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GlyCosmos Genes

Integrated list of glycan-related genes extracted KEGG GENES Database, UniProt, GlycoGene Database (GGDB), Plant GARDEN and FlyGlycoDB. Glycan-related genes including glycosyltransferase, hydrolase activity (acting on glycosyl bonds), carbohydrate metabolic process, etc .

Source	Last Updated
FlyGlycoDB	March 25, 2024
GlycoGene Database (GGDB)	January 26, 2018
KEGG GENES Database	September 20, 2023
Plant GARDEN	May 28, 2020
UniProt	July 8, 2024

Selecting the function you want to look up from the categories displays a list narrowed down to glycan-related genes with that function (Gene Ontology).

Catalytic activity

glycosyltransferase activity

hydrolase activity, acting on glycosyl bonds

Binding

carbohydrate binding

Response to carbohydrate

Primary metabolic process

Displaying entries **401 - 425** of **1582** in total

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Gene ID	Gene Name ▼	Gene Symbol	Organism	Disease Ontology
5226	phosphogluconate dehydrogenase	PGD	Homo sapiens (human)	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 Down syndrome Huntington's disease-like 1 Huntington's disease-like 2 Huntington's disease Leber hereditary optic neuropathy Leigh disease Marfan syndrome Meckel syndrome 3 Meckel syndrome Pick's disease Plasmodium vivax malaria Reye syndrome Turner syndrome adenocarcinoma adenoma allergic asthma alpha thalassemia-X-linked intellectual disability syndrome alpha thalassemia-intellectual disability syndrome type 1 alpha thalassemia androgen insensitivity syndrome asthma atopic dermatitis autosomal dominant polycystic kidney disease azoospermia beta thalassemia breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer cerebral degeneration cervical adenocarcinoma cervical cancer cervix carcinoma childhood leukemia cribriform carcinoma cutaneous leishmaniasis cystic fibrosis depressive disorder dermatitis disorder of sexual development dysgerminoma dysthymic disorder embryoma esophageal cancer esophageal carcinoma esophagus squamous cell carcinoma fragile X syndrome gonadal dysgenesis gonadoblastoma granular cell carcinoma hemoglobin H disease hepatocellular carcinoma hermaphroditism inflammatory bowel disease 1 inflammatory bowel disease intrinsic asthma leukemia liver cancer lung benign neoplasm lung cancer lung carcinoma major depressive disorder malaria melancholic depression microcephaly microphthalmia mixed gonadal dysgenesis mood disorder myotonic disease myotonic dystrophy type 1 myotonic dystrophy type 2 neurofibromatosis 1 neurofibromatosis neurotic disorder obsolete Matthew-Wood syndrome obsolete melancholia polycystic kidney disease 1 premature menopause pseudohermaphroditism seminoma situs inversus squamous cell carcinoma testicular cancer testicular germ cell cancer testis seminoma thalassemia thyroid gland anaplastic carcinoma tongue squamous cell carcinoma tuberous sclerosis tubular adenocarcinoma ulcerative colitis vitiligo
5239	phosphoglucomutase 5	PGM5 Aliases: PGMRP phosphoglucomutase-related protein	Homo sapiens (human)	bladder carcinoma colorectal cancer colorectal carcinoma hepatocellular carcinoma large intestine cancer liver cancer liver carcinoma urinary bladder cancer
