GlyCosmos Portal

Homo sapiens (human)

Summary

Taxonomy ID: 9606
PubChem Taxonomy: 9606

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

Displaying entries **751 - 775** of **1582** in total

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Gene ID ▲	Gene Name	Gene Symbol	Disease Ontology
9061	3'-phosphoadenosine 5'-phosphosulfate synthase 1	PAPSS1 ATPSK1 PAPSS adenylyl-sulfate kinase sulfate adenylyltransferase	cancer embryoma hepatitis B hepatocellular carcinoma liver cancer lung cancer lung non-small cell carcinoma
9091	phosphatidylinositol glycan anchor biosynthesis class Q	PIGQ GPI1 Phosphatidylinositol N-acetylglucosaminyltransferase subunit Q hGPI1	Joubert syndrome Miller-Dieker lissencephaly syndrome Unverricht-Lundborg syndrome West syndrome acute myocardial infarction alternating exotropia aromatase excess syndrome 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 basal ganglia disease blepharospasm cleft palate complex cortical dysplasia with other brain malformations 1 complex cortical dysplasia with other brain malformations 7 congenital nystagmus congenital ptosis coronary thrombosis cortical dysplasia-focal epilepsy syndrome developmental and epileptic encephalopathy 1 dissociated nystagmus dystonia early infantile epileptic encephalopathy early myoclonic encephalopathy epilepsy episodic ataxia exotropia focal hand dystonia hydranencephaly hydronephrosis hypertropia inguinal hernia intellectual disability intestinal volvulus isolated cleft palate learning disability lingual-facial-buccal dyskinesia lissencephaly mechanical strabismus microcephaly monocular exotropia multiple congenital anomalies-hypotonia-seizures syndrome 4 myocardial infarction obsolete infantile epileptic encephalopathy omphalocele ophthalmoplegia optic atrophy patent ductus arteriosus patent foramen ovale pathologic nystagmus pontocerebellar hypoplasia type 2D pontocerebellar hypoplasia type 7 pontocerebellar hypoplasia type 8 pontocerebellar hypoplasia type 9 primary immunodeficiency disease ptosis pulmonary valve stenosis renal agenesis septooptic dysplasia short-rib thoracic dysplasia 14 with polydactyly silent myocardial infarction spontaneous ocular nystagmus strabismus syndromic X-linked intellectual disability Najm type umbilical hernia ureterocele ventricular septal defect vesicoureteral reflux visual epilepsy
9104	regucalcin	RGN RC SMP30 gluconolactonase senescence marker protein-30	Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease Becker muscular dystrophy Duchenne muscular dystrophy Pick's disease Reye syndrome adenocarcinoma adenoma argininosuccinic aciduria 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 breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer cataract cerebral degeneration cervical adenocarcinoma cervix carcinoma chromophobe renal cell carcinoma clear cell renal cell carcinoma colitis collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma coronary artery disease cribriform carcinoma depressive disorder diarrhea distal myopathy dry eye syndrome dysthymic disorder embryoma endomyocardial fibrosis essential hypertension facioscapulohumeral muscular dystrophy familial hyperlipidemia gallbladder disease gastroenteritis glomerulonephritis granular cell carcinoma hepatitis B hepatitis hepatoblastoma hepatocellular carcinoma hypertension ileitis ileocolitis invasive ductal carcinoma kidney cancer kidney disease kidney failure large intestine cancer limb-girdle muscular dystrophy liver cancer liver carcinoma liver cirrhosis liver disease lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma major depressive disorder male infertility melancholic depression muscular dystrophy nephritis nephrosis neuropathy neurotic disorder nonpapillary renal cell carcinoma obsolete autosomal dominant limb-girdle muscular dystrophy type 1A obsolete autosomal dominant limb-girdle muscular dystrophy type 1B obsolete autosomal dominant limb-girdle muscular dystrophy type 1C obsolete autosomal recessive limb-girdle muscular dystrophy type 2R obsolete melancholia oculopharyngeal muscular dystrophy osteomalacia pancreatic cancer pancreatic carcinoma papillary renal cell carcinoma peripheral nervous system disease polyneuropathy prostate cancer prostate carcinoma pulmonary emphysema pyoureter renal carcinoma renal cell carcinoma rhabdomyosarcoma rickets sarcomatoid renal cell carcinoma scurvy stomach cancer tubular adenocarcinoma uremia vascular dementia vitelliform macular dystrophy xerophthalmia
9107	myotubularin related protein 6	MTMR6	Charcot-Marie-Tooth disease cancer centronuclear myopathy X-linked centronuclear myopathy
9108	myotubularin related protein 7	MTMR7	Charcot-Marie-Tooth disease Creutzfeldt-Jakob disease cancer centronuclear myopathy X-linked centronuclear myopathy colorectal cancer colorectal carcinoma embryoma large intestine cancer
