GlyCosmos Portal

Homo sapiens (human)

Summary

Taxonomy ID: 9606
PubChem Taxonomy: 9606

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

Displaying entries **1101 - 1125** of **1582** in total

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Gene ID	Gene Name	Gene Symbol ▼	Disease Ontology
6785	ELOVL fatty acid elongase 4	ELOVL4 CT118 cancer/testis antigen 118	Kuhnt-Junius degeneration Leber congenital amaurosis Sjogren-Larsson syndrome Stargardt disease achromatopsia acquired color blindness acquired hyperkeratosis acute myocardial infarction age related macular degeneration alternating hemiplegia of childhood angioedema anhidrosis autonomic neuropathy autosomal dominant cerebellar ataxia autosomal recessive congenital ichthyosis 1 autosomal recessive congenital ichthyosis blindness blue color blindness cancer cardiac arrest central nervous system disease cerebellar ataxia cerebellar disease color blindness cone-rod dystrophy 2 cone-rod dystrophy 7 cone-rod dystrophy congenital nystagmus congenital stationary night blindness 1A congenital stationary night blindness corneal dystrophy coronary thrombosis degeneration of macula and posterior pole diabetes mellitus diabetic ketoacidosis dissociated nystagmus dry eye syndrome epilepsy erythrokeratodermia variabilis et progressiva 1 erythrokeratodermia variabilis eye disease fundus albipunctatus glycogen storage disease II granuloma annulare hepatocellular carcinoma hypertropia hypohidrosis ichthyosis inguinal hernia keratosis follicularis liver cancer locked-in syndrome macular degeneration mechanical strabismus mongolian spot myocardial infarction nervous system disease neurodegenerative disease night blindness obsolete congenital ichthyosiform erythroderma ophthalmoplegia pathologic nystagmus pseudoxanthoma elasticum quadriplegia red color blindness red-green color blindness retinitis pigmentosa 25 retinitis pigmentosa 30 retinitis pigmentosa silent myocardial infarction skin disease spinocerebellar ataxia type 34 spontaneous ocular nystagmus strabismus thrombocytopenia type 2 diabetes mellitus urticaria visual epilepsy xerophthalmia
83401	ELOVL fatty acid elongase 3	ELOVL3 CIG-30	amnestic disorder atopic dermatitis dermatitis diabetes mellitus diabetic ketoacidosis ichthyosis prostate cancer prostate carcinoma retrograde amnesia type 2 diabetes mellitus
54898	ELOVL fatty acid elongase 2	ELOVL2 Ssc2	acute chest syndrome acute myocardial infarction autism spectrum disorder autistic disorder central nervous system cancer coronary artery disease coronary thrombosis giant cell glioblastoma glioblastoma gliosarcoma hepatocellular carcinoma high grade glioma liver cancer melanoma mixed glioma myocardial infarction papillary adenocarcinoma papillary renal cell carcinoma silent myocardial infarction skin melanoma steatotic liver disease thyroid gland papillary carcinoma
64834	ELOVL fatty acid elongase 1	ELOVL1 Ssc1	Cauda equina syndrome acanthosis nigricans acrodermatitis adrenoleukodystrophy cancer dermatitis dry eye syndrome hyperglycemia neurogenic bladder obsolete asthenopia xerophthalmia
1962	enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase	EHHADH	D-bifunctional protein deficiency Fanconi renotubular syndrome 3 Fanconi syndrome Laron syndrome Zollinger-Ellison syndrome achondroplasia amyloidosis bipolar disorder cancer carnitine palmitoyltransferase II deficiency cystinosis cystinuria cytochrome-c oxidase deficiency disease familial hyperinsulinemic hypoglycemia 1 familial hyperinsulinemic hypoglycemia 2 galactosemia gallbladder disease glucosephosphate dehydrogenase deficiency glycogen storage disease IXa glycogen storage disease IXb glycogen storage disease IXc glycogen storage disease IXd glycogen storage disease Ia glycogen storage disease hepatocellular carcinoma hyperinsulinemic hypoglycemia hyperinsulinism liver cancer liver disease mitochondrial trifunctional protein deficiency osteomalacia prostate cancer prostate carcinoma proteinuria rickets spondyloepimetaphyseal dysplasia, Sponastrime type substance abuse substance-related disorder tuberculosis
