GlyCosmos Portal

Homo sapiens (human)

Summary

Taxonomy ID: 9606
PubChem Taxonomy: 9606

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

Displaying entries **726 - 750** of **1582** in total

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Gene ID	Gene Name	Gene Symbol	Disease Ontology ▲
57511	component of oligomeric golgi complex 6	COG6 COD2 KIAA1134	Gilbert syndrome acquired hyperkeratosis allergic asthma anemia anhidrosis asthma bilirubin metabolic disorder blood coagulation disease cerebral degeneration cholestasis congenital disorder of glycosylation type II congenital disorder of glycosylation type IIl congenital disorder of glycosylation coronary artery disease dental caries dental enamel hypoplasia dentin caries developmental and epileptic encephalopathy 36 epilepsy gastroenteritis gastrointestinal system disease hydrocephalus hypohidrosis intellectual disability intestinal disease intrinsic asthma juvenile rheumatoid arthritis learning disability leiomyoma macrocytic anemia microcephaly myofibroma nonepidermolytic palmoplantar keratoderma palmoplantar keratosis pancytopenia parapsoriasis placental insufficiency primary biliary cholangitis primary immunodeficiency disease proctitis psoriasis pustulosis of palm and sole rheumatoid arthritis systemic lupus erythematosus thrombocytopenia uterine fibroid visual epilepsy
229	aldolase, fructose-bisphosphate B	ALDOB	Gilbert syndrome autoimmune hepatitis bilirubin metabolic disorder blood coagulation disease cancer cataract chromophobe renal cell carcinoma chronic kidney disease clear cell renal cell carcinoma collecting duct carcinoma colorectal cancer colorectal carcinoma diabetes mellitus diarrhea epilepsy hepatitis hepatocellular carcinoma hereditary fructose intolerance syndrome hyperglycemia hyperuricemia hypoglycemia hypophosphatemia inflammatory bowel disease 1 inflammatory bowel disease intellectual disability kwashiorkor lactic acidosis large intestine cancer learning disability liver benign neoplasm liver cancer liver cirrhosis marasmus nonpapillary renal cell carcinoma nutrition disease obesity obsolete constipation obsolete inherited blood coagulation disease papillary renal cell carcinoma peritonitis protein-energy malnutrition rectal benign neoplasm rectum adenocarcinoma rectum cancer renal carcinoma renal cell carcinoma renal tubular acidosis sarcomatoid renal cell carcinoma steatotic liver disease stomach cancer stomach carcinoma type 2 diabetes mellitus ulcerative colitis visual epilepsy
27255	contactin 6	CNTN6 NB-3 neural adhesion molecule	Gilles de la Tourette syndrome Hirschsprung's disease Parkinson's disease 2 acquired immunodeficiency syndrome adenoid cystic carcinoma alcohol dependence alcohol use disorder anorexia nervosa attention deficit hyperactivity disorder autism spectrum disorder autistic disorder bipolar disorder breast cancer communicating hydrocephalus cone-rod dystrophy 2 cone-rod dystrophy differentiated thyroid gland carcinoma epilepsy hydrocephalus intellectual disability learning disability obstructive hydrocephalus ovarian carcinoma salivary gland adenoid cystic carcinoma schizophrenia senile degeneration of brain systemic lupus erythematosus
79796	ALG9 alpha-1,2-mannosyltransferase	ALG9 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	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
130574	LY6/PLAUR domain containing 6	LYPD6 MGC52057	Gilles de la Tourette syndrome anxiety disorder generalized anxiety disorder phobic disorder
113026	phospholipase C delta 3	PLCD3	Goldenhar syndrome acquired immunodeficiency syndrome alcohol dependence alcohol use disorder arteriosclerotic cardiovascular disease atherosclerosis coronary artery disease human immunodeficiency virus infectious disease microphthalmia nasopharynx carcinoma obsolete Matthew-Wood syndrome senile cataract
