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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 **13351 - 13375** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0080226	autosomal dominant intellectual developmental disorder 56 Aliases: autosomal dominant intellectual developmental disorder-56 autosomal dominant mental retardation 56	CLTC	1213	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080257	autosomal recessive congenital ichthyosis 13	SDR9C7	121214	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060419	chromosome 3q29 microdeletion syndrome Aliases: 3q subtelomere deletion syndrome 3q29 microdeletion syndrome 3q29 recurrent deletion 3qter deletion	BDH1 DLG1 HSD17B6 LTF MELTF SDR9C7 SLC51A TF	121214 1739 200931 4057 4241 622 7018 8630	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112150	X-linked spondyloepimetaphyseal dysplasia Aliases: SEMD X-linked SEMDX	Bgn	12111	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111861	Meester-Loeys syndrome Aliases: MRLS	Bgn	12111	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2378	relapsing-remitting multiple sclerosis Aliases: RRMS Relapsing-remitting MS	Cd36 Cd80 Cspg4 Ctss Fas Grn Havcr1 Hspa8 Mmp19 Mmp9 Nefh Nefl Nog Timd2 Timp1	121021 12491 12519 13040 14102 14824 15481 171283 171284 17395 18039 18121 21857 380684 58223	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080501	GM1 gangliosidosis type 2 Aliases: juvenile GM1 gangliosidosis	Glb1	12091	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080502	GM1 gangliosidosis type 1	Glb1	12091	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111392	mucopolysaccharidosis type IVB Aliases: MPS IVB MPS4B Morquio disease type B Morquio syndrome B beta-D-galactosidase deficiency mucopolysaccharidosis type IVB (Morquio)	Glb1	12091	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3322	GM1 gangliosidosis Aliases: Beta-galactosidase deficiency deficiency of beta-galactosidase gangliosidosis GM1	Glb1	12091	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080489	GM1 gangliosidosis type 3 Aliases: adult-onset GM1 gangliosidosis	Glb1	12091	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12804	mucopolysaccharidosis IV Aliases: Mucopolysaccharidosis, MPS-IV deficiency of N-acetylgalactosamine-6-sulphatase deficiency of chondroitinsulphatase galactosamine-6-sulfatase deficiency	Ccl11 Galns Glb1	12091 20292 50917	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060371	Parkinson's disease 8 Aliases: autosomal dominant Parkinson disease 8 autosomal dominant Parkinson's disease 8	LRRK1 LRRK2	120892 79705	Homo sapiens (human)	Alliance of Genome Resources
DOID:9255	frontotemporal dementia Aliases: Wilhemsen-Lynch disease frontotemporal lobar degeneration multiple system tauopathy with presenile dementia pallidopontonigral degeneration	BACE2 CHMP2B EWSR1 FUS GRN LRRK2 MAPT NEFL TARDBP TREM2 UBQLN1 UBQLN2 UBQLN4 VCP	120892 2130 23435 2521 25825 25978 2896 29978 29979 4137 4747 54209 56893 7415	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050890	synucleinopathy Aliases: Synucleinopathies alpha Synucleinopathies	DCTN1 KIF1B LRRK2	120892 1639 23095	Homo sapiens (human)	Alliance of Genome Resources
DOID:9743	diabetic neuropathy	AKR1B1 ALDH2 BAD BDKRB1 BDNF CCL5 CD63 CNR1 EPO F7 FTO GGT1 GHRL HGF HHIP IFNG IGF1R INSR INSRR LRRK2 MAPK14 MBP MPZ NGF NGFR NRG1 NTRK1 PGF PLAT PTGS2 SORD SREBF1 TGFB1 TGFB2 TGFB3 TLR4 TNF TRPA1 UCP2 UCP3 VCAM1 VEGFA	120892 1268 1432 2056 2155 217 231 2678 3082 3084 3458 3480 3643 3645 4155 4359 4803 4804 4914 51738 5228 5327 572 5743 623 627 6352 64399 6652 6720 7040 7042 7043 7099 7124 7351 7352 7412 7422 79068 8989 967	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060731	congenital central hypoventilation syndrome Aliases: CCHS Ondine curse Ondine syndrome central congenital hypoventilation syndrome congenital central alveolar hypoventilation syndrome	Bdnf	12064	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9427	hypertensive encephalopathy	Bdnf Ppara	12064 19013	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3324	mood disorder Aliases: episodic mood disorder	Avpr1b Bdnf Hcn1	12064 15165 26361	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9778	irritable bowel syndrome Aliases: IBD Irritable colon	Bdnf Crhr1 Crhr2 Efnb2 Ephb2 Fos Gdnf Htr3a Htr7 Mlxipl Nos3 Pdia3 Rnf43	12064 12921 12922 13642 13844 14281 14573 14827 15561 15566 18127 207742 58805	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10933	obsessive-compulsive disorder Aliases: Anancastic neurosis obsessive compulsive disorder	Bdnf Comt Gdnf Htr2a Slc6a4	12064 12846 14573 15558 15567	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13399	color blindness Aliases: BLINDNESS COLOR Colour blindness Colour vision deficiency	Bdnf Cnga3 Tyr	12064 12790 22173	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12894	Sjogren's syndrome Aliases: Sicca syndrome Sjogren syndrome xerodermosteosis	Bdnf Bst2 Cast Ccr5 Ccr7 Cd40lg Ctla4 Cyp1a1 Fas Gdnf H2-Aa H2-Ab1 H2-Eb1 Hnrnph1 Icam1 Ifng Il10 Il13 Il1rn Il23r Il2 Il2ra Il4 Lta Mmp9 Muc19 Muc5ac Nefl Pon1 Reg1 Selp St14 Tgfb1 Thbs1 Tnf Tnfsf13b Vim	12064 12380 12477 12774 12775 13076 14102 14573 14960 14961 14969 15894 15978 16153 16163 16181 16183 16184 16189 16992 17395 17833 18039 18979 19143 19692 20344 209590 21803 21825 21926 21947 22352 239611 24099 59013 69550	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13406	pulmonary sarcoidosis Aliases: lung Sarcoidosis	Abo Bdnf C3 Ccl19 Ccr5 Ccr7 Cftr Chi3l1 Cxcl9 Cxcr3 Egr1 H2-Eb1 Il15 Il18r1 Il1rn Lta Muc1 Ngf Nr3c1 Ntf3 Ntrk1 Tgfb1 Tlr2 Tnc Tnf Tnfrsf1b Vip	12064 12266 12638 12654 12766 12774 12775 13653 14815 14969 16168 16181 16182 16992 17329 17829 18049 18205 18211 21803 21923 21926 21938 22353 24047 24088 80908	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10126	keratoconus Aliases: conical cornea	Bdnf Bmp4 Fga Hgf Il1a Il1rn Kera Mmp2 Pon1 Tuba3a Tuba3b	12064 12159 14161 15234 16175 16181 16545 17390 18979 22144 22147	Mus musculus (house mouse)	Alliance of Genome Resources

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