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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 **201 - 225** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0110299	autosomal recessive limb-girdle muscular dystrophy type 2I Aliases: LGMD2I Limb-girdle muscular dystrophy due to FKRP deficiency MDDGC5 muscular dystrophy limb-girdle type 2I muscular dystrophy-dystroglycanopathy (limb-girdle) type C 5 muscular dystrophy-dystroglycanopathy limb-girdle FRKP-related	fkrp.L	108698503	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0111108	maturity-onset diabetes of the young type 10 Aliases: MODY10	ins.L ins.S	378695 378696	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0080561	congenital disorder of glycosylation Ii Aliases: congenital disorder of glycosylation 1i	alg2.L	446622	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
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	chst3.L chst3.S	108696269 108697511	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:14330	Parkinson's disease Aliases: Parkinson disease paralysis agitans	akt1.S	399170	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0110292	autosomal recessive limb-girdle muscular dystrophy type 2O Aliases: LGMD2O MDDGC3 muscular dystrophy-dystroglycanopathy (limb-girdle) type C3 muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related	pomgnt1.L pomgnt1.S	414570 495292	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0080201	Peters plus syndrome Aliases: Krause-Kivlin syndrome Peters anomaly-short limb dwarfism syndrome Peters-plus syndrome	b3glct.L b3glct.S	100127336 108709947	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0060639	permanent neonatal diabetes mellitus Aliases: PDMI PNDM permanent diabetes mellitus of infancy	ins.L ins.S	378695 378696	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0080557	congenital disorder of glycosylation Ie Aliases: congenital disorder of glycosylation 1e	dpm1.L dpm1.S	414689 734516	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0080567	congenital disorder of glycosylation Ip Aliases: congenital disorder of glycosylation 1p	alg11.L alg11.S	108709929 733388	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0014667	disease of metabolism Aliases: metabolic disease	ins.L ins.S	378695 378696	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0112315	brain small vessel disease 3 Aliases: BSVD3	colgalt1.L colgalt1.S	100125229 495521	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:10283	prostate cancer Aliases: NGP - new growth of prostate hereditary prostate cancer malignant tumor of the prostate prostate cancer, familial prostate neoplasm prostatic cancer prostatic neoplasm tumor of the prostate	akt1.S ins.L ins.S	378695 378696 399170	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:11054	urinary bladder cancer Aliases: bladder cancer tumor of the bladder	akt1.S	399170	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:4948	gallbladder carcinoma Aliases: cancer of the gallbladder carcinoma gallbladder carcinoma of gallbladder	abo.2.L abo.3.L abo.4.L	108698211 108698863 495825	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0050579	glycogen storage disease XV Aliases: Glycogen storage disease 15 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency glycogen storage disease type XV	gyg1.L gyg1.S	446485 779133	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0112382	muscular dystrophy-dystroglycanopathy type C8 Aliases: LGMDR24 MDDGC2 autosomal recessive limb-girdle muscular dystrophy 24 muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT2-related	pomgnt2.L	444520	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:13359	Ehlers-Danlos syndrome Aliases: Cutis hyperelastica elastic skin	b4galt7.L b4galt7.S	108710989 495369	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:7575	pancreatic intraductal papillary-mucinous neoplasm	akt1.S	399170	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:2957	pulmonary tuberculosis	akt1.S	399170	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:5212	congenital disorder of glycosylation Aliases: carbohydrate-deficient glycoprotein syndrome	b4galt1.1.L b4galt1.1.S b4galt1.2.L b4galt1.2.S	108706812 108706813 108712215 108712216	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0050802	Ehlers-Danlos syndrome spondylodysplastic type 2 Aliases: EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 Ehlers-Danlos syndrome progeroid type	b3galt6.L b3galt6.S	108696563 108697636	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:3587	pancreatic ductal carcinoma Aliases: malignant neoplasm of duct of Wirsung pancreatic duct cancer	ins.L ins.S	378695 378696	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:10652	Alzheimer's disease Aliases: Alzheimer disease Alzheimers dementia	eno1.S gapdh.S	380259 380298	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:13406	pulmonary sarcoidosis Aliases: lung Sarcoidosis	abo.2.L abo.3.L abo.4.L	108698211 108698863 495825	Xenopus laevis (African clawed frog)	Alliance of Genome Resources

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