GlyCosmos Portal

Homo sapiens (human)

Summary

Taxonomy ID: 9606
PubChem Taxonomy: 9606

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

Displaying entries **926 - 950** of **1582** in total

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Gene ID	Gene Name	Gene Symbol	Disease Ontology ▼
6184	ribophorin I	RPN1 OST1 oligosaccharyltransferase 1 homolog (S. cerevisiae) oligosaccharyltransferase complex subunit (non-catalytic)	Burkitt lymphoma acute myeloid leukemia arteriosclerotic cardiovascular disease atherosclerosis childhood leukemia chronic kidney disease coronary artery disease leukemia nutmeg liver
80055	post-GPI attachment to proteins inositol deacylase 1	PGAP1 Bst1 FLJ12377 GPI inositol-deacylase SPG67	Burkitt lymphoma Laron syndrome achondroplasia agnosia autosomal recessive intellectual developmental disorder brain disease cerebral degeneration choreatic disease congenital disorder of glycosylation depressive disorder developmental coordination disorder dysthymic disorder dystonia epilepsy factor XII deficiency focal epilepsy fundus dystrophy holoprosencephaly 1 holoprosencephaly intellectual disability learning disability lingual-facial-buccal dyskinesia major depressive disorder melancholic depression microcephaly neurotic disorder obsolete infantile epileptic encephalopathy obsolete melancholia paroxysmal nocturnal hemoglobinuria partial motor epilepsy stereotypic movement disorder syndromic X-linked intellectual disability 94 syndromic X-linked intellectual disability type 10 visual epilepsy
5305	phosphatidylinositol-5-phosphate 4-kinase type 2 alpha	PIP4K2A PIP5KIIA PIP5KIIalpha	Burkitt lymphoma Down syndrome acute lymphoblastic leukemia acute myeloid leukemia adult acute lymphocytic leukemia bipolar disorder breast cancer breast carcinoma cancer childhood acute lymphocytic leukemia childhood leukemia disease of mental health essential thrombocythemia giant cell glioblastoma glioblastoma hematologic cancer high grade glioma leukemia lingual-facial-buccal dyskinesia lymphoblastic lymphoma lysosomal storage disease melanoma myelodysplastic syndrome obsolete major affective disorder 1 obsolete major affective disorder 2 psychotic disorder schizophrenia skin melanoma
684	bone marrow stromal cell antigen 2	BST2 BST-2 CD317 HM1.24 antiviral factor tetherin tetherin	Burkitt lymphoma Down syndrome Ebola hemorrhagic fever Japanese encephalitis Sjogren's syndrome acquired immunodeficiency syndrome alternating hemiplegia of childhood anaplastic astrocytoma angioedema arthritis arthropathy autonomic neuropathy bladder carcinoma brain cancer breast cancer breast carcinoma cancer central nervous system disease chikungunya childhood cerebral astrocytoma childhood leukemia chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma colorectal cancer colorectal carcinoma conduct disorder dengue disease dengue hemorrhagic fever embryoma endometrial cancer endometrial carcinoma esophagus squamous cell carcinoma exanthem fibrillary astrocytoma gemistocytic astrocytoma head and neck cancer head and neck squamous cell carcinoma hepatitis B hepatitis C hepatitis E hepatitis hepatocellular carcinoma high grade glioma human immunodeficiency virus infectious disease influenza juvenile pilocytic astrocytoma kwashiorkor large intestine cancer leukemia liver cancer lupus erythematosus malignant astrocytoma marasmus melanoma multiple myeloma multiple sclerosis nasopharynx carcinoma nervous system disease nonpapillary renal cell carcinoma nutrition disease oral squamous cell carcinoma osteoarthritis papillary renal cell carcinoma parapsoriasis peeling skin syndrome pilocytic astrocytoma primary immunodeficiency disease protein-energy malnutrition protoplasmic astrocytoma psoriasis pustulosis of palm and sole renal carcinoma renal cell carcinoma sarcomatoid renal cell carcinoma scleroderma severe acute respiratory syndrome skin disease skin melanoma stomach cancer stomach carcinoma subependymal giant cell astrocytoma systemic lupus erythematosus systemic scleroderma transitional cell carcinoma urinary bladder cancer urticaria uterine corpus cancer viral infectious disease yellow fever
