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 **1201 - 1225** of **1582** in total

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Gene ID	Gene Name	Gene Symbol	Organism ▲	Disease Ontology
9126	structural maintenance of chromosomes 3	SMC3 Aliases: BAM HCAP SMC3L1 bamacan bamacan proteoglycan	Homo sapiens (human)	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
1579	cytochrome P450 family 4 subfamily A member 11	CYP4A11 Aliases: CYP4AII	Homo sapiens (human)	Meckel syndrome acute myocardial infarction alcoholic liver cirrhosis arteriosclerotic cardiovascular disease atherosclerosis autosomal dominant polycystic kidney disease autosomal recessive polycystic kidney disease brain stem infarction cancer cerebral artery occlusion cerebral infarction cerebrovascular disease coronary artery disease coronary thrombosis diabetes mellitus diabetic ketoacidosis embryoma essential hypertension hepatocellular carcinoma hypertension liver cancer liver cirrhosis myocardial infarction nephrosclerosis nutmeg liver renal artery disease renal hypertension silent myocardial infarction steatotic liver disease varicose veins
10090	uronyl 2-sulfotransferase	UST Aliases: 2OST	Homo sapiens (human)	Crohn's colitis Crohn's disease ankylosing spondylitis arthritis arthropathy atrial fibrillation attention deficit hyperactivity disorder cancer endometriosis of ovary endometriosis of uterus endometriosis inflammatory bowel disease 1 inflammatory bowel disease osteoarthritis ulcerative colitis
127281	peroxiredoxin like 2B	PRXL2B Aliases: MGC26818 prostamide/prostaglandin F synthase thioredoxin-type PGF synthase	Homo sapiens (human)
89858	sialic acid binding Ig like lectin 12	SIGLEC12 Aliases: S2V SLG Siglec-12 Siglec-L1 Siglec-XII	Homo sapiens (human)	carcinoma chronic fatigue syndrome disease of metabolism encephalomyelitis obesity prostate cancer prostate carcinoma sarcomatoid carcinoma systemic lupus erythematosus
3955	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	LFNG Aliases: SCDO3	Homo sapiens (human)	Klippel-Feil syndrome Laron syndrome Marfan syndrome achondroplasia breast cancer breast carcinoma cleft palate congenital diaphragmatic hernia cryptorchidism dysostosis hypospadias inguinal hernia intellectual disability isolated cleft palate learning disability meningocele microcephaly mucopolysaccharidosis IV multiple epiphyseal dysplasia omphalocele osteochondrodysplasia pancreatic cancer pancreatic carcinoma placental insufficiency scimitar syndrome scoliosis sickle cell anemia situs inversus spina bifida occulta spondylocostal dysostosis 3 spondylocostal dysostosis spondylolisthesis systemic primary carnitine deficiency disease tuberous sclerosis umbilical hernia
10400	phosphatidylethanolamine N-methyltransferase	PEMT Aliases: PEMPT PEMT2	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 Chanarin-Dorfman syndrome Down syndrome Pick's disease Reye syndrome arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis bladder carcinoma breast cancer breast carcinoma cancer capillary disease cerebral degeneration choline deficiency disease coronary artery disease diabetes mellitus diabetic ketoacidosis gallbladder disease hepatocellular carcinoma hereditary hemorrhagic telangiectasia homocystinuria liver cancer liver carcinoma liver cirrhosis liver disease obesity schizophrenia skin benign neoplasm skin cancer steatotic liver disease telangiectasis type 2 diabetes mellitus urinary bladder cancer
