GlyCosmos Portal

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UniProt ID	Protein Name	Gene Symbol	No. of Glycosylation Sites	No. of GlyTouCan IDs	Disease Ontology ▲
O75795	UDP-glucuronosyltransferase 2B17	UGT2B17	3	0	Barrett's esophagus Graves' disease Richter's syndrome adenocarcinoma adenoma age related macular degeneration ankylosing spondylitis breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer chronic lymphocytic leukemia colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma cribriform carcinoma degeneration of macula and posterior pole embryoma endometrial cancer endometrial carcinoma esophagus adenocarcinoma esophagus squamous cell carcinoma glomerulonephritis granular cell carcinoma head and neck squamous cell carcinoma hematologic cancer hyperthyroidism kidney disease kidney failure large intestine cancer lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma macular degeneration nasopharynx carcinoma nephritis nephrosis nodular prostate osteoporosis primary cutaneous amyloidosis prostate cancer prostate carcinoma prostatic adenoma pyoureter substance abuse substance-related disorder thyrotoxicosis tubular adenocarcinoma uterine corpus cancer
P13598	Intercellular adhesion molecule 2	ICAM2	8	28	Barrett's esophagus Hantavirus hemorrhagic fever with renal syndrome abdominal aortic aneurysm acquired immunodeficiency syndrome benign mesothelioma bronchus cancer bronchus carcinoma cancer embryoma esophageal cancer esophageal carcinoma human immunodeficiency virus infectious disease inflammatory bowel disease 1 inflammatory bowel disease interstitial lung disease lepromatous leprosy lung benign neoplasm lung cancer lung carcinoma malignant mesothelioma neuroblastoma pancreatic cancer pancreatic carcinoma pterygium scleroderma stomach cancer stomach carcinoma systemic scleroderma tuberculoid leprosy ulcerative colitis
Q96SL4	Glutathione peroxidase 7	GPX7 GPX6	0	1	Barrett's esophagus Huntington's disease-like 1 Huntington's disease-like 2 Huntington's disease amyotrophic lateral sclerosis breast cancer breast carcinoma bronchiolo-alveolar adenocarcinoma cancer embryoma esophagus adenocarcinoma hyperhomocysteinemia lung cancer progressive muscular atrophy
P19971	Thymidine phosphorylase	TYMP ECGF1	1	1	Barrett's esophagus Kallmann syndrome Leigh disease Sheehan syndrome adenocarcinoma adenoma anaplastic astrocytoma arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis basal cell carcinoma benign mesothelioma bladder carcinoma breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma cardiovascular system disease central nervous system cancer cervical cancer cervix carcinoma childhood cerebral astrocytoma chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma congenital ptosis coronary artery disease cribriform carcinoma diabetes mellitus diarrhea embryoma endometrial cancer endometrial carcinoma endometriosis of ovary endometriosis esophagus adenocarcinoma esophagus squamous cell carcinoma fibrillary astrocytoma gallbladder cancer gallbladder carcinoma gastrointestinal system cancer gemistocytic astrocytoma giant cell glioblastoma glioblastoma gliosarcoma granular cell carcinoma head and neck squamous cell carcinoma heart disease hepatic veno-occlusive disease hepatocellular carcinoma high grade glioma hypogonadism hypogonadotropic hypogonadism 1 with or without anosmia hypogonadotropic hypogonadism 10 with or without anosmia hypogonadotropic hypogonadism 11 with or without anosmia hypogonadotropic hypogonadism 12 with or without anosmia hypogonadotropic hypogonadism 13 with or without anosmia hypogonadotropic hypogonadism 14 with or without anosmia hypogonadotropic hypogonadism 16 with or without anosmia hypogonadotropic hypogonadism 17 with or without anosmia hypogonadotropic hypogonadism 18 with or without anosmia hypogonadotropic hypogonadism 19 with or without anosmia hypogonadotropic hypogonadism 2 with or without anosmia hypogonadotropic hypogonadism 20 with or without anosmia hypogonadotropic hypogonadism 21 with or without anosmia hypogonadotropic hypogonadism 22 with or without anosmia hypogonadotropic hypogonadism 3 with or without anosmia hypogonadotropic hypogonadism 4 with or without anosmia hypogonadotropic hypogonadism 5 with or without anosmia hypogonadotropic hypogonadism 6 with or without anosmia hypogonadotropic hypogonadism 7 with or without anosmia hypogonadotropic hypogonadism 8 with or without anosmia hypogonadotropic hypogonadism 9 with or without anosmia hypogonadotropic hypogonadism hypopituitarism inherited metabolic disorder intellectual disability isolated growth hormone deficiency type IA isolated growth hormone deficiency type IB isolated growth hormone deficiency type II isolated growth hormone deficiency type III isolated growth hormone deficiency juvenile pilocytic astrocytoma kwashiorkor large intestine cancer learning disability leukodystrophy liver cancer liver cirrhosis lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma malignant astrocytoma malignant mesothelioma marasmus mitochondrial DNA depletion syndrome 1 mitochondrial DNA depletion syndrome 4b mitochondrial DNA depletion syndrome 5 mitochondrial DNA depletion syndrome 8a mitochondrial