GlyCosmos Portal

Homo sapiens (human)

Summary

Taxonomy ID: 9606
PubChem Taxonomy: 9606

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

Displaying entries **676 - 700** of **1582** in total

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Gene ID	Gene Name ▼	Gene Symbol	Disease Ontology
51478	hydroxysteroid 17-beta dehydrogenase 7	HSD17B7 PRAP SDR37C1 short chain dehydrogenase/reductase family 37C, member 1	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 Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Pick's disease Reye syndrome Zellweger syndrome adenocarcinoma adenoma adrenal gland cancer androgen insensitivity syndrome basal cell carcinoma breast cancer breast carcinoma breast ductal carcinoma cancer carcinoma cerebral degeneration choriocarcinoma colon adenocarcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma diabetes mellitus diabetic ketoacidosis disorder of sexual development duodenum cancer duodenum disease embryoma endometrial adenocarcinoma endometrial cancer endometrial carcinoma endometrial hyperplasia endometriosis of uterus endometriosis esophageal disease follicular adenoma gallbladder cancer gallbladder carcinoma glaucoma goiter heart cancer hereditary breast ovarian cancer syndrome hermaphroditism hyperandrogenism hypogonadotropic hypogonadism 23 with or without anosmia hypospadias invasive ductal carcinoma large intestine cancer leiomyoma microcystic adenoma multiple sclerosis myofibroma nodular prostate ovarian cancer ovarian carcinoma papillary adenoma peroxisomal disease peroxisome biogenesis disorder 1A pheochromocytoma placenta cancer polycystic ovary syndrome primary immunodeficiency disease prolactinoma prostate cancer prostate carcinoma prostatic adenoma pseudohermaphroditism sebaceous carcinoma small intestine cancer sporadic breast cancer steatotic liver disease steroid inherited metabolic disorder stomach cancer stomach carcinoma stomach disease sweat gland cancer thymic carcinoma thymoma thyroid gland disease type 2 diabetes mellitus uterine corpus cancer uterine fibroid
8630	hydroxysteroid 17-beta dehydrogenase 6	HSD17B6 3(alpha->beta)-hydroxysteroid epimerasel 3-hydroxysteroid epimerase HSE NAD+ -dependent 3 alpha-hydroxysteroid dehydrogenase RODH SDR9C6 oxidative 3-alpha-hydroxysteroid-dehydrogenase oxidoreductase retinol dehydrogenase short chain dehydrogenase/reductase family 9C, member 6	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 Coffin-Lowry syndrome Huntington's disease-like 1 Huntington's disease-like 2 Huntington's disease Japanese encephalitis Leber congenital amaurosis Leigh disease Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Pick's disease Reye syndrome Sjogren-Larsson syndrome autoimmune hepatitis autosomal dominant cerebellar ataxia autosomal recessive congenital ichthyosis 1 breast cancer breast carcinoma bronchus cancer bronchus carcinoma bullous pemphigoid cancer cerebral degeneration chromophobe renal cell carcinoma chronic obstructive pulmonary disease clear cell renal cell carcinoma collecting duct carcinoma cone-rod dystrophy congenital adrenal hyperplasia dengue disease diabetes mellitus embryoma endometrial cancer endometrial carcinoma exocrine pancreatic insufficiency fundus albipunctatus fundus dystrophy gallbladder disease hepatitis ichthyosis keratosis follicularis liver disease lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma melioidosis mitochondrial metabolism disease mitochondrial myopathy mongolian spot multiple sclerosis neuroblastoma neurofibromatosis 1 neurofibromatosis nonpapillary renal cell carcinoma obsolete congenital ichthyosiform erythroderma optic atrophy papillary renal cell carcinoma paraplegia polycystic ovary syndrome prostate cancer prostate carcinoma pseudoxanthoma elasticum renal carcinoma renal cell carcinoma retinitis pigmentosa rheumatoid arthritis sarcomatoid renal cell carcinoma shigellosis spinocerebellar ataxia type 1 systemic lupus erythematosus tuberculosis type 2 diabetes mellitus uterine corpus cancer viral infectious disease yellow fever
