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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 **5801 - 5825** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism
DOID:0050461	aspartylglucosaminuria Aliases: aspartylglucosaminidase deficiency aspartylglycosaminuria glycosylasparaginase deficiency	AGA CHIT1 CTSA CYP21A2 FUCA1 GLB1 HPRT1 MAN2B1 NEU1	1118 1589 175 2517 2720 3251 4125 4758 5476	Homo sapiens (human)
DOID:14500	fucosidosis Aliases: A-fucosidase deficiency alpha fucosidase deficiency	AGA CHIT1 CTSA CYP21A2 FUCA1 GLB1 HPRT1 MAN2B1 NEU1	1118 1589 175 2517 2720 3251 4125 4758 5476	Homo sapiens (human)
DOID:3410	carotid artery thrombosis	ACE ARSA ART4 CD14 CD74 CHIT1 CYP2C19 FCGR3B KL LIPC LPL PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PLA2G7 SACM1L SMUG1 ST8SIA4 TM7SF2 VCAM1	1118 1557 1636 2215 22908 23583 3990 4023 410 420 5130 5290 5291 5293 5294 7108 7412 7903 7941 929 9365 972	Homo sapiens (human)
DOID:4029	gastritis Aliases: Erosive Gastritis Erosive gastropathy acute gastric mucosal erosion	A4GNT ACE CAT CD177 CD44 CHIT1 CYP2C19 CYP2C9 FCER2 FCGR3B FUT2 FUT4 HPGDS ICAM1 IL18R1 LCT LGALS1 LYZ MDH2 NT5E PLCE1 PTGDS PTGS1 PTGS2 SELE SELL SIGLEC8 SIRT2 SMUG1 TNF UGT1A6 VTCN1	1118 1557 1559 1636 2208 2215 22933 23583 2524 2526 27181 27306 3383 3938 3956 4069 4191 4907 51146 51196 54578 57126 5730 5742 5743 6401 6402 7124 79679 847 8809 960	Homo sapiens (human)
DOID:3108	ascaridiasis	CAT CHIT1 CYP1A1 SIGLEC1	1118 1543 6614 847	Homo sapiens (human)
DOID:456	ascariasis Aliases: Ascariasis - roundworm	CAT CHIT1 CYP1A1 SIGLEC1	1118 1543 6614 847	Homo sapiens (human)
DOID:12053	cryptococcosis Aliases: Busse-Buschke's disease European cryptococcosis cryptococcal infection torula torulosis	ATP6V0A2 CD44 CHIA CHIT1 CLEC6A CLEC7A CYP51A1 FBP1 FCGR3B HACD1 HK2 ICAM1 LGALS3 MIOX MPI PCK1 PLB1 PRKAA2 SLC35A2 SMUG1 SOAT1 UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9	1118 151056 1595 2203 2215 23545 23583 27159 3099 3383 3958 4351 5105 54575 54576 54577 54578 54579 54600 54657 54658 54659 55586 5563 56886 64581 6646 7355 9200 93978 960	Homo sapiens (human)
DOID:0070113	Niemann-Pick disease type C1 Aliases: NPC1	CALR CD22 CHIT1 CPT1A FASN FCER2 FCN2 GBA1 GBA2 GNPDA2 GPC1 LGALS9 LIPA NPC1 PIK3CA SMPD1 ST3GAL5 UGCG	1118 132789 1374 2194 2208 2220 2629 2817 3965 3988 4864 5290 57704 6609 7357 811 8869 933	Homo sapiens (human)
DOID:13078	eumycotic mycetoma Aliases: Madura foot Maduromycosis, mycotic Mycotic mycetoma eumycetoma maduromycosis	CHIT1 COMT CYP2B6	1118 1312 1555	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:13809	familial combined hyperlipidemia Aliases: familial multiple lipoprotein-type hyperlipidemia hyperbetalipoproteinemia with prebetalipoproteinemia mixed hyperlipidaemia type IIb hyperlipoproteinemia	ACE ALPL CHIT1 CYP7A1 LCAT LIPC LPL LYPLA2 PNPLA2 SCD SELP SIGLEC7	1118 11313 1581 1636 249 27036 3931 3990 4023 57104 6319 6403	Homo sapiens (human)
