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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 **2776 - 2800** of **7942** in total

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Disease ID	Disease Name ▼	Gene Symbol	Gene ID	Organism
DOID:0112237	lissencephaly 1 Aliases: LIS1 PAFAH1B1-related lissencephaly	PAFAH1B1	5048	Homo sapiens (human)
DOID:3382	liposarcoma Aliases: lipomatous cancer	CALR CD38 CPM ENPP2 FASN GPNMB KL NANS PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PNPLA2 PNPLA3 PSMD10 PTEN SDC1 SMUG1 STS	10457 1368 142 2194 23583 412 5168 5290 5291 5293 5294 54187 57104 5716 5728 6382 80339 811 9365 952	Homo sapiens (human)
DOID:3153	lipomatosis Aliases: multiple lipomatosis	CEL PIK3CA PIK3CB PIK3CD PIK3CG PNPLA6 PTEN	1056 10908 5290 5291 5293 5294 5728	Homo sapiens (human)
DOID:3315	lipoma Aliases: Lipomatous neoplasm Lipomatous tumor benign lipomatous tumor benign tumor of Adipose tissue tumor of adipose tissue	ACAN ALPP AMACR ATRNL1 BAAT CPM DCN PIK3CA PTEN PYGM SDHB SDHC SDHD SIRT6 SMUG1	1368 1634 176 23583 23600 250 26033 51548 5290 570 5728 5837 6390 6391 6392	Homo sapiens (human)
DOID:14498	lipoid proteinosis Aliases: Lipid proteinosis URBACH-WIETHE DISEASE	SFTPC	6440	Homo sapiens (human)
DOID:10966	lipoid nephrosis Aliases: Minimal Change Glomerulonephritis Minimal change disease Nephrotic syndrome with lesion of minimal change glomerulonephritis Nephrotic syndrome with lesion of minimal change nephrotic syndrome	ACAT1 ACE ALOX5 CALR CHST14 CNTN1 CYP2C19 CYP3A4 CYP3A5 DGAT1 DGKE EXT1 FCGR3B GLA GLO1 GPAM GPC3 GPC5 HPGDS HPSE HSD11B2 HSPG2 IL1R1 KL LCAT LGALS1 LIPC LTA4H LYZ MLYCD NAGLU OGA PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLA2G7 PLA2R1 PLB1 PLCE1 PLCG2 PMM2 PTGS2 SDC1 SDC2 SGPL1 SLC17A5 STS TREH VCAM1	10724 10855 11181 113189 1272 151056 1557 1576 1577 1636 2131 2215 2262 22925 23417 240 26503 2717 2719 27306 2739 3291 3339 3554 38 3931 3956 3990 4048 4069 412 4669 51196 5290 5291 5293 5294 5310 5336 5373 5743 57678 6382 6383 7412 7941 811 8526 8694 8879 9365	Homo sapiens (human)
DOID:811	lipodystrophy	AGL AGPAT1 AGPAT2 APRT ATP6V0A2 ATP6V1A B4GALT7 CD38 DDOST DOLK FKTN FUCA1 GPC3 LPIN1 LPIN2 LPL PARP2 PCK1 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PMM2 PNPLA2 SCD SDHA SMUG1 XYLT2	10038 10554 10555 11285 1650 178 2218 22845 23175 23545 23583 2517 2719 353 4023 5105 5130 523 5290 5291 5293 5294 5373 57104 6319 6389 64132 952 9663	Homo sapiens (human)