9110	myotubularin related protein 4	MTMR4 KIAA0647 ZFYVE11	Charcot-Marie-Tooth disease anterior horn cell disease benign mesothelioma centronuclear myopathy X-linked herpes simplex malignant mesothelioma muscular atrophy
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
9162	diacylglycerol kinase iota	DGKI DGK-IOTA	acquired immunodeficiency syndrome alexia cancer dyslexia eclampsia giant cell glioblastoma glioblastoma high grade glioma human immunodeficiency virus infectious disease melanoma schizophrenia skin melanoma
9173	interleukin 1 receptor like 1	IL1RL1 DER4 FIT-1 IL33R ST2 ST2L ST2V T1 homolog of mouse growth stimulation-expressed	Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease Beckwith-Wiedemann syndrome CLOVES syndrome Cri-Du-Chat syndrome Crohn's colitis Crohn's disease Down syndrome Duchenne muscular dystrophy Graves' disease Hantavirus hemorrhagic fever with renal syndrome Human papillomavirus infectious disease Japanese encephalitis Loeffler syndrome Perlman syndrome Pick's disease Reye syndrome Richter's syndrome Sotos syndrome Wolf-Hirschhorn syndrome acute leukemia acute lymphoblastic leukemia acute myeloid leukemia acute myocardial infarction adult acute lymphocytic leukemia adult lymphoma allergic asthma allergic disease allergic rhinitis arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease asthma atherosclerosis atopic dermatitis autoimmune disease autoimmune lymphoproliferative syndrome autoimmune thyroiditis bacterial pneumonia bacterial sepsis bronchiolitis bronchus cancer bronchus carcinoma cancer cardiomyopathy cardiovascular system disease central nervous system lymphoma cerebral degeneration cerebral infarction cerebrovascular disease childhood acute lymphocytic leukemia childhood leukemia childhood lymphoma chorioamnionitis choroideremia chronic ethmoiditis chronic lymphocytic leukemia chronic obstructive pulmonary disease chronic sphenoidal sinusitis colorectal cancer colorectal carcinoma congestive heart failure coronary artery disease craniosynostosis dengue disease dengue hemorrhagic fever dermatitis diabetic ketoacidosis diarrhea dilated cardiomyopathy 1A dilated cardiomyopathy endomyocardial fibrosis eosinophilic esophagitis eosinophilic pneumonia essential hypertension heart disease hemolytic-uremic syndrome hepatitis B hepatoblastoma hepatocellular carcinoma hypereosinophilic syndrome hypertension hyperthyroidism hypertrophic cardiomyopathy idiopathic interstitial pneumonia idiopathic pulmonary fibrosis immune system disease infantile histiocytoid cardiomyopathy inflammatory bowel disease 1 inflammatory bowel disease intestinal schistosomiasis intrinsic asthma large intestine cancer leprosy leukemia lung benign neoplasm lung cancer lung carcinoma lung disease lymphoma multiple myeloma muscular dystrophy nutmeg liver obsolete type 1 diabetes mellitus 9 obsolete ymphosarcoma pancreatic adenocarcinoma paracoccidioidomycosis parasitic helminthiasis infectious disease peripheral artery disease postinflammatory pulmonary fibrosis pulmonary eosinophilia pulmonary fibrosis rhinitis stomach cancer stomach carcinoma temporal arteritis thyrotoxicosis tongue squamous cell carcinoma 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 ulcerative colitis ureteral obstruction vasomotor rhinitis viral infectious disease yellow fever
9197	solute carrier family 33 member 1	SLC33A1 AT-1 AT1 Acetyl-CoA transporter 1	Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease Bartter disease Charcot-Marie-Tooth disease type 5 Conn's syndrome Henoch-Schoenlein purpura MASA syndrome Marfan syndrome Mast syndrome Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Pick's disease Reye syndrome SPOAN syndrome Troyer syndrome Waterhouse-Friderichsen syndrome abdominal aortic aneurysm abdominal obesity-metabolic syndrome 1 acute myocardial infarction adenocarcinoma adenoma adrenal gland cancer allergic asthma amyotrophic lateral sclerosis type 1 amyotrophic lateral sclerosis anxiety disorder arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease asthma atherosclerosis atrial fibrillation autism spectrum disorder autistic disorder bestrophinopathy brain disease brain ischemia brain stem infarction breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer cardiomyopathy cardiovascular system 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 cerebral artery occlusion cerebral degeneration cerebral infarction cerebrovascular disease chronic kidney disease colitis colorectal cancer colorectal carcinoma congenital nystagmus congestive heart failure coronary artery disease coronary thrombosis cribriform carcinoma deafness-dystonia-optic neuronopathy