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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 **5226 - 5250** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:11661	blue color blindness Aliases: Tritan defect Tritanopia	ACO2 CA4 CACNA2D4 ELOVL4 G6PD HS6ST1 MBD4 NYX PCYT1A SDHC STS	2539 412 50 5130 60506 6391 6785 762 8930 93589 9394	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:13399	color blindness Aliases: BLINDNESS COLOR Colour blindness Colour vision deficiency	ACO2 CA4 CACNA2D4 ELOVL4 G6PD HS6ST1 MBD4 NYX PCYT1A SDHC STS	2539 412 50 5130 60506 6391 6785 762 8930 93589 9394	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0060179	Renpenning syndrome Aliases: Golabi-Ito-Hall syndrome Sutherland-Haan X-linked mental retardation syndrome X-linked intellectual disability due to PQBP1 mutations X-linked intellectual disability, Renpenning type X-linked mental retardation Renpenning type X-linked mental retardation with spastic diplegia syndromic X-linked mental retardation 8	G6PD STS	2539 412	Homo sapiens (human)	DisGeNET
DOID:582	hemoglobinuria	G6PD PIGA	2539 5277	Homo sapiens (human)	DisGeNET
DOID:8747	obsolete subacute myeloid leukemia	ETNK1 G6PD	2539 55500	Homo sapiens (human)	DisGeNET
DOID:0080483	peroxisome biogenesis disorder 8A Aliases: peroxisome biogenesis disorder 8A (Zellweger)	CAT G6PD	2539 847	Homo sapiens (human)	DisGeNET
DOID:0060346	Native American myopathy Aliases: Bailey-Bloch congenital myopathy congenital myopathy 13	G6PD	2539	Homo sapiens (human)	DisGeNET
DOID:12919	Plasmodium ovale malaria Aliases: Malariaby Plasmodium ovale Ovale malaria	G6PD	2539	Homo sapiens (human)	DisGeNET
DOID:3262	phagocyte bactericidal dysfunction Aliases: phagocytic dysfunction	G6PD	2539	Homo sapiens (human)	DisGeNET
DOID:11726	Emery-Dreifuss muscular dystrophy Aliases: EDMD	G6PD	2539	Homo sapiens (human)	DisGeNET
DOID:0081331	glycogen storage disease Ic	SLC37A4	2542	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081330	glycogen storage disease Ib	SLC37A4	2542	Homo sapiens (human)	Alliance of Genome Resources
DOID:1936	atherosclerosis	Hmgb1 Ptges3 Rbp4	25459 25703 362809	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:418	systemic scleroderma Aliases: Scleroderma Scleroderma syndrome progressive systemic sclerosis systemic sclerosis	Chi3l1 Hmgb1 Rbp4	25459 25703 89824	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:13603	obstructive jaundice Aliases: Cholestatic Jaundice Cholestatic jaundice syndrome Obstructive hyperbilirubinemia	Hmgb1 Pcna Ucp2	25459 25737 54315	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:10908	hydrocephalus Aliases: hydrocephalus, X-linked hydrocephalus, nonsyndromic, autosomal recessive	Hmgb1 Pomk Ppara	25459 25747 306549	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:1338	congenital dyserythropoietic anemia Aliases: congenital dyshaematopoietic anaemia	Man2a1	25478	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111218	Friedreich ataxia 1 Aliases: FA1 FRDA1	ACO2 CAT GAA GPAA1 GPX1 HPGDS ICAM1 LPL PIP5K1B PRKAA2 VCAM1	2548 27306 2876 3383 4023 50 5563 7412 8395 847 8733	Homo sapiens (human)	DisGeNET
DOID:0081139	agammaglobulinemia 7	Pik3r1	25513	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111949	immunodeficiency 36 Aliases: IMD36 activated phosphoinositide 3-kinase delta syndrome 2	Pik3r1	25513	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:7305	astroblastoma	Pik3r1	25513	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:5409	lung small cell carcinoma	Pik3r1	25513	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:14179	X-linked agammaglobulinemia Aliases: BTK deficiency Bruton agammaglobulinemia tyrosine kinase deficiency Bruton disease Bruton's Sex-Linked Agammaglobulinemia Bruton's agammaglobulinaemia Bruton's type agammaglobulinemia Bruton-type agammaglobulinemia	Pik3r1	25513	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111454	SHORT syndrome Aliases: Aarskog-Ose-Pande syndrome Lipodystrophy-Rieger anomaly-diabetes syndrome Rieger anomaly-partial lipodystrophy syndrome short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay	Pik3r1	25513	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:12554	hemolytic-uremic syndrome Aliases: haemolytic-uraemic syndrome hemolytic uremic syndrome	C1galt1c1 Il1rl1	25556 302499	Rattus norvegicus (Norway rat)	Alliance of Genome Resources

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