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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 **7051 - 7075** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism
DOID:539	ophthalmoplegia Aliases: Total ophthalmoplegia extraocular muscle paralysis eye movement paralysis oculomotor paralysis	ACO2 ACOX1 ACSL4 ADPRS AGK AGRN ALDH5A1 ALDH7A1 ALG11 ALG3 ALG6 ATP6V0A2 ATP6V1A B3GALNT2 CA4 CACNA2D2 CACNA2D4 CHAT CHST14 COG5 COLEC11 COMT CYB5R3 CYP1B1 DDOST DHCR24 DHDDS ECHS1 ELOVL4 EOGT EXT2 FCSK FKRP FKTN GALC GAS1 GBA1 GFPT1 GK GMPPB GPC1 HACD1 HGSNAT HIBCH HSD17B4 IDH3A IDH3B INPP5E INPP5K L1CAM L2HGDH LARGE1 MDH2 MPDU1 MTM1 MTMR14 NAGA NGLY1 NSDHL NYX OCRL PDHA1 PIGL PIGP PIGQ PIGT PIGY PLA2G6 PMM2 PNPLA6 POMGNT1 POMK POMT1 POMT2 PTEN RFT1 SDHA SDHB SDHD SGPL1 SLC2A10 SLC35A2 SLC39A8 SMC3 SUCLA2 TYMP	10195 10466 10585 10908 1103 113189 1312 138050 148789 1545 1650 1718 1727 1890 1892 197258 2132 2182 2218 23545 2581 2619 26275 2629 2673 2710 2817 285203 29925 29929 29954 3295 3419 3420 375790 3897 4191 440138 4534 4668 4952 50 501 50814 51 51227 5160 51604 51763 523 5373 54936 55624 55750 55768 56623 5728 60506 6389 6390 6392 64116 64419 6785 7355 762 78989 79147 7915 79944 79947 81031 8398 84197 84992 8803 8879 9091 9126 91869 9200 9215 9254 93589 9487 9526	Homo sapiens (human)
DOID:12270	coloboma Aliases: coloboma of eye coloboma of macula congenital ocular coloboma	ALDH1A3 ALDH7A1 ALG2 ALG3 ATP6V1A B3GALNT2 B3GLCT B4GALT7 B4GAT1 CRPPA CYP1B1 DAG1 DHCR7 FKRP FKTN GAS1 GMPPA GMPPB INPP5E LARGE1 PAFAH1B1 PIGL PNPLA6 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRPS1 RXYLT1 SRD5A3	10195 10329 10585 10908 11041 11285 145173 148789 1545 1605 1717 220 2218 2619 29925 29926 29954 501 5048 523 55624 5631 56623 729920 79147 79644 84197 84892 85365 9215 9487	Homo sapiens (human)
DOID:5723	optic atrophy Aliases: atrophy of optic disc	ACO2 ACOX1 AGXT ALG13 ALG3 ARSA ATP6V1A B3GALNT2 B3GLCT B4GAT1 CA4 CHSY1 COMT CRPPA CYP1B1 CYP2B6 CYP7B1 DAG1 DGKG EBP ECHS1 ENO2 FCSK FH FKRP FKTN GALC GLA GLB1 GMPPA GMPPB GPAA1 HGSNAT HSD17B6 IDH3A IDH3B INPP5K L2HGDH LARGE1 MAG MCAT MECR MMUT MOGS MPDU1 NAGA NGLY1 PCK1 PDHA1 PDHX PIGQ PIK3CA PKLR PLA2G6 PNPLA6 POMGNT1 POMGNT2 POMK POMT1 POMT2 PPT1 PRKAA2 PRPS1 PSAP RPIA RXYLT1 SDHA SDHD SLC5A1 SRD5A3 ST3GAL5 STT3B SUMF1 SYNJ1 TMED9 TMTC3 TREH VCAN	10195 10329 10585 10682 10908 11041 11181 1312 138050 145173 1462 148789 1545 1555 160418 1605 1608 189 1892 197258 201595 2026 2218 2271 22856 22934 2581 2717 2720 27349 285362 29925 29926 29954 3419 3420 4099 410 4594 4668 50 51 5105 51102 5160 51763 523 5290 5313 54732 5538 55624 5563 55768 5631 5660 6389 6392 6523 729920 762 7841 79147 79644 79868 79944 8050 8398 84197 84892 8630 8733 8867 8869 9091 9215 9420 9526	Homo sapiens (human)