DOID:13580	cholestasis Aliases: Obstruction of bile duct bile occlusion	ACE ADH1A ADH5 AKR1D1 ALDH1B1 ALG8 ALPP AMACR ATRNL1 BAAT CAT CD14 CD44 CHIT1 COG6 CYP17A1 CYP1A2 CYP27A1 CYP2B6 CYP2C19 CYP2C9 CYP3A4 CYP3A5 CYP7A1 CYP7B1 CYP8B1 DCN DGAT2 DLAT ERLEC1 FH G6PD GGT1 HADHA HADHB HAO2 HJV HOGA1 HSD17B4 HSD3B7 ICAM1 LIPA LYZ MBOAT1 NPL PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G2A PLA2G6 PRKAA1 PRKAA2 PTGDS PYGM SLC17A5 SULT1E1 SULT2B1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A6 UGT1A7 UGT1A8 UGT2B4 VCAM1	1118 112817 124 128 148738 154141 1544 1555 1557 1559 1576 1577 1581 1582 1586 1593 1634 1636 1737 219 2271 23600 250 2539 26033 26503 2678 27248 3030 3032 3295 3383 3988 4069 51179 5290 5291 5293 5294 5319 5320 54575 54576 54577 54578 54657 54658 54659 5562 5563 570 5730 57511 5837 6718 6783 6820 7363 7412 79053 80270 80896 8398 84649 847 929 9420 960	Homo sapiens (human)
DOID:639	acute disseminated encephalomyelitis Aliases: ADEM acute disseminated encephalitis	CHI3L1	1116	Homo sapiens (human)
DOID:13664	post-vaccinal encephalitis Aliases: Encephalitis following immunization procedures Postvaccinal encephalomyelitis	CHI3L1	1116	Homo sapiens (human)
DOID:4252	Alexander disease Aliases: Alexander's disease	CD38 CHI3L1	1116 952	Homo sapiens (human)
DOID:0111168	sepiapterin reductase deficiency Aliases: DRD due to SRD SPR deficiency SRD dopa-responsive dystonia due to sepiapterin reductase deficiency	CHI3L1 MCEE	1116 84693	Homo sapiens (human)
DOID:0050685	small cell carcinoma Aliases: Small cell carcinoma - intermediate cell Small cell carcinoma, intermediate cell intermediate cell small cell carcinoma	CHI3L1 TNF	1116 7124	Homo sapiens (human)
DOID:9201	lichen planus Aliases: Lichen, ruber planus lichen ruber planus	CAT CHI3L1 PTGS2 VCAM1	1116 5743 7412 847	Homo sapiens (human)
DOID:0050433	fatal familial insomnia	CHI3L1 MDH1 PRNP	1116 4190 5621	Homo sapiens (human)
DOID:0060098	osteoblastoma	APRT CHI3L1	1116 353	Homo sapiens (human)
DOID:3753	Hermansky-Pudlak syndrome	CHI3L1 LGALS3 PI4K2A SFTPA1 SFTPC SLC35D3	1116 340146 3958 55361 6440 653509	Homo sapiens (human)
DOID:10606	blind loop syndrome Aliases: Bacterial overgrowth syndrome	CHI3L1 ICAM1 PLA2G7	1116 3383 7941	Homo sapiens (human)
DOID:9230	pompholyx Aliases: Cheiropompholyx DYSHYDROTIC ECZEMA Vesicular eczema of hands and/or feet dyshidrosis	ANXA5 CHI3L1 CYP4F3 ELOVL7 IDH1 IDH2 IDH3B IL1RL2 KLRB1 SULT1E1	1116 308 3417 3418 3420 3820 4051 6783 79993 8808	Homo sapiens (human)
DOID:2282	hidradenitis Aliases: Hydradenitis	ANXA5 CHI3L1 CYP4F3 ELOVL7 IDH1 IDH2 IDH3B IL1RL2 KLRB1 SULT1E1	1116 308 3417 3418 3420 3820 4051 6783 79993 8808	Homo sapiens (human)
DOID:2280	hidradenitis suppurativa Aliases: Acne inversa, familial	ANXA5 CHI3L1 CYP4F3 ELOVL7 IDH1 IDH2 IDH3B IL1RL2 KLRB1 SULT1E1 TNF	1116 308 3417 3418 3420 3820 4051 6783 7124 79993 8808	Homo sapiens (human)

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