DNA depletion syndrome 8b mitochondrial metabolism disease mitochondrial myopathy mixed glioma multiple myeloma nasopharynx carcinoma neuroblastoma neuropathy nonpapillary renal cell carcinoma nutrition disease ophthalmoplegia oropharynx cancer ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma panhypopituitarism papillary adenocarcinoma papillary renal cell carcinoma paraganglioma peripheral nervous system disease peritoneal carcinoma pilocytic astrocytoma polyneuropathy prostate cancer prostate carcinoma protein-energy malnutrition protoplasmic astrocytoma ptosis rectal benign neoplasm rectum adenocarcinoma rectum cancer renal carcinoma renal cell carcinoma rheumatoid arthritis sarcomatoid carcinoma sarcomatoid renal cell carcinoma serous cystadenocarcinoma squamous cell carcinoma stomach cancer stomach carcinoma subependymal giant cell astrocytoma thyroid gland medullary carcinoma thyroid gland papillary carcinoma tongue squamous cell carcinoma tropical sprue tubular adenocarcinoma type 2 diabetes mellitus urinary bladder cancer uterine corpus cancer
P61803	Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit DAD1	DAD1	0	1	Barrett's esophagus allergic asthma asthma cancer embryoma intrinsic asthma lung small cell carcinoma neuroendocrine carcinoma neuroendocrine tumor
Q9NPZ5	Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 2	B3GAT2 GLCATS KIAA1963	2	0	Barrett's esophagus schizophrenia thrombophilia
P40939	Trifunctional enzyme subunit alpha, mitochondrial	HADHA HADH	4	4	Barth syndrome HELLP syndrome Norum disease Reye syndrome Tangier disease X-linked dilated cardiomyopathy abetalipoproteinemia acquired immunodeficiency syndrome adult respiratory distress syndrome agnosia alpha 1-antitrypsin deficiency alternating exotropia amyotrophic lateral sclerosis arthritis arthropathy blindness breast cancer bronchus cancer bronchus carcinoma cancer cardiomyopathy carnitine palmitoyltransferase II deficiency cerebral infarction cerebrovascular disease cholestasis choreaacanthocytosis clubfoot cone-rod dystrophy congenital adrenal hyperplasia congenital stationary night blindness 1A congenital stationary night blindness congestive heart failure coronary artery disease cystinuria cytochrome-c oxidase deficiency disease developmental coordination disorder diabetes mellitus dilated cardiomyopathy 1AA dilated cardiomyopathy 1B dilated cardiomyopathy 1BB dilated cardiomyopathy 1C dilated cardiomyopathy 1CC dilated cardiomyopathy 1D dilated cardiomyopathy 1DD dilated cardiomyopathy 1E dilated cardiomyopathy 1EE dilated cardiomyopathy 1FF dilated cardiomyopathy 1G dilated cardiomyopathy 1GG dilated cardiomyopathy 1H dilated cardiomyopathy 1HH dilated cardiomyopathy 1I dilated cardiomyopathy 1II dilated cardiomyopathy 1JJ dilated cardiomyopathy 1K dilated cardiomyopathy 1KK dilated cardiomyopathy 1L dilated cardiomyopathy 1M dilated cardiomyopathy 1NN dilated cardiomyopathy 1O dilated cardiomyopathy 1P dilated cardiomyopathy 1Q dilated cardiomyopathy 1R dilated cardiomyopathy 1S dilated cardiomyopathy 1T dilated cardiomyopathy 1U dilated cardiomyopathy 1V dilated cardiomyopathy 1W dilated cardiomyopathy 1X dilated cardiomyopathy 1Y dilated cardiomyopathy 1Z dilated cardiomyopathy 2A dilated cardiomyopathy 2B dilated cardiomyopathy disease of metabolism endomyocardial fibrosis epilepsy exotropia familial hypertrophic cardiomyopathy familial periodic paralysis fibromyalgia fundus albipunctatus 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 hemophagocytic lymphohistiocytosis hepatitis C human immunodeficiency virus infectious disease hypercalcemia hypertrophic cardiomyopathy hypoglycemia hypolipoproteinemia hypoparathyroidism inflammatory bowel disease inherited metabolic disorder intellectual disability lactic acidosis learning disability liver disease lung benign neoplasm lung cancer lung carcinoma metabolic dysfunction-associated steatotic liver disease mitochondrial trifunctional protein deficiency mitral valve insufficiency mitral valve prolapse monocular exotropia myoglobinuria myopathy myopia myositis nephrocalcinosis neuropathy newborn respiratory distress syndrome night blindness obesity obsolete asthenopia osteoarthritis peripheral nervous system disease phosphorus metabolism disease placental insufficiency polyneuropathy pre-eclampsia progressive muscular atrophy prostate cancer prostate carcinoma prostatitis pseudohypoparathyroidism pseudosarcomatous fibromatosis retinal disease retinitis pigmentosa retinitis sick sinus syndrome staphyloma posticum steatotic liver disease sudden infant death syndrome tricuspid valve insufficiency type 2 diabetes mellitus urea cycle disorder visual epilepsy von Willebrand's disease 2 von Willebrand's disease
