GlyCosmos Portal

Homo sapiens (human)

Summary

Taxonomy ID: 9606
PubChem Taxonomy: 9606

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

Displaying entries **826 - 850** of **1582** in total

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Gene ID	Gene Name	Gene Symbol	Disease Ontology ▲
3373	hyaluronidase 1	HYAL1 HYAL-1 LUCA1	Laron syndrome achondroplasia arthritis arthropathy bladder carcinoma breast cancer breast carcinoma cancer carcinoma central nervous system cancer chronic obstructive pulmonary disease colorectal cancer colorectal carcinoma embryoma endometrial cancer endometrial carcinoma gliosarcoma head and neck cancer head and neck squamous cell carcinoma high grade glioma juvenile rheumatoid arthritis large intestine cancer laryngeal benign neoplasm laryngeal carcinoma larynx cancer lung benign neoplasm lung cancer lung non-small cell carcinoma lung small cell carcinoma lysosomal storage disease mixed glioma mucopolysaccharidosis II mucopolysaccharidosis III mucopolysaccharidosis IV mucopolysaccharidosis IX mucopolysaccharidosis VI mucopolysaccharidosis osteoarthritis osteochondrodysplasia ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma primary pulmonary hypertension prostate cancer prostate carcinoma pulmonary hypertension sarcomatoid carcinoma skin disease squamous cell carcinoma tongue squamous cell carcinoma urinary bladder cancer uterine corpus cancer
131	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	ADH7 ADH-4	Leber congenital amaurosis Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease adenocarcinoma adenoma alcohol dependence alcohol use disorder aniridia cancer chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma colorectal cancer colorectal carcinoma cone-rod dystrophy cribriform carcinoma embryoma endometrial cancer endometrial carcinoma esophageal cancer esophageal carcinoma esophagus squamous cell carcinoma fundus albipunctatus fundus dystrophy granular cell carcinoma head and neck cancer head and neck squamous cell carcinoma large intestine cancer laryngeal benign neoplasm laryngeal carcinoma larynx cancer lung cancer lung non-small cell carcinoma nicotine dependence nonpapillary renal cell carcinoma papillary renal cell carcinoma pharynx cancer renal carcinoma renal cell carcinoma retinitis pigmentosa sarcomatoid renal cell carcinoma squamous cell carcinoma squamous cell neoplasm stomach cancer stomach carcinoma substance abuse substance-related disorder tongue squamous cell carcinoma tubular adenocarcinoma uterine corpus cancer
79888	lysophosphatidylcholine acyltransferase 1	LPCAT1 AGPAT10 AGPAT9 FLJ12443 LPLAT8 lysophospholipid acyltransferase 8	Leber congenital amaurosis adult respiratory distress syndrome allergic asthma asthma breast cancer breast carcinoma breast fibrocystic disease bronchus cancer bronchus carcinoma cancer carcinoma chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma cone-rod dystrophy cystic fibrosis embryoma fundus albipunctatus hepatitis C hepatocellular carcinoma hypereosinophilic syndrome intrinsic asthma liver cancer lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma microglandular adenosis newborn respiratory distress syndrome nonpapillary renal cell carcinoma papillary renal cell carcinoma prostate cancer prostate carcinoma renal carcinoma renal cell carcinoma retinitis pigmentosa sarcomatoid renal cell carcinoma sickle cell anemia
51102	mitochondrial trans-2-enoyl-CoA reductase	MECR CGI-63 ETR1 FASN2B NRBF1 mitochondrial 2-enoyl thioester reductase nuclear receptor binding factor 1	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
8802	succinate-CoA ligase GDP/ADP-forming subunit alpha	SUCLG1	Leigh disease McCune Albright syndrome brain disease cardiomyopathy central nervous system cancer cerebral degeneration endomyocardial fibrosis epilepsy familial hypertrophic cardiomyopathy giant cell glioblastoma glioblastoma gliosarcoma high grade glioma hypertrophic cardiomyopathy hypoglycemia hypophosphatemia intellectual disability lactic acidosis learning disability methylmalonic acidemia mitochondrial DNA depletion syndrome 5 mitochondrial DNA depletion syndrome 9 mitochondrial DNA depletion syndrome mitochondrial encephalomyopathy mixed glioma skin disease stomach cancer stomach carcinoma syndromic X-linked intellectual disability 94 visual epilepsy
