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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 **2451 - 2475** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:0110847	xeroderma pigmentosum variant type Aliases: XPV photosensitivity with defective DNA synthesis xeroderma pigmentosum with normal DNA repair rates	CAT COMT CYP1B1 HPGDS HPRT1 OGG1 PTEN SMUG1 TALDO1 XYLT2	1312 1545 23583 27306 3251 4968 5728 64132 6888 847	Homo sapiens (human)
DOID:13778	chancroid Aliases: Ulcus molle, skin	ACAT1 ACHE FUT4 ICAM1 LGALS3 SELE	2526 3383 38 3958 43 6401	Homo sapiens (human)
DOID:594	panic disorder Aliases: panic anxiety syndrome	ACE AKR1C1 AKR1C3 ARSI CDS1 COMT CYP2B6 CYP2C19 DGKH DLST FH GAD1 GAD2 GANC GFRA4 GLO1 GPX1 IL1R1 LDHA LDHB MANEA MBL2 MDH2 NAGLU NPL OGA OGG1 PLA2G4E PSAP SDHA SDHB SDHC SIGLEC7 SLC3A1 SRD5A1	1040 10724 123745 1312 1555 1557 160851 1636 1645 1743 2271 2571 2572 2595 27036 2739 2876 340075 3554 3939 3945 4153 4191 4669 4968 5660 6389 6390 6391 64096 6519 6715 79694 80896 8644	Homo sapiens (human)
DOID:0050117	disease by infectious agent Aliases: infectious disease	MBL2	4153	Homo sapiens (human)
DOID:5695	childhood liposarcoma Aliases: pediatric liposarcoma	CPM FASN GPNMB PIK3CA PIK3CB PIK3CD PIK3CG PNPLA2 PNPLA3 PTEN SDC1 SMUG1 STS	10457 1368 2194 23583 412 5290 5291 5293 5294 57104 5728 6382 80339	Homo sapiens (human)
DOID:12359	endocrine exophthalmos	ACHE ALDH2 APRT CD44 CYP1A1 GAPDH HAS2 ICAM1 IL18R1 LYZ NAMPT PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PRKAA2 PTGS2 SCD SELE SOAT1 SPAM1 SPHK1 ST3GAL5 ST8SIA1 VCAM1	10135 142 1543 217 2597 3037 3383 353 4069 43 5290 5291 5293 5294 5563 5743 6319 6401 6489 6646 6677 7412 8809 8869 8877 960	Homo sapiens (human)
DOID:0060692	platelet-type bleeding disorder 8 Aliases: ADP platelet receptor P2Y12 defect P2Y12 defect	ABO ATP6V0A2 CANX PDIA3	23545 28 2923 821	Homo sapiens (human)
DOID:2411	granular cell tumor Aliases: neoplasm of granular cell	ATP6AP2 FASN PTEN	10159 2194 5728	Homo sapiens (human)
DOID:3283	invasive malignant thymoma Aliases: Infiltrating Thymoma Thymoma malignant Invasive	SMUG1	23583	Homo sapiens (human)
DOID:0110636	congenital merosin-deficient muscular dystrophy 1A Aliases: CMD1A MDC1A Merosin-negative congenital muscular dystrophy congenital muscular dystrophy due to laminin alpha2 deficiency	ACACA ACHE ALDH2 B4GAT1 CD38 CHKB CNTN1 CSPG4 DCN FKRP FKTN GBE1 HACD1 HK1 LARGE1 MTM1 MTMR14 POMGNT1 POMT1 PRKAA2 SOAT1	10585 11041 1120 1272 1464 1634 217 2218 2632 3098 31 43 4534 55624 5563 64419 6646 79147 9200 9215 952	Homo sapiens (human)
DOID:1659	supratentorial cancer Aliases: Brain neoplasm, Supratentorial malignant Supratentorial tumor	IDH1	3417	Homo sapiens (human)
DOID:11771	spontaneous ocular nystagmus Aliases: Ocular nystagmus Searching eye movements visual deprivation nystagmus	ACO2 ACOX1 ADPRS AGK AGRN ALG13 ALG2 ASAH1 ATP6V1A B3GLCT CA4 CACNA2D2 CACNA2D4 CHAT COG4 CYP1B1 CYP7B1 DEGS1 DHCR24 DLAT DPAGT1 EBP ECHS1 ELOVL4 ELOVL5 EXT2 FCSK GAD1 GALC GBA1 GBA2 GMPPB GPAA1 HEXB HGSNAT HIBCH HS6ST1 HSD17B4 IDH3A IDH3B INPP5E INPP5K L1CAM L2HGDH LARGE1 MAG MAN2B1 MANBA MECR MPDU1 NAGA NANS NEU1 NT5E NYX OCRL OGT PCYT1A PDHA1 PIGN PIGQ PIGS PIGT PLA2G6 PLD3 