GlyCosmos Portal

Homo sapiens (human)

Summary

Taxonomy ID: 9606
PubChem Taxonomy: 9606

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

Displaying entries **76 - 100** of **1582** in total

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Gene ID	Gene Name	Gene Symbol ▲	Disease Ontology
178	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	AGL GDE glycogen debranching enzyme glycogen storage disease type III	Duchenne muscular dystrophy Laron syndrome achondroplasia acute promyelocytic leukemia atrichia with papular lesions autosomal dominant Emery-Dreifuss muscular dystrophy 2 autosomal dominant limb-girdle muscular dystrophy type 1 autosomal dominant limb-girdle muscular dystrophy type 1H autosomal dominant limb-girdle muscular dystrophy type 2 autosomal dominant limb-girdle muscular dystrophy type 3 autosomal dominant limb-girdle muscular dystrophy autosomal recessive limb-girdle muscular dystrophy type 2A autosomal recessive limb-girdle muscular dystrophy type 2B autosomal recessive limb-girdle muscular dystrophy type 2C autosomal recessive limb-girdle muscular dystrophy type 2D autosomal recessive limb-girdle muscular dystrophy type 2E autosomal recessive limb-girdle muscular dystrophy type 2F autosomal recessive limb-girdle muscular dystrophy type 2G autosomal recessive limb-girdle muscular dystrophy type 2H autosomal recessive limb-girdle muscular dystrophy type 2I autosomal recessive limb-girdle muscular dystrophy type 2J autosomal recessive limb-girdle muscular dystrophy type 2K autosomal recessive limb-girdle muscular dystrophy type 2L autosomal recessive limb-girdle muscular dystrophy type 2M autosomal recessive limb-girdle muscular dystrophy type 2N autosomal recessive limb-girdle muscular dystrophy type 2O autosomal recessive limb-girdle muscular dystrophy type 2P autosomal recessive limb-girdle muscular dystrophy type 2Q autosomal recessive limb-girdle muscular dystrophy type 2S autosomal recessive limb-girdle muscular dystrophy type 2T autosomal recessive limb-girdle muscular dystrophy type 2U autosomal recessive limb-girdle muscular dystrophy type 2Y autosomal recessive limb-girdle muscular dystrophy bladder carcinoma cancer cardiomyopathy colon cancer colon carcinoma colonic benign neoplasm colorectal cancer congenital generalized lipodystrophy type 1 congenital generalized lipodystrophy type 2 congenital generalized lipodystrophy type 3 congenital generalized lipodystrophy type 4 congenital muscular dystrophy cystinuria disease of metabolism distal myopathy endomyocardial fibrosis facioscapulohumeral muscular dystrophy familial hyperlipidemia familial partial lipodystrophy familial periodic paralysis galactosemia giardiasis glucosephosphate dehydrogenase deficiency glycogen storage disease II glycogen storage disease III glycogen storage disease IXa glycogen storage disease IXb glycogen storage disease IXc glycogen storage disease IXd glycogen storage disease Ia glycogen storage disease hepatitis C hypertrophic cardiomyopathy hypoglycemia isolated elevated serum creatine phosphokinase levels kidney failure large intestine cancer limb-girdle muscular dystrophy lipoatrophic diabetes mellitus lipodystrophy liver cirrhosis lung cancer lung non-small cell carcinoma muscular dystrophy myofibrillar myopathy 1 myofibrillar myopathy 3 myopathy nodular nonsuppurative panniculitis obsolete autosomal dominant limb-girdle muscular dystrophy type 1A obsolete autosomal dominant limb-girdle muscular dystrophy type 1B obsolete autosomal dominant limb-girdle muscular dystrophy type 1C obsolete autosomal recessive limb-girdle muscular dystrophy type 2R oculopharyngeal muscular dystrophy panniculitis primary immunodeficiency disease rippling muscle disease 2 uremia urinary bladder cancer
10554	1-acylglycerol-3-phosphate O-acyltransferase 1	AGPAT1 1-acyl-sn-glycerol-3-phosphate acyltransferase alpha LPAAT-alpha LPLAT1 lysophosphatidic acid acyltransferase, alpha lysophospholipid acyltransferase l	Japanese encephalitis cancer congenital generalized lipodystrophy type 1 congenital generalized lipodystrophy type 2 congenital generalized lipodystrophy type 3 congenital generalized lipodystrophy type 4 dengue disease diabetic ketoacidosis embryoma lipoatrophic diabetes mellitus lipodystrophy obsolete type 1 diabetes mellitus 9 pancreatic cancer pancreatic carcinoma rheumatoid arthritis steatotic liver disease 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 viral infectious disease yellow fever
10555	1-acylglycerol-3-phosphate O-acyltransferase 2	AGPAT2 1-acyl-sn-glycerol-3-phosphate acyltransferase beta LPAAT-beta LPLAT2 lysophosphatidic acid acyltransferase-beta lysophospholipid acyltransferase 2	Fanconi syndrome Zollinger-Ellison syndrome acanthosis nigricans acute myocardial infarction acute pancreatitis acute promyelocytic leukemia aromatase excess syndrome arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis atrial fibrillation atrichia with papular lesions bone osteosarcoma bulimia nervosa cancer cardiomyopathy childhood osteosarcoma chronic myeloid leukemia congenital generalized lipodystrophy type 1 congenital generalized lipodystrophy type 2 congenital generalized lipodystrophy type 3 congenital generalized lipodystrophy type 4 congenital generalized lipodystrophy congestive heart failure coronary artery disease coronary thrombosis cystinosis diabetes mellitus diabetic ketoacidosis embryoma endometrial cancer endometrial