26275	3-hydroxyisobutyryl-CoA hydrolase	HIBCH	Leigh disease Unverricht-Lundborg syndrome West syndrome agnosia arthritis arthropathy blepharospasm brain disease cancer colorectal cancer colorectal carcinoma congenital nystagmus cryptorchidism developmental coordination disorder dissociated nystagmus dystonia early myoclonic encephalopathy epilepsy focal hand dystonia generalized dystonia hydrocephalus hypertropia inherited metabolic disorder lactic acidosis large intestine cancer mechanical strabismus neurodegenerative disease obsolete infantile epileptic encephalopathy ophthalmoplegia osteoarthritis pathologic nystagmus spontaneous ocular nystagmus strabismus tetralogy of Fallot visual epilepsy
5162	pyruvate dehydrogenase E1 subunit beta	PDHB E1beta PDHE1B	Leigh disease acute myocardial infarction breast cancer breast carcinoma chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma coronary thrombosis diabetes mellitus lactic acidosis luminal breast carcinoma A melanoma myocardial infarction nonpapillary renal cell carcinoma papillary adenocarcinoma papillary renal cell carcinoma pyruvate carboxylase deficiency disease pyruvate decarboxylase deficiency renal carcinoma renal cell carcinoma sarcomatoid renal cell carcinoma silent myocardial infarction skin melanoma thyroid gland papillary carcinoma type 2 diabetes mellitus
8908	glycogenin 2	GYG2 GN-2 glycogenin glucosyltransferase	Leigh disease cystinuria galactosemia glucosephosphate dehydrogenase deficiency glycogen storage disease IXa glycogen storage disease IXb glycogen storage disease IXc glycogen storage disease IXd glycogen storage disease Ia glycogen storage disease
8527	diacylglycerol kinase delta	DGKD DGKdelta KIAA0145 diglyceride kinase	Lennox-Gastaut syndrome Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease cancer diabetes mellitus embryoma epilepsy hyperglycemia nephrolithiasis obsessive-compulsive disorder open-angle glaucoma primary open angle glaucoma type 2 diabetes mellitus uric acid nephrolithiasis visual epilepsy
5111	proliferating cell nuclear antigen	PCNA	Lewy body dementia ataxia-telangiectasia-like disorder-2 brain ischemia hepatocellular carcinoma hypothyroidism invasive ductal carcinoma leiomyoma liver cancer mucositis nephroblastoma obstructive jaundice osteoporosis renal cell carcinoma sciatic neuropathy seminoma stomach cancer transient cerebral ischemia
340075	arylsulfatase family member I	ARSI FLJ16069 SPG66	Lynch syndrome abdominal aortic aneurysm anxiety disorder arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis autistic disorder breast cancer breast carcinoma cancer cardiovascular system disease clubfoot cone-rod dystrophy coronary artery disease depressive disorder dysthymic disorder eye disease fundus albipunctatus generalized anxiety disorder heart disease intellectual disability learning disability lysosomal storage disease major depressive disorder melancholic depression neurotic disorder obsolete melancholia panic disorder phobic disorder post-traumatic stress disorder retinitis pigmentosa stomach cancer stomach carcinoma
5552	serglycin	SRGN PPG serglycin proteoglycan	MHC class II deficiency Sertoli cell-only syndrome Y-linked spermatogenic failure 1 acute myeloid leukemia acute promyelocytic leukemia adenosine deaminase deficiency adult respiratory distress syndrome arteriosclerotic cardiovascular disease arthritis arthropathy atherosclerosis breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer candidiasis carcinoma central nervous system cancer childhood type dermatomyositis cleft palate colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma congestive heart failure coronary aneurysm coronary artery disease coronary stenosis degenerative disc disease dental caries dentin caries dermatomyositis diabetes mellitus diabetic cataract diabetic retinopathy diarrhea dilated cardiomyopathy 1A dilated cardiomyopathy disease of mental health embryoma enterocele esophagus squamous cell carcinoma essential hypertension giant cell glioblastoma glioblastoma gliosarcoma glucose intolerance gynecomastia hepatitis B hepatocellular carcinoma high grade glioma hypertension infant gynecomastia isolated cleft palate large intestine cancer liver cancer lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lupus erythematosus male infertility malignant pleural mesothelioma mixed glioma multiple myeloma nasopharynx carcinoma newborn respiratory distress syndrome nutmeg liver oligospermia oral candidiasis osteoarthritis prediabetes syndrome psychotic disorder sarcomatoid carcinoma severe combined immunodeficiency type 2 diabetes mellitus
