GlyCosmos Portal

Source	Last Updated
GlyConnect	April 19, 2023
GlycoProtDB	October 1, 2021
GlyGen	June 4, 2024
The O-GlcNAc Database	June 3, 2024
UniProt	June 4, 2024

Displaying entries **501 - 525** of **126547** in total

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UniProt ID	Protein Name	Gene Symbol	Organism	No. of Glycosylation Sites	No. of GlyTouCan IDs	Disease Ontology ▼
Q9H5J4	Very long chain fatty acid elongase 6	ELOVL6 FACE LCE	Homo sapiens (human)	2	2	Fanconi anemia complementation group A Fanconi anemia Zollinger-Ellison syndrome accommodative esotropia acrodermatitis acute myeloid leukemia acute myocardial infarction allergic contact dermatitis amnestic disorder arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis atopic dermatitis azoospermia bronchus cancer bronchus carcinoma cancer cone-rod dystrophy congestive heart failure coronary artery disease coronary thrombosis dermatitis diabetes mellitus disease of metabolism dissociative amnesia fundus albipunctatus hepatocellular carcinoma hyperinsulinism idiopathic interstitial pneumonia idiopathic pulmonary fibrosis liver cancer liver carcinoma lung benign neoplasm lung cancer lung carcinoma myocardial infarction nodular prostate obesity parapsoriasis postinflammatory pulmonary fibrosis prostatic adenoma psoriasis psoriatic arthritis pulmonary fibrosis pustulosis of palm and sole retinitis pigmentosa silent myocardial infarction steatotic liver disease type 2 diabetes mellitus
P20073	Annexin A7	ANXA7 ANX7 SNX	Homo sapiens (human)	0	1	Fanconi anemia complementation group A Fanconi anemia Richter's syndrome acute myocardial infarction adenocarcinoma adenoma breast cancer breast carcinoma cancer cardiovascular system disease central nervous system cancer childhood leukemia chronic lymphocytic leukemia colorectal cancer colorectal carcinoma coronary thrombosis craniosynostosis cribriform carcinoma embryoma esophageal cancer esophageal carcinoma gastric adenocarcinoma giant cell glioblastoma glioblastoma gliosarcoma granular cell carcinoma heart disease hepatocellular carcinoma high grade glioma large intestine cancer leukemia liver cancer liver carcinoma malaria melanoma mixed glioma myocardial infarction nasopharynx carcinoma nodular prostate prostate cancer prostate carcinoma prostatic adenoma silent myocardial infarction skin melanoma stomach cancer stomach carcinoma tubular adenocarcinoma
O00462	Beta-mannosidase	MANBA MANB1	Homo sapiens (human)	8	13	Fabry disease allergic asthma allergic disease alternating hemiplegia of childhood angiokeratoma ascending cholangitis asthma attention deficit hyperactivity disorder autonomic neuropathy beta-mannosidosis central nervous system disease cholangitis chronic kidney disease chylomicron retention disease colorectal cancer colorectal carcinoma complement deficiency congenital nystagmus dissociated nystagmus epilepsy intellectual disability intrinsic asthma large intestine cancer learning disability lipid storage disease lysosomal storage disease multiple sclerosis nervous system disease obsolete constipation pathologic nystagmus primary biliary cholangitis primary sclerosing cholangitis sarcoidosis sclerosing cholangitis sensorineural hearing loss speech disorder spontaneous ocular nystagmus suppurative cholangitis uveoparotid fever visual epilepsy
Q9UK23	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	NAGPA	Homo sapiens (human)	6	2	Fabry disease alexia chylomicron retention disease dyslexia glycoproteinosis lipid storage disease mucolipidosis II alpha/beta mucolipidosis III alpha/beta mucopolysaccharidosis III mucopolysaccharidosis type IIIB neurodegenerative disease stuttering
Q7L5L3	Lysophospholipase D GDPD3	GDPD3 GDE7	Homo sapiens (human)	0	1	Fabry disease Wolman disease chylomicron retention disease lipid storage disease
Q9UJJ9	N-acetylglucosamine-1-phosphotransferase subunit gamma	GNPTG C16orf27 GNPTAG	Homo sapiens (human)	11	20	Fabry disease Laron syndrome achondroplasia alexia aortic valve disease 2 aortic valve insufficiency aortic valve stenosis chylomicron retention disease cone-rod dystrophy dyslexia fundus albipunctatus glycoproteinosis lipid storage disease lysosomal storage disease mucolipidosis II alpha/beta mucolipidosis III alpha/beta mucopolysaccharidosis I mucopolysaccharidosis II mucopolysaccharidosis III mucopolysaccharidosis IV mucopolysaccharidosis Ih mucopolysaccharidosis VI mucopolysaccharidosis myopia osteochondrodysplasia retinitis pigmentosa scoliosis stuttering
