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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
DisGeNET	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **1776 - 1800** of **7942** in total

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Disease ID	Disease Name ▲	Gene Symbol	Gene ID	Organism
DOID:0070138	autosomal recessive cutis laxa type IIIB Aliases: ARCL3B De Barsy syndrome B	ATP6AP1 ATP6V0A2 B3GALT6 B3GAT3 B4GALT7 CAT CHST3 DCN DHCR7 ECHS1 ENOSF1 MAN1B1 PARP1 PIGL PLCG2 PMM2 PTDSS1 SLC2A10 SRD5A3	11253 11285 126792 142 1634 1717 1892 23545 26229 5336 537 5373 55556 79644 81031 847 9469 9487 9791	Homo sapiens (human)
DOID:0111064	autosomal recessive distal hereditary motor neuronopathy 1 Aliases: DSMA1 SIANRF SMARD1 autosomal recessive distal spinal muscular atrophy 1 autosomal recessive spinal muscular atrophy with respiratory distress dHMN6 diaphragmatic spinal muscular atrophy distal hereditary motor neuropathy type 6 distal spinal muscular atrophy 1 distal-HMN type 6 severe infantile axonal neuropathy with respiratory failure type 1 spinal muscular atrophy with respiratory distress type 1	ACHE APRT ASAH1 CAT CLEC10A FCN2 FIG4 FUT4 GFRA1 HEXB HK2 NT5E OGA PNPLA6 SARM1 TIGAR TMED9	10462 10724 10908 2220 23098 2526 2674 3074 3099 353 427 43 4907 54732 57103 847 9896	Homo sapiens (human)
DOID:0081427	autosomal recessive distal hereditary motor neuronopathy 8 Aliases: SORDD sorbitol dehydrogenase deficiency with peripheral neuropathy	Sord	24788	Rattus norvegicus (Norway rat)
DOID:0081427	autosomal recessive distal hereditary motor neuronopathy 8 Aliases: SORDD sorbitol dehydrogenase deficiency with peripheral neuropathy	Sord	20322	Mus musculus (house mouse)
DOID:0081427	autosomal recessive distal hereditary motor neuronopathy 8 Aliases: SORDD sorbitol dehydrogenase deficiency with peripheral neuropathy	SOR1 SOR2 XYL2	850759 851351 853624	Saccharomyces cerevisiae S288C
DOID:0081427	autosomal recessive distal hereditary motor neuronopathy 8 Aliases: SORDD sorbitol dehydrogenase deficiency with peripheral neuropathy	SORD	6652	Homo sapiens (human)
DOID:0090105	autosomal recessive hypercholesterolemia Aliases: ARH ARH1 ARH2 FHCB1 FHCB2 autosomal recessive hypercholesterolemia 1 autosomal recessive hypercholesterolemia 2 familial autosomal recessive hypercholesterolemia	ADH1A ADPRH ADPRS CD14 LPL MPI	124 141 4023 4351 54936 929	Homo sapiens (human)
DOID:0050949	autosomal recessive hypophosphatemic rickets	ENPP1 GALNT3 IDUA	2591 3425 5167	Homo sapiens (human)
DOID:0081177	autosomal recessive intellectual developmental disorder 1	teq	39048	Drosophila melanogaster (fruit fly)
DOID:0081180	autosomal recessive intellectual developmental disorder 12	St3gal3	20441	Mus musculus (house mouse)
DOID:0081180	autosomal recessive intellectual developmental disorder 12	ST3GAL3	6487	Homo sapiens (human)
DOID:0081180	autosomal recessive intellectual developmental disorder 12	LOC108715547	108715547	Xenopus laevis (African clawed frog)
DOID:0081180	autosomal recessive intellectual developmental disorder 12	st3gal3	402789	Xenopus tropicalis (tropical clawed frog)
DOID:0081180	autosomal recessive intellectual developmental disorder 12	st3gal3a st3gal3b	393326 407659	Danio rerio (zebrafish)
DOID:0081180	autosomal recessive intellectual developmental disorder 12	St3gal3	64445	Rattus norvegicus (Norway rat)
DOID:0081188	autosomal recessive intellectual developmental disorder 14	TECR	9524	Homo sapiens (human)
DOID:0081210	autosomal recessive intellectual developmental disorder 46	Ndst1	29633	Rattus norvegicus (Norway rat)
DOID:0081210	autosomal recessive intellectual developmental disorder 46	ndst1.L ndst1.S	108710821 443855	Xenopus laevis (African clawed frog)
DOID:0081210	autosomal recessive intellectual developmental disorder 46	ndst1	496577	Xenopus tropicalis (tropical clawed frog)
DOID:0081210	autosomal recessive intellectual developmental disorder 46	sfl	38736	Drosophila melanogaster (fruit fly)
DOID:0081210	autosomal recessive intellectual developmental disorder 46	Ndst1	15531	Mus musculus (house mouse)
DOID:0081210	autosomal recessive intellectual developmental disorder 46	ndst1a ndst1b	100329944 570459	Danio rerio (zebrafish)
DOID:0081210	autosomal recessive intellectual developmental disorder 46	NDST1	3340	Homo sapiens (human)
DOID:0081210	autosomal recessive intellectual developmental disorder 46	hst-1	177675	Caenorhabditis elegans
DOID:0081215	autosomal recessive intellectual developmental disorder 52	LMAN2L	81562	Homo sapiens (human)

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