23175	lipin 1	LPIN1 Aliases: KIAA0188 phosphatidate phosphatase LPIN1	Homo sapiens (human)	46,XY sex reversal Charcot-Marie-Tooth disease X-linked dominant 1 Charcot-Marie-Tooth disease X-linked dominant 6 Charcot-Marie-Tooth disease X-linked recessive 2 Charcot-Marie-Tooth disease X-linked recessive 3 Charcot-Marie-Tooth disease X-linked recessive 4 Charcot-Marie-Tooth disease X-linked recessive 5 Charcot-Marie-Tooth disease axonal type 2C Charcot-Marie-Tooth disease axonal type 2F Charcot-Marie-Tooth disease axonal type 2H Charcot-Marie-Tooth disease axonal type 2K Charcot-Marie-Tooth disease axonal type 2L Charcot-Marie-Tooth disease axonal type 2N Charcot-Marie-Tooth disease axonal type 2O Charcot-Marie-Tooth disease axonal type 2P Charcot-Marie-Tooth disease axonal type 2Q Charcot-Marie-Tooth disease axonal type 2T Charcot-Marie-Tooth disease axonal type 2U Charcot-Marie-Tooth disease dominant intermediate A Charcot-Marie-Tooth disease dominant intermediate B Charcot-Marie-Tooth disease dominant intermediate C Charcot-Marie-Tooth disease dominant intermediate D Charcot-Marie-Tooth disease dominant intermediate E Charcot-Marie-Tooth disease dominant intermediate F Charcot-Marie-Tooth disease recessive intermediate B Charcot-Marie-Tooth disease recessive intermediate C Charcot-Marie-Tooth disease recessive intermediate D Charcot-Marie-Tooth disease type 1A Charcot-Marie-Tooth disease type 1B Charcot-Marie-Tooth disease type 1C Charcot-Marie-Tooth disease type 1D Charcot-Marie-Tooth disease type 1E Charcot-Marie-Tooth disease type 1F Charcot-Marie-Tooth disease type 2A1 Charcot-Marie-Tooth disease type 2A2A Charcot-Marie-Tooth disease type 2B1 Charcot-Marie-Tooth disease type 2B2 Charcot-Marie-Tooth disease type 2B Charcot-Marie-Tooth disease type 2D Charcot-Marie-Tooth disease type 2E Charcot-Marie-Tooth disease type 2I Charcot-Marie-Tooth disease type 2J Charcot-Marie-Tooth disease type 2R Charcot-Marie-Tooth disease type 2Y Charcot-Marie-Tooth disease type 3 Charcot-Marie-Tooth disease type 4A Charcot-Marie-Tooth disease type 4B1 Charcot-Marie-Tooth disease type 4B2 Charcot-Marie-Tooth disease type 4B3 Charcot-Marie-Tooth disease type 4C Charcot-Marie-Tooth disease type 4D Charcot-Marie-Tooth disease type 4E Charcot-Marie-Tooth disease type 4F Charcot-Marie-Tooth disease type 4G Charcot-Marie-Tooth disease type 4H Charcot-Marie-Tooth disease type 4J Charcot-Marie-Tooth disease type 4K Charcot-Marie-Tooth disease Pearson syndrome Richter's syndrome Zollinger-Ellison syndrome abdominal obesity-metabolic syndrome 1 acute kidney failure adrenoleukodystrophy agenesis of the corpus callosum with peripheral neuropathy breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma cardiovascular system disease cervix uteri carcinoma in situ chronic kidney disease chronic lymphocytic leukemia colitis colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma common wart congenital generalized lipodystrophy type 1 congenital generalized lipodystrophy type 2 congenital generalized lipodystrophy type 3 congenital generalized lipodystrophy type 4 diabetes mellitus diabetic ketoacidosis embryoma end stage renal disease essential hypertension familial periodic paralysis fibromyalgia gastroenteritis gestational diabetes glucose intolerance heart disease hepatoblastoma hepatocellular carcinoma hereditary neuropathy with liability to pressure palsies hyperinsulinism hypertension ileitis ileocolitis isolated elevated serum creatine phosphokinase levels large intestine cancer lipid metabolism disorder lipoatrophic diabetes mellitus lipodystrophy liver cancer lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma middle cerebral artery infarction morbid obesity motor peripheral neuropathy myoglobinuria myopathy myositis neuropathy obesity obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum peripheral nervous system disease polycystic ovary syndrome polyneuropathy prediabetes syndrome prostate cancer prostate carcinoma retinitis pigmentosa 9 sarcomatoid carcinoma steatotic liver disease type 2 diabetes mellitus very long chain acyl-CoA dehydrogenase deficiency