3948	lactate dehydrogenase C	LDHC CT32 cancer/testis antigen 32	MHC class II deficiency Sertoli cell-only syndrome Y-linked spermatogenic failure 1 adenosine deaminase deficiency breast cancer breast carcinoma cancer cerebral infarction cerebrovascular disease chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma diabetic ketoacidosis disease of metabolism embryoma essential thrombocythemia lung adenocarcinoma lung cancer lung disease lung non-small cell carcinoma male infertility neuroblastoma nonpapillary renal cell carcinoma obsolete type 1 diabetes mellitus 9 oligospermia papillary renal cell carcinoma placental insufficiency prostate cancer prostate carcinoma renal carcinoma renal cell carcinoma sarcomatoid renal cell carcinoma seminoma severe combined immunodeficiency testicular cancer testicular germ cell cancer testis seminoma tuberculosis type 1 diabetes mellitus 10 type 1 diabetes mellitus 11 type 1 diabetes mellitus 12 type 1 diabetes mellitus 13 type 1 diabetes mellitus 15 type 1 diabetes mellitus 17 type 1 diabetes mellitus 18 type 1 diabetes mellitus 19 type 1 diabetes mellitus 20 type 1 diabetes mellitus 21 type 1 diabetes mellitus 22 type 1 diabetes mellitus 23 type 1 diabetes mellitus 24 type 1 diabetes mellitus 2 type 1 diabetes mellitus 3 type 1 diabetes mellitus 4 type 1 diabetes mellitus 5 type 1 diabetes mellitus 6 type 1 diabetes mellitus 7 type 1 diabetes mellitus 8 type 1 diabetes mellitus
2137	exostosin like glycosyltransferase 3	EXTL3 REG receptor REGR botv glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase	MHC class II deficiency acute myeloid leukemia adenosine deaminase deficiency agnosia arteriosclerotic cardiovascular disease atherosclerosis autosomal dominant osteopetrosis 2 autosomal recessive osteopetrosis 7 bacterial sepsis brain cancer breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer cherubism chondrodysplasia punctata ciliary body disease cocaine abuse cocaine dependence colorectal cancer colorectal carcinoma coronary artery disease developmental coordination disorder endometriosis of uterus endometriosis epithelioid sarcoma exostosis giant cell glioblastoma glioblastoma head and neck cancer head and neck squamous cell carcinoma hereditary multiple exostoses hypereosinophilic syndrome intellectual disability iris disease large intestine cancer learning disability liver cirrhosis lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lymphopenia morphine dependence mucopolysaccharidosis II mucopolysaccharidosis III mucopolysaccharidosis IV mucopolysaccharidosis VI mucopolysaccharidosis type IIIA mucopolysaccharidosis type IIIC mucopolysaccharidosis multiple epiphyseal dysplasia nutmeg liver osteochondrodysplasia osteopetrosis osteosclerosis panuveitis periarthritis pulmonary embolism sarcoma scoliosis secondary syphilis severe combined immunodeficiency spindle cell sarcoma tendinitis tuberculosis uveitis
9945	glutamine-fructose-6-phosphate transaminase 2	GFPT2 GFAT2 glutamine: fructose-6-phosphate aminotransferase 2	Machado-Joseph disease acute myocardial infarction cancer chronic kidney disease coronary thrombosis diabetes mellitus embryoma hyperglycemia lung cancer lung non-small cell carcinoma myocardial infarction ovarian cancer ovarian carcinoma silent myocardial infarction type 2 diabetes mellitus
