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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
DisGeNET	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **1776 - 1800** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism
DOID:0070120	Meckel syndrome 6 Aliases: MKS6 Meckel-Gruber syndrome, type 6	ALG8 ALG9 ARF4 PKD1 PKD2 UMOD	378 5310 5311 7369 79053 79796	Homo sapiens (human)
DOID:0070119	Meckel syndrome 5 Aliases: MKS5 Meckel-Gruber syndrome, type 5	ALG8 ALG9 ARF4 PKD1 PKD2 UMOD	378 5310 5311 7369 79053 79796	Homo sapiens (human)
DOID:0070118	Meckel syndrome 4 Aliases: MKS4 Meckel-Gruber syndrome, type 4	ALG8 ALG9 ARF4 PKD1 PKD2 UMOD	378 5310 5311 7369 79053 79796	Homo sapiens (human)
DOID:0070116	Meckel syndrome 2 Aliases: MKS2 Meckel-Gruber syndrome, type 2	ALG8 ALG9 ARF4 PKD1 PKD2 UMOD	378 5310 5311 7369 79053 79796	Homo sapiens (human)
DOID:0070117	Meckel syndrome 3 Aliases: MKS3 Meckel-Gruber syndrome, type 3	ALG8 ALG9 ARF4 PGD PKD1 PKD2 UMOD	378 5226 5310 5311 7369 79053 79796	Homo sapiens (human)
DOID:0080556	congenital disorder of glycosylation Id Aliases: congenital disorder of glycosylation 1d	Alg3	37754	Drosophila melanogaster (fruit fly)
DOID:14500	fucosidosis Aliases: A-fucosidase deficiency alpha fucosidase deficiency	Fuca	3772574	Drosophila melanogaster (fruit fly)
DOID:0111110	maturity-onset diabetes of the young type 13 Aliases: MODY type 13 MODY13	KCNJ11	3767	Homo sapiens (human)
DOID:0110657	congenital myasthenic syndrome 8 Aliases: CMS8 congenital myasthenic syndrome 8 with pre- and postsynaptic defects congenital myasthenic syndrome due to agrin deficiency	AGRN	375790	Homo sapiens (human)
DOID:0110668	congenital myasthenic syndrome 10 Aliases: CMS10 LGM congenital muscular dystrophy merosin-positive familial limb-girdle myasthenia	AGRN	375790	Homo sapiens (human)
DOID:1168	familial hyperlipidemia Aliases: familial hyperlipoproteinemia hyperlipemia	Sdc	37447	Drosophila melanogaster (fruit fly)
DOID:8567	Hodgkin's lymphoma Aliases: HL Hodgkin disease Hodgkin lymphoma Hodgkin's sarcoma Hodgkins lymphoma stage I Subdiaphragmatic Hodgkin Lymphoma stage II Subdiaphragmatic Hodgkin Lymphoma	Sdc	37447	Drosophila melanogaster (fruit fly)
DOID:576	proteinuria	Sdc	37447	Drosophila melanogaster (fruit fly)
DOID:674	cleft palate Aliases: Palatoschisis	Sdc	37447	Drosophila melanogaster (fruit fly)
DOID:9296	cleft lip Aliases: Labium leporinum cheiloschisis cleft lip, unilateral, complete complete unilateral cleft lip hare lip	Sdc rt	37447 39297	Drosophila melanogaster (fruit fly)
DOID:0050579	glycogen storage disease XV Aliases: Glycogen storage disease 15 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency glycogen storage disease type XV	Gyg	37419	Drosophila melanogaster (fruit fly)
DOID:0112233	lissencephaly 8 Aliases: LIS8	Tmtc3	37401	Drosophila melanogaster (fruit fly)
DOID:0111241	congenital muscular dystrophy-dystroglycanopathy type A5 Aliases: MDDGA5 Walker-Warburg syndrome or muscle-eye-brain disease, FKRP-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5	CG15651	37375	Drosophila melanogaster (fruit fly)
DOID:0110299	autosomal recessive limb-girdle muscular dystrophy type 2I Aliases: LGMD2I Limb-girdle muscular dystrophy due to FKRP deficiency MDDGC5 muscular dystrophy limb-girdle type 2I muscular dystrophy-dystroglycanopathy (limb-girdle) type C 5 muscular dystrophy-dystroglycanopathy limb-girdle FRKP-related	CG15651	37375	Drosophila melanogaster (fruit fly)
DOID:11724	limb-girdle muscular dystrophy Aliases: Erb's muscular dystrophy Leyden-Mbius muscular dystrophy limb girdle muscular dystrophy	CG15651	37375	Drosophila melanogaster (fruit fly)
DOID:0110635	muscular dystrophy-dystroglycanopathy type B5 Aliases: FKRP-related congenital muscular dystrophy MDC1C MDDGB5 congenital muscular dystrophy 1C muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5 muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5	CG15651	37375	Drosophila melanogaster (fruit fly)
DOID:10534	stomach cancer Aliases: gastric cancer gastric neoplasm	rgn.L	373659	Xenopus laevis (African clawed frog)
DOID:2747	glycogen storage disease Aliases: glycogenosis	gyg1a gyg1b gys2	373082 406831 415152	Danio rerio (zebrafish)
DOID:3534	Lafora disease Aliases: Lafora Progressive Myoclonic Epilepsy Lafora's disease MYOCLONIC EPILEPSY OF LAFORA	gys1 gys2	373082 394155	Danio rerio (zebrafish)
DOID:0080547	metabolic dysfunction-associated steatohepatitis Aliases: MASH NASH non-alcoholic steatohepatitis nonalcoholic steatohepatitis	Pepck1	37131	Drosophila melanogaster (fruit fly)

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