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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 **8976 - 9000** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▼
DOID:0111140	IGSF1 deficiency syndrome Aliases: CHTE X-linked central congenital hypothyroidism with late-onset macroorchidism X-linked central congenital hypothyroidism with late-onset testicular enlargement central hypothyroidism and testicular enlargement	Igsf1	302822	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111139	mitochondrial complex III deficiency	Uqcrfs1	291103	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111139	mitochondrial complex III deficiency	UQCRFS1	7386	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111138	congenital generalized lipodystrophy type 4 Aliases: Berardinelli-Seip congenital lipodystrophy type 4 with muscular dystrophy congenital generalised lipodystrophy type 4 generalised congenital lipodystrophy type 4 generalised congenital lipodystrophy with myopathy generalized congenital lipodystrophy type 4 generalized congenital lipodystrophy with myopathy	CAVIN1	284119	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111138	congenital generalized lipodystrophy type 4 Aliases: Berardinelli-Seip congenital lipodystrophy type 4 with muscular dystrophy congenital generalised lipodystrophy type 4 generalised congenital lipodystrophy type 4 generalised congenital lipodystrophy with myopathy generalized congenital lipodystrophy type 4 generalized congenital lipodystrophy with myopathy	Cavin1	19285	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111136	congenital generalized lipodystrophy type 2 Aliases: Berardinelli-Seip congenital lipodystrophy type 2 Berardinelli-Seip syndrome Brunzell syndrome BSCL2-related CGL2 congenital lipoatrophic diabetes total lipodystrophy and acromegaloid gigantism	BSCL2 PPARG	26580 5468	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111136	congenital generalized lipodystrophy type 2 Aliases: Berardinelli-Seip congenital lipodystrophy type 2 Berardinelli-Seip syndrome Brunzell syndrome BSCL2-related CGL2 congenital lipoatrophic diabetes total lipodystrophy and acromegaloid gigantism	Bscl2 Pparg	14705 19016	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111136	congenital generalized lipodystrophy type 2 Aliases: Berardinelli-Seip congenital lipodystrophy type 2 Berardinelli-Seip syndrome Brunzell syndrome BSCL2-related CGL2 congenital lipoatrophic diabetes total lipodystrophy and acromegaloid gigantism	Bscl2 Pparg	25664 361722	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111135	congenital generalized lipodystrophy type 1 Aliases: Berardinelli-Seip Congenital Lipodystrophy, Type 1 Brunzell syndrome AGPAT2-related	AGPAT2	10555	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111134	focal segmental glomerulosclerosis 9 Aliases: FSGS9	CRB2	286204	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111134	focal segmental glomerulosclerosis 9 Aliases: FSGS9	Crb2	241324	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111133	focal segmental glomerulosclerosis 8 Aliases: FSGS8	ANLN	54443	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111133	focal segmental glomerulosclerosis 8 Aliases: FSGS8	Anln	68743	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111131	focal segmental glomerulosclerosis 6 Aliases: FSGS6	MYO1E	4643	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111130	focal segmental glomerulosclerosis 5 Aliases: FSGS5	Inf2	70435	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111130	focal segmental glomerulosclerosis 5 Aliases: FSGS5	INF2	64423	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111129	focal segmental glomerulosclerosis 2 Aliases: FSGS2	TRPC6	7225	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111129	focal segmental glomerulosclerosis 2 Aliases: FSGS2	Trpc6	22068	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111128	focal segmental glomerulosclerosis 1 Aliases: FSGS1	acn-1	180780	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0111128	focal segmental glomerulosclerosis 1 Aliases: FSGS1	ace	100144634	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0111128	focal segmental glomerulosclerosis 1 Aliases: FSGS1	ACE ACTN1 ACTN2 ACTN4	1636 81 87 88	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111128	focal segmental glomerulosclerosis 1 Aliases: FSGS1	Acer Ance	34189 34805	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111128	focal segmental glomerulosclerosis 1 Aliases: FSGS1	Ace Actn2 Actn3 Actn4 Plaur	11421 11472 11474 18793 60595	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111128	focal segmental glomerulosclerosis 1 Aliases: FSGS1	Ace	24310	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111128	focal segmental glomerulosclerosis 1 Aliases: FSGS1	ace	565980	Danio rerio (zebrafish)	Alliance of Genome Resources

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