syndrome dementia depressive disorder diabetes mellitus diabetic ketoacidosis dissociated nystagmus dysthymic disorder embryoma endometriosis of uterus endometriosis endomyocardial fibrosis epilepsy epithelioid leiomyosarcoma essential hypertension familial hypertrophic cardiomyopathy focal epilepsy follicular adenoma gastroenteritis generalized anxiety disorder glomerulonephritis granular cell carcinoma heart disease hepatoblastoma hepatocellular carcinoma hereditary spastic paraplegia 10 hereditary spastic paraplegia 11 hereditary spastic paraplegia 12 hereditary spastic paraplegia 13 hereditary spastic paraplegia 14 hereditary spastic paraplegia 15 hereditary spastic paraplegia 16 hereditary spastic paraplegia 17 hereditary spastic paraplegia 18 hereditary spastic paraplegia 19 hereditary spastic paraplegia 23 hereditary spastic paraplegia 24 hereditary spastic paraplegia 25 hereditary spastic paraplegia 26 hereditary spastic paraplegia 27 hereditary spastic paraplegia 28 hereditary spastic paraplegia 29 hereditary spastic paraplegia 2 hereditary spastic paraplegia 30 hereditary spastic paraplegia 31 hereditary spastic paraplegia 32 hereditary spastic paraplegia 34 hereditary spastic paraplegia 35 hereditary spastic paraplegia 36 hereditary spastic paraplegia 37 hereditary spastic paraplegia 38 hereditary spastic paraplegia 39 hereditary spastic paraplegia 3A hereditary spastic paraplegia 41 hereditary spastic paraplegia 42 hereditary spastic paraplegia 43 hereditary spastic paraplegia 44 hereditary spastic paraplegia 45 hereditary spastic paraplegia 46 hereditary spastic paraplegia 48 hereditary spastic paraplegia 49 hereditary spastic paraplegia 4 hereditary spastic paraplegia 53 hereditary spastic paraplegia 54 hereditary spastic paraplegia 55 hereditary spastic paraplegia 56 hereditary spastic paraplegia 57 hereditary spastic paraplegia 5A hereditary spastic paraplegia 61 hereditary spastic paraplegia 62 hereditary spastic paraplegia 63 hereditary spastic paraplegia 64 hereditary spastic paraplegia 6 hereditary spastic paraplegia 72A hereditary spastic paraplegia 73 hereditary spastic paraplegia 75 hereditary spastic paraplegia 77 hereditary spastic paraplegia 7 hereditary spastic paraplegia 8 hereditary spastic paraplegia 9A hereditary spastic paraplegia 9B hereditary spastic paraplegia hyperhomocysteinemia hypersensitivity vasculitis hypertension hypertensive heart disease hypertrophic cardiomyopathy ileitis ileocolitis intellectual disability intrinsic asthma kidney disease large intestine cancer learning disability leiomyosarcoma liver cancer liver cirrhosis lung benign neoplasm lung cancer lung carcinoma major depressive disorder malignant hypertension melancholic depression melanoma microcystic adenoma myocardial infarction myxoid leiomyosarcoma nephritis nephrosis neurodegenerative disease neurotic disorder nodular prostate nutmeg liver obesity obsolete melancholia obstructive sleep apnea papillary adenoma paraplegia partial motor epilepsy pathologic nystagmus periodontitis phobic disorder placental insufficiency polycystic ovary syndrome primary hyperaldosteronism progressive muscular atrophy prostate cancer prostate carcinoma prostatic adenoma pyoureter renovascular hypertension scleroderma secondary hypertension sensorineural hearing loss sensory peripheral neuropathy sick sinus syndrome silent myocardial infarction situs inversus skin melanoma spontaneous ocular nystagmus systemic scleroderma trichohepatoenteric syndrome 1 trichohepatoenteric syndrome tuberous sclerosis tubular adenocarcinoma type 2 diabetes mellitus vesicoureteral reflux visual epilepsy
9200	3-hydroxyacyl-CoA dehydratase 1	HACD1 CAP Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 1 cementum attachment protein	B-cell lymphoma Ehrlich tumor carcinoma Huntington's disease-like 1 Huntington's disease-like 2 Huntington's disease Laron syndrome Lyme disease Perry syndrome Streptococcus pneumonia T-cell acute lymphoblastic leukemia X-linked dilated cardiomyopathy achondroplasia acute biphenotypic leukemia acute leukemia agnosia allergic asthma allergic rhinitis androgen insensitivity syndrome anthrax disease aplastic anemia arrhythmogenic right ventricular cardiomyopathy asthma autosomal dominant limb-girdle muscular dystrophy type 1 autosomal dominant limb-girdle muscular dystrophy type 1H autosomal dominant limb-girdle muscular dystrophy type 2 autosomal dominant limb-girdle muscular dystrophy type 3 autosomal dominant limb-girdle muscular dystrophy autosomal recessive limb-girdle muscular dystrophy type 2A autosomal recessive limb-girdle muscular dystrophy type 2B autosomal recessive limb-girdle muscular dystrophy type 2C autosomal recessive limb-girdle muscular dystrophy type 2D autosomal