GlyCosmos Portal

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GlyCosmos Genes

Integrated list of glycan-related genes extracted KEGG GENES Database, UniProt, GlycoGene Database (GGDB), Plant GARDEN and FlyGlycoDB. Glycan-related genes including glycosyltransferase, hydrolase activity (acting on glycosyl bonds), carbohydrate metabolic process, etc .

Source	Last Updated
FlyGlycoDB	March 25, 2024
GlycoGene Database (GGDB)	January 26, 2018
KEGG GENES Database	September 20, 2023
Plant GARDEN	May 28, 2020
UniProt	July 8, 2024

Selecting the function you want to look up from the categories displays a list narrowed down to glycan-related genes with that function (Gene Ontology).

Catalytic activity

glycosyltransferase activity

hydrolase activity, acting on glycosyl bonds

Binding

carbohydrate binding

Response to carbohydrate

Primary metabolic process

Displaying entries **101 - 125** of **1582** in total

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Gene ID	Gene Name	Gene Symbol	Organism ▼	Disease Ontology
3795	ketohexokinase	KHK Aliases: fructokinase	Homo sapiens (human)	cancer cardiovascular system disease central nervous system cancer chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma disease of metabolism embryoma essential fructosuria gliosarcoma heart disease hepatocellular carcinoma hereditary fructose intolerance syndrome high grade glioma hyperuricemia hypoglycemia kidney disease liver cancer lung cancer lung non-small cell carcinoma mixed glioma nonpapillary renal cell carcinoma obesity papillary renal cell carcinoma renal carcinoma renal cell carcinoma sarcomatoid renal cell carcinoma steatotic liver disease
151531	uridine phosphorylase 2	UPP2 Aliases: UDRPASE2 UP2 UPASE2	Homo sapiens (human)	autism spectrum disorder autistic disorder cancer depressive disorder diabetes mellitus major depressive disorder melancholic depression obsolete melancholia squamous cell carcinoma tarsal-carpal coalition syndrome tongue squamous cell carcinoma transitional cell carcinoma type 2 diabetes mellitus
23483	TDP-glucose 4,6-dehydratase	TGDS Aliases: SDR2E1 TDPGD short chain dehydrogenase/reductase family 2E, member 1	Homo sapiens (human)	Alzheimer's disease Catel Manzke syndrome Laron syndrome Marfan syndrome achondroplasia 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 cleft lip cleft palate clubfoot cryptorchidism cystic lymphangioma dementia depressive disorder dextrocardia dysthymic disorder epilepsy hydrocephalus inguinal hernia isolated cleft palate major depressive disorder melancholic depression neurotic disorder obsolete melancholia omphalocele otitis media patent foramen ovale placental insufficiency scoliosis situs inversus temtamy preaxial brachydactyly syndrome tuberous sclerosis umbilical hernia ventricular septal defect visual epilepsy
51102	mitochondrial trans-2-enoyl-CoA reductase	MECR Aliases: CGI-63 ETR1 FASN2B NRBF1 mitochondrial 2-enoyl thioester reductase nuclear receptor binding factor 1	Homo sapiens (human)	Leber hereditary optic neuropathy with demyelinating disease of CNS Unverricht-Lundborg syndrome blepharospasm blindness cerebral palsy childhood-onset dystonia with optic atrophy and basal ganglia abnormalities choreatic disease colorectal cancer colorectal carcinoma congenital nystagmus disorder of sexual development dissociated nystagmus dystonia early myoclonic encephalopathy focal hand dystonia generalized dystonia hemiplegia hermaphroditism large intestine cancer lingual-facial-buccal dyskinesia optic atrophy pathologic nystagmus pseudohermaphroditism schizophrenia spastic diplegia spastic monoplegia spastic quadriplegic cerebral palsy spontaneous ocular nystagmus syndromic X-linked intellectual disability type 10
7351	uncoupling protein 2	UCP2	Homo sapiens (human)	Huntington's disease carotid artery disease congestive heart failure diabetic neuropathy end stage renal disease hypertension hypothyroidism metabolic dysfunction-associated steatotic liver disease obesity obstructive jaundice polycystic liver disease steatotic liver disease transient cerebral ischemia type 2 diabetes mellitus
