GlyCosmos Portal

Homo sapiens (human)

Summary

Taxonomy ID: 9606
PubChem Taxonomy: 9606

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

Displaying entries **1401 - 1425** of **1582** in total

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Gene ID	Gene Name	Gene Symbol ▼	Disease Ontology
126792	beta-1,3-galactosyltransferase 6	B3GALT6 beta-1,3-galactosyltransferase-6 beta3GalT6	Ehlers-Danlos syndrome spondylodysplastic type 2 Ehlers-Danlos syndrome Hailey-Hailey disease Hirschsprung's disease Laron syndrome Rothmund-Thomson syndrome achondroplasia aortic valve disease 1 aortic valve disease 2 aortic valve stenosis 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 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 bicuspid aortic valve disease bone disease cartilage disease cherubism chondrodysplasia punctata chromophobe renal cell carcinoma clear cell renal cell carcinoma cleft palate clubfoot collagen disease collecting duct carcinoma connective tissue disease cutis laxa enophthalmos exostosis heart septal defect hepatocellular carcinoma intellectual disability isolated cleft palate isolated ectopia lentis learning disability liver cancer mal de Meleda mitral valve insufficiency mitral valve prolapse myopia nonpapillary renal cell carcinoma obsolete exophthalmos orbital disease osteogenesis imperfecta osteoporosis papillary renal cell carcinoma paraplegia patent foramen ovale periarthritis renal carcinoma renal cell carcinoma restrictive dermopathy sarcomatoid renal cell carcinoma scoliosis spinal cord disease spondyloepimetaphyseal dysplasia with joint laxity type 1 tendinitis ventricular septal defect
10317	beta-1,3-galactosyltransferase 5	B3GALT5 B3GalT-V B3T5 GLCT5 GlcNAc-beta-1,3-galactosyltransferase 5 beta3Gal-T5 homolog of C. elegans Bt toxin resistance gene bre-5	acute myeloid leukemia adenocarcinoma adenoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer cribriform carcinoma granular cell carcinoma hepatocellular carcinoma large intestine cancer liver cancer pancreatic cancer pancreatic carcinoma tubular adenocarcinoma
8705	beta-1,3-galactosyltransferase 4	B3GALT4 GalT4 beta3Gal-T4 ganglioside galactosyltransferase	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 Ehlers-Danlos syndrome Parkinson's disease Pick's disease Reye syndrome breast cancer cerebral degeneration colorectal cancer colorectal carcinoma large intestine cancer late onset Parkinson's disease osteogenesis imperfecta
8707	beta-1,3-galactosyltransferase 2	B3GALT2 beta3Gal-T2
8708	beta-1,3-galactosyltransferase 1	B3GALT1 beta3Gal-T1	Peters plus syndrome adenocarcinoma adenoma cribriform carcinoma granular cell carcinoma tubular adenocarcinoma
148789	beta-1,3-N-acetylgalactosaminyltransferase 2	B3GALNT2 MGC39558	Dandy-Walker syndrome Duchenne muscular dystrophy Fukuyama congenital muscular dystrophy Joubert syndrome Miller-Dieker lissencephaly syndrome Peters anomaly Walker-Warburg syndrome 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 breast cancer breast carcinoma cancer cataract cerebral degeneration choreatic disease coloboma communicating hydrocephalus complex cortical dysplasia with other brain malformations 1 complex cortical dysplasia with other brain malformations 7 congenital muscular dystrophy-dystroglycanopathy type A11 congenital muscular dystrophy-dystroglycanopathy type A1 congenital muscular dystrophy cornea plana cortical dysplasia-focal epilepsy syndrome cryptorchidism depressive disorder developmental coordination disorder distal myopathy dysthymic disorder dystonia embryoma epilepsy facioscapulohumeral muscular dystrophy familial periodic paralysis focal epilepsy fundus dystrophy glaucoma hepatocellular carcinoma holoprosencephaly 1 holoprosencephaly hydranencephaly hydrocephalus hypertropia intellectual