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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 **1326 - 1350** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:3978	extrinsic cardiomyopathy	PFKFB3	5209	Homo sapiens (human)
DOID:0060496	respiratory allergy Aliases: airway allergy	MBL2 TLR4	4153 7099	Homo sapiens (human)
DOID:0112136	severe congenital neutropenia 4 Aliases: Dursun syndrome SCN4 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome	G6PC3	92579	Homo sapiens (human)
DOID:0110491	autosomal recessive nonsyndromic deafness 32 Aliases: DFNB32 HIIMS autosomal recessive deafness 105 autosomal recessive deafness 32 hearing impairment infertile male syndrome	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PSAP TECTA	135228 146183 220074 22856 25839 340990 410 50 51 5660 7007	Homo sapiens (human)
DOID:0060550	ablepharon macrostomia syndrome	ACE	1636	Homo sapiens (human)
DOID:14270	ascending cholangitis	CLEC16A FUT2 GAL3ST2 ICAM1 IL18R1 IL1R1 INPP5A MANBA MGLL PLA2G10 PLA2G2A PLA2G2D SMUG1 STS	11343 23274 23583 2524 26279 3383 3554 3632 412 4126 5320 64090 8399 8809	Homo sapiens (human)
DOID:0050795	cone dystrophy Aliases: retinal cone dystrophy	CACNA2D4	93589	Homo sapiens (human)
DOID:0080222	pseudohypoparathyroidism type IB	ASAH1	427	Homo sapiens (human)
DOID:13088	periventricular leukomalacia	ACE ECHS1 EOGT PC PLA2G6 PMM2 SFTPD TNF TPI1	1636 1892 285203 5091 5373 6441 7124 7167 8398	Homo sapiens (human)
DOID:3183	childhood oligodendroglioma Aliases: pediatric Oligodendroglioma	ACLY CD44 CHI3L1 CNTN2 CSPG4 DHDDS ENO2 FASN GLUL HPSE HSPG2 IDH1 IDH2 LGALS1 LGALS3 MMUT PIK3CA PIK3CB PIK3CD PIK3CG PLA2G4A PLA2G4C PLCB1 PTEN PTGS2 SDHB SULT1E1 UGT8	10855 1116 1464 2026 2194 23236 2752 3339 3417 3418 3956 3958 4594 47 5290 5291 5293 5294 5321 5728 5743 6390 6783 6900 7368 79947 8605 960	Homo sapiens (human)
DOID:9415	allergic asthma Aliases: extrinsic asthma with acute exacerbation extrinsic asthma with status asthmaticus	ABO ACAA1 ACE ACHE ACOT7 ACSL3 ADH1B ADH5 AGXT AKR1B1 ALDH2 ALDH3A1 ALDH3A2 ALDH7A1 ALOX15 ALOX15B ALOX5 ALPL ANXA4 ANXA5 APRT ARSA ATRN ATRNL1 B3GAT1 BST1 CAT CD14 CD1D CD33 CD38 CD44 CD48 CD93 CDH13 CEACAM5 CEACAM6 CEL CHAT CHI3L1 CHIA CHIT1 CHST8 CLC CLEC10A CLEC16A CLEC4E CLEC7A COG6 COL9A2 COLEC10 COMT CRYBG1 CTSA CYP11A1 CYP1A1 CYP1A2 CYP1B1 CYP24A1 CYP27A1 CYP27B1 CYP2B6 CYP2C19 CYP2C8 CYP2E1 CYP2J2 CYP2R1 CYP3A4 CYP3A5 CYP3A7 CYP4F3 DAD1 DAG1 DCN DGKB DGKE DGKG DGKH EBP EFNA1 ENO1 ENO2 ENPP1 FADS1 FADS2 FCER2 FCGR3B FUT2 G6PD GALNT17 GAPDH GAS1 GBA3 GFRA4 GGT1 GLA GLB1 GLDC GLT1D1 GNPDA2 GPX1 GPX3 HACD1 HAS2 HEXB HPGDS HPSE2 HSD11B2 ICAM1 IDS IL18R1 IL18RAP IL1R1 IL1RAPL1 IL1RL1 INPP4A ISYNA1 ITLN1 ITPKA KLRB1 KLRD1 LCT LGALS1 LGALS3 LGALS9 LIPA LIPG LPCAT1 LPCAT3 LPIN2 LTA4H LTC4S LYNX1 MANBA MBL2 MRC1 NT5E OGG1 ORMDL1 ORMDL2 OTOG PAFAH1B1 PARP14 PARP1 PARP9 PC