8434	reversion inducing cysteine rich protein with kazal motifs	RECK Aliases: hRECK	Homo sapiens (human)	abdominal aortic aneurysm acute interstitial pneumonia adenocarcinoma adenoid cystic carcinoma adenoma adenosarcoma adult respiratory distress syndrome ameloblastoma anaplastic astrocytoma arthritis arthropathy atrial fibrillation bile duct adenocarcinoma bile duct carcinoma bladder carcinoma bone osteosarcoma breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma central nervous system cancer cervical adenocarcinoma cervical cancer cervix carcinoma cervix disease childhood cerebral astrocytoma childhood osteosarcoma cholangiocarcinoma chorioamnionitis chronic obstructive pulmonary disease cocaine abuse cocaine dependence colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma complement deficiency cribriform carcinoma cutaneous fibrous histiocytoma cystic fibrosis distal arthrogryposis dysplastic nevus syndrome embryoma epilepsy epithelioid malignant peripheral nerve sheath tumor esophageal cancer esophageal carcinoma esophagus squamous cell carcinoma fibrillary astrocytoma fibrosarcoma gemistocytic astrocytoma giant cell glioblastoma glioblastoma gliosarcoma granular cell carcinoma hematologic cancer hepatitis C hepatocellular carcinoma hidradenoma high grade glioma idiopathic interstitial pneumonia intrahepatic cholangiocarcinoma juvenile pilocytic astrocytoma large intestine cancer leiomyoma liver cancer lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung disease lung non-small cell carcinoma malignant astrocytoma malignant peripheral nerve sheath tumor melanoma mixed glioma multiple myeloma myofibroma nasopharyngitis nasopharynx carcinoma necrotizing fasciitis nephroblastoma neurilemmoma neuroblastoma neurofibrosarcoma nodular prostate osteoarthritis osteosarcoma pancreatic cancer pancreatic ductal adenocarcinoma papillary adenocarcinoma papillary renal cell carcinoma patent ductus arteriosus periodontal disease periodontitis pilocytic astrocytoma prostate cancer prostate carcinoma prostatic adenoma protoplasmic astrocytoma rheumatoid arthritis salivary gland adenoid cystic carcinoma sarcoidosis sarcomatoid carcinoma skin melanoma skin papilloma skin tag squamous cell carcinoma stomach cancer stomach carcinoma subependymal giant cell astrocytoma syringoma systemic lupus erythematosus thyroid adenoma thyroid cancer thyroid gland carcinoma thyroid gland papillary carcinoma tongue squamous cell carcinoma transitional cell carcinoma tubular adenocarcinoma urinary bladder cancer uterine fibroid uveoparotid fever viral infectious disease
56623	inositol polyphosphate-5-phosphatase E	INPP5E Aliases: CORS1 PPI5PIV Phosphatidylinositol polyphosphate 5-phosphatase type IV pharbin	Homo sapiens (human)	Bannayan-Riley-Ruvalcaba syndrome Bardet-Biedl syndrome 10 Bardet-Biedl syndrome 11 Bardet-Biedl syndrome 12 Bardet-Biedl syndrome 13 Bardet-Biedl syndrome 14 Bardet-Biedl syndrome 15 Bardet-Biedl syndrome 16 Bardet-Biedl syndrome 17 Bardet-Biedl syndrome 18 Bardet-Biedl syndrome 19 Bardet-Biedl syndrome 1 Bardet-Biedl syndrome 2 Bardet-Biedl syndrome 3 Bardet-Biedl syndrome 4 Bardet-Biedl syndrome 5 Bardet-Biedl syndrome 6 Bardet-Biedl syndrome 7 Bardet-Biedl syndrome 8 Bardet-Biedl syndrome 9 Bardet-Biedl syndrome Cogan syndrome Hirschsprung's disease Joubert syndrome 1 Joubert syndrome Kartagener syndrome Klippel-Feil syndrome Laurence-Moon syndrome Meckel syndrome 1 Meckel syndrome adult medulloblastoma autosomal dominant polycystic kidney disease autosomal recessive polycystic kidney disease blindness cancer cataract central sleep apnea childhood medulloblastoma cleft palate clubfoot coloboma of optic nerve coloboma communicating hydrocephalus congenital nystagmus congenital ptosis cystic kidney disease dextrocardia diffuse interstitial keratitis dissociated nystagmus embryoma epilepsy episodic kinesigenic dyskinesia 1 fundus dystrophy glomerulonephritis hepatocellular carcinoma hydrocephalus hypertropia inguinal hernia intellectual disability interstitial lung disease isolated cleft palate kidney disease kidney failure learning disability leukoplakia of penis liver cancer liver cirrhosis mechanical strabismus medulloblastoma medullomyoblastoma melanoma melanotic medulloblastoma nephritis nephrosis non-congenital cyst of kidney obesity obstructive hydrocephalus oculocerebrorenal syndrome ophthalmoplegia patent ductus arteriosus pathologic nystagmus polycystic kidney disease 4 polydactyly portal hypertension primary ciliary dyskinesia 1 primary ciliary dyskinesia ptosis pyoureter scoliosis senile degeneration of brain skin melanoma spondylolisthesis spontaneous ocular nystagmus strabismus viral infectious disease visual epilepsy visual pathway disease
