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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 **3551 - 3575** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0112050	non-syndromic X-linked intellectual disability 63 Aliases: ACSL4-related intellectual disability MRX63 MRX68 X-linked mental retardation 63 X-linked mental retardation 68	ACSL3 ACSL4	2181 2182	Homo sapiens (human)	Alliance of Genome Resources
DOID:5577	gastrinoma Aliases: Gastrin Secreting tumor Gastrin cell tumour malignant gastrinoma	CD44 CHGA PYGM SIGLEC7 SLC2A2	1113 27036 5837 6514 960	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0080001	bone disease	ACAN ACE ALDH7A1 ALPL ALPP ATP6V0A2 ATRNL1 B3GALT6 B3GAT1 B4GALT7 CD22 CEACAM5 CHI3L1 COL9A2 CTNS CYP24A1 CYP3A5 DCN ENPP1 EXT1 EXT2 FDPS GLB1 GLO1 GPNMB GPX1 HPRT1 IDUA IL1R1 INPPL1 KL KLRB1 MGLL PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKD2 PLOD3 PNPLA2 SCP2 SDC1 SLC2A10 SOAT1 SPHK2	10457 1048 1116 11285 11343 126792 1298 1497 1577 1591 1634 1636 176 2131 2132 2224 23545 249 250 26033 27087 2720 2739 2876 3251 3425 3554 3636 3820 501 5130 5167 5290 5291 5293 5294 5310 5311 56848 57104 6342 6382 6646 81031 8985 933 9365	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0110133	Bardet-Biedl syndrome 11 Aliases: BBS11	INPP5E PIGX	54965 56623	Homo sapiens (human)	DisGeNET
DOID:0110344	osteogenesis imperfecta type 5 Aliases: OI5 osteogenesis imperfecta type V	ALPL BAAT CD38 CD44 DCN PNPLA2 PTGS2 SMPD3	1634 249 55512 570 57104 5743 952 960	Homo sapiens (human)	DisGeNET
DOID:0050789	tarsal-carpal coalition syndrome	ABO ALOX5 CD44 CDH13 CYB5R3 GAPDH GLB1 HPGDS MRC1 NEU1 PLAUR PRSS8 PTEN PTGS2 TM7SF2 TNKS UPP2	1012 151531 1727 240 2597 2720 27306 28 4360 4758 5329 5652 5728 5743 7108 8658 960	Homo sapiens (human)	DisGeNET
DOID:10159	osteonecrosis Aliases: Avascular necrosis of bone aseptic necrosis bone necrosis	ACE ALDH2 ARSB CAT CD14 CYP2C8 EXT1 EXT2 GBA1 KL LRP5	1558 1636 2131 2132 217 2629 4041 411 847 929 9365	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0110957	Gaucher's disease type I Aliases: Acid Beta-Glucosidase Deficiency GD I GD1 Gaucher Disease, Noncerebral Juvenile Gba Deficiency Glucocerebrosidase Deficiency	ACE CHIT1 GBA1 GBA3 PAFAH1B1 PSAP UGCG	1118 1636 2629 5048 5660 57733 7357	Homo sapiens (human)	Glyco-Disease Genes Database DisGeNET DisGeNET Alliance of Genome Resources
DOID:0060158	acquired metabolic disease	PNPLA2 PNPLA3	57104 80339	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050879	fragile X-associated tremor/ataxia syndrome Aliases: FXTAS syndrome	IGF2R PLA2G2A PLB1	151056 3482 5320	Homo sapiens (human)	DisGeNET
DOID:0110556	autosomal dominant nonsyndromic deafness 27 Aliases: DFNA27 autosomal dominant deafness 27	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PSAP TECTA	135228 146183 220074 22856 25839 340990 410 50 51 5660 7007	Homo sapiens (human)	DisGeNET
DOID:3457	invasive lobular carcinoma Aliases: Lobular carcinoma Lobular carcinoma of breast Lobular carcinoma of the breast	CD44 IDH1 PIK3CA PLAUR PTGS2 PYGM	3417 5290 5329 5743 5837 960	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0080092	myofibrillar myopathy 1 Aliases: autosomal recessive limb-girdle muscular dystrophy type 2R desminopathy	ACE ACHE AGL APRT B3GALNT2 B4GALNT2 B4GAT1 CHKA CHKB CRPPA DAG1 DCN DPEP1 DPM1 DPM2 DPM3 ENO1 FKRP FKTN GK GLB1 GMPPB HPGDS IDH2 IMPA1 INPP5B INPP5K LARGE1 LARGE2 LGALS3 MBL2 MGAM MTM1 PARP1 PIK3C2A PMM2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRG2 RXYLT1 SDC2 SDHB SI SORD SYNJ1 SYNJ2	10329 10585 11041 1119 1120 120071 124872 142 148789 1605 1634 1636 178 1800 2023 2218 2710 2720 27306 29925 29954 3418 353 3612 3633 3958 4153 43 4534 51763 5286 5373 54344 5553 55624 56983 6383 6390 6476 6652 729920 79147 84197 84892 8813 8818 8867 8871 8972 9215	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0110232	cataract 29 Aliases: cataract 29 coralliform	AGK ALDH7A1 CRYL1 CYP27A1 GALK1 GCNT2 GPC5 INPP5K LSS OCRL PTEN SLC33A1 SORD	1593 2262 2584 2651 4047 4952 501 51084 51763 55750 5728 6652 9197	Homo sapiens (human)	DisGeNET