PDIA3 PGAP3 PGD PGM3 PGP PIGX PIK3CA PIK3CB PIK3CD PIK3CG PIP5K1B PLA2G10 PLA2G1B PLA2G2A PLA2G4A PLA2G4C PLA2G6 PLA2G7 PLA2R1 PLAUR PLB1 PLCG1 PLD1 PNPLA3 PRG2 PRNP PSAP PTEN PTGDS PTGES PTGS1 PTGS2 RGMB SCD SDC4 SDHD SELE SELL SELP SFTPA1 SFTPA2 SFTPC SFTPD SIGLEC1 SIGLEC8 SIGLEC9 SIRT2 SIRT6 SLC17A5 SLC27A5 SLC2A10 SLC33A1 SMC3 SMPD1 SOAT1 ST6GAL1 STS TALDO1 TBXAS1 TM7SF2 TMTC2 TPI1 UGT1A1 UGT1A3 UGT1A6 VCAM1 VNN1	1012 10162 10462 1048 1056 10584 10682 10998 1103 11141 1116 1118 11332 1178 120227 125 128 1298 1312 132789 142 144423 151056 1543 1544 1545 1551 1555 1557 1558 1571 1573 1576 1577 1583 1591 1593 1594 1603 160335 1605 1607 1608 160851 1634 1636 189 1942 202 2023 2026 217 218 2181 2208 2215 224 22918 22925 22933 231 23274 240 246 247 249 2524 2539 2597 26033 2619 26253 26503 2678 27087 27159 2717 27180 27181 2720 27306 2731 28 283871 285704 2876 2878 29095 2923 30 3037 307 3074 308 3291 3383 340990 3423 353 3554 3631 3706 3820 3824 3938 3956 3958 3965 3988 3992 4048 4051 4056 410 412 4126 4153 43 4360 4680 4907 4968 501 5048 5091 51477 51548 5167 5226 5238 5290 5291 5293 5294 5319 5320 5321 5329 5335 5337 54578 54625 54658 54659 5476 54965 5553 55600 5621 5660 5728 5730 5742 5743 57511 57733 60495 6319 6385 6392 6401 6402 6403 64096 64377 6440 64409 6441 64581 6480 653509 66004 6609 6614 6646 683 6888 6916 7108 7167 729238 7412 7941 79888 80339 81031 83666 8395 8398 8399 8455 847 8526 8605 8807 8809 8876 912 9126 9173 9197 9200 929 93210 9388 94101 9415 945 952 9536 960 962 9663	Homo sapiens (human)
DOID:1866	giant cell reparative granuloma Aliases: central giant cell (reparative) granuloma central giant cell granuloma central giant cell reparative granuloma of jaw	GLB1	2720	Homo sapiens (human)
DOID:3817	cranial nerve palsy Aliases: Cranial nerve Paralysis	EXT1 EXT2 IDH1 IDH2 PTEN SDHB SDHC SDHD	2131 2132 3417 3418 5728 6390 6391 6392	Homo sapiens (human)
DOID:0070265	congenital disorder of glycosylation type IIm Aliases: SLC35A2-CDG congenital disorder of glycosylation type 2m developmental and epileptic encephalopathy 22 epileptic encephalopathy, early infantile, 22	SLC35A2	7355	Homo sapiens (human)
DOID:0050445	X-linked dominant hypophosphatemic rickets Aliases: Hypophosphatemia, Vitamin D-Resistant Rickets Vitamin D-Resistant Rickets, X-Linked X-linked hypophosphatemia hypophosphatemic rickets X-linked dominant	CYP24A1 CYP27B1 ENPP1 KL L1CAM SFTPA1 SLC2A2	1591 1594 3897 5167 6514 653509 9365	Homo sapiens (human)
DOID:12123	postinflammatory pulmonary fibrosis Aliases: Post-inflammatory pulmonary fibrosis	ACE ACO2 ANXA5 APRT ASAH1 ATP6AP2 B3GAT1 B3GAT3 CAT CD44 CEL CHAT CHI3L1 CHIT1 CHST15 CYP27B1 DCN ELOVL6 FASN FCGR3B FOLR2 FUT8 GLB1 HAS2 HPGDS ICAM1 IL1RL1 INPP5D KL LCLAT1 LDHA LGALS1 LGALS3 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 VCAM1	10159 1056 10825 10998 1103 1116 1118 1594 1634 1636 2194 2215 23213 2350 23556 23583 2530 253558 26229 27087 2720 27306 3037 308 3383 353 3635 3939 3956 3958 427 4350 4360 4758 4907 4968 50 51363 51548 5290 5291 5293 5294 5321 5329 5563 55959 56848 5728 5743 6382 6383 6385 6401 6440 6441 653509 6646 7108 729238 7412 79071 83666 847 8482 8879 9173 9365 960	Homo sapiens (human)