carcinoma endomyocardial fibrosis familial hypertrophic cardiomyopathy familial partial lipodystrophy familial periodic paralysis glomerulonephritis hydrocephalus hyperinsulinism hypertrichosis hypertrophic cardiomyopathy intellectual disability isolated growth hormone deficiency kidney disease kidney failure learning disability lipoatrophic diabetes mellitus lipodystrophy myocardial infarction myopathy neonatal diabetes nephritis nephrolithiasis nephrosis neuropathy obesity omphalocele osteoporosis osteosarcoma ovarian cancer ovarian carcinoma pancreatic adenocarcinoma pancreatitis peripheral nervous system disease polycystic ovary syndrome primary immunodeficiency disease primary pulmonary hypertension pyloric stenosis pyoureter scoliosis silent myocardial infarction steatotic liver disease transient neonatal diabetes mellitus trichohepatoenteric syndrome 1 trichohepatoenteric syndrome type 2 diabetes mellitus umbilical hernia uric acid nephrolithiasis uterine corpus cancer
56894	1-acylglycerol-3-phosphate O-acyltransferase 3	AGPAT3 1-acyl-sn-glycerol-3-phosphate acyltransferase gamma LPAAT-gamma LPAAT3 LPLAT3 lysophosphatidic acid acyltransferase gamma lysophospholipid acyltransferase 3	chronic obstructive pulmonary disease neurodegenerative disease
56895	1-acylglycerol-3-phosphate O-acyltransferase 4	AGPAT4 1-acyl-sn-glycerol-3-phosphate acyltransferase delta LPAAT-delta LPAAT4 LPLAT4 dJ473J16.2 lysophosphatidic acid acyltransferase, delta lysophospholipid acyltransferase 4	bladder carcinoma urinary bladder cancer
55326	1-acylglycerol-3-phosphate O-acyltransferase 5	AGPAT5 1-acyl-sn-glycerol-3-phosphate acyltransferase epsilon FLJ11210 LPAAT-e LPAAT-epsilon LPLAT5 lysophosphatidic acid acyltransferase, epsilon lysophospholipid acyltransferase 5
8540	alkylglycerone phosphate synthase	AGPS ADAP-S ADAS ADHAPS ADPS ALDHPSY	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 X-linked chondrodysplasia punctata 1 Zellweger syndrome agammaglobulinemia amyloidosis autosomal dominant chondrodysplasia punctata cancer central nervous system cancer cerebral degeneration chondrodysplasia punctata congenital generalized lipodystrophy type 1 congenital generalized lipodystrophy dementia embryoma epilepsy essential hypertension gliosarcoma hepatocellular carcinoma high grade glioma hypertension liver cancer lymphopenia mixed glioma peroxisome biogenesis disorder 1A photoallergic dermatitis rhizomelic chondrodysplasia punctata type 1 rhizomelic chondrodysplasia punctata type 2 rhizomelic chondrodysplasia punctata type 3 rhizomelic chondrodysplasia punctata thyroid adenoma thyroid cancer thyroid gland carcinoma visual epilepsy
375790	agrin	AGRN	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 Bell's palsy Pick's disease Reye syndrome acute myeloid leukemia agnosia cancer central sleep apnea cerebral degeneration congenital myasthenic syndrome 10 congenital myasthenic syndrome 8 congenital myasthenic syndrome congenital nystagmus congenital ptosis critical illness polyneuropathy developmental coordination disorder dissociated nystagmus embryoma epilepsy esophagitis esotropia facial nerve disease facial paralysis fetal akinesia deformation sequence syndrome 1 fetal akinesia deformation sequence syndrome gastroesophageal reflux disease intellectual disability learning disability lung adenocarcinoma lung cancer monocular esotropia obstructive sleep apnea ophthalmoplegia papillary adenocarcinoma papillary renal cell carcinoma pathologic nystagmus peptic esophagitis polyhydramnios polyneuropathy progressive bulbar palsy ptosis scoliosis sensorineural hearing loss spontaneous ocular nystagmus thyroid gland papillary carcinoma visual epilepsy
189	alanine--glyoxylate aminotransferase	AGXT AGT AGT1 AGXT1 L-alanine: glyoxylate aminotransferase 1 PH1 SPT Ser-PyrAT TLH6 glycolicaciduria oxalosis I primary hyperoxaluria type 1	Foster-Kennedy syndrome Laurin-Sandrow syndrome Raynaud disease Senior-Loken syndrome acrodermatitis allergic asthma allergic rhinitis alopecia androgenic alopecia anemia angioedema arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease asthma atherosclerosis atrioventricular block autosomal recessive osteopetrosis 7 beriberi calcinosis calcium metabolism disease cancer carcinoma cerebral infarction cerebrovascular disease chronic kidney disease coronary artery disease cystinuria dermatitis disease of metabolism distal arthrogryposis eosinophilic esophagitis essential hypertension extraosseous Ewing sarcoma extraosseous Ewings sarcoma-primitive neuroepithelial tumor galactosemia giant cell glioblastoma glioblastoma glucosephosphate dehydrogenase deficiency glycogen storage disease Ia glycogen storage disease hepatocellular carcinoma hereditary sensory and autonomic neuropathy type 1 hereditary sensory and autonomic neuropathy type 1A hereditary sensory neuropathy high grade glioma hypercalcemia hypertension inherited metabolic disorder intermittent claudication intrinsic asthma kidney failure lactic acidosis liver cancer macrocytic anemia middle cerebral artery infarction nephrocalcinosis nephrolithiasis nephronophthisis neuropathy optic atrophy optic nerve disease osteopetrosis osteosclerosis parasitic helminthiasis infectious disease peripheral nervous system disease peripheral vascular disease phosphorus metabolism disease primary hyperoxaluria type 1 primary hyperoxaluria retinal disease retinitis riboflavin deficiency sarcomatoid carcinoma sensory peripheral neuropathy skin disease subacute bacterial endocarditis thiamine deficiency disease uremia uric acid nephrolithiasis urinary tract obstruction urticaria vasomotor rhinitis visual pathway disease