DOID:0060368	Parkinson's disease 2 Aliases: autosomal recessive juvenile Parkinson disease 2 autosomal recessive juvenile Parkinson's disease 2	CNTN5 CNTN6 GBA1 PARP1 SYNJ1	142 2629 27255 53942 8867	Homo sapiens (human)	DisGeNET
DOID:0050456	Buruli ulcer disease Aliases: Bairnsdale ulcer Daintree ulcer Mossman ulcer Searl ulcer Searle's ulcer	LTA4H	4048	Homo sapiens (human)	DisGeNET
DOID:3369	Ewing sarcoma Aliases: Ewing's family localized tumor Ewing's sarcoma/peripheral primitive neuroectodermal tumor Ewing's tumor Ewings sarcoma Ewings sarcoma-primitive neuroectodermal tumor PNET of Thoracopulmonary Region localized Ewing sarcoma localized Ewing's sarcoma localized Ewing's sarcoma/peripheral primitive neuroectodermal tumor localized Ewing's tumor localized peripheral primitive neuroectodermal tumor peripheral primitive neuroectodermal tumor	ABO ACSS2 AMACR ASAH1 B3GAT1 CD248 CD38 CEACAM5 CHGA CYP2C8 ENO2 GAPDH HMMR HPRT1 KLRK1 LDHA MRC1 MTAP NAMPT NCAM1 NPL PAFAH1B1 PARP1 PGP PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PTEN PTGS2 SMUG1 XYLT2	10135 1048 1113 142 1558 2026 22914 23583 23600 23659 2597 27087 28 283871 3161 3251 3939 427 4360 4507 4684 5048 5290 5291 5293 5294 55902 57124 5728 5743 64132 80896 952	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:10646	schizotypal personality disorder	COMT	1312	Homo sapiens (human)	DisGeNET DisGeNET
DOID:2994	germ cell cancer Aliases: malignant tumor of the germ cell	ACE AKR1C1 AKR1C3 ALPP AMACR ATRNL1 CALR CD44 CLEC10A CYP19A1 DHDH GFRA1 GOLPH3 GPC3 HPGDS IDH1 IDH2 LGALS3 LIPG LPL PARP1 PCYT1A PIGF PIK3CA PIK3CB PIK3CD PIK3CG PRSS21 PSMD10 PTEN SLC2A3 SMUG1 TDG TKTL1	10462 10942 142 1588 1636 1645 23583 23600 250 26033 2674 2719 27294 27306 3417 3418 3958 4023 5130 5281 5290 5291 5293 5294 5716 5728 64083 6515 6996 811 8277 8644 9388 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:14269	suppurative cholangitis	CLEC16A FUT2 GAL3ST2 ICAM1 IL18R1 IL1R1 INPP5A MANBA MGLL PLA2G10 PLA2G2A PLA2G2D SMUG1 STS	11343 23274 23583 2524 26279 3383 3554 3632 412 4126 5320 64090 8399 8809	Homo sapiens (human)	DisGeNET DisGeNET
DOID:9827	radioulnar synostosis	ALDH2 B3GAT3 B4GALT7 CHST3 COLEC10 COLEC11 EXT1 EXT2 HSPG2 MASP1 PIK3CA PRKAA2 SMC3 UMOD XYLT1	10584 11285 2131 2132 217 26229 3339 5290 5563 5648 64131 7369 78989 9126 9469	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:10461	dentin caries Aliases: Compound dental caries Dental caries extending into dentine	ACE AGA ALOX15 ALPL ATP6V0A2 ATP6V1A CALR CD14 COG6 COMT DAG1 FCN2 GALK2 GALNS GLB1 GLUL IDUA ITPKB LYZL2 MBL2 MTM1 MTMR3 OCRL PIGA PLA2G6 PSAP PTEN SGMS2 SLC2A2 SLC2A4 SRGN TMTC3	119180 1312 160418 1605 1636 166929 175 2220 23545 246 249 2585 2588 2720 2752 3425 3707 4153 4534 4952 523 5277 5552 5660 5728 57511 6514 6517 811 8398 8897 929	Homo sapiens (human)	DisGeNET DisGeNET
DOID:5688	Werner syndrome Aliases: WS Werner's syndrome adult premature ageing syndrome adult progeria	ACAN ACE ALPL APRT CAT CD55 CYP27A1 DCN ENOSF1 EXT1 FDPS G6PD GCK GGT1 GLO1 GUSB ICAM1 KL NEIL1 OGG1 PARP1 PLA2R1 PLB1 PRKAA2 PRPS1 SIRT2 SIRT6 SLC35G1	142 151056 1593 159371 1604 1634 1636 176 2131 2224 22925 22933 249 2539 2645 2678 2739 2990 3383 353 4968 51548 55556 5563 5631 79661 847 9365	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:5812	MHC class II deficiency Aliases: BLSII SCID due to absent class II HLA antigens bare lymphocyte syndrome type II	AMACR CD38 CEACAM5 CEACAM7 CYP2J2 EXTL3 FUT1 GPC5 HPSE IL18R1 LDHC LGALS1 MELTF NCAM1 NT5E PARP1 PDHX PGM3 PIK3CA PIK3CB PIK3CD PIK3CG PNP PTEN PTGS2 SOAT1 SRGN	1048 10855 1087 142 1573 2137 2262 23600 2523 3948 3956 4241 4684 4860 4907 5238 5290 5291 5293 5294 5552 5728 5743 6646 8050 8809 952	Homo sapiens (human)	DisGeNET DisGeNET
DOID:12377	spinal muscular atrophy	ACHE ALPI ALPP ARSF ASAH1 CALR CANX CAT CHODL CNTN1 FCN2 FUT1 GAPDH GM2A HEXA HEXB HSPG2 KDSR LGALS3 PGK1 PRNP PTEN PTGS2	1272 140578 2220 248 250 2523 2531 2597 2760 3073 3074 3339 3958 416 427 43 5230 5621 5728 5743 811 821 847	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources

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