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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 **4701 - 4725** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:12935	alcoholic cardiomyopathy Aliases: Alcohol-induced heart muscle disease Dilated cardiomyopathy secondary to alcohol	Pparg Rxra Slc25a4	11739 19016 20181	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:987	alopecia	Bdnf Dsg4 Esr2 H2-D1 H2-K1 H2-M2 H2-Q10 H2-Q1 H2-Q2 H2-Q4 H2-Q6 H2-Q7 H2-T3 Prss8	110557 12064 13983 14964 14972 14990 15006 15007 15013 15015 15018 15043 16769 76560	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060791	hypomyelinating leukodystrophy 9 Aliases: HLD9 RARS-related autosomal recessive hypomyelinating leukodystrophy	Rars1	104458	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050833	orotic aciduria	Cad Umps	22247 69719	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110818	hereditary spastic paraplegia 73 Aliases: SPG73 autosomal dominant spastic paraplegia 73 autosomal dominant spastic paraplegia type 73	Cpt1c	78070	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070384	developmental and epileptic encephalopathy 98 Aliases: DEE98 early infantile epileptic encephalopathy 98	Atp1a2	98660	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050715	methylmalonic aciduria and homocystinuria type cblC Aliases: Cobalamin C deficiency MAHCC	Prdx1	18477	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080527	bronchiectasis 2	Scnn1a	20276	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9775	diastolic heart failure	Ace Lepr	11421 16847	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:331	central nervous system disease	Gria1 Gria2 Gria3 Gria4 Hgf Irf2bp2 Irf2bpl Smarca5 Tmem63a Tmem63b	14799 14800 14802 15234 208795 224807 238330 270110 53623 93762	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090056	dystonia 12	Atp1a3 Pla2g6	232975 53357	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060019	coronin-1A deficiency	Coro1a	12721	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1389	polyneuropathy	Cst3 Fcgr4 H2-Eb1 Sod2 Sod3	13010 14969 20656 20657 246256	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:848	arthritis Aliases: Inflammatory disorder of joint	Cd40 Cnr2 Fcgr4 Gc H2-Aa H2-Ab1 Il23r Tlr4	12802 14473 14960 14961 209590 21898 21939 246256	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080205	CAKUT Aliases: Congenital anomalies of the kidney and urinary tract Renal or urinary tract malformation	Bmp4 Hspa1a Lifr	12159 16880 193740	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110425	dilated cardiomyopathy 1A Aliases: CDCD1 dilated cardiomyopathy with conduction defect 1 familial dilated cardiomyopathy with conduction defect due to LMNA mutation	Dot1l Lmna Lmnb1 Lmnb2	16905 16906 16907 208266	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110859	polycystic kidney disease 2 Aliases: Apkd2 Pkd2 Polycystic Kidney Disease, Adult, Type II	Pkd2 Pkd2l1 Pkd2l2	18764 329064 53871	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14764	Larsen syndrome Aliases: dominant larsen syndrome	Flnb	286940	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070201	Miyoshi muscular dystrophy 3 Aliases: MMD3 Miyoshi myopathy 3	Ano5	233246	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081212	autosomal recessive intellectual developmental disorder 48	Slc6a17	229706	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050717	methylmalonic aciduria and homocystinuria type cblF Aliases: Cobalamin F deficiency MAHCF	Lmbrd1	68421	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080470	developmental and epileptic encephalopathy 36 Aliases: congenital disorder of glycosylation, type Is early infantile epileptic encephalopathy 36	Alg13	67574	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110927	nemaline myopathy 3 Aliases: NEM3 congenital myopathy 2A nemaline myopathy 3, autosomal dominant or recessive	Acta1	11459	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070114	Niemann-Pick disease type C2 Aliases: NPC2	Npc2	67963	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112214	developmental and epileptic encephalopathy 78 Aliases: DEE78 early infantile epileptic encephalopathy 78	Gabra2	14395	Mus musculus (house mouse)	Alliance of Genome Resources

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