DOID:10907	microcephaly Aliases: Microcephalus microencephaly	ACADSB ACE ACSF3 AGA ALDH3A2 ALDH6A1 ALG11 ALG13 ALG1 ALG3 ALG9 ATP6V0A2 ATP6V1A B3GALNT2 B3GLCT B4GAT1 CAT CH25H CHKA CHKB CNTN2 COG4 COG5 COG6 COG7 COG8 COMT CPT2 CRPPA CYB5R3 DAG1 DGCR2 DHCR24 DHCR7 DHDDS DLAT DLD DPAGT1 DPM1 ETNK1 ETNK2 EXT1 EXT2 FAR1 FH FIG4 FKRP FKTN FUT8 G6PC3 GAD1 GAS1 GBA1 GLYCTK GMPPA GMPPB GNPAT HMGCL HSPG2 ICAM1 INPP5K KDSR L1CAM LARGE1 LDHD LFNG LMAN2L LSS LTC4S MAN1B1 MASP1 MBOAT7 MGAT2 MPDU1 MSMO1 MYORG NANS NDST1 NGLY1 NSDHL NTNG1 OGT PAFAH1B1 PARP11 PDHA1 PDHX PGAP1 PGD PIGC PIGH PIGP PIGQ PIGS PIGY PIK3CB PISD PMM2 POFUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PTEN RFT1 RXYLT1 SC5D SDHB SDHD SELENOI SGPL1 SLC35A1 SLC35A2 SLC35A3 SLC35C1 SMC3 SMPD3 SMPD4 ST3GAL3 ST3GAL5 STT3A STT3B SUCLA2 SUMF1 SYNJ1 TECR TUSC3 XYLT1	10195 10329 10466 10559 10585 11041 1119 1120 11253 1312 132158 1376 145173 148789 1605 1636 1717 1718 1727 1737 1738 175 1798 197257 197322 201595 2131 2132 2218 224 2271 22854 23443 23509 23545 23761 2530 2531 2571 25839 2619 2629 285362 29925 29926 29954 3155 3339 3340 3383 36 3703 3897 3955 4047 4056 4247 4329 440138 5048 50814 51227 5160 51763 5226 523 5279 5283 5291 5373 54187 55224 55343 55500 55512 55624 55627 55768 56052 5648 57097 5728 57462 57511 6307 6309 6390 6392 64131 6487 6900 729920 7355 79143 79147 79796 79868 7991 79947 80055 8050 81562 84188 84197 84342 8443 847 8473 84892 84992 85465 8803 8813 8867 8869 8879 9023 9091 9126 91869 91949 9215 92579 94005 9524 9526 9896 9993	Homo sapiens (human)
DOID:0111238	congenital muscular dystrophy-dystroglycanopathy type A13 Aliases: MDDGA13 Walker-Warburg syndrome or muscle-eye-brain disease, B3GNT1-related Walker-Warburg syndrome or muscle-eye-brain disease, B4GNT1-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A13	b4gat1	101669768	Danio rerio (zebrafish)
DOID:0070341	neonatal-onset type II citrullinemia Aliases: neonatal-onset type 2 citrullinemia	SLC25A13	10165	Homo sapiens (human)
DOID:0070342	adult-onset type II citrullinemia Aliases: citrin deficiency	SLC25A13	10165	Homo sapiens (human)
DOID:4137	common bile duct disease	SLC25A12 SLC25A13	10165 8604	Homo sapiens (human)
DOID:9273	citrullinemia Aliases: ASS deficiency deficiency of citrulline-aspartate ligase	ACOX1 ARSD GGT1 GPD2 SLC25A12 SLC25A13	10165 2678 2820 414 51 8604	Homo sapiens (human)
DOID:1852	intrahepatic cholestasis Aliases: neonatal intrahepatic cholestasis	AKR1D1 AMACR CHST3 CYP7B1 GGT1 GPD2 HSD3B7 MTM1 SC5D SLC25A12 SLC25A13	10165 23600 2678 2820 4534 6309 6718 80270 8604 9420 9469	Homo sapiens (human)
DOID:3029	colon mucinous adenocarcinoma Aliases: Colonic mucinous adenocarcinoma	CHST4	10164	Homo sapiens (human)
DOID:10923	sickle cell anemia Aliases: Hb SC disease Hb-S/Hb-C disease Hb-SS disease without crisis Hemoglobin S disease without crisis Sickle-cell/Hb-C disease without crisis drepanocytosis haemoglobin SC disease hemoglobin SC disease sickle cell anaemia	ABO ACE ALOX5 ANXA5 CAT CD14 CD38 CD55 CHIT1 COMT CYB5R3 CYP2C19 FCGR3B FDPS FH FUCA2 FUT1 G6PD GAD1 GALNT13 GAPDH GPX1 HEXA HK1 HPGDS IMPA1 KL KLRC3 LCAT LFNG LGALS3 LIPG LPCAT1 LPCAT3 LYZ MBL2 NT5E OLR1 OXCT1 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PRNP SCD5 SCD SELE SELL SELP SFTPD SLC17A5 SLC35A2 SMPD1 SMUG1 TALDO1 TNF UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9 UGT2B7 UMPS VCAM1	10162 1118 114805 1312 1557 1604 1636 1727 2215 2224 2271 23583 240 2519 2523 2539 2571 2597 26503 27306 28 2876 3073 308 3098 3612 3823 3931 3955 3958 4069 4153 4907 4973 5019 5319 5320 5321 54575 54576 54577 54578 54579 54600 54657 54658 54659 5621 56886 6319 6401 6402 6403 6441 6609 6888 7124 7355 7364 7372 7412 79888 79966 8398 847 929 9365 9388 952	Homo sapiens (human)
