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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 **2326 - 2350** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▲
DOID:0060875	isolated growth hormone deficiency type III Aliases: Fleisher syndrome IGHD III X-linked IGHD X-linked agammaglobulinemia and isolated growth hormone deficiency X-linked hypogammaglobulinemia and isolated growth hormone deficiency X-linked isolated growth hormone deficiency congenital IGHD type III congenital isolated GH deficiency type III congenital isolated growth hormone deficiency type III growth hormone deficiency with hypogammaglobulinemia	BTK	695	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060877	bullous congenital ichthyosiform erythroderma Aliases: bullous type ichthyosis ichthyosis bullosa of Siemens superficial epidermolytic ichthyosis	KRT2	3849	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060877	bullous congenital ichthyosiform erythroderma Aliases: bullous type ichthyosis ichthyosis bullosa of Siemens superficial epidermolytic ichthyosis	Krt2	16681	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060878	hypoparathyroidism-deafness-renal disease syndrome Aliases: Barakat syndrome HDR syndrome hypoparathyroidism, sensorineural deafness, and renal disease	GATA3	2625	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060879	primary hypomagnesemia Aliases: HOMG primary familial hypomagnesemia	EGF OSGEP	1950 55644	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060879	primary hypomagnesemia Aliases: HOMG primary familial hypomagnesemia	Egf	25313	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060879	primary hypomagnesemia Aliases: HOMG primary familial hypomagnesemia	Egf	13645	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060882	renal hypomagnesemia 4 Aliases: HOMG4	Egf	13645	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060882	renal hypomagnesemia 4 Aliases: HOMG4	EGF	1950	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060882	renal hypomagnesemia 4 Aliases: HOMG4	Egf	25313	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060883	intestinal hypomagnesemia 1 Aliases: HOMG1 hypomagnesemia caused by selective magnesium malabsorption hypomagnesemia intestinal type 1 hypomagnesemic tetany intestinal hypomagnesemia with secondary hypocalcemia primary hypomagnesemia with secondary hypocalcemia	TRPM6	140803	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060884	renal hypomagnesemia 6 Aliases: HOMG6	CNNM2	54805	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060884	renal hypomagnesemia 6 Aliases: HOMG6	Cnnm2	94219	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060884	renal hypomagnesemia 6 Aliases: HOMG6	uex	5740320	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060884	renal hypomagnesemia 6 Aliases: HOMG6	cnnm-1 cnnm-3	178499 180591	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0060884	renal hypomagnesemia 6 Aliases: HOMG6	Cnnm2	294014	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060887	ossification of the posterior longitudinal ligament of spine Aliases: OPLL	NPP1 NPP2	850391 856699	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0060887	ossification of the posterior longitudinal ligament of spine Aliases: OPLL	Enpp1	85496	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060887	ossification of the posterior longitudinal ligament of spine Aliases: OPLL	dpp	33432	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060887	ossification of the posterior longitudinal ligament of spine Aliases: OPLL	Bmp4 Enpp1	12159 18605	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060887	ossification of the posterior longitudinal ligament of spine Aliases: OPLL	C27A7.3 dbl-1 enpp-1	179068 179663 179665	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0060887	ossification of the posterior longitudinal ligament of spine Aliases: OPLL	bmp4.S	399322	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0060887	ossification of the posterior longitudinal ligament of spine Aliases: OPLL	BMP4 ENPP1	5167 652	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060889	prune belly syndrome Aliases: Eagle-Barret syndrome Obrisnksy syndrome abdominal muscle deficiency syndrome	Chrm3	12671	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060889	prune belly syndrome Aliases: Eagle-Barret syndrome Obrisnksy syndrome abdominal muscle deficiency syndrome	gar-3	179962	Caenorhabditis elegans	Alliance of Genome Resources

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