P35575	Glucose-6-phosphatase catalytic subunit 1	G6PC1 G6PC G6PT	Homo sapiens (human)	3	1	Fabry disease Gerstmann-Straussler-Scheinker syndrome Gorham's disease Laron syndrome Zollinger-Ellison syndrome achondroplasia acute pancreatitis adenocarcinoma adenoma agranulocytosis anemia blood coagulation disease bone marrow cancer breast cancer cancer carcinoma chromophobe renal cell carcinoma chronic kidney disease chylomicron retention disease clear cell renal cell carcinoma collecting duct carcinoma cystinuria diabetes mellitus diabetic ketoacidosis disease of metabolism embryoma endometrial adenocarcinoma endometrial cancer endometrial carcinoma epilepsy essential hypertension eyelid disease familial hyperlipidemia familial periodic paralysis focal segmental glomerulosclerosis follicular adenoma galactosemia gallbladder disease gastrointestinal system disease gestational diabetes giant cell glioblastoma glioblastoma glomerulonephritis glucose intolerance glucose metabolism disease glucosephosphate dehydrogenase deficiency glycogen storage disease II glycogen storage disease III glycogen storage disease IV glycogen storage disease IXa glycogen storage disease IXb glycogen storage disease IXc glycogen storage disease IXd glycogen storage disease Ia glycogen storage disease VI glycogen storage disease VII glycogen storage disease VIII glycogen storage disease gout hepatitis C hepatocellular carcinoma high grade glioma hyperglycemia hyperinsulinism hypertension hyperuricemia hypoglycemia insulinoma intestinal disease kidney disease kidney failure kwashiorkor lactic acidosis leukopenia lipid storage disease liver cancer liver disease macrocytic anemia marasmus methemoglobinemia microcystic adenoma myeloproliferative neoplasm myopathy nephritis nephrolithiasis nephrosis neuroblastoma neutropenia nonpapillary renal cell carcinoma nutrition disease obesity obsolete type 1 diabetes mellitus 9 osteoporosis ovarian cancer ovarian carcinoma pancreatitis papillary adenoma papillary renal cell carcinoma placental insufficiency polycystic ovary syndrome prediabetes syndrome protein-energy malnutrition proteinuria pyoureter renal carcinoma renal cell carcinoma sarcomatoid carcinoma sarcomatoid renal cell carcinoma severe congenital neutropenia steatotic liver disease sudden infant death syndrome sulfhemoglobinemia 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 uremia uric acid nephrolithiasis uterine corpus cancer visual epilepsy xanthomatosis
P06280	Alpha-galactosidase A	GLA	Homo sapiens (human)	3	44	Fabry disease Gaucher's disease Goodpasture syndrome Horner's syndrome Laron syndrome Meckel syndrome Moyamoya disease Niemann-Pick disease Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Riley-Day syndrome Takayasu's arteritis X-linked agammaglobulinemia Zollinger-Ellison syndrome achondroplasia acquired hyperkeratosis acute myocardial infarction allergic asthma anemia angiokeratoma anhidrosis antithrombin III deficiency anxiety disorder arthritis arthropathy asthma atrial fibrillation atrioventricular block autosomal dominant polycystic kidney disease bacterial vaginosis breast cancer breast fibrocystic disease brucellosis cancer cardiomyopathy cardiovascular system disease cataract central nervous system origin vertigo cerebral infarction cerebrovascular disease chronic kidney disease chronic obstructive pulmonary disease chylomicron retention disease congenital hypogammaglobulinemia congestive heart failure corneal dystrophy coronary thrombosis cystinuria depressive disorder diabetes insipidus diabetes mellitus diabetic ketoacidosis diarrhea disease of metabolism dysthymic disorder elephantiasis endomyocardial fibrosis epilepsy erythromelalgia essential hypertension familial hyperlipidemia familial hypertrophic cardiomyopathy familial mediterranean fever familial nephrotic syndrome fibromyalgia galactosemia generalized anxiety disorder glaucoma glomerulonephritis glucosephosphate