocytic leukemia
23274	C-type lectin domain containing 16A	CLEC16A Gop-1	Addison's disease 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 Behcet's disease Crohn's colitis Crohn's disease Hodgkin's granuloma Hodgkin's lymphoma, lymphocytic depletion Hodgkin's lymphoma, lymphocytic-histiocytic predominance Hodgkin's lymphoma, mixed cellularity Hodgkin's lymphoma, nodular sclerosis Hodgkin's lymphoma Pick's disease Reye syndrome Vogt-Koyanagi-Harada disease abdominal obesity-metabolic syndrome 1 acute myocardial infarction adrenal cortical hypofunction allergic asthma allergic disease allergic rhinitis alopecia areata ankylosing spondylitis ascending cholangitis asthma atopic dermatitis autoimmune disease autoimmune lymphoproliferative syndrome celiac disease cerebral degeneration cerebral infarction cerebrovascular disease cholangitis chronic kidney disease common variable immunodeficiency coronary thrombosis dermatitis diabetes mellitus diabetic ketoacidosis eosinophilic esophagitis essential hypertension glucose intolerance hypertension immune system disease immunoglobulin alpha deficiency inflammatory bowel disease 1 inflammatory bowel disease intrinsic asthma juvenile rheumatoid arthritis multiple sclerosis myocardial infarction neurodegenerative disease obsolete type 1 diabetes mellitus 9 parapsoriasis prediabetes syndrome primary biliary cholangitis primary immunodeficiency disease primary sclerosing cholangitis psoriasis pustulosis of palm and sole rheumatoid arthritis sclerosing cholangitis selective IgA deficiency disease silent myocardial infarction subacute bacterial endocarditis suppurative cholangitis systemic lupus erythematosus 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 vasomotor rhinitis
161198	C-type lectin domain containing 14A	CLEC14A	IgA glomerulonephritis breast cancer cancer embryoma lung adenocarcinoma lung cancer melanoma ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma skin melanoma thymic carcinoma thymoma
10462	C-type lectin domain containing 10A	CLEC10A CD301 HML HML2 macrophage lectin 2 (calcium dependent)	B-cell lymphoma Crohn's colitis Crohn's disease Ebola hemorrhagic fever acquired immunodeficiency syndrome acrodermatitis adenosquamous carcinoma adult lymphoma allergic asthma amyotrophic lateral sclerosis type 1 amyotrophic lateral sclerosis type 2 amyotrophic lateral sclerosis type 4 amyotrophic lateral sclerosis anterior horn cell disease asthma atopic dermatitis autosomal recessive distal hereditary motor neuronopathy 1 bipolar disorder breast cancer breast carcinoma cancer celiac disease central nervous system lymphoma centronuclear myopathy cervical adenocarcinoma cervical cancer cervix carcinoma childhood lymphoma cholesteatoma cholinergic urticaria congenital structural myopathy coronary artery disease dermatitis embryoma embryonal cancer germ cell and embryonal cancer germ cell cancer germinoma hepatocellular carcinoma human immunodeficiency virus infectious disease hypereosinophilic syndrome inflammatory bowel disease 1 inflammatory bowel disease influenza intrinsic asthma lateral sclerosis liver cancer lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lymphoma melanoma motor neuron disease neurodegenerative disease obsolete malignant histiocytosis obsolete ymphosarcoma ovarian cancer ovarian carcinoma peripheral T-cell lymphoma polyp of middle ear progressive muscular atrophy prostate cancer prostate carcinoma rheumatoid arthritis schizophrenia skin melanoma squamous cell carcinoma teratocarcinoma tongue squamous cell carcinoma transient myeloproliferative syndrome tubular aggregate myopathy 1 ulcerative colitis viral infectious disease
221927	BRCA1 associated ATM activator 1	BRAT1
