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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 **7326 - 7350** of **15957** in total

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Disease ID ▼	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0112277	immunodeficiency 79 Aliases: IMD79	Cd4	12504	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112277	immunodeficiency 79 Aliases: IMD79	CD4	920	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112276	neurodevelopmental disorder with involuntary movements Aliases: NEDIM	Gnao1	14681	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112275	developmental and epileptic encephalopathy 93 Aliases: DEE93 IECEE3 infantile or early childhood epileptic encephalopathy 3	ATP6V1A	523	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112275	developmental and epileptic encephalopathy 93 Aliases: DEE93 IECEE3 infantile or early childhood epileptic encephalopathy 3	Atp6v1a	11964	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112275	developmental and epileptic encephalopathy 93 Aliases: DEE93 IECEE3 infantile or early childhood epileptic encephalopathy 3	st6gal2	407846	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0112274	X-linked spermatogenic failure 3 Aliases: SPGFX3	CFAP47	286464	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112271	spermatogenic failure 49 Aliases: SPGF98	CFAP58	159686	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112268	nephrotic syndrome type 22 Aliases: NPHS22	Nos1ap	192363	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0112266	nephrotic syndrome type 23 Aliases: NPHS23	syg-1	180555	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0112266	nephrotic syndrome type 23 Aliases: NPHS23	Kirrel1	170643	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112266	nephrotic syndrome type 23 Aliases: NPHS23	Kirrel1	310695	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0112266	nephrotic syndrome type 23 Aliases: NPHS23	kirre rst	31290 31292	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0112266	nephrotic syndrome type 23 Aliases: NPHS23	KIRREL1	55243	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112265	iminoglycinuria	acs path	38264 39106	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0112263	hypoinsulinemic hypoglycemia with hemihypertrophy Aliases: HIHGHH hypoinsulinemic hypoglycemia and body hemihypertrophy	Akt2	25233	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0112263	hypoinsulinemic hypoglycemia with hemihypertrophy Aliases: HIHGHH hypoinsulinemic hypoglycemia and body hemihypertrophy	akt2.L akt2.S	379783 432172	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0112263	hypoinsulinemic hypoglycemia with hemihypertrophy Aliases: HIHGHH hypoinsulinemic hypoglycemia and body hemihypertrophy	AKT2	208	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112263	hypoinsulinemic hypoglycemia with hemihypertrophy Aliases: HIHGHH hypoinsulinemic hypoglycemia and body hemihypertrophy	Akt2	11652	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112262	leucine-sensitive hypoglycemia of infancy Aliases: LIH leucine-induced hypoglycemia	Abcc8	25559	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0112262	leucine-sensitive hypoglycemia of infancy Aliases: LIH leucine-induced hypoglycemia	ABCC8	6833	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112262	leucine-sensitive hypoglycemia of infancy Aliases: LIH leucine-induced hypoglycemia	YBT1	850678	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0112262	leucine-sensitive hypoglycemia of infancy Aliases: LIH leucine-induced hypoglycemia	Abcc8	20927	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112259	Leydig cell hypoplasia Aliases: 46,XY DSD due to LH resistance or LHB deficiency 46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency 46,XY disorder of sex development due to LH resistance or LHB deficiency 46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency	Lhcgr	25477	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0112259	Leydig cell hypoplasia Aliases: 46,XY DSD due to LH resistance or LHB deficiency 46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency 46,XY disorder of sex development due to LH resistance or LHB deficiency 46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency	LHCGR	3973	Homo sapiens (human)	Alliance of Genome Resources

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