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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 **1801 - 1825** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0060807	syndromic X-linked intellectual disability Najm type Aliases: MICPCH X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome mental retardation and microcephaly with pontine and cerebellar hypoplasia	ATP6V0A2 ATP6V1A B3GALNT2 B4GAT1 CRPPA DAG1 DHCR24 DLST FIG4 FKRP FKTN HSPG2 LARGE1 NSDHL PAFAH1B1 PIGP PIGQ POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1 SDC2 STS TMTC3	10329 10585 11041 148789 160418 1605 1718 1743 2218 23545 29954 3339 412 5048 50814 51227 523 55624 6383 729920 79147 84197 84892 9091 9215 9896	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:0110299	autosomal recessive limb-girdle muscular dystrophy type 2I Aliases: LGMD2I Limb-girdle muscular dystrophy due to FKRP deficiency MDDGC5 muscular dystrophy limb-girdle type 2I muscular dystrophy-dystroglycanopathy (limb-girdle) type C 5 muscular dystrophy-dystroglycanopathy limb-girdle FRKP-related	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:3211	lysosomal storage disease Aliases: disorder of lysosomal enzyme inborn lysosomal enzyme disorder lysosomal storage metabolism disorder	hex-1	180533	Caenorhabditis elegans
DOID:1824	status epilepticus Aliases: Grand mal status	Apod Gsk3b Idh2 Il6st Kcnj11 Ogg1 Pgf Tnf	11815 16195 16514 18294 18654 21926 269951 56637	Mus musculus (house mouse)
DOID:0080191	PTEN hamartoma tumor syndrome	PIK3CA PIK3CB PIK3CD PIK3CG PTEN	5290 5291 5293 5294 5728	Homo sapiens (human)
DOID:1387	hypolipoproteinemia Aliases: Hypolipoproteinaemia	EFNA5 GPLD1 HADHA HADHB HSD11B1 HSPG2 IL18R1 LCAT LGALS1 LPL PIK3C2A PLA2G10 PLA2G2A PLA2G7 ST8SIA4	1946 2822 3030 3032 3290 3339 3931 3956 4023 5286 5320 7903 7941 8399 8809	Homo sapiens (human)
DOID:9970	obesity	ACOX1 Cnx99A Gapdh1 Gapdh2 Hex-t1 Hex-t2 INPP5E N Sdc Tl Zw	117364 31293 32545 32974 35728 37028 37447 39404 43191 43222 44643	Drosophila melanogaster (fruit fly)
DOID:0110428	dilated cardiomyopathy 1AA Aliases: CMD1AA dilated cardiomyopathy 1AA with or without left ventricular noncompaction	ACADVL ACE BDH1 CHKB CPT2 DAG1 DOLK FASN FKRP FKTN GLB1 GPX1 HACD1 HADH HADHA HADHB HJV HMGCL HPRT1 LDHA LGALS3 LPL MDH1 MICA MTM1 NAMPT NCAM1 NDUFAB1 PCYT1A PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G7 POMT2 RENBP SDHA SDHD SLC2A10 SLC2A4	100507436 10135 1120 1376 148738 1605 1636 2194 2218 22845 2720 2876 29954 3030 3032 3033 3155 3251 37 3939 3958 4023 4190 4534 4684 4706 5130 5236 5290 5291 5293 5294 5973 622 6389 6392 6517 79147 7941 81031 9200	Homo sapiens (human)
DOID:10293	monocular esotropia	AGRN ALG9 B3GAT3 CHAT CHST3 CYB5R3 DDOST GBA1 GMPPB PGAP2 PGAP3 PIGL PIGN PIGO PIGT PIGV PIGW PIGY PMM2 SLC35A2	1103 1650 1727 23556 26229 2629 27315 284098 29925 375790 51604 5373 55650 7355 79796 84720 84992 93210 9469 9487	Homo sapiens (human)
DOID:9091	REM sleep behavior disorder Aliases: REM sleep behaviour disorder Rapid eye movement sleep behavior disorder Rapid eye movement sleep behaviour disorder	GBA1 PAFAH1B1 PRNP SMUG1	23583 2629 5048 5621	Homo sapiens (human)
DOID:0111253	neurofibromatosis 1 Aliases: NF1 Peripheral Neurofibromatosis Recklinghausen's neurofibromatosis neurofibromatosis type I von Recklinghausen Disease	APRT CD14 CD38 CEL CNTN2 DHDDS ENO2 FH G6PD HSD17B6 IDH1 IDH2 MRC1 PGD PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PTEN SDHB SDHC SDHD SMUG1 SORD	1056 2026 2271 23583 2539 3417 3418 353 4360 5226 5290 5291 5293 5294 5310 5728 6390 6391 6392 6652 6900 79947 8630 929 952	Homo sapiens (human)
DOID:1214	tympanosclerosis	Enpp1 Tlr4	18605 21898	Mus musculus (house mouse)