PMM2 PNPLA6 POMGNT1 PRNP PRPS1 RPIA SDHA SDHB SDHD SGSH SLC17A5 SLC33A1 SLC35A1 SLC35A2 SLC39A8 SMC3 SMPD1 SRD5A3 ST3GAL5 STS SYNJ1 XYLT2	10559 10682 10908 1103 138050 145173 1545 1718 1737 1798 1892 197258 2132 22934 23556 23646 2571 2581 25839 26275 2629 26503 29925 3074 3295 3419 3420 375790 3897 4099 412 4125 4126 427 4668 4758 4907 4952 50 51 51102 5130 5160 51604 51763 523 5373 54187 54936 55624 55750 5621 5631 56623 57704 60481 60506 6389 6390 6392 64116 64132 6448 6609 6785 7355 762 79644 79868 79944 8398 8473 85365 8560 8733 8867 8869 9091 9126 9197 9215 9254 93589 9394 94005 9420 9526	Homo sapiens (human)
DOID:14679	VACTERL association	ENOSF1 IL18R1 OGG1 PIK3CA PTEN	4968 5290 55556 5728 8809	Homo sapiens (human)
DOID:0050127	sinusitis	CHIA LTC4S PLAUR PNP PTGDS SFTPA1 SFTPD ST8SIA4 TLR2 TLR4	27159 4056 4860 5329 5730 6441 653509 7097 7099 7903	Homo sapiens (human)
DOID:9042	polyp of corpus uteri Aliases: endometrial/uterine polyp polyp of Endometrium polyp of the Uterus polyp, uterus	CYP19A1 PTEN PTGS2 SDC1	1588 5728 5743 6382	Homo sapiens (human)
DOID:0070129	autosomal recessive cutis laxa type IID Aliases: ARCL2D	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:0111054	von Willebrand's disease 3 Aliases: VWD type 3 VWD3 von Willebrand disease type 3 von Willebrand disease type III	BAAT SACM1L SELP	22908 570 6403	Homo sapiens (human)
DOID:0060171	obsolete Dravet syndrome	ALDH7A1 EPM2A	501 7957	Homo sapiens (human)
DOID:783	end stage renal disease Aliases: end stage renal failure end-stage kidney disease	ACAT1 ACE ADIPOQ CAT CHGA CPT1A CYP1A1 CYP2C8 CYP3A5 ENPP1 GHRL GLO1 ICAM1 KL LCAT LEP LIPC LPIN1 LPL MBL2 OLR1 PLA2G7 PLAUR SELL SOAT2 TLR2 TLR4 TNF UCP2	1113 1374 1543 1558 1577 1636 23175 2739 3383 38 3931 3952 3990 4023 4153 4973 5167 51738 5329 6402 7097 7099 7124 7351 7941 8435 847 9365 9370	Homo sapiens (human)
DOID:986	alopecia areata Aliases: Circumscribed alopecia	ABO ACE CLEC16A ICAM1 LGALS8 SOAT1	1636 23274 28 3383 3964 6646	Homo sapiens (human)
DOID:422	congenital structural myopathy	ACHE B4GAT1 CD38 CHAT CHKB CLEC10A CYP19A1 FKRP FKTN GFPT1 GMPPB HACD1 IDS LARGE1 MTM1 MTMR14 MTMR1 MTMR2 OVGP1 POMGNT1 POMT1 SIRT4 SLC2A4	10462 10585 1103 11041 1120 1588 2218 23409 2673 29925 3423 43 4534 5016 55624 64419 6517 79147 8776 8898 9200 9215 952	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:0060367	Parkinson's disease 1 Aliases: autosomal dominant Parkinson disease 1 autosomal dominant Parkinson's disease 1	SYNJ1	8867	Homo sapiens (human)
DOID:0080073	spina bifida occulta	B3GLCT COLEC10 COLEC11 LFNG MASP1	10584 145173 3955 5648 78989	Homo sapiens (human)
DOID:2154	nephroblastoma Aliases: adult nephroblastoma	AKR1C3 ANXA5 APRT CALR CAT CD14 CD38 CD44 CDH13 CEACAM5 CRLS1 CYP19A1 CYP27B1 ENO2 EXT2 FH FUT4 GAPDH GPC3 GUSB HPGDS IGF2R MRC1 MSLN NCAM1 OGG1 PARP1 PCNA PIK3CA PIK3CB PIK3CD PIK3CG PLCE1 PLCG2 PNPLA2 PTEN PTGS2 QPRT RECK SHMT1 SLC2A1 SLC2A3 SRD5A2	1012 10232 1048 142 1588 1594 2026 2132 2271 23475 2526 2597 2719 27306 2990 308 3482 353 4360 4684 4968 5111 51196 5290 5291 5293 5294 5336 54675 57104 5728 5743 6470 6513 6515 6716 811 8434 847 8644 929 952 960	Homo sapiens (human)

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