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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 **6051 - 6075** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism
DOID:0080240	non-syndromic X-linked intellectual disability 106 Aliases: MRX106 X-linked mental retardation 106	sxc	35486	Drosophila melanogaster (fruit fly)
DOID:5339	cyclic hematopoiesis Aliases: Cyclic neutropenia Cyclical neutropenia Neutropenia, periodic cyclic agranulocytosis	CALR G6PC3 IL1R1 PNP PRKAA2 PTGS2 SLC35A2	3554 4860 5563 5743 7355 811 92579	Homo sapiens (human)
DOID:11121	pulpitis Aliases: pulp stones	IL18R1 IL1R1 SIRT6 TLR4	3554 51548 7099 8809	Homo sapiens (human)
DOID:6227	articular cartilage disease	IL1R1	3554	Homo sapiens (human)
DOID:0070436	hyperphosphatasia with impaired intellectual development syndrome 4 Aliases: GPIBD62 HPMRS6 glycosylphosphatidylinositol biosynthesis defect 62 hyperphosphatasia with mental retardation syndrome 6	PGAP3	35570	Drosophila melanogaster (fruit fly)
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	Pgant1 Pgant3	35627 36717	Drosophila melanogaster (fruit fly)
DOID:219	colon cancer	hst-3.2	3564879	Caenorhabditis elegans
DOID:14735	hereditary angioedema Aliases: HANE Hereditary angioneurotic edema	hst-3.2	3564879	Caenorhabditis elegans
DOID:1324	lung cancer	hst-3.2	3564879	Caenorhabditis elegans
DOID:0112315	brain small vessel disease 3 Aliases: BSVD3	D2045.9	3565069	Caenorhabditis elegans
DOID:0080596	hyper IgE recurrent infection syndrome 4	IL6ST	3572	Homo sapiens (human)
DOID:9266	cystinuria	Mal-A1 Mal-A2 Mal-A3	35824 35825 35826	Drosophila melanogaster (fruit fly)
DOID:13359	Ehlers-Danlos syndrome Aliases: Cutis hyperelastica elastic skin	Plod beta3GalTII beta4GalT7	35848 39265 42991	Drosophila melanogaster (fruit fly)
DOID:0050802	Ehlers-Danlos syndrome spondylodysplastic type 2 Aliases: EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 Ehlers-Danlos syndrome progeroid type	beta3GalTII	35848	Drosophila melanogaster (fruit fly)
DOID:0112198	spondyloepimetaphyseal dysplasia with joint laxity type 1 Aliases: SEMDJL1 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	beta3GalTII	35848	Drosophila melanogaster (fruit fly)
DOID:9952	acute lymphoblastic leukemia Aliases: ALL acute lymphoblastic leukaemia acute lymphocytic leukaemia precursor lymphoblastic lymphoma/leukemia	Hex-t2 Pgi	35886 43191	Drosophila melanogaster (fruit fly)
DOID:589	congenital hemolytic anemia Aliases: congenital hemolytic anaemia hereditary hemolytic anaemia hereditary hemolytic anemia	Pgi	35886	Drosophila melanogaster (fruit fly)
DOID:440	neuromuscular disease	Pgi	35886	Drosophila melanogaster (fruit fly)
DOID:0080563	congenital disorder of glycosylation Ik Aliases: congenital disorder of glycosylation 1k	Alg1	360475	Rattus norvegicus (Norway rat)
DOID:0014667	disease of metabolism Aliases: metabolic disease	Ldh Pfk PyK	36060 42620 45880	Drosophila melanogaster (fruit fly)
DOID:11721	glycogen storage disease VII Aliases: Glycogen storage disease 7 Glycogen storage disease, type VII Muscle phosphofructokinase deficiency glycogen storage disease type VII phosphofructokinase myopathy	Pfk	36060	Drosophila melanogaster (fruit fly)
DOID:0070311	oligoasthenoteratozoospermia Aliases: OAT oligoasthenoteratospermia	Spata20	360604	Rattus norvegicus (Norway rat)
DOID:0070468	Yoon-Bellen neurodevelopmental syndrome Aliases: YOBELN	Ogdh	360975	Rattus norvegicus (Norway rat)
DOID:0081326	oxoglutarate dehydrogenase deficiency Aliases: Oxoglutaric aciduria alpha-ketoglutarate dehydrogenase deficiency	Ogdh	360975	Rattus norvegicus (Norway rat)
DOID:0080567	congenital disorder of glycosylation Ip Aliases: congenital disorder of glycosylation 1p	Alg11	361174	Rattus norvegicus (Norway rat)

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