9126	structural maintenance of chromosomes 3	SMC3 BAM HCAP SMC3L1 bamacan bamacan proteoglycan	Burkitt lymphoma Cockayne syndrome Cornelia de Lange syndrome 1 Cornelia de Lange syndrome 2 Cornelia de Lange syndrome 3 Cornelia de Lange syndrome Dubowitz syndrome Laron syndrome Marfan syndrome Meckel syndrome Noonan syndrome 10 Noonan syndrome 1 Noonan syndrome 2 Noonan syndrome 3 Noonan syndrome 4 Noonan syndrome 5 Noonan syndrome 6 Noonan syndrome 7 Noonan syndrome 8 Noonan syndrome 9 Noonan syndrome Peters anomaly Prader-Willi syndrome Roberts syndrome Robinow syndrome Seckel syndrome Silver-Russell syndrome Turner syndrome X-linked Aarskog syndrome achondroplasia acute myeloid leukemia adenocarcinoma adenoma adult lymphoma allergic asthma anxiety disorder arteriosclerotic cardiovascular disease asthma atherosclerosis atrial heart septal defect 1 atrial heart septal defect 2 atrial heart septal defect 3 atrial heart septal defect 4 atrial heart septal defect 5 atrial heart septal defect 6 atrial heart septal defect 7 atrial heart septal defect 8 atrial heart septal defect 9 atrial heart septal defect attention deficit hyperactivity disorder atypical chronic myeloid leukemia, BCR-ABL1 negative autistic disorder autosomal dominant Robinow syndrome 1 autosomal dominant Robinow syndrome 2 autosomal dominant Robinow syndrome 3 autosomal dominant polycystic kidney disease autosomal recessive Robinow syndrome blepharitis blind hypotensive eye bone cancer bone osteosarcoma bronchus cancer bronchus carcinoma cancer carcinoma cataract 32 multiple types cataract central nervous system lymphoma childhood lymphoma choanal atresia chondrodysplasia-pseudohermaphroditism syndrome chronic interstitial cystitis chronic monocytic leukemia cleft palate cleidocranial dysplasia clubfoot colon carcinoma colorectal cancer cone-rod dystrophy congenital diaphragmatic hernia congenital nystagmus congenital ptosis cornea plana coronary artery disease craniosynostosis cribriform carcinoma cryptorchidism dissociated nystagmus embryoma epilepsy esophagitis fundus albipunctatus gastroesophageal reflux disease generalized anxiety disorder gingivitis glaucoma gonadal dysgenesis granular cell carcinoma hepatocellular carcinoma humeroradial synostosis hydrocephalus hypertrichosis hypertropia hypospadias inguinal hernia intellectual disability interstitial cystitis intestinal benign neoplasm intestinal cancer intestinal volvulus intrinsic asthma isolated cleft palate kidney failure kwashiorkor large intestine cancer learning disability liver cancer lung benign neoplasm lung cancer lung carcinoma lymphoid leukemia lymphoma marasmus mechanical strabismus megacolon microcephalic osteodysplastic primordial dwarfism type I microcephalic osteodysplastic primordial dwarfism type II microcephaly myeloid leukemia myopia neuropathy nutrition disease obsolete SC phocomelia syndrome obsolete ymphosarcoma ophthalmoplegia osteosarcoma patent foramen ovale pathologic nystagmus peptic esophagitis periodontitis peripheral nervous system disease placental insufficiency pneumonia prostate cancer prostate carcinoma protein-energy malnutrition prune belly syndrome ptosis pulmonary valve stenosis pyloric stenosis radioulnar synostosis retinitis pigmentosa sarcomatoid carcinoma sensorineural hearing loss situs inversus speech disorder spontaneous ocular nystagmus strabismus syndromic X-linked intellectual disability 94 thromboangiitis obliterans toxic megacolon trichohepatoenteric syndrome 1 trichohepatoenteric syndrome tuberous sclerosis tubular adenocarcinoma ventricular septal defect vesicoureteral reflux visual epilepsy
53947	alpha 1,4-galactosyltransferase (P1PK blood group)	A4GALT A14GALT CD77 synthase Gb3 synthase Gb3S P(k) globotriaosylceramide synthase lactosylceramide 4-alpha-galactosyltransferase	Burkitt lymphoma Caffey disease acute megakaryocytic leukemia adenocarcinoma adenoma cancer cribriform carcinoma embryoma gastric adenocarcinoma granular cell carcinoma hematologic cancer hemolytic-uremic syndrome kidney failure leukemia teratocarcinoma thrombophilia tubular adenocarcinoma