recessive limb-girdle muscular dystrophy type 2E autosomal recessive limb-girdle muscular dystrophy type 2F autosomal recessive limb-girdle muscular dystrophy type 2G autosomal recessive limb-girdle muscular dystrophy type 2H autosomal recessive limb-girdle muscular dystrophy type 2I autosomal recessive limb-girdle muscular dystrophy type 2J autosomal recessive limb-girdle muscular dystrophy type 2K autosomal recessive limb-girdle muscular dystrophy type 2L autosomal recessive limb-girdle muscular dystrophy type 2M autosomal recessive limb-girdle muscular dystrophy type 2N autosomal recessive limb-girdle muscular dystrophy type 2O autosomal recessive limb-girdle muscular dystrophy type 2P autosomal recessive limb-girdle muscular dystrophy type 2Q autosomal recessive limb-girdle muscular dystrophy type 2S autosomal recessive limb-girdle muscular dystrophy type 2T autosomal recessive limb-girdle muscular dystrophy type 2U autosomal recessive limb-girdle muscular dystrophy type 2Y autosomal recessive limb-girdle muscular dystrophy beta thalassemia bone osteosarcoma breast adenocarcinoma breast cancer breast carcinoma cancer centronuclear myopathy cerebral infarction cerebrovascular disease cervix uteri carcinoma in situ childhood osteosarcoma clubfoot colitis common cold 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 myopathy congenital ptosis congenital structural myopathy cryptococcosis cryptorchidism developmental coordination disorder diabetes mellitus diabetic ketoacidosis 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 distal myopathy embryoma epilepsy facioscapulohumeral muscular dystrophy gastroenteritis giant cell glioblastoma glioblastoma hepatitis B hepatitis C hepatocellular carcinoma high grade glioma ileitis ileocolitis influenza intellectual disability intrinsic asthma learning disability limb-girdle muscular dystrophy liver cancer liver cirrhosis mantle cell lymphoma megaconial type congenital muscular dystrophy multidrug-resistant tuberculosis muscular dystrophy-dystroglycanopathy type B1 muscular dystrophy-dystroglycanopathy type B5 muscular dystrophy-dystroglycanopathy type B6 muscular dystrophy nemaline myopathy obsolete autosomal dominant limb-girdle muscular dystrophy type 1A obsolete autosomal dominant limb-girdle muscular dystrophy type 1B obsolete autosomal dominant limb-girdle muscular dystrophy type 1C obsolete autosomal recessive limb-girdle muscular dystrophy type 2R obsolete ymphosarcoma oculopharyngeal muscular dystrophy ophthalmoplegia osteosarcoma ovarian cancer ovarian carcinoma paroxysmal nocturnal hemoglobinuria pleural empyema pneumonia polycystic ovary syndrome polyhydramnios premature menopause primary ovarian insufficiency prostate cancer prostate carcinoma ptosis recurrent hypersomnia rigid spine muscular dystrophy 1 scoliosis sick sinus syndrome steatotic liver disease stomach cancer stomach carcinoma substance abuse substance-related disorder thalassemia thymic carcinoma thymoma tuberculosis type 2 diabetes mellitus type C thymoma vasomotor rhinitis viral infectious disease wheat allergy
9215	LARGE xylosyl- and glucuronyltransferase 1	LARGE1 KIAA0609 like-acetylglucosaminyltransferase	Axenfeld-Rieger syndrome Becker muscular dystrophy Bell's palsy Dandy-Walker syndrome Duchenne muscular dystrophy Fukuyama congenital muscular dystrophy Joubert syndrome Laron syndrome Miller-Dieker lissencephaly syndrome Peters anomaly Walker-Warburg syndrome achondroplasia acoustic neuroma agnosia amphetamine abuse angiomatous meningioma atypical chronic myeloid leukemia, BCR-ABL1 negative 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 benign meningioma bilateral optic nerve hypoplasia blindness buphthalmos cancer cataract centronuclear myopathy cerebral convexity meningioma chronic monocytic leukemia clear cell meningioma cleft lip cleft palate coloboma communicating hydrocephalus complex cortical dysplasia with other brain malformations 1 complex cortical dysplasia with other brain malformations 7 cone-rod dystrophy 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 muscular dystrophy-dystroglycanopathy type A1 congenital muscular dystrophy-dystroglycanopathy type A6 congenital muscular dystrophy congenital myopathy 1A congenital myopathy 4A congenital structural myopathy cornea plana cortical dysplasia-focal epilepsy syndrome cryptorchidism depressive disorder developmental coordination disorder diabetes mellitus dissociated nystagmus distal myopathy endomyocardial fibrosis epilepsy facial nerve disease facial paralysis facioscapulohumeral muscular dystrophy 1 facioscapulohumeral muscular dystrophy familial periodic paralysis fibrous meningioma fundus albipunctatus fundus dystrophy glaucoma hepatocellular carcinoma holoprosencephaly 