6517	solute carrier family 2 member 4	SLC2A4	Homo sapiens (human)	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 Creutzfeldt-Jakob disease Graves' disease Huntington's disease-like 1 Huntington's disease-like 2 Huntington's disease Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Pick's disease Reye syndrome Richter's syndrome Simpson-Golabi-Behmel syndrome type 1 X-linked dilated cardiomyopathy Zollinger-Ellison syndrome abdominal obesity-metabolic syndrome 1 acute myocardial infarction adenocarcinoma adenoma alternating hemiplegia of childhood alveolar rhabdomyosarcoma amnestic disorder anterolateral myocardial infarction anteroseptal myocardial infarction autonomic neuropathy bacterial sepsis bone osteosarcoma breast cancer breast carcinoma cancer cardiovascular system disease central nervous system disease centronuclear myopathy cerebral degeneration childhood osteosarcoma chromophobe renal cell carcinoma chronic kidney disease chronic lymphocytic leukemia chronic obstructive pulmonary disease clear cell adenocarcinoma clear cell renal cell carcinoma collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma congenital structural myopathy congestive heart failure coronary artery disease coronary thrombosis cribriform carcinoma dental caries dentin caries depressive disorder dermoid cyst of ovary 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 dysthymic disorder embryoma endometrial cancer endometrial carcinoma endometriosis of uterus endometriosis essential hypertension familial hyperlipidemia gastrointestinal stromal tumor gestational diabetes gingival fibromatosis glucose intolerance glycogen storage disease Ia glycogen storage disease V granular cell carcinoma head and neck squamous cell carcinoma heart disease hepatocellular carcinoma hyperglycemia hyperinsulinism hypertension hyperthyroidism hypoglycemia kwashiorkor large intestine cancer leiomyoma liver cancer liver carcinoma liver cirrhosis major depressive disorder marasmus melancholic depression mitral valve stenosis morbid obesity multiple myeloma multiple sclerosis myocardial infarction myofibroma myotonic dystrophy type 1 myotonic dystrophy type 2 nervous system disease neuropathy neurotic disorder nonpapillary renal cell carcinoma nutrition disease obesity obsolete melancholia obsolete type 1 diabetes mellitus 9 obsolete ymphosarcoma obstructive sleep apnea osteosarcoma ovarian cancer ovarian carcinoma oxyphilic adenoma papillary renal cell carcinoma periodontal disease periodontitis peripheral nervous system disease placental insufficiency polycystic ovary syndrome polyneuropathy prediabetes syndrome primary pulmonary hypertension prostate cancer prostate carcinoma protein-energy malnutrition psoriatic arthritis pulmonary hypertension renal agenesis renal carcinoma renal cell carcinoma renal oncocytoma sarcomatoid renal cell carcinoma silent myocardial infarction squamous cell carcinoma steatotic liver disease stomach cancer stomach carcinoma systemic lupus erythematosus thyrotoxicosis 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 uterine corpus cancer uterine fibroid vascular disease
122618	phospholipase D family member 4	PLD4	Homo sapiens (human)	Usher syndrome type 2 Usher syndrome type 3 Usher syndrome colon cancer colon carcinoma colonic benign neoplasm colorectal cancer hepatitis large intestine cancer retinitis pigmentosa-deafness syndrome rheumatoid arthritis scleroderma systemic lupus erythematosus systemic scleroderma
6483	ST3 beta-galactoside alpha-2,3-sialyltransferase 2	ST3GAL2 Aliases: ST3GALII ST3GalA.2	Homo sapiens (human)	Parkinson's disease chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma late onset Parkinson's disease mucopolysaccharidosis IV mucopolysaccharidosis IVA nonpapillary renal cell carcinoma papillary renal cell carcinoma renal carcinoma renal cell carcinoma sarcomatoid renal cell carcinoma
1717	7-dehydrocholesterol reductase	DHCR7	Homo sapiens (human)	3-methylglutaconic aciduria Behcet's disease Dandy-Walker syndrome Hailey-Hailey disease Laron syndrome Marfan syndrome Meckel syndrome Potter's syndrome Rapp-Hodgkin syndrome Rothmund-Thomson syndrome Smith-Lemli-Opitz syndrome X-linked ichthyosis achondroplasia ankyloblepharon-ectodermal defects-cleft lip/palate syndrome arteriosclerotic cardiovascular disease atherosclerosis atrioventricular septal defect autism spectrum disorder autistic disorder autoimmune disease autoimmune lymphoproliferative syndrome autosomal dominant cutis laxa 1 autosomal dominant cutis laxa 2 autosomal dominant cutis laxa 3 autosomal dominant cutis laxa autosomal dominant polycystic kidney disease 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 bilateral optic nerve hypoplasia bilateral renal aplasia cardiovascular system disease choanal atresia coloboma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer congenital disorder of glycosylation type II congenital disorder of glycosylation type IIc coronary artery disease cutis laxa dermatitis diabetes mellitus diabetic ketoacidosis fissured tongue glaucoma glycoproteinosis heart disease hepatitis C hepatocellular carcinoma hydrocephalus hypohidrotic ectodermal dysplasia hypospadias immune system disease intellectual disability interstitial nephritis large intestine cancer learning disability leukocyte adhesion deficiency 2 leukocyte adhesion deficiency lingual-facial-buccal dyskinesia liver cancer liver cirrhosis mal de Meleda microcephaly movement disease multiple sclerosis nutmeg liver obsolete type 1 diabetes mellitus 9 oligohydramnios osteomalacia periventricular nodular heterotopia photosensitive epilepsy photosensitivity disease placental insufficiency polycystic ovary syndrome polydactyly polyhydramnios pyelitis pyelonephritis restrictive dermopathy rheumatoid arthritis rickets scoliosis sensorineural hearing loss situs inversus syndromic X-linked intellectual disability type 10 tongue disease 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 ventricular septal defect