dehydrogenase deficiency glycogen storage disease II glycogen storage disease IXa glycogen storage disease IXb glycogen storage disease IXc glycogen storage disease IXd glycogen storage disease Ia glycogen storage disease granulomatosis with polyangiitis heart disease hyperinsulinism hypertension hypertrophic cardiomyopathy 1 hypertrophic cardiomyopathy hypoglycemia hypohidrosis influenza inherited metabolic disorder interstitial nephritis intrinsic asthma keratosis follicularis kidney disease kidney failure late onset Parkinson's disease lipid storage disease lipoid nephrosis lung disease lymphedema lysosomal storage disease macrocytic anemia major depressive disorder melancholic depression mevalonic aciduria microglandular adenosis mitral valve insufficiency mitral valve prolapse mongolian spot multiple sclerosis myocardial infarction myositis nephritis nephrosis nephrotic syndrome neurohypophyseal diabetes insipidus neuropathy neurotic disorder obsolete melancholia obsolete type 1 diabetes mellitus 9 obstructive lung disease optic atrophy osteoarthritis papillary adenocarcinoma papillary renal cell carcinoma peripheral nervous system disease pneumonia polyarteritis nodosa polyneuropathy priapism protein C deficiency protein S deficiency proteinuria pseudoxanthoma elasticum pyelitis pyelonephritis pyoureter recurrent corneal erosion renal infectious disease sensorineural hearing loss sick sinus syndrome silent myocardial infarction sphingolipidosis thrombophilia thyroid gland papillary carcinoma transient cerebral ischemia tuberculosis 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 uremia vaginitis vascular disease vertebrobasilar insufficiency visual epilepsy vitamin K deficiency bleeding vulvitis vulvovaginal candidiasis vulvovaginitis
Q9HCU0	Endosialin	CD248 CD164L1 TEM1	Homo sapiens (human)	34	4	Ewing sarcoma anaplastic astrocytoma arachnoiditis arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy atherosclerosis autoimmune disease autoimmune lymphoproliferative syndrome bone osteosarcoma brain cancer cancer carcinoma childhood cerebral astrocytoma childhood osteosarcoma chronic kidney disease colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma coronary artery disease diarrhea disease of metabolism embryoma epithelioid sarcoma fibrillary astrocytoma gemistocytic astrocytoma giant cell glioblastoma glioblastoma hepatocellular carcinoma high grade glioma idiopathic interstitial pneumonia idiopathic pulmonary fibrosis immune system disease influenza juvenile pilocytic astrocytoma large intestine cancer liver cancer liver cirrhosis lung small cell carcinoma malignant astrocytoma melanoma meningitis neuroblastoma obesity osteosarcoma ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma pilocytic astrocytoma pneumonia protoplasmic astrocytoma psoriatic arthritis rheumatoid arthritis sarcoma sarcomatoid carcinoma scleroderma shigellosis skin benign neoplasm skin cancer skin melanoma spindle cell sarcoma squamous cell carcinoma stomach cancer stomach carcinoma subependymal giant cell astrocytoma systemic scleroderma thrombotic thrombocytopenic purpura tongue squamous cell carcinoma urinary tract obstruction
P21854	B-cell differentiation antigen CD72	CD72	Homo sapiens (human)	1	3	Evans' syndrome acute lymphoblastic leukemia adult acute lymphocytic leukemia arthus reaction autoimmune thrombocytopenic purpura benign mastocytoma childhood acute lymphocytic leukemia extracutaneous mastocytoma lupus erythematosus mast cell neoplasm mastocytosis scleroderma systemic lupus erythematosus systemic scleroderma thrombocytopenia due to platelet alloimmunization thrombocytopenia urticaria pigmentosa