10327	aldo-keto reductase family 1 member A1	AKR1A1 ALR DD3 aldehyde reductase dihydrodiol dehydrogenase 3	Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease B-cell lymphoma Barrett's esophagus Langerhans-cell histiocytosis Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Pick's disease Prinzmetal angina Reye syndrome Stargardt disease Wernicke-Korsakoff syndrome acute myocardial infarction acute pancreatitis adenocarcinoma adenoma adrenoleukodystrophy adult fibrosarcoma age related macular degeneration alcohol dependence alcohol use disorder alcoholic hepatitis alcoholic liver cirrhosis alcoholic pancreatitis amnestic disorder anaplastic astrocytoma anorectal stricture arteriosclerotic cardiovascular disease atherosclerosis atrial fibrillation atrophy of testis autistic disorder autoimmune disease autoimmune lymphoproliferative syndrome autoimmune polyendocrine syndrome background diabetic retinopathy benign ependymoma bile duct adenocarcinoma bile duct carcinoma bladder carcinoma bone osteosarcoma brain cancer brain stem infarction breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer candidiasis cardiovascular system disease cellular ependymoma cerebral artery occlusion cerebral degeneration cerebral infarction cerebrovascular disease childhood cerebral astrocytoma childhood ependymoma childhood osteosarcoma cholangiocarcinoma chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma colorectal cancer colorectal carcinoma coronary artery disease coronary thrombosis cribriform carcinoma degeneration of macula and posterior pole depressive disorder diabetes mellitus diabetic cataract diabetic ketoacidosis diabetic retinopathy dysthymic disorder embryoma esophageal cancer esophageal carcinoma esophagus adenocarcinoma esophagus squamous cell carcinoma essential hypertension essential tremor exudative vitreoretinopathy familial periodic paralysis fibrillary astrocytoma fibrosarcoma gallbladder disease gastric cardia adenocarcinoma gemistocytic astrocytoma glucocorticoid-remediable aldosteronism glycogen storage disease II granular cell carcinoma granuloma annulare head and neck cancer head and neck squamous cell carcinoma heart disease hepatitis B hepatitis C hepatocellular carcinoma high grade glioma hypertension hypopharynx cancer immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome immune system disease intrahepatic cholangiocarcinoma juvenile pilocytic astrocytoma kwashiorkor large intestine cancer laryngeal benign neoplasm laryngeal carcinoma laryngeal disease larynx cancer liver cancer liver cirrhosis liver disease lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lymphoma macular degeneration major depressive disorder malaria malignant astrocytoma marasmus melancholic depression migraine myocardial infarction myopathy myxopapillary ependymoma neurodegenerative disease neuropathy neurotic disorder nicotine dependence non-Hodgkin lymphoma nonpapillary renal cell carcinoma nutmeg liver nutrition disease obesity obsolete constipation obsolete eye and adnexa disease obsolete melancholia obsolete type 1 diabetes mellitus 9 obsolete ymphosarcoma oral candidiasis osteoporosis osteosarcoma pancreatic adenocarcinoma pancreatic cancer pancreatic carcinoma pancreatitis papillary ependymoma papillary renal cell carcinoma perinatal necrotizing enterocolitis peripheral nervous system disease pharynx cancer pilocytic astrocytoma placental insufficiency polyneuropathy proliferative diabetic retinopathy prostate cancer prostate carcinoma protein-energy malnutrition protoplasmic astrocytoma renal carcinoma renal cell carcinoma reticulosarcoma sarcomatoid renal cell carcinoma schizophrenia scurvy sensorineural hearing loss silent myocardial infarction squamous cell carcinoma squamous cell neoplasm steatotic liver disease stomach cancer stomach carcinoma subependymal giant cell astrocytoma substance abuse substance-related disorder tanycytic ependymoma tongue squamous cell carcinoma tracheal disease tubular adenocarcinoma type 1 diabetes mellitus 10 type 1 diabetes mellitus 11 type 1 diabetes mellitus 12 type 1 diabetes mellitus 13 type 1 diabetes mellitus 15 type 1 diabetes mellitus 17 type 1 diabetes mellitus 18 type 1 diabetes mellitus 19 type 1 diabetes mellitus 20 type 1 diabetes mellitus 21 type 1 diabetes mellitus 22 type 1 diabetes mellitus 23 type 1 diabetes mellitus 24 type 1 diabetes mellitus 2 type 1 diabetes mellitus 3 type 1 diabetes mellitus 4 type 1 diabetes mellitus 5 type 1 diabetes mellitus 6 type 1 diabetes mellitus 7 type 1 diabetes mellitus 8 type 1 diabetes mellitus type 2 diabetes mellitus urinary bladder cancer viral infectious disease vulvovaginal candidiasis
