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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 **4351 - 4375** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0110779	hereditary spastic paraplegia 28 Aliases: SPG28 autosomal recessive spastic paraplegia 28 autosomal recessive spastic paraplegia type 28	B4GALNT1 CYP2B6 CYP2U1 CYP39A1 CYP7B1 FAR1 GBA2 L1CAM MAG PCYT2 PLA2G6 PNPLA6 SELENOI SLC33A1 ST3GAL5	10908 113612 1555 2583 3897 4099 51302 57704 5833 8398 84188 85465 8869 9197 9420	Homo sapiens (human)	DisGeNET
DOID:4964	neurotic disorder Aliases: Neurotic depression reactive type Neurotic depressive state Psychoneurosis depressive neurosis neurosis neurotic depression reactive depression	ABAT ABO ACACA ACACB ACE ACHE ACOT7 ACOX1 ACSL4 ACSM1 ACSS2 ADH1B ADH1C AKR1A1 AKR1C2 AKR1C4 ALDH2 ALDH3A1 ALDH7A1 ALG8 ALOX5 ALPL AMACR AMT AMY1A AMY1B AMY1C ANXA4 APRT ARSA ARSD ARSG ARSI ATP6AP2 B3GALNT2 B3GAT1 BST1 CACNA2D1 CALR CAT CD38 CDH13 CHAT CHPF CHPT1 CLEC4E CNTN3 CNTN5 COL9A2 COMT CPT1A CRLS1 CS CSPG4 CYP19A1 CYP1A2 CYP27A1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP3A4 CYP46A1 DEGS1 DGKB DGKG DGKH DHDDS DLD EDEM1 ENO2 EPM2A FADS1 FADS2 FDPS FIG4 GAD1 GAD2 GALC GBA1 GLA GLO1 GLT8D1 GLUL GOLPH3 GPC6 GPI GPX1 HACD3 HPGDS HPSE HS6ST1 HSD11B1 ICAM1 IDS IDUA IL1R1 IMPA2 INPP5K INPPL1 KL L1CAM LDHA LGALS1 LGALS3 LIPA LMAN2L LPGAT1 LTA4H M6PR MAG MAN1B1 MBOAT7 MCAT MDGA1 MDGA2 MDH2 ME1 MPG MPI MUTYH NANS NCAM1 NCAN NDST1 NDST3 NEIL1 NT5E NTM OCRL OGG1 OPCML PAFAH1B1 PARP14 PARP1 PDIA3 PFKFB3 PGAP1 PGD PGP PIGC PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLB1 PLCB1 PLCB4 PNPLA2 PNPLA6 PPP1R3B PPP1R3C PPT1 PRNP PSAP PTEN PTGDS PTGS1 PTGS2 RGN SCD SDHD SELP SGMS2 SIGLEC7 SIRT2 SIRT6 SLC17A5 SLC2A4 SLC33A1 SLC35G1 SMPD1 SMUG1 SOAT1 SRD5A1 ST3GAL3 ST3GAL4 ST8SIA4 SUCLA2 SULT1E1 TECR TGDS TNKS2 TNKS TUSC3 UGCG VCAM1 XYLT2	10082 1012 10159 10327 10855 10858 10908 1103 1109 11253 11332 116285 125 126 1298 1312 1374 142 1431 1463 1464 148789 151056 1544 1555 1557 1559 1571 1576 1588 1593 159371 1607 1608 160851 161357 1636 1646 166929 1738 18 2026 217 218 2182 2224 22901 22933 23236 23483 23583 23600 23659 240 249 2571 2572 2581 26253 2629 26503 266727 27036 27087 2717 27306 27349 2739 275 2752 276 277 278 28 2821 283871 2876 2923 307 31 32 3290 3340 3383 340075 3423 3425 353 3554 3613 3636 3897 3939 3956 3958 3988 3992 4048 4074 4099 410 414 4191 4199 43 4350 4351 4595 4684 4907 4952 4968 4978 501 5048 5067 50863 51 51495 51548 51763 5209 5226 5279 5290 5291 5293 5294 5319 5320 5321 5332 53942 54187 54625 54675 5507 5538 55830 55902 5621 5660 56994 57104 5728 5730 5742 5743 6319 6392 6403 64083 64132 6484 6487 6517 6609 6646 6715 6783 683 7357 7412 781 7903 79053 79143 7957 79586 79660 79661 7991 79947 80055 80351 811 81562 8398 847 8560 8658 8803 