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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 **3851 - 3875** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:0110728	neuronal ceroid lipofuscinosis 5 Aliases: CLN5 neuronal ceroid lipofuscinosis 5 variable age of onset	ACLY ARSG CLN5 EPM2A GAD1 GAD2 LGALS1 PKD1 PPT1 PPT2 PSAP	1203 22901 2571 2572 3956 47 5310 5538 5660 7957 9374	Homo sapiens (human)
DOID:2913	acute pancreatitis	ACE ADH1B ADH1C ADH4 ADH5 AGPAT2 AKR1A1 AKR1B10 ALDH2 AMT AMY2A BCKDHA BCKDHB CAT CD14 CD38 CEACAM5 CEL CPTP CYP1A1 CYP24A1 CYP2E1 DBT FCGR3B FUT2 G6PC1 GPIHBP1 HMGCL HPSE ICAM1 ISYNA1 KL LEP LGALS3 LPL MBL2 MMUT MTAP PCCA PCCB PIK3CA PIK3CB PIK3CD PIK3CG PLA2G2A PLA2G7 PLAUR PNLIP PNLIPRP2 PTEN PTGS2 QTRT1 REG1B REG3G SELE SELL SFTPD SIRT2 SLC17A5 SLC37A4 SMUG1 SPHK2 ST8SIA4 SULF1 SULF2 TIGAR TM7SF2 UGT1A7 UMOD VCAM1	10327 1048 10555 1056 10855 125 126 127 128 130120 1543 1571 1591 1629 1636 217 2215 22933 23213 23583 2524 2538 2542 26503 275 279 3155 3383 338328 3952 3958 4023 4153 4507 4594 5095 5096 51477 5290 5291 5293 5294 5320 5329 5406 5408 54577 55959 56848 57016 57103 5728 5743 593 594 5968 6401 6402 6441 7108 7369 7412 7903 7941 80772 81890 847 929 9365 952	Homo sapiens (human)
DOID:1564	fungal infectious disease Aliases: mycosis	CLEC12A CLEC6A CLEC7A CYP51A1 ICAM1 IGF2R IMPA1 MBL2 NCAM1 PFKFB3 PRG2 SMUG1	1595 160364 23583 3383 3482 3612 4153 4684 5209 5553 64581 93978	Homo sapiens (human)
DOID:14789	spondyloepiphyseal dysplasia congenita Aliases: Late Spondyloepiphyseal Dysplasia	ACAN CHST3 GLB1	176 2720 9469	Homo sapiens (human)
DOID:4926	bronchiolo-alveolar adenocarcinoma Aliases: Bronchioalveolar lung carcinoma Bronchioloalveolar carcinoma Minimally Invasive Lung Adenocarcinoma	CYP19A1 GPX3 GPX7 HPGDS HSD11B1 HYAL2 MDH2 NCAM1 PIK3CA PTEN SFTPA2 SFTPC SLC2A10 TP53	1588 27306 2878 2882 3290 4191 4684 5290 5728 6440 7157 729238 81031 8692	Homo sapiens (human)
DOID:0111385	inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1 Aliases: IBMPFD1 MSP1 multisystem proteinopathy 1	GNE MASP1	10020 5648	Homo sapiens (human)
DOID:0111352	D-2-hydroxyglutaric aciduria 2 Aliases: D2HGA2	IDH2	3418	Homo sapiens (human)
DOID:10881	hand, foot and mouth disease Aliases: Vesicular stomatitis and exanthem	CERS1	10715	Homo sapiens (human)
DOID:0060060	non-Hodgkin lymphoma	ACAA1 ACACA ACE ACSBG1 AKR1A1 AKR1C1 AKR1C3 ALPP ANXA5 ANXA7 APRT ATRNL1 CAT CD14 CD22 CD33 CD38 CD44 CD55 CDH13 CFC1 COMT CYP17A1 CYP1A1 CYP1B1 CYP24A1 CYP27B1 CYP2B6 CYP2C9 CYP2E1 EPHX2 FCGR3B FCN2 FH G6PD GBA1 GPX1 HPGDS ICAM1 IDH1 IDH2 IGF2R KLRK1 LGALS1 LGALS3 MASP2 MCAT MTAP NCAM1 NTHL1 OGG1 PAFAH1B1 PARP1 PC PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 SELE