DOID:11712	lipoatrophic diabetes mellitus Aliases: lipoatrophic diabetes	AGL AGPAT1 AGPAT2 APRT ATP6V0A2 ATP6V1A B4GALT7 CD38 DDOST DOLK FKTN FUCA1 GPC3 LPIN1 LPIN2 LPL PARP2 PCK1 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PMM2 PNPLA2 SCD SDHA SMUG1 XYLT2	10038 10554 10555 11285 1650 178 2218 22845 23175 23545 23583 2517 2719 353 4023 5105 5130 523 5290 5291 5293 5294 5373 57104 6319 6389 64132 952 9663	Homo sapiens (human)
DOID:9455	lipid storage disease Aliases: Lipoid storage diseas inborn lipid storage disorder lipoidosis	AGA ARSA ARSB ASAH1 CAT CEL CHIT1 CTSA CYP27A1 FADS2 G6PC1 G6PD GAA GALC GBA1 GBE1 GDPD3 GLA GLB1 GNPTAB GNPTG GUSB ICAM1 IDS IDUA LGALS3 LIPA LIPF LPL LSS MANBA MGAM NAGA NAGPA NCAM1 NT5E OGA PSAP PTGDS SCD SELE SFTPD SI SLC2A3 SMPD1 SMUG1 SOAT2 UGCG UGT1A1 UMOD VCAM1	1056 10724 1118 1593 175 23583 2538 2539 2548 2581 2629 2632 2717 2720 2990 3383 3423 3425 3958 3988 4023 4047 410 411 4126 427 4668 4684 4907 51172 54658 5476 5660 5730 6319 6401 6441 6476 6515 6609 7357 7369 7412 79153 79158 8435 84572 847 8513 8972 9415	Homo sapiens (human)
DOID:3241	lipid pneumonia Aliases: Exogenous lipoid pneumonia Lipoid pneumonitis	SMUG1	23583	Homo sapiens (human)
DOID:3146	lipid metabolism disorder Aliases: dyslipidemia fatty acid metabolism disorder	Cpt1a Lep Ppara	12894 16846 19013	Mus musculus (house mouse)
DOID:3146	lipid metabolism disorder Aliases: dyslipidemia fatty acid metabolism disorder	Cpt1a Lep Ppara	25608 25747 25757	Rattus norvegicus (Norway rat)
DOID:3146	lipid metabolism disorder Aliases: dyslipidemia fatty acid metabolism disorder	CPT2	38355	Drosophila melanogaster (fruit fly)
DOID:3146	lipid metabolism disorder Aliases: dyslipidemia fatty acid metabolism disorder	ALDH3A2 CPT1A CPT2 CYP7B1 DGAT1 DHCR24 FADS2 HADHA HADHB HSD17B4 LEP LIPC LPIN1 LPIN2 LPIN3 PPARA	1374 1376 1718 224 23175 3030 3032 3295 3952 3990 5465 64900 8694 9415 9420 9663	Homo sapiens (human)
DOID:9297	lip disease Aliases: disease of lips	CLEC7A OCRL	4952 64581	Homo sapiens (human)
DOID:9854	lingual-facial-buccal dyskinesia Aliases: Oro-facial dyskinesia	ACE ACHE ACO2 AGA ALDH5A1 ALDH7A1 ATP6V1A B3GALNT2 B4GALNT1 COMT CYB5R3 CYP17A1 CYP1A2 CYP21A2 CYP2B6 CYP3A4 CYP3A5 CYP4F3 DHCR7 DHDDS ECHS1 FOLR2 G6PD GAD1 GBA1 GCDH GFRA2 GLUL GPX1 HEXA HEXD HPGDS HPRT1 HSPG2 INPP5K LMAN2L MAN1B1 MAN2B1 MBOAT7 MECR MYORG NDST1 NGLY1 NTNG1 OGA OGDH PAFAH1B1 PDHA1 PGAP1 PGAP3 PGP PIGC PIGN PIGP PIGQ PIK3CA PIP4K2A PIP4K2C PLB1 PMM2 PPT1 PRNP PSAP PTEN RENBP SGSH SLC26A2 SLC2A3 SLC35A1 ST3GAL3 ST3GAL5 SUCLA2 SYNJ1 TECR TPI1 TUSC3	10559 10724 11253 1312 148789 151056 1544 1555 1576 1577 1586 1589 1636 1717 1727 175 1836 1892 22854 2350 23556 2539 2571 2583 2629 2639 2675 27306 2752 283871 284004 2876 3073 3251 3339 3340 4051 4125 43 4967 50 501 5048 51102 51227 5160 51763 523 5279 5290 5305 5373 5538 55768 5621 5660 5728 57462 5973 6448 6487 6515 7167 79143 7915 79837 7991 79947 80055 81562 8803 8867 8869 9091 93210 9524	Homo sapiens (human)
