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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 **1876 - 1900** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▲
DOID:0060602	alpha-methylacyl-CoA racemase deficiency Aliases: AMACR deficiency	AMACR	23600	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060603	isolated anhidrosis with normal sweat glands Aliases: Dann-Epstein-Sohar syndrome	ITPR2	3709	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060604	ankyloglossia Aliases: tongue-tie	Lgr5	299802	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060604	ankyloglossia Aliases: tongue-tie	LGR5	8549	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060604	ankyloglossia Aliases: tongue-tie	Lgr5	14160	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060604	ankyloglossia Aliases: tongue-tie	lgr5	100486389	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0060609	microcephalic osteodysplastic primordial dwarfism type II Aliases: Majewski osteodysplastic primordial dwarfism type II osteodysplastic primordial dwarfism type II	PCNT	5116	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060610	megacystis-microcolon-intestinal hypoperistalsis syndrome Aliases: Berdon syndrome Megacystis microcolon intestinal hypoperistalsis syndrome megacystis-microcolon-intestinal hypoperistalsis syndrome, MMIH visceral myopathy	mAChR-A	37892	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060610	megacystis-microcolon-intestinal hypoperistalsis syndrome Aliases: Berdon syndrome Megacystis microcolon intestinal hypoperistalsis syndrome megacystis-microcolon-intestinal hypoperistalsis syndrome, MMIH visceral myopathy	gar-3	179962	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0060610	megacystis-microcolon-intestinal hypoperistalsis syndrome Aliases: Berdon syndrome Megacystis microcolon intestinal hypoperistalsis syndrome megacystis-microcolon-intestinal hypoperistalsis syndrome, MMIH visceral myopathy	CHRM3 LMOD1 MYH11 MYL9 MYLK	10398 1131 25802 4629 4638	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060610	megacystis-microcolon-intestinal hypoperistalsis syndrome Aliases: Berdon syndrome Megacystis microcolon intestinal hypoperistalsis syndrome megacystis-microcolon-intestinal hypoperistalsis syndrome, MMIH visceral myopathy	Chrm3	24260	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060610	megacystis-microcolon-intestinal hypoperistalsis syndrome Aliases: Berdon syndrome Megacystis microcolon intestinal hypoperistalsis syndrome megacystis-microcolon-intestinal hypoperistalsis syndrome, MMIH visceral myopathy	Chrm3	12671	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060611	abdominal obesity-metabolic syndrome	VVS1	852543	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0060611	abdominal obesity-metabolic syndrome	DDX17 DDX5 GUCY2C LEP NEIL1 PPARG PPARGC1A SIRT3 SLC2A9	10521 10891 1655 23410 2984 3952 5468 56606 79661	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060611	abdominal obesity-metabolic syndrome	gcy-27	191654	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0060611	abdominal obesity-metabolic syndrome	Gucy2c Lep Neil1 Pparg Ppargc1a Prkci Slc2a9	117591 14917 16846 18759 19016 19017 72774	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060611	abdominal obesity-metabolic syndrome	Gucy2c Lep Pparg Ppargc1a	25608 25664 25711 83516	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060612	abdominal obesity-metabolic syndrome 3	mnb	32771	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060612	abdominal obesity-metabolic syndrome 3	Dyrk1b	13549	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060614	ulnar-mammary syndrome Aliases: Pallister ulnar-mammary syndrome Schinzel syndrome	Tbx3	21386	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060614	ulnar-mammary syndrome Aliases: Pallister ulnar-mammary syndrome Schinzel syndrome	TBX3	6926	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060639	permanent neonatal diabetes mellitus Aliases: PDMI PNDM permanent diabetes mellitus of infancy	Abcc8 Gck Ins1 Ins2 Kcnj11	24385 24505 24506 25559 83535	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060639	permanent neonatal diabetes mellitus Aliases: PDMI PNDM permanent diabetes mellitus of infancy	Hex-t1 Hex-t2	117364 43191	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060639	permanent neonatal diabetes mellitus Aliases: PDMI PNDM permanent diabetes mellitus of infancy	EMI2 GLK1 HXK1 HXK2 YBT1	850317 850614 850678 852128 852639	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0060639	permanent neonatal diabetes mellitus Aliases: PDMI PNDM permanent diabetes mellitus of infancy	ins	30262	Danio rerio (zebrafish)	Alliance of Genome Resources

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