O95243	Methyl-CpG-binding domain protein 4	MBD4 MED1	Homo sapiens (human)	1	2	Evans' syndrome Hantavirus hemorrhagic fever with renal syndrome Marinesco-Sjogren syndrome abdominal aortic aneurysm achromatopsia acquired color blindness acute monocytic leukemia acute myeloid leukemia adenocarcinoma adenoma aortic aneurysm autistic disorder autoimmune thrombocytopenic purpura biliary atresia bladder carcinoma blue color blindness breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma central nervous system cancer cervical adenocarcinoma cervical cancer cervix carcinoma colon cancer colon carcinoma colonic benign neoplasm color blindness colorectal cancer colorectal carcinoma cribriform carcinoma disease of metabolism embryoma endometrial cancer endometrial carcinoma esophagus squamous cell carcinoma follicular adenoma gastrointestinal system cancer gliosarcoma granular cell carcinoma hepatocellular carcinoma high grade glioma large intestine cancer liver cancer lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma microcystic adenoma mixed glioma osteomyelitis papillary adenoma primary cerebellar degeneration red color blindness red-green color blindness rheumatoid arthritis sarcomatoid carcinoma scleroderma stomach cancer stomach carcinoma systemic lupus erythematosus systemic scleroderma temporal arteritis thrombocytopenia due to platelet alloimmunization thrombocytopenia tubular adenocarcinoma urinary bladder cancer uterine corpus cancer uveal melanoma
P54803	Galactocerebrosidase	GALC	Homo sapiens (human)	6	5	Evans' syndrome Fabry disease Farber lipogranulomatosis Gaucher's disease Krabbe disease Niemann-Pick disease Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Wolman disease amblyopia autoimmune thrombocytopenic purpura bipolar disorder blindness bronchus cancer bronchus carcinoma cancer cerebellar ataxia cerebellar disease chronic obstructive pulmonary disease chylomicron retention disease communicating hydrocephalus congenital nystagmus demyelinating disease depressive disorder disease of metabolism dissociated nystagmus dysthymic disorder embryoma epilepsy glycogen storage disease II head and neck cancer head and neck squamous cell carcinoma hydrocephalus hypertropia inflammatory bowel disease laryngeal disease late onset Parkinson's disease leukodystrophy lipid storage disease low tension glaucoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lysosomal storage disease major depressive disorder mechanical strabismus melancholic depression metachromatic leukodystrophy multiple sclerosis nasopharynx carcinoma neurodegenerative disease neurotic disorder obsolete melancholia obstructive hydrocephalus ophthalmoplegia optic atrophy osteomalacia paraplegia pathologic nystagmus placental insufficiency primary open angle glaucoma relapsing fever rickets schizophrenia senile degeneration of brain sensorineural hearing loss sphingolipidosis spontaneous ocular nystagmus squamous cell carcinoma status epilepticus strabismic amblyopia strabismus systemic lupus erythematosus tongue squamous cell carcinoma tracheal disease visual epilepsy
Q9UL01	Dermatan-sulfate epimerase	DSE SART2	Homo sapiens (human)	6	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
O95340	Bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2	PAPSS2 ATPSK2	Homo sapiens (human)	0	1	Ehlers-Danlos syndrome Laron syndrome Marfan syndrome achondroplasia acne anovulation arthritis arthropathy brachyolmia diabetes mellitus diastrophic dysplasia hyperandrogenism hypertrichosis intellectual disability learning disability mucopolysaccharidosis IV multiple epiphyseal dysplasia osteoarthritis osteochondrodysplasia osteogenesis imperfecta polycystic ovary syndrome scoliosis situs inversus spondyloepimetaphyseal dysplasia, Pakistani type tuberous sclerosis type 2 diabetes mellitus
P22413	Ectonucleotide pyrophosphatase/phosphodiesterase family member 1	ENPP1 M6S1 NPPS PC1 PDNP1	Homo sapiens (human)	10	45	Ehlers-Danlos syndrome HCL-V Laron syndrome McCune Albright syndrome X-linked dominant hypophosphatemic rickets Zollinger-Ellison syndrome abdominal obesity-metabolic syndrome 1 achondroplasia acne acquired hyperkeratosis acute myocardial infarction adult astrocytic tumor allergic asthma amelogenesis imperfecta anaplastic astrocytoma anemia angioid streaks ankylosing spondylitis ankylosis aortic valve disease 1 aortic valve disease 2 aortic valve disease aortic valve stenosis arterial calcification of infancy arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy asthma atherosclerosis autosomal dominant hypophosphatemic rickets autosomal recessive hypophosphatemic rickets autosomal recessive osteopetrosis 7 bicuspid aortic valve disease bile duct adenocarcinoma bile duct cancer bile duct carcinoma bile duct disease