1 holoprosencephaly hydranencephaly hydrocephalus hydrophthalmos hypertropia idiopathic scoliosis imperforate anus intellectual disability intraorbital meningioma intraventricular meningioma isolated cleft palate isolated elevated serum creatine phosphokinase levels learning disability limb-girdle muscular dystrophy lissencephaly liver cancer lymphoid leukemia lymphoplasmacyte-rich meningioma major depressive disorder mechanical strabismus megaconial type congenital muscular dystrophy megalocornea melancholic depression meningioma meningocele meningothelial meningioma microcephaly microcystic meningioma microphthalmia muscular dystrophy-dystroglycanopathy type B1 muscular dystrophy-dystroglycanopathy type B5 muscular dystrophy-dystroglycanopathy type B6 muscular dystrophy myeloid leukemia myofibrillar myopathy 1 myofibrillar myopathy 3 myopathy myopia nemaline myopathy obsolete autosomal dominant limb-girdle muscular dystrophy type 1A obsolete autosomal dominant limb-girdle muscular dystrophy type 1B obsolete autosomal dominant limb-girdle muscular dystrophy type 1C obsolete autosomal recessive limb-girdle muscular dystrophy type 2R obsolete melancholia obstructive hydrocephalus oculopharyngeal muscular dystrophy olfactory groove meningioma ophthalmoplegia optic atrophy parasagittal meningioma pathologic nystagmus peripheral retinal degeneration pituitary adenoma pontocerebellar hypoplasia type 2D pontocerebellar hypoplasia type 7 pontocerebellar hypoplasia type 8 pontocerebellar hypoplasia type 9 psammomatous meningioma recurrent corneal erosion renal agenesis retinal detachment retinitis pigmentosa rhabdomyosarcoma rigid spine muscular dystrophy 1 rippling muscle disease 2 scoliosis secretory meningioma senile degeneration of brain septooptic dysplasia short-rib thoracic dysplasia 14 with polydactyly speech disorder spinal meningioma spontaneous ocular nystagmus strabismus syndromic X-linked intellectual disability 94 syndromic X-linked intellectual disability Najm type transitional meningioma type 2 diabetes mellitus visual epilepsy
9245	glucosaminyl (N-acetyl) transferase 3, mucin type	GCNT3 C2/4GnT C2GnT-M C2GnT2	cancer colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma embryoma hepatocellular carcinoma large intestine cancer liver cancer lung cancer lung non-small cell carcinoma melanoma ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma skin melanoma
9254	calcium voltage-gated channel auxiliary subunit alpha2delta 2	CACNA2D2 KIAA0558 alpha2delta-2 gene 26	absence epilepsy agnosia alternating hemiplegia of childhood autonomic neuropathy bipolar I disorder brain cancer breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer central nervous system disease cerebellar ataxia cerebellar disease cervical adenocarcinoma cervical cancer cervix carcinoma cervix uteri carcinoma in situ childhood absence epilepsy choreatic disease colorectal cancer colorectal carcinoma congenital nystagmus coronary artery disease developmental and epileptic encephalopathy 1 developmental and epileptic encephalopathy 21 dissociated nystagmus embryoma epilepsy hypertropia idiopathic generalized epilepsy large intestine cancer lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma maple syrup urine disease mechanical strabismus nasopharynx carcinoma nervous system disease ophthalmoplegia pathologic nystagmus primary cutaneous amyloidosis prostate cancer prostate carcinoma sensorineural hearing loss sick sinus syndrome spontaneous ocular nystagmus strabismus syndromic X-linked intellectual disability type 10
9331	beta-1,4-galactosyltransferase 6	B4GALT6 UDP-Gal:glucosylceramide beta-1,4-galactosyltransferase beta4GalT-VI	colorectal cancer colorectal carcinoma large intestine cancer multiple sclerosis skin disease
9334	beta-1,4-galactosyltransferase 5	B4GALT5 beta4-GalT IV beta4GalT-V	cancer central nervous system cancer colorectal cancer colorectal carcinoma diabetes mellitus diabetic ketoacidosis embryoma gliosarcoma high grade glioma large intestine cancer mixed glioma multiple sclerosis obesity type 2 diabetes mellitus
9348	N-deacetylase and N-sulfotransferase 3	NDST3 HSST3	Balo concentric sclerosis adrenoleukodystrophy anxiety disorder autism spectrum disorder azoospermia central nervous system disease depressive disorder generalized anxiety disorder intellectual disability major depressive disorder melancholic depression narcolepsy neurotic disorder obsolete melancholia schizophrenia