64768	inositol-pentakisphosphate 2-kinase	IPPK Aliases: FLJ13163 INSP5K2 IP5K IPK1	Homo sapiens (human)	diabetic ketoacidosis obsolete type 1 diabetes mellitus 9 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
64581	C-type lectin domain containing 7A	CLEC7A Aliases: CD369 DECTIN-1 SCARE2 hDectin-1	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 Behcet's disease Bloch-Sulzberger syndrome Kawasaki disease Meier-Gorlin syndrome 1 Meier-Gorlin syndrome Pick's disease Reye syndrome acquired hyperkeratosis acute myeloid leukemia adult-onset Still's disease allergic asthma amyloidosis angular cheilitis arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy aspergillosis asthma atherosclerosis atopic dermatitis autism spectrum disorder autistic disorder autoimmune disease autoimmune lymphoproliferative syndrome autoimmune polyendocrine syndrome type 1 autoimmune polyendocrine syndrome bacterial infectious disease bacterial sepsis black piedra blastomycosis cancer candidiasis cerebral degeneration cheilitis cholesteatoma chromoblastomycosis chronic mucocutaneous candidiasis chronic obstructive pulmonary disease chronic ulcer of skin coccidioidomycosis colitis congenital intrinsic factor deficiency coronary artery disease cryptococcosis cutaneous leishmaniasis cystic fibrosis dermatitis dermatomycosis dermatophytosis diverticulitis embryoma epilepsy exanthem fungal infectious disease gastroenteritis granuloma annulare hepatitis B hepatitis hepatocellular carcinoma histoplasmosis hypomelanosis of Ito ileitis ileocolitis immune system disease inflammatory bowel disease 1 inflammatory bowel disease influenza intrinsic asthma keratitis keratoconjunctivitis lip disease liver cancer liver carcinoma liver cirrhosis lupus nephritis male infertility mycotic corneal ulcer nutmeg liver obesity oral candidiasis osteoarthritis pancreatic cancer pancreatic carcinoma paracoccidioidomycosis parapsoriasis parasitic helminthiasis infectious disease patent ductus arteriosus pneumocystosis pneumonia polyp of middle ear psoriasis pustulosis of palm and sole rheumatoid arthritis shigellosis sporotrichosis superficial mycosis systemic lupus erythematosus tinea favosa tuberculosis ulcerative colitis urinary tract obstruction vasculitis visual epilepsy vulvovaginal candidiasis white piedra
81035	collectin subfamily member 12	COLEC12 Aliases: CL-P1 SCARA4 SRCL	Homo sapiens (human)	abdominal obesity-metabolic syndrome 1 arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis diabetes mellitus familial periodic paralysis multiple sclerosis myopathy substance abuse substance-related disorder type 2 diabetes mellitus
23545	ATPase H+ transporting V0 subunit a2	ATP6V0A2 Aliases: ATP6N1D ATP6a2 J6B7 RTF Stv1 TJ6 TJ6M TJ6s V-ATPase subunit a2 V-type proton ATPase 116 kDa subunit a2 Vph1 a2 a2V infantile malignant osteopetrosis regeneration and tolerance factor	Homo sapiens (human)	Crohn's colitis Crohn's disease Dandy-Walker syndrome Ehlers-Danlos syndrome Hailey-Hailey disease Joubert syndrome Laron syndrome Miller-Dieker lissencephaly syndrome Rothmund-Thomson syndrome achondroplasia agnosia alopecia aortic valve disease 1 aortic valve disease 2 aortic valve stenosis arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis 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 autosomal recessive osteopetrosis 1 autosomal recessive osteopetrosis 7 bacterial sepsis bicuspid aortic valve disease bone disease breast cancer breast carcinoma cancer cartilage disease clubfoot complex cortical dysplasia with other brain malformations 1 complex cortical dysplasia with other brain malformations 7 congenital disorder of glycosylation Il congenital disorder of glycosylation type I congenital disorder of glycosylation congenital generalized lipodystrophy type 1 congenital generalized lipodystrophy