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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 **1401 - 1425** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:0070133	autosomal recessive cutis laxa type IB Aliases: ARCL1B	ATP6AP1 ATP6V0A2 B3GALT6 B3GAT3 B4GALT7 CAT CHST3 DCN DHCR7 ECHS1 ENOSF1 MAN1B1 PARP1 PIGL PLCG2 PMM2 PTDSS1 SLC2A10 SRD5A3	11253 11285 126792 142 1634 1717 1892 23545 26229 5336 537 5373 55556 79644 81031 847 9469 9487 9791	Homo sapiens (human)
DOID:0050440	familial partial lipodystrophy Aliases: Dunnigan Syndrome Koberling-Dunnigan Syndrome	AGL AGPAT2 LPL	10555 178 4023	Homo sapiens (human)
DOID:10690	mastitis Aliases: Inflammatory breast disease Inflammatory disease of breast breast inflammation	ABO AMACR B4GALT1 CD14 CRLS1 CYP1A1 CYP24A1 CYP2R1 DGAT1 GALNS LPL LYZ PLA2G1B PLB1 SCD SFTPA1 SLC26A2 TLR4	120227 151056 1543 1591 1836 23600 2588 2683 28 4023 4069 5319 54675 6319 653509 7099 8694 929	Homo sapiens (human)
DOID:589	congenital hemolytic anemia Aliases: congenital hemolytic anaemia hereditary hemolytic anaemia hereditary hemolytic anemia	ABO ACSL4 ALDOA CAT CD55 FUT1 G6PD GPI HK1 NDUFAB1 NT5E PKLR SCD TPI1 UGT1A1 UGT8	1604 2182 226 2523 2539 28 2821 3098 4706 4907 5313 54658 6319 7167 7368 847	Homo sapiens (human)
DOID:4947	cholangiocarcinoma Aliases: adult primary Cholangiocarcinoma adult primary cholangiocellular carcinoma cholangiosarcoma	ACE AKR1A1 AKR1B10 ALDH1A3 ALDOA ALOX15 ALOX5 ALPI ALPP ANXA4 ANXA5 APRT ARSA BRAF CALR CAT CBR1 CD14 CD44 CD55 CEACAM5 CEACAM6 CEACAM7 CRYL1 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP24A1 CYP27B1 CYP7A1 DLAT ENO1 ENPP1 ENPP3 FBP1 FCGR3B FUT1 FUT2 FUT3 GALNS GGT1 GLUL GNE GPC1 GPC3 H6PD HK2 HPSE HSPG2 ICAM1 IDH1 IDH2 IGF2R INS KLRK1 L1CAM LDHA LGALS1 LGALS3 LGALS9 ME1 MGAT5 MRC1 MSLN MUTYH NCAM1 NEIL1 NEU1 NT5E OGG1 OPCML PARP1 PCYT1A PDHA1 PFKP PIK3CA PIK3CB PIK3CD PIK3CG PKD2 PKM PLA2G4A PSMD10 PTEN PTGES PTGS2 RECK SDC1 SDC2 SGMS1 SHMT2 SIRT2 SMUG1 SPHK1 SPHK2 STS UGDH UGT1A10 UGT1A9 UGT2B11 UMPS VTCN1	10020 10232 10327 1048 10720 10855 1087 142 1543 1544 1581 1586 1588 1591 1594 1604 1636 1737 2023 220 2203 2215 226 22914 22933 23583 240 246 248 250 2523 2524 2525 2588 259230 2678 2719 2752 2817 307 308 3099 3339 3383 3417 3418 3482 353 3630 3897 3939 3956 3958 3965 410 412 4199 4249 4360 4595 4680 4684 4758 4907 4968 4978 51084 5130 5160 5167 5169 5214 5290 5291 5293 5294 5311 5315 5321 54575 54600 56848 57016 5716 5728 5743 6382 6383 6472 673 7358 7372 79661 79679 811 8434 847 873 8877 929 9536 9563 960	Homo sapiens (human)
DOID:3181	oligodendroglioma Aliases: oligodendroglial neoplasm oligodendroglial tumor	ACLY CD44 CHI3L1 CNTN2 CSPG4 DHDDS ENO2 FASN GLUL HPSE HSPG2 IDH1 IDH2 LGALS1 LGALS3 MMUT PIK3CA PIK3CB PIK3CD PIK3CG PLA2G4A PLA2G4C PLCB1 PTEN PTGES3 PTGS2 SDHB SULT1E1 UGT8	10728 10855 1116 1464 2026 2194 23236 2752 3339 3417 3418 3956 3958 4594 47 5290 5291 5293 5294 5321 5728 5743 6390 6783 6900 7368 79947 8605 960	Homo sapiens (human)