1946	ephrin A5	EFNA5 AF1 EPH-related receptor tyrosine kinase ligand 7 LERK7	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 Ambras type hypertrichosis universalis congenita IGSF1 deficiency syndrome Norum disease Pick's disease Reye syndrome Tangier disease abdominal aortic aneurysm abetalipoproteinemia acquired immunodeficiency syndrome acute lymphoblastic leukemia acute myeloid leukemia adult medulloblastoma amyotrophic lateral sclerosis anencephaly arteriosclerotic cardiovascular disease atherosclerosis atrial fibrillation blindness breast cancer breast carcinoma bulimia nervosa cancer cardiovascular system disease cataract cerebral degeneration cerebral infarction cerebral palsy cerebrovascular disease childhood medulloblastoma chondrosarcoma choreaacanthocytosis colitis conduct disorder 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 coronary artery disease cystic fibrosis diffuse large B-cell lymphoma embryoma enophthalmos familial hypobetalipoproteinemia 1 gastric ulcer gastroenteritis heart disease hemiplegia hepatocellular carcinoma human immunodeficiency virus infectious disease hypobetalipoproteinemia hypolipoproteinemia hypothyroidism ileitis ileocolitis infertility inflammatory bowel disease 1 inflammatory bowel disease liver cancer lymphoblastic lymphoma medulloblastoma medullomyoblastoma melanotic medulloblastoma myxedema nicotine dependence nutmeg liver obsessive-compulsive disorder obsolete exophthalmos orbital disease peripheral vascular disease progressive muscular atrophy prostate cancer prostate carcinoma schizophrenia sclerocornea senile cataract spastic diplegia spastic monoplegia spastic quadriplegic cerebral palsy synovitis systemic lupus erythematosus tenosynovitis thrombocytopenia ulcerative colitis
1943	ephrin A2	EFNA2 ELF-1 EPH-related receptor tyrosine kinase ligand 6 LERK6	acute myeloid leukemia breast cancer breast carcinoma cancer cervical adenocarcinoma cervical cancer cervix carcinoma chronic granulomatous disease embryoma endometrial cancer endometrial carcinoma familial retinoblastoma gastrointestinal system cancer giant cell glioblastoma glioblastoma high grade glioma lupus erythematosus nasopharynx carcinoma nodular prostate pancreatic cancer pancreatic carcinoma prostate cancer prostate carcinoma prostatic adenoma retinoblastoma stomach cancer stomach carcinoma systemic lupus erythematosus trilateral retinoblastoma uterine corpus cancer
1942	ephrin A1	EFNA1 ECKLG EPH-related receptor tyrosine kinase ligand 1 GMAN LERK1 Tumor necrosis factor alpha-induced protein 4 gastric cancer metastasis associated long noncoding RNA	acute myocardial infarction adenocarcinoma adenoma allergic asthma arteriovenous malformation asthma benign giant cell tumor bladder carcinoma bone osteosarcoma botryoid rhabdomyosarcoma breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma central nervous system cancer childhood osteosarcoma chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma colon carcinoma colorectal cancer colorectal carcinoma coronary thrombosis cribriform carcinoma diabetic ketoacidosis distal arthrogryposis embryoma embryonal rhabdomyosarcoma esophagus squamous cell carcinoma gliosarcoma granular cell carcinoma hepatocellular carcinoma high grade glioma intestinal benign neoplasm intestinal cancer intrinsic asthma large intestine cancer