SELL SHMT1 SHMT2 SLC35B2 SMUG1 SOAT1 TMEM260 VCAM1 VTCN1	1012 10327 10747 1312 142 1543 1545 1555 1559 1571 1586 1591 1594 1604 1636 1645 2053 2215 2220 2271 22914 23205 23583 250 2539 26033 2629 27306 27349 2876 30 308 31 310 3383 3417 3418 347734 3482 353 3956 3958 4507 4684 4913 4968 5048 5091 5290 5291 5293 5294 54916 55997 5728 5743 6401 6402 6470 6472 6646 7412 79679 847 8644 929 933 945 952 960	Homo sapiens (human)
DOID:0090041	torsion dystonia 4	ALDH5A1	7915	Homo sapiens (human)
DOID:2712	phimosis Aliases: Tight foreskin Tight frenulum	CYP1A1 CYP1B1 CYP27B1 SRD5A2	1543 1545 1594 6716	Homo sapiens (human)
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:8553	pyoderma gangrenosum	SOAT1	6646	Homo sapiens (human)
DOID:4308	polyradiculoneuropathy	B3GAT1 MAG	27087 4099	Homo sapiens (human)
DOID:0081326	oxoglutarate dehydrogenase deficiency Aliases: Oxoglutaric aciduria alpha-ketoglutarate dehydrogenase deficiency	OGDH OGDHL	4967 55753	Homo sapiens (human)
DOID:0060576	3MC syndrome 2	COLEC11 MASP1	5648 78989	Homo sapiens (human)
DOID:3389	Papillon-Lefevre disease Aliases: Papillon Lefevre syndrome Papillon-Lefvre syndrome	ABO FIG4 GAL3ST1 SLC35A1	10559 28 9514 9896	Homo sapiens (human)
DOID:1742	drug psychosis Aliases: Drug-induced psychosis Drug-induced psychotic disorder	ACE CALR COMT GAD1 GAD2 HPGDS	1312 1636 2571 2572 27306 811	Homo sapiens (human)
DOID:5230	hepatoerythropoietic porphyria	HPSE	10855	Homo sapiens (human)
DOID:0070141	autosomal recessive cutis laxa type II classic type Aliases: ARCL2, Debre type ARCL2, classic type	ATP6AP1 ATP6V0A2 ATP6V1A 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 523 5336 537 5373 55556 79644 81031 847 9469 9487 9791	Homo sapiens (human)
DOID:0110861	autosomal recessive polycystic kidney disease Aliases: Arpkd Pkhd1 Polycystic Kidney Disease, Infantile, Type I Polycystic Kidney and Hepatic Disease 1	ACE AKT1 CD14 CD44 CYP4A11 CYP4A22 CYP7B1 DOLK EOGT HJV INPP5E MPI PIK3CA PKD1 PKD2 PNPLA6 UMOD	10908 148738 1579 1636 207 22845 284541 285203 4351 5290 5310 5311 56623 7369 929 9420 960	Homo sapiens (human)
DOID:14116	multiple symmetric lipomatosis Aliases: LIPODYSTROPHY, CEPHALOTHORACIC LIPOMATOSIS, FAMILIAL BENIGN CERVICAL Launois-Bensaude's lipomatosis Madelung's neck cervical Symmetrical Lipomatosis multiple symmetrical lipomatosis	ACAN AMACR CEL CPM DCN PIK3CA PIK3CB PIK3CD PIK3CG PNPLA6 PTEN PYGM	1056 10908 1368 1634 176 23600 5290 5291 5293 5294 5728 5837	Homo sapiens (human)
DOID:9810	polyarteritis nodosa	ABO ACE B3GAT1 CEL CHI3L1 CYP21A2 FCGR3B GBA3 GFRA1 GLA INPP4B KLRB1 MICA NAAA NT5E PARP9 PTEN SELP SLC27A5 SMUG1 TPI1 VCAM1	100507436 1056 10998 1116 1589 1636 2215 23583 2674 27087 27163 2717 28 3820 4907 5728 57733 6403 7167 7412 83666 8821	Homo sapiens (human)