231	aldo-keto reductase family 1 member B	AKR1B1 AR aldose reductase	46,XY sex reversal Alzheimer's disease Clostridium difficile colitis Cockayne syndrome Leber hereditary optic neuropathy Schwartz-Jampel syndrome 1 Stevens-Johnson syndrome X-linked adrenal hypoplasia congenita abdominal obesity-metabolic syndrome 1 acute lymphoblastic leukemia acute myeloid leukemia adenocarcinoma adenoma adrenal carcinoma adrenal cortex cancer adrenal gland hyperfunction adrenocortical carcinoma adrenoleukodystrophy adult acute lymphocytic leukemia adult fibrosarcoma adult respiratory distress syndrome alcoholic hepatitis alcoholic liver cirrhosis allergic asthma allergic disease allergic rhinitis anaplastic astrocytoma arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease asthma atherosclerosis atypical chronic myeloid leukemia, BCR-ABL1 negative breast adenocarcinoma breast cancer breast carcinoma in situ breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma cardiovascular system disease carotid artery disease cataract central nervous system cancer cerebral infarction cerebrovascular disease childhood acute lymphocytic leukemia childhood cerebral astrocytoma chronic kidney disease chronic monocytic leukemia ciliary body disease colon adenocarcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma congestive heart failure coronary artery disease cystinuria deafness-dystonia-optic neuronopathy syndrome diabetes mellitus diabetic angiopathy diabetic autonomic neuropathy diabetic cataract diabetic ketoacidosis diabetic neuropathy diabetic polyneuropathy diabetic retinopathy embryoma endometrial cancer endometrial carcinoma endometriosis of ovary endometriosis of uterus endometriosis essential hypertension familial hyperlipidemia fibrillary astrocytoma fibrosarcoma follicular adenoma frozen shoulder galactokinase deficiency galactosemia gemistocytic astrocytoma giant cell glioblastoma glioblastoma gliosarcoma glomerulonephritis glucosephosphate dehydrogenase deficiency glycogen storage disease Ia glycogen storage disease heart disease hemochromatosis type 1 hemochromatosis hepatitis C hepatobiliary disease hepatoblastoma hepatocellular carcinoma hereditary lymphedema I hereditary lymphedema IA hereditary lymphedema herpes simplex high grade glioma hyperglycemia hypertension hypokalemia intrinsic asthma iris disease irritable bowel syndrome juvenile pilocytic astrocytoma keratosis follicularis kidney disease kidney failure large intestine cancer leiomyoma leukopenia liver cancer liver cirrhosis low tension glaucoma lung cancer lung carcinoma lung small cell carcinoma lymphedema lymphoid leukemia malignant astrocytoma membranous glomerulonephritis microcystic adenoma mixed glioma mongolian spot multiple epiphyseal dysplasia multiple sclerosis myeloid leukemia nephritis nephrosis neuroblastoma neurocirculatory asthenia neuropathy newborn respiratory distress syndrome nutmeg liver nutritional optic neuropathy obesity obsolete Cushing's syndrome obsolete type 1 diabetes mellitus 9 ocular hypertension open-angle glaucoma osteochondrodysplasia osteoporosis pancreatic cancer pancreatic carcinoma panuveitis papillary adenoma peripheral nervous system disease pilocytic astrocytoma placental insufficiency pneumonia polycystic ovary syndrome polyneuropathy primary hyperaldosteronism primary open angle glaucoma proliferative diabetic retinopathy protoplasmic astrocytoma pseudoxanthoma elasticum pyoureter retinal disease retinitis sarcomatoid carcinoma steatotic liver disease stomach cancer stomach carcinoma subependymal giant cell astrocytoma temporal arteritis tuberculosis type 1 diabetes mellitus 10 type 1 diabetes mellitus 11 type 1 diabetes mellitus 12 type 1 diabetes mellitus 13 type 1 diabetes mellitus 15 type 1 diabetes mellitus 17 type 1 diabetes mellitus 18 type 1 diabetes mellitus 19 type 1 diabetes mellitus 20 type 1 diabetes mellitus 21 type 1 diabetes mellitus 22 type 1 diabetes mellitus 23 type 1 diabetes mellitus 24 type 1 diabetes mellitus 2 type 1 diabetes mellitus 3 type 1 diabetes mellitus 4 type 1 diabetes mellitus 5 type 1 diabetes mellitus 6 type 1 diabetes mellitus 7 type 1 diabetes mellitus 8 type 1 diabetes mellitus type 2 diabetes mellitus uremia uterine corpus cancer uterine fibroid uveitis vascular disease vasculitis vasomotor rhinitis
57016	aldo-keto reductase family 1 member B10	AKR1B10 AKR1B12 ALDRLn ARL-1 ARL1 HIS HSI aldo-keto reductase family 1, member B11 (aldose reductase-like) aldose reductase-like 1 aldose reductase-like peptide aldose reductase-related protein small intestine reductase	Barrett's esophagus Burkitt lymphoma Schimke immuno-osseous dysplasia actinic keratosis acute pancreatitis adenocarcinoma adenoma adrenal cortex cancer adult respiratory distress syndrome arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis bile duct adenocarcinoma bile duct carcinoma bladder carcinoma breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma cardiac arrest cervical adenocarcinoma cervical cancer cervix carcinoma cervix uteri carcinoma in situ cholangiocarcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma contact dermatitis coronary artery disease cribriform carcinoma cystic fibrosis diabetes mellitus diabetic cataract diabetic ketoacidosis diabetic retinopathy embryoma endometrial cancer endometrial carcinoma esophageal cancer esophageal carcinoma esophagus adenocarcinoma esophagus squamous cell carcinoma follicular adenoma gallbladder disease gastrointestinal system cancer giant cell glioblastoma glioblastoma granular cell carcinoma hepatitis B hepatitis C hepatocellular carcinoma high grade glioma inflammatory bowel disease 1 inflammatory bowel disease intrahepatic cholangiocarcinoma large intestine cancer leprosy liver cancer liver carcinoma liver cirrhosis liver disease lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma melanoma microcystic adenoma microphthalmia nasopharynx carcinoma neurodegeneration with brain iron accumulation 2a neurodegeneration