GlyCosmos Portal

Homo sapiens (human)

Summary

Taxonomy ID: 9606
PubChem Taxonomy: 9606

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

Displaying entries **526 - 550** of **1582** in total

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Gene ID	Gene Name	Gene Symbol	Disease Ontology ▲
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
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
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
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
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
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
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
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
5476	cathepsin A	CTSA carboxypeptidase C carboxypeptidase Y-like kininase carboxypeptidase-L deamidase lysosomal carboxypeptidase A lysosomal protective protein urinary kininase	CADASIL 1 CADASIL Fabry disease GM1 gangliosidosis type 1 GM1 gangliosidosis Laron syndrome abdominal aortic aneurysm achondroplasia acquired immunodeficiency syndrome adult-onset leukoencephalopathy with axonal spheroids and pigmented glia allergic asthma aortic aneurysm aortic valve disease 2 aortic valve stenosis aspartylglucosaminuria asthma bone giant cell tumor cancer cavernous hemangioma chorioangioma chylomicron retention disease colitis colorectal cancer colorectal carcinoma corneal dystrophy embryoma epilepsy essential hypertension fucosidosis galactosialidosis gastroenteritis genital herpes glomus tumor glycoproteinosis hemangioma herpes simplex histiocytoid hemangioma human immunodeficiency virus infectious disease hyperglycemia hypertension idiopathic interstitial pneumonia idiopathic pulmonary fibrosis ileitis ileocolitis inflammatory breast carcinoma intellectual disability intramuscular hemangioma intrinsic asthma invasive ductal carcinoma kidney failure large intestine cancer learning disability lipid storage disease lung adenocarcinoma lung cancer lymphangioma lysosomal storage disease mucopolysaccharidosis I mucopolysaccharidosis II mucopolysaccharidosis III mucopolysaccharidosis IV mucopolysaccharidosis Ih mucopolysaccharidosis VI mucopolysaccharidosis type IVB mucopolysaccharidosis multiple epiphyseal dysplasia oophoritis osteochondrodysplasia parametritis pelvic inflammatory disease pneumonia pyosalpinx recurrent corneal erosion salpingitis sensorineural hearing loss shigellosis steatotic liver disease uremia visual epilepsy
9487	phosphatidylinositol glycan anchor biosynthesis class L	PIGL N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase N-acetylglucosaminylphosphatidylinositol deacetylase PIG-L	CAKUT2 CHIME syndrome Cogan syndrome Hailey-Hailey disease Hirschsprung's disease Rothmund-Thomson syndrome T-cell acute lymphoblastic leukemia Unverricht-Lundborg syndrome acquired hyperkeratosis acute biphenotypic leukemia acute leukemia acute lymphoblastic leukemia amyotrophic lateral sclerosis anodontia autistic disorder autosomal dominant cutis laxa 1 autosomal dominant cutis laxa 2 autosomal dominant cutis laxa 3 autosomal dominant cutis laxa autosomal recessive cutis laxa type IA autosomal recessive cutis laxa type IB autosomal recessive cutis laxa type II classic type autosomal recessive cutis laxa type IIA autosomal recessive cutis laxa type IIB autosomal recessive cutis laxa type IIC autosomal recessive cutis laxa type IID autosomal recessive cutis laxa type IIIA autosomal recessive cutis laxa type IIIB blepharospasm capillary disease cerebral degeneration chronic ulcer of skin cleft palate coloboma congenital ptosis craniosynostosis cutis laxa dextro-looped transposition of the great arteries diffuse interstitial keratitis disease of mental health early myoclonic encephalopathy epilepsy esotropia focal hand dystonia granuloma annulare hereditary hemorrhagic telangiectasia hydronephrosis hyperopia hypertropia hypotrichosis ichthyosis intellectual disability isolated cleft palate learning disability lymphoblastic lymphoma mal de Meleda mechanical strabismus monocular esotropia multiple types of congenital heart defects 6 nonepidermolytic palmoplantar keratoderma obsolete dextro-looped transposition of the great arteries 1 oligohydramnios ophthalmoplegia palmoplantar keratosis progressive muscular atrophy psychotic disorder ptosis recurrent corneal erosion restrictive dermopathy scoliosis sensorineural hearing loss strabismus syndromic X-linked intellectual disability 94 telangiectasis tetralogy of Fallot tooth agenesis ventricular septal defect visual epilepsy