308	annexin A5	ANXA5 Aliases: CPB-I Calphobindin I PAP-I Placental anticoagulant protein I RPRGL3 VAC-alph Vascular anticoagulant-alpha annexin V endonexin II	Homo sapiens (human)	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 Behcet's disease Chediak-Higashi syndrome Cockayne syndrome Ebola hemorrhagic fever Graves' disease HCL-V Hodgkin's granuloma Hodgkin's lymphoma, lymphocytic depletion Hodgkin's lymphoma, lymphocytic-histiocytic predominance Hodgkin's lymphoma, mixed cellularity Hodgkin's lymphoma Japanese encephalitis Kuhnt-Junius degeneration Langerhans-cell histiocytosis Lewy body dementia Marfan syndrome Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Pelger-Huet anomaly Pick's disease Raynaud disease Reye syndrome Richter's syndrome Scott syndrome Sertoli cell-only syndrome Sezary's disease Wilson disease X-linked ichthyosis Y-linked spermatogenic failure 1 acute lymphoblastic leukemia acute myeloid leukemia acute myocardial infarction acute promyelocytic leukemia adenocarcinoma adenoma adenosarcoma adult acute lymphocytic leukemia adult fibrosarcoma adult lymphoma allergic asthma amyloidosis ankyloblepharon-ectodermal defects-cleft lip/palate syndrome antiphospholipid syndrome antithrombin III deficiency arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arteriovenous malformation arthritis arthropathy asthma atelosteogenesis atherosclerosis atrichia with papular lesions autoimmune disease of the nervous system autoimmune disease autoimmune hemolytic anemia autoimmune lymphoproliferative syndrome autoimmune polyendocrine syndrome autosomal recessive limb-girdle muscular dystrophy type 2B bacterial infectious disease beta thalassemia bile duct adenocarcinoma bile duct carcinoma bone osteosarcoma breast adenocarcinoma breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma cardiovascular system disease carotid artery disease central nervous system cancer central nervous system lymphoma central sleep apnea cerebral degeneration cervical adenocarcinoma cervical cancer cervical squamous cell carcinoma cervix carcinoma childhood acute lymphocytic leukemia childhood lymphoma childhood osteosarcoma cholangiocarcinoma cholera chondrocalcinosis chondrosarcoma choriocarcinoma chromophobe renal cell carcinoma chromosome 5q deletion syndrome chronic kidney disease chronic lymphocytic leukemia chronic myeloid leukemia chronic obstructive pulmonary disease clear cell renal cell carcinoma colitis collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma common wart congenital hypothyroidism congestive heart failure coronary artery disease coronary thrombosis cribriform carcinoma cryptorchidism cystic fibrosis dengue disease diabetes mellitus diabetic ketoacidosis diffuse large B-cell lymphoma disseminated intravascular coagulation distal arthrogryposis eclampsia embryoma endometrial cancer endometrial carcinoma eosinophilic esophagitis epithelioid sarcoma esophagus squamous cell carcinoma essential hypertension essential thrombocythemia ethylmalonic encephalopathy familial adenomatous polyposis 1 familial adenomatous polyposis familial hypercholesterolemia familial periodic paralysis fetal erythroblastosis fibrosarcoma gallbladder cancer gallbladder carcinoma gastroenteritis gastrointestinal stromal tumor giant cell glioblastoma glaucoma glioblastoma gliosarcoma glomerulonephritis granular cell carcinoma hairy cell leukemia head and neck squamous cell carcinoma heart disease hemochromatosis hepatitis B hepatocellular carcinoma hidradenitis suppurativa hidradenitis high grade glioma hyperglycemia hyperostosis hyperphosphatemic familial tumoral calcinosis hypertension hyperthyroidism hypothyroidism idiopathic interstitial pneumonia idiopathic pulmonary fibrosis ileitis ileocolitis immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome immune system disease intrahepatic cholangiocarcinoma intrinsic asthma iron metabolism disease ischemia islet cell tumor kidney cancer kidney disease large intestine cancer laryngeal benign neoplasm laryngeal carcinoma laryngeal squamous