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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 **2251 - 2275** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:533	thymus gland disease Aliases: disease of thymus gland	ACSM3 CYP17A1 CYP19A1 GAS1 GPC1 L1CAM SMPD3	1586 1588 2619 2817 3897 55512 6296	Homo sapiens (human)
DOID:12583	velocardiofacial syndrome Aliases: Shprintzen syndrome VCF-Velocardiofacial syndrome	ARSA COMT CPO DGCR2 GBA1 NAAA NDST1 PLA2G6 SULT1E1	130749 1312 2629 27163 3340 410 6783 8398 9993	Homo sapiens (human)
DOID:6951	telangiectatic osteogenic sarcoma Aliases: Telangiectatic osteosarcoma	IDH2	3418	Homo sapiens (human)
DOID:2018	hyperinsulinism Aliases: hyperinsulinemia	ACACA ACE ACLY ADIPOQ AGPAT2 AKR1C3 ALDH2 AMY1A AMY1B AMY1C CA4 CANX CD14 CPT1A CRYL1 CS CYP17A1 CYP19A1 CYP1A2 DHDDS EHHADH ELOVL6 ENPP1 FASN FCGR3B FCN2 G6PC1 G6PC2 GCK GFPT1 GLA GLB1 GPX1 H6PD HADH HGSNAT HK2 HPGDS HSD11B1 IDH3A IDH3B INS KCNJ11 KL LEP LEPR LIPC LPIN1 LPL MELTF MGAT5 MPI NEIL1 OGT PDHX PFKFB1 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PMM2 PNPLA2 PNPLA3 POMGNT1 PRKAA2 PTEN PTGDS RBP4 RENBP SCD SFTPA1 SFTPA2 SFTPC SIGLEC7 SIRT4 SLC2A3 SLC2A4 ST3GAL4 TM7SF2 UGDH UGT1A1 VCAM1	10555 1374 138050 1431 1544 1586 1588 1636 1962 217 2194 2215 2220 23175 23409 2538 2645 2673 27036 2717 2720 27306 276 277 278 2876 3033 3099 31 3290 3419 3420 3630 3767 3952 3953 3990 4023 4241 4249 4351 47 51084 5167 5207 5290 5291 5293 5294 5310 5373 54658 55624 5563 57104 5728 5730 57818 5950 5973 6319 6440 6484 6515 6517 653509 7108 729238 7358 7412 762 79071 79661 79947 80339 8050 821 8473 8644 929 9365 9370 9563	Homo sapiens (human)
DOID:8931	Evans' syndrome	ABO ACSBG1 CD38 CD44 CD72 CLEC1B FCGR3B FCN2 GALC HPSE2 HPSE IL1R1 KLRD1 LGALS9 MBD4 MBL2 MICA MRC1 NCAM1 PNP PTEN PTGS1 PTGS2 SELE SELP SMPD1 STS VNN1	100507436 10855 2215 2220 23205 2581 28 3554 3824 3965 412 4153 4360 4684 4860 51266 5728 5742 5743 60495 6401 6403 6609 8876 8930 952 960 971	Homo sapiens (human)
DOID:7633	macular holes Aliases: Macular hole	GALNS RPE	2588 6120	Homo sapiens (human)
DOID:11502	mitral valve insufficiency Aliases: Congenital insufficiency of mitral valve Mitral valve incompetence congenital mitral insufficiency congenital mitral regurgitation mitral regurgitation	ABO ACE AGA B3GALT6 B3GAT3 CHST3 DSE ENPP1 G6PC3 GLA HADHA HADHB IDUA PLD1 PRKAA2 SCD XYLT1 XYLT2	126792 1636 175 26229 2717 28 29940 3030 3032 3425 5167 5337 5563 6319 64131 64132 92579 9469	Homo sapiens (human)
DOID:583	hemolytic anemia Aliases: ANEMIA HEMOLYTIC	ABO ALDH9A1 ALDOA CD55 DGKE FBP1 FOLR2 G6PD GALT GCLC GPI H6PD HK1 HPGDS LCAT PFKM PGK1 PGM3 PIGA PIGT PKLR PTGS2 SLC35A2 SMUG1 TPI1 UGCG UGT1A1	1604 2203 223 226 2350 23583 2539 2592 2729 27306 28 2821 3098 3931 51604 5213 5230 5238 5277 5313 54658 5743 7167 7355 7357 8526 9563	Homo sapiens (human)
DOID:0110865	congenital stationary night blindness 1B Aliases: CSNB1B autosomal recessive complete congenital stationary night blindness congenital stationary night blindness 1B autosomal recessive	NYX	60506	Homo sapiens (human)
DOID:11527	laryngostenosis Aliases: Stenosis of larynx	FIG4 GLT8D1 SLC26A2	1836 55830 9896	Homo sapiens (human)
DOID:0080162	lupus nephritis	ACE AGA ALG1 CALR CD38 CD44 CD74 CLEC7A CYP2B6 CYP2C19 CYP3A5 ENO1 EPHX2 EXT1 EXT2 FCGR3B FCN1 FCN2 FCN3 HPSE HSPG2 ICAM1 LGALS3 LGALS9 MBL2 OGG1 PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2R1 PTEN PTGDS PTGS1 PTGS2 SDC2 TNF VCAM1 VTCN1	10855 1555 1557 1577 1636 175 2023 2053 2131 2132 2215 2219 2220 22925 3339 3383 3958 3965 4153 4968 5236 5290 5291 5293 5294 56052 5728 5730 5742 5743 6383 64581 7124 7412 79679 811 8547 952 960 972	Homo sapiens (human)
