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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 **3376 - 3400** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism
DOID:0110913	adult hypophosphatasia Aliases: mild hypophosphatasia	ALPL ALPP ATRNL1	249 250 26033	Homo sapiens (human)
DOID:3308	embryonal carcinoma Aliases: primary extragonadal embryonal carcinoma	ALPL FUT4 PSMD10 PTEN	249 2526 5716 5728	Homo sapiens (human)
DOID:0111063	hyperphosphatemic familial tumoral calcinosis Aliases: HFTC HHS PHPTC cortical hyperostosis with hyperphosphatemia familial Teutschlaender disease familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome hypercalcemic tumoral calcinosis hyperostosis with hyperphosphatemia hyperphosphatemia hyperostosis hyperphosphatemia hyperostosis syndrome hyperphosphatemia tumoral calcinosis lipocalcinogranulomatosis morbus Teutschlaender primary hyperphosphatemic tumoral calcinosis tumoral calcinosis with hyperphosphatemia	ALPL ANXA5 ENPP1 GALNT3 KL	249 2591 308 5167 9365	Homo sapiens (human)
DOID:0111353	arthrogryposis, renal dysfunction, and cholestasis 1 Aliases: ARCS1	ALPL GGT1	249 2678	Homo sapiens (human)
DOID:0050763	ARC syndrome Aliases: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome Arthrogryposis-renal dysfunction-cholestasis	ALPL GGT1	249 2678	Homo sapiens (human)
DOID:0070086	schizophrenia 10 Aliases: SCZD10	ALPL CERK	249 64781	Homo sapiens (human)
DOID:0110915	childhood hypophosphatasia	ALPL	249	Homo sapiens (human)
DOID:0111169	subcortical band heterotopia Aliases: HeCo band heterotopia double cortex syndrome heterotopic cortex subcortical laminar heterotopia	ALPP ATRNL1 OCRL PAFAH1B1 SLC17A5	250 26033 26503 4952 5048	Homo sapiens (human)
DOID:2717	Bloom syndrome Aliases: Bloom-Torre-Machacek syndrome Congenital Telangiectatic Erythema syndrome	ALPP APRT ATRNL1 CAT HPSE2 LCAT PKM PLAUR SCD UNG	250 26033 353 3931 5315 5329 60495 6319 7374 847	Homo sapiens (human)
DOID:9258	Waardenburg syndrome Aliases: Waardenburg Shah syndrome Waardenburg's syndrome van der Hoeve Halbertsona Waardenburg syndrome	ABO ALPP	250 28	Homo sapiens (human)
DOID:0110948	Waardenburg syndrome type 1 Aliases: WS1 Waardenburg syndrome type I	ABO ALPP	250 28	Homo sapiens (human)
DOID:12134	factor VIII deficiency Aliases: Congenital factor VIII disorder Hemophilia A Subhemophilia classic hemophilia A	ABO FUT1 G6PD GUSB HPSE2 LMAN1 MCFD2 MRC1 PRNP	2523 2539 28 2990 3998 4360 5621 60495 90411	Homo sapiens (human)
DOID:5378	hemoglobin D disease Aliases: Hb-D disease	ABO FUT1 G6PD NT5E SCD UGT1A1	2523 2539 28 4907 54658 6319	Homo sapiens (human)
DOID:2859	hemoglobin C disease Aliases: Hb-C disease	ABO FUT1 G6PD NT5E SCD UGT1A1	2523 2539 28 4907 54658 6319	Homo sapiens (human)
DOID:5379	hemoglobin E disease Aliases: Hb-E disease	ABO FUT1 G6PD NT5E SCD UGT1A1	2523 2539 28 4907 54658 6319	Homo sapiens (human)
DOID:0060705	X-linked lymphoproliferative syndrome 1 Aliases: XLP1	CD1D FUT1 HPGDS HPRT1 PLCG1	2523 27306 3251 5335 912	Homo sapiens (human)
DOID:0060222	Scheie syndrome Aliases: mucopolysaccharidosis type 1S mucopolysaccharidosis type IS mucopolysaccharidosis type V	ARSB CAT FUT1 IDUA	2523 3425 411 847	Homo sapiens (human)
DOID:628	combined T cell and B cell immunodeficiency Aliases: Congenital Combined Immunodeficiency	FUT1 IL18R1 PGK1 PGM3 PIK3CD PNP	2523 4860 5230 5238 5293 8809	Homo sapiens (human)
DOID:0111083	Fanconi anemia complementation group D2 Aliases: FA4 FAD2 FANCD2 Fanconi pancytopenia type 4	FUT1 NTHL1	2523 4913	Homo sapiens (human)
DOID:0060013	X-linked severe combined immunodeficiency Aliases: SCID-X1 XSCID gamma chain deficiency thymic epithelial hypoplasia	FUT1 IL18R1 PGK1	2523 5230 8809	Homo sapiens (human)
DOID:1085	Edwards syndrome Aliases: Complete trisomy 18 syndrome E3 Trisomy trisomy 18	CD38 FUT1	2523 952	Homo sapiens (human)
DOID:0060378	orofaciodigital syndrome VIII Aliases: OFD8	CD38 FUT1	2523 952	Homo sapiens (human)
DOID:10604	lactose intolerance Aliases: LM - Lactose malabsorption	FUT2 GLB1 LCT PGM3 SI	2524 2720 3938 5238 6476	Homo sapiens (human)
DOID:0050731	vitamin B12 deficiency Aliases: cobalamin deficiency hypocobalaminemia	CALR FUT2 GPX3	2524 2878 811	Homo sapiens (human)
DOID:5353	colonic disease Aliases: colon disorder	FUT2	2524	Homo sapiens (human)

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