type 2 congenital generalized lipodystrophy type 3 congenital generalized lipodystrophy type 4 connective tissue disease coronary artery disease cortical dysplasia-focal epilepsy syndrome cryptococcosis cryptorchidism cutis laxa dementia dental caries dentin caries developmental coordination disorder diabetic cataract diabetic retinopathy encephalitis encephalomyelitis epilepsy essential hypertension generalized atherosclerosis geroderma osteodysplasticum giant cell glioblastoma glioblastoma gliosarcoma high grade glioma hydranencephaly hypertension hypertropia inflammatory bowel disease 1 inflammatory bowel disease inguinal hernia intellectual disability intracranial aneurysm learning disability lipoatrophic diabetes mellitus lipodystrophy lissencephaly lung disease mal de Meleda male infertility mechanical strabismus microcephaly mixed glioma myelitis myopia omphalocele ophthalmoplegia osteogenesis imperfecta osteopetrosis osteosclerosis placental insufficiency platelet-type bleeding disorder 11 platelet-type bleeding disorder 3 platelet-type bleeding disorder 8 platelet-type bleeding disorder 9 pontocerebellar hypoplasia type 2D pontocerebellar hypoplasia type 7 pontocerebellar hypoplasia type 8 pontocerebellar hypoplasia type 9 pulmonary emphysema renal tubular acidosis restrictive dermopathy scoliosis septooptic dysplasia short-rib thoracic dysplasia 14 with polydactyly status epilepticus strabismus syndromic X-linked intellectual disability Najm type ulcerative colitis umbilical hernia visual epilepsy von Willebrand's disease wrinkly skin syndrome
5279	phosphatidylinositol glycan anchor biosynthesis class C	PIGC Aliases: GPI2 PIG-C phosphatidylinositol N-acetylglucosaminyltransferase subunit C	Homo sapiens (human)	Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease agnosia cerebral degeneration choreatic disease depressive disorder developmental coordination disorder dysthymic disorder dystonia epilepsy focal epilepsy glycosylphosphatidylinositol biosynthesis defect 16 intellectual disability learning disability lingual-facial-buccal dyskinesia major depressive disorder melancholic depression microcephaly neurotic disorder nicotine dependence obsolete infantile epileptic encephalopathy obsolete melancholia partial motor epilepsy stereotypic movement disorder syndromic X-linked intellectual disability 94 syndromic X-linked intellectual disability type 10 visual epilepsy
63827	brevican	BCAN Aliases: BEHAB CSPG7 MGC13038 brevican proteoglycan chondroitin sulfate proteoglycan 7	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 Pick's disease Reye syndrome bladder carcinoma central nervous system cancer cerebral degeneration giant cell glioblastoma glioblastoma gliosarcoma high grade glioma middle cerebral artery infarction mixed glioma retinitis pigmentosa urinary bladder cancer
143903	layilin	LAYN Aliases: FLJ30977 FLJ31092	Homo sapiens (human)	arthritis arthropathy bronchus cancer bronchus carcinoma cancer chronic obstructive pulmonary disease colitis colon cancer colonic benign neoplasm colorectal cancer embryoma gastroenteritis gliosarcoma glomerulonephritis high grade glioma ileitis ileocolitis kidney disease large intestine cancer lung cancer lung carcinoma mixed glioma nephritis osteoarthritis