3820	killer cell lectin like receptor B1	KLRB1 CD161 CLEC5B NKR-P1 NKR-P1A hNKR-P1A natural killer cell surface protein P1A	Goodpasture syndrome Takayasu's arteritis acquired immunodeficiency syndrome acute promyelocytic leukemia aggressive NK-cell leukemia allergic asthma arthritis arthropathy asthma autoimmune disease autoimmune lymphoproliferative syndrome type 2A autoimmune lymphoproliferative syndrome type 2B autoimmune lymphoproliferative syndrome type 3 autoimmune lymphoproliferative syndrome bone disease bronchus cancer bronchus carcinoma cancer cartilage disease cataract connective tissue disease eclampsia embryoma familial multiple nevi flammei granulomatosis with polyangiitis hepatitis A hepatitis B hepatitis C hepatitis hepatocellular carcinoma hidradenitis suppurativa hidradenitis human immunodeficiency virus infectious disease immune system disease influenza intermittent claudication intrinsic asthma liver cancer lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lymphoproliferative syndrome 1 lymphoproliferative syndrome 2 melanoma mitral valve stenosis multiple myeloma multiple sclerosis myocarditis osteoarthritis peeling skin syndrome periodontitis placental insufficiency pneumonia polyarteritis nodosa pompholyx prostate cancer prostate carcinoma psoriatic arthritis rheumatoid arthritis scleroderma skin melanoma spondyloarthropathy spondylosis systemic Epstein-Barr virus positive T-cell lymphoma of childhood systemic lupus erythematosus systemic scleroderma tuberculosis urinary bladder cancer viral infectious disease
8821	inositol polyphosphate-4-phosphatase type II B	INPP4B	Goodpasture syndrome Takayasu's arteritis acute monocytic leukemia acute myeloid leukemia adenocarcinoma adenoma adult lymphoma amyotrophic lateral sclerosis type 1 amyotrophic lateral sclerosis type 6 benign breast phyllodes tumor bladder carcinoma bone osteosarcoma breast adenocarcinoma breast cancer breast carcinoma breast fibroadenosis breast fibrocystic disease breast malignant phyllodes tumor bronchus cancer bronchus carcinoma cancer carcinoma central nervous system lymphoma cervical adenocarcinoma cervical cancer cervix carcinoma childhood leukemia childhood lymphoma childhood osteosarcoma chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma cribriform carcinoma embryoma goiter granular cell carcinoma granulomatosis with polyangiitis hepatocellular carcinoma inflammatory breast carcinoma large intestine cancer laryngeal benign neoplasm laryngeal carcinoma larynx cancer leukemia liver cancer lung benign neoplasm lung cancer lung carcinoma lung squamous cell carcinoma lymphoma melanoma microglandular adenosis multiple sclerosis nasopharynx carcinoma nonpapillary renal cell carcinoma obsolete ymphosarcoma osteoporosis osteosarcoma ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma papillary adenocarcinoma papillary renal cell carcinoma polyarteritis nodosa prostate cancer prostate carcinoma renal carcinoma renal cell carcinoma sarcomatoid carcinoma sarcomatoid renal cell carcinoma skin melanoma thyroid adenoma thyroid cancer thyroid gland carcinoma thyroid gland disease thyroid gland papillary carcinoma tubular adenocarcinoma urinary bladder cancer
7358	UDP-glucose 6-dehydrogenase	UGDH GDH UDP-GlcDH UDPGDH UGD uridine-diphospho glucose dehydrogenase	Graves' disease Laron syndrome Zollinger-Ellison syndrome achondroplasia beta thalassemia breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer cholangiocarcinoma developmental and epileptic encephalopathy 84 diarrhea enophthalmos giant cell glioblastoma giardiasis glioblastoma hepatocellular carcinoma high grade glioma hyperinsulinism hyperthyroidism hypoglycemia intrahepatic cholangiocarcinoma liver cancer lung benign neoplasm lung cancer lung carcinoma obsolete exophthalmos orbital disease peripheral artery disease placental insufficiency primary hyperoxaluria thalassemia thyrotoxicosis
