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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 **1101 - 1125** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:3382	liposarcoma Aliases: lipomatous cancer	CALR CD38 CPM ENPP2 FASN GPNMB KL NANS PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PNPLA2 PNPLA3 PSMD10 PTEN SDC1 SMUG1 STS	10457 1368 142 2194 23583 412 5168 5290 5291 5293 5294 54187 57104 5716 5728 6382 80339 811 9365 952	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:5695	childhood liposarcoma Aliases: pediatric liposarcoma	CPM FASN GPNMB PIK3CA PIK3CB PIK3CD PIK3CG PNPLA2 PNPLA3 PTEN SDC1 SMUG1 STS	10457 1368 2194 23583 412 5290 5291 5293 5294 57104 5728 6382 80339	Homo sapiens (human)	DisGeNET
DOID:5693	adult liposarcoma	CPM FASN GPNMB PIK3CA PIK3CB PIK3CD PIK3CG PNPLA2 PNPLA3 PTEN SDC1 SMUG1 STS	10457 1368 2194 23583 412 5290 5291 5293 5294 57104 5728 6382 80339	Homo sapiens (human)	DisGeNET
DOID:0111228	Sveinsson chorioretinal atrophy Aliases: HPCD SCRA atrophia areata helicoid peripapillary chorioretinal degeneration peripapillary chorioretinal degeneration, Icelandic type	CAT CYP1B1 CYP2C19 ENO2 GAD1 GPNMB GPX3 IDS IGF2R MRC1 PIK3CA PIK3CD PIK3CG RPE	10457 1545 1557 2026 2571 2878 3423 3482 4360 5290 5293 5294 6120 847	Homo sapiens (human)	DisGeNET
DOID:1067	open-angle glaucoma Aliases: Wide-angle glaucoma glaucoma simplex open angle glaucoma pigmentary glaucoma	ABO ACE AKR1B1 ALDH7A1 CD38 CYP1B1 DGKD GMDS GPNMB PLCE1 PMM2 PTGDS PTGS2 TNF	10457 1545 1636 231 2762 28 501 51196 5373 5730 5743 7124 8527 952	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:3021	acute kidney failure	ACE ALOX5 BAD CD44 CYP27B1 CYP2C19 CYP2C9 CYP2E1 DGKE EPHX2 G6PD GPNMB GPX3 HEXB HPRT1 ICAM1 LGALS3 LPIN1 PKD2 PTGS2 TLR4 UGT1A1 UGT1A9	10457 1557 1559 1571 1594 1636 2053 23175 240 2539 2878 3074 3251 3383 3958 5311 54600 54658 572 5743 7099 8526 960	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:3388	periodontal disease Aliases: disease of supporting structures of teeth periodontium disorder	ACE ALOX5 AMY1A AMY1B AMY1C CAT CD14 FCGR3B GPNMB IL18R1 LGALS9 LYZ MBL2 PNP PTGS2 RECK SELL SLC2A4 SMPD1 VCAM1	10457 1636 2215 240 276 277 278 3965 4069 4153 4860 5743 6402 6517 6609 7412 8434 847 8809 929	Homo sapiens (human)	DisGeNET
DOID:0060680	pigment dispersion syndrome Aliases: glaucoma-related pigment dispersion syndrome pigment-dispersion type glaucoma	ABO ALDH7A1 CD38 GPNMB PTGDS	10457 28 501 5730 952	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0080932	primary localized cutaneous amyloidosis 3 Aliases: Amyloidosis cutis dyschromica	GPNMB	10457	Homo sapiens (human)	Alliance of Genome Resources
DOID:14443	cholinergic urticaria	CEACAM5 CLEC10A MGLL	10462 1048 11343	Homo sapiens (human)	DisGeNET