DOID:4418	cutaneous fibrous histiocytoma Aliases: Pleomorphic fibroma Sclerosing angioma Sclerosing angioma of skin benign Cutaneous fibrous Histiocytoma dermatofibroma fibrohistiocytic tumor fibrous histiocytoma of skin fibrous xanthoma of skin	AMACR CD44 CYP24A1 G6PD GALK1 GLB1 GPC3 HPSE ICAM1 KLRK1 LGALS3 LGALS9 MTAP NSDHL PARP1 PIK3CA PKD1 PKM PLA2G6 PLCB4 PTEN PTGS2 RECK SDHB SDHC SDHD SIRT6 SMUG1 STS VCAN	10855 142 1462 1591 22914 23583 23600 2539 2584 2719 2720 3383 3958 3965 412 4507 50814 51548 5290 5310 5315 5332 5728 5743 6390 6391 6392 8398 8434 960	Homo sapiens (human)
DOID:10541	microinvasive gastric cancer Aliases: Surface gastric cancer early gastric cancer	ACE CD44 CEACAM5 CEACAM7 FASN L1CAM MDGA2 PTEN PTGS2 SMUG1	1048 1087 161357 1636 2194 23583 3897 5728 5743 960	Homo sapiens (human)
DOID:612	primary immunodeficiency disease Aliases: hypoimmunity immune deficiency disorder immunodeficiency syndrome	Il6st Tlr1 Tlr2 Tlr4 Tlr6	16195 21897 21898 21899 24088	Mus musculus (house mouse)
DOID:6688	autoimmune lymphoproliferative syndrome Aliases: ALPS Canale-Smith syndrome	ABO ACAN ACE ACHE ACSBG1 AKR1A1 ANXA5 ARSD ASAH2 ATP6AP2 B3GAT1 C1GALT1 C1GALT1C1 CALR CAT CD14 CD177 CD1D CD22 CD248 CD38 CD44 CD48 CD55 CD74 CEACAM5 CEL CHI3L1 CLEC16A CLEC7A CNTN2 CPT1C CRYL1 CYP19A1 CYP21A2 CYP24A1 CYP27B1 CYP2B6 CYP2C19 CYP2E1 CYP2R1 CYP3A5 DAG1 DGCR2 DHCR7 DLAT EBP ENO1 ENO2 ENO3 EXT1 EXT2 FASN FCER2 FCGR3B FCN1 FCN2 FH FOLR2 FUCA1 FUCA2 FUT1 FUT2 GAD1 GAD2 GAPDH GCK GLUL GPC3 GPI GPX1 HK1 HMMR HPGDS HPRT1 HPSE HSPG2 ICAM1 IL18R1 IL18RAP IL1R1 IL1RAPL1 IL1RL1 INPP5D KLRB1 KLRC1 KLRD1 KLRK1 LGALS1 LGALS3 LGALS8 LGALS9 LYPLA1 LYZ MAG MAN2A1 MANEA MASP2 MBL2 MICA MLYCD MRC1 NAMPT NCAM1 NEU1 NT5E PARG PARP1 PARP9 PIGA PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G1B PLA2R1 PLB1 PLCG2 PLD1 PNP PRKAA2 PSMD10 PTEN PTGS2 SCD SDC1 SELL SELP SIGLEC1 SLC27A5 SLC35B2 SLC37A4 SMUG1 SOAT1 SPHK1 SPHK2 TALDO1 TPI1 VCAM1 VTCN1	100507436 10135 10159 10327 10434 1048 1056 10682 10747 10855 10998 11141 1116 120227 126129 142 151056 1555 1557 1571 1577 1588 1589 1591 1594 1604 1605 1636 1717 1737 176 2023 2026 2027 2131 2132 2194 2208 2215 2219 2220 2271 22914 22925 23205 23274 23417 2350 23583 2517 2519 2523 2524 2542 2571 2572 2597 2645 27087 2719 27306 2752 28 2821 2876 29071 308 3098 3161 3251 3339 3383 347734 3554 3635 3820 3821 3824 3956 3958 3964 3965 4069 4099 4124 414 4153 43 4360 4684 4758 4860 4907 51084 5277 5290 5291 5293 5294 5315 5319 5336 5337 5563 56624 56848 56913 57124 57126 5716 5728 5743 6319 6382 6402 6403 64581 6614 6646 6888 6900 7167 7412 79679 79694 811 83666 847 8505 8807 8809 8877 912 9173 929 933 952 960 962 972 9993	Homo sapiens (human)
DOID:8125	osteochondrosis Aliases: Epiphyseal necrosis apophysitis epiphysitis osteochondritis osteochondritis juvenilis	COL9A2	1298	Homo sapiens (human)
DOID:240	iris disease	ACAN ACE AKR1B1 CD14 CYP24A1 CYP27B1 EXTL3 ICAM1 IL1RAP MICA OVGP1 PIK3CA PIK3CB PIK3CG PLA2G15 RPE RTN4R SMUG1 TM7SF2 VCAN VTCN1	100507436 1462 1591 1594 1636 176 2137 231 23583 23659 3383 3556 5016 5290 5291 5294 6120 65078 7108 79679 929	Homo sapiens (human)
DOID:2043	hepatitis B Aliases: chronic hepatitis B hepatitis B infection	Tnf Ugt1a1 Ugt1a6	113992 24835 24861	Rattus norvegicus (Norway rat)
DOID:1214	tympanosclerosis	Enpp1 Tlr4	29260 85496	Rattus norvegicus (Norway rat)
DOID:5199	ureteral obstruction	parp1	560788	Danio rerio (zebrafish)
DOID:0080109	infantile myofibromatosis Aliases: lipofibromatosis	ACAN SMUG1	176 23583	Homo sapiens (human)
DOID:2997	Sertoli-Leydig cell tumor	HSD17B1 LGALS3	3292 3958	Homo sapiens (human)
DOID:0050156	idiopathic pulmonary fibrosis Aliases: FIBROCYSTIC PULMONARY DYSPLASIA IDIOPATHIC PULMONARY FIBROSIS, FAMILIAL cryptogenic fibrosing alveolitis	parp1	560788	Danio rerio (zebrafish)

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