572	BCL2 associated agonist of cell death	BAD	Alzheimer's disease Parkinsonism acute kidney failure brain ischemia breast cancer colon cancer diabetic neuropathy endometrial cancer gastric ulcer glaucoma high grade glioma hypertension hypothyroidism impotence intermittent claudication lung non-small cell carcinoma macular degeneration middle cerebral artery infarction obesity osteoarthritis pancreatic cancer prostate carcinoma prostatic hypertrophy pulmonary fibrosis renal cell carcinoma traumatic brain injury type 2 diabetes mellitus visual epilepsy
673	B-Raf proto-oncogene, serine/threonine kinase	BRAF	Langerhans-cell histiocytosis Noonan syndrome 7 Noonan syndrome with multiple lentigines 3 bile duct adenoma cancer cardiofaciocutaneous syndrome 1 cardiofaciocutaneous syndrome cardiomyopathy cholangiocarcinoma colon carcinoma colorectal adenocarcinoma colorectal cancer dysembryoplastic neuroepithelial tumor endometrial carcinoma familial melanoma germinoma high grade glioma intrahepatic cholangiocarcinoma lung cancer malignant astrocytoma melanoma pancreatic acinar cell adenocarcinoma pancreatic cancer pleomorphic xanthoastrocytoma prostate adenocarcinoma thyroid gland papillary carcinoma
477	ATPase Na+/K+ transporting subunit alpha 2	ATP1A2	alcohol use disorder alternating hemiplegia of childhood benign neonatal seizures developmental and epileptic encephalopathy 98 epilepsy familial hemiplegic migraine 2 familial hemiplegic migraine hyperhomocysteinemia hypertension migraine with aura nervous system disease
10159	ATPase H+ transporting accessory protein 2	ATP6AP2 APT6M8-9 ATP6M8-9 M8-9 PRR RENR V-ATPase M8.9 subunit prorenin receptor renin receptor	Bartter disease Blau syndrome CAKUT Conn's syndrome Graves' disease Horner's syndrome Kawasaki disease Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Waterhouse-Friderichsen syndrome X-linked parkinsonism-spasticity syndrome abdominal obesity-metabolic syndrome 1 acute myocardial infarction acute promyelocytic leukemia adamantinous craniopharyngioma adenocarcinoma adenoma age related macular degeneration agnosia alcoholic cardiomyopathy angioma serpiginosum aortic valve disease 2 aortic valve insufficiency aortic valve stenosis aplastic anemia apraxia arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis atrial fibrillation autistic disorder autoimmune disease autoimmune lymphoproliferative syndrome bacterial infectious disease breast cancer breast carcinoma bronchiolitis bronchus cancer bronchus carcinoma cancer capillary hemangioma carcinoma cardiovascular system disease cavernous hemangioma central nervous system cancer cerebral degeneration cerebrovascular disease chronic kidney disease clubfoot colorectal cancer colorectal carcinoma congenital disorder of glycosylation type II congenital disorder of glycosylation congestive heart failure coronary artery disease coronary thrombosis craniopharyngioma cribriform carcinoma degeneration of macula and posterior pole depressive disorder developmental coordination disorder diabetes insipidus diabetes mellitus diabetic angiopathy diabetic cataract diabetic ketoacidosis diabetic retinopathy dilated cardiomyopathy 1A dilated cardiomyopathy dysthymic disorder echolalia eclampsia embryoma endometrial cancer endometrial carcinoma epilepsy essential hypertension extrinsic allergic alveolitis farmer's lung gallbladder disease gestational diabetes giant cell glioblastoma glioblastoma gliosarcoma glomerulonephritis glycogen storage disease II granular cell carcinoma granular cell tumor heart disease heart septal defect hepatocellular carcinoma high grade glioma hypertension hyperthyroidism idiopathic interstitial pneumonia idiopathic pulmonary fibrosis immune system disease intellectual disability invasive ductal carcinoma kidney disease kidney failure large intestine cancer learning disability liver cancer liver disease lung benign neoplasm lung cancer lung carcinoma macular degeneration major depressive disorder melancholic depression mixed glioma morbid obesity multiple sclerosis myocardial infarction nephritis nephrogenic diabetes insipidus nephrosis neurodegenerative disease