9104 9197 9348 9365 9394 9415 952 9524 9695 9896 9926	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0111069	congenital bile acid synthesis defect 2 Aliases: CBAS2 cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency	AKR1D1	6718	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:10127	cerebral artery occlusion	ACACA ACE ACSM3 ADH1B ADPRS AKR1A1 ALDH2 ALDH7A1 ALOX5 CAT CD14 CYP11B2 CYP1A1 CYP2C19 CYP3A4 CYP3A5 CYP4A11 CYP4F2 EBP ENO1 ENO2 ENPP2 EPHX2 FCN1 G6PD GAL3ST1 GLUL GPI HPGDS HSPG2 ICAM1 IMPA1 ISYNA1 LCAT LGALS3 LPL MAG MGLL NAMPT OLR1 PARP1 PCYT1A PFKFB3 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G4A PLA2G7 PRNP PTEN PTGIS PTGS1 PTGS2 RGMB RTN4R SELE SELP SFTPD SIGLEC7 SIRT2 SLC33A1 SLC35A1 SLC5A1 ST3GAL4 TBXAS1 TIGAR TM7SF2 UGCG XYLT2	10135 10327 10559 10682 11343 125 142 1543 1557 1576 1577 1579 1585 1636 2023 2026 2053 217 2219 22933 240 2539 27036 27306 2752 2821 285704 31 3339 3383 3612 3931 3958 4023 4099 4973 501 5130 51477 5168 5209 5290 5291 5293 5294 5321 54936 5621 57103 5728 5740 5742 5743 6296 6401 6403 64132 6441 6484 65078 6523 6916 7108 7357 7941 847 8529 9197 929 9514	Homo sapiens (human)	DisGeNET DisGeNET
DOID:11726	Emery-Dreifuss muscular dystrophy Aliases: EDMD	G6PD	2539	Homo sapiens (human)	DisGeNET
DOID:0112378	muscular dystrophy-dystroglycanopathy type B3 Aliases: MDDGB3 congenital muscular dystrophy POMGNT1-related	POMGNT1	55624	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060010	Omenn syndrome Aliases: combined immunodeficiency with hypereosinophilia	PNP	4860	Homo sapiens (human)	DisGeNET
DOID:5353	colonic disease Aliases: colon disorder	FUT2	2524	Homo sapiens (human)	DisGeNET
DOID:14221	abdominal obesity-metabolic syndrome 1 Aliases: dysmetabolic syndrome X metabolic syndrome X	ACACA ACACB ACADVL ACE ACHE ACOX1 ACSL1 ACSL4 ACSM1 ACSM3 AGA AKR1B1 AKR1C3 ALDH2 ALDOA ALOX5 APRT ARSA ARSB ATP6AP2 CALR CANX CAT CD14 CD38 CDH13 CHGA CLEC16A CNTN2 CNTN3 COLEC12 COMT CPT1A CPT2 CYP11B2 CYP17A1 CYP19A1 CYP21A2 CYP24A1 CYP2C19 CYP2R1 CYP3A4 CYP3A5 CYP46A1 CYP4F2 DAG1 ENO2 ENPP1 EPHX2 FADS1 FADS2 G6PC2 G6PD GALNT2 GBA1 GCK GCNT2 GGT1 GNPDA2 GPI GPX1 GPX3 GYS1 H6PD HADH HPGDS HSD11B1 HSD11B2 HSPG2 ICAM1 IGF2R INPPL1 KL LCAT LCT LEP LGALS2 LGALS3 LIPA LIPC LIPG LPIN1 LPL LTA4H LTC4S LYZ MBOAT7 MCAT MGLL MRC1 MTM1 NAAA NAMPT NANS NEIL1 OGA OGG1 OLR1 PARP1 PC PCK1 PCK2 PCYT1A PDHA1 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKM PLA2G2A PLA2G4A PLA2G6 PLA2G7 PLCB1 PLCB4 PLCG1 PLD2 PNPLA2 PNPLA3 PRKAA2 PTEN PTGDS PTGES2 PTGS2 RENBP SCD SDC3 SELE SELP SIRT2 SLC17A5 SLC27A5 SLC2A2 SLC2A4 SLC2A5 SLC33A1 SLC35A2 SLC35D3 SLC3A1 SLC5A1 SRD5A2 ST3GAL4 STS SULT1E1 TM7SF2 UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9 UMOD VCAM1	1012 10135 10159 10724 10858 10998 1113 11343 116285 120227 1312 132789 1374 1376 