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GlyCosmos Diseases

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

Source	Last Updated
Alliance of Genome Resources	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **10151 - 10175** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
DOID:0060652	familial erythrocytosis 1 Aliases: ECYT1 autosomal dominant benign erythrocytosis primary familial and congenital polycythemia	Epor	13857	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13268	porphyria Aliases: Hematoporphyria Porphyrinopathy disorder of porphyrin and hem metabolism disorder of porphyrin metabolism	Epo	24335	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080290	familial erythrocytosis 5 Aliases: ECYT5	Epo	24335	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080290	familial erythrocytosis 5 Aliases: ECYT5	Epo	13856	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13268	porphyria Aliases: Hematoporphyria Porphyrinopathy disorder of porphyrin and hem metabolism disorder of porphyrin metabolism	Epo Gbe1	13856 74185	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:891	progressive myoclonus epilepsy Aliases: PME progressive myoclonic epilepsy	Epm2a Scarb2 Sema6b	12492 13853 20359	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3534	Lafora disease Aliases: Lafora Progressive Myoclonic Epilepsy Lafora's disease MYOCLONIC EPILEPSY OF LAFORA	Epm2a Gys1 Gys2 Nhlrc1	105193 13853 14936 232493	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:891	progressive myoclonus epilepsy Aliases: PME progressive myoclonic epilepsy	Epm2a Scarb2 Sema6b	114005 117106 84609	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:3534	Lafora disease Aliases: Lafora Progressive Myoclonic Epilepsy Lafora's disease MYOCLONIC EPILEPSY OF LAFORA	Epm2a Gys1 Gys2 Nhlrc1	114005 25623 364682 690987	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:10320	asbestosis	Ephx1 Tnc	13849 21923	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:705	Leber hereditary optic neuropathy Aliases: Leber's hereditary optic neuropathy Leber's optic atrophy	Ephx1 ND5 Sod2 Trp53	13849 17721 20656 22059	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:5022	aflatoxins-related hepatocellular carcinoma	Ephx1 Ggt1	13849 14598	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080001	bone disease	Ephx1 Fgfr1 Fgfr2 Fgfr4 Npr3 Pon1	13849 14182 14183 14186 18162 18979	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1579	respiratory system disease	Ephx1 Fcgr2b Fcgr3	13849 14130 14131	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081030	central conducting lymphatic anomaly Aliases: lymphatic malformation-7	Ephb4	13846	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:75	lymphatic system disease Aliases: Lymphangiopathy Lymphatic disease disease of lympoid system disorder of lymph node and lymphatics disorder of lymphatic system disorder of lymphoid system lymphatic disorder lympoid system disease	Ephb4 Lgmn	13846 19141	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110229	cataract 6 multiple types Aliases: CTRCT6	Epha2	13836	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060776	congenital diarrhea 5 with tufting enteropathy Aliases: DIAR5 congenital diarrhoea 5 with tufting enteropathy congenital familial intractable diarrhea with epithelial or epithelium abnormalities congenital familial intractable diarrhoea with epithelial or epithelium abnormalities congenital tufting enteropathy tufting enteropathy	Epcam	171577	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0070270	hereditary nonpolyposis colorectal cancer type 8 Aliases: HNPCC8	Epcam	171577	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060776	congenital diarrhea 5 with tufting enteropathy Aliases: DIAR5 congenital diarrhoea 5 with tufting enteropathy congenital familial intractable diarrhea with epithelial or epithelium abnormalities congenital familial intractable diarrhoea with epithelial or epithelium abnormalities congenital tufting enteropathy tufting enteropathy	Epcam	17075	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070270	hereditary nonpolyposis colorectal cancer type 8 Aliases: HNPCC8	Epcam	17075	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070041	autosomal dominant intellectual developmental disorder 11 Aliases: MRD11 autosomal dominant mental retardation 11 autosomal dominant non-syndromic intellectual disability 11	Epb41l1	59317	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0070041	autosomal dominant intellectual developmental disorder 11 Aliases: MRD11 autosomal dominant mental retardation 11 autosomal dominant non-syndromic intellectual disability 11	Epb41l1	13821	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1933	Rubinstein-Taybi syndrome Aliases: Broad Thumb-Hallux syndrome Rubinstein syndrome proximal chromosome 16p13.3 deletion syndrome	Ep300	328572	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110815	hereditary spastic paraplegia 64 Aliases: SPG64 autosomal recessive spastic paraplegia 64 autosomal recessive spastic paraplegia type 64	Entpd1	12495	Mus musculus (house mouse)	Alliance of Genome Resources

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