with brain iron accumulation 2b neurodegeneration with brain iron accumulation 3 neurodegeneration with brain iron accumulation 4 neurodegeneration with brain iron accumulation 5 neurodegeneration with brain iron accumulation 6 neurodegeneration with brain iron accumulation newborn respiratory distress syndrome nicotine dependence nodular prostate obsolete Matthew-Wood syndrome occupational dermatitis pancreatic adenocarcinoma pancreatic cancer pancreatic carcinoma pancreatic ductal adenocarcinoma pancreatitis pantothenate kinase-associated neurodegeneration papillary adenoma parapsoriasis primary immunodeficiency disease prostate cancer prostate carcinoma prostatic adenoma psoriasis pustulosis of palm and sole sarcomatoid carcinoma seborrheic keratosis skin disease skin melanoma squamous cell carcinoma steatotic liver disease stomach cancer stomach carcinoma tongue squamous cell carcinoma tubular adenocarcinoma type 2 diabetes mellitus ulcerative colitis urinary bladder cancer uterine corpus cancer varicose veins
1645	aldo-keto reductase family 1 member C1	AKR1C1 DD1 DDH HAKRC MBAB dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase	B-cell lymphoma Langerhans-cell histiocytosis Marfan syndrome T-cell acute lymphoblastic leukemia X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 amelogenesis imperfecta hypomaturation type 2A2 amelogenesis imperfecta hypomaturation type 2A3 amelogenesis imperfecta hypomaturation type 2A4 amelogenesis imperfecta hypomaturation type 2A5 amelogenesis imperfecta type 1A amelogenesis imperfecta type 1B amelogenesis imperfecta type 1C amelogenesis imperfecta type 1E amelogenesis imperfecta type 1F amelogenesis imperfecta type 1G amelogenesis imperfecta type 1H amelogenesis imperfecta type 2A1 amelogenesis imperfecta type 3A amelogenesis imperfecta type 4 amelogenesis imperfecta anxiety disorder arthritis arthropathy benign mesothelioma bladder carcinoma bone osteosarcoma breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer cervical cancer childhood germ cell cancer childhood osteosarcoma clear cell adenocarcinoma clubfoot colon cancer colonic benign neoplasm colorectal cancer colorectal carcinoma common wart dentin dysplasia dentinogenesis imperfecta disorder of sexual development embryoma embryonal cancer endometrial cancer endometrial carcinoma endometrial hyperplasia endometriosis of ovary endometriosis of uterus endometriosis esophagus squamous cell carcinoma gallbladder disease generalized anxiety disorder germ cell and embryonal cancer germ cell cancer germinoma head and neck squamous cell carcinoma hepatocellular carcinoma hermaphroditism large intestine cancer liver cancer liver carcinoma liver disease lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lung small cell carcinoma lymphoma malignant mesothelioma non-Hodgkin lymphoma obesity obsolete ymphosarcoma osteoarthritis osteosarcoma ovarian cancer ovarian carcinoma panic disorder parapsoriasis phobic disorder polycystic ovary syndrome prostate cancer prostate carcinoma pseudohermaphroditism psoriasis pustulosis of palm and sole reticulosarcoma situs inversus squamous cell carcinoma tongue squamous cell carcinoma tuberous sclerosis urinary bladder cancer uterine corpus cancer
1646	aldo-keto reductase family 1 member C2	AKR1C2 BABP DD DD2 HAKRD MCDR2 dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type III	46,XY sex reversal 8 46,XY sex reversal 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 Barrett's esophagus Pick's disease Reye syndrome X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 adenocarcinoma adenoma amelogenesis imperfecta hypomaturation type 2A2 amelogenesis imperfecta hypomaturation type 2A3 amelogenesis imperfecta hypomaturation type 2A4 amelogenesis imperfecta hypomaturation type 2A5 amelogenesis imperfecta type 1A amelogenesis imperfecta type 1B amelogenesis imperfecta type 1C amelogenesis imperfecta type 1E amelogenesis imperfecta type 1F amelogenesis imperfecta type 1G amelogenesis imperfecta type 1H amelogenesis imperfecta type 2A1 amelogenesis imperfecta type 3A amelogenesis imperfecta type 4 amelogenesis imperfecta arthritis arthropathy benign mesothelioma breast cancer breast carcinoma cancer cerebral degeneration contact dermatitis cribriform carcinoma cryptorchidism dentin dysplasia dentinogenesis imperfecta depressive disorder diabetes mellitus diabetic ketoacidosis disorder of sexual development dysthymic disorder embryoma endometriosis of ovary endometriosis of uterus endometriosis esophagus adenocarcinoma esophagus squamous cell carcinoma granular cell carcinoma hepatocellular carcinoma hermaphroditism hypogonadotropic hypogonadism 23 with or without anosmia liver cancer liver carcinoma lung adenocarcinoma lung cancer lung non-small cell carcinoma lung squamous cell carcinoma major depressive disorder malignant mesothelioma melancholic depression neurotic disorder obesity obsolete melancholia occupational dermatitis osteoarthritis papillary adenocarcinoma papillary renal cell carcinoma polycystic ovary syndrome primary cutaneous amyloidosis prostate cancer prostate carcinoma pseudohermaphroditism squamous cell carcinoma thyroid adenoma thyroid cancer thyroid gland carcinoma thyroid gland papillary carcinoma tongue squamous cell carcinoma tubular adenocarcinoma type 2 diabetes mellitus urinary bladder cancer uterine disease