8809	interleukin 18 receptor 1	IL18R1 CD218a IL-1Rrp IL1RRP	Burkitt lymphoma CD40 ligand deficiency Clostridium difficile colitis Crohn's colitis Crohn's disease Graves' disease HELLP syndrome Holt-Oram syndrome Klippel-Trenaunay syndrome MHC class II deficiency Muckle-Wells syndrome Nezelof syndrome Norum disease Richter's syndrome Rubinstein-Taybi syndrome Sezary's disease Sjogren's syndrome T-cell acute lymphoblastic leukemia Tangier disease VACTERL association X-linked severe combined immunodeficiency abdominal aortic aneurysm abetalipoproteinemia acoustic neuroma acute lymphoblastic leukemia acute myeloid leukemia acute myocardial infarction acute promyelocytic leukemia adenosine deaminase deficiency adult acute lymphocytic leukemia aggressive NK-cell leukemia alcohol dependence alcohol use disorder alcoholic hepatitis allergic asthma allergic disease allergic rhinitis amyotrophic lateral sclerosis angiomatous meningioma ankylosing spondylitis anthracosilicosis anthracosis arrhythmogenic right ventricular cardiomyopathy arteriosclerotic cardiovascular disease arthritis arthropathy asbestosis ascending cholangitis asthma atherosclerosis atopic dermatitis atypical chronic myeloid leukemia, BCR-ABL1 negative autoimmune disease autoimmune lymphoproliferative syndrome type 2A autoimmune lymphoproliferative syndrome type 2B autoimmune lymphoproliferative syndrome type 3 autoimmune lymphoproliferative syndrome autoimmune thyroiditis autosomal dominant familial periodic fever bacterial infectious disease benign ependymoma benign meningioma bipolar disorder bladder carcinoma bone marrow cancer bone osteosarcoma breast cancer breast carcinoma bronchus cancer bronchus carcinoma brucellosis cancer cardiovascular system disease cavernous hemangioma celiac disease cellular ependymoma central nervous system cancer cerebral convexity meningioma cerebral infarction cerebrovascular disease cervical adenocarcinoma cervical cancer cervical squamous cell carcinoma cervix carcinoma childhood acute lymphocytic leukemia childhood leukemia childhood osteosarcoma cholangitis choreaacanthocytosis chorioangioma chromophobe renal cell carcinoma chronic eosinophilic leukemia chronic lymphocytic leukemia chronic monocytic leukemia chronic myeloid leukemia chronic obstructive pulmonary disease clear cell meningioma clear cell renal cell carcinoma colitis collecting duct carcinoma colorectal cancer colorectal carcinoma combined T cell and B cell immunodeficiency common variable immunodeficiency complement deficiency contagious pustular dermatitis coronary artery disease coronary thrombosis cowpox depressive disorder dermatitis diabetes mellitus diabetic ketoacidosis diarrhea dilated cardiomyopathy 1A dilated cardiomyopathy dysentery eclampsia embryoma endocrine exophthalmos endometriosis of uterus endometriosis eosinophilic esophagitis erythema infectiosum esophageal cancer esophageal carcinoma esophagitis essential thrombocythemia exanthema subitum fibrous meningioma gastritis gastroenteritis gastroesophageal reflux disease giant cell glioblastoma glioblastoma gliosarcoma glomus tumor goiter head and neck squamous cell carcinoma heart disease hemangioma hematopoietic system disease hepatitis B hepatocellular carcinoma high grade glioma histiocytoid hemangioma hypereosinophilic syndrome hyperthyroidism hypolipoproteinemia idiopathic interstitial pneumonia idiopathic pulmonary fibrosis ileitis ileocolitis immune system disease inflammatory bowel disease 1 inflammatory bowel disease influenza intermediate coronary syndrome interstitial nephritis intestinal infectious disease intramuscular hemangioma intraorbital meningioma intraventricular meningioma intrinsic asthma irritable bowel syndrome juvenile myelomonocytic leukemia keratoconjunctivitis sicca large intestine cancer leech infestation leiomyoma leprosy leukemia liver cancer luminal breast carcinoma A lung benign neoplasm lung cancer lung carcinoma lung disease lung