9365	klotho	KL KLA alpha-klotho	Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease B-cell lymphoma Burkitt lymphoma Cockayne syndrome Cornelia de Lange syndrome Dubowitz syndrome Duchenne muscular dystrophy Hodgkin's granuloma Hodgkin's lymphoma, lymphocytic depletion Hodgkin's lymphoma, lymphocytic-histiocytic predominance Hodgkin's lymphoma, mixed cellularity Hodgkin's lymphoma Huntington's disease-like 1 Huntington's disease-like 2 Huntington's disease IgA glomerulonephritis Kummell's disease 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 Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Pick's disease Prader-Willi syndrome Prinzmetal angina Reye syndrome Robinow syndrome Seckel syndrome Silver-Russell syndrome Smith-McCort dysplasia Werner syndrome X-linked Aarskog syndrome X-linked dominant hypophosphatemic rickets Zollinger-Ellison syndrome abdominal obesity-metabolic syndrome 1 acromegaly actinic keratosis acute myocardial infarction acute pancreatitis adenocarcinoma adenoma adult respiratory distress syndrome alcohol dependence alcohol use disorder alternating hemiplegia of childhood amnestic disorder amyotrophic lateral sclerosis androgen insensitivity syndrome anemia aortic valve disease 1 aortic valve disease aortic valve stenosis arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy atherosclerosis atrial fibrillation autonomic neuropathy autosomal dominant Robinow syndrome 1 autosomal dominant Robinow syndrome 2 autosomal dominant Robinow syndrome 3 autosomal dominant polycystic kidney disease autosomal recessive Robinow syndrome bacterial infectious disease bacterial sepsis beta thalassemia bicuspid aortic valve disease bipolar disorder bladder carcinoma bone disease breast cancer breast carcinoma bronchus cancer bronchus carcinoma calcinosis calcium metabolism disease cancer cardiomyopathy cardiovascular system disease carotid artery disease carotid artery thrombosis carotid stenosis cartilage disease central nervous system disease cerebral degeneration cerebral infarction cerebrovascular disease cervical adenocarcinoma cervical cancer cervix carcinoma chondrocalcinosis chondrodysplasia-pseudohermaphroditism syndrome chromophobe renal cell carcinoma chronic fatigue syndrome chronic kidney disease chronic obstructive pulmonary disease clear cell renal cell carcinoma colitis collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma cone-rod dystrophy congestive heart failure connective tissue disease coronary artery disease coronary stenosis coronary thrombosis cribriform carcinoma dedifferentiated liposarcoma dementia demyelinating disease depressive disorder diabetes mellitus diabetic ketoacidosis diffuse large B-cell lymphoma dilated cardiomyopathy 1A dilated cardiomyopathy disease of metabolism dysthymic disorder embryoma encephalitis encephalomyelitis end stage renal disease endomyocardial fibrosis enthesopathy epilepsy essential hypertension exostosis familial adenomatous polyposis familial hyperlipidemia familial nephrotic syndrome follicular adenoma fundus albipunctatus gastroenteritis giant cell glioblastoma glioblastoma glomerulonephritis granular cell carcinoma growth hormone secreting pituitary adenoma head and neck squamous cell carcinoma heart disease hematologic cancer hepatocellular carcinoma high grade glioma hypercalcemia hyperglycemia hyperinsulinism hyperparathyroidism hyperphosphatemia hyperphosphatemic familial tumoral calcinosis hyperpituitarism hypertension hypertrophic cardiomyopathy hypoglycemia hypophosphatemia idiopathic interstitial pneumonia idiopathic pulmonary fibrosis ileitis ileocolitis infertility insulinoma intellectual disability intracranial embolism invasive ductal carcinoma kidney cancer kidney disease kidney failure kidney hypertrophy kwashiorkor large intestine cancer late onset Parkinson's disease learning disability lipoid nephrosis liposarcoma liver cancer liver cirrhosis localized scleroderma lung benign neoplasm lung cancer lung carcinoma lung large cell carcinoma lung non-small cell carcinoma lung small cell carcinoma lung squamous cell carcinoma macrocytic anemia major depressive disorder marasmus melancholic depression melanoma microcephalic osteodysplastic primordial dwarfism type I microcephalic osteodysplastic primordial dwarfism type II microcystic adenoma microphthalmia middle cerebral artery infarction monoclonal gammopathy of uncertain significance mood disorder multiple myeloma multiple sclerosis muscular dystrophy musculoskeletal system disease myelitis myocardial infarction myositis nephritis nephrocalcinosis nephrolithiasis nephrosis nephrotic syndrome nervous system disease neurodegenerative disease neurotic disorder newborn respiratory distress syndrome nonpapillary renal cell carcinoma nutmeg liver nutrition disease obesity obsolete Matthew-Wood syndrome obsolete melancholia obsolete type 1 diabetes mellitus 9 obsolete ymphosarcoma obstructive sleep apnea osteitis fibrosa osteoarthritis osteomalacia osteonecrosis osteoporosis ovarian cancer ovarian carcinoma pancreatic