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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 **10476 - 10500** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0111113	nephronophthisis 2 Aliases: NPH2 NPHP2 infantile nephronophthisis 2	INVS	27130	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111310	familial febrile seizures 2 Aliases: FEB2 familial febrile convulsions 2	HCN2	610	Homo sapiens (human)	Alliance of Genome Resources
DOID:12377	spinal muscular atrophy	AR ATP7A ATP7B DPP6 HEXB KIF5B VAPB	1804 3074 367 3799 538 540 9217	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060745	Doyne honeycomb retinal dystrophy Aliases: DHRD Doyne honeycomb degeneration of retina	EFEMP1	2202	Homo sapiens (human)	Alliance of Genome Resources
DOID:10376	amblyopia Aliases: lazy eye	ERBB2 ERBB3 ERBB4 NRG1 PPARGC1A	10891 2064 2065 2066 3084	Homo sapiens (human)	Alliance of Genome Resources
DOID:3426	vestibular disease Aliases: Vertigo, vestibular disorder	KCNA10	3744	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111118	nephronophthisis 11 Aliases: NPHP11	TMEM67	91147	Homo sapiens (human)	Alliance of Genome Resources
DOID:4480	achondroplasia Aliases: Achondroplastic physique Chondrodystrophia osteosclerosis congenita	ACAN FGFR3 NPPC NPR2 PTHLH	176 2261 4880 4882 5744	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110678	congenital myasthenic syndrome 4A Aliases: CMS Ia1 CMS1A1 CMS4A congenital myasthenic syndrome 4A slow-channel congenital myasthenic syndrometype Ia1	CHRNE	1145	Homo sapiens (human)	Alliance of Genome Resources
DOID:10003	sensorineural hearing loss Aliases: High Frequency Hearing Loss High frequency deafness Perceptive deafness Perceptive hearing loss Perceptive hearing loss or deafness Sensorineural Deafness Sensory hearing loss central hearing loss high-frequency hearing loss	APOE ATP1A1 ATP1B1 CAT DIAPH1 DNAAF4 DNAH17 DNAH9 EDNRB EYA4 F2 F5 GATA3 HLA-B HLA-DRB1 IFNG IL2 ITGA2 MBL2 MYH14 MYH9 MYO15A MYO1A MYO6 MYO7A NGF PSMC3 PTGDS SCARB1 SLC12A2 SLC44A4 SLC7A14 SLITRK6 SOD2 STRC TECTA TMPRSS3 TNF WFS1 WHRN	161497 161582 1729 1770 1910 2070 2147 2153 25861 2625 3106 3123 3458 348 3558 3673 4153 4627 4640 4646 4647 476 4803 481 51168 5702 5730 57709 64699 6558 6648 7007 7124 7466 79784 80736 84189 847 8632 949	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111628	high myopia-sensorineural deafness syndrome Aliases: DFNMYP deafness and myopia deafness and myopia syndrome	SLITRK6	84189	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110310	hypertrophic cardiomyopathy 4 Aliases: CMH4 cardiomyopathy, familial hypertrophic, 4	MYBPC3	4607	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111207	autosomal dominant distal hereditary motor neuronopathy 3 Aliases: HMN IIB HMN2B distal hereditary motor neuronopathy type 2B distal hereditary motor neuropathy type IIB	HSPB1	3315	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112205	developmental and epileptic encephalopathy 69 Aliases: DEE69 early infantile epileptic encephalopathy 69	CACNA1E	777	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080467	developmental and epileptic encephalopathy 2 Aliases: DEE2 EIEE2 X-linked infantile spasm syndrome 2 early infantile epileptic encephalopathy 2	CDKL5	6792	Homo sapiens (human)	Alliance of Genome Resources
DOID:1558	angioedema Aliases: Angioneurotic oedema Quincke's edema angioneurotic edema giant urticaria	F12 SERPING1	2161 710	Homo sapiens (human)	Alliance of Genome Resources
DOID:14415	Legg-Calve-Perthes disease Aliases: Calve - Perthes' disease Coxa plana Juvenile osteochond-hip/pelvis Juvenile osteochondrosis of hip and/or pelvis Perthe's disease Perthes disease juvenile osteochondrosis of hip and pelvis osteochondrosis of Legg-Calve-Perthes pseudocoxalgia	COL2A1	1280	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060174	GABA aminotransferase deficiency Aliases: Gamma-amino butyric acid transaminase deficiency gamma-aminobutyric acid transaminase deficiency	ABAT	18	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080456	developmental and epileptic encephalopathy 46 Aliases: DEE46 early infantile epileptic encephalopathy 46	GRIN2D	2906	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080692	Noonan syndrome-like disorder with loose anagen hair 1	SHOC2	8036	Homo sapiens (human)	Alliance of Genome Resources
DOID:9643	babesiosis Aliases: Babesiasis Infection by babesia piroplasmosis	PECAM1	5175	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112147	retinitis pigmentosa 90 Aliases: RP90	IDH3A	3419	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080792	Treacher Collins syndrome 4	POLR1B	84172	Homo sapiens (human)	Alliance of Genome Resources
DOID:1312	focal segmental glomerulosclerosis Aliases: FGS FSGS focal glomerular sclerosis focal glomerulosclerosis	ACTN4 AGT AGTR1 AGTR2 ANGPT2 CASP9 CD2AP CMAS HSPB1 LIPC LPL MMP2 MMP9 MYO9A PIAS1 PPP3CA SERPINE1 SHH SRGAP1 TMEM63C TRPC6 VLDLR VWF	183 185 186 23607 285 3315 3990 4023 4313 4318 4649 5054 5530 55907 57156 57522 6469 7225 7436 7450 81 842 8554	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050965	spinocerebellar ataxia type 15 Aliases: spinocerebellar ataxia type 16	ITPR1	3708	Homo sapiens (human)	Alliance of Genome Resources

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