2591	polypeptide N-acetylgalactosaminyltransferase 3	GALNT3 GalNAc-T3 HFTC HHS polypeptide GalNAc transferase 3	CHARGE syndrome X-linked dyskeratosis congenita adenocarcinoma adenoma angioid streaks arteriosclerotic cardiovascular disease atherosclerosis autosomal recessive hypophosphatemic rickets bronchus cancer bronchus carcinoma calcinosis calcium metabolism disease cancer carcinoma cerebral infarction cerebrovascular disease chondrocalcinosis chromophobe renal cell carcinoma chronic kidney disease clear cell renal cell carcinoma collecting duct carcinoma colorectal cancer colorectal carcinoma coronary artery disease cribriform carcinoma dental enamel hypoplasia dental pulp calcification dentin dysplasia diabetes mellitus diabetic ketoacidosis disease of metabolism dyskeratosis congenita embryoma endometriosis of uterus endometriosis gallbladder cancer gallbladder carcinoma granular cell carcinoma hypercalcemia hyperostosis hyperphosphatemia hyperphosphatemic familial tumoral calcinosis hypotrichosis 1 hypotrichosis large intestine cancer lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma melanoma microphthalmia musculoskeletal system disease nephrocalcinosis nodular prostate nutmeg liver obsolete Matthew-Wood syndrome obsolete type 1 diabetes mellitus 9 osteoarthritis osteoporosis ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma papillary renal cell carcinoma phosphorus metabolism disease prostate cancer prostate carcinoma prostatic adenoma pulp degeneration renal carcinoma renal cell carcinoma sarcomatoid carcinoma sarcomatoid renal cell carcinoma skin disease skin melanoma squamous cell 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 viral infectious disease
6120	ribulose-5-phosphate-3-epimerase	RPE	CINCA Syndrome Doyne honeycomb retinal dystrophy Leber congenital amaurosis 1 Leber congenital amaurosis 2 Sorsby's fundus dystrophy Stargardt disease Sveinsson chorioretinal atrophy Usher syndrome type 1 Vogt-Koyanagi-Harada disease Zika fever age related macular degeneration atrial fibrillation basal laminar drusen blindness cancer cardiovascular system disease choroideremia chronic recurrent multifocal osteomyelitis ciliary body disease colon cancer colonic benign neoplasm colorectal cancer cone-rod dystrophy degeneration of macula and posterior pole diabetes mellitus diabetic cataract diabetic macular edema diabetic retinopathy embryoma eye disease familial adenomatous polyposis 1 familial adenomatous polyposis familial retinoblastoma fundus albipunctatus fundus dystrophy glycogen storage disease II heart disease hepatocellular carcinoma hole retinal cyst hyperopia iris disease islet cell tumor large intestine cancer liver cancer liver carcinoma locked-in syndrome macular degeneration macular holes melanoma myopia neovascular inflammatory vitreoretinopathy neurodegenerative disease panuveitis peripheral retinal degeneration phototoxic dermatitis preretinal fibrosis proliferative diabetic retinopathy quadriplegia retinal detachment retinal disease retinal lattice degeneration retinal perforation retinitis pigmentosa 30 retinitis pigmentosa retinitis retinoblastoma retinoschisis skin melanoma trilateral retinoblastoma type 2 diabetes mellitus uveitis vitelliform macular dystrophy
622	3-hydroxybutyrate dehydrogenase 1	BDH1 SDR9C1 short chain dehydrogenase/reductase family 9C, member 1	COVID-19 Graves' disease X-linked dilated cardiomyopathy breast cancer cancer central nervous system cancer congestive heart failure dilated cardiomyopathy 1A 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 gliosarcoma hepatitis high grade glioma hyperthyroidism mixed glioma nicotine dependence thyrotoxicosis