6383	syndecan 2	SDC2 Aliases: CD362 SYND2 fibroglycan syndecan proteoglycan 2	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 CST3-related cerebral amyloid angiopathy Duchenne muscular dystrophy Joubert syndrome Klatskin's tumor Marfan syndrome Miller-Dieker lissencephaly syndrome Pick's disease Reye syndrome adenocarcinoma adenoma adult fibrosarcoma ameloblastoma anthracosilicosis asbestosis autistic disorder autosomal dominant Emery-Dreifuss muscular dystrophy 2 autosomal dominant limb-girdle muscular dystrophy type 1 autosomal dominant limb-girdle muscular dystrophy type 1H autosomal dominant limb-girdle muscular dystrophy type 2 autosomal dominant limb-girdle muscular dystrophy type 3 autosomal dominant limb-girdle muscular dystrophy autosomal recessive limb-girdle muscular dystrophy type 2A autosomal recessive limb-girdle muscular dystrophy type 2B autosomal recessive limb-girdle muscular dystrophy type 2C autosomal recessive limb-girdle muscular dystrophy type 2D autosomal recessive limb-girdle muscular dystrophy type 2E autosomal recessive limb-girdle muscular dystrophy type 2F autosomal recessive limb-girdle muscular dystrophy type 2G autosomal recessive limb-girdle muscular dystrophy type 2H autosomal recessive limb-girdle muscular dystrophy type 2I autosomal recessive limb-girdle muscular dystrophy type 2J autosomal recessive limb-girdle muscular dystrophy type 2K autosomal recessive limb-girdle muscular dystrophy type 2L autosomal recessive limb-girdle muscular dystrophy type 2M autosomal recessive limb-girdle muscular dystrophy type 2N autosomal recessive limb-girdle muscular dystrophy type 2O autosomal recessive limb-girdle muscular dystrophy type 2P autosomal recessive limb-girdle muscular dystrophy type 2Q autosomal recessive limb-girdle muscular dystrophy type 2S autosomal recessive limb-girdle muscular dystrophy type 2T autosomal recessive limb-girdle muscular dystrophy type 2U autosomal recessive limb-girdle muscular dystrophy type 2Y autosomal recessive limb-girdle muscular dystrophy benign mesothelioma bone cancer bone osteosarcoma brain disease breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer central nervous system cancer cerebral amyloid angiopathy cerebral degeneration childhood osteosarcoma cholangiocarcinoma chondrosarcoma cleft lip cleft palate colitis colon adenocarcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma complex cortical dysplasia with other brain malformations 1 complex cortical dysplasia with other brain malformations 7 congenital muscular dystrophy congestive heart failure diabetes mellitus diabetic ketoacidosis disease of mental health distal myopathy dysplastic nevus syndrome embryoma epidermolysis bullosa esophagus squamous cell carcinoma facioscapulohumeral muscular dystrophy 1 facioscapulohumeral muscular dystrophy familial hypercholesterolemia familial hyperlipidemia familial nephrotic syndrome fibrodysplasia ossificans progressiva fibrosarcoma follicular adenoma fragile X syndrome gallbladder cancer gallbladder carcinoma gastroenteritis giant cell glioblastoma glioblastoma gliosarcoma glomerulonephritis hepatitis B hepatitis C hepatocellular carcinoma hereditary multiple exostoses high grade glioma hydranencephaly hypereosinophilic syndrome hyperglycemia idiopathic interstitial pneumonia idiopathic pulmonary fibrosis ileitis ileocolitis interstitial nephritis intrahepatic cholangiocarcinoma kidney disease kidney failure large intestine cancer limb-girdle muscular dystrophy lipoid nephrosis lissencephaly liver cancer liver cirrhosis lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lupus erythematosus lupus nephritis malignant mesothelioma melanoma membranous glomerulonephritis microcystic adenoma microphthalmia mixed glioma muscular dystrophy myofibrillar myopathy 1 myofibrillar myopathy 3 myositis ossificans nephritis nephrosis nephrotic syndrome type 1 nephrotic syndrome obesity 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 obsolete hilar cholangiocellular carcinoma obsolete type 1 diabetes mellitus 9 oculopharyngeal muscular dystrophy osteosarcoma pancreatic adenocarcinoma papillary adenoma papillary carcinoma pneumonia pontocerebellar hypoplasia type 2D pontocerebellar hypoplasia type 7 pontocerebellar hypoplasia type 8 pontocerebellar hypoplasia type 9 postinflammatory