5311	polycystin 2, transient receptor potential cation channel	PKD2 PC2 PKD4 Pc-2 TRPP2 transient receptor potential cation channel, subfamily P, member 2	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 Wiskott-Aldrich syndrome acute kidney failure adrenal gland cancer atrial fibrillation atrioventricular block autism spectrum disorder autistic disorder autosomal dominant polycystic kidney disease autosomal recessive polycystic kidney disease bile duct adenocarcinoma bile duct carcinoma bladder carcinoma bone disease breast cancer breast carcinoma cancer cartilage disease central nervous system cancer cerebellar ataxia, mental retardation and dysequlibrium syndrome cholangiocarcinoma chronic kidney disease ciliopathy collagen disease congenital heart disease congestive heart failure connective tissue disease cystic kidney disease disorder of sexual development distal arthrogryposis duodenum cancer embryoma episodic kinesigenic dyskinesia 1 essential hypertension familial adenomatous polyposis 1 familial adenomatous polyposis focal segmental glomerulosclerosis giant cell glioblastoma glioblastoma gliosarcoma glomerulonephritis gout heart cancer hermaphroditism high grade glioma hypertension idiopathic interstitial pneumonia idiopathic pulmonary fibrosis intracranial aneurysm intrahepatic cholangiocarcinoma islet cell tumor kidney disease kidney failure laryngeal squamous cell carcinoma lung adenocarcinoma lung cancer mixed glioma nephritis nephrosis neurodegenerative disease non-congenital cyst of kidney pheochromocytoma placental insufficiency polycystic kidney disease 1 polycystic kidney disease 2 polycystic kidney disease 4 polycystic kidney disease polycystic liver disease prostate cancer prostate carcinoma pseudohermaphroditism pyoureter retinal degeneration situs inversus small intestine cancer thoracic aortic aneurysm tuberous sclerosis uremia urinary bladder cancer
220	aldehyde dehydrogenase 1 family member A3	ALDH1A3 RALDH3 retinaldehyde dehydrogenase 3	Marfan syndrome Meckel syndrome 1 Meckel syndrome acoustic neuroma adenocarcinoma adenoma angiomatous meningioma autism spectrum disorder autistic disorder benign meningioma bilateral optic nerve hypoplasia bile duct adenocarcinoma bile duct carcinoma brain cancer breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer central nervous system cancer cerebral convexity meningioma choanal atresia cholangiocarcinoma clear cell meningioma coloboma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma cribriform carcinoma distal arthrogryposis embryoma familial adenomatous polyposis 1 familial adenomatous polyposis fibrous meningioma gallbladder cancer gallbladder carcinoma giant cell glioblastoma glioblastoma gliosarcoma granular cell carcinoma high grade glioma intrahepatic cholangiocarcinoma intraorbital meningioma intraventricular meningioma islet cell tumor isolated microphthalmia 1 isolated microphthalmia 2 isolated microphthalmia 3 isolated microphthalmia 4 isolated microphthalmia 6 isolated microphthalmia 7 isolated microphthalmia 8 large intestine cancer lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lymphoplasmacyte-rich meningioma malignant pleural mesothelioma melanoma meningioma meningothelial meningioma microcystic meningioma microphthalmia mixed glioma neuroblastoma olfactory groove meningioma pancreatic cancer pancreatic carcinoma papillary adenocarcinoma papillary renal cell carcinoma parasagittal meningioma pituitary adenoma polycystic ovary syndrome prostate cancer prostate carcinoma psammomatous meningioma rheumatoid arthritis secretory meningioma seminoma situs inversus skin melanoma spinal meningioma steatotic liver disease stomach cancer stomach carcinoma testicular cancer testicular germ cell cancer thyroid gland papillary carcinoma transitional meningioma transthyretin amyloidosis tuberous sclerosis tubular adenocarcinoma
5589	PRKCSH beta subunit of glucosidase II	PRKCSH	Marfan syndrome Meckel syndrome autosomal dominant polycystic kidney disease beta thalassemia breast cancer breast carcinoma cancer cerebellar ataxia, mental retardation and dysequlibrium syndrome cystic kidney disease diabetic ketoacidosis episodic ataxia type 2 esophagitis familial hemiplegic migraine 1 familial hemiplegic migraine familial hypercholesterolemia gallbladder disease gastroesophageal reflux disease hepatitis B hepatocellular carcinoma liver cancer liver disease non-congenital cyst of kidney obsolete type 1 diabetes mellitus 9 peptic esophagitis polycystic kidney disease 1 polycystic liver disease situs inversus 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