DOID:0070226	progressive familial intrahepatic cholestasis 1 Aliases: FIC1 deficiency PFIC1	ABO GGT1 HSD3B7 NAGLU OGA	10724 2678 28 4669 80270	Homo sapiens (human)
DOID:0110030	alpha thalassemia-X-linked intellectual disability syndrome Aliases: ATR, nondeletion type ATR-X syndrome alpha-thalassemia/mental retardation syndrome nondeletion type	COL9A2 G6PD IDH1 IDH2 PGD PKD1 UGT1A10 UGT1A1 UGT1A4 UGT1A6 UGT1A7 UGT1A8 VCAM1	1298 2539 3417 3418 5226 5310 54575 54576 54577 54578 54657 54658 7412	Homo sapiens (human)
DOID:0090034	myoclonic dystonia 11	ALDH5A1	7915	Homo sapiens (human)
DOID:8252	chronic rhinitis Aliases: Rhinitis - chronic	NT5E	4907	Homo sapiens (human)
DOID:11507	rumination disorder Aliases: Psychogenic rumination	COMT FUT3 IDS	1312 2525 3423	Homo sapiens (human)
DOID:3192	neurilemmoma Aliases: Psammomatous schwannoma schwannoma	ARSA B3GAT1 CAT CD38 CD44 CEACAM5 CHSY1 CYP2E1 DCN G6PD HMMR IL1R1 LGALS1 NCAM1 PARP1 PARP2 PIK3CA PIK3CB PIK3CD PIK3CG PRNP PTEN PTGS2 RECK SIGLEC7 SMUG1 SOAT1 STS TMEM165 VCAN	10038 1048 142 1462 1571 1634 22856 23583 2539 27036 27087 3161 3554 3956 410 412 4684 5290 5291 5293 5294 55858 5621 5728 5743 6646 8434 847 952 960	Homo sapiens (human)
DOID:9965	toxoplasmosis Aliases: disseminated toxoplasmosis	ACO1 ALOX12 CD44 DGAT1 FDPS FUT2 FUT3 GPAT3 HSPG2 ICAM1 IL18R1 MICA TPI1	100507436 2224 239 2524 2525 3339 3383 48 7167 84803 8694 8809 960	Homo sapiens (human)
DOID:0070382	developmental and epileptic encephalopathy 95 Aliases: DEE95 early infantile epileptic encephalopathy 95	PIGS	94005	Homo sapiens (human)
DOID:4448	macular degeneration Aliases: Macular degeneration of retina	ACAT1 ACE ACO1 AKR1A1 ALDH3A2 ALDH5A1 ATP6AP2 B3GLCT BAD CALR CAT CD55 CHI3L1 CHST6 CYP1A2 CYP21A2 CYP24A1 CYP27A1 CYP2C19 CYP2R1 CYP46A1 ELOVL4 FADS1 FADS2 FCGR3B FCN2 FMOD FUT6 G6PD GALNS GPX3 HPGDS HS3ST4 HSD11B1 HSPG2 ICAM1 LGALS1 LIPC LPL MAN2B1 MASP1 MBL2 MUTYH NCAM1 OGG1 PARP12 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G12A PLCG2 PNPLA2 PPARGC1A PPT1 PTEN RENBP RPE SCD5 SELE SELL SELP SMUG1 SUCLA2 TLR4 UGT2B17 UNG XYLT1 XYLT2	10159 10327 10858 10891 1116 120227 142 145173 1544 1557 1589 1591 1593 1604 1636 2215 2220 224 2331 23583 2528 2539 2588 27306 2878 3290 3339 3383 38 3956 3990 3992 4023 4125 4153 4166 4595 4684 48 4968 5290 5291 5293 5294 5336 5538 5648 57104 572 5728 5973 6120 6401 6402 6403 64131 64132 64761 6785 7099 7367 7374 7915 79966 811 81579 847 8803 9415 9951	Homo sapiens (human)

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