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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 **3201 - 3225** of **7942** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0112250	Gaucher's disease type IIIC Aliases: GD3C Gaucher disease type 3C Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome Gaucher-like disease cardiovascular Gaucher disease	gba-3 gba-4	177314 178535	Caenorhabditis elegans
DOID:0112250	Gaucher's disease type IIIC Aliases: GD3C Gaucher disease type 3C Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome Gaucher-like disease cardiovascular Gaucher disease	Gba1	14466	Mus musculus (house mouse)
DOID:0112250	Gaucher's disease type IIIC Aliases: GD3C Gaucher disease type 3C Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome Gaucher-like disease cardiovascular Gaucher disease	GBA1	2629	Homo sapiens (human)
DOID:0112251	Ghosal hematodiaphyseal syndrome Aliases: Ghosal hematodiaphyseal dysplasia Ghosal syndrome diaphyseal dysplasia-anemia syndrome	TBXAS1	6916	Homo sapiens (human)
DOID:0112263	hypoinsulinemic hypoglycemia with hemihypertrophy Aliases: HIHGHH hypoinsulinemic hypoglycemia and body hemihypertrophy	Akt2	11652	Mus musculus (house mouse)
DOID:0112263	hypoinsulinemic hypoglycemia with hemihypertrophy Aliases: HIHGHH hypoinsulinemic hypoglycemia and body hemihypertrophy	Akt2	25233	Rattus norvegicus (Norway rat)
DOID:0112263	hypoinsulinemic hypoglycemia with hemihypertrophy Aliases: HIHGHH hypoinsulinemic hypoglycemia and body hemihypertrophy	AKT2	208	Homo sapiens (human)
DOID:0112275	developmental and epileptic encephalopathy 93 Aliases: DEE93 IECEE3 infantile or early childhood epileptic encephalopathy 3	st6gal2	407846	Xenopus tropicalis (tropical clawed frog)
DOID:0112275	developmental and epileptic encephalopathy 93 Aliases: DEE93 IECEE3 infantile or early childhood epileptic encephalopathy 3	ATP6V1A	523	Homo sapiens (human)
DOID:0112282	spondyloepiphyseal dysplasia Kimberley type Aliases: SEDK	ACAN	176	Homo sapiens (human)
DOID:0112298	spondylometaphyseal dysplasia Sedaghatian type Aliases: SMDS Sedaghatian chondrodysplasia congenital lethal metaphyseal chondrodysplasia	GPX1 GPX2	852546 853842	Saccharomyces cerevisiae S288C
DOID:0112300	spondylometaphyseal dysplasia with cone-rod dystrophy Aliases: SMD-CRD SMDCRD spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	PCYT1A	5130	Homo sapiens (human)
DOID:0112303	spondylometaphyseal dysplasia with corneal dystrophy Aliases: SMDCD	PLCB3	5331	Homo sapiens (human)
DOID:0112313	brain small vessel disease	Nr1d1	252917	Rattus norvegicus (Norway rat)
DOID:0112313	brain small vessel disease	NR1D1 SELP	6403 9572	Homo sapiens (human)
DOID:0112313	brain small vessel disease	Nr1d1	217166	Mus musculus (house mouse)
DOID:0112315	brain small vessel disease 3 Aliases: BSVD3	colgalt1	100488616	Xenopus tropicalis (tropical clawed frog)
DOID:0112315	brain small vessel disease 3 Aliases: BSVD3	colgalt1.L colgalt1.S	100125229 495521	Xenopus laevis (African clawed frog)
DOID:0112315	brain small vessel disease 3 Aliases: BSVD3	COLGALT1	79709	Homo sapiens (human)
DOID:0112315	brain small vessel disease 3 Aliases: BSVD3	D2045.9	3565069	Caenorhabditis elegans
DOID:0112315	brain small vessel disease 3 Aliases: BSVD3	Colgalt1	290637	Rattus norvegicus (Norway rat)
DOID:0112315	brain small vessel disease 3 Aliases: BSVD3	colgalt1a colgalt1b	565862 567859	Danio rerio (zebrafish)
DOID:0112315	brain small vessel disease 3 Aliases: BSVD3	CG31915	319025	Drosophila melanogaster (fruit fly)
DOID:0112315	brain small vessel disease 3 Aliases: BSVD3	Colgalt1	234407	Mus musculus (house mouse)
DOID:0112318	Schindler disease type 1 Aliases: NAGA deficiency type 1 alpha-N-acetylgalactosaminidase deficiency type 1	Naga	315165	Rattus norvegicus (Norway rat)

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