Q01968	Inositol polyphosphate 5-phosphatase OCRL	OCRL OCRL1	1	1	Bartter disease Conn's syndrome Dent disease Ehlers-Danlos syndrome Fanconi anemia Fanconi syndrome Laron syndrome Waterhouse-Friderichsen syndrome achondroplasia amblyopia anemia angular cheilitis anxiety disorder arthritis arthropathy attention deficit hyperactivity disorder autistic disorder autoimmune hemolytic anemia azoospermia blindness buphthalmos calcinosis calcium metabolism disease cataract 1 multiple types cataract 10 multiple types cataract 11 multiple types cataract 12 multiple types cataract 13 with adult i phenotype cataract 14 multiple types cataract 15 multiple types cataract 16 multiple types cataract 17 multiple types cataract 18 cataract 19 multiple types cataract 2 multiple types cataract 20 multiple types cataract 21 multiple types cataract 22 multiple types cataract 23 cataract 24 cataract 25 cataract 26 multiple types cataract 27 cataract 29 cataract 3 multiple types cataract 30 cataract 31 multiple types cataract 32 multiple types cataract 33 cataract 34 multiple types cataract 35 cataract 37 cataract 38 cataract 39 multiple types cataract 4 multiple types cataract 40 cataract 41 cataract 42 cataract 43 cataract 44 cataract 45 cataract 46 juvenile-onset cataract 5 multiple types cataract 6 multiple types cataract 7 cataract 8 multiple types cataract 9 multiple types cataract cheilitis chromosome 17p13.1 deletion syndrome chronic kidney disease chronic ulcer of skin congenital nystagmus cryptorchidism cystinosis dental caries dental enamel hypoplasia dentin caries depressive disorder diabetes insipidus dissociated nystagmus dysthymic disorder epilepsy esophagitis fetal erythroblastosis gastroesophageal reflux disease generalized anxiety disorder giant cell glioblastoma gingivitis glaucoma glioblastoma glomerulonephritis high grade glioma hydrocephalus hydrophthalmos hypercalcemia hyperparathyroidism hypertropia hypokalemia hypophosphatemia inguinal hernia intellectual disability isolated elevated serum creatine phosphokinase levels kidney failure learning disability lip disease lissencephaly listeriosis macrocytic anemia major depressive disorder mechanical strabismus melancholic depression microphthalmia neonatal anemia nephritis nephrocalcinosis nephrolithiasis neurohypophyseal diabetes insipidus neurotic disorder obsolete constipation obsolete melancholia oculocerebrorenal syndrome omphalocele ophthalmoplegia osteitis fibrosa osteoarthritis osteogenesis imperfecta osteomalacia otitis media pathologic nystagmus peptic esophagitis periodontitis phosphorus metabolism disease primary hyperaldosteronism proteinuria recurrent corneal erosion renal tubular acidosis rickets scoliosis skin benign neoplasm skin cancer spondyloepimetaphyseal dysplasia, Sponastrime type spontaneous ocular nystagmus stereotypic movement disorder strabismic amblyopia strabismus subcortical band heterotopia thrombocytopenia trichohepatoenteric syndrome 1 trichohepatoenteric syndrome tropical sprue umbilical hernia uremia uric acid nephrolithiasis visual epilepsy
P13866	Sodium/glucose cotransporter 1	SLC5A1 NAGT SGLT1	4	6	Bartter disease Conn's syndrome Fanconi syndrome Waterhouse-Friderichsen syndrome X-linked juvenile retinoschisis 1 abdominal obesity-metabolic syndrome 1 acute myocardial infarction adenocarcinoma adenoma arteriosclerotic cardiovascular disease atherosclerosis bacterial infectious disease bacterial sepsis brain stem infarction breast cancer breast carcinoma calcinosis calcium metabolism disease cancer cardiomyopathy cardiovascular system disease cerebral artery occlusion cerebral infarction cerebrovascular disease cholera colon adenocarcinoma congestive heart failure coronary artery disease coronary thrombosis cribriform carcinoma cutaneous leishmaniasis cystinosis diabetes mellitus diabetic ketoacidosis diarrhea dilated cardiomyopathy 1A dilated cardiomyopathy disease of metabolism embryoma endomyocardial fibrosis essential hypertension familial hypertrophic cardiomyopathy galactosemia glomerulonephritis glucose intolerance granular cell carcinoma heart disease hepatocellular carcinoma hypercalcemia hyperglycemia hypertension hypertrophic cardiomyopathy hypoglycemia intestinal atresia kidney disease kidney failure kwashiorkor lactic acidosis listeriosis liver cancer lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma marasmus middle cerebral artery infarction myocardial infarction nephritis nephrocalcinosis nephrosis nutmeg liver nutrition disease obesity obsolete type 1 diabetes mellitus 9 optic atrophy 1 optic atrophy pancreatic cancer pancreatic carcinoma phosphorus metabolism disease pneumonia prediabetes syndrome primary hyperaldosteronism protein-energy malnutrition pyoureter renal glycosuria silent myocardial infarction squamous cell carcinoma tongue squamous cell carcinoma toxic shock syndrome tropical sprue tubular adenocarcinoma type 1 diabetes mellitus 10 type 1 diabetes mellitus 11 type 1 diabetes mellitus 12 type 1 diabetes mellitus 13 type 1 diabetes mellitus 15 type 1 diabetes mellitus 17 type 1 diabetes mellitus 18 type 1 diabetes mellitus 19 type 1 diabetes mellitus 20 type 1 diabetes mellitus 21 type 1 diabetes mellitus 22 type 1 diabetes mellitus 23 type 1 diabetes mellitus 24 type 1 diabetes mellitus 2 type 1 diabetes mellitus 3 type 1 diabetes mellitus 4 type 1 diabetes mellitus 5 type 1 diabetes mellitus 6 type 1 diabetes mellitus 7 type 1 diabetes mellitus 8 type 1 diabetes mellitus type 2 diabetes mellitus