cell carcinoma larynx cancer liver cancer liver carcinoma liver cirrhosis lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lymphoma lymphoplasmacytic lymphoma macroglobulinemia male infertility melanoma mixed glioma multiple myeloma multiple sclerosis musculoskeletal system disease myelodysplastic syndrome myeloproliferative disorder with eosinophilia myocardial infarction myopathy myxedema nasopharynx carcinoma nephritis nephroblastoma nephrotic syndrome type 2 neuroblastoma non-Hodgkin lymphoma nonpapillary renal cell carcinoma nutmeg liver obsolete lymphoplasmacytic lymphoma obsolete malignant histiocytosis obsolete type 1 diabetes mellitus 9 obsolete ymphosarcoma obstructive sleep apnea oligospermia osteoarthritis osteosarcoma ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma pancreatic ductal carcinoma papillary adenocarcinoma papillary renal cell carcinoma phototoxic dermatitis placenta cancer placenta disease placental insufficiency pneumonia polycystic ovary syndrome pompholyx postinflammatory pulmonary fibrosis pre-eclampsia primary cutaneous T-cell non-Hodgkin lymphoma primary open angle glaucoma primary pulmonary hypertension prostate cancer prostate carcinoma protein C deficiency protein S deficiency pulmonary fibrosis purpura fulminans renal carcinoma renal cell carcinoma reticulosarcoma rheumatoid arthritis sarcoma sarcomatoid carcinoma sarcomatoid renal cell carcinoma sickle cell anemia silent myocardial infarction situs inversus skin melanoma spindle cell hemangioma spindle cell sarcoma squamous cell carcinoma stomach cancer stomach carcinoma systemic lupus erythematosus systemic scleroderma thrombophilia thrombosis thyroid adenoma thyroid cancer thyroid gland carcinoma thyroid gland papillary carcinoma thyrotoxicosis tongue squamous cell carcinoma tuberculosis tuberous sclerosis tubular adenocarcinoma type 1 diabetes mellitus 10 type 1 diabetes mellitus 11 type 1 diabetes mellitus 12 type 1 diabetes mellitus 13 type 1 diabetes mellitus 15 type 1 diabetes mellitus 17 type 1 diabetes mellitus 18 type 1 diabetes mellitus 19 type 1 diabetes mellitus 20 type 1 diabetes mellitus 21 type 1 diabetes mellitus 22 type 1 diabetes mellitus 23 type 1 diabetes mellitus 24 type 1 diabetes mellitus 2 type 1 diabetes mellitus 3 type 1 diabetes mellitus 4 type 1 diabetes mellitus 5 type 1 diabetes mellitus 6 type 1 diabetes mellitus 7 type 1 diabetes mellitus 8 type 1 diabetes mellitus type 2 diabetes mellitus urinary bladder cancer uterine corpus cancer viral infectious disease yellow fever
9562	multiple inositol-polyphosphate phosphatase 1	MINPP1 Aliases: MIPP	Homo sapiens (human)	actinic keratosis cancer carcinoma chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma colon cancer colonic benign neoplasm colorectal cancer head and neck cancer large intestine cancer multiple myeloma nodular goiter papillary adenocarcinoma papillary renal cell carcinoma pontocerebellar hypoplasia type 16 renal cell carcinoma sarcomatoid carcinoma sarcomatoid renal cell carcinoma seborrheic keratosis skin disease spinal cord disease thyroid adenoma thyroid cancer thyroid gland carcinoma thyroid gland follicular carcinoma thyroid gland papillary carcinoma
23169	solute carrier family 35 member D1	SLC35D1 Aliases: KIAA0260 UDP-glucuronic acid/UDP-N-acetylgalactosamine transporter UGTREL7	Homo sapiens (human)	cleft palate cryptorchidism dermatitis elephantiasis fibrochondrogenesis isolated cleft palate lymphedema mucopolysaccharidosis IV multiple epiphyseal dysplasia osteochondrodysplasia polyhydramnios schneckenbecken dysplasia
3384	intercellular adhesion molecule 2	ICAM2 Aliases: CD102	Homo sapiens (human)	Barrett's esophagus Hantavirus hemorrhagic fever with renal syndrome abdominal aortic aneurysm acquired immunodeficiency syndrome benign mesothelioma bronchus cancer bronchus carcinoma cancer embryoma esophageal cancer esophageal carcinoma human immunodeficiency virus infectious disease inflammatory bowel disease 1 inflammatory bowel disease interstitial lung disease lepromatous leprosy lung benign neoplasm lung cancer lung carcinoma malignant mesothelioma neuroblastoma pancreatic cancer pancreatic carcinoma pterygium scleroderma stomach cancer stomach carcinoma systemic scleroderma tuberculoid leprosy ulcerative colitis
2882	glutathione peroxidase 7	GPX7 Aliases: FLJ14777 GPX6 NPGPx	Homo sapiens (human)	Barrett's adenocarcinoma Barrett's esophagus Huntington's disease-like 1 Huntington's disease-like 2 Huntington's disease amyotrophic lateral sclerosis breast cancer breast carcinoma bronchiolo-alveolar adenocarcinoma cancer embryoma esophagus adenocarcinoma hyperhomocysteinemia lung cancer progressive muscular atrophy