DOID:4873	anterior horn cell disease	ACHE APRT ASAH1 CAT CLEC10A DAG1 FCN2 FIG4 GAL3ST1 GFRA1 HEXB HK2 MTMR4 NT5E OGA PNPLA6 SARM1 SLC35A1 TIGAR TMED9	10462 10559 10724 10908 1605 2220 23098 2674 3074 3099 353 427 43 4907 54732 57103 847 9110 9514 9896	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:231	motor neuron disease	ACHE APRT ASAH1 CAT CLEC10A FCN2 FIG4 GAL3ST1 GFRA1 HEXB HK2 NT5E OGA PNPLA6 SARM1 SLC35A1 TIGAR TMED9	10462 10559 10724 10908 2220 23098 2674 3074 3099 353 427 43 4907 54732 57103 847 9514 9896	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:230	lateral sclerosis Aliases: adult-onset primary lateral sclerosis primary lateral sclerosis	ACHE APRT ASAH1 CAT CLEC10A FCN2 FIG4 GAL3ST1 GFRA1 HEXB HK2 NT5E OGA PNPLA6 SARM1 SLC35A1 TIGAR TMED9	10462 10559 10724 10908 2220 23098 2674 3074 3099 353 427 43 4907 54732 57103 847 9514 9896	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:5823	childhood lymphoma Aliases: pediatric lymphoma	ABO ACE ACOX1 ACSF3 ALOX12 ALPI ALPP ANXA5 CAT CD14 CD1D CD22 CD33 CD38 CD44 CD48 CD55 CD74 CEL CHGA CLEC10A CNTN2 COMT CYP17A1 CYP1A1 ENO2 ENOSF1 EPM2A FCER2 FCGR3B FH FMOD G6PD GBA1 GLB1 GPI GPX1 HEXA HMMR HPGDS HYAL2 ICAM1 IDH1 IDH2 IL1R1 IL1RL1 INPP4B INPP5D ISYNA1 KLRC1 KLRD1 KLRK1 LGALS1 LGALS3 LY6K MCAT MLYCD MRC1 MTAP NCAM1 NDUFAB1 NT5E PARP9 PIK3CA PIK3CB PIK3CD PIK3CG PNP PPP1R3A PTEN PTGDS PTGES PTGS2 RTN4R SLC27A5 SLC2A3 SLC35A2 SLC35B2 SMC3 SMUG1 SOAT1 SPHK2 STS SULT1E1 TIGAR TMTC3 TNFRSF10C VCAM1 VTCN1	10462 1056 10998 1113 1312 1543 1586 1604 160418 1636 197322 2026 2208 2215 2271 22914 2331 23417 23583 239 248 250 2539 2629 2720 27306 27349 28 2821 2876 3073 308 3161 3383 3417 3418 347734 3554 3635 3821 3824 3956 3958 412 4360 4507 4684 4706 4860 4907 51 51477 5290 5291 5293 5294 54742 5506 55556 56848 57103 5728 5730 5743 65078 6515 6646 6783 6900 7355 7412 7957 79679 83666 847 8692 8794 8821 912 9126 9173 929 933 945 952 9536 960 962 972	Homo sapiens (human)	DisGeNET
DOID:999	hypereosinophilic syndrome Aliases: Eosinophilic leukocytosis eosinophilia	ACOT7 CD1D CEL CLEC10A CYP2C19 ETNK1 EXTL3 HPGDS HS2ST1 HSPG2 ICAM1 IL18R1 IL1RL1 LGALS9 LPCAT1 MBL2 NDST1 PARP1 PARP9 PGM3 PLA2G5 PTEN PTGDS PTGS2 SDC2 SELL SFTPA2 SFTPD SIGLEC8 SLC27A5 TNFRSF10C VCAM1	10462 1056 10998 11332 142 1557 2137 27181 27306 3339 3340 3383 3965 4153 5238 5322 55500 5728 5730 5743 6383 6402 6441 729238 7412 79888 83666 8794 8809 912 9173 9653	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:14717	centronuclear myopathy Aliases: myotubular myopathy	ACHE B4GAT1 CD38 CHAT CHKB CLEC10A CYP19A1 FKRP FKTN GFPT1 GMPPB HACD1 IDS LARGE1 MTM1 MTMR14 MTMR1 MTMR2 MTMR6 MTMR7 MTMR8 OVGP1 POMGNT1 POMT1 SIRT4 SLC2A4	10462 10585 1103 11041 1120 1588 2218 23409 2673 