P26439	3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2	HSD3B2 HSDB3B	1	1	Bartter disease Conn's syndrome Sertoli cell-only syndrome Waterhouse-Friderichsen syndrome X-linked spermatogenic failure 1 acne adrenal adenoma adrenal cortex cancer adrenal gland hyperfunction autoimmune hepatitis bipolar disorder bladder carcinoma congenital adrenal hyperplasia cryptorchidism delusional disorder depressive disorder disorder of sexual development endometrial cancer endometrial carcinoma endometriosis of uterus endometriosis essential hypertension gynecomastia hepatitis hepatocellular carcinoma hermaphroditism hyperandrogenism hyperprolactinemia hypertension hypertrichosis hypertrophy of breast hypogonadotropic hypogonadism 23 with or without anosmia hypospadias infant gynecomastia lactic acidosis liver cancer major depressive disorder melancholic depression obsolete Cushing's syndrome obsolete melancholia osteoporosis paranoid schizophrenia polycystic ovary syndrome pre-eclampsia primary hyperaldosteronism prostate cancer prostate carcinoma pseudohermaphroditism urinary bladder cancer uterine corpus cancer
P14060	3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 1	HSD3B1 3BH HSDB3A	0	1	Bartter disease Conn's syndrome Waterhouse-Friderichsen syndrome acne adenocarcinoma adenoma adrenal gland hyperfunction alopecia aortic valve insufficiency bladder carcinoma breast cancer breast carcinoma cancer carcinoma choriocarcinoma congenital adrenal hyperplasia congenital hypothyroidism diabetes mellitus diabetic ketoacidosis disorder of sexual development endometrial cancer endometrial carcinoma endometriosis of uterus endometriosis essential hypertension follicular adenoma hermaphroditism hyperprolactinemia hypertension hypogonadism hypothyroidism kwashiorkor lesion of sciatic nerve marasmus microcystic adenoma myxedema nutrition disease obsolete Cushing's syndrome papillary adenoma placenta cancer polycystic ovary syndrome pre-eclampsia primary cutaneous amyloidosis primary hyperaldosteronism prostate cancer prostate carcinoma protein-energy malnutrition pseudohermaphroditism sarcomatoid carcinoma sciatic neuropathy stomach cancer stomach carcinoma trophoblastic neoplasm type 2 diabetes mellitus urinary bladder cancer uterine corpus cancer
Q16651	Prostasin	PRSS8	2	1	Bartter disease Conn's syndrome Waterhouse-Friderichsen syndrome actinic keratosis autosomal recessive congenital ichthyosis 4B bladder carcinoma bladder urothelial carcinoma breast cancer breast carcinoma cancer central nervous system cancer cholera chromophobe renal cell carcinoma clear cell renal cell carcinoma colitis collecting duct carcinoma cystic fibrosis diabetes mellitus diabetic ketoacidosis embryoma esophagus squamous cell carcinoma essential hypertension gastroenteritis gliosarcoma hepatocellular carcinoma high grade glioma hypertension ileitis ileocolitis influenza intestinal benign neoplasm intestinal cancer liver cancer lung cancer lung non-small cell carcinoma mixed glioma obsolete congenital ichthyosiform erythroderma ovarian cancer ovarian carcinoma oxyphilic adenoma papillary renal cell carcinoma placenta disease primary hyperaldosteronism prostate cancer prostate carcinoma renal carcinoma renal cell carcinoma renal oncocytoma sarcomatoid renal cell carcinoma seborrheic keratosis skin disease tarsal-carpal coalition syndrome type 2 diabetes mellitus urinary bladder cancer
P10253	Lysosomal alpha-glucosidase	GAA	20	85	Becker muscular dystrophy Clouston syndrome Duchenne muscular dystrophy Fabry disease Friedreich ataxia 1 Friedreich ataxia aortic aneurysm ataxia telangiectasia 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 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 cancer cardiomyopathy cerebellar ataxia cerebellar disease chylomicron retention disease cystinuria cytochrome-c oxidase deficiency disease diaphragm disease disease of metabolism distal myopathy endomyocardial fibrosis facioscapulohumeral muscular dystrophy familial hypertrophic cardiomyopathy familial periodic paralysis galactosemia 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 hypertrophic cardiomyopathy isolated elevated serum creatine phosphokinase levels limb-girdle muscular dystrophy lipid storage disease lysosomal storage disease membranous glomerulonephritis mitochondrial metabolism disease mitochondrial myopathy muscular dystrophy myopathy neurodegenerative disease neuromuscular disease 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 foramen ovale peroxisome biogenesis disorder 7A primary immunodeficiency disease sensorineural hearing loss thyroid gland anaplastic carcinoma
P09326	CD48 antigen	CD48 BCM1 BLAST1	7	14	Beckwith-Wiedemann syndrome CLOVES syndrome Castleman disease Fanconi anemia complementation group A Fanconi anemia Kimura disease Lyme disease Perlman syndrome Sotos syndrome St. Louis encephalitis West Nile fever X-linked cone-rod dystrophy 1 Zika fever acute lymphoblastic leukemia acute myeloid leukemia adult acute lymphocytic leukemia adult lymphoma allergic asthma aplastic anemia asthma atopic dermatitis autoimmune hemolytic anemia autoimmune lymphoproliferative syndrome brain cancer cancer celiac disease central nervous system cancer central nervous system lymphoma childhood acute lymphocytic leukemia childhood leukemia childhood lymphoma chronic fatigue syndrome cone-rod dystrophy dermatitis diabetes mellitus diabetic ketoacidosis embryoma encephalitis encephalomyelitis endometriosis of uterus endometriosis essential thrombocythemia gliosarcoma glomerulonephritis high grade glioma influenza intrinsic asthma kidney disease leukemia lupus erythematosus lymphoma mixed glioma multiple myeloma multiple sclerosis myelitis myelodysplastic syndrome nephritis obesity obsolete type 1 diabetes mellitus 9 obsolete ymphosarcoma pancytopenia paroxysmal nocturnal hemoglobinuria prostate cancer prostate carcinoma rheumatoid arthritis schizophrenia shigellosis systemic lupus erythematosus tetralogy of Fallot tick-borne encephalitis 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 viral infectious disease