1571	cytochrome P450 family 2 subfamily E member 1	CYP2E1	Homo sapiens (human)	B-cell lymphoma Burkitt lymphoma Kawasaki disease Langerhans-cell histiocytosis Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Shwachman-Diamond syndrome Van der Woude syndrome acoustic neuroma acute kidney failure acute lymphoblastic leukemia acute myeloid leukemia acute pancreatitis adamantinous craniopharyngioma adenocarcinoma adenoma adrenoleukodystrophy adult acute lymphocytic leukemia alcohol dependence alcohol use disorder alcoholic cardiomyopathy alcoholic hepatitis alcoholic liver cirrhosis alcoholic pancreatitis allergic asthma anthracosilicosis antisocial personality disorder anxiety disorder aortic valve insufficiency aplastic anemia arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease asbestosis asthma ataxic cerebral palsy 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 atrophic gastritis autism spectrum disorder autistic disorder autoimmune disease autoimmune hepatitis autoimmune lymphoproliferative syndrome bacterial sepsis beta thalassemia bladder carcinoma brain cancer breast cancer breast carcinoma bronchus cancer bronchus carcinoma byssinosis cancer carcinoma cardiomyopathy cardiovascular system disease cellular schwannoma central nervous system cancer central nervous system lymphoma cerebral infarction cerebrovascular disease cervical adenocarcinoma cervical cancer cervix carcinoma cervix uteri carcinoma in situ childhood acute lymphocytic leukemia childhood leukemia chronic obstructive pulmonary disease colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma congenital diaphragmatic hernia congenital diarrhea 5 with tufting enteropathy congestive heart failure coronary artery disease craniopharyngioma cribriform carcinoma depressive disorder diabetes insipidus diabetes mellitus diabetic ketoacidosis dilated cardiomyopathy 1A dilated cardiomyopathy drug-induced hepatitis dysthymic disorder embryoma endometrial cancer endometrial carcinoma endomyocardial fibrosis epilepsy esophageal cancer esophageal carcinoma esophagus squamous cell carcinoma essential thrombocythemia exanthem extrinsic allergic alveolitis familial hyperlipidemia familial periodic paralysis follicular adenoma gallbladder disease gastric adenocarcinoma gastric cardia carcinoma gastrointestinal system cancer generalized anxiety disorder giant cell glioblastoma glioblastoma gliosarcoma glomerulonephritis gout granular cell carcinoma head and neck cancer head and neck squamous cell carcinoma heart disease hepatitis A hepatitis B hepatitis C hepatitis hepatocellular adenoma hepatocellular carcinoma high grade glioma holoprosencephaly 1 holoprosencephaly hyperglycemia hypertrophic cardiomyopathy immune system disease inflammatory bowel disease 1 inflammatory bowel disease intrinsic asthma ischemia kidney disease kwashiorkor large intestine cancer laryngeal benign neoplasm laryngeal carcinoma laryngeal squamous cell carcinoma larynx cancer leprosy liver cancer liver cirrhosis liver disease lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lung oat cell carcinoma lung small cell carcinoma lung squamous cell carcinoma lymphoblastic lymphoma lymphoma major depressive disorder malignant peripheral nerve sheath tumor marasmus melancholic depression melanoma melanotic neurilemmoma meningioma metabolic dysfunction-associated steatotic liver disease microcystic adenoma middle cerebral artery infarction mixed glioma morbid obesity myelodysplastic syndrome myopathy nasopharynx carcinoma nephritis nephrosis neurilemmoma neurofibromatosis neurohypophyseal diabetes insipidus neurotic disorder nicotine dependence non-Hodgkin lymphoma nutmeg liver nutrition disease obesity obsolete melancholia obsolete type 1 diabetes mellitus 9 obsolete ymphosarcoma oral cavity cancer oral mucosa leukoplakia oral squamous cell carcinoma oral submucous fibrosis pancreas disease pancreatitis papillary adenoma papillary craniopharyngioma parapsoriasis patent foramen ovale peptic ulcer disease periodontitis personality disorder pharynx cancer phobic disorder pituitary adenoma placental insufficiency plexiform schwannoma pneumonia porphyria cutanea tarda prostate cancer prostate carcinoma protein-energy malnutrition psoriasis pulmonary tuberculosis pure red-cell aplasia pustulosis of palm and sole pyoureter rectal benign neoplasm rectum adenocarcinoma rectum cancer reticulosarcoma rheumatoid arthritis sarcomatoid carcinoma schizophrenia sideroblastic anemia skin melanoma spermatogenic failure 15 squamous cell carcinoma squamous cell neoplasm steatotic liver disease stomach cancer stomach carcinoma substance abuse substance-related disorder systemic lupus erythematosus thalassemia tongue squamous cell carcinoma transitional cell