8644	aldo-keto reductase family 1 member C3	AKR1C3 3-alpha hydroxysteroid dehydrogenase, type II DDX HAKRB KIAA0119 PGFS dihydrodiol dehydrogenase X prostaglandin F synthase	B-cell lymphoma B-lymphoblastic leukemia/lymphoma Langerhans-cell histiocytosis T-cell acute lymphoblastic leukemia Zollinger-Ellison syndrome abdominal obesity-metabolic syndrome 1 acrodermatitis acute lymphoblastic leukemia acute myeloid leukemia adenocarcinoma adenoma adenosarcoma adrenal adenoma adrenal carcinoma adrenal cortex cancer adrenocortical carcinoma adult acute lymphocytic leukemia alcohol dependence alcohol use disorder anaplastic astrocytoma androgen insensitivity syndrome anxiety disorder aortic valve insufficiency atopic dermatitis benign mesothelioma bladder carcinoma breast cancer breast carcinoma breast ductal carcinoma bronchus cancer bronchus carcinoma cancer carcinoma castration-resistant prostate carcinoma cervical adenocarcinoma cervical cancer cervix carcinoma childhood acute lymphocytic leukemia childhood cerebral astrocytoma childhood germ cell cancer childhood leukemia choriocarcinoma chromophobe renal cell carcinoma chronic myeloid leukemia cicatricial pemphigoid clear cell renal cell carcinoma collecting duct carcinoma colon cancer colonic benign neoplasm colorectal cancer cribriform carcinoma dermatitis dermoid cyst of ovary dermoid cyst disease of metabolism disorder of sexual development ductal carcinoma in situ embryoma embryonal cancer endometrial adenocarcinoma endometrial cancer endometrial carcinoma endometrial hyperplasia endometriosis of ovary endometriosis of uterus endometriosis epilepsy esophageal cancer esophageal carcinoma essential hypertension fibrillary astrocytoma gemistocytic astrocytoma generalized anxiety disorder germ cell and embryonal cancer germ cell cancer germinoma glaucoma granular cell carcinoma hepatocellular carcinoma hermaphroditism high grade glioma hyperandrogenism hyperinsulinism hypertension juvenile pilocytic astrocytoma kidney cancer large intestine cancer leukemia liver cancer liver carcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lymphoma malignant astrocytoma malignant mesothelioma nephroblastoma non-Hodgkin lymphoma nonpapillary renal cell carcinoma obesity obsolete ymphosarcoma ovarian cancer ovarian carcinoma panic disorder papillary renal cell carcinoma papillary transitional carcinoma parapsoriasis parathyroid adenoma parathyroid carcinoma phobic disorder pilocytic astrocytoma placenta cancer polycystic ovary syndrome pre-eclampsia prostate adenocarcinoma prostate cancer prostate carcinoma protoplasmic astrocytoma pseudohermaphroditism psoriasis pustulosis of palm and sole renal carcinoma renal cell carcinoma reticulosarcoma sarcomatoid carcinoma sarcomatoid renal cell carcinoma skin squamous cell carcinoma squamous cell carcinoma stomach cancer stomach carcinoma subependymal giant cell astrocytoma tongue squamous cell carcinoma tubular adenocarcinoma urinary bladder cancer uterine corpus cancer
1109	aldo-keto reductase family 1 member C4	AKR1C4 3-alpha hydroxysteroid dehydrogenase, type I 3-alpha-HSD C11 CDR DD4 HAKRA MGC22581 chlordecone reductase dihydrodiol dehydrogenase 4	46,XY sex reversal 8 46,XY sex reversal 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 3 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease Baraitser-Winter syndrome Fraser syndrome Goldenhar syndrome Marfan syndrome Moebius syndrome Muenke Syndrome Nance-Horan syndrome Pick's disease Reye syndrome Richter's syndrome Sakati-Nyhan syndrome Smith-McCort dysplasia Warburg micro syndrome 1 Warburg micro syndrome 2 Warburg micro syndrome 3 Warburg micro syndrome 4 Weissenbacher-Zweymuller syndrome acute myeloid leukemia alcohol dependence alcohol use disorder alopecia amyloidosis androgenic alopecia anemia angle-closure glaucoma bacterial infectious disease bipolar disorder bladder carcinoma branchiootic syndrome breast cancer breast carcinoma cancer cerebral degeneration chikungunya childhood leukemia chronic closed-angle glaucoma chronic lymphocytic leukemia cryptorchidism delusional disorder dementia dengue hemorrhagic fever depressive disorder disorder of sexual development dysthymic disorder embryoma essential hypertension essential thrombocythemia follicular lymphoma glaucoma hepatocellular carcinoma hermaphroditism hypertension hypogonadotropic hypogonadism 23 with or without anosmia influenza leukemia liver cancer liver carcinoma lupus erythematosus macrocytic anemia major depressive disorder melancholic depression myelofibrosis neurotic disorder obsolete melancholia orofaciodigital syndrome I orofaciodigital syndrome X osteoporosis paranoid schizophrenia plasmacytoma polycythemia vera polycythemia primary angle-closure glaucoma primary ciliary dyskinesia 1 primary ciliary dyskinesia pseudohermaphroditism secondary Parkinson disease situs inversus systemic lupus erythematosus tuberous sclerosis urinary bladder cancer viral infectious disease
6718	aldo-keto reductase family 1 member D1	AKR1D1 delta 4-3-ketosteroid-5-beta-reductase	Gilbert syndrome Marfan syndrome Wilson disease acute myocardial infarction bilirubin metabolic disorder blood coagulation disease cholestasis congenital bile acid synthesis defect 2 congenital bile acid synthesis defect coronary thrombosis diabetes mellitus diabetic ketoacidosis diarrhea disease of metabolism gallbladder disease hemochromatosis type 1 hemochromatosis hepatitis A hepatitis intrahepatic cholestasis iron metabolism disease liver disease myocardial infarction obsolete inherited blood coagulation disease osteoporosis rheumatoid arthritis silent myocardial infarction situs inversus steatotic liver disease tropical sprue tuberous sclerosis type 2 diabetes mellitus
