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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 **12701 - 12725** of **15957** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:3191	nemaline myopathy Aliases: Nemaline body disease nemaline rod myopathy rod body disease rod myopathy	Actb Actc1 Neb	11461 11464 17996	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3191	nemaline myopathy Aliases: Nemaline body disease nemaline rod myopathy rod body disease rod myopathy	Actb Tnnt2	24837 81822	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:3192	neurilemmoma Aliases: Psammomatous schwannoma schwannoma	kdr	554230	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:3192	neurilemmoma Aliases: Psammomatous schwannoma schwannoma	Kdr Pecam1 Serpine1 Snca	24617 25589 29219 29583	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:3192	neurilemmoma Aliases: Psammomatous schwannoma schwannoma	ATAD5 KDR PECAM1 SERPINE1 SIX1 SNCA	3791 5054 5175 6495 6622 79915	Homo sapiens (human)	Alliance of Genome Resources
DOID:3192	neurilemmoma Aliases: Psammomatous schwannoma schwannoma	Atad5 Kdr Pecam1 Snca	16542 18613 20617 237877	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3192	neurilemmoma Aliases: Psammomatous schwannoma schwannoma	srp-3 ver-1 ver-4	175182 178672 186632	Caenorhabditis elegans	Alliance of Genome Resources
DOID:3193	peripheral nerve sheath neoplasm Aliases: neoplasm of the nerve Sheath nerve sheath tumour	LATS2	26524	Homo sapiens (human)	Alliance of Genome Resources
DOID:3204	schwannomatosis Aliases: SWN neurilemmomatosis neurinomatosis	SNF5	852592	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:3204	schwannomatosis Aliases: SWN neurilemmomatosis neurinomatosis	COQ6 SMARCB1	51004 6598	Homo sapiens (human)	Alliance of Genome Resources
DOID:3209	junctional epidermolysis bullosa Aliases: congenital junctional epidermolysis bullosa	COL17A1 ITGA3 ITGA6 ITGB4 LAMA3 LAMB3 LAMC2	1308 3655 3675 3691 3909 3914 3918	Homo sapiens (human)	Alliance of Genome Resources
DOID:3209	junctional epidermolysis bullosa Aliases: congenital junctional epidermolysis bullosa	Col17a1 Itga3 Itga6 Itgb4 Lama3 Lamb3 Lamc2	12821 16400 16403 16774 16780 16782 192897	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3209	junctional epidermolysis bullosa Aliases: congenital junctional epidermolysis bullosa	Itgbn LanA LanB2 mew	32275 35368 38723 39118	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:3209	junctional epidermolysis bullosa Aliases: congenital junctional epidermolysis bullosa	Itgb4	25724	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:3209	junctional epidermolysis bullosa Aliases: congenital junctional epidermolysis bullosa	epi-1 ina-1 lam-1 lam-2	176296 177292 177956 180980	Caenorhabditis elegans	Alliance of Genome Resources
DOID:321	tropical spastic paraparesis Aliases: HTLV-associated myelopathy Tropical spastic paralysis Tropical spastic paraplegia	W01F3.2 zmp-4	179991 180351	Caenorhabditis elegans	Alliance of Genome Resources
DOID:321	tropical spastic paraparesis Aliases: HTLV-associated myelopathy Tropical spastic paralysis Tropical spastic paraplegia	C3 CTLA4 HLA-DQB1 HNRNPA1 IFNL1 IL21 KLRK1 MMP2 NFKB1 TNFRSF18 ZEB1	1493 22914 282618 3119 3178 4313 4790 59067 6935 718 8784	Homo sapiens (human)	Alliance of Genome Resources
DOID:321	tropical spastic paraparesis Aliases: HTLV-associated myelopathy Tropical spastic paralysis Tropical spastic paraplegia	C3 Il21 Klrk1 Mmp2	24232 24934 365769 81686	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:321	tropical spastic paraparesis Aliases: HTLV-associated myelopathy Tropical spastic paralysis Tropical spastic paraplegia	C3 Ctla4 Foxp3 H2-Ab1 Hnrnpa1 Ifnl2 Il21 Il27 Klrk1 Mmp2 Nfkb1 Tnfrsf18	12266 12477 14961 15382 17390 18033 20371 21936 246779 27007 330496 60505	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3210	Pelizaeus-Merzbacher disease Aliases: HLD1 Leukodystrophy, sudanophilic PMD Pelizaeus Merzbacher brain sclerosis Pelizaeus-Merzbacher brain sclerosis diffuse familial brain sclerosis hypomyelinating leukodystrophy 1 sudanophilic leukodystrophy, Paelizeus-Merzbacher type	PLP1	5354	Homo sapiens (human)	Alliance of Genome Resources
DOID:3210	Pelizaeus-Merzbacher disease Aliases: HLD1 Leukodystrophy, sudanophilic PMD Pelizaeus Merzbacher brain sclerosis Pelizaeus-Merzbacher brain sclerosis diffuse familial brain sclerosis hypomyelinating leukodystrophy 1 sudanophilic leukodystrophy, Paelizeus-Merzbacher type	Plp1	18823	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3211	lysosomal storage disease Aliases: disorder of lysosomal enzyme inborn lysosomal enzyme disorder lysosomal storage metabolism disorder	Aga Hexb Psap Slc17a5 Slc66a1	25524 290923 294673 362642 363103	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:3211	lysosomal storage disease Aliases: disorder of lysosomal enzyme inborn lysosomal enzyme disorder lysosomal storage metabolism disorder	R04B3.2 ctsa-1.1 ctsa-1.2 ctsa-3.1 ctsa-4.1 gana-1 hex-1 laat-1 slc-17.2	173818 174057 174189 174802 176317 179660 180533 180550 3565323	Caenorhabditis elegans	Alliance of Genome Resources
DOID:3211	lysosomal storage disease Aliases: disorder of lysosomal enzyme inborn lysosomal enzyme disorder lysosomal storage metabolism disorder	AGA CTSA GGA2 GGA3 GLA HEXB MITF PSAP PSAPL1 SLC17A5 SLC66A1 TFE3 TFEB VPS16	175 23062 23163 26503 2717 3074 4286 5476 54896 5660 64601 7030 768239 7942	Homo sapiens (human)	Alliance of Genome Resources
DOID:3211	lysosomal storage disease Aliases: disorder of lysosomal enzyme inborn lysosomal enzyme disorder lysosomal storage metabolism disorder	Aga Ctsa Gga3 Gla Hexb Mitf Psap Psapl1 Slc17a5 Slc66a1 Tfe3	11593 11605 15212 17342 19025 19156 209446 212555 235504 260302 76943	Mus musculus (house mouse)	Alliance of Genome Resources

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