carcinoma tuberculosis tuberculous pneumothorax tubular adenocarcinoma type 1 diabetes mellitus 10 type 1 diabetes mellitus 11 type 1 diabetes mellitus 12 type 1 diabetes mellitus 13 type 1 diabetes mellitus 15 type 1 diabetes mellitus 17 type 1 diabetes mellitus 18 type 1 diabetes mellitus 19 type 1 diabetes mellitus 20 type 1 diabetes mellitus 21 type 1 diabetes mellitus 22 type 1 diabetes mellitus 23 type 1 diabetes mellitus 24 type 1 diabetes mellitus 2 type 1 diabetes mellitus 3 type 1 diabetes mellitus 4 type 1 diabetes mellitus 5 type 1 diabetes mellitus 6 type 1 diabetes mellitus 7 type 1 diabetes mellitus 8 type 1 diabetes mellitus type 2 diabetes mellitus ulcerative colitis urinary bladder cancer uterine corpus cancer vestibular schwannomatosis visual epilepsy white sponge nevus
6916	thromboxane A synthase 1	TBXAS1 Aliases: CYP5 CYP5A1 THAS TS TXAS TXS cytochrome P450, family 5, subfamily A, polypeptide 1	Homo sapiens (human)	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
23409	sirtuin 4	SIRT4 Aliases: SIR2L4	Homo sapiens (human)	B-cell lymphoma Burkitt lymphoma HELLP syndrome Zollinger-Ellison syndrome acute myocardial infarction adenocarcinoma adenoma arteriosclerotic cardiovascular disease atherosclerosis breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer cardiomyopathy centronuclear myopathy colorectal cancer colorectal carcinoma congenital structural myopathy coronary artery disease coronary thrombosis cribriform carcinoma cytochrome-c oxidase deficiency disease diabetes mellitus diabetic cataract diabetic ketoacidosis diabetic retinopathy disease of metabolism embryoma endometrial cancer endometrial carcinoma endomyocardial fibrosis esophagus squamous cell carcinoma granular cell carcinoma head and neck squamous cell carcinoma hepatocellular carcinoma hyperinsulinism hypertrophic cardiomyopathy large intestine cancer liver cancer liver carcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma metabolic dysfunction-associated steatotic liver disease myocardial infarction neuroblastoma nutmeg liver obesity obsolete ymphosarcoma pancreatic cancer pancreatic carcinoma pre-eclampsia retinal disease retinitis silent myocardial infarction squamous cell carcinoma steatotic liver disease stomach cancer stomach carcinoma thyroid adenoma thyroid cancer thyroid gland carcinoma tongue squamous cell carcinoma transient myeloproliferative syndrome tubular adenocarcinoma tubular aggregate myopathy 1 type 2 diabetes mellitus uterine corpus cancer
130749	carboxypeptidase O	CPO Aliases: metallocarboxypeptidase C metallocarboxypeptidase O	Homo sapiens (human)	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 DiGeorge syndrome Pick's disease Reye syndrome Van der Woude syndrome cerebral degeneration colorectal cancer colorectal carcinoma craniosynostosis hereditary coproporphyria large intestine cancer melorheostosis velocardiofacial syndrome
6576	solute carrier family 25 member 1	SLC25A1	Homo sapiens (human)	2-hydroxyglutaric aciduria DiGeorge syndrome chromosome 22q11.2 deletion syndrome, distal combined D-2- and L-2-hydroxyglutaric aciduria congenital myasthenic syndrome mitochondrial metabolism disease
2591	polypeptide N-acetylgalactosaminyltransferase 3	GALNT3 Aliases: GalNAc-T3 HFTC HHS polypeptide GalNAc transferase 3	Homo sapiens (human)	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
10327	aldo-keto reductase family 1 member A1	AKR1A1 Aliases: ALR DD3 aldehyde reductase dihydrodiol dehydrogenase 3	Homo sapiens (human)	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 Barrett's esophagus Langerhans-cell histiocytosis Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Pick's disease Prinzmetal angina Reye syndrome Stargardt disease Wernicke-Korsakoff syndrome acute myocardial infarction acute pancreatitis adenocarcinoma adenoma adrenoleukodystrophy adult fibrosarcoma age related macular degeneration alcohol dependence alcohol use disorder alcoholic hepatitis alcoholic liver cirrhosis alcoholic pancreatitis amnestic disorder anaplastic astrocytoma anorectal stricture arteriosclerotic cardiovascular disease atherosclerosis atrial fibrillation atrophy of testis autistic disorder autoimmune disease autoimmune lymphoproliferative syndrome autoimmune polyendocrine syndrome background diabetic retinopathy benign ependymoma bile duct adenocarcinoma bile duct carcinoma bladder carcinoma bone osteosarcoma brain cancer brain stem infarction breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer candidiasis cardiovascular system disease cellular ependymoma cerebral artery occlusion cerebral degeneration cerebral infarction cerebrovascular disease childhood cerebral astrocytoma childhood ependymoma childhood osteosarcoma