neurohypophyseal diabetes insipidus neurotic disorder obesity obsolete melancholia obstructive sleep apnea pancreatic ductal adenocarcinoma papillary craniopharyngioma pneumocystosis postinflammatory pulmonary fibrosis pre-eclampsia primary hyperaldosteronism proliferative diabetic retinopathy prostate cancer prostate carcinoma pulmonary fibrosis pyoureter renal osteodystrophy scoliosis secondary Parkinson disease shigellosis silent myocardial infarction syndromic X-linked intellectual disability Hedera type syndromic X-linked intellectual disability thyrotoxicosis tubular adenocarcinoma type 2 diabetes mellitus uremia ureteral obstruction uterine corpus cancer viral infectious disease visual epilepsy
537	ATPase H+ transporting accessory protein 1	ATP6AP1 16A Ac45 CF2 ORF VATPS1 X-associated protein 3 XAP-3 XAP3 vacuolar ATPase subunit S1	Hailey-Hailey disease Rothmund-Thomson syndrome autosomal dominant cutis laxa 1 autosomal dominant cutis laxa 2 autosomal dominant cutis laxa 3 autosomal dominant cutis laxa autosomal recessive cutis laxa type IA autosomal recessive cutis laxa type IB autosomal recessive cutis laxa type II classic type autosomal recessive cutis laxa type IIA autosomal recessive cutis laxa type IIB autosomal recessive cutis laxa type IIC autosomal recessive cutis laxa type IID autosomal recessive cutis laxa type IIIA autosomal recessive cutis laxa type IIIB cancer congenital disorder of glycosylation cutis laxa exocrine pancreatic insufficiency follicular lymphoma gallbladder disease hyperopia immunodeficiency 47 leukopenia liver disease mal de Meleda restrictive dermopathy steatotic liver disease tuberculosis
523	ATPase H+ transporting V1 subunit A	ATP6V1A V-ATPase subunit A V-type proton ATPase (V-ATPase) catalytic subunit A VA68 Vma1	American histoplasmosis Dandy-Walker syndrome Joubert syndrome Laron syndrome Miller-Dieker lissencephaly syndrome Unverricht-Lundborg syndrome achondroplasia agnosia angioma serpiginosum anodontia aspergillosis 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 attention deficit hyperactivity disorder autistic disorder autosomal recessive cutis laxa type IA autosomal recessive cutis laxa type II classic type autosomal recessive cutis laxa type IIA autosomal recessive cutis laxa type IIC autosomal recessive cutis laxa type IID black piedra blepharophimosis blepharospasm brain disease capillary hemangioma cardiomyopathy cataract cavernous hemangioma cerebral degeneration clubfoot coccidioidomycosis coloboma colorectal cancer colorectal carcinoma complex cortical dysplasia with other brain malformations 1 complex cortical dysplasia with other brain malformations 7 congenital generalized lipodystrophy type 1 congenital generalized lipodystrophy type 2 congenital generalized lipodystrophy type 3 congenital generalized lipodystrophy type 4 congenital nystagmus congenital ptosis congestive heart failure cortical dysplasia-focal epilepsy syndrome cryptorchidism cutis laxa dementia dental caries dentin caries developmental and epileptic encephalopathy 93 developmental coordination disorder dissociated nystagmus dystonia early myoclonic encephalopathy endomyocardial fibrosis entropion epilepsy esophagitis familial hypertrophic cardiomyopathy focal hand dystonia gastroesophageal reflux disease histoplasmosis hydranencephaly hyperopia hypertrophic cardiomyopathy hypertropia inguinal hernia intellectual disability large intestine cancer learning disability lingual-facial-buccal dyskinesia lipoatrophic diabetes mellitus lipodystrophy lissencephaly mechanical strabismus microcephaly obsolete infantile epileptic encephalopathy ophthalmoplegia optic atrophy patent foramen ovale pathologic nystagmus peptic esophagitis placental insufficiency pontocerebellar hypoplasia type 2D pontocerebellar hypoplasia type 7 pontocerebellar hypoplasia type 8 pontocerebellar hypoplasia type 9 ptosis retinal degeneration schizophrenia septooptic dysplasia short-rib thoracic dysplasia 14 with polydactyly spontaneous ocular nystagmus sporotrichosis status epilepticus stomach cancer stomach carcinoma strabismus superficial mycosis syndromic X-linked intellectual disability Najm type tooth agenesis visual epilepsy white piedra