pulmonary fibrosis proximal symphalangism psychotic disorder pulmonary fibrosis pyelitis pyelonephritis pyoureter renal infectious disease rheumatoid arthritis rippling muscle disease 2 scleroderma short-rib thoracic dysplasia 14 with polydactyly silicosis situs inversus skin melanoma skin squamous cell carcinoma squamous cell carcinoma syndromic X-linked intellectual disability Najm type systemic lupus erythematosus systemic scleroderma thyroid adenoma thyroid cancer thyroid gland carcinoma tongue squamous cell carcinoma tuberous sclerosis 1 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 uremia
9993	DiGeorge syndrome critical region gene 2	DGCR2 Aliases: DGS-C IDD KIAA0163 LAN SEZ-12 integral membrane protein DGCR2	Homo sapiens (human)	Bannayan-Riley-Ruvalcaba syndrome Baraitser-Winter syndrome Cowden syndrome DiGeorge syndrome Fraser syndrome Goldenhar syndrome Laron syndrome Moebius syndrome Muenke Syndrome Nance-Horan syndrome Nezelof syndrome Sakati-Nyhan syndrome Warburg micro syndrome 1 Warburg micro syndrome 2 Warburg micro syndrome 3 Warburg micro syndrome 4 Weissenbacher-Zweymuller syndrome achondroplasia acromegaly acute myocardial infarction adrenal gland cancer amyloidosis autism spectrum disorder autistic disorder autoimmune disease autoimmune lymphoproliferative syndrome bipolar disorder blepharophimosis branchiootic syndrome cancer cervix disease chronic interstitial cystitis congenital heart disease coronary thrombosis craniosynostosis degenerative disc disease delusional disorder diabetes mellitus diabetic ketoacidosis double outlet right ventricle duodenum cancer embryoma epilepsy heart cancer hyperpituitarism hypoparathyroidism-deafness-renal disease syndrome hypoparathyroidism immune system disease intellectual disability interstitial cystitis learning disability microcephaly myocardial infarction myotonic dystrophy type 1 neuroblastoma obsolete type 1 diabetes mellitus 9 orofaciodigital syndrome I orofaciodigital syndrome X osteoporosis paranoid schizophrenia pheochromocytoma primary biliary cholangitis prune belly syndrome pseudohypoparathyroidism schizophrenia silent myocardial infarction small intestine cancer 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 velocardiofacial syndrome ventricular septal defect visual epilepsy
84188	fatty acyl-CoA reductase 1	FAR1 Aliases: FLJ22728 SDR10E1 short chain dehydrogenase/reductase family 10E, member 1	Homo sapiens (human)	Charcot-Marie-Tooth disease type 5 MASA syndrome Mast syndrome SPOAN syndrome Troyer syndrome dermatitis hereditary spastic paraplegia 10 hereditary spastic paraplegia 11 hereditary spastic paraplegia 12 hereditary spastic paraplegia 13 hereditary spastic paraplegia 14 hereditary spastic paraplegia 15 hereditary spastic paraplegia 16 hereditary spastic paraplegia 17 hereditary spastic paraplegia 18 hereditary spastic paraplegia 19 hereditary spastic paraplegia 23 hereditary spastic paraplegia 24 hereditary spastic paraplegia 25 hereditary spastic paraplegia 26 hereditary spastic paraplegia 27 hereditary spastic paraplegia 28 hereditary spastic paraplegia 29 hereditary spastic paraplegia 2 hereditary spastic paraplegia 30 hereditary spastic paraplegia 31 hereditary spastic paraplegia 32 hereditary spastic paraplegia 34 hereditary spastic paraplegia 35 hereditary spastic paraplegia 36 hereditary spastic paraplegia 37 hereditary spastic paraplegia 38 hereditary spastic paraplegia 39 hereditary spastic paraplegia 3A hereditary spastic paraplegia 41 hereditary spastic paraplegia 42 hereditary spastic paraplegia 43 hereditary spastic paraplegia 44 hereditary spastic paraplegia 45 hereditary spastic paraplegia 46 hereditary spastic paraplegia 48 hereditary spastic paraplegia 49 hereditary spastic paraplegia 4 hereditary spastic paraplegia 53 