142 1557 1576 1577 1585 1586 1588 1589 1591 1605 1636 175 2026 2053 217 2180 2182 226 22933 231 23175 23236 23274 240 2539 2590 2629 2645 26503 2651 2678 27163 27306 27349 2821 2876 2878 2997 3033 31 32 3290 3291 3339 3383 340146 3482 353 3636 37 3931 3938 3952 3957 3958 3988 3990 3992 4023 4048 4056 4069 410 411 412 43 4360 4534 4968 4973 5067 5091 51 5105 5106 5130 5160 5167 5290 5291 5293 5294 5310 5315 5320 5321 5332 5335 5338 54187 54575 54576 54577 54578 54579 54600 54657 54658 54659 5563 56886 57104 5728 5730 5743 57818 5973 6296 6319 6401 6403 6484 6514 6517 6518 6519 6523 6716 6783 6900 7108 7355 7369 7412 79143 7941 79661 80142 80339 81035 811 821 8398 847 8529 8644 9197 929 9365 9388 9415 952 9563 9672	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:7166	thyroiditis	CALR ICAM1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN SELL	3383 5290 5291 5293 5294 5728 6402 811	Homo sapiens (human)	DisGeNET
DOID:8632	Kaposi's sarcoma Aliases: Kaposi sarcoma Kaposi's sarcoma of Heart Kaposi's sarcoma of anus Kaposi's sarcoma of central nervous system Kaposi's sarcoma of conjunctiva Kaposi's sarcoma of cornea Kaposi's sarcoma of esophagus Kaposi's sarcoma of gastrointestinal sites Kaposi's sarcoma of lung Kaposi's sarcoma of lymph nodes Kaposi's sarcoma of palate Kaposi's sarcoma of penis Kaposi's sarcoma of skin Kaposi's sarcoma of soft tissue Kaposi's sarcoma of soft tissues Kaposi's sarcoma of the CNS Kaposi's sarcoma of the gallbladder Kaposi's sarcoma of the prostate Kaposi's sarcoma, lung Kaposi's sarcoma, skin anal Kaposi's sarcoma cardiac Kaposi's sarcoma central nervous system Kaposi's sarcoma conjunctival Kaposi's sarcoma corneal Kaposi's sarcoma cutaneous Kaposi's sarcoma esophageal Kaposi's sarcoma gallbladder Kaposi's sarcoma gastric Kaposi's sarcoma intestinal Kaposi's sarcoma lymph node Kaposi's sarcoma lymphadenopathic Kaposi's sarcoma palate Kaposi's sarcoma penis Kaposi's sarcoma prostate Kaposi's sarcoma pulmonary Kaposi's sarcoma soft tissue Kaposi's sarcoma	BCKDHB CD1D CERK DCN IGF2R KLRK1 LGALS1 LGALS3 MLYCD PIK3C2A PIK3CA PIK3CB PIK3CD PIK3CG PLCG1 PTGS2 RENBP SDC1 SELE SEMA7A SIGLEC1 SIRT6 SPHK2 VCAM1	1634 22914 23417 3482 3956 3958 51548 5286 5290 5291 5293 5294 5335 56848 5743 594 5973 6382 6401 64781 6614 7412 8482 912	Homo sapiens (human)	DisGeNET DisGeNET
DOID:14723	beta-ketothiolase deficiency Aliases: 2-methyl-3-hydroxybutyricacidemia 3-ketothiolase deficiency 3-oxothiolase deficiency Mitochondrial acetoacetyl-CoA Thiolase deficiency alpha-methylacetoaceticaciduria peroxisomal thiolase deficiency	ACAA1 ACAA2 ACAT1 ACAT2 HADHB HSD17B4 OXCT1	10449 30 3032 3295 38 39 5019	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:14264	benign neonatal seizures Aliases: benign familial neonatal seizures benign neonatal convulsions	ATP1A2 GALE	2582 477	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0080141	mosaic variegated aneuploidy syndrome 1	CNTN3	5067	Homo sapiens (human)	DisGeNET
