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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 **3851 - 3875** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:255	hemangioma	MMP2 SLC2A1	4313 6513	Homo sapiens (human)	Alliance of Genome Resources
DOID:6195	conjunctivitis	C3 CFB MMP2 PLG PTAFR	4313 5340 5724 629 718	Homo sapiens (human)	Alliance of Genome Resources
DOID:8553	pyoderma gangrenosum	MMP2 MMP9	4313 4318	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080933	immunoglobulin light chain amyloidosis Aliases: AL amyloidosis Amyloidosis primary systemic Light chain amyloidosis Primary AL amyloidosis Primary systemic AL amyloidosis Primary systemic amyloidosis Systemic AL amyloidsis	MMP1 MMP2 MMP3	4312 4313 4314	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111745	cerebellar ataxia type 43 Aliases: SCA43	MME	4311	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110160	Charcot-Marie-Tooth disease axonal type 2T Aliases: AR-CMT2T CMT2T Charcot-Marie-Tooth neuropathy type 2T autosomal recessive axonal Charcot-Marie-Tooth disease type 2T	MME	4311	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110306	autosomal dominant limb-girdle muscular dystrophy type 3 Aliases: LGMD1G autosomal dominant limb-girdle muscular dystrophy type 1G muscular dystrophy limb-girdle type 1G	msi	43087	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110867	congenital stationary night blindness 1C Aliases: CSNB1C congenital stationary night blindness 1C autosomal recessive	TRPM1	4308	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060855	autosomal dominant pseudohypoaldosteronism type 1 Aliases: PHA1A autosomal dominant PHA 1	NR3C2	4306	Homo sapiens (human)	Alliance of Genome Resources
DOID:4479	pseudohypoaldosteronism	CUL3 NR3C2 SCNN1A SCNN1B SCNN1G WNK1 WNK2 WNK3	4306 6337 6338 6340 65125 65267 65268 8452	Homo sapiens (human)	Alliance of Genome Resources
DOID:9277	primary cerebellar degeneration	Sil1	43034	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080195	Marinesco-Sjogren syndrome Aliases: Garland-Moorhouse syndrome Marinesco-Garland syndrome Oligophrenic cerebellolenticular degeneration hereditary oligophrenic cerebello-lental degeneration	Sil1	43034	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080564	congenital disorder of glycosylation Il Aliases: congenital disorder of glycosylation 1l	Alg9	43031	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080573	congenital disorder of glycosylation Ix Aliases: congenital disorder of glycosylation 1x	Stt3B	43005	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:6088	acute stress disorder Aliases: traumatic stress disorder	ACHE	43	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080738	Ehlers-Danlos syndrome spondylodysplastic type 1	beta4GalT7	42991	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110342	osteogenesis imperfecta type 13 Aliases: OI13 osteogenesis imperfecta type XIII	tld tok	42944 42945	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:12347	osteogenesis imperfecta Aliases: Lobstein's syndrome Osteopsathyrosis Vrolik's disease brittle bone disease	tld tok	42944 42945	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110111	atrial heart septal defect 6 Aliases: ASD6 atrial septal defect 6	tld tok	42944 42945	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0081119	benign familial infantile seizures 6 Aliases: Autosomal dominant nocturnal frontal lobe epilepsy Benign Familial Infantile Seizures, 6 nocturnal frontal lobe epilepsy-4	nAChRbeta2	42920	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060685	autosomal dominant nocturnal frontal lobe epilepsy 4 Aliases: ENFL4 nocturnal frontal lobe epilepsy 4	nAChRbeta2	42920	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0070274	hereditary nonpolyposis colorectal cancer type 2 Aliases: COCA2 FCC2 HNPCC2 familial nonpolyposis colon cancer type 2	MLH1	4292	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050465	Muir-Torre syndrome	MLH1 MSH2	4292 4436	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060682	autosomal dominant nocturnal frontal lobe epilepsy 1 Aliases: ENFL1 nocturnal frontal lobe epilepsy 1	nAChRalpha2 nAChRbeta2	42919 42920	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060681	autosomal dominant nocturnal frontal lobe epilepsy Aliases: ENFL	nAChRalpha1 nAChRbeta2	42918 42920	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources

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