hereditary spastic paraplegia 54 hereditary spastic paraplegia 55 hereditary spastic paraplegia 56 hereditary spastic paraplegia 57 hereditary spastic paraplegia 5A hereditary spastic paraplegia 61 hereditary spastic paraplegia 62 hereditary spastic paraplegia 63 hereditary spastic paraplegia 64 hereditary spastic paraplegia 6 hereditary spastic paraplegia 72A hereditary spastic paraplegia 73 hereditary spastic paraplegia 75 hereditary spastic paraplegia 77 hereditary spastic paraplegia 7 hereditary spastic paraplegia 8 hereditary spastic paraplegia 9A hereditary spastic paraplegia 9B hereditary spastic paraplegia microcephaly rhizomelic chondrodysplasia punctata type 1 rhizomelic chondrodysplasia punctata rhizomelic chondrodysplasia punctate type 4
5207	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	PFKFB1	Homo sapiens (human)	Zollinger-Ellison syndrome cancer hyperinsulinism stomach cancer
4913	nth like DNA glycosylase 1	NTHL1 Aliases: NTH1 OCTS3	Homo sapiens (human)	B-cell lymphoma Fanconi anemia complementation group D2 Fanconi anemia Langerhans-cell histiocytosis acoustic neuroma actinic keratosis adenocarcinoma adenoma angiomatous meningioma autosomal recessive intellectual developmental disorder basal cell carcinoma benign meningioma breast adenocarcinoma breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma cerebral convexity meningioma clear cell meningioma colon cancer colonic benign neoplasm colorectal cancer colorectal carcinoma dermatosis papulosa nigra duodenum adenocarcinoma embryoma endometrial cancer endometrial carcinoma familial adenomatous polyposis 1 familial adenomatous polyposis 3 familial adenomatous polyposis fibrous meningioma follicular adenoma intraorbital meningioma intraventricular meningioma inverted follicular keratosis islet cell tumor large intestine cancer laryngeal carcinoma larynx cancer lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lymphoma melanoacanthoma meningioma meningothelial meningioma microcystic adenoma microcystic meningioma non-Hodgkin lymphoma obsolete ymphosarcoma olfactory groove meningioma ovarian cyst pancreatic adenocarcinoma papillary adenoma parasagittal meningioma pituitary adenoma psammomatous meningioma rectal benign neoplasm rectum cancer reticulosarcoma sarcomatoid carcinoma seborrheic dermatitis seborrheic keratosis secretory meningioma skin benign neoplasm skin cancer skin disease spinal meningioma squamous cell carcinoma stomach cancer stomach carcinoma thyroid adenoma thyroid cancer thyroid gland carcinoma thyroid gland follicular carcinoma tongue squamous cell carcinoma transitional meningioma tuberous sclerosis 2 tuberous sclerosis urinary bladder cancer uterine corpus cancer
79868	ALG13 UDP-N-acetylglucosaminyltransferase subunit	ALG13 Aliases: CDG1S FLJ23018 MDS031 N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase TDRD13 YGL047W tudor domain containing 13	Homo sapiens (human)	Bell's palsy Meckel's diverticulum West syndrome agnosia attention deficit hyperactivity disorder autistic disorder blindness cerebral degeneration choreatic disease clubfoot congenital disorder of glycosylation type I congenital disorder of glycosylation congenital nystagmus craniosynostosis developmental and epileptic encephalopathy 36 dissociated nystagmus epilepsy facial nerve disease facial paralysis focal segmental glomerulosclerosis hypophosphatemia intellectual disability learning disability lung cancer lung non-small cell carcinoma microcephaly non-syndromic X-linked intellectual disability obesity obsolete infantile epileptic encephalopathy optic atrophy pathologic nystagmus placental insufficiency pyloric stenosis spontaneous ocular nystagmus syndromic X-linked intellectual disability 94 syndromic X-linked intellectual disability type 10 visual epilepsy
