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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 **7751 - 7775** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0050437	Danon disease Aliases: ANTOPOL DISEASE PSEUDOGLYCOGENOSIS II	LAMP2	3920	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111756	Leber hereditary optic neuropathy with demyelinating disease of CNS	MECR	51102	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070462	mitochondrial complex V (ATP synthase) deficiency nuclear type 4B Aliases: MC5DN4B	ATP5F1A	498	Homo sapiens (human)	Alliance of Genome Resources
DOID:9667	placental abruption Aliases: abruptio placenta abruptio placentae	PROC	5624	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050473	Alstrom syndrome	ALMS1	7840	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111086	Fanconi anemia complementation group G Aliases: FANCG	FANCG	2189	Homo sapiens (human)	Alliance of Genome Resources
DOID:14501	Sjogren-Larsson syndrome Aliases: FALDH deficiency SLS Sjogren Larsson syndrome Sjogren-Larsson's syndrome fatty acid alcohol oxidoreductase deficiency	ACSL3 ACSL4 ALDH3A1 ALDH3A2 ALDH3B1 ALDH3B2	218 2181 2182 221 222 224	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060575	3MC syndrome 1	MASP1	5648	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050676	Birt-Hogg-Dube syndrome	FLCN PRDM10	201163 56980	Homo sapiens (human)	Alliance of Genome Resources
DOID:10211	cholelithiasis	APOE CCKAR CFTR CYP17A1 UGT1A1	1080 1586 348 54658 886	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110460	dilated cardiomyopathy 2A Aliases: CMD2A	TNNI3	7137	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070135	autosomal recessive cutis laxa type IA Aliases: ARCL1A	FBLN5	10516	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080176	meningococcal meningitis	CD46 MARCO MMP13 MMP9 NOD2 TLR2 TLR4	4179 4318 4322 64127 7097 7099 8685	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080489	GM1 gangliosidosis type 3 Aliases: adult-onset GM1 gangliosidosis	GLB1	2720	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0050984	spinocerebellar ataxia type 37	DAB1	1600	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111010	cone-rod dystrophy 5 Aliases: CORD5	PITPNM3	83394	Homo sapiens (human)	Alliance of Genome Resources
DOID:13949	interstitial cystitis Aliases: ulcerative cystitis	ADRB2 CSF1 CSF2 ERBB2 ERBB4 HIF1A MAPK14 MKI67 MTOR NGF NOS2 NRG1 VCAM1 VEGFA	1432 1435 1437 154 2064 2066 2475 3084 3091 4288 4803 4843 7412 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111680	essential fructosuria Aliases: fructokinase deficiency hepatic fructokinase deficiency ketohexokinase deficiency	KHK	3795	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112363	spondylocostal dysostosis 5 Aliases: SCDO5	TBX6	6911	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081230	autosomal recessive intellectual developmental disorder 69	ZBTB11	27107	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050630	Aland Island eye disease Aliases: FORSIUS-ERIKSSON TYPE OCULAR ALBINISM Forsius-Eriksson syndrome	CACNA1F	778	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080200	bilateral renal aplasia	NPNT	255743	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060937	dystonia 30 Aliases: DYT30	VPS16	64601	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070411	autosomal recessive spinocerebellar ataxia 30 Aliases: SCAR30	PITRM1	10531	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070355	overactive bladder syndrome Aliases: OAB overactive bladder urge syndrome urgency-frequency syndrome	BDKRB1 CD40LG NGF NRG1 TRPA1	3084 4803 623 8989 959	Homo sapiens (human)	Alliance of Genome Resources

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