3295	hydroxysteroid 17-beta dehydrogenase 4	HSD17B4 17-beta-HSD IV 17-beta-hydroxysteroid dehydrogenase 4 17beta-estradiol dehydrogenase type IV 3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase D-3-hydroxyacyl-CoA dehydratase D-bifunctional protein, peroxisomal DBP MFE-2 SDR8C1 beta-hydroxyacyl dehydrogenase beta-keto-reductase peroxisomal multifunctional protein 2 short chain dehydrogenase/reductase family 8C, member 1	Addison's disease 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 Clouston syndrome D-bifunctional protein deficiency Friedreich ataxia Laron syndrome Perrault syndrome Pick's disease Refsum disease Reye syndrome Stiff-Person syndrome Turner syndrome West syndrome Zellweger syndrome achondroplasia adrenal carcinoma adrenal cortex cancer adrenal cortical hypofunction adrenocortical carcinoma adrenoleukodystrophy alpha-methylacyl-CoA racemase deficiency androgen insensitivity syndrome beta-ketothiolase deficiency blindness breast cancer breast carcinoma cancer carnitine palmitoyltransferase I deficiency cerebellar ataxia cerebellar disease cerebral degeneration cholestasis clubfoot colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma congenital bile acid synthesis defect 4 congenital nystagmus craniosynostosis cystic kidney disease diabetic ketoacidosis dissociated nystagmus endometrial cancer endometrial carcinoma epilepsy essential hypertension gonadal dysgenesis hepatocellular carcinoma hereditary ataxia hydrocephalus hypertension hypertropia infantile Refsum disease large intestine cancer leukodystrophy lipid metabolism disorder liver cancer liver carcinoma mechanical strabismus non-congenital cyst of kidney obesity obsolete infantile epileptic encephalopathy obsolete type 1 diabetes mellitus 9 ophthalmoplegia osteoporosis pathologic nystagmus peroxisomal disease peroxisome biogenesis disorder 1A polycystic ovary syndrome polyhydramnios premature menopause primary cerebellar degeneration primary ovarian insufficiency prostate cancer prostate carcinoma rhizomelic chondrodysplasia punctata type 1 scoliosis seminoma sensorineural hearing loss spontaneous ocular nystagmus steatotic liver disease strabismus testicular cancer testicular germ cell cancer type 1 diabetes mellitus 10 type 1 diabetes mellitus 11 type 1 diabetes mellitus 12 type 1 diabetes mellitus 13 type 1 diabetes mellitus 15 type 1 diabetes mellitus 17 type 1 diabetes mellitus 18 type 1 diabetes mellitus 19 type 1 diabetes mellitus 20 type 1 diabetes mellitus 21 type 1 diabetes mellitus 22 type 1 diabetes mellitus 23 type 1 diabetes mellitus 24 type 1 diabetes mellitus 2 type 1 diabetes mellitus 3 type 1 diabetes mellitus 4 type 1 diabetes mellitus 5 type 1 diabetes mellitus 6 type 1 diabetes mellitus 7 type 1 diabetes mellitus 8 type 1 diabetes mellitus uterine corpus cancer visual epilepsy
3293	hydroxysteroid 17-beta dehydrogenase 3	HSD17B3 SDR12C2 short chain dehydrogenase/reductase family 12C, member 2	17-beta hydroxysteroid dehydrogenase 3 deficiency Alzheimer's disease Kallmann syndrome Sheehan syndrome acne androgen insensitivity syndrome autoimmune hepatitis cancer congenital adrenal hyperplasia congenital hypothyroidism cryptorchidism diabetes mellitus disorder of sexual development endometriosis of uterus endometriosis gynecomastia hepatitis hermaphroditism hypertrophy of breast hypogonadism hypogonadotropic hypogonadism 1 with or without anosmia hypogonadotropic hypogonadism 10 with or without anosmia hypogonadotropic hypogonadism 11 with or without anosmia hypogonadotropic hypogonadism 12 with or without anosmia hypogonadotropic hypogonadism 13 with or without anosmia hypogonadotropic hypogonadism 14 with or without anosmia hypogonadotropic hypogonadism 16 with or without anosmia hypogonadotropic hypogonadism 17 with or without anosmia hypogonadotropic hypogonadism 18 with or without anosmia hypogonadotropic hypogonadism 19 with or without anosmia hypogonadotropic hypogonadism 2 with or without anosmia hypogonadotropic hypogonadism 20 with or without anosmia hypogonadotropic hypogonadism 21 with or without anosmia hypogonadotropic hypogonadism 22 with or without anosmia hypogonadotropic hypogonadism 23 with or without anosmia hypogonadotropic hypogonadism 3 with or without anosmia hypogonadotropic hypogonadism 4 with or without anosmia hypogonadotropic hypogonadism 5 with or without anosmia hypogonadotropic hypogonadism 6 with or without anosmia hypogonadotropic hypogonadism 7 with or without anosmia hypogonadotropic hypogonadism 8 with or without anosmia hypogonadotropic hypogonadism 9 with or without anosmia hypogonadotropic hypogonadism hypopituitarism hypospadias hypothyroidism infant gynecomastia infertility isolated growth hormone deficiency type IA isolated growth hormone deficiency type IB isolated growth hormone deficiency type II isolated growth hormone deficiency type III isolated growth hormone deficiency myxedema nicotine dependence nodular prostate obesity panhypopituitarism premature menopause prostate cancer prostate carcinoma prostatic adenoma pseudohermaphroditism type 2 diabetes mellitus