adenocarcinoma pancreatic cancer pancreatic carcinoma pancreatitis papillary adenoma papillary renal cell carcinoma parathyroid adenoma parathyroid carcinoma parathyroid gland disease periarthritis phosphorus metabolism disease placental insufficiency pleomorphic liposarcoma polycystic kidney disease 1 porphyria cutanea tarda postinflammatory pulmonary fibrosis premature menopause priapism primary hyperparathyroidism primary ovarian insufficiency primary pulmonary hypertension progeria progressive muscular atrophy prostate cancer prostate carcinoma protein-energy malnutrition pulmonary emphysema pulmonary fibrosis pulmonary large cell neuroendocrine carcinoma pyoureter reflex sympathetic dystrophy relapsing-remitting multiple sclerosis renal carcinoma renal cell carcinoma renal osteodystrophy retinal disease retinitis pigmentosa 1 retinitis pigmentosa retinitis retrograde amnesia rheumatoid arthritis rickets sarcomatoid renal cell carcinoma schizophrenia scleroderma seborrheic keratosis secondary hyperparathyroidism sickle cell anemia silent myocardial infarction skin disease skin melanoma spondyloarthropathy spondylosis squamous cell carcinoma systemic scleroderma tendinitis thyroid adenoma thyroid cancer thyroid gland carcinoma thyroid gland follicular carcinoma tongue squamous cell carcinoma tubular adenocarcinoma type 1 diabetes mellitus 10 type 1 diabetes mellitus 11 type 1 diabetes mellitus 12 type 1 diabetes mellitus 13 type 1 diabetes mellitus 15 type 1 diabetes mellitus 17 type 1 diabetes mellitus 18 type 1 diabetes mellitus 19 type 1 diabetes mellitus 20 type 1 diabetes mellitus 21 type 1 diabetes mellitus 22 type 1 diabetes mellitus 23 type 1 diabetes mellitus 24 type 1 diabetes mellitus 2 type 1 diabetes mellitus 3 type 1 diabetes mellitus 4 type 1 diabetes mellitus 5 type 1 diabetes mellitus 6 type 1 diabetes mellitus 7 type 1 diabetes mellitus 8 type 1 diabetes mellitus type 2 diabetes mellitus uremia ureteral obstruction uric acid nephrolithiasis urinary bladder cancer vascular dementia vascular disease
9370	adiponectin, C1Q and collagen domain containing	ADIPOQ	Alzheimer's disease Behcet's disease Crohn's disease Graves' disease Kawasaki disease Mycobacterium avium complex disease Rett syndrome amyloidosis ankylosing spondylitis atherosclerosis autoimmune hepatitis biliary atresia bipolar disorder brain infarction breast cancer cardiomyopathy cardiovascular system disease chronic obstructive pulmonary disease colitis congestive heart failure coronary aneurysm coronary artery disease dementia diabetic retinopathy diffuse scleroderma end stage renal disease familial hyperlipidemia familial mediterranean fever gestational diabetes graft-versus-host disease hepatocellular carcinoma hyperinsulinism hyperthyroidism inflammatory bowel disease liver cirrhosis metabolic dysfunction-associated steatotic liver disease multiple sclerosis myocardial infarction obesity peripheral artery disease polycystic ovary syndrome primary open angle glaucoma proliferative diabetic retinopathy prostate adenocarcinoma pulmonary tuberculosis rheumatoid arthritis sleep apnea steatotic liver disease tongue squamous cell carcinoma type 1 diabetes mellitus type 2 diabetes mellitus ulcerative colitis vascular disease
9374	palmitoyl-protein thioesterase 2	PPT2	cancer cerebellar ataxia cerebellar disease embryoma histiocytosis membranous glomerulonephritis multiple myeloma multiple sclerosis neuroblastoma 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
9380	glyoxylate and hydroxypyruvate reductase	GRHPR PH2 primary hyperoxaluria type 2	atypical hemolytic-uremic syndrome calcinosis calcium metabolism disease chronic kidney disease hemolytic-uremic syndrome hypercalcemia kidney failure nephrocalcinosis nephrolithiasis phosphorus metabolism disease primary hyperoxaluria type 2 primary hyperoxaluria prostate cancer prostate carcinoma ureteral obstruction uric acid nephrolithiasis urinary tract obstruction
9382	component of oligomeric golgi complex 1	COG1 KIAA1381	Baraitser-Winter syndrome Burkitt lymphoma Fraser syndrome Goldenhar syndrome Moebius syndrome Muenke Syndrome Nance-Horan syndrome Richter's syndrome Sakati-Nyhan syndrome Warburg micro syndrome 1 Warburg micro syndrome 2 Warburg micro syndrome 3 Warburg micro syndrome 4 Weissenbacher-Zweymuller syndrome anemia branchiootic syndrome cerebral degeneration cerebrocostomandibular syndrome chronic lymphocytic leukemia clubfoot congenital disorder of glycosylation Ii congenital disorder of glycosylation type I congenital disorder of glycosylation type II congenital disorder of glycosylation type IIg cryptorchidism hematologic cancer hydronephrosis hypospadias kidney failure macrocytic anemia orofaciodigital syndrome I orofaciodigital syndrome X placental insufficiency primary pulmonary hypertension scoliosis sensorineural hearing loss thrombocytopenia