125	alcohol dehydrogenase 1B (class I), beta polypeptide	ADH1B	Marfan syndrome Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Wernicke-Korsakoff syndrome acute myocardial infarction acute pancreatitis alcohol dependence alcohol use disorder alcoholic hepatitis alcoholic liver cirrhosis alcoholic neuropathy alcoholic pancreatitis allergic asthma allergic rhinitis amnestic disorder anaplastic astrocytoma anemia antisocial personality disorder anxiety disorder arteriosclerotic cardiovascular disease asthma atherosclerosis atrial fibrillation autosomal dominant hypocalcemia 1 autosomal dominant hypocalcemia bladder carcinoma brain stem infarction breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma cardiovascular system disease cerebral artery occlusion cerebral degeneration cerebral infarction cerebrovascular disease childhood cerebral astrocytoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma corneal disease coronary artery disease coronary thrombosis degenerative disc disease depressive disorder diabetes mellitus diabetic ketoacidosis disease of metabolism dysthymic disorder embryoma enthesopathy esophageal cancer esophageal carcinoma esophagus squamous cell carcinoma essential hypertension essential tremor exostosis fibrillary astrocytoma flat ductal epithelial atypia gallbladder disease gemistocytic astrocytoma generalized anxiety disorder head and neck cancer head and neck squamous cell carcinoma heart disease hepatitis B hepatitis C hepatocellular carcinoma heroin dependence high grade glioma hyperphosphatemia hypertension hypopharynx cancer intrinsic asthma juvenile pilocytic astrocytoma keratoconus large intestine cancer laryngeal benign neoplasm laryngeal carcinoma laryngeal squamous cell carcinoma larynx cancer leukopenia liver cancer liver cirrhosis liver disease lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lymphopenia macrocytic anemia major depressive disorder malaria malignant astrocytoma melancholic depression migraine morphine dependence myocardial infarction nasopharynx carcinoma neurotic disorder obesity obsolete melancholia opiate dependence oral cavity cancer oropharynx cancer ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma pancreatitis parapsoriasis periarthritis personality disorder pharynx cancer pilocytic astrocytoma placental insufficiency protoplasmic astrocytoma psoriasis psychotic disorder pustulosis of palm and sole restless legs syndrome schizoaffective disorder schizophreniform disorder silent myocardial infarction situs inversus squamous cell carcinoma steatotic liver disease stomach cancer stomach carcinoma subependymal giant cell astrocytoma tendinitis thrombocytopenia tongue squamous cell carcinoma tuberous sclerosis type 2 diabetes mellitus urinary bladder cancer vascular disease vasomotor rhinitis
126	alcohol dehydrogenase 1C (class I), gamma polypeptide	ADH1C	Marfan syndrome Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease acute myocardial infarction acute pancreatitis adenocarcinoma adenoma adrenoleukodystrophy adult hepatocellular carcinoma alcohol dependence alcohol use disorder alcoholic hepatitis alcoholic liver cirrhosis alcoholic pancreatitis anaplastic astrocytoma arteriosclerotic cardiovascular disease atherosclerosis autosomal dominant hypocalcemia 1 autosomal dominant hypocalcemia bladder carcinoma breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer cannabis abuse cannabis dependence carcinoma cardiovascular system disease cerebellar ataxia, mental retardation and dysequlibrium syndrome cerebral infarction cerebrovascular disease cervical adenocarcinoma cervical cancer cervix carcinoma childhood cerebral astrocytoma childhood hepatocellular carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma common wart coronary artery disease coronary thrombosis cribriform carcinoma dementia depressive disorder diabetes mellitus diabetic ketoacidosis dysthymic disorder dystonia embryoma esophageal cancer esophageal carcinoma esophagus squamous cell carcinoma familial adenomatous polyposis 1 familial adenomatous polyposis fibrillary astrocytoma follicular adenoma gallbladder disease gemistocytic astrocytoma glucose intolerance granular cell carcinoma head and neck cancer head and neck squamous cell carcinoma heart disease hemorrhoid hepatocellular carcinoma high grade glioma islet cell tumor juvenile pilocytic astrocytoma large intestine cancer laryngeal benign