3294	hydroxysteroid 17-beta dehydrogenase 2	HSD17B2 HSD17 SDR9C2 short chain dehydrogenase/reductase family 9C, member 2	breast cancer breast carcinoma cancer cavernous hemangioma chorioangioma colorectal cancer colorectal carcinoma dilated cardiomyopathy 1A dilated cardiomyopathy embryoma endometrial adenocarcinoma endometrial cancer endometrial carcinoma endometriosis of ovary endometriosis of uterus endometriosis glomus tumor hemangioma hepatocellular carcinoma histiocytoid hemangioma intramuscular hemangioma large intestine cancer leiomyoma liver cancer lymphangioma myofibroma nodular prostate osteoporosis ovarian cancer ovarian carcinoma polycystic ovary syndrome prostate cancer prostate carcinoma prostatic adenoma rectal benign neoplasm rectum adenocarcinoma rectum cancer sporadic breast cancer stomach cancer stomach carcinoma uterine corpus cancer uterine fibroid
51144	hydroxysteroid 17-beta dehydrogenase 12	HSD17B12 3-ketoacyl-CoA reductase KAR SDR12C1 short chain dehydrogenase/reductase family 12C, member 1	breast cancer breast carcinoma cancer carcinoma cardiovascular system disease diabetes mellitus disease of mental health embryoma head and neck squamous cell carcinoma heart disease idiopathic scoliosis intellectual disability invasive ductal carcinoma learning disability melanoma neuroblastoma obesity ovarian cancer ovarian carcinoma prostate cancer prostate carcinoma psychotic disorder sarcomatoid carcinoma schizophrenia skin melanoma type 2 diabetes mellitus
3292	hydroxysteroid 17-beta dehydrogenase 1	HSD17B1 Estradiol 17-beta-dehydrogenase-1 HSD17 MGC138140 SDR28C1 short chain dehydrogenase/reductase family 28CE, member 1	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 Sertoli-Leydig cell tumor T-cell acute lymphoblastic leukemia adenocarcinoma adenoma breast cancer breast carcinoma breast disease breast fibrocystic disease bronchus cancer bronchus carcinoma cancer cerebral degeneration cholera choriocarcinoma colorectal cancer colorectal carcinoma congenital adrenal hyperplasia cribriform carcinoma cystic kidney disease embryoma endometrial adenocarcinoma endometrial cancer endometrial carcinoma endometriosis of ovary endometriosis of uterus endometriosis follicular adenoma granular cell carcinoma hepatocellular carcinoma hereditary breast ovarian cancer syndrome infertility invasive ductal carcinoma lactocele large intestine cancer leiomyoma liver cancer lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lysosomal storage disease male breast cancer microcystic adenoma microglandular adenosis myofibroma nodular prostate non-congenital cyst of kidney obesity osteoporosis ovarian cancer ovarian carcinoma papillary adenoma placenta cancer placental insufficiency polycystic ovary syndrome prostate cancer prostate carcinoma prostatic adenoma sporadic breast cancer squamous cell carcinoma stomach cancer stomach carcinoma tongue squamous cell carcinoma tubular adenocarcinoma uterine corpus cancer uterine disease uterine fibroid
3291	hydroxysteroid 11-beta dehydrogenase 2	HSD11B2 SDR9C3 short chain dehydrogenase/reductase family 9C, member 3	ACTH-secreting pituitary adenoma Bartter disease Clostridium difficile colitis Conn's syndrome Crohn's colitis Crohn's disease Kawasaki disease Laron syndrome Liddle syndrome Waterhouse-Friderichsen syndrome abdominal obesity-metabolic syndrome 1 achondroplasia acute myocardial infarction adenocarcinoma adenoma adrenal adenoma adrenal cortex cancer adrenal gland hyperfunction adult respiratory distress syndrome alcohol dependence alcohol use disorder allergic asthma amnestic disorder anorexia nervosa anxiety disorder apparent mineralocorticoid excess syndrome arthritis arthropathy asphyxia neonatorum asthma atrial fibrillation autoimmune hepatitis bacterial sepsis bone osteosarcoma breast cancer breast carcinoma bronchus cancer bronchus carcinoma calcinosis calcium metabolism disease cancer cardiac arrest cardiovascular system disease cerebral infarction cerebrotendinous xanthomatosis cerebrovascular disease childhood acute lymphocytic leukemia childhood leukemia childhood osteosarcoma choriocarcinoma chromophobe renal cell carcinoma chronic ethmoiditis chronic kidney disease chronic sphenoidal sinusitis clear cell renal cell carcinoma collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma congenital adrenal hyperplasia coronary thrombosis cystic fibrosis depressive disorder diabetes mellitus diabetic ketoacidosis disease of metabolism eclampsia ectopic Cushing syndrome embryoma endemic goiter endometriosis of uterus endometriosis essential hypertension familial nephrotic syndrome fetal alcohol spectrum disorder