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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 **6851 - 6875** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:12919	Plasmodium ovale malaria Aliases: Malariaby Plasmodium ovale Ovale malaria	G6PD	2539	Homo sapiens (human)
DOID:0060422	chromosome 6pter-p24 deletion syndrome Aliases: 6p subtelomeric deletion syndrome 6p25 microdeletion syndrome distal monosomy 6p	CYP11A1 FREM1 PAFAH1B1 PRNP	1583 158326 5048 5621	Homo sapiens (human)
DOID:2001	neuroma	PIK3CA	5290	Homo sapiens (human)
DOID:0060841	isolated microphthalmia 8 Aliases: MCOP8	ALDH1A3	220	Homo sapiens (human)
DOID:1679	cystitis	CAT IMPA1 MBL2 NAGLU OGA PIK3CA PIK3CB PIK3CD PIK3CG PRKAA2 PTGS2 TNF	10724 3612 4153 4669 5290 5291 5293 5294 5563 5743 7124 847	Homo sapiens (human)
DOID:649	prion disease Aliases: Prion disease pathway Prion protein disease Spongiform Encephalopathy prion induced disorder transmissible spongiform encephalopathy	ACHE BST1 CD14 CD44 CHI3L1 GPI LGALS1 OGG1 PDIA3 PIK3CA PIK3CB PIK3CD PIK3CG PRKAA2 PRNP PTGS2 SMUG1	1116 23583 2821 2923 3956 43 4968 5290 5291 5293 5294 5563 5621 5743 683 929 960	Homo sapiens (human)
DOID:13620	patent foramen ovale Aliases: Atrial septal defect within oval fossa Defect, Patent or persistent, ostium secundum Ostium secundum type atrial septal defect Persistent ostium secundum foramen ovale patent	ACADVL ALG12 ARSA ARSD ATP6V1A B3GALT6 B3GAT3 B3GLCT CAT CFC1 CHST14 CHST3 COMT CYP11A1 CYP11B2 CYP1B1 CYP2E1 DSE FIG4 FKTN G6PC3 GAA GPC3 GPC6 MASP1 MMUT PCYT1A PIGA PIGN PIGQ PLD1 PTEN RENBP SMC3 TALDO1 TGDS TKT XYLT2	10082 113189 126792 1312 145173 1545 1571 1583 1585 2218 23483 23556 2548 26229 2719 29940 37 410 414 4594 5130 523 5277 5337 55997 5648 5728 5973 64132 6888 7086 79087 847 9091 9126 92579 9469 9896	Homo sapiens (human)
DOID:4998	trichorhinophalangeal syndrome type II Aliases: Langer-Giedion syndrome Trichorhinophalangeal dysplasia type II trichorhinophalangeal syndrome type 2	EXT1	2131	Homo sapiens (human)
DOID:4702	mongolian spot Aliases: Mongolian Macula	ACE AKR1B1 ALDH3A2 ALDH7A1 ALOX12B ALPL AMY2B APRT CANX CERS3 DGAT1 EBP ELOVL4 ENPP1 GBA1 GLA GNPTAB HPGDS HSD17B6 ICAM1 LPIN2 MPDU1 NCAM1 NT5E PKD1 PLA2G1B PNPLA2 PNPLA6 POGLUT1 PTEN PTGS2 SELE SELL SELP SGPL1 SMUG1 STS SULT2B1 XYLT1 XYLT2	10682 10908 1636 204219 224 231 23583 242 249 2629 2717 27306 280 3383 353 412 4684 4907 501 5167 5310 5319 56983 57104 5728 5743 6401 6402 6403 64131 64132 6785 6820 79158 821 8630 8694 8879 9526 9663	Homo sapiens (human)
