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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 **3651 - 3675** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
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:0080210	primary mediastinal B-cell lymphoma Aliases: Large cell lymphoma of the mediastinum Mediastinal diffuse large-cell lymphoma with sclerosis Primary mediastinal clear cell lymphoma of B-cell type	FCER2 FUT4 PIK3CA PIK3CB PIK3CD PIK3CG	2208 2526 5290 5291 5293 5294	Homo sapiens (human)
DOID:13099	Moyamoya disease Aliases: progressive intracranial arterial occlusion	GLA PKD1 SLC2A10 SMPDL3B	2717 27293 5310 81031	Homo sapiens (human)
DOID:0111910	spermatogenic failure Aliases: SPGF	PDHA2	5161	Homo sapiens (human)
DOID:11701	selective IgA deficiency disease Aliases: Immunoglobulin A deficiency Selective immunoglobulin A deficiency selective IgA immunodeficiency	AGA CLEC16A CYP21A2 FUT2 FUT3 MBL2 PTEN SDC1	1589 175 23274 2524 2525 4153 5728 6382	Homo sapiens (human)
DOID:7849	dendritic cell sarcoma	SLC35B2	347734	Homo sapiens (human)
DOID:0090015	Cenani-Lenz syndactyly syndrome Aliases: syndactyly type 7	EXT1 EXT2 IDH1 IDH2	2131 2132 3417 3418	Homo sapiens (human)
DOID:14286	neurogenic arthropathy Aliases: Arthropathy associated with neurological disorder Charcot's arthropathy Neuropathic arthropathy	ACAN ALOX5 CD14 CHI3L1 CHST3 CNTN2 CPT2 DCN DHCR24 ENPP1 GPI HJV HK1 IL1R1 LGALS3 MBL2 PTGS1 PTGS2 SFTPD SMUG1 VCAN VTCN1	1116 1376 1462 148738 1634 1718 176 23583 240 2821 3098 3554 3958 4153 5167 5742 5743 6441 6900 79679 929 9469	Homo sapiens (human)
DOID:5688	Werner syndrome Aliases: WS Werner's syndrome adult premature ageing syndrome adult progeria	ACAN ACE ALPL APRT CAT CD55 CYP27A1 DCN ENOSF1 EXT1 FDPS G6PD GCK GGT1 GLO1 GUSB ICAM1 KL NEIL1 OGG1 PARP1 PLA2R1 PLB1 PRKAA2 PRPS1 SIRT2 SIRT6 SLC35G1	142 151056 1593 159371 1604 1634 1636 176 2131 2224 22925 22933 249 2539 2645 2678 2739 2990 3383 353 4968 51548 55556 5563 5631 79661 847 9365	Homo sapiens (human)
DOID:2945	severe acute respiratory syndrome Aliases: SARS SARS-CoV infection	ABO ACE BST2 CALR CD14 CD209 FCER2 IL18R1 IL1R1 MASP2 MBL2 PI4KB SULT1E1 TLR2 TNF	10747 1636 2208 28 30835 3554 4153 5298 6783 684 7097 7124 811 8809 929	Homo sapiens (human)
DOID:0110958	Gaucher's disease type II Aliases: GD II GD2 Gaucher Disease, Acute Neuronopathic Type Infantile Cerebral Gaucher Disease	ACE CHIT1 GBA1	1118 1636 2629	Homo sapiens (human)
DOID:0110957	Gaucher's disease type I Aliases: Acid Beta-Glucosidase Deficiency GD I GD1 Gaucher Disease, Noncerebral Juvenile Gba Deficiency Glucocerebrosidase Deficiency	ACE CHIT1 GBA1 GBA3 PAFAH1B1 PSAP UGCG	1118 1636 2629 5048 5660 57733 7357	Homo sapiens (human)
DOID:11161	neonatal respiratory failure Aliases: respiratory failure of newborn	SFTPC	6440	Homo sapiens (human)
DOID:0060232	branchiootic syndrome Aliases: BO syndrome BOR branchiootic dysplasia	AKR1C4 CNTN3 COG1 CYP2B6 DGCR2 FREM1 G6PD GAS1 GYS2 LSS NT5E SLC26A2	1109 1555 158326 1836 2539 2619 2998 4047 4907 5067 9382 9993	Homo sapiens (human)
DOID:1485	cystic fibrosis Aliases: CF mucoviscidosis	ABO ACE ACHE ACO2 ADRB3 AKR1B10 ANXA5 APRT ARSB ASAH1 ASAH2 CALR CAT CD14 CD1D CEACAM5 CEACAM6 CEL CHI3L1 CHIT1 CLEC6A CLEC7A CYP1A1 CYP1A2 CYP2C19 CYP3A4 DCN EBP EDEM1 EFNA5 ENPP7 FCGR3B FCN1 FUT1 FUT2 FUT3 FUT4 GBA2 GBA3 GCLC GLB1 GPNMB GUSB HEXA HPGDS HSD11B2 HSPG2 ICAM1 INPP5D ISYNA1 LCT LEP LPCAT1 MASP1 MASP2 MBL2 MGAM MOGS MPI PARP3 PARP9 PCK1 PGD PGM3 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKM PLA2G2A PLA2G4A PLB1 PLCB3 PLCD1 PLCZ1 PPARA PRKAA2 PRNP PRSS8 PTEN PTGES3 PTGS2 RECK RGMA SELP SFTPA1 SFTPA2 SFTPC SFTPD SI SIRT2 SLC27A5 SMPD1 