follicular adenoma follicular lymphoma generalized anxiety disorder gestational diabetes glomerulonephritis glucose intolerance heart disease hepatitis hepatocellular carcinoma hereditary breast ovarian cancer syndrome hypercalcemia hypertension hypertensive retinopathy hypokalemia immune system disease inflammatory bowel disease 1 inflammatory bowel disease inherited metabolic disorder intrinsic asthma irritable bowel syndrome kidney disease kidney failure large intestine cancer leprosy leukemia lipoid nephrosis liver cancer liver cirrhosis lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma melanoma microcystic adenoma mood disorder myocardial infarction nephritis nephrocalcinosis nephrosis nephrotic syndrome neurocirculatory asthenia newborn respiratory distress syndrome obesity obsolete Cushing's syndrome obsolete type 1 diabetes mellitus 9 osteomalacia osteoporosis osteosarcoma ovarian cancer ovarian carcinoma papillary adenoma papillary renal cell carcinoma phobic disorder phosphorus metabolism disease pituitary adenoma pituitary cancer pituitary carcinoma pituitary-dependent Cushing's disease placenta cancer placenta disease placental insufficiency polycystic ovary syndrome pre-eclampsia prediabetes syndrome primary hyperaldosteronism pyoureter renal carcinoma renal cell carcinoma retrograde amnesia rheumatoid arthritis rickets sarcomatoid renal cell carcinoma schizophrenia silent myocardial infarction skin benign neoplasm skin cancer skin carcinoma skin melanoma skin squamous cell carcinoma stomach cancer stomach carcinoma substance abuse substance-related disorder substernal goiter trichohepatoenteric syndrome 1 trichohepatoenteric syndrome 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
3290	hydroxysteroid 11-beta dehydrogenase 1	HSD11B1 SDR26C1 short chain dehydrogenase/reductase family 26C, member 1	ACTH-secreting pituitary adenoma Addison's disease 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 Clostridium difficile colitis Norum disease Pick's disease Reye syndrome Tangier disease Zollinger-Ellison syndrome abdominal obesity-metabolic syndrome 1 abetalipoproteinemia acidophil adenoma acromegaly actinic keratosis acute myocardial infarction adamantinous craniopharyngioma adenocarcinoma adenoma adrenal cortical hypofunction adrenal gland cancer adrenal gland hyperfunction adrenoleukodystrophy age related macular degeneration allergic contact dermatitis alopecia amnestic disorder amyloidosis apparent mineralocorticoid excess syndrome arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy atherosclerosis atopic dermatitis atrial fibrillation bone osteosarcoma breast cancer breast carcinoma bronchiolo-alveolar adenocarcinoma cancer cardiovascular system disease cerebellar ataxia, mental retardation and dysequlibrium syndrome cerebral degeneration cerebrotendinous xanthomatosis childhood osteosarcoma choreaacanthocytosis chronic ethmoiditis chronic kidney disease chronic obstructive pulmonary disease chronic sphenoidal sinusitis colorectal cancer colorectal carcinoma cone-rod dystrophy 2 cone-rod dystrophy congestive heart failure coronary artery disease coronary thrombosis cortisone reductase deficiency 2 cortisone reductase deficiency craniopharyngioma craniosynostosis cribriform carcinoma degeneration of macula and posterior pole dementia depressive disorder dermatitis diabetes mellitus diabetic ketoacidosis disease of mental health disease of metabolism dissociative amnesia dysthymic disorder embryoma essential hypertension familial hyperlipidemia fibromyalgia follicular adenoma functionless pituitary adenoma gallbladder disease gastrointestinal stromal tumor gestational diabetes glaucoma glucose intolerance granular cell carcinoma heart disease hepatocellular carcinoma hyperandrogenism hyperglycemia hyperhomocysteinemia hyperinsulinism hyperpituitarism hypertension hypolipoproteinemia inflammatory bowel disease irritable bowel syndrome large intestine cancer liver cancer liver disease lung cancer macular degeneration major depressive disorder malaria melancholic depression melanoma microcystic adenoma myocardial infarction myositis neurocirculatory asthenia neurotic disorder nutmeg liver obesity obsolete Cushing's syndrome obsolete melancholia obsolete type 1 diabetes mellitus 9 osteoarthritis osteoporosis osteosarcoma papillary adenoma papillary craniopharyngioma pituitary-dependent Cushing's disease pleural tuberculosis pneumonia polycystic ovary syndrome postpartum depression pre-eclampsia prediabetes syndrome primary hyperaldosteronism prostate cancer prostate carcinoma psychotic disorder pulmonary