5238	phosphoglucomutase 3	PGM3 Aliases: AGM1 DKFZP434B187 PAGM acetylglucosamine phosphomutase phosphoacetylglucosamine mutase	Homo sapiens (human)	Desbuquois dysplasia Laron syndrome MHC class II deficiency Richter's syndrome achondroplasia adenosine deaminase deficiency agranulocytosis allergic asthma allergic rhinitis asthma atopic dermatitis bacterial sepsis breast cancer breast carcinoma bronchiectasis cancer central nervous system lymphoma cervical cancer chronic ethmoiditis chronic lymphocytic leukemia chronic sphenoidal sinusitis chronic ulcer of skin combined T cell and B cell immunodeficiency congenital disorder of glycosylation cystic fibrosis dermatitis epilepsy esophagitis gastroesophageal reflux disease granuloma annulare hemolytic anemia hyper IgE recurrent infection syndrome 1 hypereosinophilic syndrome immunodeficiency 23 intellectual disability intrinsic asthma lactose intolerance learning disability lymphoma lymphopenia membranoproliferative glomerulonephritis mucopolysaccharidosis IV multiple epiphyseal dysplasia neuropathy neutropenia obsolete ymphosarcoma osteochondrodysplasia osteomyelitis otitis media pancytopenia peptic esophagitis peripheral nervous system disease polyneuropathy primary immunodeficiency disease scoliosis sensorineural hearing loss severe combined immunodeficiency severe congenital neutropenia subacute sclerosing panencephalitis teratoma vasomotor rhinitis visual epilepsy
283209	phosphoglucomutase 2 like 1	PGM2L1 Aliases: BM32A FLJ32029 glucose-1,6-bisphosphate synthase	Homo sapiens (human)
55276	phosphoglucomutase 2	PGM2 Aliases: FLJ10983 phosphopentomutase	Homo sapiens (human)
5236	phosphoglucomutase 1	PGM1	Homo sapiens (human)	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 Laron syndrome Marfan syndrome NGLY1-deficiency Plasmodium falciparum malaria Plasmodium vivax malaria X-linked dilated cardiomyopathy achondroplasia actinic keratosis agenesis of the corpus callosum with peripheral neuropathy cancer cardiomyopathy cleft palate colorectal cancer colorectal carcinoma congenital disorder of glycosylation It congenital disorder of glycosylation type I congenital disorder of glycosylation coronary artery disease cystinuria diabetes mellitus diabetic ketoacidosis 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 disease of metabolism embryoma endometrial cancer endomyocardial fibrosis familial hyperinsulinemic hypoglycemia 1 familial hyperinsulinemic hypoglycemia 2 familial periodic paralysis galactosemia gestational trophoblastic neoplasm 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 V glycogen storage disease hepatitis hepatocellular carcinoma hereditary neuropathy with liability to pressure palsies hereditary sensory and autonomic neuropathy type 2 hyperinsulinemic hypoglycemia hypertrophic cardiomyopathy hypoglycemia isolated cleft palate large intestine cancer liver cancer localized scleroderma lupus nephritis malaria malignant teratoma mature teratoma mood disorder motor peripheral neuropathy myopathy obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum obsolete type 1 diabetes mellitus 9 papillary adenocarcinoma papillary renal cell carcinoma phenylketonuria psoriatic arthritis rheumatoid arthritis scleroderma seborrheic keratosis sick sinus syndrome situs inversus skin disease steatotic liver disease systemic lupus erythematosus systemic scleroderma teratoma thyroid gland papillary carcinoma tuberculosis tuberous sclerosis type 1 diabetes mellitus 10 type 1 diabetes mellitus 11 type 1 diabetes mellitus 12 type 1 diabetes mellitus 13 type 1 diabetes mellitus 15 type 1 diabetes mellitus 17 type 1 diabetes mellitus 18 type 1 diabetes mellitus 19 type 1 diabetes mellitus 20 type 1 diabetes mellitus 21 type 1 diabetes mellitus 22 type 1 diabetes mellitus 23 type 1 diabetes mellitus 24 type 1 diabetes mellitus 2 type 1 diabetes mellitus 3 type 1 diabetes mellitus 4 type 1 diabetes mellitus 5 type 1 diabetes mellitus 6 type 1 diabetes mellitus 7 type 1 diabetes mellitus 8 type 1 diabetes mellitus type 2 diabetes mellitus