blindness bone disease brain cancer breast cancer breast carcinoma bronchus cancer bronchus carcinoma calcinosis calcium metabolism disease cancer carcinoma cardiovascular system disease carotid artery disease cartilage disease cerebral infarction cerebrovascular disease childhood astrocytic tumor childhood cerebral astrocytoma cholangiocarcinoma chondrocalcinosis chronic kidney disease colorectal cancer colorectal carcinoma congenital hypothyroidism congenital toxoplasmosis congestive heart failure connective tissue disease coronary artery disease coronary thrombosis craniosynostosis diabetes mellitus diabetic ketoacidosis embryoma encephalitis encephalomyelitis endometriosis of ovary endometriosis of uterus endometriosis enthesopathy essential hypertension exanthem fibrillary astrocytoma gemistocytic astrocytoma gestational diabetes giant cell glioblastoma glioblastoma glomerulonephritis glucose intolerance hairy cell leukemia heart disease hepatitis C hepatocellular carcinoma hereditary elliptocytosis herpes simplex high grade glioma hypercalcemia hypercementosis hyperglycemia hyperinsulinism hyperphosphatemic familial tumoral calcinosis hypertension hypophosphatemia hypothyroidism insulinoma intermittent claudication intrinsic asthma juvenile pilocytic astrocytoma keratosis follicularis kidney disease kidney failure large intestine cancer linear nevus sebaceous syndrome liver cancer lung benign neoplasm lung cancer lung carcinoma macrocytic anemia malignant astrocytoma melanoma mitral valve insufficiency mitral valve prolapse mongolian spot monoclonal gammopathy of uncertain significance morbid obesity mucopolysaccharidosis IV multiple epiphyseal dysplasia multiple myeloma musculoskeletal system disease myelitis myocardial infarction myopia myxedema nephritis nephrocalcinosis nephrosis neurogenic arthropathy nodular prostate nonepidermolytic palmoplantar keratoderma nutmeg liver obesity obsolete type 1 diabetes mellitus 9 ossification of the posterior longitudinal ligament of spine osteoarthritis osteochondrodysplasia osteogenesis imperfecta osteomalacia osteopetrosis osteoporosis osteosclerosis otitis media palmoplantar keratosis pancreatic cancer pancreatic carcinoma periarthritis perinatal intestinal perforation peripheral artery disease peripheral vascular disease phosphorus metabolism disease pilocytic astrocytoma plasmacytoma pneumocystosis polycystic ovary syndrome polycythemia vera polycythemia postural orthostatic tachycardia syndrome pre-eclampsia prediabetes syndrome prostate cancer prostate carcinoma prostatic adenoma protoplasmic astrocytoma pseudoxanthoma elasticum pulmonary valve stenosis pyoureter restrictive cardiomyopathy retinal disease retinitis rheumatoid arthritis rickets sarcomatoid carcinoma scoliosis sensorineural hearing loss silent myocardial infarction skin melanoma spondyloarthropathy spondylosis steatotic liver disease subependymal giant cell astrocytoma suppurative periapical periodontitis tendinitis tropical sprue tympanosclerosis 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 uremia viral infectious disease
Q96L58	Beta-1,3-galactosyltransferase 6	B3GALT6	Homo sapiens (human)	2	7	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 tendinitis ventricular septal defect
Q8NCH0	Carbohydrate sulfotransferase 14	CHST14 D4ST1	Homo sapiens (human)	6	4	Ehlers-Danlos syndrome musculocontractural type 1 Ehlers-Danlos syndrome Marfan syndrome Peters anomaly agnosia arthropathy 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 brittle cornea syndrome 1 cleft palate clubfoot congenital diaphragmatic hernia cornea plana craniosynostosis cryptorchidism developmental coordination disorder distal arthrogryposis familial nephrotic syndrome familial periodic paralysis glaucoma hiatus hernia hydrocephalus hydronephrosis hypertropia isolated cleft palate lipoid nephrosis mechanical strabismus myopathy myopia nephrotic syndrome obsolete constipation omphalocele ophthalmoplegia osteogenesis imperfecta patent foramen ovale pneumothorax prostate cancer prostate carcinoma retinal detachment scoliosis sensorineural hearing loss situs inversus strabismus tuberous sclerosis umbilical hernia