10678	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2	B3GNT2 B3GN-T1 B3GN-T2 B3GNT-2 BETA3GNT	Graves' disease Walker-Warburg syndrome acute myocardial infarction cancer congenital muscular dystrophy-dystroglycanopathy type A1 coronary thrombosis hyperthyroidism myocardial infarction parapsoriasis prostate cancer prostate carcinoma psoriasis pustulosis of palm and sole schizophrenia silent myocardial infarction thyrotoxicosis transitional cell carcinoma
6482	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	ST3GAL1 CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase SIATFL ST3Gal I ST3GalA.1 ST3O	Graves' disease bipolar disorder bladder carcinoma breast cancer breast carcinoma cancer cervical squamous cell carcinoma chronic myeloid leukemia embryoma hyperthyroidism mucopolysaccharidosis IV mucopolysaccharidosis IVA ovarian cancer ovarian carcinoma ovary serous adenocarcinoma prostate cancer prostate carcinoma psychotic disorder schizoaffective disorder schizophrenia schizophreniform disorder scleroderma skin squamous cell carcinoma systemic scleroderma thyrotoxicosis urinary bladder cancer
2675	GDNF family receptor alpha 2	GFRA2 GDNFRB NTNRA RETL2 TRNR2	Grn-related frontotemporal lobar degeneration with Tdp43 inclusions Hirschsprung's disease Parkinsonism adenocarcinoma adenoma bipolar disorder cancer colorectal cancer colorectal carcinoma follicular adenoma frontotemporal dementia hepatocellular carcinoma large intestine cancer lingual-facial-buccal dyskinesia liver cancer microcystic adenoma neuroblastoma neuropathy pancreatic cancer pancreatic carcinoma papillary adenoma peripheral nervous system disease polyneuropathy preretinal fibrosis schizophrenia secondary Parkinson disease
23098	sterile alpha and TIR motif containing 1	SARM1 KIAA0524 SAMD2 SARM	Grn-related frontotemporal lobar degeneration with Tdp43 inclusions Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease alternating hemiplegia of childhood amyotrophic lateral sclerosis type 1 amyotrophic lateral sclerosis type 2 amyotrophic lateral sclerosis type 4 amyotrophic lateral sclerosis type 6 amyotrophic lateral sclerosis anterior horn cell disease autonomic neuropathy autosomal recessive distal hereditary motor neuronopathy 1 bacterial sepsis central nervous system disease chronic obstructive pulmonary disease disease of metabolism frontotemporal dementia late onset Parkinson's disease lateral sclerosis motor neuron disease nervous system disease neurodegenerative disease neuropathy peripheral nervous system disease polyneuropathy progressive muscular atrophy prostate cancer prostate carcinoma steatotic liver disease stomach cancer stomach carcinoma substance abuse substance-related disorder
84750	fucosyltransferase 10	FUT10 alpha (1,3) fucosyltransferase	Grn-related frontotemporal lobar degeneration with Tdp43 inclusions amnestic disorder bronchus cancer bronchus carcinoma colon adenocarcinoma dissociative amnesia frontotemporal dementia hepatocellular carcinoma liver cancer lung benign neoplasm lung cancer lung carcinoma retrograde amnesia
26035	glucuronic acid epimerase	GLCE HSEPI KIAA0836 heparan sulfate epimerase	Grn-related frontotemporal lobar degeneration with Tdp43 inclusions amyotrophic lateral sclerosis breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer cerebrovascular disease embryoma essential hypertension frontotemporal dementia hypertension luminal breast carcinoma A lung benign neoplasm lung cancer lung carcinoma lung small cell carcinoma nodular prostate progressive muscular atrophy prostate cancer prostate carcinoma prostate disease prostatic adenoma