29925 3423 43 4534 5016 55613 55624 64419 6517 79147 8776 8898 9107 9108 9200 9215 952	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:422	congenital structural myopathy	ACHE B4GAT1 CD38 CHAT CHKB CLEC10A CYP19A1 FKRP FKTN GFPT1 GMPPB HACD1 IDS LARGE1 MTM1 MTMR14 MTMR1 MTMR2 OVGP1 POMGNT1 POMT1 SIRT4 SLC2A4	10462 10585 1103 11041 1120 1588 2218 23409 2673 29925 3423 43 4534 5016 55624 64419 6517 79147 8776 8898 9200 9215 952	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:2723	dermatitis Aliases: eczema skin inflammation	ABO ACADVL ACE ACHE AGXT AKR1C3 ALDH3A2 ALDH7A1 ALOX12B ALOX15 ALOX5 APRT ARSH ASGR1 CALR CAT CD109 CD14 CD44 CD48 CD55 CD74 CERS3 CERS4 CHGA CHI3L1 CHST3 CLEC10A CLEC16A CLEC7A COL9A2 CYP24A1 CYP27A1 CYP27B1 CYP2R1 DHCR7 ELOVL1 ELOVL3 ELOVL6 ENO1 FADS1 FADS2 FAR1 FAR2 FCER2 FDFT1 FUT2 FUT7 GLB1 GLUL HAS3 HPGDS HPSE HSD11B1 ICAM1 ICAM5 IL18R1 IL1R1 IL1RL1 IL1RL2 INPP5D ITLN1 LCLAT1 LGALS1 LGALS3 LGALS9 LPIN2 MBL2 MGLL MRC1 NAAA NPL OGA PARP1 PCCA PCCB PGD PGM3 PIGX PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G2E PLA2G4A PLA2G4D PLA2G7 PLAUR PLB1 PLCB3 PLD3 POFUT1 PTGDS PTGS2 SDC1 SELE SELP SIGLEC7 SLC17A5 SLC2A2 SLC35D1 SLC35G1 SLC39A8 SOAT1 SRD5A3 STS TMTC2 TNF TPI1 UGT1A9 VCAM1	10462 10724 10855 1113 1116 11343 120227 1298 135228 142 151056 1591 1593 159371 1594 160335 1604 1636 1717 189 2023 204219 2208 2222 224 23169 23274 23509 23646 240 242 246 2524 2529 253558 26503 27036 27163 2720 27306 2752 28 283748 3038 30814 3290 3383 347527 353 3554 3635 37 3956 3958 3965 3992 412 4153 43 432 4360 501 5095 5096 5226 5238 5290 5291 5293 5294 5319 5321 5329 5331 54600 54965 55600 55711 5730 5743 6382 6401 6403 64116 64581 64834 6514 6646 7087 7124 7167 7412 79071 7941 79603 79644 80896 811 83401 84188 847 8644 8808 8809 9173 929 9415 9469 960 962 9663 972	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0060193	amyotrophic lateral sclerosis type 1 Aliases: ALS1 amyotrophic lateral sclerosis 1	ACACA ACHE ALG1 ALPI ALPP APRT ASAH1 CAT CHI3L1 CLEC10A CNTN4 CYP27A1 FCN2 FIG4 GFRA1 GPX1 HEXB HK2 INPP4B MASP1 NT5E OGA OPCML OTOG PNPLA6 RTN4R SARM1 SLC17A5 SLC33A1 TIGAR TMED9	10462 10724 10908 1116 152330 1593 2220 23098 248 250 26503 2674 2876 3074 3099 31 340990 353 427 43 4907 4978 54732 56052 5648 57103 65078 847 8821 9197 9896	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0111064	autosomal recessive distal hereditary motor neuronopathy 1 Aliases: DSMA1 SIANRF SMARD1 autosomal recessive distal spinal muscular atrophy 1 autosomal recessive spinal muscular atrophy with respiratory distress dHMN6 diaphragmatic spinal muscular atrophy distal hereditary motor neuropathy type 6 distal spinal muscular atrophy 1 distal-HMN type 6 severe infantile axonal neuropathy with respiratory