tuberculosis retrograde amnesia rheumatoid arthritis seborrheic keratosis silent myocardial infarction skin benign neoplasm skin cancer skin disease skin melanoma status epilepticus steatotic liver disease synovitis systemic lupus erythematosus tenosynovitis tuberculous pneumothorax tubular adenocarcinoma type 1 diabetes mellitus 10 type 1 diabetes mellitus 11 type 1 diabetes mellitus 12 type 1 diabetes mellitus 13 type 1 diabetes mellitus 15 type 1 diabetes mellitus 17 type 1 diabetes mellitus 18 type 1 diabetes mellitus 19 type 1 diabetes mellitus 20 type 1 diabetes mellitus 21 type 1 diabetes mellitus 22 type 1 diabetes mellitus 23 type 1 diabetes mellitus 24 type 1 diabetes mellitus 2 type 1 diabetes mellitus 3 type 1 diabetes mellitus 4 type 1 diabetes mellitus 5 type 1 diabetes mellitus 6 type 1 diabetes mellitus 7 type 1 diabetes mellitus 8 type 1 diabetes mellitus type 2 diabetes mellitus
81888	hydroxypyruvate isomerase (putative)	HYI HT036	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 cerebral degeneration
3029	hydroxyacylglutathione hydrolase	HAGH GLO2 GLXII HAGH1	Rett syndrome autism spectrum disorder autistic disorder autosomal dominant polycystic kidney disease cancer carcinoma clear cell adenocarcinoma inflammatory breast carcinoma kidney failure lung cancer lung non-small cell carcinoma polycystic kidney disease 1 prostate cancer prostate carcinoma rheumatoid arthritis sarcomatoid carcinoma schizophrenia uremia
109703458	hydroxyacyl-thioester dehydratase type 2	HTD2	rheumatoid arthritis
3032	hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta	HADHB MTPB mitochondrial trifunctional protein, beta subunit	Alzheimer's disease Charcot-Marie-Tooth disease X-linked dominant 1 Charcot-Marie-Tooth disease X-linked dominant 6 Charcot-Marie-Tooth disease X-linked recessive 2 Charcot-Marie-Tooth disease X-linked recessive 3 Charcot-Marie-Tooth disease X-linked recessive 4 Charcot-Marie-Tooth disease X-linked recessive 5 Charcot-Marie-Tooth disease axonal type 2C Charcot-Marie-Tooth disease axonal type 2F Charcot-Marie-Tooth disease axonal type 2H Charcot-Marie-Tooth disease axonal type 2K Charcot-Marie-Tooth disease axonal type 2L Charcot-Marie-Tooth disease axonal type 2N Charcot-Marie-Tooth disease axonal type 2O Charcot-Marie-Tooth disease axonal type 2P Charcot-Marie-Tooth disease axonal type 2Q Charcot-Marie-Tooth disease axonal type 2T Charcot-Marie-Tooth disease axonal type 2U Charcot-Marie-Tooth disease dominant intermediate A Charcot-Marie-Tooth disease dominant intermediate B Charcot-Marie-Tooth disease dominant intermediate C Charcot-Marie-Tooth disease dominant intermediate D Charcot-Marie-Tooth disease dominant intermediate E Charcot-Marie-Tooth disease dominant intermediate F Charcot-Marie-Tooth disease recessive intermediate B Charcot-Marie-Tooth disease recessive intermediate C Charcot-Marie-Tooth disease recessive intermediate D Charcot-Marie-Tooth disease type 1A Charcot-Marie-Tooth disease type 1B Charcot-Marie-Tooth disease type 1C Charcot-Marie-Tooth disease type 1D Charcot-Marie-Tooth disease type 1E Charcot-Marie-Tooth disease type 1F Charcot-Marie-Tooth disease type 2 Charcot-Marie-Tooth disease type 2A1 Charcot-Marie-Tooth disease type 2A2A Charcot-Marie-Tooth disease type 2B1 Charcot-Marie-Tooth disease type 2B2 Charcot-Marie-Tooth disease type 2B Charcot-Marie-Tooth disease type 2D Charcot-Marie-Tooth disease type 2E Charcot-Marie-Tooth disease type 2I Charcot-Marie-Tooth disease type 2J Charcot-Marie-Tooth disease type 2R Charcot-Marie-Tooth disease type 2Y Charcot-Marie-Tooth disease type 4A Charcot-Marie-Tooth disease type 4B1 Charcot-Marie-Tooth disease type 4B2 Charcot-Marie-Tooth disease type 4B3 Charcot-Marie-Tooth disease type 4C Charcot-Marie-Tooth disease type 4D Charcot-Marie-Tooth disease type 4E Charcot-Marie-Tooth disease type 4F Charcot-Marie-Tooth disease type 4G Charcot-Marie-Tooth disease type 4H Charcot-Marie-Tooth disease type 4J Charcot-Marie-Tooth disease type 4K Charcot-Marie-Tooth disease Norum disease Tangier disease X-linked dilated cardiomyopathy abetalipoproteinemia adrenoleukodystrophy agenesis of the corpus callosum with peripheral neuropathy agnosia beta-ketothiolase deficiency breast cancer breast carcinoma cancer cardiomyopathy cardiovascular system disease cholestasis choreaacanthocytosis clubfoot colorectal cancer colorectal carcinoma cone-rod dystrophy congestive heart failure critical illness polyneuropathy developmental coordination disorder 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 embryoma endomyocardial fibrosis epilepsy familial