P51654	Glypican-3	GPC3 OCI5	6	11	Beckwith-Wiedemann syndrome CLOVES syndrome Crouzon syndrome Dandy-Walker syndrome Laron syndrome Marfan syndrome Meckel syndrome Meckel's diverticulum Perlman syndrome Proteus syndrome Simpson-Golabi-Behmel syndrome type 1 Sotos syndrome achondroplasia adenocarcinoma adenoid cystic carcinoma adenoma adenosarcoma adult endodermal sinus tumor adult hepatocellular carcinoma adult medulloblastoma alcoholic liver cirrhosis ameloblastoma aniridia arthritis 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 atypical teratoid rhabdoid tumor autoimmune disease autoimmune lymphoproliferative syndrome autosomal dominant polycystic kidney disease basal cell carcinoma benign mesothelioma bile duct adenocarcinoma bile duct carcinoma breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma cardiomyopathy cervical adenocarcinoma cervical cancer cervix carcinoma childhood germ cell cancer childhood hepatocellular carcinoma childhood medulloblastoma cholangiocarcinoma chondrosarcoma chromophobe renal cell carcinoma clear cell adenocarcinoma clear cell renal cell carcinoma cleft lip cleft palate clubfoot collecting duct carcinoma colorectal cancer colorectal carcinoma communicating hydrocephalus congenital diaphragmatic hernia congenital generalized lipodystrophy type 1 congenital generalized lipodystrophy type 2 congenital generalized lipodystrophy type 3 congenital generalized lipodystrophy type 4 congenital mesoblastic nephroma craniosynostosis cribriform carcinoma cryptorchidism cutaneous fibrous histiocytoma cystic kidney disease dextro-looped transposition of the great arteries distal arthrogryposis double outlet right ventricle early infantile epileptic encephalopathy embryoma embryonal cancer endodermal sinus tumor endometrial cancer endometrial carcinoma endometrial clear cell adenocarcinoma endomyocardial fibrosis epilepsy epithelioid sarcoma essential hypertension familial nephrotic syndrome follicular adenoma gallbladder cancer gallbladder carcinoma gallbladder disease germ cell and embryonal cancer germ cell cancer germinoma granular cell carcinoma hemochromatosis type 1 hemochromatosis hepatitis A hepatitis B hepatitis C hepatitis hepatoblastoma hepatocellular carcinoma hidradenoma hydrocephalus hydronephrosis hypertension hypertrophic cardiomyopathy hypoglycemia immune system disease inguinal hernia intellectual disability intrahepatic cholangiocarcinoma isolated cleft palate large intestine cancer learning disability lipoatrophic diabetes mellitus lipodystrophy lipoid nephrosis liver cancer liver carcinoma liver cirrhosis liver disease lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lung squamous cell carcinoma malignant mesothelioma medulloblastoma medullomyoblastoma melanoma melanotic medulloblastoma microcystic adenoma mucinous adenocarcinoma multiple types of congenital heart defects 6 nephroblastoma nephrotic syndrome type 1 nephrotic syndrome neuroblastoma neuroendocrine carcinoma nevoid basal cell carcinoma syndrome non-congenital cyst of kidney nonpapillary renal cell carcinoma nonsyndromic congenital nail disorder 9 obsolete Opitz-GBBB syndrome obsolete dextro-looped transposition of the great arteries 1 obsolete mesoblastic nephroma obstructive hydrocephalus omphalocele osteoarthritis ovarian cancer ovarian carcinoma ovarian embryonal carcinoma pancreatic cancer pancreatic carcinoma papillary adenocarcinoma papillary adenoma papillary carcinoma papillary renal cell carcinoma patent ductus arteriosus patent foramen ovale placental insufficiency polydactyly polyhydramnios primary immunodeficiency disease prostate cancer prostate carcinoma renal agenesis renal carcinoma renal cell carcinoma rhabdoid cancer rhabdomyosarcoma salivary gland adenoid cystic carcinoma sarcoma sarcomatoid carcinoma sarcomatoid renal cell carcinoma scoliosis sebaceous carcinoma seminoma senile degeneration of brain sensorineural hearing loss sick sinus syndrome situs inversus skin benign neoplasm skin cancer skin melanoma skin papilloma skin tag speech disorder spindle cell sarcoma squamous cell carcinoma steatotic liver disease stomach cancer stomach carcinoma sweat gland cancer syringoma testicular cancer testicular germ cell cancer thyroid adenoma thyroid cancer thyroid gland carcinoma thyroid gland follicular carcinoma thyroid gland papillary carcinoma tongue squamous cell carcinoma tuberous sclerosis tubular adenocarcinoma umbilical hernia uterine corpus cancer ventricular septal defect viral infectious disease visual epilepsy
