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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 **14401 - 14425** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0090011	immunodeficiency-centromeric instability-facial anomalies syndrome 4 Aliases: ICF syndrome 4	HELLS	3070	Homo sapiens (human)	Alliance of Genome Resources
DOID:4448	macular degeneration Aliases: Macular degeneration of retina	Hsc70-4 Snmp1 Snmp2 Sod3 Spn28Dc Tl dpp	33432 34091 36232 38868 41840 42514 43222	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110553	autosomal dominant nonsyndromic deafness 23 Aliases: DFNA23 autosomal dominant deafness 23	SIX1	6495	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110637	muscular dystrophy-dystroglycanopathy type B6 Aliases: MDC1D MDDGB6 congenital muscular dystrophy LARGE-related congenital muscular dystrophy type 1D muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6 muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6	Large1	16795	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080930	primary localized cutaneous amyloidosis 1 Aliases: familial primary localized cutaneous amyloidosis-1	Osmr	310132	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:2256	osteochondrodysplasia Aliases: Cartilage Development disorder Congenital anomaly of cartilage Osteochondrodysplasia syndrome chondrodystrophy skeletal dysplasia	chst3a chst3b	556800 559721	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:12206	dengue hemorrhagic fever Aliases: DHF	CD1D CD209 FCGR2A IFNL1 IL21 KIR3DS1 SLC6A4	2212 282618 30835 3813 59067 6532 912	Homo sapiens (human)	Alliance of Genome Resources
DOID:13543	hyperparathyroidism	CASR CDC73 MYC TRPV6	4609 55503 79577 846	Homo sapiens (human)	Alliance of Genome Resources
DOID:783	end stage renal disease Aliases: end stage renal failure end-stage kidney disease	ace ngfb	565980 58133	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0070265	congenital disorder of glycosylation type IIm Aliases: SLC35A2-CDG congenital disorder of glycosylation type 2m developmental and epileptic encephalopathy 22 epileptic encephalopathy, early infantile, 22	Ugalt	31255	Drosophila melanogaster (fruit fly)	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	237831	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110565	autosomal dominant nonsyndromic deafness 3B Aliases: DFNA3B autosomal dominant deafness 3B	Gjb6	14623	Mus musculus (house mouse)	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:3008	invasive ductal carcinoma Aliases: Infiltrating ductal carcinoma of breast Invasive ductal carcinoma, NST ductal adenocarcinoma	kita wif1	30256 30476	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:9467	nail-patella syndrome Aliases: Fong disease Turner-Kiser syndrome hereditary onychoostedysplasia iliac horn syndrome nail patella syndrome	Ldb1	16825	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112150	X-linked spondyloepimetaphyseal dysplasia Aliases: SEMD X-linked SEMDX	Bgn	25181	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050692	Brody myopathy	Atp2a1 Atp2a2 Atp2a3	11937 11938 53313	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110110	atrial heart septal defect 5 Aliases: ASD5 atrial septal defect 5	Actc1	29275	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060181	ischemic colitis	vegfaa	30682	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:440	neuromuscular disease	GDNF GPI NEMF	2668 2821 9147	Homo sapiens (human)	Alliance of Genome Resources
DOID:1909	melanoma Aliases: Naevocarcinoma malignant melanoma	bmp4.S kit.L	373579 399322	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0110028	age related macular degeneration 5 Aliases: ARMD5	ERCC6	2074	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060322	mastoiditis	Rela Tlr2 Tlr4	19697 21898 24088	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080441	developmental and epileptic encephalopathy 49 Aliases: DEE49 early infantile epileptic encephalopathy 49	DENND5A	23258	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050570	congenital disorder of glycosylation type I	alg12 alg1 alg6 alg8 alg9 dpm1	327601 334161 393598 445202 445327 569494	Danio rerio (zebrafish)	Alliance of Genome Resources

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