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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 **4276 - 4300** of **7942** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism
DOID:0111195	erythrokeratodermia variabilis et progressiva 1	ELOVL4 KDSR	2531 6785	Homo sapiens (human)
DOID:0111012	cone-rod dystrophy 7 Aliases: CORD7	ELOVL4	6785	Homo sapiens (human)
DOID:0050981	spinocerebellar ataxia type 34	ELOVL4	6785	Homo sapiens (human)
DOID:0050958	spinocerebellar ataxia type 7	ELOVL5 ENPP2 PRNP SPTLC3	5168 55304 5621 60481	Homo sapiens (human)
DOID:0050956	spinocerebellar ataxia type 6	ELOVL5 MPI	4351 60481	Homo sapiens (human)
DOID:0050882	spinocerebellar ataxia type 5	ELOVL5	60481	Homo sapiens (human)
DOID:0050985	spinocerebellar ataxia type 38	ELOVL5	60481	Homo sapiens (human)
DOID:9839	accommodative esotropia	ELOVL6	79071	Homo sapiens (human)
DOID:2018	hyperinsulinism Aliases: hyperinsulinemia	EMI2 FBP26 GLK1 HXK1 HXK2	850317 850614 852128 852639 853286	Saccharomyces cerevisiae S288C
DOID:9993	hypoglycemia Aliases: Hypoglycaemia	EMI2 GAC1 GIP2 GLK1 HXK1 HXK2	850317 850614 852128 852639 854350 856781	Saccharomyces cerevisiae S288C
DOID:9970	obesity	EMI2 GCY1 GLK1 HXK1 HXK2 RHO1 TDH1 TDH2 TDH3 YPR1 ZWF1	850317 850614 851974 852128 852639 853106 853395 853465 854287 855480 856294	Saccharomyces cerevisiae S288C
DOID:11714	gestational diabetes Aliases: GDM Gestational diabetes mellitus Maternal gestational diabetes mellitus	EMI2 GLK1 HXK1 HXK2 OGG1	850317 850614 852128 852639 854942	Saccharomyces cerevisiae S288C
DOID:9351	diabetes mellitus Aliases: diabetes	EMI2 GLK1 HXK1 HXK2 ZWF1	850317 850614 852128 852639 855480	Saccharomyces cerevisiae S288C
DOID:0060639	permanent neonatal diabetes mellitus Aliases: PDMI PNDM permanent diabetes mellitus of infancy	EMI2 GLK1 HXK1 HXK2	850317 850614 852128 852639	Saccharomyces cerevisiae S288C
DOID:0070216	familial hyperinsulinemic hypoglycemia 3 Aliases: HHF3 hyperinsulinemic hypoglycemia due to glucokinase deficiency hyperinsulinism due to glucokinase deficiency	EMI2 GLK1 HXK1 HXK2	850317 850614 852128 852639	Saccharomyces cerevisiae S288C
DOID:0111100	maturity-onset diabetes of the young type 2 Aliases: MODY glucokinase-related MODY type 2 MODY2	EMI2 GLK1 HXK1 HXK2	850317 850614 852128 852639	Saccharomyces cerevisiae S288C
DOID:13317	hyperinsulinemic hypoglycemia Aliases: Islet cell hyperplasia nesidioblastosis persistent hyperinsulinemia hypoglycemia of infancy	EMI2 GLK1 HXK1 HXK2	850317 850614 852128 852639	Saccharomyces cerevisiae S288C
DOID:10584	retinitis pigmentosa Aliases: pericentral pigmentary retinopathy	EMI2 GLK1 HXK1 HXK2	850317 850614 852128 852639	Saccharomyces cerevisiae S288C
DOID:4194	glucose metabolism disease Aliases: disorder of glucose metabolism	EMI2 HXK1 HXK2	850614 852128 852639	Saccharomyces cerevisiae S288C
DOID:0060728	NGLY1-deficiency Aliases: NGLY1-CDDG congenital disorder of deglycosylation congenital disorder of glycosylation type Iv deficiency of N-glycanase 1	ENGASE NGLY1 PGM1	5236 55768 64772	Homo sapiens (human)
DOID:8445	intestinal volvulus Aliases: Twist of intestine, bowel, or colon Volvulus familial intestinal malrotation volvulus of midgut	ENO1 HK1 HPGDS PIGQ SMC3	2023 27306 3098 9091 9126	Homo sapiens (human)
DOID:0060782	EEC syndrome Aliases: Rudiger syndrome 1 Walker-Clodius syndrome ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome ectrodactyly-ectodermal dysplasia-clefting syndrome	ENO1 LCT MRC1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN	2023 3938 4360 5290 5291 5293 5294 5728	Homo sapiens (human)
DOID:0060783	ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 Aliases: EEC syndrome 3 EEC3	ENO1 LCT MRC1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN	2023 3938 4360 5290 5291 5293 5294 5728	Homo sapiens (human)
DOID:0060784	ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 Aliases: EEC syndrome 1 EEC1	ENO1 LCT MRC1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN	2023 3938 4360 5290 5291 5293 5294 5728	Homo sapiens (human)
DOID:0080356	IgG4-related disease	ENO1 PLB1 SDC1 SMUG1	151056 2023 23583 6382	Homo sapiens (human)

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