Q02809	Procollagen-lysine,2-oxoglutarate 5-dioxygenase 1	PLOD1 LLH PLOD	Homo sapiens (human)	7	57	Ehlers-Danlos syndrome kyphoscoliotic type 1 brittle cornea syndrome 1
Q6UXB4	C-type lectin domain family 4 member G	CLEC4G	Homo sapiens (human)	2	0	Ebola hemorrhagic fever basal cell carcinoma breast cancer breast carcinoma hepatocellular carcinoma liver cancer
Q9BZZ2	Sialoadhesin	SIGLEC1 SN	Homo sapiens (human)	14	0	Ebola hemorrhagic fever Graves' disease Kaposi's sarcoma Marfan syndrome St. Louis encephalitis allergic asthma anemia arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease ascariasis ascaridiasis asthma atherosclerosis autoimmune disease autoimmune lymphoproliferative syndrome bladder carcinoma breast cancer breast carcinoma cancer childhood leukemia chronic fatigue syndrome colitis common cold congenital heart block coronary artery disease diabetes mellitus embryoma encephalitis encephalomyelitis endometrial cancer endometrial carcinoma esophageal cancer esophageal carcinoma gastroenteritis glomerulonephritis head and neck squamous cell carcinoma hepatitis B hepatitis C hyperthyroidism ileitis ileocolitis immune system disease influenza intrinsic asthma kidney disease leukemia liver cirrhosis lupus erythematosus macrocytic anemia melanoma multiple myeloma multiple sclerosis myelitis nephritis nephrosis nutmeg liver prostate cancer prostate carcinoma pulmonary tuberculosis pyoureter respiratory syncytial virus infectious disease rheumatoid arthritis scleroderma situs inversus skin melanoma steatotic liver disease systemic lupus erythematosus systemic scleroderma thyrotoxicosis tuberculosis tuberculous pneumothorax tuberous sclerosis type 2 diabetes mellitus urinary bladder cancer viral infectious disease
Q3T906	N-acetylglucosamine-1-phosphotransferase subunits alpha/beta	GNPTAB GNPTA KIAA1208	Homo sapiens (human)	42	24	Ebola hemorrhagic fever Fabry disease Laron syndrome Legg-Calve-Perthes disease Scheuermann's disease achondroplasia alexia anemia aortic valve insufficiency arrhythmogenic right ventricular cardiomyopathy autistic disorder cancer capillary hemangioma cardiomyopathy cavernous hemangioma chromophobe renal cell carcinoma chylomicron retention disease clear cell renal cell carcinoma clubfoot collecting duct carcinoma congenital central hypoventilation syndrome congestive heart failure corneal dystrophy craniosynostosis disease of metabolism dyslexia embryoma endomyocardial fibrosis enterocele familial hypertrophic cardiomyopathy glycoproteinosis hemangioma hypertrophic cardiomyopathy inguinal hernia intellectual disability keratosis follicularis learning disability lipid storage disease lysosomal storage disease macrocytic anemia megalocornea mixed sleep apnea mongolian spot mucolipidosis II alpha/beta mucolipidosis III alpha/beta mucopolysaccharidosis I mucopolysaccharidosis II mucopolysaccharidosis III mucopolysaccharidosis IV mucopolysaccharidosis Ih mucopolysaccharidosis VI mucopolysaccharidosis multiple epiphyseal dysplasia nonpapillary renal cell carcinoma obstructive sleep apnea omphalocele osteochondrodysplasia papillary renal cell carcinoma pseudoxanthoma elasticum renal carcinoma renal cell carcinoma retinal degeneration retinal disease retinitis sarcomatoid renal cell carcinoma scoliosis sleep apnea spinal cord disease stuttering syringomyelia umbilical hernia
Q9UBF8	Phosphatidylinositol 4-kinase beta	PI4KB PIK4CB	Homo sapiens (human)	0	1	EAST syndrome hepatitis C severe acute respiratory syndrome
P11532	Dystrophin	DMD	Homo sapiens (human)	6	3	Duchenne muscular dystrophy
Q9P2X0	Dolichol-phosphate mannosyltransferase subunit 3	DPM3	Homo sapiens (human)	2	2	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 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
Q8NHY0	Beta-1,4 N-acetylgalactosaminyltransferase 2	B4GALNT2 GALGT2	Homo sapiens (human)	0	1	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 campomelic dysplasia cancer carcinoma cerebrotendinous xanthomatosis congenital muscular dystrophy coronary artery disease distal myopathy embryoma facioscapulohumeral muscular dystrophy limb-girdle muscular dystrophy 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 sarcomatoid carcinoma

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