neoplasm laryngeal carcinoma larynx cancer late onset Parkinson's disease liver cancer liver cirrhosis liver disease lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma major depressive disorder malignant astrocytoma melancholic depression microcystic adenoma myocardial infarction neurotic disorder nicotine dependence nutmeg liver obsolete constipation obsolete melancholia oropharynx cancer pancreatic cancer pancreatic carcinoma pancreatitis papillary adenoma pharynx cancer pilocytic astrocytoma prediabetes syndrome prostate cancer prostate carcinoma protoplasmic astrocytoma secondary Parkinson disease silent myocardial infarction situs inversus squamous cell carcinoma stomach cancer stomach carcinoma subependymal giant cell astrocytoma substance abuse substance-related disorder tongue squamous cell carcinoma tuberous sclerosis tubular adenocarcinoma type 2 diabetes mellitus urinary bladder cancer
6309	sterol-C5-desaturase	SC5D delta(7)-sterol 5(6)-desaturase lathosterol oxidase	Marfan syndrome Peters anomaly Smith-Lemli-Opitz syndrome Unverricht-Lundborg syndrome basal cell carcinoma blepharospasm cataract cleft palate clubfoot complex partial epilepsy congenital heart disease congenital ptosis cornea plana early myoclonic encephalopathy epilepsy focal hand dystonia gallbladder disease gingival hypertrophy gingival overgrowth intellectual disability intrahepatic cholestasis isolated cleft palate learning disability liver disease meningocele microcephaly placental insufficiency polydactyly ptosis sensorineural hearing loss situs inversus temporal lobe epilepsy thrombocytopenia tuberous sclerosis visual epilepsy
347527	arylsulfatase family member H	ARSH	Marfan syndrome Richter's syndrome X-linked chondrodysplasia punctata 1 acquired immunodeficiency syndrome acrodermatitis alcoholic liver cirrhosis autosomal dominant chondrodysplasia punctata cancer childhood leukemia chondrodysplasia punctata chronic lymphocytic leukemia dermatitis dyschromatosis symmetrica hereditaria essential thrombocythemia gallbladder disease hepatitis human immunodeficiency virus infectious disease leukemia liver cirrhosis liver disease microphthalmia mucopolysaccharidosis II mucopolysaccharidosis III mucopolysaccharidosis IV mucopolysaccharidosis VI mucopolysaccharidosis mucosulfatidosis myelodysplastic syndrome neuroblastoma obsolete Matthew-Wood syndrome oculocerebrorenal syndrome rhizomelic chondrodysplasia punctata type 1 rhizomelic chondrodysplasia punctata type 2 rhizomelic chondrodysplasia punctata type 3 situs inversus tuberous sclerosis ventricular septal defect
3631	inositol polyphosphate-4-phosphatase type I A	INPP4A Type I inositol 3,4-bisphosphate 4-phosphatase	Marfan syndrome Unverricht-Lundborg syndrome allergic asthma asthma autosomal dominant dyskeratosis congenita 1 bladder carcinoma cancer early myoclonic encephalopathy embryoma intrinsic asthma lung cancer lung non-small cell carcinoma pancreatic cancer pancreatic carcinoma situs inversus tuberous sclerosis urinary bladder cancer
22845	dolichol kinase	DOLK DK1 KIAA1094 dolichol kinase 1	Marfan syndrome X-linked dilated cardiomyopathy autosomal recessive polycystic kidney disease congenital disorder of glycosylation Im congenital disorder of glycosylation Iq congenital disorder of glycosylation type I congenital generalized lipodystrophy type 1 congenital generalized lipodystrophy type 2 congenital generalized lipodystrophy type 3 congenital generalized lipodystrophy type 4 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 ichthyosis isolated elevated serum creatine phosphokinase levels lipoatrophic diabetes mellitus lipodystrophy nonepidermolytic palmoplantar keratoderma palmoplantar keratosis polycystic kidney disease 4 sensorineural hearing loss situs inversus tuberous sclerosis
139189	diacylglycerol kinase kappa	DGKK	Marfan syndrome agnosia arteriosclerotic cardiovascular disease atherosclerosis conduct disorder coronary artery disease developmental coordination disorder disease of mental health fragile X syndrome hepatocellular carcinoma hypospadias liver cancer prostate cancer prostate carcinoma situs inversus syndromic X-linked intellectual disability 94 tuberous sclerosis

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