liver cancer lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma malignant pleural mesothelioma melanoma mixed glioma myocardial infarction nonpapillary renal cell carcinoma obsolete type 1 diabetes mellitus 9 osteosarcoma ovarian cancer ovarian carcinoma papillary renal cell carcinoma pre-eclampsia primary pulmonary hypertension renal carcinoma renal cell carcinoma sarcomatoid carcinoma sarcomatoid renal cell carcinoma silent myocardial infarction skin melanoma squamous cell carcinoma stomach cancer stomach carcinoma tongue squamous cell carcinoma transitional cell carcinoma tubular adenocarcinoma type 1 diabetes mellitus 10 type 1 diabetes mellitus 11 type 1 diabetes mellitus 12 type 1 diabetes mellitus 13 type 1 diabetes mellitus 15 type 1 diabetes mellitus 17 type 1 diabetes mellitus 18 type 1 diabetes mellitus 19 type 1 diabetes mellitus 20 type 1 diabetes mellitus 21 type 1 diabetes mellitus 22 type 1 diabetes mellitus 23 type 1 diabetes mellitus 24 type 1 diabetes mellitus 2 type 1 diabetes mellitus 3 type 1 diabetes mellitus 4 type 1 diabetes mellitus 5 type 1 diabetes mellitus 6 type 1 diabetes mellitus 7 type 1 diabetes mellitus 8 type 1 diabetes mellitus urinary bladder cancer
80267	ER degradation enhancing alpha-mannosidase like protein 3	EDEM3	congenital disorder of glycosylation type II hepatitis C prostate cancer prostate carcinoma
55741	ER degradation enhancing alpha-mannosidase like protein 2	EDEM2 FLJ10783 bA4204.1	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 Pick's disease Reye syndrome cerebral degeneration leiomyoma myofibroma schizophrenia uterine fibroid
9695	ER degradation enhancing alpha-mannosidase like protein 1	EDEM1 EDEM KIAA0212	cystic fibrosis depressive disorder hepatitis C major depressive disorder melancholic depression melanoma neurotic disorder obsolete melancholia skin melanoma
10455	enoyl-CoA delta isomerase 2	ECI2 ACBD2 DRS1 HCA88 Hepatocellular carcinoma-associated antigen 88 acyl-Coenzyme A binding domain containing 2	aplastic anemia paroxysmal nocturnal hemoglobinuria prostate cancer prostate carcinoma pure red-cell aplasia
1632	enoyl-CoA delta isomerase 1	ECI1 3,2 trans-enoyl-CoA isomerase	achalasia carcinoma congenital diaphragmatic hernia dilated cardiomyopathy 1A dilated cardiomyopathy esophagitis gastroesophageal reflux disease hiatus hernia megaesophagus peptic esophagitis
1892	enoyl-CoA hydratase, short chain 1	ECHS1 SCEH short chain enoyl-CoA hydratase	3-methylglutaconic aciduria Balo concentric sclerosis Hailey-Hailey disease Leigh disease Rothmund-Thomson syndrome adrenoleukodystrophy alcohol dependence alcohol use disorder anemia 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 breast cancer breast carcinoma cancer cardiomyopathy central nervous system disease childhood onset GLUT1 deficiency syndrome 2 chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma cone-rod dystrophy congenital nystagmus congenital ptosis cutis laxa disease of metabolism dissociated nystagmus dystonia embryoma endomyocardial fibrosis epilepsy familial hypertrophic cardiomyopathy focal hand dystonia fundus albipunctatus generalized dystonia giant cell glioblastoma glioblastoma hepatitis A hepatitis hepatocellular carcinoma high grade glioma hypertrichosis hypertrophic cardiomyopathy hypertropia inherited metabolic disorder lactic acidosis leukodystrophy lingual-facial-buccal dyskinesia liver cancer liver carcinoma macrocytic anemia mal de Meleda mechanical strabismus mitochondrial metabolism disease narcolepsy nervous system disease neuropathy nonpapillary renal cell carcinoma obesity ophthalmoplegia optic atrophy overnutrition papillary renal cell carcinoma pathologic nystagmus peripheral nervous system disease periventricular leukomalacia ptosis pyruvate carboxylase deficiency disease pyruvate decarboxylase deficiency renal carcinoma renal cell carcinoma restrictive dermopathy retinitis pigmentosa sarcomatoid renal cell carcinoma sensorineural hearing loss spontaneous ocular nystagmus stomach cancer stomach carcinoma strabismus syndromic X-linked intellectual disability 94 ventricular septal defect visual epilepsy