5214	phosphofructokinase, platelet	PFKP Aliases: PFK-C PFKF Phosphofructokinase, platelet type	Homo sapiens (human)	adenocarcinoma adenoma breast cancer cancer cholangiocarcinoma cribriform carcinoma disease of metabolism embryoma glycogen storage disease granular cell carcinoma intrahepatic cholangiocarcinoma obesity pancreatic cancer pancreatic carcinoma renal tubular acidosis tubular adenocarcinoma
5213	phosphofructokinase, muscle	PFKM Aliases: PFK-1 PPP1R122 protein phosphatase 1, regulatory subunit 122	Homo sapiens (human)	D-bifunctional protein deficiency adenocarcinoma adenoma anemia breast cancer breast carcinoma cancer carcinoma carnitine palmitoyltransferase I deficiency cholecystolithiasis choledocholithiasis cholelithiasis coronary artery disease cribriform carcinoma cystinuria diabetes mellitus disease of metabolism embryoma galactosemia giant cell glioblastoma glioblastoma glucosephosphate dehydrogenase deficiency glycogen storage disease IV glycogen storage disease IXa glycogen storage disease IXb glycogen storage disease IXc glycogen storage disease IXd glycogen storage disease Ia glycogen storage disease VI glycogen storage disease VII glycogen storage disease gout granular cell carcinoma hemolytic anemia hepatocellular carcinoma high grade glioma hyperglycemia hyperuricemia liver cancer liver carcinoma macrocytic anemia pancreatic cancer pancreatic carcinoma pseudosarcomatous fibromatosis renal tubular acidosis sarcomatoid carcinoma schizophrenia tuberculosis tubular adenocarcinoma type 2 diabetes mellitus
5211	phosphofructokinase, liver type	PFKL	Homo sapiens (human)	Down syndrome Lafora disease Unverricht-Lundborg syndrome arteriosclerotic cardiovascular disease atherosclerosis bipolar disorder coronary artery disease cystinuria dentatorubral-pallidoluysian atrophy disease of metabolism early myoclonic encephalopathy 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 hepatocellular carcinoma liver cancer mood disorder obsolete major affective disorder 1 obsolete major affective disorder 2 progressive myoclonus epilepsy 1A progressive myoclonus epilepsy tetralogy of Fallot ventricular septal defect
162466	phosphoethanolamine/phosphocholine phosphatase 1	PHOSPHO1	Homo sapiens (human)	diabetes mellitus osteomalacia rickets type 2 diabetes mellitus
5106	phosphoenolpyruvate carboxykinase 2, mitochondrial	PCK2 Aliases: PEPCK PEPCK2	Homo sapiens (human)	abdominal obesity-metabolic syndrome 1 bone osteosarcoma bronchus cancer bronchus carcinoma cancer childhood osteosarcoma diabetes mellitus diabetic ketoacidosis disease of metabolism embryoma hepatitis C hepatocellular carcinoma hyperglycemia hypoglycemia kwashiorkor liver cancer liver carcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma marasmus melanoma nutrition disease obesity osteosarcoma prostate cancer prostate carcinoma protein-energy malnutrition pyruvate carboxylase deficiency disease pyruvate decarboxylase deficiency rectal benign neoplasm rectum adenocarcinoma rectum cancer skin melanoma steatotic liver disease type 2 diabetes mellitus viral infectious disease
5105	phosphoenolpyruvate carboxykinase 1	PCK1 Aliases: PEPCK-C	Homo sapiens (human)	Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease Pick's disease Reye syndrome abdominal obesity-metabolic syndrome 1 biliary atresia cancer celiac disease cerebral degeneration colorectal cancer colorectal carcinoma congenital generalized lipodystrophy type 1 congenital generalized lipodystrophy type 2 congenital generalized lipodystrophy type 3 congenital generalized lipodystrophy type 4 congestive heart failure cryptococcosis cystic fibrosis diabetes mellitus diabetic ketoacidosis embryoma epilepsy gestational diabetes hepatic coma hepatic encephalopathy hepatocellular carcinoma hyperglycemia hypoglycemia lactic acidosis large intestine cancer leprosy lipoatrophic diabetes mellitus lipodystrophy liver cancer liver carcinoma maturity-onset diabetes of the young metabolic dysfunction-associated steatohepatitis multiple sclerosis obesity optic atrophy placental insufficiency pyruvate carboxylase deficiency disease pyruvate decarboxylase deficiency schizophrenia steatotic liver disease type 2 diabetes mellitus visual epilepsy
