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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 **14776 - 14800** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:4914	esophagus adenocarcinoma Aliases: Oesophageal adenocarcinoma	ABL1 ARID1A CDC5L CTSB CYP19A1 CYP24A1 FAS FOXA1 FOXP1 GHRL GPX3 GRB7 KDR MMP12 MMP14 MMP1 MMP3 MMP9 NOS3 PTGS1 PTGS2 SMO SOD2 TNFRSF10A	1508 1588 1591 25 27086 2878 2886 3169 355 3791 4312 4314 4318 4321 4323 4846 51738 5742 5743 6608 6648 8289 8797 988	Homo sapiens (human)	Alliance of Genome Resources
DOID:9505	cannabis abuse Aliases: marijuana abuse	Bche Comt Drd4 Ngf	12038 12846 13491 18049	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060470	salt and pepper syndrome Aliases: salt & pepper syndrome salt-and-pepper syndrome	ST3GAL5	8869	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0060558	lethal congenital contracture syndrome	Adcy6 Cntnap1 Gldn	25289 315675 84008	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080855	Parkinsonism	ABAT ABCC8 ABCC9 BAD BDNF CASP9 CNR1 COMT COX1 CSF2 CX3CL1 DRD2 DRD3 EGFR ENO2 ESR1 GBA1 GDNF GFRA1 GFRA2 GRM8 GSK3A HSPA1A HSPA9 KCNJ11 LRRK2 MAPT MMP3 NDUFS3 NFKB2 NGF NGFR NOS1 NTRK1 PARK7 PINK1 PTGS2 RELA RET SHH SLC11A2 SLC17A8 SLC6A3 SLC6A4 SRC TNFRSF1B VDAC1	10060 11315 120892 1268 1312 1437 18 1813 1814 1956 2026 2099 246213 2629 2668 2674 2675 2918 2931 3303 3313 3767 4137 4314 4512 4722 4791 4803 4804 4842 4891 4914 572 5743 5970 5979 627 6376 6469 65018 6531 6532 6714 6833 7133 7416 842	Homo sapiens (human)	Alliance of Genome Resources
DOID:4480	achondroplasia Aliases: Achondroplastic physique Chondrodystrophia osteosclerosis congenita	Acan Npr2	11595 230103	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3234	central nervous system lymphoma Aliases: Microglioma primary CNS lymphoma	Il10	25325	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0070478	diphthamide deficiency syndrome 2 Aliases: DEDSSH2 developmental delay with short stature, dysmorphic facial features, and sparse hair 2	Dph2	67728	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110158	Charcot-Marie-Tooth disease type 2I Aliases: CMT2I Charcot-Marie-Tooth neuropathy type 2I	MPZ	4359	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080738	Ehlers-Danlos syndrome spondylodysplastic type 1	beta4GalT7	42991	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110366	retinitis pigmentosa 33 Aliases: RP33	st3gal3	402789	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0112056	X-linked intellectual disability-short stature-overweight syndrome Aliases: MRX12 MRX35 X-linked mental retardation 12 X-linked mental retardation 35	Thoc2	331401	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11446	sciatic neuropathy	W01F3.2 cri-2 drag-1 eat-4 gpx-3 gpx-5 hyl-2 kpc-1 lmp-1 nlg-1 ver-1 vglu-2 vglu-3 zmp-2 zmp-4	173051 175182 175383 176291 176441 176442 179197 179991 180351 180743 180912 181178 181484 182513 190602	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0060058	lymphoma Aliases: lymphoid cancer	ATM CHD4 MALT1 PAFAH1B2 RELA	10892 1108 472 5049 5970	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110666	congenital myasthenic syndrome 3A Aliases: CMS3A congenital myasthenic syndrome 3A, slow-channel	unc-63	172150	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0111183	familial hemiplegic migraine 3 Aliases: FHM3 MHP3	Scn1a	20265	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050545	visceral heterotaxy Aliases: heterotaxia situs ambiguus	ACVR2B BICC1 CC2D1A CC2D2A CCDC39 CFAP53 CFC1 CFC1B DNAAF3 DNAH11 DNAH5 DRC1 FOXH1 GDF1 IFT74 MEGF8 MMP21 NODAL ODAD2 OSBPL1A PCSK5 PHKA2 PKD1L1 PSME4 SLIT2 TBC1D32 TMEM67	114876 118856 168507 1767 1954 220136 221322 23198 2657 339829 352909 4838 5125 5256 54862 55130 55997 57545 653275 80114 80173 8701 8928 91147 92749 93 9353	Homo sapiens (human)	Alliance of Genome Resources
DOID:8778	Crohn's disease Aliases: Crohn disease Crohn's disease of colon Crohn's disease of large bowel Granulomatous Colitis Pediatric Crohn's disease	kdr pon1 ugt1a7 ugt1ab vegfaa	100384891 30682 406731 447803 554230	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0110786	hereditary spastic paraplegia 35 Aliases: FAHN SPG35 autosomal recessive spastic paraplegia 35 autosomal recessive spastic paraplegia type 35 fatty acid hydroxylase-associated neurodegeneration leukodystrophy, dysmyelinating and spastic paraparesis with or without dystonia	FA2H	79152	Homo sapiens (human)	Alliance of Genome Resources
DOID:417	autoimmune disease Aliases: autoimmune hypersensitivity disease hypersensitivity reaction type II disease	Ahnak Cd200 Gpr132 H2-Aa H2-Ab1 H2-Eb1 Idh1 Siae	14960 14961 14969 15926 17470 22619 56696 66395	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080865	primary ovarian insufficiency 8	STAG3	10734	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081141	agammaglobulinemia 9	SLC39A7	7922	Homo sapiens (human)	Alliance of Genome Resources
DOID:14502	cholesterol ester storage disease Aliases: CESD partial LAL deficiency partial LIPA deficiency partial cholesterol ester hydrolase deficiency partial lysosomal acid lipase deficiency	lipl-1 lipl-2 lipl-3 lipl-4 lipl-5	178563 178572 179046 179771 185840	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0110220	Brugada syndrome 3 Aliases: BRGDA3	Ca-alpha1D	34950	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110184	Charcot-Marie-Tooth disease type 4J Aliases: CMT4J autosomal recessive Charcot-Marie-Tooth disease type 4J	FIG4	9896	Homo sapiens (human)	Alliance of Genome Resources

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