55862	ethylmalonyl-CoA decarboxylase 1	ECHDC1 dJ351K20.2	bladder carcinoma breast cancer breast carcinoma melanoma ovarian cancer ovarian carcinoma skin melanoma urinary bladder cancer
10682	EBP cholestenol delta-isomerase	EBP 3-beta-hydroxysteroid-delta-8,delta-7-isomerase CHO2 CPX CPXD Chondrodysplasia punctata-2, X-linked dominant (Happle syndrome) sterol 8-isomerase	Alzheimer's disease Balo concentric sclerosis Dandy-Walker syndrome Klinefelter syndrome Klippel-Feil syndrome Krabbe disease Laron syndrome MEND syndrome Marfan syndrome Patau syndrome Peters anomaly Sjogren-Larsson syndrome X-linked chondrodysplasia punctata 1 X-linked chondrodysplasia punctata 2 X-linked cleft palate with or without ankyloglossia achondroplasia actinic keratosis acute lymphoblastic leukemia acute monocytic leukemia acute myeloid leukemia acute promyelocytic leukemia adrenoleukodystrophy adult fibrosarcoma allergic asthma alopecia ankyloglossia aortic valve disease 2 aortic valve stenosis arteriosclerotic cardiovascular disease asthma atherosclerosis atypical chronic myeloid leukemia, BCR-ABL1 negative autoimmune lymphoproliferative syndrome type 2A autoimmune lymphoproliferative syndrome type 2B autoimmune lymphoproliferative syndrome type 3 autoimmune lymphoproliferative syndrome autosomal dominant chondrodysplasia punctata autosomal recessive congenital ichthyosis 1 autosomal recessive congenital ichthyosis bladder carcinoma brain stem infarction breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer cartilage-hair hypoplasia cataract central nervous system cancer central nervous system disease cerebral artery occlusion cerebral infarction cerebrovascular disease childhood acute myeloid leukemia childhood leukemia chondrodysplasia punctata choriocarcinoma chromophobe renal cell carcinoma chronic monocytic leukemia chronic myeloid leukemia clear cell renal cell carcinoma cleft palate clubfoot collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma communicating hydrocephalus congenital heart disease congenital nystagmus congenital ptosis congestive heart failure cornea plana coronary artery disease cryptorchidism cystic fibrosis dementia diabetes mellitus dissociated nystagmus embryoma epilepsy essential hypertension essential thrombocythemia familial retinoblastoma fibrosarcoma gastrointestinal system cancer giant cell glioblastoma glaucoma glioblastoma gliosarcoma granuloma annulare hematologic cancer hemophilia B hepatitis B hepatitis C hepatocellular carcinoma high grade glioma hydrocephalus hydronephrosis hyperostosis hypertension ichthyosis intellectual disability intrinsic asthma isolated cleft palate keratosis follicularis kidney failure large intestine cancer laryngeal disease learning disability leiomyoma leukemia liver cancer lung benign neoplasm lung cancer lung carcinoma lymphoblastic lymphoma lymphoid leukemia lymphoproliferative syndrome 1 lymphoproliferative syndrome 2 melanoma microphthalmia mixed glioma mixed-type liposarcoma mongolian spot mucopolysaccharidosis IV multicentric Castleman disease multiple epiphyseal dysplasia myelodysplastic syndrome myeloid leukemia myofibroma myxoid liposarcoma narcolepsy nervous system disease neuroblastoma nonpapillary renal cell carcinoma nutmeg liver obesity obsolete congenital ichthyosiform erythroderma