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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	January 28, 2025
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **4351 - 4375** of **5716** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0110403	retinitis pigmentosa 13 Aliases: RP13	Prpf8	192159	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050990	episodic ataxia type 2	Cacna1a	12286	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081242	autoimmune interstitial lung, joint, and kidney disease Aliases: Autoimmune interstitial lung disease-arthritis syndrome COPA syndrome	Copa	12847	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:6688	autoimmune lymphoproliferative syndrome Aliases: ALPS Canale-Smith syndrome	Fas Fasl	14102 14103	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060227	Adams-Oliver syndrome Aliases: Adams Oliver syndrome	Dll4	54485	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12799	mucopolysaccharidosis II Aliases: Hunter syndrome Hunter's syndrome MPS II - Hunter syndrome Mucopolysaccharidosis, MPS-II deficiency of iduronate-2-sulphatase	Ids	15931	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11721	glycogen storage disease VII Aliases: Glycogen storage disease 7 Glycogen storage disease, type VII Muscle phosphofructokinase deficiency glycogen storage disease type VII phosphofructokinase myopathy	Pfkm	18642	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060337	CEDNIK syndrome Aliases: cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome	Snap29	67474	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110218	Brugada syndrome 1 Aliases: BRGDA1	Scn5a	20271	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4154	dentinogenesis imperfecta	Dspp	666279	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14365	systemic primary carnitine deficiency disease Aliases: carnitine transporter deficiency carnitine uptake defect deficiency of plasma-membrane carnitine transporter primary carnitine deficiency renal carnitine transport defect	Slc22a5	20520	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090100	ocular albinism with sensorineural deafness Aliases: WS2-OA autosomal recessive Waardenburg syndrome type 2 with ocular albinism digenic Waardenburg syndrome/albinism digenic Waardenburg syndrome/ocular albinism	Mitf	17342	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060170	generalized epilepsy with febrile seizures plus Aliases: GEFS+	Gabrg2 Scn1a Scn1b	14406 20265 20266	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050458	juvenile myelomonocytic leukemia	Flt3 Kras Nf1 Ptpn11	14255 16653 18015 19247	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2861	congenital nonspherocytic hemolytic anemia Aliases: HNSHA congenital nonspherocytic hemolytic anaemia hereditary nonspherocytic hemolytic anaemia hereditary nonspherocytic hemolytic anemia	Gpi1	14751	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111136	congenital generalized lipodystrophy type 2 Aliases: Berardinelli-Seip congenital lipodystrophy type 2 Berardinelli-Seip syndrome Brunzell syndrome BSCL2-related CGL2 congenital lipoatrophic diabetes total lipodystrophy and acromegaloid gigantism	Bscl2 Pparg	14705 19016	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111742	cerebellar ataxia type 42 Aliases: SCA42	Cacna1g	12291	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4079	heart valve disease Aliases: Valvular heart disease	Galnt1 Tnf	14423 21926	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111041	glycogen storage disease IXb Aliases: GSD IXb GSD due to liver and muscle phosphorylase kinase deficiency GSD type 9B GSD type IXb GSD9B glycogen storage disease type 9B glycogen storage disease type IXb glycogenosis due to liver and muscle phosphorylase kinase deficiency glycogenosis type 9B glycogenosis type IXb	Phkb	102093	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060581	Noonan syndrome 3 Aliases: NS3	Kras	16653	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050548	hereditary sensory neuropathy Aliases: familial dysautonomia, type II hereditary sensory and autonomic neuropathy	Dst Ntrk1 Scn11a	13518 18211 24046	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080354	Phelan-McDermid syndrome Aliases: 22q13.3 deletion syndrome monosomy 22q13 syndrome	Shank3 Tcf20	21411 58234	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9884	muscular dystrophy	Fkrp	243853	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9273	citrullinemia Aliases: ASS deficiency deficiency of citrulline-aspartate ligase	Ass1	11898	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060556	Kufor-Rakeb syndrome Aliases: autosomal recessive Parkinson disease 9 autosomal recessive juvenile onset Parkinson disease 9	Atp13a2	74772	Mus musculus (house mouse)	Alliance of Genome Resources

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