O95196	Chondroitin sulfate proteoglycan 5	CSPG5 CALEB NGC	9	5	Beckwith-Wiedemann syndrome CLOVES syndrome Japanese encephalitis Perlman syndrome Sotos syndrome dengue disease schizophrenia viral infectious disease yellow fever
Q10981	Galactoside alpha-(1,2)-fucosyltransferase 2	FUT2 SEC2	3	0	Behcet's disease Crohn's colitis Crohn's disease Graves' disease Marfan syndrome acquired immunodeficiency syndrome acute pancreatitis allergic asthma anemia ankylosing spondylitis arthritis arthropathy ascending cholangitis asthma autoimmune disease autoimmune lymphoproliferative syndrome autoimmune thyroiditis bile duct adenocarcinoma bile duct carcinoma breast cancer breast carcinoma bronchiolitis bronchus cancer bronchus carcinoma cancer candidiasis cardiovascular system disease celiac disease cholangiocarcinoma cholangitis colitis colon adenocarcinoma colon carcinoma colonic disease colorectal cancer colorectal carcinoma common variable immunodeficiency cystic fibrosis dermatitis diabetes mellitus diabetic ketoacidosis diarrhea embryoma gallbladder disease gastritis gastroduodenal Crohn's disease gastroenteritis heart disease hemochromatosis type 1 hemochromatosis hepatocellular carcinoma human immunodeficiency virus infectious disease hyperthyroidism ileitis ileocolitis immune system disease immunoglobulin alpha deficiency inflammatory bowel disease 1 inflammatory bowel disease influenza intrahepatic cholangiocarcinoma intrinsic asthma jejunoileitis juvenile rheumatoid arthritis lactose intolerance large intestine cancer leech infestation liver cancer liver disease lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma macrocytic anemia melanoma myiasis obsolete type 1 diabetes mellitus 9 oral candidiasis osteoarthritis otitis media pancreatic cancer pancreatitis parapsoriasis pneumonia primary sclerosing cholangitis psoriasis pustulosis of palm and sole rabies sclerosing cholangitis selective IgA deficiency disease situs inversus skin melanoma status epilepticus stomach cancer stomach carcinoma sudden infant death syndrome suppurative cholangitis systemic lupus erythematosus thyrotoxicosis toxic shock syndrome toxoplasmosis tuberculosis tuberous sclerosis 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 viral infectious disease
Q9Y6M0	Testisin	PRSS21 ESP1 TEST1	3	4	Behcet's disease Down syndrome acquired immunodeficiency syndrome alcohol dependence alcohol use disorder atrial fibrillation cancer cerebral infarction cerebrovascular disease cervical adenocarcinoma cervical cancer cervix carcinoma childhood germ cell cancer diabetes mellitus diabetic ketoacidosis disorder of sexual development embryonal cancer germ cell and embryonal cancer germ cell cancer germinoma hepatitis B hermaphroditism human immunodeficiency virus infectious disease monoclonal gammopathy of uncertain significance monoclonal paraproteinemia ovarian cancer ovarian carcinoma plasma cell neoplasm pseudohermaphroditism type 2 diabetes mellitus
Q13241	Natural killer cells antigen CD94	KLRD1 CD94	2	0	Behcet's disease Evans' syndrome Peutz-Jeghers syndrome acquired immunodeficiency syndrome acute myeloid leukemia acute promyelocytic leukemia adult lymphoma allergic asthma asthma autoimmune disease autoimmune lymphoproliferative syndrome type 2A autoimmune lymphoproliferative syndrome type 2B autoimmune lymphoproliferative syndrome type 3 autoimmune lymphoproliferative syndrome autoimmune thrombocytopenic purpura bacterial infectious disease cancer central nervous system lymphoma cervix uteri carcinoma in situ chikungunya childhood lymphoma chronic NK-cell lymphocytosis common wart dengue hemorrhagic fever diabetic ketoacidosis embryoma enthesopathy fibromyalgia hepatitis B hepatitis C hepatocellular carcinoma human immunodeficiency virus infectious disease idiopathic scoliosis immune system disease infectious mononucleosis influenza intrinsic asthma liver cancer lung cancer lung non-small cell carcinoma lymphoma lymphoproliferative syndrome 1 lymphoproliferative syndrome 2 multiple sclerosis obsolete malignant histiocytosis obsolete type 1 diabetes mellitus 9 obsolete ymphosarcoma primary immunodeficiency disease rheumatoid arthritis systemic Epstein-Barr virus positive T-cell lymphoma of childhood systemic lupus erythematosus tropical spastic paraparesis 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 von Hippel-Lindau disease
O94779	Contactin-5	CNTN5	9	0	Behcet's disease Hirschsprung's disease Parkinson's disease 2 anorexia nervosa atrial fibrillation attention deficit hyperactivity disorder autism spectrum disorder autistic disorder bipolar disorder communicating hydrocephalus congestive heart failure depressive disorder differentiated thyroid gland carcinoma essential hypertension gout hydrocephalus hypertension major depressive disorder melancholic depression neurotic disorder obsolete melancholia obstructive hydrocephalus primary biliary cholangitis schizophrenia senile degeneration of brain