8574	aldo-keto reductase family 7 member A2	AKR7A2	Alzheimer's disease pancreatic ductal adenocarcinoma
207	AKT serine/threonine kinase 1	AKT1	Cowden syndrome 6 Parkinson's disease Proteus syndrome alcohol use disorder autosomal recessive polycystic kidney disease bipolar disorder brain ischemia breast cancer cancer chronic myeloid leukemia colon cancer colorectal cancer diabetic retinopathy esophageal cancer esophagus squamous cell carcinoma hepatocellular carcinoma hypertension idiopathic pulmonary fibrosis impotence in situ carcinoma intermediate coronary syndrome invasive ductal carcinoma lung non-small cell carcinoma malignant astrocytoma myocardial infarction ovarian cancer pancreatic cancer pancreatic intraductal papillary-mucinous neoplasm paraplegia prostate adenocarcinoma prostate cancer pulmonary tuberculosis renal cell carcinoma schizophrenia type 2 diabetes mellitus ureteral obstruction urinary bladder cancer vulva cancer
208	AKT serine/threonine kinase 2	AKT2	Parkinson's disease alcohol use disorder cancer colorectal cancer endometrial cancer hepatocellular carcinoma high grade glioma hypertension hypoglycemia hypoinsulinemic hypoglycemia with hemihypertrophy ischemia malignant astrocytoma obesity ovarian carcinoma polycystic ovary syndrome prostate adenocarcinoma prostate cancer prostate carcinoma type 2 diabetes mellitus
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
219	aldehyde dehydrogenase 1 family member B1	ALDH1B1 ALDHX	adenocarcinoma adenoma alcohol dependence alcohol use disorder alcoholic hepatitis alcoholic liver cirrhosis bone osteosarcoma breast cancer breast carcinoma cancer childhood osteosarcoma cholestasis colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma coronary artery disease cribriform carcinoma gallbladder disease granular cell carcinoma hepatocellular carcinoma large intestine cancer liver cancer liver cirrhosis liver disease lung cancer lung non-small cell carcinoma obesity osteosarcoma pancreatic cancer pancreatic carcinoma prostate cancer prostate carcinoma steatotic liver disease succinic semialdehyde dehydrogenase deficiency tubular adenocarcinoma
217	aldehyde dehydrogenase 2 family member	ALDH2	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 Cockayne syndrome Fanconi anemia complementation group A Fanconi anemia Marfan syndrome Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Patau syndrome Pick's disease Prinzmetal angina Reye syndrome Weissenbacher-Zweymuller syndrome Wernicke-Korsakoff syndrome Zollinger-Ellison syndrome abdominal obesity-metabolic syndrome 1 acute chest syndrome acute myocardial infarction acute pancreatitis adenocarcinoma adenoma adrenoleukodystrophy agnosia agranulocytosis alcohol dependence alcohol use disorder alcoholic cardiomyopathy alcoholic hepatitis alcoholic liver cirrhosis alcoholic neuropathy alcoholic pancreatitis allergic asthma amnestic disorder anemia antisocial personality disorder anxiety disorder aplastic anemia arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease asthma atherosclerosis atrial fibrillation atrophic gastritis atrophy of testis attention deficit hyperactivity disorder autistic disorder bacterial sepsis bipolar disorder bladder carcinoma brain infarction brain stem infarction breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma cardiomyopathy cardiovascular system disease carotid artery disease central sleep apnea cerebral artery occlusion cerebral degeneration cerebral infarction cerebrovascular disease chronic interstitial cystitis chronic kidney disease chronic obstructive pulmonary disease cleidocranial dysplasia colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma conduct disorder congenital heart disease congenital merosin-deficient muscular dystrophy 1A congenital muscular dystrophy 1B congenital muscular dystrophy due to LMNA mutation congenital muscular dystrophy due to integrin alpha-7 deficiency congenital myopathy 1A congestive heart failure coronary artery disease coronary artery vasospasm coronary stenosis coronary thrombosis cribriform carcinoma dementia depressive disorder diabetes mellitus diabetic cataract diabetic ketoacidosis diabetic neuropathy diabetic retinopathy disease of mental health dissociative amnesia dysthymic disorder embryoma endocrine exophthalmos endomyocardial fibrosis esophageal cancer esophageal carcinoma esophagus squamous cell carcinoma essential hypertension female breast carcinoma follicular adenoma gallbladder disease generalized anxiety disorder glucose intolerance granular cell carcinoma granuloma annulare head and neck cancer head and neck squamous cell carcinoma heart disease hemochromatosis type 1 hemochromatosis hemorrhoid hepatitis A hepatitis B hepatitis C hepatitis hepatocellular carcinoma heroin dependence humeroradial synostosis hyperglycemia hyperinsulinism hypertension hypertrophic cardiomyopathy hyperuricemia hypopharynx cancer interstitial cystitis intrinsic asthma kwashiorkor large intestine cancer laryngeal benign neoplasm laryngeal carcinoma laryngeal disease larynx cancer late onset Parkinson's disease leukopenia liver cancer liver carcinoma liver cirrhosis liver disease lung benign neoplasm lung cancer lung carcinoma