DOID:12241	beta thalassemia	ACOT7 ANXA5 CAT CD177 CD38 CD55 CHIT1 CHPT1 CPT1A CPT2 CRYL1 CYP2E1 CYP3A4 FUT1 FUT4 G6PD H6PD HACD1 HJV HPGDS KL LPCAT3 OGA PC PGD PRKCSH SCD SELP SLC35A2 TNF UGDH UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9 UMPS	10162 10724 1118 11332 1374 1376 148738 1571 1576 1604 2523 2526 2539 27306 308 5091 51084 5226 54575 54576 54577 54578 54579 54600 54657 54658 54659 5589 56886 56994 57126 6319 6403 7124 7355 7358 7372 847 9200 9365 952 9563	Homo sapiens (human)
DOID:10241	thalassemia Aliases: Sickle-cell thalassemia with crisis Sickle-cell thalassemia without crisis thalassemia Hb-S disease with crisis thalassemia Hb-S disease without crisis	ABO ACOT7 CD177 CD38 CD55 CHIT1 CHPT1 COL9A2 CPT1A CPT2 CRYL1 CYP2E1 CYP3A4 G6PD H6PD HACD1 HJV HK1 HPGDS LPCAT3 NAAA OGA PC PGD PKD1 PKLR SCD SLC35A2 TNF UGDH UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9 UMPS VCAM1	10162 10724 1118 11332 1298 1374 1376 148738 1571 1576 1604 2539 27163 27306 28 3098 5091 51084 5226 5310 5313 54575 54576 54577 54578 54579 54600 54657 54658 54659 56886 56994 57126 6319 7124 7355 7358 7372 7412 9200 952 9563	Homo sapiens (human)
DOID:0050678	Blau syndrome Aliases: ARTHROCUTANEOUVEAL GRANULOMATOSIS BLAUS Jabs syndrome	ATP6AP2	10159	Homo sapiens (human)
DOID:0060806	syndromic X-linked intellectual disability Hedera type Aliases: MRXE MRXSH X-linked mental retardation with epilepsy mental retardation, X-linked, syndromic, Hedera type	ATP6AP2	10159	Homo sapiens (human)
DOID:0060309	syndromic X-linked intellectual disability Aliases: syndromic X-linked mental retardation	ATP6AP2	10159	Homo sapiens (human)
DOID:0112105	X-linked parkinsonism-spasticity syndrome Aliases: X-linked Parkinsonism with spasticity XPDS	ATP6AP2	10159	Homo sapiens (human)
DOID:12385	shigellosis Aliases: Shigella boydii infectious disease Shigella flexneri infectious disease Shigella gastroenteritis Shigella sonnei infectious disease bacillary dysentery	ATP6AP2 BCKDHA CD248 CD48 CLEC7A CTSA GUSB HSD17B6 LYZ SFTPA1 ST8SIA2	10159 2990 4069 5476 57124 593 64581 653509 8128 8630 962	Homo sapiens (human)
DOID:0060135	apraxia	ATP6AP2 COG4 EPM2A GCK GPAA1 PRNP	10159 25839 2645 5621 7957 8733	Homo sapiens (human)
DOID:12387	nephrogenic diabetes insipidus	ATP6AP2 CANX G6PD L1CAM PRKAA2 PTGS2	10159 2539 3897 5563 5743 821	Homo sapiens (human)
DOID:2942	bronchiolitis	ATP6AP2 CD14 CD38 FUT2 ICAM1 IL1RL1 ISYNA1 KLRK1 MBL2 PLCG2 PTGDS SFTPA1 SFTPD	10159 22914 2524 3383 4153 51477 5336 5730 6441 653509 9173 929 952	Homo sapiens (human)
DOID:2411	granular cell tumor Aliases: neoplasm of granular cell	ATP6AP2 FASN PTEN	10159 2194 5728	Homo sapiens (human)
DOID:4028	angioma serpiginosum Aliases: Angioma serpiginosum of skin	ACE ATP6AP2 ATP6V1A C1GALT1C1 MAG PIK3CA PIK3CB PIK3CD PIK3CG PTEN SRD5A3	10159 1636 29071 4099 523 5290 5291 5293 5294 5728 79644	Homo sapiens (human)
DOID:0080205	CAKUT Aliases: Congenital anomalies of the kidney and urinary tract Renal or urinary tract malformation	ACE ATP6AP2 FREM1 PIK3CA PIK3CB PIK3CD PIK3CG	10159 158326 1636 5290 5291 5293 5294	Homo sapiens (human)

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