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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 **1001 - 1025** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0050816	urofacial syndrome Aliases: Ochoa syndrome hydronephrosis with peculiar facial expression	Hpse2	545291	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112376	muscular dystrophy-dystroglycanopathy type B15 Aliases: MDDGB15 congenital muscular dystrophy DPM3-related	DPM3	54344	Homo sapiens (human)	Alliance of Genome Resources
DOID:3374	peripheral osteosarcoma Aliases: Surface Osteosarcoma	NANS	54187	Homo sapiens (human)	DisGeNET
DOID:0080576	spondyloepimetaphyseal dysplasia, Genevieve-type	NANS	54187	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:4257	Caffey disease Aliases: cortical congenital hyperostosis infantile cortical hyperostosis	A4GALT	53947	Homo sapiens (human)	DisGeNET
DOID:0080557	congenital disorder of glycosylation Ie Aliases: congenital disorder of glycosylation 1e	ALG12 DPM1 PMM2	5373 79087 8813	Homo sapiens (human)	Glyco-Disease Genes Database DisGeNET Alliance of Genome Resources
DOID:0070192	autosomal recessive chronic granulomatous disease 1 Aliases: CDG1 autosomal recessive chronic granulomatous disease cytochrome b-positive type I chronic granulomatous disease due to deficiency of NCF-1 deficiency of NCF1 deficiency of SOC2 deficiency of neutrophil cytosol factor 1 deficiency of p47-PHOX deficiency of soluble oxidase component II	PMM2 SLC35A2	5373 7355	Homo sapiens (human)	DisGeNET
DOID:0080566	congenital disorder of glycosylation In Aliases: congenital disorder of glycosylation 1n	MOGS PMM2 RFT1 SLC35A2 SLC39A8	5373 64116 7355 7841 91869	Homo sapiens (human)	Glyco-Disease Genes Database DisGeNET Alliance of Genome Resources
DOID:11975	coloboma of optic nerve Aliases: Coloboma of optic disc Morning glory syndrome	INPP5E PMM2	5373 56623	Homo sapiens (human)	DisGeNET
DOID:0111181	familial hemiplegic migraine 1 Aliases: FHM1 MHP1 familial hemiplegic migraine1 with progressive cerebellar ataxia	PMM2 PRKCSH	5373 5589	Homo sapiens (human)	DisGeNET
DOID:0112002	immunodeficiency 47 Aliases: CDG IIs CDG2S CDGIIs IMD47 congenital disorder of glycosylation type IIs immunodeficiency and hepatopathy with or without neurologic features	ATP6AP1	537	Homo sapiens (human)	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	53374	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2256	osteochondrodysplasia Aliases: Cartilage Development disorder Congenital anomaly of cartilage Osteochondrodysplasia syndrome chondrodystrophy skeletal dysplasia	Chst3	53374	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9341	urethral diverticulum	PLD1	5337	Homo sapiens (human)	DisGeNET
DOID:5644	tricuspid valve prolapse	PLD1	5337	Homo sapiens (human)	DisGeNET
DOID:6367	acral lentiginous melanoma Aliases: acral lentiginous melanoma, malignant malignant acral lentiginous melanoma	PLD1 PTEN	5337 5728	Homo sapiens (human)	DisGeNET
DOID:0080633	developmental cardiac valvular defect	PLD1 PLD2	5337 5338	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090064	familial cold autoinflammatory syndrome 3	PLCG2	5336	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:0080081	nonsyndromic congenital nail disorder 3	PLCD1	5333	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0112303	spondylometaphyseal dysplasia with corneal dystrophy Aliases: SMDCD	PLCB3	5331	Homo sapiens (human)	Alliance of Genome Resources
DOID:4717	extragonadal germ cell cancer Aliases: extragonadal germ cell malignant tumor neoplasm of Extragonadal germ cell	PLCB3	5331	Homo sapiens (human)	DisGeNET
DOID:14566	disease of cellular proliferation Aliases: cell process disease neoplasm	PLAUR TP53	5329 7157	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111677	familial benign fleck retina Aliases: FRFB	PLA2G5	5322	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111246	amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 Aliases: ALS-PDC Amyotrophic lateral sclerosis-parkinsonism-dementia of Guam syndrome Guam disease Lytico-Bodig disease PDALS amyotrophic lateral sclerosis-parkinsonism/dementia complex of Guam parkinsonism-dementia-ALS complex	PLA2G4A PTGS2	5321 5743	Homo sapiens (human)	DisGeNET
DOID:9439	chronic cholangitis	PKM	5315	Homo sapiens (human)	DisGeNET

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