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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 **14501 - 14525** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▼
DOID:0060249	scoliosis	ADAMTS9 FBN1 FBN2 FGFR3 MMP1 PTK7 TBX6 TPH1	2200 2201 2261 4312 56999 5754 6911 7166	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060249	scoliosis	Sspo	474348	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060248	Simpson-Golabi-Behmel syndrome type 1 Aliases: DGSX Golabi-Rosen syndrome Golabi-Rosen syndrome SGB syndrome Sara Angers syndrome Simpson dysmorphia syndrome X-linked dysplasia gigantism syndrome bulldog syndrome	Gpc3	25236	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060248	Simpson-Golabi-Behmel syndrome type 1 Aliases: DGSX Golabi-Rosen syndrome Golabi-Rosen syndrome SGB syndrome Sara Angers syndrome Simpson dysmorphia syndrome X-linked dysplasia gigantism syndrome bulldog syndrome	Gpc3	14734	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060248	Simpson-Golabi-Behmel syndrome type 1 Aliases: DGSX Golabi-Rosen syndrome Golabi-Rosen syndrome SGB syndrome Sara Angers syndrome Simpson dysmorphia syndrome X-linked dysplasia gigantism syndrome bulldog syndrome	gpc3	387365	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0060248	Simpson-Golabi-Behmel syndrome type 1 Aliases: DGSX Golabi-Rosen syndrome Golabi-Rosen syndrome SGB syndrome Sara Angers syndrome Simpson dysmorphia syndrome X-linked dysplasia gigantism syndrome bulldog syndrome	dally	39013	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060248	Simpson-Golabi-Behmel syndrome type 1 Aliases: DGSX Golabi-Rosen syndrome Golabi-Rosen syndrome SGB syndrome Sara Angers syndrome Simpson dysmorphia syndrome X-linked dysplasia gigantism syndrome bulldog syndrome	GPC3	2719	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060247	Smith-McCort dysplasia	DYM RAB8B	51762 54808	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060247	Smith-McCort dysplasia	Rab8b	235442	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060246	MASA syndrome Aliases: CRASH syndrome Gareis-Mason syndrome L1 syndrome SPG1 X-linked complicated hereditary spastic paraplegia type 1 X-linked corpus callosum agenesis X-linked spastic paraplegia 1 hereditary spastic paraplegia 1	CHL1 L1CAM NFASC NRCAM TRPM1 TRPM3	10752 23114 3897 4308 4897 80036	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060246	MASA syndrome Aliases: CRASH syndrome Gareis-Mason syndrome L1 syndrome SPG1 X-linked complicated hereditary spastic paraplegia type 1 X-linked corpus callosum agenesis X-linked spastic paraplegia 1 hereditary spastic paraplegia 1	lad-2 sax-7	177078 177602	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0060246	MASA syndrome Aliases: CRASH syndrome Gareis-Mason syndrome L1 syndrome SPG1 X-linked complicated hereditary spastic paraplegia type 1 X-linked corpus callosum agenesis X-linked spastic paraplegia 1 hereditary spastic paraplegia 1	Chl1 L1cam Nfasc Nrcam Trpm1	12661 16728 17364 269116 319504	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060246	MASA syndrome Aliases: CRASH syndrome Gareis-Mason syndrome L1 syndrome SPG1 X-linked complicated hereditary spastic paraplegia type 1 X-linked corpus callosum agenesis X-linked spastic paraplegia 1 hereditary spastic paraplegia 1	L1cam Nfasc	116690 50687	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060246	MASA syndrome Aliases: CRASH syndrome Gareis-Mason syndrome L1 syndrome SPG1 X-linked complicated hereditary spastic paraplegia type 1 X-linked corpus callosum agenesis X-linked spastic paraplegia 1 hereditary spastic paraplegia 1	Nrg	31792	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060244	specific language impairment	CNTNAP2	26047	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060244	specific language impairment	Nrx-IV	39387	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060244	specific language impairment	nlr-1	178167	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0060244	specific language impairment	Cntnap2	66797	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060242	synpolydactyly Aliases: syndactyly type 2	HOXD13	3239	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060241	3-M syndrome Aliases: Le Merrer syndrome Miller-McKusick-Malvaux syndrome Yakut short stature syndrome dolichospondylic dysplasia gloomy face syndrome three M syndrome	CUL7 OBSL1	23363 9820	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060240	UV-sensitive syndrome	ERCC6	2074	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060240	UV-sensitive syndrome	csa-1	174474	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0060239	Van der Woude syndrome	Grhl3	230824	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060237	Warburg micro syndrome Aliases: WARBM Warburg-Sjo-Fledelius syndrome micro syndrome	Rab3gap2	98732	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060234	Carpenter syndrome Aliases: acrocephalopolysyndactyly type II	Megf8 Rab23	19335 269878	Mus musculus (house mouse)	Alliance of Genome Resources

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