hyperlipidemia familial periodic paralysis fibromyalgia fundus albipunctatus heart disease hereditary neuropathy with liability to pressure palsies hereditary sensory and autonomic neuropathy type 2 hypercalcemia hypertrophic cardiomyopathy hypolipoproteinemia hypoparathyroidism inflammatory and toxic neuropathy intellectual disability lactic acidosis large intestine cancer learning disability lipid metabolism disorder melanoma meningoencephalitis mitochondrial metabolism disease mitochondrial trifunctional protein deficiency mitral valve insufficiency mitral valve prolapse motor peripheral neuropathy myoglobinuria myopathy myositis nephrocalcinosis neuropathy obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum peripheral nervous system disease phosphorus metabolism disease placental insufficiency polydactyly polyneuropathy prostate adenocarcinoma prostate cancer prostate carcinoma prostatitis pseudohypoparathyroidism pseudosarcomatous fibromatosis retinitis pigmentosa sick sinus syndrome skin melanoma steatotic liver disease tricuspid valve insufficiency urea cycle disorder visual epilepsy
3030	hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha	HADHA GBP LCEH LCHAD MTPA gastrin-binding protein long-chain 2-enoyl-CoA hydratase long-chain-3-hydroxyacyl-CoA dehydrogenase mitochondrial trifunctional protein, alpha subunit	Alzheimer's disease Barth syndrome HELLP syndrome Norum disease Reye syndrome Tangier disease X-linked dilated cardiomyopathy abetalipoproteinemia acquired immunodeficiency syndrome adult respiratory distress syndrome agnosia alpha 1-antitrypsin deficiency alternating exotropia amyotrophic lateral sclerosis arthritis arthropathy blindness breast cancer bronchus cancer bronchus carcinoma cancer cardiomyopathy carnitine palmitoyltransferase II deficiency cerebral infarction cerebrovascular disease cholestasis choreaacanthocytosis clubfoot cone-rod dystrophy congenital adrenal hyperplasia congenital stationary night blindness 1A congenital stationary night blindness congestive heart failure coronary artery disease cystinuria cytochrome-c oxidase deficiency disease developmental coordination disorder diabetes mellitus dilated cardiomyopathy 1AA dilated cardiomyopathy 1B dilated cardiomyopathy 1BB dilated cardiomyopathy 1C dilated cardiomyopathy 1CC dilated cardiomyopathy 1D dilated cardiomyopathy 1DD dilated cardiomyopathy 1E dilated cardiomyopathy 1EE dilated cardiomyopathy 1FF dilated cardiomyopathy 1G dilated cardiomyopathy 1GG dilated cardiomyopathy 1H dilated cardiomyopathy 1HH dilated cardiomyopathy 1I dilated cardiomyopathy 1II dilated cardiomyopathy 1JJ dilated cardiomyopathy 1K dilated cardiomyopathy 1KK dilated cardiomyopathy 1L dilated cardiomyopathy 1M dilated cardiomyopathy 1NN dilated cardiomyopathy 1O dilated cardiomyopathy 1P dilated cardiomyopathy 1Q dilated cardiomyopathy 1R dilated cardiomyopathy 1S dilated cardiomyopathy 1T dilated cardiomyopathy 1U dilated cardiomyopathy 1V dilated cardiomyopathy 1W dilated cardiomyopathy 1X dilated cardiomyopathy 1Y dilated cardiomyopathy 1Z dilated cardiomyopathy 2A dilated cardiomyopathy 2B dilated cardiomyopathy disease of metabolism endomyocardial fibrosis epilepsy exotropia familial hypertrophic cardiomyopathy familial periodic paralysis fibromyalgia fundus albipunctatus galactosemia gallbladder disease 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 hemophagocytic lymphohistiocytosis hepatitis C human immunodeficiency virus infectious disease hypercalcemia hypertrophic cardiomyopathy hypoglycemia hypolipoproteinemia hypoparathyroidism inflammatory bowel disease inherited metabolic disorder intellectual disability lactic acidosis learning disability lipid metabolism disorder liver disease lung benign neoplasm lung cancer lung carcinoma metabolic dysfunction-associated steatotic liver disease mitochondrial trifunctional protein deficiency mitral valve insufficiency mitral valve prolapse monocular exotropia myoglobinuria myopathy myopia myositis nephrocalcinosis neuropathy newborn respiratory distress syndrome night blindness obesity obsolete asthenopia osteoarthritis peripheral nervous system disease phosphorus metabolism disease placental insufficiency polyneuropathy pre-eclampsia progressive muscular atrophy prostate cancer prostate carcinoma prostatitis pseudohypoparathyroidism pseudosarcomatous fibromatosis retinal disease retinitis pigmentosa retinitis sick sinus syndrome staphyloma posticum steatotic liver disease sudden infant death syndrome tricuspid valve insufficiency type 2 diabetes mellitus urea cycle disorder visual epilepsy von Willebrand's disease 2 von Willebrand's disease