lung disease lymphopenia macrocytic anemia major depressive disorder male infertility marasmus megaconial type congenital muscular dystrophy melancholic depression metabolic dysfunction-associated steatotic liver disease microcystic adenoma middle cerebral artery infarction mitochondrial metabolism disease mitochondrial myopathy morphine dependence muscular dystrophy-dystroglycanopathy type B1 muscular dystrophy-dystroglycanopathy type B5 muscular dystrophy-dystroglycanopathy type B6 myocardial infarction nasopharynx carcinoma nemaline myopathy neurodegenerative disease neurotic disorder neutropenia nutmeg liver nutrition disease obesity obsolete asthenopia obsolete melancholia obsolete type 1 diabetes mellitus 9 opiate dependence oral mucosa leukoplakia oropharynx cancer osteonecrosis osteoporosis ovarian cancer ovarian carcinoma pancreas disease pancreatic cancer pancreatic carcinoma pancreatitis pancytopenia papillary adenoma parapsoriasis perinatal necrotizing enterocolitis personality disorder phobic disorder placental insufficiency prediabetes syndrome primary pulmonary hypertension protein-energy malnutrition prune belly syndrome psoriasis psychotic disorder pustulosis of palm and sole radioulnar synostosis rectal benign neoplasm rectum adenocarcinoma rectum cancer retinal disease retinitis rigid spine muscular dystrophy 1 sarcomatoid carcinoma schizoaffective disorder schizophrenia schizophreniform disorder sick sinus syndrome silent myocardial infarction situs inversus speech-language disorder-1 squamous cell carcinoma steatotic liver disease stomach cancer stomach carcinoma substance abuse substance-related disorder tetralogy of Fallot tongue squamous cell carcinoma tracheal disease tuberculosis tuberous sclerosis tubular adenocarcinoma type 1 diabetes mellitus 10 type 1 diabetes mellitus 11 type 1 diabetes mellitus 12 type 1 diabetes mellitus 13 type 1 diabetes mellitus 15 type 1 diabetes mellitus 17 type 1 diabetes mellitus 18 type 1 diabetes mellitus 19 type 1 diabetes mellitus 20 type 1 diabetes mellitus 21 type 1 diabetes mellitus 22 type 1 diabetes mellitus 23 type 1 diabetes mellitus 24 type 1 diabetes mellitus 2 type 1 diabetes mellitus 3 type 1 diabetes mellitus 4 type 1 diabetes mellitus 5 type 1 diabetes mellitus 6 type 1 diabetes mellitus 7 type 1 diabetes mellitus 8 type 1 diabetes mellitus type 2 diabetes mellitus urinary bladder cancer vascular disease viral infectious disease white sponge nevus
218	aldehyde dehydrogenase 3 family member A1	ALDH3A1 aldehyde dehydrogenase, dimeric NADP-preferring	Sjogren-Larsson syndrome allergic asthma arteriosclerosis asthma breast adenocarcinoma breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma cataract colon cancer colon carcinoma colonic benign neoplasm colorectal cancer depressive disorder dysthymic disorder embryoma giant cell glioblastoma glioblastoma head and neck squamous cell carcinoma hepatocellular carcinoma high grade glioma intrinsic asthma large intestine cancer liver cancer lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma major depressive disorder melancholic depression melanoma mucoepidermoid carcinoma neurotic disorder obsolete congenital ichthyosiform erythroderma obsolete melancholia placental insufficiency pleomorphic adenoma prostate cancer prostate carcinoma pterygium sarcomatoid carcinoma schizophrenia skin melanoma stomach cancer
224	aldehyde dehydrogenase 3 family member A2	ALDH3A2 FALDH fatty aldehyde dehydrogenase	Cogan syndrome Laron syndrome Senior-Loken syndrome Sjogren-Larsson syndrome X-linked adrenal hypoplasia congenita achondroplasia acquired hyperkeratosis acrodermatitis age related macular degeneration allergic asthma alternating hemiplegia of childhood angioedema asthma autonomic neuropathy autosomal recessive congenital ichthyosis 10 autosomal recessive congenital ichthyosis 1 autosomal recessive congenital ichthyosis 2 autosomal recessive congenital ichthyosis 3 autosomal recessive congenital ichthyosis 4A autosomal recessive congenital ichthyosis 5 autosomal recessive congenital ichthyosis 6 autosomal recessive congenital ichthyosis 7 autosomal recessive congenital ichthyosis 8 autosomal recessive congenital ichthyosis 9 autosomal recessive congenital ichthyosis central nervous system disease cerebral palsy cone-rod dystrophy corneal disease degeneration of macula and posterior pole dental enamel hypoplasia dermatitis diabetic ketoacidosis epilepsy ethylmalonic encephalopathy fundus albipunctatus granuloma annulare hepatitis B ichthyosis intellectual disability intrinsic asthma keratoconus keratosis follicularis learning disability lipid metabolism disorder localized scleroderma locked-in syndrome lung cancer lung non-small cell carcinoma macular degeneration microcephaly mongolian spot mucopolysaccharidosis IV multiple epiphyseal dysplasia myopia nephronophthisis nervous system disease normal pressure hydrocephalus obsolete asthenopia obsolete congenital ichthyosiform erythroderma obsolete type 1 diabetes mellitus 9 osteochondrodysplasia papilloma paraplegia pseudoxanthoma elasticum quadriplegia retinal disease retinitis pigmentosa retinitis scleroderma scoliosis spastic diplegia spastic monoplegia spastic quadriplegic cerebral palsy squamous cell papilloma squamous papillomatosis systemic scleroderma 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 urticaria visual epilepsy

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