51477	inositol-3-phosphate synthase 1	ISYNA1 INOS IPS Ino1 myo-inositol 1-phosphate synthase	Guillain-Barre syndrome Hodgkin's granuloma Hodgkin's lymphoma, lymphocytic depletion Hodgkin's lymphoma, lymphocytic-histiocytic predominance Hodgkin's lymphoma, mixed cellularity Hodgkin's lymphoma Loeffler syndrome Miller Fisher syndrome Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Plasmodium falciparum malaria Richter's syndrome Stiff-Person syndrome Unverricht-Lundborg syndrome Zika fever acute lymphoblastic leukemia acute myocardial infarction acute pancreatitis adenocarcinoma adenoid cystic carcinoma adenoma adult lymphoma allergic asthma arteriosclerotic cardiovascular disease arthritis arthropathy asthma atherosclerosis atrial fibrillation azoospermia bacterial sepsis bladder carcinoma blepharospasm brain stem infarction breast cancer breast carcinoma bronchiectasis bronchiolitis bronchus cancer bronchus carcinoma cancer celiac disease central nervous system cancer central nervous system lymphoma cerebral artery occlusion cerebral infarction cerebral malaria cerebrovascular disease childhood lymphoma chronic fatigue syndrome chronic lymphocytic leukemia chronic obstructive pulmonary disease colitis colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma congestive heart failure coronary artery disease coronary thrombosis cribriform carcinoma cystic fibrosis dentin sensitivity diabetes mellitus diabetic cataract diabetic ketoacidosis diabetic retinopathy disease of mental health early myoclonic encephalopathy embryoma encephalitis encephalomyelitis eosinophilic pneumonia epilepsy epithelioid sarcoma essential hypertension focal hand dystonia gallbladder cancer gallbladder carcinoma gallbladder disease gastroenteritis gliosarcoma glucocorticoid-remediable aldosteronism granular cell carcinoma head and neck squamous cell carcinoma hepatic coma hepatic encephalopathy hepatitis B hepatitis C hepatocellular carcinoma high grade glioma hypertension ileitis ileocolitis inclusion body myositis inflammatory bowel disease 1 inflammatory bowel disease influenza intrahepatic cholestasis of pregnancy intrinsic asthma large intestine cancer liver cancer liver cirrhosis liver disease lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung disease lymphoblastic lymphoma lymphoma malaria melanoma migraine mixed glioma multiple sclerosis myelitis myelomeningocele myocardial infarction myocarditis neuroendocrine carcinoma neuroendocrine tumor nodular prostate nutmeg liver obsolete type 1 diabetes mellitus 9 obsolete ymphosarcoma osteoarthritis pancreatitis parapsoriasis plasmacytoma pneumonia polycystic ovary syndrome polycythemia vera polycythemia portal hypertension pre-eclampsia primary cutaneous amyloidosis prostate cancer prostate carcinoma prostatic adenoma psoriasis psychotic disorder pulmonary emphysema pulmonary eosinophilia pustulosis of palm and sole renal osteodystrophy respiratory syncytial virus infectious disease retinal disease retinitis rheumatoid arthritis salivary gland adenoid cystic carcinoma salivary gland cancer sarcoma silent myocardial infarction skin benign neoplasm skin cancer skin melanoma spina bifida spindle cell sarcoma steatotic liver disease stomach cancer stomach carcinoma tethered spinal cord syndrome tongue squamous cell carcinoma transitional 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 ulcerative colitis ureteral obstruction urinary bladder cancer vascular disease viral infectious disease visual epilepsy vitiligo
55790	chondroitin sulfate N-acetylgalactosaminyltransferase 1	CSGALNACT1 CSGalNAcT-1 ChGn FLJ11264 chondroitin beta1,4 N-acetylgalactosaminyltransferase glucuronylgalactosylproteoglycan 4-beta-N- acetylgalactosaminyltransferase	Guillain-Barre syndrome Laron syndrome Miller Fisher syndrome achondroplasia anorexia nervosa breast cancer colon cancer colon carcinoma colonic benign neoplasm colorectal cancer diabetic ketoacidosis large intestine cancer melanoma multiple sclerosis obsolete type 1 diabetes mellitus 9 skin melanoma 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
