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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 **7001 - 7025** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:0111230	congenital muscular dystrophy-dystroglycanopathy type A11 Aliases: MDDGA11 Walker-Warburg syndrome or muscle-eye-brain disease B3GALNT2-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A11	b3galnt2	553716	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0080556	congenital disorder of glycosylation Id Aliases: congenital disorder of glycosylation 1d	alg3	553725	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:9499	disseminated eosinophilic collagen disease	ETNK1	55500	Homo sapiens (human)	DisGeNET
DOID:0111453	2-aminoadipic 2-oxoadipic aciduria Aliases: AMOXAD alpha-aminoadipic aciduria	DHTKD1	55526	Homo sapiens (human)	Alliance of Genome Resources
DOID:1725	peritoneum cancer	PRG2	5553	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111236	congenital muscular dystrophy-dystroglycanopathy type A3 Aliases: MDDGA3 Walker-Warburg syndrome or muscle-eye-brain disease, POMGNT1-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A3	POMGNT1	55624	Homo sapiens (human)	Glyco-Disease Genes Database DisGeNET Alliance of Genome Resources
DOID:0112378	muscular dystrophy-dystroglycanopathy type B3 Aliases: MDDGB3 congenital muscular dystrophy POMGNT1-related	POMGNT1	55624	Homo sapiens (human)	Alliance of Genome Resources
DOID:1415	gyrate atrophy Aliases: Gyrate atrophy of the choroid and/or retina Ornithinemia with gyrate atrophy gyrate atrophy of the retina	PRKAA2 ST8SIA4	5563 7903	Homo sapiens (human)	DisGeNET
DOID:0060543	Hermansky-Pudlak syndrome 5	PRKAA2	5563	Homo sapiens (human)	DisGeNET
DOID:14451	hyperkalemic periodic paralysis Aliases: familial hyperkalemic periodic paralysis	PRKAA2	5563	Homo sapiens (human)	DisGeNET DisGeNET
DOID:14452	hypokalemic periodic paralysis Aliases: Hypokalemic familial periodic paralysis Periodic paralysis I Westphal disease familial hypokalemic periodic paralysis periodic hypokalemic paralysis	PRKAA2	5563	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0070433	hyperphosphatasia with impaired intellectual development syndrome 1 Aliases: GPIBD2 HPMRS1 glycosylphosphatidylinositol biosynthesis defect 2 hyperphosphatasia with mental retardation syndrome 1	PIGV	55650	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:8455	pyridoxine deficiency anemia Aliases: vitamin B6 deficiency syndrome	PIGV	55650	Homo sapiens (human)	DisGeNET
DOID:0050813	spondyloepiphyseal dysplasia with congenital joint dislocations Aliases: CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS CHST3-Related Skeletal Dysplasia Humero-spinal dysostosis with congenital heart disease Kozlowski Celermajer Tink syndrome Omani Type Spondyloepiphyseal Dysplasia humero-spinal dysostosis humerospinal dysostosis	chst3a chst3b	556800 559721	Danio rerio (zebrafish)	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:0080470	developmental and epileptic encephalopathy 36 Aliases: congenital disorder of glycosylation, type Is early infantile epileptic encephalopathy 36	alg13	557181	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0111239	congenital muscular dystrophy-dystroglycanopathy type A10 Aliases: MDDGA10 Walker-Warburg syndrome or muscle-eye-brain disease, TMEM5-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A10	rxylt1	557187	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:1094	attention deficit hyperactivity disorder Aliases: ADHD attention deficit disorder hyperkinetic disorder	usta	557218	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0112022	non-syndromic X-linked intellectual disability 21 Aliases: MRX21 MRX34 X-linked mental retardation 21 X-linked mental retardation 21/34 X-linked mental retardation 34	il1rapl1a il1rapl1b	557801 568868	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0070263	congenital disorder of glycosylation type IIk Aliases: CDG IIk CDG syndrome type IIk CDG2K CDGIIdk Carbohydrate deficient glycoprotein syndrome type IIk Congenital disorder of glycosylation type 2k TMEM165-CDG	TMEM165	55858	Homo sapiens (human)	Glyco-Disease Genes Database DisGeNET Alliance of Genome Resources
DOID:0110777	hereditary spastic paraplegia 26 Aliases: GM2 synthase deficiency SPG26 autosomal recessive spastic paraplegia 26 autosomal recessive spastic paraplegia type 26	b4galnt1a b4galnt1b	558684 793635	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0050990	episodic ataxia type 2	PRKCSH	5589	Homo sapiens (human)	DisGeNET
DOID:14283	primary hypertrophic osteoarthropathy Aliases: Pachydermoperiostosis of nail Pachydermoperiostosis syndrome	ACSS2 CBR1 PTGS2	55902 5743 873	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0050567	orofacial cleft	ACSS2	55902	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070042	Coffin-Siris syndrome 1 Aliases: CSS1 MRD12 autosomal dominant mental retardation 12 fifth digit syndrome	CD14 CMAS SDHB SDHC SDHD SORD TNFRSF10C	55907 6390 6391 6392 6652 8794 929	Homo sapiens (human)	DisGeNET

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