DOID:13269	hereditary coproporphyria Aliases: Coproporphyrinogen oxidase deficiency hereditary coproporphyria porphyria	ACSM3 CPO	130749 6296	Homo sapiens (human)
DOID:0060697	hyperekplexia 2 Aliases: HKPX2	PRNP	5621	Homo sapiens (human)
DOID:0080599	Coronavirus infectious disease	ACE CD209 MBL2 SFTPD	1636 30835 4153 6441	Homo sapiens (human)
DOID:11507	rumination disorder Aliases: Psychogenic rumination	COMT FUT3 IDS	1312 2525 3423	Homo sapiens (human)
DOID:526	human immunodeficiency virus infectious disease Aliases: HIV infection	ABO ACE ACOT8 ACSS2 ARSH B3GAT1 BST2 CACNA2D4 CD14 CD209 CD38 CDH13 CHI3L1 CLEC10A CLEC9A COLEC11 COMT CTSA CYP1A1 CYP27B1 CYP2B6 CYP3A4 CYP4F3 DEGS2 DGKI EFNA5 ENO1 FADS2 FCER2 FCGR3B FCN2 FREM1 FUCA1 FUT1 FUT2 G6PD GAD1 GALT GLB1 GLUL GPAT3 GPI GPX1 GPX3 HADHA HEXA HEXB HPGDS ICAM1 ICAM2 IDH1 IGF2R KLRB1 KLRC1 KLRD1 LEPR LGALS1 LGALS9 LIPA LSS LTA4H LYZ MACROD2 MAN1A1 MBL2 MICA MLYCD MRC1 NEIL1 OGG1 PARP1 PIK3CA PLA2G15 PLA2G2A PLA2G7 PLAUR PLCD3 PNPLA3 PRKAA2 PRNP PRSS21 PSAP PTEN PTGS1 PTGS2 RENBP SCD5 SDC1 SELE SELL SELP SFTPD SMUG1 SOAT1 STS TMED1 TNF UGT1A1 UNG VCAM1	10005 100507436 1012 10462 10942 11018 1116 113026 123099 1312 140733 142 1543 1555 1576 158326 1594 1636 1946 2023 2208 2215 2220 23417 23583 23659 2517 2523 2524 2539 2571 2592 27087 2720 27306 2752 28 2821 283420 2876 2878 3030 3073 3074 30835 3383 3384 3417 347527 3482 3820 3821 3824 3953 3956 3965 3988 4047 4048 4051 4069 412 4121 4153 4360 4968 5290 5320 5329 54658 5476 5563 55902 5621 5660 5728 5742 5743 5973 6382 6401 6402 6403 6441 6646 684 7124 7374 7412 78989 7941 79661 79966 80339 84803 9162 929 93589 9415 952	Homo sapiens (human)
DOID:1558	angioedema Aliases: Angioneurotic oedema Quincke's edema angioneurotic edema giant urticaria	ABO ACE AGXT ALDH3A2 ALOX5 ARSA BST2 CAT CD38 DGKG ELOVL4 FCGR3B GPX1 HPGDS ICAM1 LTC4S MASP2 MBL2 PIGT PIK3CA PIK3CB PIK3CD PIK3CG PLA2G4A PLCG1 PLCG2 PTGS2 SDHB SDHC SELE SMUG1 VCAM1 XPNPEP2	10747 1608 1636 189 2215 224 23583 240 27306 28 2876 3383 4056 410 4153 51604 5290 5291 5293 5294 5321 5335 5336 5743 6390 6391 6401 6785 684 7412 7512 847 952	Homo sapiens (human)
DOID:0111132	focal segmental glomerulosclerosis 7 Aliases: FSGS7	ACE	1636	Homo sapiens (human)
DOID:446	primary hyperaldosteronism Aliases: Cushing syndrome Cushing's syndrome hyperaldosteronism	ACAT1 ACE AKR1B1 APRT ATP6AP2 CD44 CHST3 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP21A2 CYP3A4 CYP4F3 FASN FH G6PD HSD11B1 HSD11B2 HSD3B1 HSD3B2 LGALS3 OCRL PRSS8 PTGS2 SLC26A2 SLC33A1 SLC5A1 SMUG1	10159 1576 1583 1584 1585 1586 1588 1589 1636 1836 2194 2271 231 23583 2539 3283 3284 3290 3291 353 38 3958 4051 4952 5652 5743 6523 9197 9469 960	Homo sapiens (human)