disability isolated elevated serum creatine phosphokinase levels learning disability limb-girdle muscular dystrophy lingual-facial-buccal dyskinesia lissencephaly liver cancer major depressive disorder mechanical strabismus melancholic depression meningocele microcephaly microphthalmia muscular dystrophy-dystroglycanopathy type B1 muscular dystrophy myofibrillar myopathy 1 myofibrillar myopathy 3 myopathy myopia neurotic disorder obsolete autosomal dominant limb-girdle muscular dystrophy type 1A obsolete autosomal dominant limb-girdle muscular dystrophy type 1B obsolete autosomal dominant limb-girdle muscular dystrophy type 1C obsolete autosomal recessive limb-girdle muscular dystrophy type 2R obsolete infantile epileptic encephalopathy obsolete melancholia obstructive hydrocephalus oculopharyngeal muscular dystrophy ophthalmoplegia optic atrophy partial motor epilepsy pontocerebellar hypoplasia type 2D pontocerebellar hypoplasia type 7 pontocerebellar hypoplasia type 8 pontocerebellar hypoplasia type 9 recurrent corneal erosion retinal detachment rippling muscle disease 2 senile degeneration of brain sensorineural hearing loss septooptic dysplasia short-rib thoracic dysplasia 14 with polydactyly speech disorder stereotypic movement disorder strabismus syndromic X-linked intellectual disability 94 syndromic X-linked intellectual disability Najm type syndromic X-linked intellectual disability type 10 visual epilepsy
8706	beta-1,3-N-acetylgalactosaminyltransferase 1 (Globoside blood group)	B3GALNT1 B3GALANT1 GLOB P antigen synthase beta3Gal-T3 galT3 globoside synthase	brain cancer cancer lung cancer lung non-small cell carcinoma pancreatic ductal adenocarcinoma
26033	attractin like 1	ATRNL1 ALP FLJ45344 KIAA0534	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 Becker muscular dystrophy Bloom syndrome Duchenne muscular dystrophy Huntington's disease-like 1 Huntington's disease-like 2 Huntington's disease Langerhans-cell histiocytosis Laron syndrome Marfan syndrome Pick's disease Reye syndrome Sjogren's syndrome Wilson disease achondroplasia acromegaly acute myeloid leukemia adult hypophosphatasia allergic asthma amyotrophic lateral sclerosis ankylosing spondylitis asthma 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 bone cancer bone disease bone osteosarcoma breast cancer breast carcinoma bronchus cancer bronchus carcinoma calcinosis calcium metabolism disease cancer cardiovascular system disease cartilage disease cerebral degeneration cerebral palsy childhood osteosarcoma cholestasis choriocarcinoma chromophobe renal cell carcinoma chromosome 17p13.1 deletion syndrome clear cell renal cell carcinoma cleft palate collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer connective tissue disease craniosynostosis diabetes mellitus distal arthrogryposis distal myopathy embryonal cancer endomyocardial fibrosis esophagitis extrahepatic cholestasis facioscapulohumeral muscular dystrophy 1 facioscapulohumeral muscular dystrophy familial hyperlipidemia familial hypocalciuric hypercalcemia 1 gallbladder disease gastroesophageal reflux disease germ cell and embryonal cancer germ cell cancer germinoma goiter heart disease hematopoietic system disease hemiplegia hemochromatosis hepatitis C hepatitis hepatocellular carcinoma hereditary elliptocytosis hypercalcemia hyperpituitarism hypogonadism hypophosphatasia infantile hypophosphatasia inflammatory liposarcoma iron metabolism disease isolated cleft palate keratoconjunctivitis sicca kidney failure large intestine cancer limb-girdle muscular dystrophy lipoma lissencephaly liver cancer liver carcinoma liver cirrhosis liver disease lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lymphoma muscular dystrophy myeloproliferative disorder with eosinophilia myotonic disease myotonic dystrophy