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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
DisGeNET	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **926 - 950** of **4621** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0080483	peroxisome biogenesis disorder 8A Aliases: peroxisome biogenesis disorder 8A (Zellweger)	CAT G6PD	2539 847	Homo sapiens (human)
DOID:0080484	peroxisome biogenesis disorder 10A Aliases: peroxisome biogenesis disorder 10A (Zellweger)	AGA	175	Homo sapiens (human)
DOID:0080488	mucolipidosis	GNPTAB NEU1	4758 79158	Homo sapiens (human)
DOID:0080489	GM1 gangliosidosis type 3 Aliases: adult-onset GM1 gangliosidosis	GLB1	2720	Homo sapiens (human)
DOID:0080490	mucolipidosis type IV	HEXA	3073	Homo sapiens (human)
DOID:0080491	cerebral cavernous malformation 1	ACE B3GAT1 CEACAM5 CHI3L1 CYP2B6 GLO1 ICAM1 NCAM1 PTEN PTGIS PTGS2 STS	1048 1116 1555 1636 27087 2739 3383 412 4684 5728 5740 5743	Homo sapiens (human)
DOID:0080492	leukocyte adhesion deficiency 2	DHCR7 DLD FUT4 SLC35C1	1717 1738 2526 55343	Homo sapiens (human)
DOID:0080501	GM1 gangliosidosis type 2 Aliases: juvenile GM1 gangliosidosis	GLB1	2720	Homo sapiens (human)
DOID:0080502	GM1 gangliosidosis type 1	ARSA CHIT1 CTSA CYP2U1 GLB1 NEU1	1118 113612 2720 410 4758 5476	Homo sapiens (human)
DOID:0080505	Cornelia de Lange syndrome 1	ARSD GALNT14 SMC3 TNKS	414 79623 8658 9126	Homo sapiens (human)
DOID:0080506	Cornelia de Lange syndrome 2	SMC3	9126	Homo sapiens (human)
DOID:0080507	Cornelia de Lange syndrome 3 Aliases: CDLS3 Cornelia De Lange syndrome 3 with or without midline brain defects	SMC3	9126	Homo sapiens (human)
DOID:0080508	Cornelia de Lange syndrome 4 Aliases: CDLS4 Cornelia De Lange syndrome 4 with or without midline brain defects	EXT1	2131	Homo sapiens (human)
DOID:0080510	epidermolysis bullosa simplex localized type Aliases: epidermolysis bullosa simplex Weber-Cockayne type	GALK1	2584	Homo sapiens (human)
DOID:0080512	Meier-Gorlin syndrome 1	ACHE CLEC7A COMT CYP4F3 FASN LYZ PIK3CA PIK3CG PLA2G4A PLCB1	1312 2194 23236 4051 4069 43 5290 5294 5321 64581	Homo sapiens (human)
DOID:0080520	Tn polyagglutination syndrome Aliases: galactosyltransferase deficiency	B3GLCT C1GALT1 C1GALT1C1	145173 29071 56913	Homo sapiens (human)
DOID:0080521	lung non-squamous non-small cell carcinoma Aliases: non- squamous NSCLC	PIK3CA PIK3CB PIK3CD PIK3CG	5290 5291 5293 5294	Homo sapiens (human)
DOID:0080522	thyroid gland anaplastic carcinoma Aliases: anaplastic thyroid carcinoma	ACACA BCKDHB CAT CD1D CD44 CDH13 CLC CYP19A1 CYP24A1 CYP27B1 FDPS FUCA1 GAA GLO1 GPI HK2 ICAM1 IDH1 IDH2 IL18R1 KLB KLRK1 L1CAM LDHA LGALS3 MMUT PGD PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKM PTEN PTGS2 SCD TKT ULBP2	1012 1178 152831 1588 1591 1594 2224 22914 2517 2548 2739 2821 3099 31 3383 3417 3418 3897 3939 3958 4594 5226 5290 5291 5293 5294 5310 5315 5728 5743 594 6319 7086 80328 847 8809 912 960	Homo sapiens (human)
DOID:0080523	adult-onset leukoencephalopathy with axonal spheroids and pigmented glia Aliases: hereditary diffuse leukoencephalopathy with spheroids	CTSA	5476	Homo sapiens (human)
DOID:0080525	differentiated thyroid gland carcinoma	CD44 CNTN5 CNTN6 CYP24A1 CYP27B1 CYP2R1 GGT1 GPI GPX3 L1CAM LGALS1 LGALS3 NCAM1 NEIL3 PARP1 PIGU PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGDS PTGS2 RENBP SDHD SMUG1 TKTL1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A6 UGT1A7 UGT1A8	120227 128869 142 1591 1594 23583 2678 27255 2821 2878 3897 3956 3958 4684 5290 5291 5293 5294 53942 54575 54576 54577 54578 54657 54658 54659 55247 5728 5730 5743 5973 6392 8277 960	Homo sapiens (human)
DOID:0080531	dedifferentiated liposarcoma	CALR ENPP2 FASN KL PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PSMD10 PTEN SDC1 STS	142 2194 412 5168 5290 5291 5293 5294 5716 5728 6382 811 9365	Homo sapiens (human)
DOID:0080533	Carney-Stratakis syndrome	SDHB SDHC SDHD	6390 6391 6392	Homo sapiens (human)
DOID:0080534	myxofibrosarcoma Aliases: fibromyxoid sarcoma	CD44 CHSY1 DCN	1634 22856 960	Homo sapiens (human)
DOID:0080537	hypermanganesemia with dystonia 2	SLC39A14	23516	Homo sapiens (human)
DOID:0080540	galactosialidosis	CTSA GLB1 HPRT1 NEU1	2720 3251 4758 5476	Homo sapiens (human)

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