GlyCosmos Portal

Source	Last Updated
Alliance of Genome Resources	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **9401 - 9425** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0110923	familial hemophagocytic lymphohistiocytosis 3 Aliases: FHL3 HLH3 HPLH3	UNC13D	201294	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050387	nonpapillary renal cell carcinoma	FLCN	201163	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080218	primary spontaneous pneumothorax	FLCN	201163	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050676	Birt-Hogg-Dube syndrome	FLCN PRDM10	201163 56980	Homo sapiens (human)	Alliance of Genome Resources
DOID:3783	Coffin-Lowry syndrome	Rps6ka1	20111	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070356	visual impairment and progressive phthisis bulbi	MARK2 MARK3	2011 4140	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070246	X-linked Emery-Dreifuss muscular dystrophy 1 Aliases: EDMD1 EMD1 Emery-Dreifuss muscular dystrophy 1, X-linked humeroperoneal neuromuscular disease muscular dystrophy, tardive, Dreifuss-Emery type, with contractures scapuloperoneal syndrome, X-linked	EMD	2010	Homo sapiens (human)	Alliance of Genome Resources
DOID:11726	Emery-Dreifuss muscular dystrophy Aliases: EDMD	EMD HOOK1 LEMD2 LEMD3 LMNA LMNB1 LMNB2 SYNE1 SYNE2	2010 221496 23224 23345 23592 4000 4001 51361 84823	Homo sapiens (human)	Alliance of Genome Resources
DOID:8567	Hodgkin's lymphoma Aliases: HL Hodgkin disease Hodgkin lymphoma Hodgkin's sarcoma Hodgkins lymphoma stage I Subdiaphragmatic Hodgkin Lymphoma stage II Subdiaphragmatic Hodgkin Lymphoma	CD68 ICAM1 IL10 IL6 JUN JUNB KLHDC8B SDC1	200942 3383 3569 3586 3725 3726 6382 968	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070221	progressive familial intrahepatic cholestasis Aliases: PFIC; Byler disease	ATP10B SEMA7A SLC51A VPS33B ZFYVE19	200931 23120 26276 8482 84936	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110704	hypotrichosis 7 Aliases: Hypt7 Lah2 hypotrichosis, localized, autosomal recessive 2 total Mari type hypotrichosis,	LIPH	200879	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070130	autosomal dominant cutis laxa 1 Aliases: ADCL1	ELN	2006	Homo sapiens (human)	Alliance of Genome Resources
DOID:1929	supravalvular aortic stenosis Aliases: Supra-valvular aortic stenosis	CASQ2 ELN	2006 845	Homo sapiens (human)	Alliance of Genome Resources
DOID:3159	photosensitivity disease Aliases: Photodermatitis	BRD2 ELN	2006 6046	Homo sapiens (human)	Alliance of Genome Resources
DOID:8505	dermatitis herpetiformis Aliases: Dermatosis herpetiformis Duhring's disease	ELN LTA TNF VEGFA	2006 4049 7124 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:0002116	pterygium Aliases: surfer's eye	CAT ELN KDR MMP2 MMP9 OGG1 PECAM1 TP53 VEGFA VEGFC	2006 3791 4313 4318 4968 5175 7157 7422 7424 847	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080745	polymyositis	CCR2 CX3CL1 ELN HGF IFNG IL4 MMP9 PMS1 ROBO1 SLIT2 STAT4 TNFRSF1A TNFRSF1B	2006 3082 3458 3565 4318 5378 6091 6376 6775 7132 7133 729230 9353	Homo sapiens (human)	Alliance of Genome Resources
DOID:2738	pseudoxanthoma elasticum Aliases: Gronblad-Strandberg syndrome	ABCC6 CAT ELN ENPP1 GPX1 MMP2 SOD2 VEGFA XYLT1 XYLT2	2006 2876 368 4313 5167 64131 64132 6648 7422 847	Homo sapiens (human)	Alliance of Genome Resources
DOID:9810	polyarteritis nodosa	CX3CL1 ELN GDNF GFRA1 VEGFA	2006 2668 2674 6376 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111536	Buschke-Ollendorff syndrome Aliases: BOS dermatofibrosis lenticularis disseminata with osteopoikilosis dermatoosteopoikilosis disseminated dermatofibrosis with osteopoikilosis osteopathia condensans disseminata	ELN LEMD3	2006 23592	Homo sapiens (human)	Alliance of Genome Resources
DOID:10873	Kuhnt-Junius degeneration Aliases: Exudative senile macular degeneration of retina Neovascular age-related macular degeneration Senile macular degeneration, wet Wet senile macular retinal degeneration	ANXA5 APOE C3 CCL2 CCR2 CFI ELN FLT1 IGF1R IGFBP2 IL6 KDR LOXL1 NOS3 PDGFB PDGFRB PON1 SOD2 TLR2 TLR3 VEGFA	2006 2321 308 3426 348 3480 3485 3569 3791 4016 4846 5155 5159 5444 6347 6648 7097 7098 718 729230 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:3627	aortic aneurysm Aliases: ruptured aortic aneurysm	AOC3 ATP7A EFEMP2 ELN FBN1 HDAC4 PTGER4 SERPINE1 SPP1	2006 2200 30008 5054 538 5734 6696 8639 9759	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060448	Fleck corneal dystrophy Aliases: FCD Francois-Neetens speckled corneal dystrophy	PIKFYVE	200576	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090016	chromosome 5q deletion syndrome Aliases: 5q- syndrome, refractory macrocytic anemia due to 5q deletion myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality	Rps14	20044	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111614	autosomal recessive spinocerebellar ataxia 22 Aliases: SCAR22	VWA3B	200403	Homo sapiens (human)	Alliance of Genome Resources

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