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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 **3751 - 3775** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism
DOID:11713	diabetic angiopathy Aliases: Diabetic vascular disorder diabetic peripheral angiopathy	Rbp4 Tnf	19662 21926	Mus musculus (house mouse)
DOID:0080759	Fanconi renotubular syndrome 3	EHHADH	1962	Homo sapiens (human)
DOID:0111060	Ambras type hypertrichosis universalis congenita Aliases: Ambras syndrome HTC1	EFNA5	1946	Homo sapiens (human)
DOID:0111062	familial hypobetalipoproteinemia 1 Aliases: FHBL1	EFNA5 PLA2G7	1946 7941	Homo sapiens (human)
DOID:0060252	sclerocornea Aliases: isolated congenital sclerocornea	ARSD EFNA5 FIG4	1946 414 9896	Homo sapiens (human)
DOID:1387	hypolipoproteinemia Aliases: Hypolipoproteinaemia	EFNA5 GPLD1 HADHA HADHB HSD11B1 HSPG2 IL18R1 LCAT LGALS1 LPL PIK3C2A PLA2G10 PLA2G2A PLA2G7 ST8SIA4	1946 2822 3030 3032 3290 3339 3931 3956 4023 5286 5320 7903 7941 8399 8809	Homo sapiens (human)
DOID:1391	Norum disease Aliases: LECITHIN CHOLESTEROL ACYLTRANSFERASE DEFICIENCY lecithin acyltransferase deficiency	EFNA5 GPLD1 HADHA HADHB HSD11B1 HSPG2 IL18R1 LCAT LGALS1 LPL PIK3C2A PLA2G10 PLA2G2A PLA2G7 ST8SIA4	1946 2822 3030 3032 3290 3339 3931 3956 4023 5286 5320 7903 7941 8399 8809	Homo sapiens (human)
DOID:1386	abetalipoproteinemia Aliases: familial hypobetalipoproteinemia microsomal triglyceride transfer protein deficiency disease	EFNA5 GPLD1 HADHA HADHB HSD11B1 HSPG2 IL18R1 LCAT LGALS1 LPL PIK3C2A PLA2G10 PLA2G2A PLA2G7 ST8SIA4	1946 2822 3030 3032 3290 3339 3931 3956 4023 5286 5320 7903 7941 8399 8809	Homo sapiens (human)
DOID:0050766	choreaacanthocytosis Aliases: Levine-Critchley syndrome choreo-acanthocytosis	EFNA5 GPLD1 HADHA HADHB HSD11B1 HSPG2 IL18R1 LCAT LGALS1 LPL PIK3C2A PIK3CA PIK3CB PIK3CD PIK3CG PLA2G10 PLA2G2A PLA2G7 ST8SIA4	1946 2822 3030 3032 3290 3339 3931 3956 4023 5286 5290 5291 5293 5294 5320 7903 7941 8399 8809	Homo sapiens (human)
DOID:1390	hypobetalipoproteinemia Aliases: Hypo-beta-lipoproteinemia	COG2 EFNA5 PLA2G7	1946 22796 7941	Homo sapiens (human)
DOID:1388	Tangier disease Aliases: familial alpha-lipoprotein deficiency familial high density lipoprotein deficiency	EFNA5 FH GPLD1 HADHA HADHB HSD11B1 HSPG2 IL18R1 LCAT LGALS1 LPL PIK3C2A PLA2G10 PLA2G2A PLA2G7 ST8SIA4	1946 2271 2822 3030 3032 3290 3339 3931 3956 4023 5286 5320 7903 7941 8399 8809	Homo sapiens (human)
DOID:200	benign giant cell tumor	EFNA1 IDH1 MRC1	1942 3417 4360	Homo sapiens (human)
DOID:2746	glycogen storage disease V Aliases: Glycogen storage disease 5 Glycogen storage disease, type V McArdle's disease glycogen storage disease type V myophosphorylase deficiency	Pygm	19309	Mus musculus (house mouse)
DOID:0080575	Larsen-like syndrome B3GAT3 type Aliases: Larsen-like syndrome, B3GAT3 type multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome	b3gat3	192334	Danio rerio (zebrafish)
DOID:0050884	triosephosphate isomerase deficiency Aliases: Triose phosphate-isomerase deficiency	tpi1a tpi1b	192309 560753	Danio rerio (zebrafish)
DOID:162	cancer Aliases: malignant neoplasm malignant tumor primary cancer	tpi1a tpi1b	192309 560753	Danio rerio (zebrafish)
DOID:2978	carbohydrate metabolic disorder Aliases: disorder of carbohydrate transport and metabolism inborn carbohydrate metabolism disorder inborn errors of carbohydrate metabolism	tpi1a tpi1b	192309 560753	Danio rerio (zebrafish)
DOID:9282	ocular hypertension	tpi1a tpi1b	192309 560753	Danio rerio (zebrafish)
DOID:1289	neurodegenerative disease Aliases: degenerative disease	sarm1 tpi1a tpi1b	192309 403143 560753	Danio rerio (zebrafish)
DOID:612	primary immunodeficiency disease Aliases: hypoimmunity immune deficiency disorder immunodeficiency syndrome	Oas1a Tlr4	192281 29260	Rattus norvegicus (Norway rat)
DOID:1574	alcohol use disorder Aliases: Ethanol abuse alcohol abuse	Akt1 Akt2 Atp1a2 Comt Gsto2 Htr2a Igf2 Ppp1r3b Ppp1r3c St6gal1	192280 24185 24212 24267 24483 25197 25233 29595 309465 309513	Rattus norvegicus (Norway rat)
DOID:0111156	spermatogenic failure 9 Aliases: globozoospermia male infertility due to round-headed spermatozoa	dpy-19	191628	Caenorhabditis elegans
DOID:2986	IgA glomerulonephritis Aliases: Berger's IgA or IgG nephropathy Focal Glomerulonephritis IgA nephropathy primary IgA nephropathy segmental glomerulonephritis	bre-4	190668	Caenorhabditis elegans
DOID:0070256	congenital disorder of glycosylation type IId Aliases: CDG IId CDG2D CDGIId	bre-4	190668	Caenorhabditis elegans
DOID:28	endocrine system disease	bre-4	190668	Caenorhabditis elegans

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