1800	dipeptidase 1	DPEP1	Camurati-Engelmann disease Crohn's colitis Crohn's disease Duchenne muscular dystrophy Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease SAPHO syndrome X-linked lymphoproliferative syndrome 2 adenoma amyloidosis ankylosing spondylitis arthritis arthropathy 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 bladder calculus bone cancer bone osteosarcoma breast cancer breast carcinoma cancer cardiovascular system disease central nervous system cancer childhood osteosarcoma cholecystolithiasis choledocholithiasis cholelithiasis chronic kidney disease colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma congenital muscular dystrophy distal myopathy dystonia embryoma epithelioid leiomyosarcoma essential hypertension facioscapulohumeral muscular dystrophy familial adenomatous polyposis 1 familial adenomatous polyposis familial hemiplegic migraine 2 familial hemiplegic migraine fibrodysplasia ossificans progressiva focal hand dystonia follicular adenoma generalized dystonia gliosarcoma heart disease hepatoblastoma hepatocellular carcinoma high grade glioma hypertension hyperuricemia inflammatory bowel disease 1 inflammatory bowel disease influenza interstitial nephritis invasive ductal carcinoma large intestine cancer laryngeal disease leiomyosarcoma lepromatous leprosy limb-girdle muscular dystrophy metachondromatosis microcystic adenoma microphthalmia mixed glioma mucopolysaccharidosis II mucopolysaccharidosis III mucopolysaccharidosis IV mucopolysaccharidosis VI mucopolysaccharidosis muscular dystrophy myofibrillar myopathy 1 myofibrillar myopathy 3 myositis ossificans myxoid leiomyosarcoma neuroendocrine carcinoma obsolete Matthew-Wood syndrome obsolete autosomal dominant limb-girdle muscular dystrophy type 1A obsolete autosomal dominant limb-girdle muscular dystrophy type 1B obsolete autosomal dominant limb-girdle muscular dystrophy type 1C obsolete autosomal recessive limb-girdle muscular dystrophy type 2R oculopharyngeal muscular dystrophy osteoarthritis osteoporosis osteosarcoma pancreatic adenocarcinoma pancreatic cancer pancreatic carcinoma pancreatic ductal adenocarcinoma papillary adenoma periostitis peritoneal carcinoma proliferative diabetic retinopathy prostate cancer prostate carcinoma pulmonary embolism pyelitis pyelonephritis rheumatoid arthritis rippling muscle disease 2 secondary Parkinson disease secondary hypertrophic osteoarthropathy severe nonproliferative diabetic retinopathy stone in bladder diverticulum thyroid adenoma thyroid cancer thyroid gland carcinoma thyroid gland follicular carcinoma tracheal disease ulcerative colitis
6916	thromboxane A synthase 1	TBXAS1 CYP5 CYP5A1 THAS TS TXAS TXS cytochrome P450, family 5, subfamily A, polypeptide 1	Camurati-Engelmann disease Ghosal hematodiaphyseal syndrome acute myocardial infarction acute necrotizing pancreatitis alcoholic hepatitis alcoholic liver cirrhosis allergic asthma anemia arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease asthma ataxia telangiectasia atherosclerosis autosomal recessive osteopetrosis 7 benign mesothelioma brain infarction brain stem infarction breast cancer breast carcinoma cardiovascular system disease cerebral artery occlusion cerebral infarction cerebrovascular disease coronary artery disease coronary thrombosis essential hypertension glomerulonephritis heart disease hydronephrosis hypertension inflammatory bowel disease 1 inflammatory bowel disease intrinsic asthma kidney disease liver cirrhosis lung benign neoplasm macrocytic anemia malignant mesothelioma malignant pleural mesothelioma membranous glomerulonephritis myelofibrosis myocardial infarction nephritis osteopetrosis osteosclerosis pancytopenia pituitary adenoma pituitary cancer pituitary carcinoma platelet-type bleeding disorder 14 prostate cancer prostate carcinoma pulmonary embolism schizophrenia silent myocardial infarction speech disorder thrombocytopenia thrombosis ulcerative colitis urinary bladder cancer
55858	transmembrane protein 165	TMEM165 GDT1 SLC64A1 TMPT27 TPA regulated locus TPARL	Camurati-Engelmann disease Laron syndrome Marfan syndrome X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 achondroplasia acoustic neuroma amelogenesis imperfecta hypomaturation type 2A2 amelogenesis imperfecta hypomaturation type 2A3 amelogenesis imperfecta hypomaturation type 2A4 amelogenesis imperfecta hypomaturation type 2A5 amelogenesis imperfecta type 1A amelogenesis imperfecta type 1B amelogenesis imperfecta type 1C amelogenesis imperfecta type 1E amelogenesis imperfecta type 1F amelogenesis imperfecta type 1G amelogenesis imperfecta type 1H amelogenesis imperfecta type 2A1 amelogenesis imperfecta type 3A amelogenesis imperfecta type 4 amelogenesis imperfecta cancer cellular schwannoma chondrodysplasia punctata congenital disorder of glycosylation type II congenital disorder of glycosylation type IIk congenital disorder of glycosylation dentin dysplasia dentinogenesis imperfecta embryoma hepatocellular carcinoma isolated elevated serum creatine phosphokinase levels liver cancer melanotic neurilemmoma meningioma neurilemmoma neurofibromatosis osteoporosis pituitary adenoma plexiform schwannoma scoliosis situs inversus tuberous sclerosis vestibular schwannomatosis