3033	hydroxyacyl-CoA dehydrogenase	HADH HADH1 SCHAD	X-linked dilated cardiomyopathy Zollinger-Ellison syndrome abdominal obesity-metabolic syndrome 1 acute myocardial infarction adrenoleukodystrophy agnosia cancer cardiomyopathy cone-rod dystrophy congestive heart failure coronary thrombosis developmental coordination disorder diabetes mellitus diarrhea dilated cardiomyopathy 1AA dilated cardiomyopathy 1B dilated cardiomyopathy 1BB dilated cardiomyopathy 1C dilated cardiomyopathy 1CC dilated cardiomyopathy 1D dilated cardiomyopathy 1DD dilated cardiomyopathy 1E dilated cardiomyopathy 1EE dilated cardiomyopathy 1FF dilated cardiomyopathy 1G dilated cardiomyopathy 1GG dilated cardiomyopathy 1H dilated cardiomyopathy 1HH dilated cardiomyopathy 1I dilated cardiomyopathy 1II dilated cardiomyopathy 1JJ dilated cardiomyopathy 1K dilated cardiomyopathy 1KK dilated cardiomyopathy 1L dilated cardiomyopathy 1M dilated cardiomyopathy 1NN dilated cardiomyopathy 1O dilated cardiomyopathy 1P dilated cardiomyopathy 1Q dilated cardiomyopathy 1R dilated cardiomyopathy 1S dilated cardiomyopathy 1T dilated cardiomyopathy 1U dilated cardiomyopathy 1V dilated cardiomyopathy 1W dilated cardiomyopathy 1X dilated cardiomyopathy 1Y dilated cardiomyopathy 1Z dilated cardiomyopathy 2A dilated cardiomyopathy 2B dilated cardiomyopathy disease of metabolism embryoma endomyocardial fibrosis familial hyperinsulinemic hypoglycemia 1 familial hyperinsulinemic hypoglycemia 2 familial hyperinsulinemic hypoglycemia 4 familial hypertrophic cardiomyopathy fundus albipunctatus gallbladder disease hepatitis hyperinsulinemic hypoglycemia hyperinsulinism hypertrophic cardiomyopathy hypoglycemia hypoglycemic coma intellectual disability lactic acidosis laryngeal benign neoplasm laryngeal carcinoma larynx cancer learning disability liver disease maple syrup urine disease mitochondrial trifunctional protein deficiency myocardial infarction myoglobinuria neuropathy obesity peripheral nervous system disease peroxisomal disease placental insufficiency retinitis pigmentosa silent myocardial infarction steatotic liver disease type 2 diabetes mellitus urea cycle disorder
51179	hydroxyacid oxidase 2	HAO2 (S)-2-hydroxy-acid oxidase GIG16 HAOX2 glycolate oxidase growth-inhibiting protein 16 long-chain L-2-hydroxy acid oxidase	cancer cholestasis chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma embryoma familial hyperinsulinemic hypoglycemia 1 familial hyperinsulinemic hypoglycemia 2 hepatocellular carcinoma hyperinsulinemic hypoglycemia inherited metabolic disorder liver cancer nonpapillary renal cell carcinoma papillary renal cell carcinoma primary hyperoxaluria renal carcinoma renal cell carcinoma sarcomatoid renal cell carcinoma
54363	hydroxyacid oxidase 1	HAO1 GOX glycolate oxidase 1	familial hyperinsulinemic hypoglycemia 1 familial hyperinsulinemic hypoglycemia 2 hyperinsulinemic hypoglycemia inherited metabolic disorder nephrolithiasis primary hyperoxaluria prostate cancer prostate carcinoma uric acid nephrolithiasis
80270	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7	HSD3B7 C(27)-3BETA-HSD SDR11E3 short chain dehydrogenase/reductase family 11E, member 3	Gilbert syndrome Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease bilirubin metabolic disorder blood coagulation disease cancer cholestasis congenital bile acid synthesis defect 1 congenital bile acid synthesis defect congenital stationary night blindness 1A congenital stationary night blindness diarrhea gallbladder disease giant cell glioblastoma glioblastoma high grade glioma intrahepatic cholestasis liver disease neuropathy night blindness obsolete inherited blood coagulation disease obsolete steatorrhea osteomalacia osteoporosis peripheral nervous system disease progressive familial intrahepatic cholestasis 1 progressive familial intrahepatic cholestasis 4 progressive familial intrahepatic cholestasis rickets tropical sprue
3284	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	HSD3B2 SDR11E2 short chain dehydrogenase/reductase family 11E, member 2	Alzheimer's disease Bartter disease Conn's syndrome Sertoli cell-only syndrome Waterhouse-Friderichsen syndrome X-linked spermatogenic failure 1 acne adrenal adenoma adrenal cortex cancer adrenal gland hyperfunction autoimmune hepatitis bipolar disorder bladder carcinoma congenital adrenal hyperplasia cryptorchidism delusional disorder depressive disorder disorder of sexual development endometrial cancer endometrial carcinoma endometriosis of uterus endometriosis essential hypertension gynecomastia hepatitis hepatocellular carcinoma hermaphroditism hyperandrogenism hyperprolactinemia hypertension hypertrichosis hypertrophy of breast hypogonadotropic hypogonadism 23 with or without anosmia hypospadias infant gynecomastia lactic acidosis liver cancer major depressive disorder melancholic depression obsolete Cushing's syndrome obsolete melancholia osteoporosis paranoid schizophrenia polycystic ovary syndrome pre-eclampsia primary hyperaldosteronism prostate cancer prostate carcinoma pseudohermaphroditism urinary bladder cancer uterine corpus cancer