23545	ATPase H+ transporting V0 subunit a2	ATP6V0A2 ATP6N1D ATP6a2 J6B7 RTF Stv1 TJ6 TJ6M TJ6s V-ATPase subunit a2 V-type proton ATPase 116 kDa subunit a2 Vph1 a2 a2V infantile malignant osteopetrosis regeneration and tolerance factor	Crohn's colitis Crohn's disease Dandy-Walker syndrome Ehlers-Danlos syndrome Hailey-Hailey disease Joubert syndrome Laron syndrome Miller-Dieker lissencephaly syndrome Rothmund-Thomson syndrome achondroplasia agnosia alopecia aortic valve disease 1 aortic valve disease 2 aortic valve stenosis arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis autosomal dominant cutis laxa 1 autosomal dominant cutis laxa 2 autosomal dominant cutis laxa 3 autosomal dominant cutis laxa autosomal recessive cutis laxa type IA autosomal recessive cutis laxa type IB autosomal recessive cutis laxa type II classic type autosomal recessive cutis laxa type IIA autosomal recessive cutis laxa type IIB autosomal recessive cutis laxa type IIC autosomal recessive cutis laxa type IID autosomal recessive cutis laxa type IIIA autosomal recessive cutis laxa type IIIB autosomal recessive osteopetrosis 1 autosomal recessive osteopetrosis 7 bacterial sepsis bicuspid aortic valve disease bone disease breast cancer breast carcinoma cancer cartilage disease clubfoot complex cortical dysplasia with other brain malformations 1 complex cortical dysplasia with other brain malformations 7 congenital disorder of glycosylation Il congenital disorder of glycosylation type I congenital disorder of glycosylation congenital generalized lipodystrophy type 1 congenital generalized lipodystrophy type 2 congenital generalized lipodystrophy type 3 congenital generalized lipodystrophy type 4 connective tissue disease coronary artery disease cortical dysplasia-focal epilepsy syndrome cryptococcosis cryptorchidism cutis laxa dementia dental caries dentin caries developmental coordination disorder diabetic cataract diabetic retinopathy encephalitis encephalomyelitis epilepsy essential hypertension generalized atherosclerosis geroderma osteodysplasticum giant cell glioblastoma glioblastoma gliosarcoma high grade glioma hydranencephaly hypertension hypertropia inflammatory bowel disease 1 inflammatory bowel disease inguinal hernia intellectual disability intracranial aneurysm learning disability lipoatrophic diabetes mellitus lipodystrophy lissencephaly lung disease mal de Meleda male infertility mechanical strabismus microcephaly mixed glioma myelitis myopia omphalocele ophthalmoplegia osteogenesis imperfecta osteopetrosis osteosclerosis placental insufficiency platelet-type bleeding disorder 11 platelet-type bleeding disorder 3 platelet-type bleeding disorder 8 platelet-type bleeding disorder 9 pontocerebellar hypoplasia type 2D pontocerebellar hypoplasia type 7 pontocerebellar hypoplasia type 8 pontocerebellar hypoplasia type 9 pulmonary emphysema renal tubular acidosis restrictive dermopathy scoliosis septooptic dysplasia short-rib thoracic dysplasia 14 with polydactyly status epilepticus strabismus syndromic X-linked intellectual disability Najm type ulcerative colitis umbilical hernia visual epilepsy von Willebrand's disease wrinkly skin syndrome
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