23417	malonyl-CoA decarboxylase	MLYCD MCD hMCD	Castleman disease Kaposi's sarcoma Kimura disease Laron syndrome Marfan syndrome Meesmann corneal dystrophy Schmid metaphyseal chondrodysplasia Senior-Loken syndrome achondroplasia acquired immunodeficiency syndrome acute kidney tubular necrosis adult lymphoma autoimmune lymphoproliferative syndrome type 2A autoimmune lymphoproliferative syndrome type 2B autoimmune lymphoproliferative syndrome type 3 autoimmune lymphoproliferative syndrome cancer cardiomyopathy central nervous system lymphoma childhood lymphoma choline deficiency disease diabetes mellitus diarrhea endomyocardial fibrosis epilepsy essential hypertension familial hypertrophic cardiomyopathy familial nephrotic syndrome focal segmental glomerulosclerosis glomerulonephritis human immunodeficiency virus infectious disease hypertension hypertrophic cardiomyopathy hypoglycemia inherited metabolic disorder kidney disease lactic acidosis lipoid nephrosis liver cirrhosis lymphoma lymphoproliferative syndrome 1 lymphoproliferative syndrome 2 macular corneal dystrophy membranous glomerulonephritis metabolic dysfunction-associated steatotic liver disease microphthalmia multicentric Castleman disease nasopharynx carcinoma nephritis nephronophthisis 1 nephronophthisis nephrosclerosis nephrosis nephrotic syndrome normal pressure hydrocephalus obesity obsolete Matthew-Wood syndrome obsolete constipation obsolete ymphosarcoma oral tuberculosis primary immunodeficiency disease pyoureter situs inversus steatotic liver disease systemic Epstein-Barr virus positive T-cell lymphoma of childhood tuberculosis tuberous sclerosis 1 tuberous sclerosis type 2 diabetes mellitus visual epilepsy
55331	alkaline ceramidase 3	ACER3 APHC FLJ11238 alkaline phytoceramidase	Cauda equina syndrome Laron syndrome achondroplasia acute myeloid leukemia cerebellar ataxia cerebellar disease cerebral degeneration dystonia hepatocellular carcinoma intellectual disability learning disability leukodystrophy liver cancer melanoma metabolic dysfunction-associated steatohepatitis neurogenic bladder neuropathy peripheral nervous system disease skin melanoma
91949	component of oligomeric golgi complex 7	COG7	Cauda equina syndrome Laron syndrome achondroplasia autosomal recessive congenital ichthyosis 10 autosomal recessive congenital ichthyosis 1 autosomal recessive congenital ichthyosis 2 autosomal recessive congenital ichthyosis 3 autosomal recessive congenital ichthyosis 4A autosomal recessive congenital ichthyosis 5 autosomal recessive congenital ichthyosis 6 autosomal recessive congenital ichthyosis 7 autosomal recessive congenital ichthyosis 8 autosomal recessive congenital ichthyosis 9 autosomal recessive congenital ichthyosis cardiomyopathy cerebral degeneration congenital disorder of glycosylation type II congenital disorder of glycosylation type IIe congenital disorder of glycosylation congenital heart disease congestive heart failure endomyocardial fibrosis esophagitis familial hypertrophic cardiomyopathy gastroesophageal reflux disease genetic disease hydronephrosis hypertrichosis hypertrophic cardiomyopathy hypoglycemia isolated elevated serum creatine phosphokinase levels microcephaly neurogenic bladder obsolete congenital ichthyosiform erythroderma peptic esophagitis placental insufficiency sensorineural hearing loss
64834	ELOVL fatty acid elongase 1	ELOVL1 Ssc1	Cauda equina syndrome acanthosis nigricans acrodermatitis adrenoleukodystrophy cancer dermatitis dry eye syndrome hyperglycemia neurogenic bladder obsolete asthenopia xerophthalmia
