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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 **8851 - 8875** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:0110555	autosomal dominant nonsyndromic deafness 25 Aliases: DFNA25 autosomal dominant deafness 25	Slc17a8	266767	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080572	congenital disorder of glycosylation Iw Aliases: congenital disorder of glycosylation 1w	stt3a stt3b	266797 323918	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:3049	Churg-Strauss syndrome Aliases: Allergic Granulomatous Angiitis Allergic granulomatosis angiitis Churg-Strauss vasculitis	GDNF GFRA1 IL5 STAT3 VTN	2668 2674 3567 6774 7448	Homo sapiens (human)	Alliance of Genome Resources
DOID:440	neuromuscular disease	GDNF GPI NEMF	2668 2821 9147	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060161	Kennedy's disease Aliases: Kennedy disease SBMA Spinobulbar Muscular Atrophy X-Linked Bulbo-Spinal Atrophy X-linked Spinal and Bulbar Muscular Atrophy spinal bulbar muscular atrophy	AR GDNF	2668 367	Homo sapiens (human)	Alliance of Genome Resources
DOID:417	autoimmune disease Aliases: autoimmune hypersensitivity disease hypersensitivity reaction type II disease	parp-1	266823	Caenorhabditis elegans	Alliance of Genome Resources
DOID:848	arthritis Aliases: Inflammatory disorder of joint	parp-1	266823	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0080453	developmental and epileptic encephalopathy 25 Aliases: DEE25 developmental and epileptic encephalopathy 25, with amelogenesis imperfecta early infantile epileptic encephalopathy 25	Slc13a5	266998	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111668	Kohlschutter-Tonz syndrome Aliases: KTZS Kohlschutter's syndrome amelocerebrohypohidrotic syndrome epilepsy and yellow teeth epilepsy dementia amelogenesis imperfecta epilepsy-dementia-amelogenesis imperfecta syndrome	Slc13a5	266998	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050667	alcohol-related neurodevelopmental disorder Aliases: ARND static encephalopathy	Slc13a5	266998	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:4252	Alexander disease Aliases: Alexander's disease	GFAP	2670	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111216	autosomal recessive centronuclear myopathy Aliases: AR-CNM	GFER	2671	Homo sapiens (human)	Alliance of Genome Resources
DOID:1440	Machado-Joseph disease Aliases: Azorean disease MJD SCA3 spinocerebellar ataxia 3 spinocerebellar ataxia type 3	ATXN3 GFPT1 GFPT2 SLC18A2	2673 4287 6571 9945	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110660	congenital myasthenic syndrome 12 Aliases: CMS12 congenital myasthenia 12 with tubular aggregates	GFPT1	2673	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:14766	renal agenesis Aliases: hereditary renal aplasia hereditary urogenital adysplasia renal adysplasia renal aplasia	GFRA1 GREB1L ITGA8	2674 80000 8516	Homo sapiens (human)	Alliance of Genome Resources
DOID:1920	hyperuricemia Aliases: Blood urate raized uricacidemia	ABCG2 APOE HAVCR1 INS LCN2 SLC22A2 SLC2A9 STAT3	26762 348 3630 3934 56606 6582 6774 9429	Homo sapiens (human)	Alliance of Genome Resources
DOID:12556	acute kidney tubular necrosis Aliases: ATN - acute tubular necrosis acute renal Failure with tubular necrosis acute renal failure with lesion of tubular necrosis acute tubular necrosis acute tubule necrosis	BMP7 HAVCR1 NOG TEK	26762 655 7010 9241	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080653	urolithiasis	GGCX PLAU	2677 5328	Homo sapiens (human)	Alliance of Genome Resources
DOID:11249	vitamin K deficiency bleeding Aliases: deficiency of vitamin K vitamin K deficiency vitamin K deficiency hemorrhagic disease	GGCX	2677	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112173	combined deficiency of vitamin K-dependent clotting factors 1 Aliases: VKCFD1	GGCX	2677	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080546	non-alcoholic fatty liver Aliases: NAFL nonalcoholic fatty liver	CCL5 GGT1 HTR2A HTR2B NGF	2678 3356 3357 4803 6352	Homo sapiens (human)	Alliance of Genome Resources
DOID:5022	aflatoxins-related hepatocellular carcinoma	GGT1 GGTLC1 GGTLC2	2678 91227 92086	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111257	gamma-glutamyl transpeptidase deficiency Aliases: GGT deficiency GGT1 deficiency GTG deficiency gamma-glutamyl transferase deficiency glutathionuria	GGT1	2678	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050791	persistent Mullerian duct syndrome Aliases: persistent Muellerian duct syndrome	AMH AMHR2	268 269	Homo sapiens (human)	Alliance of Genome Resources
DOID:28	endocrine system disease	B4GALT1 PCSK1	2683 5122	Homo sapiens (human)	Alliance of Genome Resources

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