3283	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	HSD3B1 SDR11E1 short chain dehydrogenase/reductase family 11E, member 1	Bartter disease Conn's syndrome Waterhouse-Friderichsen syndrome acne adenocarcinoma adenoma adrenal gland hyperfunction alopecia aortic valve insufficiency bladder carcinoma breast cancer breast carcinoma cancer carcinoma choriocarcinoma congenital adrenal hyperplasia congenital hypothyroidism diabetes mellitus diabetic ketoacidosis disorder of sexual development endometrial cancer endometrial carcinoma endometriosis of uterus endometriosis essential hypertension follicular adenoma hermaphroditism hyperprolactinemia hypertension hypogonadism hypothyroidism kwashiorkor lesion of sciatic nerve marasmus microcystic adenoma myxedema nutrition disease obsolete Cushing's syndrome papillary adenoma placenta cancer polycystic ovary syndrome pre-eclampsia primary cutaneous amyloidosis primary hyperaldosteronism prostate cancer prostate carcinoma protein-energy malnutrition pseudohermaphroditism sarcomatoid carcinoma sciatic neuropathy stomach cancer stomach carcinoma trophoblastic neoplasm type 2 diabetes mellitus urinary bladder cancer uterine corpus cancer
23553	hyaluronidase 4	HYAL4	oxyphilic adenoma renal oncocytoma
8372	hyaluronidase 3	HYAL3 LUCA-3 LUCA14 Minna14	basal cell carcinoma cancer carcinoma central nervous system cancer embryoma endometrial cancer endometrial carcinoma glaucoma gliosarcoma high grade glioma lung squamous cell carcinoma mixed glioma sarcomatoid carcinoma uterine corpus cancer
8692	hyaluronidase 2	HYAL2 LUCA2 LuCa-2 PH-20 homolog lysosomal hyaluronidase	B-cell lymphoma acute chest syndrome adenocarcinoma adenoma adult lymphoma arthritis arthropathy breast cancer breast carcinoma bronchiolo-alveolar adenocarcinoma bronchus cancer bronchus carcinoma cancer carcinoma central nervous system cancer central nervous system lymphoma childhood lymphoma colitis colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma congenital heart disease cribriform carcinoma dysplastic nevus syndrome embryoma endometrial cancer endometrial carcinoma endometriosis of uterus endometriosis gastroenteritis gliosarcoma granular cell carcinoma high grade glioma ileitis ileocolitis inflammatory bowel disease large intestine cancer lung benign neoplasm lung cancer lung carcinoma lung small cell carcinoma lymphoma melanoma microphthalmia mixed glioma mucopolysaccharidosis II mucopolysaccharidosis III mucopolysaccharidosis IV mucopolysaccharidosis IX mucopolysaccharidosis VI mucopolysaccharidosis obsolete Matthew-Wood syndrome obsolete ymphosarcoma osteoarthritis primary pulmonary hypertension pulmonary hypertension reticulosarcoma rheumatoid arthritis sarcomatoid carcinoma skin melanoma squamous cell carcinoma tongue squamous cell carcinoma tubular adenocarcinoma uterine corpus cancer
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
3038	hyaluronan synthase 3	HAS3	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 adenocarcinoma adenoma arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis atopic dermatitis basal cell carcinoma bone osteosarcoma cancer carcinoma cardiomyopathy cerebral degeneration childhood osteosarcoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer coronary artery disease cribriform carcinoma dermatitis diabetes mellitus endomyocardial fibrosis esophagus squamous cell carcinoma gallbladder disease gingival fibromatosis glomerulonephritis granular cell carcinoma hepatitis A hepatitis hepatocellular carcinoma hypertrophic cardiomyopathy kidney disease large intestine cancer liver cancer liver disease lung cancer lung non-small cell carcinoma melanoma nephritis nephrosis neuroblastoma osteosarcoma polycystic ovary syndrome primary pulmonary hypertension prostate cancer prostate carcinoma pulmonary hypertension pyoureter rheumatoid arthritis sarcomatoid carcinoma skin melanoma steatotic liver disease transitional cell carcinoma tubular adenocarcinoma type 2 diabetes mellitus

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