SPHK2 STS SULT1E1 SUMF1 TLR4 TNF UGT1A1 VCAM1	10039 10457 1048 1056 10682 10728 10747 10998 1116 1118 151056 1543 1544 155 1557 1576 1634 1636 1946 2215 2219 22933 2523 2524 2525 2526 2720 2729 27306 28 285362 2990 3073 308 3291 3339 3383 339221 353 3635 3938 3952 411 412 4153 427 43 4351 4680 50 5105 51477 5226 5238 5290 5291 5293 5294 5310 5315 5320 5321 5331 5333 5465 54658 5563 5621 5648 5652 56624 56848 56963 57016 5728 5743 57704 57733 6403 6440 6441 64581 6476 653509 6609 6783 7099 7124 729238 7412 7841 79888 811 83666 8434 847 8972 89869 912 929 93978 9695	Homo sapiens (human)
DOID:1949	cholecystitis Aliases: acute and chronic cholecystitis acute cholecystitis acute on chronic cholecystitis chronic cholecystitis	AGA ALDOA ARSA BPGM GGT1 GPI HK1 PKLR PNPLA2 PSAP TPI1	175 226 2678 2821 3098 410 5313 5660 57104 669 7167	Homo sapiens (human)
DOID:5614	eye disease	ARSI B3GLCT CA4 CACNA2D4 CDS1 CDS2 CLN5 COL9A2 CYP1B1 CYP27A1 CYP2C19 CYP2C9 DGKG ELOVL4 ENO1 ENO2 FREM1 ICAM1 IDH3B LDHA NYX PARP1 PIK3CD PLA2G5 PNPLA2 PPT1 RPE SCD SRD5A3 SULT1E1 TLR2 TLR4 TNF VCAN	1040 1203 1298 142 145173 1462 1545 1557 1559 158326 1593 1608 2023 2026 3383 340075 3420 3939 5293 5322 5538 57104 60506 6120 6319 6783 6785 7097 7099 7124 762 79644 8760 93589	Homo sapiens (human)
DOID:0060898	Parkinson's disease 20 Aliases: early-onset Parkinson disease 20 early-onset Parkinson's disease 20	SYNJ1	8867	Homo sapiens (human)
DOID:2383	neonatal jaundice Aliases: neonatal hyperbilirubinemia neonatal icterus	ABO CAT FBP1 G6PD GALT GGT1 GPI GPX1 HK1 HPGDS SLC35A2 UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9	2203 2539 2592 2678 27306 28 2821 2876 3098 54575 54576 54577 54578 54579 54600 54657 54658 54659 56886 7355 847	Homo sapiens (human)
DOID:14004	thoracic aortic aneurysm	B3GAT3 COL9A2 PKD1 PKD2 PLOD3 SLC2A10 VCAN	1298 1462 26229 5310 5311 81031 8985	Homo sapiens (human)
DOID:11603	infant gynecomastia Aliases: Neonatal gynaecomastia breast engorgement in newborn	CYP11A1 CYP11B1 CYP17A1 CYP19A1 CYP21A2 CYP3A4 HS6ST1 HSD17B3 HSD3B2 PIK3CA PNPLA6 PTEN SDHB SDHC SDHD SMUG1 SRGN	10908 1576 1583 1584 1586 1588 1589 23583 3284 3293 5290 5552 5728 6390 6391 6392 9394	Homo sapiens (human)
DOID:4717	extragonadal germ cell cancer Aliases: extragonadal germ cell malignant tumor neoplasm of Extragonadal germ cell	PLCB3	5331	Homo sapiens (human)
DOID:0060250	idiopathic scoliosis	AACS ABO ACE ACHE ACSM1 ACSM3 ALG14 B4GALNT3 CACNA2D1 CDH13 CERS6 CHODL CHST9 CNTFR CYB5R3 DGKB ENPP3 GALNT11 GALNT16 GBE1 GFRA1 HSD17B12 IPMK ITPK1 KLRD1 LARGE1 LIPC ME3 MSMO1 OPCML PLCH1 SLC39A8 SMUG1 ST6GALNAC3 ST8SIA5 TMTC4	1012 10873 116285 1271 140578 1607 1636 1727 199857 23007 23583 253430 253782 256435 2632 2674 28 283358 29906 3705 3824 3990 43 4978 51144 5169 57452 6296 6307 63917 64116 65985 781 83539 84899 9215	Homo sapiens (human)
DOID:9008	psoriatic arthritis Aliases: arthritis psoriatica arthropathic psoriasis	ACACA ACADM ACE APRT CD14 CD248 CD38 CPT1A CPT2 CYP11B2 CYP1A1 CYP21A2 CYP24A1 CYP27A1 CYP27B1 CYP2B6 CYP2C19 DLAT ELOVL6 FADS2 FCGR3B FUT1 KLRB1 MBL2 MICA PCCA PCCB PFKFB3 PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G4A PTGS1 PTGS2 SELL SFTPA2 SIRT6 SLC2A4 TNF UGCG XYLT2	100507436 1374 1376 1543 1555 1557 1585 1589 1591 1593 1594 1636 1737 2215 2523 31 34 353 3820 4153 5095 5096 51548 5209 5236 5290 5291 5293 5294 5315 5321 57124 5742 5743 6402 64132 6517 7124 729238 7357 79071 929 9415 952	Homo sapiens (human)
DOID:1731	histoplasmosis	ABO ATP6V1A CAT CD14 CD209 CEL CLEC1A CLEC7A CYP2C19 CYP51A1 LGALS1 MBL2 MRC1	1056 1557 1595 28 30835 3956 4153 4360 51267 523 64581 847 929	Homo sapiens (human)

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