DOID:0050749	peripheral T-cell lymphoma	CD1D CD44 CLEC10A CYP3A4 IDH1 IDH2 LGALS1 MTAP NCAM1 PIK3CA PIK3CB PIK3CD PIK3CG PNP SMUG1 SOAT1 TM7SF2	10462 1576 23583 3417 3418 3956 4507 4684 4860 5290 5291 5293 5294 6646 7108 912 960	Homo sapiens (human)
DOID:9540	vascular skin disease	AGA FUCA1 NEU1 PLAUR PTEN TM7SF2	175 2517 4758 5329 5728 7108	Homo sapiens (human)
DOID:0050855	renal fibrosis	ACE CYP2J2 LEPR PPARGC1A TLR2 TLR4	10891 1573 1636 3953 7097 7099	Homo sapiens (human)
DOID:0060023	immunodeficiency with hyper IgM type 3 Aliases: CD40 deficiency HIGM3 hyper-IgM syndrome due to CD40 deficiency type 3 hyper-IgM immunodeficiency	CHI3L1 FCER2 MRC1 UNG	1116 2208 4360 7374	Homo sapiens (human)
DOID:3770	pulmonary fibrosis Aliases: Fibrosis of lung	ACE ACO2 ALOX5 ANXA5 APRT ASAH1 ATP6AP2 B3GAT1 B3GAT3 BAD CAT CD44 CEL CHAT CHI3L1 CHIT1 CHST15 CYP27B1 DCN ELOVL6 FASN FCGR3B FOLR2 FUT8 GLB1 HAS2 HPGDS ICAM1 IL18R1 IL1RL1 INPP5D KL LCLAT1 LDHA LGALS1 LGALS3 MBL2 MPG MRC1 NEU1 NEU3 NT5E OGG1 PARP9 PIGN PIK3CA PIK3CB PIK3CD PIK3CG PLA2G4A PLAUR PRKAA2 PTEN PTGS2 SDC1 SDC2 SDC4 SELE SEMA7A SFTPA1 SFTPA2 SFTPC SFTPD SGPL1 SIRT6 SLC27A5 SMUG1 SOAT1 SPHK2 SULF1 SULF2 TM7SF2 TNF VCAM1 VCAN	10159 1056 10825 10998 1103 1116 1118 1462 1594 1634 1636 2194 2215 23213 2350 23556 23583 240 2530 253558 26229 27087 2720 27306 3037 308 3383 353 3635 3939 3956 3958 4153 427 4350 4360 4758 4907 4968 50 51363 51548 5290 5291 5293 5294 5321 5329 5563 55959 56848 572 5728 5743 6382 6383 6385 6401 6440 6441 653509 6646 7108 7124 729238 7412 79071 83666 847 8482 8809 8879 9173 9365 960	Homo sapiens (human)
DOID:628	combined T cell and B cell immunodeficiency Aliases: Congenital Combined Immunodeficiency	FUT1 IL18R1 PGK1 PGM3 PIK3CD PNP	2523 4860 5230 5238 5293 8809	Homo sapiens (human)
DOID:11037	dissociative amnesia Aliases: psychogenic amnesia	ABAT ACHE ALDH2 CD38 ELOVL6 FUT10 GAD1 GAD2 HSD11B1 NEU3 PARP1 PRKAA2 SUCLA2	10825 142 18 217 2571 2572 3290 43 5563 79071 84750 8803 952	Homo sapiens (human)
DOID:9087	anal carcinoma in situ Aliases: anal carcinoma stage 0 anal intraepithelial neoplasia grade III carcinoma in situ of anal canal carcinoma in situ of anus	CD44 CEACAM5 CYP2B6 MBL2 MPG MUTYH OGG1 PIK3CA SMUG1 ST8SIA4 SULF1	1048 1555 23213 23583 4153 4350 4595 4968 5290 7903 960	Homo sapiens (human)

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