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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 **7026 - 7050** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
DOID:0110367	retinitis pigmentosa 38 Aliases: RP38	Mertk	65037	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110367	retinitis pigmentosa 38 Aliases: RP38	Mertk	17289	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060234	Carpenter syndrome Aliases: acrocephalopolysyndactyly type II	Megf8 Rab23	19335 269878	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081345	congenital myopathy 10B	Megf10	70417	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111333	early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome Aliases: EMARDD Myopathy, areflexia, respiratory distress, and dysphagia, early-onset congenital myopathy 10A	Megf10	70417	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070050	neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language Aliases: MRD20 autosomal dominant mental retardation 20 mental retardation, autosomal dominant 20	Mef2c	17260	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060413	chromosome 22q11.2 deletion syndrome, distal Aliases: DiGeorge syndrome and Velocardiofacial syndrome distal 22q11.2 microdeletion syndrome	Med15 Mrpl40 Pi4ka Snap29	18100 224020 67474 94112	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060799	syndromic X-linked intellectual disability Lubs type Aliases: Lubs X-linked mental retardation syndrome MECP2 duplication syndrome MRXSL X-linked intellectual disability-hypotonia-recurrent Infections syndrome mental retardation, X-linked, syndromic, Lubs type mental retardation, X-linked, with recurrent respiratory infections	Mecp2	29386	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060827	X-linked intellectual disability-psychosis-macroorchidism syndrome Aliases: Lindsay-Burn syndrome MRXS13 PPM-X X-linked mental retardation 79 X-linked mental retardation with spasticity mental retardation with psychosis, pyramidal signs, and macroorchidism mental retardation, X-linked, syndromic 13	Mecp2	29386	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:1206	Rett syndrome Aliases: Rett's disorder cerebroatrophic hyperammonemia	Mecp2	29386	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111932	severe congenital encephalopathy due to MECP2 mutation Aliases: neonatal severe encephalopathy due to MECP2 mutations severe neonatal-onset encephalopathy with microcephaly	Mecp2	29386	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060799	syndromic X-linked intellectual disability Lubs type Aliases: Lubs X-linked mental retardation syndrome MECP2 duplication syndrome MRXSL X-linked intellectual disability-hypotonia-recurrent Infections syndrome mental retardation, X-linked, syndromic, Lubs type mental retardation, X-linked, with recurrent respiratory infections	Mecp2	17257	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060827	X-linked intellectual disability-psychosis-macroorchidism syndrome Aliases: Lindsay-Burn syndrome MRXS13 PPM-X X-linked mental retardation 79 X-linked mental retardation with spasticity mental retardation with psychosis, pyramidal signs, and macroorchidism mental retardation, X-linked, syndromic 13	Mecp2	17257	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111932	severe congenital encephalopathy due to MECP2 mutation Aliases: neonatal severe encephalopathy due to MECP2 mutations severe neonatal-onset encephalopathy with microcephaly	Mecp2	17257	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070229	intrahepatic cholestasis of pregnancy 3 Aliases: ICP3 pregnancy related cholestasis 3	Mdr49 Mdr65	36428 38726	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060750	familial temporal lobe epilepsy 3 Aliases: FMTLE familial mesial temporal lobe epilepsy	Mdr49 Mdr65	36428 38726	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080797	nasal type extranodal NK/T-cell lymphoma	Mdr49 Mdr65	36428 38726	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:635	acquired immunodeficiency syndrome Aliases: AIDS acquired Immune deficiency	Mdr49 Mdr65	36428 38726	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:1949	cholecystitis Aliases: acute and chronic cholecystitis acute cholecystitis acute on chronic cholecystitis chronic cholecystitis	Mdr49 Mdr65	36428 38726	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060643	primary sclerosing cholangitis	Mdr49 Mdr65	36428 38726	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:2917	cryoglobulinemia Aliases: Cryoimmunoglobulinaemia	Mdr49 Mdr65	36428 38726	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110893	inflammatory bowel disease 13 Aliases: IBD13	Mdr49 Mdr65	36428 38726	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0070223	progressive familial intrahepatic cholestasis 3 Aliases: MDR3 deficiency PFIC3 progressive familial intrahepatic cholestasis with elevated serum gama-glutamyltransferase	Mdr49 Mdr65	36428 38726	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:3008	invasive ductal carcinoma Aliases: Infiltrating ductal carcinoma of breast Invasive ductal carcinoma, NST ductal adenocarcinoma	Mdr49 Mdr65 shf	31617 36428 38726	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:4481	allergic rhinitis Aliases: Non-seasonal allergic rhinitis Perenial allergic rhinitis atopic rhinitis hay fever pollenosis seasonal allergic rhinitis	Mdr49 Mdr65 TkR99D Tl mys	36428 38726 43222 43551 44885	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources

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