9388	lipase G, endothelial type	LIPG EDL	Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease Duchenne muscular dystrophy Pick's disease Reye syndrome abdominal obesity-metabolic syndrome 1 acute chest syndrome acute myocardial infarction allergic asthma aortic atherosclerosis arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease asthma atherosclerosis autistic disorder breast cancer breast carcinoma cancer cardiovascular system disease cerebral degeneration cerebral infarction cholesterol-ester transfer protein deficiency coronary artery disease coronary thrombosis dementia depressive disorder diabetes mellitus diabetic cataract diabetic retinopathy embryoma embryonal cancer endometriosis of uterus endometriosis essential hypertension familial hypercholesterolemia familial retinoblastoma germ cell and embryonal cancer germ cell cancer germinoma gestational diabetes heart disease hemolytic-uremic syndrome hyperalphalipoproteinemia 1 hypertension intrinsic asthma muscular dystrophy myocardial infarction nutmeg liver obesity ocular cancer placental insufficiency retinoblastoma sickle cell anemia silent myocardial infarction trilateral retinoblastoma type 2 diabetes mellitus uveal melanoma vascular disease
9394	heparan sulfate 6-O-sulfotransferase 1	HS6ST1	Kallmann syndrome Potter's syndrome Sheehan syndrome achromatopsia acquired color blindness anxiety disorder bilateral renal aplasia blindness blue color blindness cartilage-hair hypoplasia clubfoot color blindness congenital nystagmus congenital ptosis cryptorchidism depressive disorder diabetes mellitus diabetic ketoacidosis dissociated nystagmus dysthymic disorder epilepsy eunuchism generalized anxiety disorder gynecomastia hypertrophy of breast 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 15 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 ichthyosis idiopathic interstitial pneumonia idiopathic pulmonary fibrosis impotence infant gynecomastia 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 major depressive disorder melancholic depression mucopolysaccharidosis IV multiple epiphyseal dysplasia neurotic disorder obesity obsolete melancholia osteochondrodysplasia osteoporosis panhypopituitarism paraplegia pathologic nystagmus premature ejaculation psychologic dyspareunia ptosis red color blindness red-green color blindness schizophrenia sensorineural hearing loss septooptic dysplasia spontaneous ocular nystagmus type 2 diabetes mellitus visual epilepsy
9415	fatty acid desaturase 2	FADS2 D6D DES6 FADSD6 SLL0262 TU13 delta-6-desaturase	Crohn's colitis Crohn's disease Fabry disease Wolman disease abdominal obesity-metabolic syndrome 1 acquired immunodeficiency syndrome acute myocardial infarction age related macular degeneration alcohol use disorder allergic asthma alopecia arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease asthma atherosclerosis atopic dermatitis atrial fibrillation attention deficit hyperactivity disorder autism spectrum disorder autistic disorder bipolar I disorder bipolar disorder breast cancer breast carcinoma cancer cardiovascular system disease cerebral infarction cerebrovascular disease chronic kidney disease chylomicron retention disease colon cancer colonic benign neoplasm colorectal cancer colorectal carcinoma congenital hypothyroidism congestive heart failure coronary artery disease coronary thrombosis degeneration of macula and posterior pole depressive disorder dermatitis diabetes mellitus diabetic ketoacidosis dilated cardiomyopathy discrete subaortic stenosis embryoma giant cell glioblastoma glioblastoma glomerulonephritis heart disease hemochromatosis type 1 hemochromatosis hepatitis hepatocellular carcinoma high grade glioma human immunodeficiency virus infectious disease hypothyroidism inflammatory bowel disease 1 inflammatory bowel disease intrinsic asthma kidney disease kwashiorkor large intestine cancer laryngeal squamous cell carcinoma lipid metabolism disorder lipid storage disease liver cancer lung benign neoplasm lung carcinoma macular degeneration major depressive disorder marasmus melancholic depression myocardial infarction myxedema nephritis nephrosis neurotic disorder nutmeg liver nutrition disease obesity obsolete melancholia polycystic ovary syndrome progressive pseudorheumatoid arthropathy of childhood protein-energy malnutrition psoriatic arthritis pyoureter rheumatoid arthritis schizophrenia silent myocardial infarction skin disease steatotic liver disease stomach cancer stomach carcinoma type 1 diabetes mellitus type 2 diabetes mellitus ulcerative colitis vitiligo

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