cholangiocarcinoma chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma colorectal cancer colorectal carcinoma coronary artery disease coronary thrombosis cribriform carcinoma degeneration of macula and posterior pole depressive disorder diabetes mellitus diabetic cataract diabetic ketoacidosis diabetic retinopathy dysthymic disorder embryoma esophageal cancer esophageal carcinoma esophagus adenocarcinoma esophagus squamous cell carcinoma essential hypertension essential tremor exudative vitreoretinopathy familial periodic paralysis fibrillary astrocytoma fibrosarcoma gallbladder disease gastric cardia adenocarcinoma gemistocytic astrocytoma glucocorticoid-remediable aldosteronism glycogen storage disease II granular cell carcinoma granuloma annulare head and neck cancer head and neck squamous cell carcinoma heart disease hepatitis B hepatitis C hepatocellular carcinoma high grade glioma hypertension hypopharynx cancer immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome immune system disease intrahepatic cholangiocarcinoma juvenile pilocytic astrocytoma kwashiorkor large intestine cancer laryngeal benign neoplasm laryngeal carcinoma laryngeal disease larynx cancer liver cancer liver cirrhosis liver disease lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lymphoma macular degeneration major depressive disorder malaria malignant astrocytoma marasmus melancholic depression migraine myocardial infarction myopathy myxopapillary ependymoma neurodegenerative disease neuropathy neurotic disorder nicotine dependence non-Hodgkin lymphoma nonpapillary renal cell carcinoma nutmeg liver nutrition disease obesity obsolete constipation obsolete eye and adnexa disease obsolete melancholia obsolete type 1 diabetes mellitus 9 obsolete ymphosarcoma oral candidiasis osteoporosis osteosarcoma pancreatic adenocarcinoma pancreatic cancer pancreatic carcinoma pancreatitis papillary ependymoma papillary renal cell carcinoma perinatal necrotizing enterocolitis peripheral nervous system disease pharynx cancer pilocytic astrocytoma placental insufficiency polyneuropathy proliferative diabetic retinopathy prostate cancer prostate carcinoma protein-energy malnutrition protoplasmic astrocytoma renal carcinoma renal cell carcinoma reticulosarcoma sarcomatoid renal cell carcinoma schizophrenia scurvy sensorineural hearing loss silent myocardial infarction squamous cell carcinoma squamous cell neoplasm steatotic liver disease stomach cancer stomach carcinoma subependymal giant cell astrocytoma substance abuse substance-related disorder tanycytic ependymoma tongue squamous cell carcinoma tracheal disease 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 urinary bladder cancer viral infectious disease vulvovaginal candidiasis
5297	phosphatidylinositol 4-kinase alpha	PI4KA Aliases: PI4K-ALPHA phosphatidylinositol 4-kinase III alpha phosphatidylinositol 4-kinase IIIα pi4K230	Homo sapiens (human)	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 CEDNIK syndrome Pick's disease Reye syndrome anemia cancer cerebral degeneration chromosome 22q11.2 deletion syndrome, distal clubfoot disease of mental health hepatitis C hepatocellular carcinoma hereditary spastic paraplegia 84 hypomyelinating leukodystrophy 2 liver cancer macrocytic anemia prostate cancer prostate carcinoma psychotic disorder schizophrenia
79796	ALG9 alpha-1,2-mannosyltransferase	ALG9 Aliases: dol-P-Man dependent alpha-1,2-mannosyltransferase dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase	Homo sapiens (human)	Gilles de la Tourette syndrome Marfan syndrome Meckel syndrome 1 Meckel syndrome 2 Meckel syndrome 3 Meckel syndrome 4 Meckel syndrome 5 Meckel syndrome 6 Meckel syndrome 8 Meckel syndrome autosomal dominant polycystic kidney disease cardiovascular system disease congenital disorder of glycosylation Il congenital disorder of glycosylation type I congenital disorder of glycosylation congenital heart disease congestive heart failure craniosynostosis cystic kidney disease cystinuria enophthalmos epilepsy esotropia galactokinase deficiency galactosemia glucosephosphate dehydrogenase deficiency glycogen storage disease Ia glycogen storage disease heart disease heart septal defect hemopericardium intellectual disability learning disability microcephaly monocular esotropia mucopolysaccharidosis IV multiple epiphyseal dysplasia neuroendocrine carcinoma neuroendocrine tumor obsolete exophthalmos orbital disease osteochondrodysplasia pericardial effusion polycystic kidney disease 1 polycystic liver disease psychotic disorder schizoaffective disorder schizophrenia schizophreniform disorder situs inversus tuberous sclerosis visual epilepsy

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