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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 **7526 - 7550** of **7942** in total

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Disease ID ▼	Disease Name	Gene Symbol	Gene ID	Organism	Source
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: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	100492673	Xenopus tropicalis (tropical 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	CG9550	33913	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0050812	spondyloepimetaphyseal dysplasia, Pakistani type Aliases: spondyloepimetaphyseal dysplasia Pakistani type	PAPSS2	9060	Homo sapiens (human)	Glyco-Disease Genes Database DisGeNET DisGeNET Alliance of Genome Resources
DOID:0050811	congenital adrenal hyperplasia Aliases: adrenal hyperplasia 1 congenital lipoid adrenal hyperplasia lipoid CAH	ACADVL CFC1 CHST3 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP21A2 CYP2B6 CYP2C19 CYP4F3 FH GLO1 GML HADHA HSD11B2 HSD17B1 HSD17B3 HSD17B6 HSD3B1 HSD3B2 IDS MDH2 OTOA SDHB	146183 1555 1557 1583 1584 1585 1586 1588 1589 2271 2739 2765 3030 3283 3284 3291 3292 3293 3423 37 4051 4191 55997 6390 8630 9469	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0050809	mucopolysaccharidosis IX	Hyal1	15586	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050809	mucopolysaccharidosis IX	HYAL1 HYAL2	3373 8692	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0050809	mucopolysaccharidosis IX	Hyal1	367166	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050807	Kahrizi syndrome Aliases: KHRZ intellectual disability, Kahrizi type intellectual disability-cataract-coloboma-kyphosis syndrome	SRD5A3	79644	Homo sapiens (human)	DisGeNET 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	298690	Rattus norvegicus (Norway rat)	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	117592	Mus musculus (house mouse)	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:0050802	Ehlers-Danlos syndrome spondylodysplastic type 2 Aliases: EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 Ehlers-Danlos syndrome progeroid type	beta3GalTII	35848	Drosophila melanogaster (fruit fly)	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 B4GALT7 DCN HSPG2 PRG2 VCAN	11285 126792 1462 1634 3339 5553	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0050802	Ehlers-Danlos syndrome spondylodysplastic type 2 Aliases: EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 Ehlers-Danlos syndrome progeroid type	sqv-2	173635	Caenorhabditis elegans	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	572324	Danio rerio (zebrafish)	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	548849	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0050801	androgenic alopecia Aliases: alopecia androgenetica, male pattern baldness androgenetic alopecia	AGA AGXT AKR1C4 CYP17A1 CYP27B1 HPGDS PARP1 PRNP PTGDS SRD5A1 SRD5A2 STS VCAN	1109 142 1462 1586 1594 175 189 27306 412 5621 5730 6715 6716	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0050800	cerebral creatine deficiency syndrome 1 Aliases: CEREBRAL CREATINE DEFICIENCY SYNDROME 1 SLC6A8 deficiency creatine transporter deficiency	CALR	811	Homo sapiens (human)	DisGeNET
DOID:0050797	peroxisomal acyl-CoA oxidase deficiency Aliases: Peroxisomal acyl-coenzyme A oxidase	ACOX1	51	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0050797	peroxisomal acyl-CoA oxidase deficiency Aliases: Peroxisomal acyl-coenzyme A oxidase	ACOX1	37028	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0050795	cone dystrophy Aliases: retinal cone dystrophy	CACNA2D4	93589	Homo sapiens (human)	DisGeNET
DOID:0050793	short QT syndrome	Kcnq1	84020	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050793	short QT syndrome	Kcnq1	16535	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050793	short QT syndrome	CACNA2D1 KCNQ1	3784 781	Homo sapiens (human)	DisGeNET Alliance of Genome Resources

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