non-small cell carcinoma lung small cell carcinoma lymphangioma lymphoblastic lymphoma lymphoid leukemia lymphoplasmacyte-rich meningioma lymphoproliferative syndrome 1 lymphoproliferative syndrome 2 malaria maturity-onset diabetes of the young measles melanoma meningioma meningothelial meningioma microcystic meningioma microphthalmia with limb anomalies milker's nodule mixed glioma multiple sclerosis mumps myasthenia gravis myelodysplastic syndrome myelofibrosis myeloid leukemia myeloproliferative neoplasm myiasis myocardial infarction myofibroma myotonic dystrophy type 2 myxopapillary ependymoma nail-patella syndrome neuroblastoma neurocirculatory asthenia nonpapillary renal cell carcinoma obsolete melancholia obsolete type 1 diabetes mellitus 9 obstructive sleep apnea olfactory groove meningioma ophthalmia neonatorum ornithosis osteoarthritis osteomyelitis osteosarcoma pancreatic cancer pancreatic carcinoma papillary ependymoma papillary renal cell carcinoma parapsoriasis parasagittal meningioma peptic esophagitis periodontal disease periodontitis pituitary adenoma plasmacytoma polycythemia vera polycythemia pre-eclampsia primary biliary cholangitis primary cutaneous amyloidosis primary immunodeficiency disease primary pulmonary hypertension primary sclerosing cholangitis progressive muscular atrophy psammomatous meningioma psoriasis pulmonary emphysema pulmonary fibrosis pulmonary sarcoidosis pulpitis pustulosis of palm and sole pyelitis pyelonephritis red-green color blindness renal carcinoma renal cell carcinoma respiratory syncytial virus infectious disease rheumatoid arthritis rubella sarcoidosis sarcomatoid renal cell carcinoma schizophrenia sclerosing cholangitis secretory meningioma seminoma severe acute respiratory syndrome severe combined immunodeficiency silent myocardial infarction skin melanoma smallpox spinal meningioma split hand-foot malformation 1 with sensorineural hearing loss stomach cancer stomach carcinoma suppurative cholangitis systemic Epstein-Barr virus positive T-cell lymphoma of childhood systemic lupus erythematosus tanycytic ependymoma testicular cancer testicular germ cell cancer testis seminoma thrombocytopenia-absent radius syndrome thyroid gland anaplastic carcinoma thyroid gland disease thyrotoxicosis toxoplasmosis trachoma transitional meningioma 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 ulcerative colitis urinary bladder cancer uterine fibroid uveoparotid fever variola major variola minor vasomotor rhinitis
4048	leukotriene A4 hydrolase	LTA4H	Burkitt lymphoma Buruli ulcer disease Crohn's colitis Crohn's disease Down syndrome abdominal aortic aneurysm abdominal obesity-metabolic syndrome 1 acquired immunodeficiency syndrome acute myocardial infarction adenocarcinoma adenoma allergic asthma arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease asthma atherosclerosis bacterial meningitis cancer cardiovascular system disease cerebral infarction cerebrovascular disease chronic myeloid leukemia colorectal cancer colorectal carcinoma coronary artery disease coronary thrombosis cribriform carcinoma depressive disorder dysthymic disorder embryoma familial nephrotic syndrome granular cell carcinoma heart disease human immunodeficiency virus infectious disease idiopathic interstitial pneumonia idiopathic pulmonary fibrosis inflammatory bowel disease 1 inflammatory bowel disease intrinsic asthma large intestine cancer laryngeal squamous cell carcinoma leprosy lipoid nephrosis major depressive disorder melancholic depression melanoma myeloproliferative disorder with eosinophilia myocardial infarction nephrotic syndrome neurotic disorder obsolete melancholia pancreatic cancer pancreatic carcinoma prostate cancer prostate carcinoma pulmonary tuberculosis silent myocardial infarction skin benign neoplasm skin cancer skin melanoma squamous cell carcinoma squamous cell neoplasm tongue squamous cell carcinoma tuberculosis tuberculous pneumothorax tubular adenocarcinoma ulcerative colitis viral meningitis