Q99999	Galactosylceramide sulfotransferase	GAL3ST1 CST	5	17	Behcet's disease Marfan syndrome Papillon-Lefevre disease acute myocardial infarction adenocarcinoma adenoma amyotrophic lateral sclerosis anhidrosis anterior horn cell disease arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy atherosclerosis brain stem infarction breast cancer breast carcinoma cancer cardiovascular system disease central nervous system cancer cerebral artery occlusion cerebral infarction cerebrovascular disease chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma cone-rod dystrophy 2 cone-rod dystrophy congestive heart failure coronary artery disease coronary thrombosis cribriform carcinoma diabetes mellitus diabetic ketoacidosis diabetic macular edema embryoma episodic kinesigenic dyskinesia 1 essential hypertension gliosarcoma granular cell carcinoma heart disease hepatitis B hepatocellular carcinoma high grade glioma hyperglycemia hypertension hypohidrosis immune system disease inflammatory bowel disease 1 inflammatory bowel disease influenza invasive ductal carcinoma lateral sclerosis liver cancer mixed glioma motor neuron disease myocardial infarction myotonic dystrophy type 2 nonpapillary renal cell carcinoma obesity obsolete type 1 diabetes mellitus 9 osteoarthritis papillary renal cell carcinoma progressive bulbar palsy progressive muscular atrophy renal carcinoma renal cell carcinoma sarcomatoid renal cell carcinoma silent myocardial infarction situs inversus stomach cancer stomach carcinoma substance abuse substance-related disorder tuberous sclerosis tubular adenocarcinoma type 1 diabetes mellitus 10 type 1 diabetes mellitus 11 type 1 diabetes mellitus 12 type 1 diabetes mellitus 13 type 1 diabetes mellitus 15 type 1 diabetes mellitus 17 type 1 diabetes mellitus 18 type 1 diabetes mellitus 19 type 1 diabetes mellitus 20 type 1 diabetes mellitus 21 type 1 diabetes mellitus 22 type 1 diabetes mellitus 23 type 1 diabetes mellitus 24 type 1 diabetes mellitus 2 type 1 diabetes mellitus 3 type 1 diabetes mellitus 4 type 1 diabetes mellitus 5 type 1 diabetes mellitus 6 type 1 diabetes mellitus 7 type 1 diabetes mellitus 8 type 1 diabetes mellitus type 2 diabetes mellitus ulcerative colitis
P53396	ATP-citrate synthase	ACLY	5	2	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
Q13614	Myotubularin-related protein 2	MTMR2 KIAA1073	0	1	Bell's palsy Charcot-Marie-Tooth disease X-linked dominant 1 Charcot-Marie-Tooth disease X-linked dominant 6 Charcot-Marie-Tooth disease X-linked recessive 2 Charcot-Marie-Tooth disease X-linked recessive 3 Charcot-Marie-Tooth disease X-linked recessive 4 Charcot-Marie-Tooth disease X-linked recessive 5 Charcot-Marie-Tooth disease axonal type 2C Charcot-Marie-Tooth disease axonal type 2F Charcot-Marie-Tooth disease axonal type 2H Charcot-Marie-Tooth disease axonal type 2K Charcot-Marie-Tooth disease axonal type 2L Charcot-Marie-Tooth disease axonal type 2N Charcot-Marie-Tooth disease axonal type 2O Charcot-Marie-Tooth disease axonal type 2P Charcot-Marie-Tooth disease axonal type 2Q Charcot-Marie-Tooth disease axonal type 2T Charcot-Marie-Tooth disease axonal type 2U Charcot-Marie-Tooth disease dominant intermediate A Charcot-Marie-Tooth disease dominant intermediate B Charcot-Marie-Tooth disease dominant intermediate C Charcot-Marie-Tooth disease dominant intermediate D Charcot-Marie-Tooth disease dominant intermediate E Charcot-Marie-Tooth disease dominant intermediate F Charcot-Marie-Tooth disease recessive intermediate B Charcot-Marie-Tooth disease recessive intermediate C Charcot-Marie-Tooth disease recessive intermediate D Charcot-Marie-Tooth disease type 1A Charcot-Marie-Tooth disease type 1B Charcot-Marie-Tooth disease type 1C Charcot-Marie-Tooth disease type 1D Charcot-Marie-Tooth disease type 1E Charcot-Marie-Tooth disease type 1F Charcot-Marie-Tooth disease type 2 Charcot-Marie-Tooth disease type 2A1 Charcot-Marie-Tooth disease type 2A2A Charcot-Marie-Tooth disease type 2B1 Charcot-Marie-Tooth disease type 2B2 Charcot-Marie-Tooth disease type 2B Charcot-Marie-Tooth disease type 2D Charcot-Marie-Tooth disease type 2E Charcot-Marie-Tooth disease type 2I Charcot-Marie-Tooth disease type 2J Charcot-Marie-Tooth disease type 2R Charcot-Marie-Tooth disease type 2Y Charcot-Marie-Tooth disease type 3 Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4A Charcot-Marie-Tooth disease type 4B1 Charcot-Marie-Tooth disease type 4B2 Charcot-Marie-Tooth disease type 4B3 Charcot-Marie-Tooth disease type 4C Charcot-Marie-Tooth disease type 4D Charcot-Marie-Tooth disease type 4E Charcot-Marie-Tooth disease type 4F Charcot-Marie-Tooth disease type 4G Charcot-Marie-Tooth disease type 4H Charcot-Marie-Tooth disease type 4J Charcot-Marie-Tooth disease type 4K Charcot-Marie-Tooth disease agenesis of the corpus callosum with peripheral neuropathy agnosia axonal neuropathy cancer centronuclear myopathy X-linked centronuclear myopathy clubfoot congenital structural myopathy demyelinating polyneuropathy developmental coordination disorder facial nerve disease facial paralysis familial periodic paralysis glaucoma hereditary neuropathy with liability to pressure palsies hereditary sensory and autonomic neuropathy type 2 motor peripheral neuropathy myopathy neurodegenerative disease neuropathy obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum peripheral nervous system disease polyneuropathy scoliosis sensory peripheral neuropathy stomach cancer stomach carcinoma