DOID:0111530	linear nevus sebaceous syndrome Aliases: JNP Jadassohn nevus phakomatosis SFM syndrome Schimmelpenning Feuerstein Mims syndrome Schimmelpenning syndrome Solomon syndrome nevus sebaceus of Jadassohn nevus sebaceus syndrome organoid nevus phakomatosis organoid nevus syndrome	ENPP1	5167	Homo sapiens (human)
DOID:1577	limited scleroderma Aliases: Limited cutaneous systemic sclerosis systemic sclerosis, limited	Pgf	94203	Rattus norvegicus (Norway rat)
DOID:1577	limited scleroderma Aliases: Limited cutaneous systemic sclerosis systemic sclerosis, limited	Pgf	18654	Mus musculus (house mouse)
DOID:1577	limited scleroderma Aliases: Limited cutaneous systemic sclerosis systemic sclerosis, limited	CD22	933	Homo sapiens (human)
DOID:11724	limb-girdle muscular dystrophy Aliases: Erb's muscular dystrophy Leyden-Mbius muscular dystrophy limb girdle muscular dystrophy	fkrp	100145309	Xenopus tropicalis (tropical clawed frog)
DOID:11724	limb-girdle muscular dystrophy Aliases: Erb's muscular dystrophy Leyden-Mbius muscular dystrophy limb girdle muscular dystrophy	Fkrp	308390	Rattus norvegicus (Norway rat)
DOID:11724	limb-girdle muscular dystrophy Aliases: Erb's muscular dystrophy Leyden-Mbius muscular dystrophy limb girdle muscular dystrophy	fkrp.L	108698503	Xenopus laevis (African clawed frog)
DOID:11724	limb-girdle muscular dystrophy Aliases: Erb's muscular dystrophy Leyden-Mbius muscular dystrophy limb girdle muscular dystrophy	ACAN ACE ACHE AGK AGL ALDH7A1 ALOX12 ALPP APRT ATRNL1 B3GALNT2 B4GALNT2 B4GAT1 CD44 CHKA CHKB CRPPA CTNS DAG1 DCN DPEP1 DPM1 DPM2 DPM3 ENO1 FKRP FKTN GAA GK GLB1 GMPPB GNE HACD1 HPGDS HSPG2 IDH2 IMPA1 INPP5B INPP5K LARGE1 LARGE2 LGALS3 MBL2 MGAM PARP1 PIK3C2A PMM2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRG2 PRKAA2 PYGM RGN RXYLT1 SDC2 SI SIRT2 SLC3A1 ST3GAL4 SYNJ1 SYNJ2	10020 10329 10585 11041 1119 1120 120071 124872 142 148789 1497 1605 1634 1636 176 178 1800 2023 2218 22933 239 250 2548 26033 2710 2720 27306 29925 29954 3339 3418 353 3612 3633 3958 4153 43 501 51763 5286 5373 54344 5553 55624 5563 55750 56983 5837 6383 6476 6484 6519 729920 79147 84197 84892 8813 8818 8867 8871 8972 9104 9200 9215 960	Homo sapiens (human)
DOID:11724	limb-girdle muscular dystrophy Aliases: Erb's muscular dystrophy Leyden-Mbius muscular dystrophy limb girdle muscular dystrophy	fkrp	571426	Danio rerio (zebrafish)

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