type 1 myotonic dystrophy type 2 nephrocalcinosis nephrolithiasis neurodegenerative disease non-Hodgkin lymphoma nonpapillary renal cell carcinoma nontoxic goiter 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 constipation obsolete ymphosarcoma oculopharyngeal muscular dystrophy osteoporosis osteosarcoma papillary renal cell carcinoma peptic esophagitis phosphorus metabolism disease placenta cancer pleomorphic lipoma primary biliary cholangitis primary hyperparathyroidism progressive muscular atrophy prostate cancer prostate carcinoma renal carcinoma renal cell carcinoma reticulosarcoma rheumatoid arthritis sarcomatoid renal cell carcinoma sclerosing liposarcoma situs inversus spastic diplegia spastic monoplegia spastic quadriplegic cerebral palsy steatotic liver disease subcortical band heterotopia thyroid gland disease tuberous sclerosis type 2 diabetes mellitus uremia uric acid nephrolithiasis vitelliform macular dystrophy well-differentiated liposarcoma
8455	attractin	ATRN DPPT-L MGCA mahogany protein	3-methylglutaconic aciduria type 3 Barth syndrome allergic asthma anaplastic astrocytoma asthma cancer cardiomyopathy central nervous system cancer childhood cerebral astrocytoma endomyocardial fibrosis fibrillary astrocytoma gemistocytic astrocytoma gliosarcoma high grade glioma hypertrophic cardiomyopathy intrinsic asthma juvenile pilocytic astrocytoma leukodystrophy malignant astrocytoma mixed glioma obesity pilocytic astrocytoma protoplasmic astrocytoma restless legs syndrome skin benign neoplasm skin cancer squamous cell carcinoma subependymal giant cell astrocytoma tongue squamous cell carcinoma
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
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
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
468	activating transcription factor 4	ATF4	borna disease prostate carcinoma pulmonary venoocclusive disease
467	activating transcription factor 3	ATF3	prostate cancer pulmonary tuberculosis
433	asialoglycoprotein receptor 2	ASGR2 CLEC4H2
432	asialoglycoprotein receptor 1	ASGR1 CLEC4H1	acrodermatitis arteriosclerotic cardiovascular disease atherosclerosis cancer coronary artery disease dermatitis hepatocellular carcinoma liver cancer nutmeg liver thrombocytopenia
653308	N-acylsphingosine amidohydrolase 2B	ASAH2B ASAH2L bA449O16.3 bA98I6.3	breast cancer breast carcinoma
56624	N-acylsphingosine amidohydrolase 2	ASAH2 neutral ceramidase non-lysosomal ceramidase	Alzheimer's disease autoimmune lymphoproliferative syndrome type 2A autoimmune lymphoproliferative syndrome type 2B autoimmune lymphoproliferative syndrome type 3 autoimmune lymphoproliferative syndrome cardiomyopathy celiac disease colorectal cancer congenital diaphragmatic hernia cystic fibrosis dementia diabetes mellitus diabetic ketoacidosis gallbladder disease gamma heavy chain disease glaucoma heavy chain disease inflammatory bowel disease large intestine cancer liver disease lymphoproliferative syndrome 1 lymphoproliferative syndrome 2 neuroblastoma obesity systemic Epstein-Barr virus positive T-cell lymphoma of childhood type 2 diabetes mellitus
427	N-acylsphingosine amidohydrolase 1	ASAH1 AC ACDase FLJ21558 PHP32 acid ceramidase acylsphingosine deacylase	Albright's hereditary osteodystrophy Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease Beckwith-Wiedemann syndrome Bell's palsy CLOVES syndrome Erdheim-Chester disease Ewing sarcoma Fabry disease Farber lipogranulomatosis IGSF1 deficiency syndrome Krabbe disease Laron syndrome Lewy body dementia Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Perlman syndrome Pick's disease Reye syndrome Sotos syndrome Turner syndrome Unverricht-Lundborg syndrome Usher syndrome type 2 Usher syndrome type 3 Usher syndrome Wolman disease achondroplasia acute monocytic