27180	sialic acid binding Ig like lectin 9	SIGLEC9 CD329	Guillain-Barre syndrome Miller Fisher syndrome allergic asthma arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy asthma atherosclerosis cancer carcinoma chikungunya chronic obstructive pulmonary disease colorectal cancer colorectal carcinoma dengue hemorrhagic fever embryoma giant cell glioblastoma glioblastoma hepatitis high grade glioma intrinsic asthma large intestine cancer lung cancer lung non-small cell carcinoma melanoma pulmonary emphysema rheumatoid arthritis sarcomatoid carcinoma skin melanoma
2582	UDP-galactose-4-epimerase	GALE SDR1E1 UDP-glucose 4-epimerase short chain dehydrogenase/reductase family 1E, member 1	Guillain-Barre syndrome Miller Fisher syndrome benign familial infantile epilepsy benign familial neonatal epilepsy benign neonatal seizures classic galactosemia cystinuria galactokinase deficiency galactose epimerase deficiency galactosemia glucosephosphate dehydrogenase deficiency glycogen storage disease Ia glycogen storage disease stomach cancer stomach carcinoma thrombocytopenia tuberculosis
27090	ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4	ST6GALNAC4 SIAT3C ST6GALNACIV	Guillain-Barre syndrome Miller Fisher syndrome cancer thyroid gland follicular carcinoma
26229	beta-1,3-glucuronyltransferase 3	B3GAT3 GlcAT-I galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3 glucuronosyltransferase I	Hailey-Hailey disease Laron syndrome Larsen-like syndrome B3GAT3 type Marfan syndrome Rothmund-Thomson syndrome achondroplasia amblyopia aortic valve disease 1 aortic valve disease 2 aortic valve stenosis 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 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 bicuspid aortic valve disease buphthalmos cancer cleft palate cleidocranial dysplasia clubfoot communicating hydrocephalus congenital heart disease craniosynostosis cutis laxa esotropia geroderma osteodysplasticum glaucoma hepatocellular carcinoma humeroradial synostosis hydrocephalus hydrophthalmos hyperopia idiopathic interstitial pneumonia idiopathic pulmonary fibrosis isolated cleft palate juvenile glaucoma liver cancer liver carcinoma mal de Meleda mitral valve insufficiency mitral valve prolapse monocular esotropia mucopolysaccharidosis IV multiple epiphyseal dysplasia obstructive hydrocephalus osteochondrodysplasia osteoporosis patent foramen ovale postinflammatory pulmonary fibrosis postural orthostatic tachycardia syndrome pulmonary fibrosis radioulnar synostosis refractive error restrictive dermopathy scoliosis senile degeneration of brain situs inversus strabismic amblyopia thoracic aortic aneurysm tuberous sclerosis
81031	solute carrier family 2 member 10	SLC2A10 GLUT-10 GLUT10 facilitative glucose transporter GLUT10	Hailey-Hailey disease Legg-Calve-Perthes disease Loeys-Dietz syndrome Moyamoya disease Rothmund-Thomson syndrome X-linked dilated cardiomyopathy acute myocardial infarction adenocarcinoma adenoma adult respiratory distress syndrome allergic asthma aortic aneurysm aortic valve disease 2 aortic valve insufficiency aortic valve stenosis arterial tortuosity syndrome asthma 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 blepharophimosis bone disease breast cancer breast carcinoma bronchiolo-alveolar adenocarcinoma bronchus cancer bronchus carcinoma cancer cardiac arrest cardiomyopathy cartilage disease cataract 32 multiple types cerebral infarction cerebrovascular disease childhood type dermatomyositis chondrosarcoma collagen disease congenital central hypoventilation syndrome congenital diaphragmatic hernia congestive heart failure connective tissue disease corneal disease coronary thrombosis craniosynostosis cribriform carcinoma cutis laxa dermatomyositis diabetes mellitus diabetic ketoacidosis dilated cardiomyopathy 1AA dilated cardiomyopathy 1B dilated cardiomyopathy 1BB dilated cardiomyopathy 1C dilated cardiomyopathy 1CC dilated cardiomyopathy 1D dilated cardiomyopathy 1DD dilated cardiomyopathy 1E dilated cardiomyopathy 1EE dilated cardiomyopathy 1FF dilated cardiomyopathy 1G dilated cardiomyopathy 