93183	phosphatidylinositol glycan anchor biosynthesis class M	PIGM DPM:GlcN-(acyl-)PI mannosyltransferase GPI mannosyltransferase 1 GPI-MT-I PIG-M dol-P-Man dependent GPI mannosyltransferase	Budd-Chiari syndrome epilepsy focal epilepsy paroxysmal nocturnal hemoglobinuria partial motor epilepsy portal hypertension portal vein thrombosis thrombophilia visual epilepsy
2822	glycosylphosphatidylinositol specific phospholipase D1	GPLD1	Budd-Chiari syndrome Norum disease Richter's syndrome Tangier disease abetalipoproteinemia acute myocardial infarction arteriosclerotic cardiovascular disease atherosclerosis brain infarction breast cancer breast carcinoma cancer carcinoma choreaacanthocytosis chronic lymphocytic leukemia colon cancer colon carcinoma colonic benign neoplasm colorectal cancer coronary artery disease coronary thrombosis embryoma hypolipoproteinemia large intestine cancer melanoma myocardial infarction nutmeg liver osteoporosis papillary carcinoma prostate cancer prostate carcinoma rheumatoid arthritis sarcomatoid carcinoma silent myocardial infarction skin melanoma succinic semialdehyde dehydrogenase deficiency thyroid adenoma thyroid cancer thyroid gland carcinoma
23171	glycerol-3-phosphate dehydrogenase 1 like	GPD1L KIAA0089	Brugada syndrome 1 Brugada syndrome 2 Brugada syndrome 3 Brugada syndrome 4 Brugada syndrome 5 Brugada syndrome 6 Brugada syndrome 7 Brugada syndrome 8 Brugada syndrome 9 Brugada syndrome arteriosclerotic cardiovascular disease arthritis arthropathy atherosclerosis atrial fibrillation congestive heart failure coronary artery disease head and neck squamous cell carcinoma nutmeg liver osteoarthritis sick sinus syndrome steatotic liver disease sudden infant death syndrome
781	calcium voltage-gated channel auxiliary subunit alpha2delta 1	CACNA2D1 alpha2delta-1 lncRNA-N3	Brugada syndrome 1 Brugada syndrome 2 Brugada syndrome 3 Brugada syndrome 4 Brugada syndrome 5 Brugada syndrome 6 Brugada syndrome 7 Brugada syndrome 8 Brugada syndrome 9 Brugada syndrome West syndrome Williams-Beuren syndrome acute myeloid leukemia amelogenesis imperfecta type 1G atrial fibrillation atrioventricular block azoospermia brain infarction cancer cardiac arrest colon cancer colonic benign neoplasm colorectal cancer depressive disorder developmental and epileptic encephalopathy 110 embryoma epilepsy essential hypertension glaucoma hepatocellular carcinoma hypertension idiopathic scoliosis intellectual disability large intestine cancer learning disability liver cancer major depressive disorder malignant hyperthermia melancholic depression neurotic disorder obsolete infantile epileptic encephalopathy obsolete melancholia primary open angle glaucoma short QT syndrome sick sinus syndrome stomach cancer stomach carcinoma supravalvular aortic stenosis uveal melanoma
54995	3-oxoacyl-ACP synthase, mitochondrial	OXSM CEM1 FASN2D FLJ20604 KS beta-ketoacyl synthase	Brucella melitensis brucellosis breast cancer tuberculosis
6441	surfactant protein D	SFTPD COLEC7 SP-D	Bloch-Sulzberger syndrome Coronavirus infectious disease Crohn's colitis Crohn's disease Ebola hemorrhagic fever Fabry disease Wolman disease acquired immunodeficiency syndrome acute interstitial pneumonia acute lymphoblastic leukemia acute pancreatitis adenocarcinoma adenoid hypertrophy adenoma adult acute lymphocytic leukemia adult respiratory distress syndrome allergic asthma allergic disease allergic rhinitis anthracosilicosis arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy asbestosis asthma atherosclerosis bacterial pneumonia bacterial sepsis blastomycosis brain stem infarction breast cancer bronchiectasis bronchiolitis obliterans bronchiolitis bronchitis bronchopulmonary dysplasia bronchus cancer bronchus carcinoma byssinosis cancer cardiovascular system disease cataract 32 multiple types cerebral artery occlusion cerebral infarction cerebrovascular disease childhood acute lymphocytic leukemia chronic ethmoiditis chronic interstitial cystitis chronic obstructive pulmonary disease chronic sphenoidal sinusitis chylomicron retention disease colitis communicating hydrocephalus cone-rod dystrophy