79796	ALG9 alpha-1,2-mannosyltransferase	ALG9 dol-P-Man dependent alpha-1,2-mannosyltransferase dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase	Gilles de la Tourette syndrome Marfan syndrome Meckel syndrome 1 Meckel syndrome 2 Meckel syndrome 3 Meckel syndrome 4 Meckel syndrome 5 Meckel syndrome 6 Meckel syndrome 8 Meckel syndrome autosomal dominant polycystic kidney disease cardiovascular system disease congenital disorder of glycosylation Il congenital disorder of glycosylation type I congenital disorder of glycosylation congenital heart disease congestive heart failure craniosynostosis cystic kidney disease cystinuria enophthalmos epilepsy esotropia galactokinase deficiency galactosemia glucosephosphate dehydrogenase deficiency glycogen storage disease Ia glycogen storage disease heart disease heart septal defect hemopericardium intellectual disability learning disability microcephaly monocular esotropia mucopolysaccharidosis IV multiple epiphyseal dysplasia neuroendocrine carcinoma neuroendocrine tumor obsolete exophthalmos orbital disease osteochondrodysplasia pericardial effusion polycystic kidney disease 1 polycystic liver disease psychotic disorder schizoaffective disorder schizophrenia schizophreniform disorder situs inversus tuberous sclerosis visual epilepsy
79053	ALG8 alpha-1,3-glucosyltransferase	ALG8 MGC2840 dolichyl-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase	Meckel syndrome 1 Meckel syndrome 2 Meckel syndrome 3 Meckel syndrome 4 Meckel syndrome 5 Meckel syndrome 6 Meckel syndrome 8 anemia asphyxia neonatorum autosomal dominant polycystic kidney disease cataract cholestasis clubfoot congenital disorder of glycosylation Ih congenital disorder of glycosylation type I congenital disorder of glycosylation congenital hypothyroidism cryptorchidism cystic kidney disease depressive disorder developmental and epileptic encephalopathy 36 diarrhea dysthymic disorder elephantiasis gastrointestinal system disease heart septal defect hypothyroidism intestinal disease lymphedema macrocytic anemia major depressive disorder melancholic depression myxedema neurotic disorder non-congenital cyst of kidney obsolete melancholia oligohydramnios patent ductus arteriosus placental insufficiency polycystic liver disease polyhydramnios protein-losing enteropathy thrombocytopenia
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
29880	ALG5 dolichyl-phosphate beta-glucosyltransferase	ALG5 bA421P11.2	congenital disorder of glycosylation type I polycystic kidney disease
10195	ALG3 alpha-1,3- mannosyltransferase	ALG3 CDGS4 D16Ertd36e NOT56L Not56 carbohydrate deficient glycoprotein syndrome type IV dol-P-Man dependent alpha-1,3- mannosyltransferase dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase	Alzheimer's disease Creutzfeldt-Jakob disease acute myeloid leukemia breast cancer breast carcinoma cancer celiac disease cerebral degeneration clubfoot coloboma congenital disorder of glycosylation Id congenital disorder of glycosylation If congenital disorder of glycosylation type I congenital disorder of glycosylation developmental and epileptic encephalopathy 36 diarrhea embryoma epilepsy esophagus squamous cell carcinoma head and neck squamous cell carcinoma hypertropia laryngeal squamous cell carcinoma mechanical strabismus microcephaly nonsyndromic congenital nail disorder 9 obsolete infantile epileptic encephalopathy ophthalmoplegia optic atrophy strabismus visual epilepsy
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
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
79087	ALG12 alpha-1,6-mannosyltransferase	ALG12 CDG1G ECM39 dol-P-Man dependent alpha-1,6-mannosyltransferase dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase	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 clubfoot cone-rod dystrophy congenital disorder of glycosylation Ie congenital disorder of glycosylation Ig congenital disorder of glycosylation type I congenital disorder of glycosylation congestive heart failure cryptorchidism developmental and epileptic encephalopathy 36 fundus albipunctatus hypercalcemia hypospadias nephrocalcinosis patent ductus arteriosus patent foramen ovale phosphorus metabolism disease placental insufficiency polyhydramnios retinal detachment retinitis pigmentosa sensorineural hearing loss

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