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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 **2776 - 2800** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism
DOID:3320	Tay-Sachs disease Aliases: GM2 gangliosidosis, type 1 hexosaminidase A deficiency	Hexo1 Hexo2 fdl	250735 31808 38528	Drosophila melanogaster (fruit fly)
DOID:12377	spinal muscular atrophy	Hexo1 Hexo2 fdl	250735 31808 38528	Drosophila melanogaster (fruit fly)
DOID:3323	Sandhoff disease Aliases: Sandhoff Jatzkewitz disease	Hexo1 Hexo2 fdl	250735 31808 38528	Drosophila melanogaster (fruit fly)
DOID:0110196	Charcot-Marie-Tooth disease type 4G Aliases: CMT4G Charcot-Marie-Tooth neuropathy type 4G HMSNR autosomal recessive Charcot-Marie-Tooth disease type 4G hereditary motor and sensory neuropathy Russe type	Hk1	25058	Rattus norvegicus (Norway rat)
DOID:10584	retinitis pigmentosa Aliases: pericentral pigmentary retinopathy	Hk1 Kl Pomgnt1	25058 362567 83504	Rattus norvegicus (Norway rat)
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: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: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:0080108	myoglobinuria	Pgam2	24959	Rattus norvegicus (Norway rat)
DOID:11664	nephrosclerosis Aliases: renal sclerosis	Adrb1	24925	Rattus norvegicus (Norway rat)
DOID:0110915	childhood hypophosphatasia	ALPL	249	Homo sapiens (human)
DOID:0070086	schizophrenia 10 Aliases: SCZD10	ALPL CERK	249 64781	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: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:3308	embryonal carcinoma Aliases: primary extragonadal embryonal carcinoma	ALPL FUT4 PSMD10 PTEN	249 2526 5716 5728	Homo sapiens (human)
DOID:0110914	infantile hypophosphatasia Aliases: Hops phosphoethanolaminuria	ALPL ALPP ATRNL1	249 250 26033	Homo sapiens (human)
DOID:0110913	adult hypophosphatasia Aliases: mild hypophosphatasia	ALPL ALPP ATRNL1	249 250 26033	Homo sapiens (human)
DOID:14213	hypophosphatasia Aliases: deficiency of alkaline phosphatase	ALDH7A1 ALPL ALPP ATRNL1 PIGT	249 250 26033 501 51604	Homo sapiens (human)
DOID:11151	cholecystolithiasis	Ugt1a1	24861	Rattus norvegicus (Norway rat)
DOID:2739	Gilbert syndrome Aliases: Constitutional hyperbilirubinemia Gilbert's disease Gilbert's syndrome Gilbert-Meulengracht syndrome hereditary nonhemolytic jaundice	Ugt1a1	24861	Rattus norvegicus (Norway rat)
DOID:8692	myeloid leukemia Aliases: Non-Lymphocytic Leukemia leukaemia myelogenous leukemia myelogenous myeloid granulocytic leukaemia myeloid granulocytic leukemia myeloid leukaemia	Ugt1a1	24861	Rattus norvegicus (Norway rat)
DOID:2741	bilirubin metabolic disorder Aliases: hereditary hyperbilirubinemia hyperbilirubinemia	Ugt1a1	24861	Rattus norvegicus (Norway rat)
DOID:10211	cholelithiasis	Ugt1a1	24861	Rattus norvegicus (Norway rat)

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