DOID:0050811	congenital adrenal hyperplasia Aliases: adrenal hyperplasia 1 congenital lipoid adrenal hyperplasia lipoid CAH	ACADVL CFC1 CHST3 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP21A2 CYP2B6 CYP2C19 CYP4F3 FH GLO1 GML HADHA HSD11B2 HSD17B1 HSD17B3 HSD17B6 HSD3B1 HSD3B2 IDS MDH2 OTOA SDHB	146183 1555 1557 1583 1584 1585 1586 1588 1589 2271 2739 2765 3030 3283 3284 3291 3292 3293 3423 37 4051 4191 55997 6390 8630 9469	Homo sapiens (human)
DOID:0070313	thiamine deficiency disease	AGXT CHAT SLC35F3 TKT	1103 148641 189 7086	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:0111225	centronuclear myopathy X-linked Aliases: CNMX MTM1 X-linked myotubular myopathy XLCNM XLMTM myotubular myopathy 1	ACHE IDS MTM1 MTMR14 MTMR1 MTMR2 MTMR3 MTMR4 MTMR6 MTMR7 MTMR8	3423 43 4534 55613 64419 8776 8897 8898 9107 9108 9110	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)
DOID:10602	obsolete steatorrhea	ACOX2 BAAT CYP7B1 HSD3B7 LIPA PNLIP	3988 5406 570 80270 8309 9420	Homo sapiens (human)
DOID:0110736	neurodegeneration with brain iron accumulation 2b Aliases: NBIA2b Neuroaxonal Dystrophy, Atypical Neurodegeneration With Brain Iron Accumulation, Pla2g6-Related	AKR1B10 PLA2G1B PLA2G6 PLB1	151056 5319 57016 8398	Homo sapiens (human)
DOID:3087	gingivitis Aliases: acute gingivitis chronic gingivitis	ACACA B4GALT7 FCN2 FMOD LYZ OCRL OGA PTGS2 SELE SMC3	10724 11285 2220 2331 31 4069 4952 5743 6401 9126	Homo sapiens (human)
DOID:0110106	atrial heart septal defect 1 Aliases: ASD1 atrial septal defect 1	ACADVL ALG12 ARSA ARSD ATP6V1A B3GALT6 B3GAT3 B3GLCT CAT CFC1 CHST14 CHST3 COMT CYP11A1 CYP11B2 CYP1B1 CYP2E1 DSE FIG4 FKTN G6PC3 GAA GPC3 GPC6 MASP1 MMUT PCYT1A PIGA PIGN PIGQ PLD1 PTEN RENBP SMC3 TALDO1 TGDS TKT XYLT2	10082 113189 126792 1312 145173 1545 1571 1583 1585 2218 23483 23556 2548 26229 2719 29940 37 410 414 4594 5130 523 5277 5337 55997 5648 5728 5973 64132 6888 7086 79087 847 9091 9126 92579 9469 9896	Homo sapiens (human)
DOID:3717	gastric adenocarcinoma Aliases: adenocarcinoma of stomach stomach adenocarcinoma	A4GALT A4GNT ACOT1 ANXA7 CAT CD44 CEACAM5 CEACAM6 CFC1 CYP1A1 CYP2E1 ENO1 FASN GAD1 GALNT18 GALNT2 GALNTL5 GPX1 HPGDS LGALS3 MAPK14 MGAT5 MSLN MTAP PIK3CA PIK3CB PIK3CD PIK3CG PLA2G2A PLCE1 PLCG1 PRKAA2 PTEN PTGS2 SDHA SMUG1 SULT1E1 TP53 VTCN1	10232 1048 1432 1543 1571 168391 2023 2194 23583 2571 2590 27306 2876 310 374378 3958 4249 4507 4680 51146 51196 5290 5291 5293 5294 5320 5335 53947 5563 55997 5728 5743 6389 641371 6783 7157 79679 847 960	Homo sapiens (human)
DOID:13328	diabetic cataract Aliases: Cataract - diabetic	ACE AKR1A1 AKR1B10 AKR1B1 ALDH2 ATP6AP2 ATP6V0A2 B4GALT2 CAT CD14 CD74 CDH13 FUCA1 GAD1 GAD2 GALK1 GALT GAPDH GCK GGT1 GLO1 GLUL HK2 HS6ST3 ICAM1 ISYNA1 LGALS1 LGALS3 LIPG MBL2 OGG1 OGT PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G7 PNP PNPLA2 PRKAA2 PRNP PTEN PTGS2 RENBP RPE RTN4R SDC1 SDHB SELE SELL SELP SIRT4 SIRT6 SORD SRGN ST3GAL4 ST8SIA4 TM7SF2 UMOD UPP1 VCAM1	1012 10159 10327 142 1636 217 231 23409 23545 2517 2571 2572 2584 2592 2597 2645 266722 2678 2739 2752 3099 3383 3956 3958 4153 4860 4968 51477 51548 5290 5291 5293 5294 5552 5563 5621 57016 57104 5728 5743 5973 6120 6382 6390 6401 6402 6403 6484 65078 6652 7108 7369 7378 7412 7903 7941 847 8473 8704 929 9388 972	Homo sapiens (human)
DOID:3753	Hermansky-Pudlak syndrome	CHI3L1 LGALS3 PI4K2A SFTPA1 SFTPC SLC35D3	1116 340146 3958 55361 6440 653509	Homo sapiens (human)
DOID:11355	bladder calculus	CEACAM5 CEACAM7 DPEP1	1048 1087 1800	Homo sapiens (human)
DOID:5509	childhood ependymoma	AKR1A1 ASAH1 CALR CD44 IDH1 L1CAM PIK3CA PIK3CB PIK3CD PIK3CG PTEN	10327 3417 3897 427 5290 5291 5293 5294 5728 811 960	Homo sapiens (human)

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