obstructive hydrocephalus optic atrophy osteochondrodysplasia osteomyelitis papillary adenocarcinoma papillary renal cell carcinoma papilloma pathologic nystagmus placenta cancer polydactyly polyhydramnios pseudoxanthoma elasticum ptosis renal carcinoma renal cell carcinoma retinoblastoma rheumatoid arthritis rhizomelic chondrodysplasia punctata type 1 rhizomelic chondrodysplasia punctata type 2 rhizomelic chondrodysplasia punctata type 3 sarcomatoid renal cell carcinoma schizophrenia scoliosis seborrheic keratosis senile degeneration of brain sensorineural hearing loss situs inversus skin disease skin melanoma spondylolisthesis spontaneous ocular nystagmus squamous cell carcinoma squamous cell papilloma steatotic liver disease stomach cancer stomach carcinoma systemic Epstein-Barr virus positive T-cell lymphoma of childhood thyroid gland papillary carcinoma tongue squamous cell carcinoma tracheal calcification tracheal disease tracheal stenosis trilateral retinoblastoma tuberous sclerosis type 2 diabetes mellitus urinary bladder cancer uterine fibroid visual epilepsy
92126	dermatan sulfate epimerase like	DSEL	colorectal cancer colorectal carcinoma congenital diaphragmatic hernia diabetes mellitus hiatus hernia large intestine cancer microphthalmia type 2 diabetes mellitus
29940	dermatan sulfate epimerase	DSE DS-Epi1 DSEPI	Ehlers-Danlos syndrome musculocontractural type 2 Ehlers-Danlos syndrome atrial heart septal defect 1 atrial heart septal defect 2 atrial heart septal defect 3 atrial heart septal defect 4 atrial heart septal defect 5 atrial heart septal defect 6 atrial heart septal defect 7 atrial heart septal defect 8 atrial heart septal defect 9 atrial heart septal defect breast cancer breast carcinoma cancer cardiovascular system disease cerebral degeneration clubfoot craniosynostosis diabetes mellitus diabetic ketoacidosis embryoma fibromyalgia gastroschisis heart disease hepatocellular carcinoma inguinal hernia liver cancer mitral valve insufficiency mitral valve prolapse myositis osteogenesis imperfecta patent foramen ovale postural orthostatic tachycardia syndrome type 2 diabetes mellitus
286148	dpy-19 like 4	DPY19L4
147991	dpy-19 like C-mannosyltransferase 3	DPY19L3	depressive disorder major depressive disorder melancholic depression obsolete melancholia
283417	dpy-19 like 2	DPY19L2 FLJ32949 SPATA34 spermatogenesis associated 34	azoospermia spermatogenic failure 9
23333	dpy-19 like C-mannosyltransferase 1	DPY19L1 KIAA0877
54344	dolichyl-phosphate mannosyltransferase subunit 3, regulatory	DPM3 DPM synthase complex subunit MGC125904 MGC125905 MGC34275	Duchenne muscular dystrophy autosomal dominant Emery-Dreifuss muscular dystrophy 2 autosomal dominant limb-girdle muscular dystrophy type 1 autosomal dominant limb-girdle muscular dystrophy type 1H autosomal dominant limb-girdle muscular dystrophy type 2 autosomal dominant limb-girdle muscular dystrophy type 3 autosomal dominant limb-girdle muscular dystrophy autosomal recessive limb-girdle muscular dystrophy type 2A autosomal recessive limb-girdle muscular dystrophy type 2B autosomal recessive limb-girdle muscular dystrophy type 2C autosomal recessive limb-girdle muscular dystrophy type 2D autosomal recessive limb-girdle muscular dystrophy type 2E autosomal recessive limb-girdle muscular dystrophy type 2F autosomal recessive limb-girdle muscular dystrophy type 2G autosomal recessive limb-girdle muscular dystrophy type 2H autosomal recessive limb-girdle muscular dystrophy type 2I autosomal recessive limb-girdle muscular dystrophy type 2J autosomal recessive limb-girdle muscular dystrophy type 2K autosomal recessive limb-girdle muscular dystrophy type 2L autosomal recessive limb-girdle muscular dystrophy