leukemia acute myeloid leukemia adult medulloblastoma agnosia amyotrophic lateral sclerosis type 1 amyotrophic lateral sclerosis type 2 amyotrophic lateral sclerosis type 4 anterior horn cell disease arthritis arthropathy atrial fibrillation autosomal recessive distal hereditary motor neuronopathy 1 benign ependymoma benign epilepsy with centrotemporal spikes blepharospasm brain cancer breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma cellular ependymoma cerebral degeneration childhood ependymoma childhood medulloblastoma chylomicron retention disease colitis colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma combined saposin deficiency congenital hypothyroidism congenital nongoitrous hypothyroidism 1 congenital nongoitrous hypothyroidism 2 congenital nongoitrous hypothyroidism 3 congenital nongoitrous hypothyroidism 4 congenital nongoitrous hypothyroidism 5 congenital nongoitrous hypothyroidism 6 congenital nystagmus cystic fibrosis dementia dentatorubral-pallidoluysian atrophy developmental coordination disorder dissociated nystagmus early myoclonic encephalopathy embryoma epilepsy facial nerve disease facial paralysis focal hand dystonia gastroenteritis gastrointestinal system cancer giant cell glioblastoma glaucoma glioblastoma gonadal dysgenesis head and neck cancer head and neck squamous cell carcinoma herpes simplex high grade glioma hyperglycemia hypoparathyroidism hypothyroidism idiopathic generalized epilepsy idiopathic interstitial pneumonia ileitis ileocolitis intellectual disability invasive ductal carcinoma large intestine cancer lateral sclerosis learning disability lipid storage disease lung benign neoplasm lung cancer lung carcinoma lysosomal storage disease measles medulloblastoma medullomyoblastoma melanoma melanotic medulloblastoma motor neuron disease myxedema myxopapillary ependymoma neonatal diabetes neurodegenerative disease neuroectodermal tumor obesity ocular melanoma osteoporosis pancreatic cancer pancreatic carcinoma papillary carcinoma papillary ependymoma pathologic nystagmus pneumonia postinflammatory pulmonary fibrosis progressive muscular atrophy progressive myoclonus epilepsy 1A progressive myoclonus epilepsy prostate cancer prostate carcinoma pseudohypoparathyroidism type IB pseudohypoparathyroidism pseudopseudohypoparathyroidism pulmonary fibrosis rectal benign neoplasm rectum adenocarcinoma rectum cancer recurrent corneal erosion retinitis pigmentosa-deafness syndrome retinoblastoma rheumatoid arthritis sarcomatoid carcinoma schizophrenia scoliosis sensorineural hearing loss skin melanoma speech disorder sphingolipidosis spinal muscular atrophy with progressive myoclonic epilepsy spinal muscular atrophy spontaneous ocular nystagmus tanycytic ependymoma thyroid adenoma thyroid cancer thyroid gland carcinoma transient neonatal diabetes mellitus viral infectious disease
116969	ADP-ribosyltransferase 5	ART5 ARTC5	cholera
420	ADP-ribosyltransferase 4 (inactive) (Dombrock blood group)	ART4 ARTC4 CD297 DOK1 NAD(+)--protein-arginine ADP-ribosyltransferase 4	carotid artery thrombosis carotid stenosis conjunctivitis
419	ADP-ribosyltransferase 3 (inactive)	ART3 ARTC3	azoospermia cancer melanoma patent ductus arteriosus skin melanoma steatotic liver disease
417	ADP-ribosyltransferase 1	ART1 ART2 ARTC1 CD296	arthritis arthropathy astigmatism cancer central nervous system cancer colon carcinoma colorectal cancer colorectal carcinoma embryoma giant cell glioblastoma glioblastoma gliosarcoma glomerulonephritis hepatocellular carcinoma high grade glioma kidney disease large intestine cancer liver cancer mixed glioma nasopharynx carcinoma nephritis pancreatic cancer pancreatic carcinoma squamous cell carcinoma tongue squamous cell carcinoma tuberculosis

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