failure type 1 spinal muscular atrophy with respiratory distress type 1	ACHE APRT ASAH1 CAT CLEC10A FCN2 FIG4 FUT4 GFRA1 HEXB HK2 NT5E OGA PNPLA6 SARM1 TIGAR TMED9	10462 10724 10908 2220 23098 2526 2674 3074 3099 353 427 43 4907 54732 57103 847 9896	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0060194	amyotrophic lateral sclerosis type 2 Aliases: ALS2 amyotrophic lateral sclerosis 2 amyotrophic lateral sclerosis 2, juvenile	ACHE APRT ASAH1 CAT CLEC10A FCN2 FIG4 GFRA1 HEXB HK2 NT5E OGA PNPLA6 SARM1 TIGAR TMED9	10462 10724 10908 2220 23098 2674 3074 3099 353 427 43 4907 54732 57103 847 9896	Homo sapiens (human)	DisGeNET
DOID:0060196	amyotrophic lateral sclerosis type 4 Aliases: ALS 4 amyotrophic lateral sclerosis 4 amyotrophic lateral sclerosis 4, juvenile dHMN with upper motor neuron signs distal hereditary motor neuropathy with pyramidal features distal hereditary motor neuropathy with upper motor neuron signs	ACHE APRT ASAH1 CAT CLEC10A FCN2 FIG4 GFRA1 HEXB HK2 NT5E OGA PNPLA6 SARM1 TIGAR TMED9	10462 10724 10908 2220 23098 2674 3074 3099 353 427 43 4907 54732 57103 847 9896	Homo sapiens (human)	DisGeNET
DOID:3310	atopic dermatitis Aliases: Atopic neurodermatitis Besnier's prurigo allergic dermatitis atopic eczema	ABO AKR1C3 ALDH7A1 ALOX12B CD14 CD1D CD48 CD55 CERS3 CERS4 CHI3L1 CHST3 CHST8 CLEC10A CLEC16A CLEC7A CYP1A1 CYP24A1 CYP27A1 CYP27B1 ELOVL3 ELOVL6 ENO1 FADS2 FAR2 FCER2 GLB1 HAS3 HPGDS HSD11B1 ICAM1 IL18R1 IL1R1 IL1RL1 ITLN1 LGALS1 MBL2 MGLL NAAA NPL OGA PGD PGM3 PLA2G1B PLA2G2E PLA2G4D PLAUR PLB1 PLD3 PTGDS PTGS2 SELE SELP SIGLEC7 SLC2A2 SLC35G1 SMPD2 SOAT1 TLR2 TLR4 TNF TPI1 UGT1A9 VCAM1 VNN1 VNN2	10462 10724 1116 11343 151056 1543 1591 1593 159371 1594 1604 2023 204219 2208 23274 23646 242 27036 27163 2720 27306 28 283748 3038 30814 3290 3383 3554 3956 4153 501 5226 5238 5319 5329 54600 55600 55711 5730 5743 6401 6403 64377 64581 6514 6610 6646 7097 7099 7124 7167 7412 79071 79603 80896 83401 8644 8809 8875 8876 912 9173 929 9415 9469 962	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:2722	acrodermatitis	ACE AGA AGXT AKR1C3 ALDH3A2 ALDH7A1 ALOX5 APRT ARSH ASGR1 CALR CAT CD109 CD44 CD74 CERS3 CHI3L1 CLEC10A COL9A2 COMT ELOVL1 ELOVL6 FDFT1 HPGDS HPSE ICAM1 IL1R1 IL1RL2 LGALS3 LGALS9 MBL2 MRC1 NAAA PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G4A PLAUR PLCB3 POFUT1 PTGDS PTGS2 SDC1 SLC17A5 SOAT1 VCAM1	10462 10855 1116 1298 1312 135228 142 1636 175 189 204219 2222 224 23509 240 26503 27163 27306 3383 347527 353 3554 3958 3965 4153 432 4360 501 5290 5291 5293 5294 5319 5321 5329 5331 5730 5743 6382 64834 6646 7412 79071 811 847 8644 8808 960 972	Homo sapiens (human)	DisGeNET 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

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