type 2M autosomal recessive limb-girdle muscular dystrophy type 2N autosomal recessive limb-girdle muscular dystrophy type 2O autosomal recessive limb-girdle muscular dystrophy type 2P autosomal recessive limb-girdle muscular dystrophy type 2Q autosomal recessive limb-girdle muscular dystrophy type 2S autosomal recessive limb-girdle muscular dystrophy type 2T autosomal recessive limb-girdle muscular dystrophy type 2U autosomal recessive limb-girdle muscular dystrophy type 2Y autosomal recessive limb-girdle muscular dystrophy cardiomyopathy clubfoot congenital disorder of glycosylation type I congenital muscular dystrophy distal myopathy endomyocardial fibrosis facioscapulohumeral muscular dystrophy hypertrophic cardiomyopathy isolated elevated serum creatine phosphokinase levels limb-girdle muscular dystrophy muscular dystrophy-dystroglycanopathy type B15 muscular dystrophy myofibrillar myopathy 1 myofibrillar myopathy 3 obsolete autosomal dominant limb-girdle muscular dystrophy type 1A obsolete autosomal dominant limb-girdle muscular dystrophy type 1B obsolete autosomal dominant limb-girdle muscular dystrophy type 1C obsolete autosomal recessive limb-girdle muscular dystrophy type 2R oculopharyngeal muscular dystrophy rippling muscle disease 2
8818	dolichyl-phosphate mannosyltransferase subunit 2, regulatory	DPM2 DPM synthase complex subunit MGC111193 MGC21559	Duchenne muscular dystrophy adult respiratory distress syndrome angle-closure glaucoma antithrombin III deficiency 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 chronic closed-angle glaucoma congenital disorder of glycosylation Iu congenital disorder of glycosylation type I congenital muscular dystrophy distal myopathy epilepsy exfoliation syndrome facioscapulohumeral muscular dystrophy glaucoma isolated elevated serum creatine phosphokinase levels limb-girdle muscular dystrophy muscular dystrophy myofibrillar myopathy 1 myofibrillar myopathy 3 newborn respiratory distress syndrome obsolete autosomal dominant limb-girdle muscular dystrophy type 1A obsolete autosomal dominant limb-girdle muscular dystrophy type 1B obsolete autosomal dominant limb-girdle muscular dystrophy type 1C obsolete autosomal recessive limb-girdle muscular dystrophy type 2R oculopharyngeal muscular dystrophy polyhydramnios primary angle-closure glaucoma protein C deficiency protein S deficiency rippling muscle disease 2 scoliosis thrombophilia
8813	dolichyl-phosphate mannosyltransferase subunit 1, catalytic	DPM1 CDGIE DPM synthase complex, catalytic subunit MPDS	Duchenne muscular dystrophy antithrombin III deficiency 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 capillary disease cavernous hemangioma chorioangioma congenital disorder of glycosylation Ie congenital disorder of glycosylation Iq congenital disorder of glycosylation type I congenital muscular dystrophy distal myopathy facioscapulohumeral muscular dystrophy glomus tumor hemangioma hereditary hemorrhagic telangiectasia histiocytoid hemangioma intramuscular hemangioma isolated elevated serum creatine phosphokinase levels limb-girdle muscular dystrophy lymphangioma microcephaly muscular dystrophy myofibrillar myopathy 1 myofibrillar myopathy 3 nonsyndromic congenital nail disorder 9 obsolete autosomal dominant limb-girdle muscular dystrophy type 1A obsolete autosomal dominant limb-girdle muscular dystrophy type 1B obsolete autosomal dominant limb-girdle muscular dystrophy type 1C obsolete autosomal recessive limb-girdle muscular dystrophy type 2R oculopharyngeal muscular dystrophy patent ductus arteriosus protein C deficiency protein S deficiency rippling muscle disease 2 telangiectasis thrombophilia

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