1GG dilated cardiomyopathy 1H dilated cardiomyopathy 1HH dilated cardiomyopathy 1I dilated cardiomyopathy 1II dilated cardiomyopathy 1JJ dilated cardiomyopathy 1K dilated cardiomyopathy 1KK dilated cardiomyopathy 1L dilated cardiomyopathy 1M dilated cardiomyopathy 1NN dilated cardiomyopathy 1O dilated cardiomyopathy 1P dilated cardiomyopathy 1Q dilated cardiomyopathy 1R dilated cardiomyopathy 1S dilated cardiomyopathy 1T dilated cardiomyopathy 1U dilated cardiomyopathy 1V dilated cardiomyopathy 1W dilated cardiomyopathy 1X dilated cardiomyopathy 1Y dilated cardiomyopathy 1Z dilated cardiomyopathy 2A dilated cardiomyopathy 2B dilated cardiomyopathy endomyocardial fibrosis esophagitis essential hypertension familial hypertrophic cardiomyopathy gastroesophageal reflux disease granular cell carcinoma hiatus hernia hypertension hypertrophic cardiomyopathy hypertropia idiopathic interstitial pneumonia idiopathic pulmonary fibrosis inguinal hernia intellectual disability intermittent claudication interstitial lung disease intrinsic asthma keratoconus learning disability leukocyte adhesion deficiency 1 leukocyte adhesion deficiency lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma mal de Meleda mechanical strabismus megalocornea myocardial infarction myocarditis myopia newborn respiratory distress syndrome obstructive lung disease omphalocele ophthalmoplegia peptic esophagitis peripheral artery disease peripheral vascular disease pneumonia pulmonary emphysema pyloric stenosis respiratory failure restrictive dermopathy scoliosis silent myocardial infarction strabismus thoracic aortic aneurysm tubular adenocarcinoma type 2 diabetes mellitus umbilical hernia vascular disease
11253	mannosidase alpha class 1B member 1	MAN1B1 ER alpha 1,2-mannosidase ERMan1 ERManI MANA-ER MRT15 Man9GlcNAc2-specific processing alpha-mannosidase alpha 1,2-mannosidase endoplasmic Reticulum Class I alpha-mannosidase endoplasmic reticulum alpha-mannosidase 1 endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1	Hailey-Hailey disease Rafiq syndrome Rothmund-Thomson syndrome agnosia alpha 1-antitrypsin deficiency 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 bladder carcinoma bulimia nervosa cancer cerebral degeneration choreatic disease congenital disorder of glycosylation Ii congenital disorder of glycosylation type I congenital disorder of glycosylation cutis laxa depressive disorder developmental coordination disorder dysthymic disorder dystonia epilepsy focal epilepsy gallbladder disease hepatocellular carcinoma hyperopia intellectual disability learning disability lingual-facial-buccal dyskinesia liver cancer liver disease major depressive disorder mal de Meleda melancholic depression microcephaly neurotic disorder non-syndromic intellectual disability obsolete infantile epileptic encephalopathy obsolete melancholia oophoritis parametritis partial motor epilepsy pelvic inflammatory disease periventricular nodular heterotopia pyosalpinx restrictive dermopathy salpingitis stereotypic movement disorder syndactyly syndromic X-linked intellectual disability 94 syndromic X-linked intellectual disability type 10 urinary bladder cancer visual epilepsy
537	ATPase H+ transporting accessory protein 1	ATP6AP1 16A Ac45 CF2 ORF VATPS1 X-associated protein 3 XAP-3 XAP3 vacuolar ATPase subunit S1	Hailey-Hailey disease Rothmund-Thomson syndrome 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 cancer congenital disorder of glycosylation cutis laxa exocrine pancreatic insufficiency follicular lymphoma gallbladder disease hyperopia immunodeficiency 47 leukopenia liver disease mal de Meleda restrictive dermopathy steatotic liver disease tuberculosis
340146	solute carrier family 35 member D3	SLC35D3	Hantavirus hemorrhagic fever with renal syndrome Hermansky-Pudlak syndrome abdominal obesity-metabolic syndrome 1 obesity

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