congenital diaphragmatic hernia congestive heart failure corneal ulcer coronary artery disease coronary stenosis craniosynostosis cribriform carcinoma cystic fibrosis diabetes mellitus diabetic ketoacidosis disease of metabolism dry eye syndrome embryoma fundus albipunctatus gastroenteritis glomerulonephritis granular cell carcinoma heart disease herpes simplex virus keratitis human immunodeficiency virus infectious disease hydrocephalus hypereosinophilic syndrome hypomelanosis of Ito idiopathic interstitial pneumonia idiopathic pulmonary fibrosis ileitis ileocolitis inflammatory bowel disease 1 inflammatory bowel disease influenza interstitial cystitis interstitial lung disease interstitial nephritis intrinsic asthma kidney disease leprosy leukopenia lipid storage disease lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung disease lung non-small cell carcinoma lung small cell carcinoma lymphangioleiomyomatosis lymphoblastic lymphoma middle cerebral artery infarction mixed connective tissue disease nephritis nephrosis neurogenic arthropathy newborn respiratory distress syndrome nutmeg liver obesity obstructive hydrocephalus obstructive lung disease osteoarthritis ovarian cancer ovarian carcinoma pancreatic adenocarcinoma pancreatic cancer pancreatic carcinoma pancreatitis paracoccidioidomycosis parapsoriasis periodontitis peripheral artery disease periventricular leukomalacia pneumocystosis pneumonia postinflammatory pulmonary fibrosis pre-malignant neoplasm prostate adenocarcinoma prostate cancer prostate carcinoma prune belly syndrome psoriasis pulmonary alveolar proteinosis pulmonary emphysema pulmonary fibrosis pustulosis of palm and sole pyelitis pyelonephritis pyoureter renal infectious disease respiratory failure respiratory syncytial virus infectious disease retinitis pigmentosa rheumatoid arthritis rhinitis sarcoidosis scleroderma senile degeneration of brain sickle cell anemia silicosis sinusitis squamous cell carcinoma sudden infant death syndrome systemic lupus erythematosus systemic primary carnitine deficiency disease systemic scleroderma tongue squamous cell carcinoma tuberculosis tubular adenocarcinoma type 2 diabetes mellitus ulcerative colitis urinary tract obstruction vasomotor rhinitis viral infectious disease xerophthalmia
50814	NAD(P) dependent steroid dehydrogenase-like	NSDHL H105e3 SDR31E1 XAP104 short chain dehydrogenase/reductase family 31E, member 1	Bloch-Sulzberger syndrome CHILD syndrome CK syndrome Joubert syndrome Miller-Dieker lissencephaly syndrome Potter's syndrome Sjogren-Larsson syndrome X-linked chondrodysplasia punctata 1 X-linked chondrodysplasia punctata 2 acquired hyperkeratosis autosomal dominant chondrodysplasia punctata autosomal recessive congenital ichthyosis bilateral renal aplasia cancer chondrodysplasia punctata cleft lip complex cortical dysplasia with other brain malformations 1 complex cortical dysplasia with other brain malformations 7 cortical dysplasia-focal epilepsy syndrome cutaneous fibrous histiocytoma epidermal nevus epilepsy granuloma annulare head and neck squamous cell carcinoma heart septal defect hidradenoma hydranencephaly hydronephrosis hypertropia hypomelanosis of Ito intellectual disability learning disability lissencephaly mechanical strabismus microcephaly obsolete congenital ichthyosiform erythroderma omphalocele ophthalmoplegia pontocerebellar hypoplasia type 2D pontocerebellar hypoplasia type 7 pontocerebellar hypoplasia type 8 pontocerebellar hypoplasia type 9 rhizomelic chondrodysplasia punctata type 1 rhizomelic chondrodysplasia punctata type 2 rhizomelic chondrodysplasia punctata type 3 scoliosis septooptic dysplasia short-rib thoracic dysplasia 14 with polydactyly skin papilloma skin tag strabismus syndromic X-linked intellectual disability Najm type syringoma umbilical hernia ventricular septal defect verruciform xanthoma of skin visual epilepsy
1291	collagen type VI alpha 1 chain	COL6A1	Bethlem myopathy Ullrich congenital muscular dystrophy congenital muscular dystrophy muscular dystrophy