DOID:0014667	disease of metabolism Aliases: metabolic disease	ACACA ACADM ACAT1 ACE ACHE ACLY ACOX1 ACSF3 ADH1B AGL AGXT AKR1C3 AKR1D1 AMT APRT ARSA BAAT CAT CD14 CD248 CD38 CD74 CDH13 CEACAM5 CERS6 CFC1 COL9A2 CPT1A CPT2 CTNS CYP11B1 CYP11B2 CYP1B1 CYP21A2 CYP2B6 CYP2C19 CYP2C9 CYP7A1 CYP7B1 CYP8B1 DGAT1 DLD ECHS1 ELOVL6 ENO3 ENPP2 FASN G6PC1 G6PD GAA GAD2 GALC GALK1 GALNS GALNT3 GALNT8 GALT GBE1 GCDH GCK GLA GLDC GLUL GNPTAB GPIHBP1 GPX1 GPX3 GYG1 GYS2 HADH HADHA HSD11B1 HSD11B2 IDH1 IDH2 IDUA INPP5K INPPL1 INS KHK KL KLB L2HGDH LCAT LDHA LDHAL6A LDHAL6B LDHB LDHC LGALS3 LPIN2 LPL MACROD1 MBD4 MCEE MGAT1 MGAT2 MGAT4A MMUT MOGAT2 MRC1 NAMPT OGG1 OLR1 PARP1 PARP2 PCCA PCCB PCK2 PDHA1 PDHA2 PDHX PFKL PFKM PFKP PGAM2 PGM1 PGP PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKLR PKM PLA2G4A PMM2 PNP PNPLA2 PNPLA3 PRKAA2 PRPS1 PTEN PTGES PTGS2 PYGM RPIA SARM1 SCD SFTPD SI SIGLEC12 SIRT4 SIRT6 SLC17A5 SLC26A2 SLC2A2 SLC2A4 SLC2A5 SLC37A4 SLC5A1 SMPD1 SMUG1 SORD ST3GAL4 STS SULF1 SULT1E1 TALDO1 TM7SF2 TPI1 UMPS VCAM1 VNN1 VNN2	10038 1012 10135 1048 11320 125 1298 1374 1376 142 1497 152831 1545 1555 1557 1559 1581 1582 1584 1585 1589 160287 1636 1738 178 1836 189 1892 197322 2027 2194 22934 23098 23213 23409 23583 253782 2538 2539 2542 2548 2572 2581 2584 2588 2591 2592 26290 2632 2639 2645 26503 2717 2731 275 2752 283871 2876 2878 28992 2992 2998 3030 3033 31 3290 3291 338328 34 3417 3418 3425 353 3630 3636 3795 38 3931 3939 3945 3948 3958 4023 410 412 4245 4247 43 4360 4594 47 4860 4968 4973 5095 5096 51 5106 51548 5160 5161 5168 51763 5211 5213 5214 5224 5236 5290 5291 5293 5294 5310 5313 5315 5321 5373 5563 55997 5631 570 57104 57124 5728 5743 5837 6319 6441 6476 6484 6514 6517 6518 6523 6609 6652 6718 6783 6888 7108 7167 7372 7412 79071 79158 79944 80168 80339 8050 84693 847 8644 8694 8875 8876 8930 89858 92483 929 9365 9420 952 9536 9663 972	Homo sapiens (human)
DOID:11482	hemopericardium Aliases: Haemopericardium	ACADVL ACE ALG9 CAT GBA1 PMM2 PTGS2 SMUG1	1636 23583 2629 37 5373 5743 79796 847	Homo sapiens (human)
DOID:8568	infectious mononucleosis Aliases: Filatov's disease Gammaherpesviral mononucleosis Monocytic angina Pfeiffer's disease glandular fever mononucleosis	KLRD1 NCAM1	3824 4684	Homo sapiens (human)
DOID:13088	periventricular leukomalacia	ACE ECHS1 EOGT PC PLA2G6 PMM2 SFTPD TNF TPI1	1636 1892 285203 5091 5373 6441 7124 7167 8398	Homo sapiens (human)
DOID:0080029	autosomal recessive spinocerebellar ataxia 16 Aliases: SCAR16	CNTN4 SUMF1	152330 285362	Homo sapiens (human)
DOID:0080534	myxofibrosarcoma Aliases: fibromyxoid sarcoma	CD44 CHSY1 DCN	1634 22856 960	Homo sapiens (human)
DOID:0080307	myofibrillar myopathy	CS PTEN	1431 5728	Homo sapiens (human)