5336	phospholipase C gamma 2	PLCG2	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 Burkitt lymphoma CINCA Syndrome Creutzfeldt-Jakob disease Crohn's colitis Crohn's disease Hailey-Hailey disease Lewy body dementia Muckle-Wells syndrome Pick's disease Reye syndrome Richter's syndrome Rothmund-Thomson syndrome acute lymphoblastic leukemia acute myeloid leukemia adenosarcoma age related macular degeneration allergic rhinitis angioedema autoimmune disease autoimmune lymphoproliferative syndrome autoimmune thyroiditis 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 bone osteosarcoma breast cancer breast carcinoma bronchiolitis cancer candidiasis cellulitis central nervous system lymphoma cerebral degeneration cherubism childhood osteosarcoma childhood type dermatomyositis chronic lymphocytic leukemia coronary artery disease cutis laxa degeneration of macula and posterior pole dermatomyositis diffuse large B-cell lymphoma embryoma exostosis familial adenomatous polyposis 1 familial adenomatous polyposis familial cold autoinflammatory syndrome 1 familial cold autoinflammatory syndrome 3 familial cold autoinflammatory syndrome 4 familial cold autoinflammatory syndrome granuloma annulare hepatocellular carcinoma immune system disease inflammatory bowel disease 1 inflammatory bowel disease interstitial lung disease islet cell tumor kidney cancer leukemia lipoid nephrosis liver cancer lymphoma lymphoplasmacytic lymphoma macroglobulinemia macular degeneration mal de Meleda nephroblastoma neurodegenerative disease obsolete lymphoplasmacytic lymphoma obsolete ymphosarcoma oral candidiasis osteoporosis osteosarcoma progressive supranuclear palsy restrictive dermopathy rheumatoid arthritis stomach cancer thrombophilia ulcerative colitis urticaria vasomotor rhinitis vitiligo
8395	phosphatidylinositol-4-phosphate 5-kinase type 1 beta	PIP5K1B Aliases: MSS4 STM7	Homo sapiens (human)	Friedreich ataxia 1 Friedreich ataxia allergic asthma asthma cancer chronic kidney disease diabetes mellitus diabetic ketoacidosis embryoma intrinsic asthma osteoporosis pancreatic cancer pancreatic carcinoma type 2 diabetes mellitus
3074	hexosaminidase subunit beta	HEXB Aliases: beta-hexosaminidase subunit beta	Homo sapiens (human)	GM2 gangliosidosis, AB variant GM2 gangliosidosis HCL-V Sandhoff disease Schimke immuno-osseous dysplasia Tay-Sachs disease Unverricht-Lundborg syndrome acquired immunodeficiency syndrome acute kidney failure allergic asthma amyotrophic lateral sclerosis type 1 amyotrophic lateral sclerosis type 2 amyotrophic lateral sclerosis type 4 anhidrosis anterior horn cell disease asthma autosomal recessive distal hereditary motor neuronopathy 1 blindness central nervous system cancer colon cancer colon carcinoma colonic benign neoplasm colorectal cancer congenital nystagmus dissociated nystagmus early myoclonic encephalopathy epilepsy gangliosidosis gliosarcoma hairy cell leukemia high grade glioma human immunodeficiency virus infectious disease hypohidrosis impotence inherited metabolic disorder intrinsic asthma kidney disease large intestine cancer lateral sclerosis liver cirrhosis lysosomal storage disease mixed glioma motor neuron disease multiple system atrophy neurodegenerative disease pathologic nystagmus postural orthostatic tachycardia syndrome premature ejaculation psychologic dyspareunia retinal disease retinitis rheumatoid arthritis spinal muscular atrophy spontaneous ocular nystagmus visual epilepsy
10924	sphingomyelin phosphodiesterase acid like 3A	SMPDL3A Aliases: ASM3A ASML3a FLJ20177 acid sphingomyelinase-like phosphodiesterase 3a yR36GH4.1	Homo sapiens (human)	Niemann-Pick disease endometriosis of ovary endometriosis of uterus endometriosis sphingolipidosis urinary bladder cancer

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