81490	phosphatidylserine synthase 2	PTDSS2 Aliases: PSS2	Homo sapiens (human)
9791	phosphatidylserine synthase 1	PTDSS1 Aliases: KIAA0024 PSS1 PSSA	Homo sapiens (human)	Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease Bell's palsy Hailey-Hailey disease Laron syndrome Lenz-Majewski hyperostotic dwarfism Pick's disease Reye syndrome Rothmund-Thomson syndrome achondroplasia aortic disease aortic valve disease 2 aortic valve stenosis autistic disorder autosomal dominant cutis laxa 1 autosomal dominant cutis laxa 2 autosomal dominant cutis laxa 3 autosomal dominant cutis laxa autosomal dominant osteopetrosis 2 autosomal recessive cutis laxa type IA autosomal recessive cutis laxa type IB autosomal recessive cutis laxa type II classic type autosomal recessive cutis laxa type IIA autosomal recessive cutis laxa type IIB autosomal recessive cutis laxa type IIC autosomal recessive cutis laxa type IID autosomal recessive cutis laxa type IIIA autosomal recessive cutis laxa type IIIB autosomal recessive osteopetrosis 7 cerebral degeneration choanal atresia communicating hydrocephalus cryptorchidism cutis laxa dental enamel hypoplasia facial nerve disease facial paralysis humeroradial synostosis hydrocephalus hypogonadism hypospadias inguinal hernia intellectual disability lateral meningocele syndrome learning disability mal de Meleda obstructive hydrocephalus osteopetrosis osteosclerosis placental insufficiency priapism restrictive dermopathy scoliosis senile degeneration of brain sensorineural hearing loss syndactyly tongue disease
23761	phosphatidylserine decarboxylase	PISD Aliases: PSDC dJ858B16.2	Homo sapiens (human)	Parkinson's disease cancer chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma common wart embryoma microcephaly nonpapillary renal cell carcinoma papillary renal cell carcinoma renal carcinoma renal cell carcinoma retinal disease sarcomatoid renal cell carcinoma
79837	phosphatidylinositol-5-phosphate 4-kinase type 2 gamma	PIP4K2C Aliases: FLJ22055	Homo sapiens (human)	bipolar disorder breast cancer cancer diabetic ketoacidosis embryoma lingual-facial-buccal dyskinesia obsolete type 1 diabetes mellitus 9 schizophrenia 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
8396	phosphatidylinositol-5-phosphate 4-kinase type 2 beta	PIP4K2B Aliases: PIP5KIIB PIP5KIIbeta	Homo sapiens (human)	acute myeloid leukemia breast cancer breast carcinoma cancer embryoma pancreatic cancer pancreatic carcinoma
5305	phosphatidylinositol-5-phosphate 4-kinase type 2 alpha	PIP4K2A Aliases: PIP5KIIA PIP5KIIalpha	Homo sapiens (human)	Burkitt lymphoma Down syndrome acute lymphoblastic leukemia acute myeloid leukemia adult acute lymphocytic leukemia bipolar disorder breast cancer breast carcinoma cancer childhood acute lymphocytic leukemia childhood leukemia disease of mental health essential thrombocythemia giant cell glioblastoma glioblastoma hematologic cancer high grade glioma leukemia lingual-facial-buccal dyskinesia lymphoblastic lymphoma lysosomal storage disease melanoma myelodysplastic syndrome obsolete major affective disorder 1 obsolete major affective disorder 2 psychotic disorder schizophrenia skin melanoma
23396	phosphatidylinositol-4-phosphate 5-kinase type 1 gamma	PIP5K1C Aliases: KIAA0589 LCCS3 PIP5Kgamma	Homo sapiens (human)	breast cancer breast carcinoma cancer invasive ductal carcinoma lethal congenital contracture syndrome 3 rabies