2645	glucokinase	GCK HK4 hexokinase 4	Chagas disease Fanconi anemia complementation group C Fanconi anemia Laron syndrome Marfan syndrome Werner syndrome Zollinger-Ellison syndrome abdominal obesity-metabolic syndrome 1 achondroplasia acute chest syndrome adult-onset Still's disease agnosia apraxia arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy atherosclerosis autoimmune disease autoimmune lymphoproliferative syndrome bronchus cancer bronchus carcinoma cancer cardiovascular system disease chronic fatigue syndrome congenital heart disease congenital ptosis coronary artery disease diabetes mellitus diabetic cataract diabetic ketoacidosis diabetic retinopathy disease of metabolism embryoma encephalitis encephalomyelitis endocrine pancreas disease epilepsy essential hypertension familial adenomatous polyposis 1 familial adenomatous polyposis familial hyperinsulinemic hypoglycemia 1 familial hyperinsulinemic hypoglycemia 2 familial hyperinsulinemic hypoglycemia 3 generalized anxiety disorder gestational diabetes glomerulonephritis glucose intolerance glucose metabolism disease heart disease hepatocellular carcinoma hyperglycemia hyperinsulinemic hypoglycemia hyperinsulinism hypertension hypoglycemia hypoglycemic coma immune system disease insulinoma intellectual disability kidney disease learning disability leishmaniasis liver cancer liver carcinoma liver cirrhosis lung benign neoplasm lung cancer lung carcinoma maturity-onset diabetes of the young type 2 maturity-onset diabetes of the young type 3 maturity-onset diabetes of the young myelitis myotonic dystrophy type 1 myotonic dystrophy type 2 neonatal diabetes nephritis nephrosis neuropathy nutmeg liver obesity obsolete infantile epileptic encephalopathy obsolete type 1 diabetes mellitus 9 osteoarthritis pancreatic cancer pancreatic carcinoma peripheral nervous system disease permanent neonatal diabetes mellitus placental insufficiency polyneuropathy prediabetes syndrome progeria prostate cancer prostate carcinoma ptosis pyoureter retinal disease retinitis rheumatoid arthritis sensorineural hearing loss situs inversus steatotic liver disease syndromic X-linked intellectual disability 94 systemic lupus erythematosus transient neonatal diabetes mellitus trypanosomiasis 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 urea cycle disorder visceral leishmaniasis visual epilepsy
6385	syndecan 4	SDC4 SYND4 amphiglycan ryudocan syndecan proteoglycan 4	Chagas disease Sezary's disease actinic keratosis acute interstitial pneumonia acute myeloid leukemia acute myocardial infarction allergic asthma anaplastic astrocytoma aortic valve disease 2 aortic valve stenosis arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy asthma atherosclerosis autism spectrum disorder autistic disorder bacterial infectious disease bone osteosarcoma breast cancer breast carcinoma cancer cataract 32 multiple types cerebral infarction cerebrovascular disease childhood cerebral astrocytoma childhood osteosarcoma chronic obstructive pulmonary disease colitis colon cancer colon carcinoma colonic benign neoplasm colorectal cancer congestive heart failure coronary artery disease coronary thrombosis diabetes mellitus diabetic ketoacidosis dilated cardiomyopathy 1A dilated cardiomyopathy embryoma endometriosis of uterus endometriosis fibrillary astrocytoma fibrodysplasia ossificans progressiva gastroenteritis gemistocytic astrocytoma glomerulonephritis hepatitis C high grade glioma hyperglycemia idiopathic interstitial pneumonia idiopathic pulmonary fibrosis ileitis ileocolitis intrinsic asthma juvenile pilocytic astrocytoma kidney disease large intestine cancer leprosy liver cirrhosis lung cancer lung non-small cell carcinoma malignant astrocytoma melanoma myocardial infarction myositis ossificans nephritis nephrosis osteoarthritis osteosarcoma papillary adenocarcinoma papillary renal cell carcinoma pilocytic astrocytoma pneumonia postinflammatory pulmonary fibrosis primary cutaneous T-cell non-Hodgkin lymphoma protoplasmic astrocytoma pulmonary fibrosis pyoureter rheumatoid arthritis seborrheic keratosis silent myocardial infarction skin disease skin melanoma subependymal giant cell astrocytoma synovitis tenosynovitis thyroid adenoma thyroid cancer thyroid gland carcinoma thyroid gland papillary carcinoma trypanosomiasis type 2 diabetes mellitus ureteral obstruction
