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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **3001 - 3025** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
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:1614	male breast cancer Aliases: malignant neoplasm of male breast neoplasm of male breast	CYP17A1 CYP19A1 CYP1B1 HSD17B1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN SMUG1	1545 1586 1588 23583 3292 5290 5291 5293 5294 5728	Homo sapiens (human)
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)
DOID:0060467	humeroradial synostosis	ALDH2 B3GAT3 B4GALT7 CHST3 COLEC10 COLEC11 EXT1 EXT2 HSPG2 MASP1 PIK3CA PRKAA2 PTDSS1 SMC3 UMOD XYLT1	10584 11285 2131 2132 217 26229 3339 5290 5563 5648 64131 7369 78989 9126 9469 9791	Homo sapiens (human)
DOID:0050745	diffuse large B-cell lymphoma Aliases: DLBCL	ABO ACSBG1 AMACR ANXA5 APRT CALR CAT CD109 CD22 CD38 CD44 CD74 CDH13 CDS1 CYP17A1 CYP1A1 CYP24A1 EFNA5 ENO2 FASN FBP1 FCGR3B GAPDH GBA1 GPI GPX1 HK2 HMMR HPGDS ICAM1 IDH1 IDH2 IL1RAPL1 INPP5D KDSR KL LGALS16 LGALS1 LGALS3 LPL LY6K LYPD5 MASP2 MCAT MTAP NCAM1 NT5E OGT PARP14 PARP1 PARP9 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PLCG2 PRKAA2 PTEN PTGS2 SDC1 SELL SMUG1 SOAT1 SPHK1 STS TP53 UGCG UMOD VTCN1	1012 1040 10747 11141 135228 142 148003 1543 1586 1591 1946 2026 2194 2203 2215 23205 23583 23600 2531 2597 2629 27306 27349 28 2821 284348 2876 308 3099 3161 3383 3417 3418 353 3635 3956 3958 4023 412 4507 4684 4907 5130 5290 5291 5293 5294 5336 54625 54742 5563 5728 5743 6382 6402 6646 7157 7357 7369 79679 811 83666 847 8473 8877 933 9365 952 960 972	Homo sapiens (human)
DOID:0110533	autosomal recessive nonsyndromic deafness 88 Aliases: DFNB88 autosomal recessive deafness 88	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)
DOID:0050851	glomerulosclerosis	ACE PLA2G7	1636 7941	Homo sapiens (human)
DOID:11782	astigmatism	ARSG ART1 COL9A2 MAG MELTF PCYT1A SLC39A8	1298 22901 4099 417 4241 5130 64116	Homo sapiens (human)
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:0081427	autosomal recessive distal hereditary motor neuronopathy 8 Aliases: SORDD sorbitol dehydrogenase deficiency with peripheral neuropathy	SORD	6652	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: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:0110248	cataract 30 Aliases: CTRCT30 Dusty cataract cataract 30 pulverulent cataract Coppock-like	AGK ALDH7A1 CRYL1 CYP27A1 GALK1 GCNT2 GPC5 INPP5K LSS OCRL PIK3CA PIK3CB PIK3CD PIK3CG PTEN SLC17A5 SLC33A1 SORD	1593 2262 2584 26503 2651 4047 4952 501 51084 51763 5290 5291 5293 5294 55750 5728 6652 9197	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: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:4331	burning mouth syndrome Aliases: Orodynia Stomatopyrosis	ACE CD14	1636 929	Homo sapiens (human)
DOID:0090119	ankyloblepharon-ectodermal defects-cleft lip/palate syndrome Aliases: AEC syndrome Hay-Wells syndrome ankyloblepharon-ectodermal defects-cleft lip and palate syndrome	ACACA ANXA5 CD38 DHCR7 G6PD GOLPH3 PGK1 PTEN PTGS2 SFTPC	1717 2539 308 31 5230 5728 5743 64083 6440 952	Homo sapiens (human)
DOID:0080011	bone resorption disease	CYP19A1	1588	Homo sapiens (human)
DOID:5534	renal pelvis squamous cell carcinoma Aliases: Epidermoid carcinoma of the kidney Pelvis	SMUG1	23583	Homo sapiens (human)
DOID:1405	primary angle-closure glaucoma Aliases: primary Angle Closure Glaucoma	AKR1C4 CAT CHAT CYP1B1 CYP2B6 DCN DPM2 NT5E OGG1	1103 1109 1545 1555 1634 4907 4968 847 8818	Homo sapiens (human)
DOID:0050785	progressive relapsing multiple sclerosis Aliases: PRMS Progressive-relapsing MS	LGALS3 RGMA SOAT1	3958 56963 6646	Homo sapiens (human)
DOID:12995	conduct disorder	ALDH2 ARSD BST2 COMT DGKK EFNA5 EXT1 G6PD GLDC	1312 139189 1946 2131 217 2539 2731 414 684	Homo sapiens (human)
DOID:0080307	myofibrillar myopathy	CS PTEN	1431 5728	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)

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