3964	galectin 8	LGALS8 PCTA-1	Bernard-Soulier syndrome Glanzmann's thrombasthenia alopecia areata arthritis arthropathy autoimmune disease autoimmune lymphoproliferative syndrome breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma chromophobe renal cell carcinoma chronic fatigue syndrome clear cell renal cell carcinoma collecting duct carcinoma colon cancer colonic benign neoplasm colorectal cancer embryoma encephalitis encephalomyelitis enthesopathy fibromyalgia giant cell glioblastoma glioblastoma gray platelet syndrome high grade glioma immune system disease large intestine cancer liver cirrhosis lung benign neoplasm lung cancer lung carcinoma lung squamous cell carcinoma lymphopenia multiple myeloma multiple sclerosis myasthenia gravis myelitis nodular prostate nonpapillary renal cell carcinoma osteoarthritis osteoporosis ovarian cancer ovarian carcinoma papillary renal cell carcinoma platelet-type bleeding disorder 17 platelet-type bleeding disorder 18 prostate cancer prostate carcinoma prostatic adenoma qualitative platelet defect renal carcinoma renal cell carcinoma rheumatoid arthritis sarcomatoid carcinoma sarcomatoid renal cell carcinoma squamous cell carcinoma systemic lupus erythematosus tongue squamous cell carcinoma viral infectious disease
199857	ALG14 UDP-N-acetylglucosaminyltransferase subunit	ALG14 MGC19780	Bell's palsy agnosia clubfoot congenital myasthenic syndrome 15 congenital myasthenic syndrome congenital ptosis developmental coordination disorder facial nerve disease facial paralysis familial periodic paralysis idiopathic scoliosis intellectual disability isolated elevated serum creatine phosphokinase levels learning disability myopathy ptosis scoliosis syndromic X-linked intellectual disability 94
85365	ALG2 alpha-1,3/1,6-mannosyltransferase	ALG2 CDG1I CDGIi FLJ14511 NET38 hALPG2	Bell's palsy agnosia blindness breast cancer breast carcinoma cancer cataract clubfoot coloboma congenital disorder of glycosylation Ii congenital disorder of glycosylation type I congenital disorder of glycosylation type II congenital disorder of glycosylation congenital myasthenic syndrome 14 congenital myasthenic syndrome congenital nystagmus congenital ptosis developmental coordination disorder dissociated nystagmus embryoma epilepsy facial nerve disease facial paralysis familial periodic paralysis giant cell glioblastoma glioblastoma high grade glioma intellectual disability isolated elevated serum creatine phosphokinase levels learning disability myopathy obsolete infantile epileptic encephalopathy pathologic nystagmus ptosis scoliosis spontaneous ocular nystagmus visual epilepsy
64419	myotubularin related protein 14	MTMR14 FLJ22405 FLJ90311 egg-derived tyrosine phosphatase homolog (Drosophila) hEDTP hJumpy	Bell's palsy agnosia asphyxia neonatorum autosomal dominant centronuclear myopathy autosomal recessive centronuclear myopathy cancer capillary hemangioma cardiomyopathy cavernous hemangioma centronuclear myopathy 1 centronuclear myopathy X-linked centronuclear myopathy congenital merosin-deficient muscular dystrophy 1A congenital muscular dystrophy 1B congenital muscular dystrophy due to LMNA mutation congenital muscular dystrophy due to integrin alpha-7 deficiency congenital myopathy 1A congenital myopathy 4A congenital ptosis congenital structural myopathy cryptorchidism developmental coordination disorder endomyocardial fibrosis facial nerve disease facial paralysis familial periodic paralysis hemangioma hepatocellular carcinoma hypertrophic cardiomyopathy liver cancer liver carcinoma malignant hyperthermia megaconial type congenital muscular dystrophy muscular dystrophy-dystroglycanopathy type B1 muscular dystrophy-dystroglycanopathy type B5 muscular dystrophy-dystroglycanopathy type B6 myopathy nemaline myopathy obesity ophthalmoplegia ovarian carcinoma polyhydramnios ptosis rigid spine muscular dystrophy 1 tubular aggregate myopathy 1