22934	ribose 5-phosphate isomerase A	RPIA	Chagas disease agnosia cancer colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma congenital nystagmus critical illness polyneuropathy disease of metabolism dissociated nystagmus epilepsy familial adenomatous polyposis 1 familial adenomatous polyposis hepatocellular carcinoma inflammatory and toxic neuropathy islet cell tumor large intestine cancer liver cancer liver carcinoma meningoencephalitis multiple myeloma neuropathy optic atrophy papillary adenocarcinoma papillary renal cell carcinoma pathologic nystagmus peripheral nervous system disease polyneuropathy spontaneous ocular nystagmus thyroid adenoma thyroid cancer thyroid gland carcinoma thyroid gland medullary carcinoma thyroid gland papillary carcinoma trypanosomiasis visual epilepsy
9663	lipin 2	LPIN2 KIAA0249	Chanarin-Dorfman syndrome Crohn's colitis Crohn's disease Diamond-Blackfan anemia SAPHO syndrome acne agranulocytosis allergic asthma anemia asthma autosomal recessive congenital ichthyosis 1 autosomal recessive osteopetrosis 7 cancer chronic recurrent multifocal osteomyelitis congenital dyserythropoietic anemia congenital generalized lipodystrophy type 1 congenital generalized lipodystrophy type 2 congenital generalized lipodystrophy type 3 congenital generalized lipodystrophy type 4 congenital hypoplastic anemia congestive heart failure dermatitis diabetes mellitus diabetic ketoacidosis disease of metabolism familial mediterranean fever familial periodic paralysis fibromyalgia gastrointestinal system disease glomerulonephritis granular corneal dystrophy 2 ichthyosis inflammatory bowel disease 1 inflammatory bowel disease intestinal disease intrinsic asthma keratosis follicularis leukopenia lipid metabolism disorder lipoatrophic diabetes mellitus lipodystrophy macrocytic anemia mevalonic aciduria microcytic anemia mongolian spot myoglobinuria myopathy myopia myositis nephritis neutropenia obesity obsolete congenital ichthyosiform erythroderma osteomyelitis osteopetrosis osteosclerosis prostate cancer prostate carcinoma proteinuria pseudoxanthoma elasticum relapsing fever rheumatoid arthritis severe congenital neutropenia synovitis tenosynovitis trichohepatoenteric syndrome 1 trichohepatoenteric syndrome tropical sprue type 2 diabetes mellitus ulcerative colitis
1376	carnitine palmitoyltransferase 2	CPT2 CPTASE	Chanarin-Dorfman syndrome Meckel syndrome Pearson syndrome Reye syndrome X-linked dilated cardiomyopathy abdominal obesity-metabolic syndrome 1 acute myocardial infarction arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy atherosclerosis attention deficit hyperactivity disorder autosomal dominant polycystic kidney disease beta thalassemia brain disease brain edema breast cancer breast carcinoma cancer carcinoma cardiomyopathy carnitine palmitoyltransferase I deficiency carnitine palmitoyltransferase II deficiency cataract chronic fatigue syndrome chronic kidney disease clubfoot colorectal cancer colorectal carcinoma congestive heart failure coronary artery disease coronary thrombosis diabetes mellitus diabetic ketoacidosis dilated cardiomyopathy 1A 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 embryoma encephalitis encephalomyelitis endomyocardial fibrosis epilepsy essential thrombocythemia familial hyperlipidemia familial periodic paralysis fibromyalgia glycogen storage disease II glycogen storage disease V hepatitis C hepatitis hepatocellular carcinoma hydrocephalus hydronephrosis hyperglycemia hypertrophic cardiomyopathy hypoglycemia influenza isolated elevated serum creatine phosphokinase levels kidney failure large intestine cancer lipid metabolism disorder liver cancer liver cirrhosis medium chain acyl-CoA dehydrogenase deficiency microcephaly mitochondrial metabolism disease mitochondrial myopathy mitochondrial trifunctional protein deficiency multiple acyl-CoA dehydrogenase deficiency muscular disease myelitis myelodysplastic syndrome myocardial infarction myoglobinuria myopathy myositis neurogenic arthropathy neuroleptic malignant syndrome obesity ovarian cancer pancytopenia placental insufficiency polycystic ovary syndrome primary pulmonary hypertension prostate cancer prostate carcinoma pseudosarcomatous fibromatosis psoriatic arthritis sarcomatoid carcinoma sick sinus syndrome silent myocardial infarction status epilepticus steatotic liver disease systemic primary carnitine deficiency disease thalassemia type 2 diabetes mellitus urea cycle disorder very long chain acyl-CoA dehydrogenase deficiency viral infectious disease visual epilepsy

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