DOID:0060704	lymphoproliferative syndrome Aliases: Combined immunodeficiency due to ITK deficiency	KLRK1	22914	Homo sapiens (human)	Alliance of Genome Resources
DOID:3262	phagocyte bactericidal dysfunction Aliases: phagocytic dysfunction	G6PD	2539	Homo sapiens (human)	DisGeNET
DOID:6603	Kummell's disease Aliases: Kummell disease Kummell's spondylitis Traumatic spondylopathy	KL	9365	Homo sapiens (human)	DisGeNET
DOID:10579	leukodystrophy	ABAT ACER3 ACOT12 ACOX1 ARSA ATRN DAG1 DEGS1 ECHS1 GALC GBE1 HSD17B4 MAG PC PDHA1 PLA2G1B PLA2G6 PLB1 PSAP SDHA SDHB SLC17A5 SORD TYMP	134526 151056 1605 18 1890 1892 2581 2632 26503 3295 4099 410 5091 51 5160 5319 55331 5660 6389 6390 6652 8398 8455 8560	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0070014	autosomal dominant dyskeratosis congenita 1 Aliases: DKCA1 Dyskeratosis Congenita, Scoggins Type	INPP4A	3631	Homo sapiens (human)	DisGeNET
DOID:6677	diffuse infiltrative lymphocytosis syndrome	IDH1 IDH2	3417 3418	Homo sapiens (human)	DisGeNET
DOID:0111138	congenital generalized lipodystrophy type 4 Aliases: Berardinelli-Seip congenital lipodystrophy type 4 with muscular dystrophy congenital generalised lipodystrophy type 4 generalised congenital lipodystrophy type 4 generalised congenital lipodystrophy with myopathy generalized congenital lipodystrophy type 4 generalized congenital lipodystrophy with myopathy	AGL AGPAT1 AGPAT2 ATP6V0A2 ATP6V1A B4GALT7 CD38 DDOST DOLK FKTN FUCA1 GPC3 LPIN1 LPIN2 LPL PARP2 PCK1 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PMM2 PNPLA2 SCD SDHA SMUG1 XYLT2	10038 10554 10555 11285 1650 178 2218 22845 23175 23545 23583 2517 2719 4023 5105 5130 523 5290 5291 5293 5294 5373 57104 6319 6389 64132 952 9663	Homo sapiens (human)	DisGeNET DisGeNET
DOID:2174	ocular cancer Aliases: Ocular tumor eye neoplasm malignant eye neoplasm neoplasm of eye neoplasm of eye proper	FASN LIPG	2194 9388	Homo sapiens (human)	DisGeNET DisGeNET
DOID:3098	small cell sarcoma	CD38	952	Homo sapiens (human)	DisGeNET
DOID:0060367	Parkinson's disease 1 Aliases: autosomal dominant Parkinson disease 1 autosomal dominant Parkinson's disease 1	SYNJ1	8867	Homo sapiens (human)	DisGeNET
DOID:3458	breast adenocarcinoma Aliases: Mammary adenocarcinoma	ACSBG1 AKR1B1 ALDH3A1 ANXA5 CANX CAT CYP19A1 CYP1A1 CYP1B1 G6PD GPX1 HACD1 HK2 HPSE IDH1 INPP4B LGALS1 LYNX1 MMP17 NTHL1 PARP1 PIK3CA PIK3CB PKD1 PTEN PTGS2 SMUG1 TNF UGCG	10855 142 1543 1545 1588 218 231 23205 23583 2539 2876 308 3099 3417 3956 4326 4913 5290 5291 5310 5728 5743 66004 7124 7357 821 847 8821 9200	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources

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