DOID:0110825	hereditary spastic paraplegia 9B Aliases: SPG9B autosomal recessive complex spastic paraplegia type 9B autosomal recessive spastic paraplegia 9B	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)
DOID:114	heart disease	ABO ACACA ACAN ACAT1 ACE ACHE ACLY ACOX2 ACSM3 ACSS2 ADH1B ADH1C AKR1A1 AKR1B1 ALDH2 ALDH7A1 ALG9 ALOX12 ALOX5 ALPP AMACR ANXA5 ANXA7 APRT ARSA ARSD ARSI ATP6AP2 ATRNL1 C1GALT1 CALR CAT CD14 CD38 CD44 CD74 CDH13 CEACAM5 CERS2 CFC1 CHI3L1 CHST3 COG2 COL9A2 COMT CYP11B1 CYP11B2 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP27A1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP2J2 CYP3A5 CYP4F2 CYP4F3 CYP7A1 DBT DCN DEGS1 DGKE DHCR7 DPEP1 DSE EFNA5 ENO1 ENPP1 EPHX2 FADS1 FADS2 FCGR3B FCN2 FDFT1 FREM1 FUT2 G6PD GAD1 GAL3ST1 GALNS GCK GGT1 GLA GLUL GML GNPDA2 GPC6 GPI GPIHBP1 GPX1 GPX3 GSK3B H6PD HADHB HPGDS HPSE HSD11B1 HSD11B2 HSD17B12 ICAM1 IDH2 IGF2R IL18R1 IL18RAP IL1R1 IL1RAPL1 IL1RL1 IMPA1 INPP5K KAT2A KAT2B KHK KL LCAT LGALS1 LGALS2 LGALS3 LIPA LIPC LIPG LPIN1 LPL LTA4H LTC4S MACROD1 MASP1 MBL2 MBOAT7 MGAM MGAT1 MGLL MICA MPI MRC1 NAAA NAGLU NAMPT NT5E OGA OGG1 OGT OLR1 PARP1 PC PIK3CA PIK3CB PIK3CD PIK3CG PLA2G10 PLA2G15 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLA2G7 PLAUR PLB1 PLCB1 PLCE1 PLPP3 PMM2 PNPLA2 PNPLA3 PPARGC1A PRKAA2 PTGDS PTGIS PTGS1 PTGS2 RENBP RPE SCD SELE SELP SFTPA1 SFTPA2 SFTPD SHMT1 SI SIRT2 SIRT6 SLC17A5 SLC2A2 SLC2A4 SLC33A1 SLC35A1 SLC35E3 SLC5A1 SMUG1 SOAT1 SPHK2 SULT1E1 TBXAS1 TECR TM7SF2 TYMP UGT1A1 UGT1A6 UGT2B7 UMOD VCAM1 VCAN VNN1	100507436 10082 1012 10135 10159 10327 1048 10559 10724 10855 10891 11141 1116 11343 125 126 1298 1312 132789 142 1462 151056 1543 1544 1545 1555 1557 1559 1571 1573 1577 1581 158326 1584 1585 1588 1593 1629 1634 1636 1717 176 1800 1890 1946 2023 2053 217 2215 2220 2222 22796 22933 231 23175 23236 23583 23600 23659 239 240 250 2524 2539 2571 2588 26033 2645 2648 26503 2678 27163 2717 27306 2752 2765 28 2821 2876 2878 28992 2932 29940 29956 3032 308 31 310 3290 3291 3383 338328 340075 3418 3482 353 3554 3612 3795 38 3931 3956 3957 3958 3988 3990 3992 4023 4048 4051 4056 410 414 4153 4245 43 4351 4360 4669 47 4907 4968 4973 501 5091 51144 51196 51548 5167 51763 5290 5291 5293 5294 5319 5320 5321 5329 5373 54578 54658 55508 5563 55902 55997 5648 56848 56913 57104 5730 5740 5742 5743 5973 6120 6296 6319 6401 6403 6441 6470 6476 6514 6517 6523 653509 6646 6783 6916 7108 729238 7364 7369 7412 79143 7941 79796 80339 811 8309 8398 8399 847 8473 8526 8529 8560 8613 8807 8809 8850 8876 8972 9173 9197 929 9365 9388 9415 9469 9514 952 9524 9563 960 972	Homo sapiens (human)

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