Q9Y5P6	Mannose-1-phosphate guanyltransferase beta	GMPPB	0	1	Bell's palsy Duchenne muscular dystrophy Fukuyama congenital muscular dystrophy Lambert-Eaton myasthenic syndrome Walker-Warburg syndrome agnosia amblyopia autosomal dominant Emery-Dreifuss muscular dystrophy 2 autosomal dominant limb-girdle muscular dystrophy type 1 autosomal dominant limb-girdle muscular dystrophy type 1H autosomal dominant limb-girdle muscular dystrophy type 2 autosomal dominant limb-girdle muscular dystrophy type 3 autosomal dominant limb-girdle muscular dystrophy autosomal recessive limb-girdle muscular dystrophy type 2A autosomal recessive limb-girdle muscular dystrophy type 2B autosomal recessive limb-girdle muscular dystrophy type 2C autosomal recessive limb-girdle muscular dystrophy type 2D autosomal recessive limb-girdle muscular dystrophy type 2E autosomal recessive limb-girdle muscular dystrophy type 2F autosomal recessive limb-girdle muscular dystrophy type 2G autosomal recessive limb-girdle muscular dystrophy type 2H autosomal recessive limb-girdle muscular dystrophy type 2I autosomal recessive limb-girdle muscular dystrophy type 2J autosomal recessive limb-girdle muscular dystrophy type 2K autosomal recessive limb-girdle muscular dystrophy type 2L autosomal recessive limb-girdle muscular dystrophy type 2M autosomal recessive limb-girdle muscular dystrophy type 2N autosomal recessive limb-girdle muscular dystrophy type 2O autosomal recessive limb-girdle muscular dystrophy type 2P autosomal recessive limb-girdle muscular dystrophy type 2Q autosomal recessive limb-girdle muscular dystrophy type 2S autosomal recessive limb-girdle muscular dystrophy type 2T autosomal recessive limb-girdle muscular dystrophy type 2U autosomal recessive limb-girdle muscular dystrophy type 2Y autosomal recessive limb-girdle muscular dystrophy bilateral optic nerve hypoplasia blindness cardiomyopathy cataract centronuclear myopathy cleft palate clubfoot coloboma communicating hydrocephalus cone-rod dystrophy congenital muscular dystrophy-dystroglycanopathy A14 congenital muscular dystrophy-dystroglycanopathy type A1 congenital muscular dystrophy congenital myasthenic syndrome congenital nystagmus congenital ptosis congenital structural myopathy cryptorchidism developmental coordination disorder dissociated nystagmus distal myopathy endomyocardial fibrosis epilepsy esotropia facial nerve disease facial paralysis facioscapulohumeral muscular dystrophy familial periodic paralysis fundus albipunctatus glaucoma holoprosencephaly 1 holoprosencephaly hydrocephalus hypertrophic cardiomyopathy hypertropia idiopathic generalized epilepsy intellectual disability isolated cleft palate isolated elevated serum creatine phosphokinase levels learning disability limb-girdle muscular dystrophy mechanical strabismus megalocornea meningocele microcephaly microphthalmia monocular esotropia muscular dystrophy-dystroglycanopathy type B1 muscular dystrophy myofibrillar myopathy 1 myofibrillar myopathy 3 myopathy myopia obsolete autosomal dominant limb-girdle muscular dystrophy type 1A obsolete autosomal dominant limb-girdle muscular dystrophy type 1B obsolete autosomal dominant limb-girdle muscular dystrophy type 1C obsolete autosomal recessive limb-girdle muscular dystrophy type 2R obstructive hydrocephalus oculopharyngeal muscular dystrophy oligohydramnios ophthalmoplegia optic atrophy pathologic nystagmus ptosis retinal detachment retinitis pigmentosa rippling muscle disease 2 scoliosis senile degeneration of brain sensorineural hearing loss speech disorder spontaneous ocular nystagmus strabismic amblyopia strabismus syndromic X-linked intellectual disability 94 visual epilepsy
Q9H3H5	UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase	DPAGT1 DPAGT2	2	2	Bell's palsy Ebola hemorrhagic fever Lambert-Eaton myasthenic syndrome acute intermittent porphyria agnosia alternating exotropia breast cancer cancer cataract clubfoot colorectal cancer colorectal carcinoma congenital disorder of glycosylation Ij congenital disorder of glycosylation type I congenital disorder of glycosylation congenital myasthenic syndrome 13 congenital myasthenic syndrome congenital nystagmus congenital ptosis cutaneous leishmaniasis developmental and epileptic encephalopathy 36 developmental coordination disorder dissociated nystagmus epilepsy essential hypertension exotropia facial nerve disease facial paralysis familial periodic paralysis fetal akinesia deformation sequence syndrome 1 fetal akinesia deformation sequence syndrome glycoproteinosis hepatocellular carcinoma hypertension intellectual disability isolated elevated serum creatine phosphokinase levels large intestine cancer learning disability leishmaniasis liver cancer microcephaly monocular exotropia mucolipidosis II alpha/beta myopathy pathologic nystagmus pseudosarcomatous fibromatosis ptosis scoliosis spontaneous ocular nystagmus squamous cell carcinoma stomach cancer stomach carcinoma stuttering syndromic X-linked intellectual disability 94 tongue squamous cell carcinoma tuberculosis visceral leishmaniasis visual epilepsy

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