8395	phosphatidylinositol-4-phosphate 5-kinase type 1 beta	PIP5K1B Aliases: MSS4 STM7	Homo sapiens (human)	Friedreich ataxia 1 Friedreich ataxia allergic asthma asthma cancer chronic kidney disease diabetes mellitus diabetic ketoacidosis embryoma intrinsic asthma osteoporosis pancreatic cancer pancreatic carcinoma type 2 diabetes mellitus
8394	phosphatidylinositol-4-phosphate 5-kinase type 1 alpha	PIP5K1A	Homo sapiens (human)	breast cancer cancer colon cancer colon carcinoma colonic benign neoplasm colorectal cancer episodic kinesigenic dyskinesia 1 large intestine cancer pancreatic cancer pancreatic carcinoma prostate cancer prostate carcinoma
138429	phosphatidylinositol-4-phosphate 5-kinase like 1	PIP5KL1 Aliases: MGC46424 bA203J24.5	Homo sapiens (human)	cancer cervical cancer cervix carcinoma embryoma stomach cancer stomach carcinoma in situ stomach carcinoma
5288	phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 gamma	PIK3C2G	Homo sapiens (human)	acute myocardial infarction cancer coronary thrombosis diabetes mellitus embryoma familial hyperlipidemia myocardial infarction neuroblastoma progressive supranuclear palsy silent myocardial infarction type 2 diabetes mellitus
5287	phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 beta	PIK3C2B Aliases: C2-PI3K PI3K-C2beta	Homo sapiens (human)	Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Richter's syndrome adult acute lymphocytic leukemia breast cancer breast carcinoma cancer central nervous system cancer cerebral infarction cerebrovascular disease chronic lymphocytic leukemia esophagus squamous cell carcinoma giant cell glioblastoma glioblastoma gliosarcoma hepatitis C hepatocellular carcinoma high grade glioma liver cancer lung cancer lung non-small cell carcinoma lung small cell carcinoma mixed glioma neuroblastoma prostate cancer prostate carcinoma scleroderma systemic scleroderma
5286	phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha	PIK3C2A Aliases: PI3K-C2alpha Phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha	Homo sapiens (human)	Duchenne muscular dystrophy Gamstorp-Wohlfart syndrome Kaposi's sarcoma Laron syndrome Norum disease Tangier disease Unverricht-Lundborg syndrome abetalipoproteinemia achondroplasia acquired immunodeficiency syndrome acute myocardial infarction anodontia arteriosclerotic cardiovascular disease atherosclerosis atypical chronic myeloid leukemia, BCR-ABL1 negative 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 blepharospasm breast cancer breast carcinoma cancer cataract choreaacanthocytosis chronic monocytic leukemia congenital hypothyroidism congenital muscular dystrophy coronary artery disease coronary thrombosis cryptorchidism diabetes mellitus disease of mental health distal myopathy early myoclonic encephalopathy embryoma episodic ataxia type 1 facioscapulohumeral muscular dystrophy familial periodic paralysis fibromyalgia focal hand dystonia gastrointestinal stromal tumor glaucoma hypercalcemia hyperphosphatemia hypolipoproteinemia hypothyroidism leukopenia limb-girdle muscular dystrophy lymphoid leukemia muscular dystrophy myeloid leukemia myocardial infarction myofibrillar myopathy 1 myofibrillar myopathy 3 myopathy myositis myotonic dystrophy type 2 myxedema nephrocalcinosis neuroleptic malignant syndrome nutmeg liver 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 phosphorus metabolism disease placental insufficiency protein-losing enteropathy psychotic disorder rippling muscle disease 2 schizoaffective disorder schizophrenia schizophreniform disorder scoliosis sensorineural hearing loss silent myocardial infarction systemic lupus erythematosus thrombocytopenia tibial muscular dystrophy tooth agenesis type 2 diabetes mellitus

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