79868	ALG13 UDP-N-acetylglucosaminyltransferase subunit	ALG13 CDG1S FLJ23018 MDS031 N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase TDRD13 YGL047W tudor domain containing 13	Bell's palsy Meckel's diverticulum West syndrome agnosia attention deficit hyperactivity disorder autistic disorder blindness cerebral degeneration choreatic disease clubfoot congenital disorder of glycosylation type I congenital disorder of glycosylation congenital nystagmus craniosynostosis developmental and epileptic encephalopathy 36 dissociated nystagmus epilepsy facial nerve disease facial paralysis focal segmental glomerulosclerosis hypophosphatemia intellectual disability learning disability lung cancer lung non-small cell carcinoma microcephaly non-syndromic X-linked intellectual disability obesity obsolete infantile epileptic encephalopathy optic atrophy pathologic nystagmus placental insufficiency pyloric stenosis spontaneous ocular nystagmus syndromic X-linked intellectual disability 94 syndromic X-linked intellectual disability type 10 visual epilepsy
2673	glutamine--fructose-6-phosphate transaminase 1	GFPT1 GFA GFAT GFAT1	Bell's palsy Laron syndrome Machado-Joseph disease Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Zollinger-Ellison syndrome achondroplasia agnosia brain cancer breast cancer breast carcinoma cancer centronuclear myopathy clubfoot congenital myasthenic syndrome 12 congenital myasthenic syndrome 4C congenital myasthenic syndrome congenital ptosis congenital structural myopathy developmental coordination disorder diabetes mellitus diabetic ketoacidosis embryoma facial nerve disease facial paralysis familial hyperlipidemia familial periodic paralysis giant cell glioblastoma glioblastoma glomerulonephritis hepatitis B hepatocellular carcinoma high grade glioma hyperglycemia hyperinsulinism hypertropia isolated elevated serum creatine phosphokinase levels kidney disease liver cancer mechanical strabismus myopathy nasopharynx carcinoma nephritis nephrosis neuromuscular disease neuromuscular junction disease obesity ophthalmoplegia pancreatic cancer pancreatic carcinoma ptosis pyoureter scoliosis stomach cancer stomach carcinoma strabismus tubular aggregate myopathy 1 type 2 diabetes mellitus
1798	dolichyl-phosphate N-acetylglucosaminephosphotransferase 1	DPAGT1 ALG7 CDG-Ij D11S366 DGPT GPT GlcNAc-1-P transferase 1 UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase 1	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
29925	GDP-mannose pyrophosphorylase B	GMPPB KIAA1851 mannose-1-phosphate guanyltransferase beta	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 B14 muscular dystrophy-dystroglycanopathy type B1 muscular dystrophy-dystroglycanopathy 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
35	acyl-CoA dehydrogenase short chain	ACADS ACAD3 SCAD	Bell's palsy Cockayne syndrome Cornelia de Lange syndrome Dubowitz syndrome Noonan syndrome 10 Noonan syndrome 1 Noonan syndrome 2 Noonan syndrome 3 Noonan syndrome 4 Noonan syndrome 5 Noonan syndrome 6 Noonan syndrome 7 Noonan syndrome 8 Noonan syndrome 9 Noonan syndrome Prader-Willi syndrome Reye syndrome Robinow syndrome Seckel syndrome Silver-Russell syndrome Stevens-Johnson syndrome X-linked Aarskog syndrome alcohol use disorder arteriosclerotic cardiovascular disease atherosclerosis autosomal dominant Robinow syndrome 1 autosomal dominant Robinow syndrome 2 autosomal dominant Robinow syndrome 3 autosomal recessive Robinow syndrome bipolar disorder cancer cardiomyopathy chondrodysplasia-pseudohermaphroditism syndrome chronic kidney disease congestive heart failure coronary artery disease embryoma endomyocardial fibrosis epilepsy erythema multiforme facial nerve disease facial paralysis familial periodic paralysis hepatocellular carcinoma hypertrophic cardiomyopathy liver cancer medium chain acyl-CoA dehydrogenase deficiency microcephalic osteodysplastic primordial dwarfism type I microcephalic osteodysplastic primordial dwarfism type II myopathy nutmeg liver pancreatic cancer pancreatic carcinoma psychotic disorder schizoaffective disorder schizophrenia schizophreniform disorder scoliosis short chain acyl-CoA dehydrogenase deficiency visual epilepsy

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