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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **2676 - 2700** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:2749	glycogen storage disease Ia	G6PC1 SLC37A4	2538 2542	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080845	omodysplasia 2	FZD2	2535	Homo sapiens (human)	Alliance of Genome Resources
DOID:12978	Plasmodium vivax malaria Aliases: Malaria by Plasmodium vivax Vivax Malaria	ACKR1	2532	Homo sapiens (human)	Alliance of Genome Resources
DOID:3007	breast ductal carcinoma Aliases: duct carcinoma	BCAR1 BSG CD44 RICTOR SLCO1B3 TNFRSF10A XIAP	253260 28234 331 682 8797 9564 960	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080250	erythrokeratodermia variabilis et progressiva 4	KDSR	2531	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050873	follicular lymphoma	CD40 CD40LG CD79B IRF4 KDSR RARRES1 RRAGC	2531 3662 5918 64121 958 959 974	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111431	essential tremor 4 Aliases: ETM4 hereditary essential tremor 4	FUS	2521	Homo sapiens (human)	Alliance of Genome Resources
DOID:3382	liposarcoma Aliases: lipomatous cancer	FUS IL22	2521 50616	Homo sapiens (human)	Alliance of Genome Resources
DOID:14500	fucosidosis Aliases: A-fucosidase deficiency alpha fucosidase deficiency	FUCA1	2517	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0110015	age related macular degeneration 2 Aliases: ARMD2	ABCA4	24	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110354	retinitis pigmentosa 19 Aliases: RP19	ABCA4	24	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111013	cone-rod dystrophy 3 Aliases: CORD3	ABCA4	24	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110915	childhood hypophosphatasia	ALPL	249	Homo sapiens (human)	Alliance of Genome Resources
DOID:14213	hypophosphatasia Aliases: deficiency of alkaline phosphatase	ALPL	249	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110914	infantile hypophosphatasia Aliases: Hops phosphoethanolaminuria	ALPL	249	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110913	adult hypophosphatasia Aliases: mild hypophosphatasia	ALPL	249	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111031	hemochromatosis type 5 Aliases: FTH1-associated iron overload FTH1-related iron overload HFE5	FTH1	2495	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080493	ovarian dysgenesis 1	FSHR	2492	Homo sapiens (human)	Alliance of Genome Resources
DOID:14450	46 XX gonadal dysgenesis Aliases: ovarian dysgenesis	FSHR NUP107	2492 57122	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090088	hypogonadotropic hypogonadism 24 without anosmia Aliases: isolated follicle-stimulating hormone deficiency	FSHB	2488	Homo sapiens (human)	Alliance of Genome Resources
DOID:13938	amenorrhea Aliases: absence of menstruation amenia	FSHB	2488	Homo sapiens (human)	Alliance of Genome Resources
DOID:8411	kidney angiomyolipoma Aliases: Angiomyolipoma of kidney renal Angiomyolipoma	MTOR	2475	Homo sapiens (human)	Alliance of Genome Resources
DOID:2797	idiopathic interstitial pneumonia Aliases: Diffuse idiopathic pulmonary fibrosis Idiopathic fibrosing alveolitis	ICAM1 IL6 KEAP1 MTOR	2475 3383 3569 9817	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110555	autosomal dominant nonsyndromic deafness 25 Aliases: DFNA25 autosomal dominant deafness 25	SLC17A8	246213	Homo sapiens (human)	Alliance of Genome Resources
DOID:9784	trichinosis Aliases: Trichinella spiralis infection	SLC17A8	246213	Homo sapiens (human)	Alliance of Genome Resources

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