DOID:2351	iron metabolism disease Aliases: disorder of iron metabolism iron disorder	ACACA ACE ACO1 AKR1D1 ALPP ANXA5 ARSA ATRNL1 CALR CAT CCDC115 CYP27B1 G6PD GALNS GLUL GNPAT GPX1 HJV IL1R1 NDUFAB1 PNPLA3 PRNP SLC17A5 SLC39A8 SMPD1 VCAM1	148738 1594 1636 250 2539 2588 26033 26503 2752 2876 308 31 3554 410 4706 48 5621 64116 6609 6718 7412 80339 811 84317 8443 847	Homo sapiens (human)
DOID:2476	hereditary spastic paraplegia Aliases: French settlement disease Strumpell-Lorrain disease familial spastic paraplegia hereditary spastic paraparesis	B4GALNT1 CYP2B6 CYP2U1 CYP39A1 CYP7B1 FAR1 GBA2 L1CAM L2HGDH MAG PCYT2 PLA2G6 PNPLA6 PNPLA7 SELENOI SLC33A1 ST3GAL5	10908 113612 1555 2583 375775 3897 4099 51302 57704 5833 79944 8398 84188 85465 8869 9197 9420	Homo sapiens (human)
DOID:175	vascular cancer Aliases: Blood vessel tumor Blood vessel tumors Blood vessel tumour disorder Haemangiomatous tumour blood vessel neoplasm leiomyosarcoma of the renal Vein malignant great vessel tumor malignant tumor of pulmonary Vein malignant tumor of pulmonary artery malignant vascular neoplasm malignant vascular tumor neoplasm of great vessel pulmonary artery malignant neoplasm pulmonary vein malignant neoplasm renal vein leiomyosarcoma vascular tissue neoplasm vascular tumors	CD93 DCN IDH1 PLD2 SMUG1	1634 22918 23583 3417 5338	Homo sapiens (human)
DOID:4223	pyoderma	GALNS	2588	Homo sapiens (human)
DOID:0111129	focal segmental glomerulosclerosis 2 Aliases: FSGS2	ACE	1636	Homo sapiens (human)
DOID:0081168	HMG-CoA synthase 2 deficiency Aliases: 3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency	HMGCS2	3158	Homo sapiens (human)
DOID:0050814	temtamy preaxial brachydactyly syndrome Aliases: PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE	CHSY1 TGDS	22856 23483	Homo sapiens (human)
DOID:0110658	congenital myasthenic syndrome 15 Aliases: CMS15 congenital myasthenic syndrome 15 without tubular aggregates	ALG14	199857	Homo sapiens (human)
DOID:3610	breast mucinous carcinoma Aliases: Invasive mucinous breast carcinoma	PIK3CA SMUG1	23583 5290	Homo sapiens (human)
DOID:4271	microsporidiosis Aliases: Infection by Microspora Infection by Microsporea Infection by Microsporida	TPI1	7167	Homo sapiens (human)
DOID:4159	skin cancer Aliases: CA - skin cancer malignant neoplasm of skin melanoma and Non-melanoma skin cancer	ABO ACACA ACE ALOX12 ANXA7 ATRN CAT CD248 CD44 CYP24A1 CYP27A1 CYP27B1 CYP2B6 FUT1 GGT1 GPC3 HPGDS HSD11B1 HSD11B2 ICAM1 INPP5A INPP5K ISYNA1 KDSR LGALS3 LGALS9 LTA4H MICA MRC1 MTAP NCAM1 NTHL1 OCRL OGG1 PARP1 PEMT PIGU PIK3CA PIK3CD PIK3CG PKM PTEN PTGES PTGS2 SDC1 SDHB SIRT2 SIRT6 SORD STT3A SULF2 TALDO1 TDG TNKS2 VCAM1 VCAN XYLT2	100507436 10400 128869 142 1462 1555 1591 1593 1594 1636 22933 239 2523 2531 2678 2719 27306 28 31 310 3290 3291 3383 3632 3703 3958 3965 4048 4360 4507 4684 4913 4952 4968 51477 51548 51763 5290 5293 5294 5315 55959 57124 5728 5743 6382 6390 64132 6652 6888 6996 7412 80351 8455 847 9536 960	Homo sapiens (human)
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)

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