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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 **2726 - 2750** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:0110770	hereditary spastic paraplegia 17 Aliases: SPG17 Silver spastic paraplegia syndrome Silver syndrome autosomal dominant spastic paraplegia 17 autosomal dominant spastic paraplegia type 17 dHMN5B distal hereditary motor neuropathy type 5B spastic paraplegia with amyotrophy of hands and feet spastic paraplegia-amyotrophy of hands and feet	B4GALNT1 CYP2B6 CYP2U1 CYP39A1 CYP7B1 FAR1 GBA2 L1CAM MAG PCYT2 PLA2G6 PNPLA6 SELENOI SLC33A1 ST3GAL5	10908 113612 1555 2583 3897 4099 51302 57704 5833 8398 84188 85465 8869 9197 9420	Homo sapiens (human)
DOID:0050560	Walker-Warburg syndrome Aliases: HARD syndrome cerebroocular dysplasia-muscular dystrophy syndrome	ALG1 B3GALNT2 B3GNT2 B4GAT1 CRPPA DAG1 FKRP FKTN GMPPB LARGE1 POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1	10329 10585 10678 11041 148789 1605 2218 29925 29954 55624 56052 729920 79147 84197 84892 9215	Homo sapiens (human)
DOID:2723	dermatitis Aliases: eczema skin inflammation	ABO ACADVL ACE ACHE AGXT AKR1C3 ALDH3A2 ALDH7A1 ALOX12B ALOX15 ALOX5 APRT ARSH ASGR1 CALR CAT CD109 CD14 CD44 CD48 CD55 CD74 CERS3 CERS4 CHGA CHI3L1 CHST3 CLEC10A CLEC16A CLEC7A COL9A2 CYP24A1 CYP27A1 CYP27B1 CYP2R1 DHCR7 ELOVL1 ELOVL3 ELOVL6 ENO1 FADS1 FADS2 FAR1 FAR2 FCER2 FDFT1 FUT2 FUT7 GLB1 GLUL HAS3 HPGDS HPSE HSD11B1 ICAM1 ICAM5 IL18R1 IL1R1 IL1RL1 IL1RL2 INPP5D ITLN1 LCLAT1 LGALS1 LGALS3 LGALS9 LPIN2 MBL2 MGLL MRC1 NAAA NPL OGA PARP1 PCCA PCCB PGD PGM3 PIGX PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G2E PLA2G4A PLA2G4D PLA2G7 PLAUR PLB1 PLCB3 PLD3 POFUT1 PTGDS PTGS2 SDC1 SELE SELP SIGLEC7 SLC17A5 SLC2A2 SLC35D1 SLC35G1 SLC39A8 SOAT1 SRD5A3 STS TMTC2 TNF TPI1 UGT1A9 VCAM1	10462 10724 10855 1113 1116 11343 120227 1298 135228 142 151056 1591 1593 159371 1594 160335 1604 1636 1717 189 2023 204219 2208 2222 224 23169 23274 23509 23646 240 242 246 2524 2529 253558 26503 27036 27163 2720 27306 2752 28 283748 3038 30814 3290 3383 347527 353 3554 3635 37 3956 3958 3965 3992 412 4153 43 432 4360 501 5095 5096 5226 5238 5290 5291 5293 5294 5319 5321 5329 5331 54600 54965 55600 55711 5730 5743 6382 6401 6403 64116 64581 64834 6514 6646 7087 7124 7167 7412 79071 7941 79603 79644 80896 811 83401 84188 847 8644 8808 8809 9173 929 9415 9469 960 962 9663 972	Homo sapiens (human)
DOID:12639	pyloric stenosis	ACSL4 AGPAT2 ALG13 FIG4 IL1RAPL1 MTM1 SLC2A10 SLC35A2 SMC3 TMTC3	10555 11141 160418 2182 4534 7355 79868 81031 9126 9896	Homo sapiens (human)
DOID:14400	capillary leak syndrome	CD22 ICAM1	3383 933	Homo sapiens (human)
DOID:0080141	mosaic variegated aneuploidy syndrome 1	CNTN3	5067	Homo sapiens (human)
DOID:9775	diastolic heart failure	ACE CYP27B1 LEPR	1594 1636 3953	Homo sapiens (human)
DOID:1350	paranasal sinus benign neoplasm Aliases: neoplasm of accessory sinus tumor of Accessory sinus	TP53	7157	Homo sapiens (human)
DOID:0060467	humeroradial synostosis	ALDH2 B3GAT3 B4GALT7 CHST3 COLEC10 COLEC11 EXT1 EXT2 HSPG2 MASP1 PIK3CA PRKAA2 PTDSS1 SMC3 UMOD XYLT1	10584 11285 2131 2132 217 26229 3339 5290 5563 5648 64131 7369 78989 9126 9469 9791	Homo sapiens (human)
DOID:9563	bronchiectasis Aliases: Polynesian bronchiectasis	CALR CEL FCN2 G6PC3 ICAM1 ISYNA1 LGALS9 MBL2 MICA NTM PARP9 PGM3 PIK3CD RGMA SFTPA1 SFTPA2 SFTPC SFTPD SLC27A5 TNF	100507436 1056 10998 2220 3383 3965 4153 50863 51477 5238 5293 56963 6440 6441 653509 7124 729238 811 83666 92579	Homo sapiens (human)
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:0110281	autosomal recessive limb-girdle muscular dystrophy type 2G Aliases: LGMD2G limb-girdle muscular dystrophy due to telethonin deficiency muscular dystrophy, limb-girdle, type 2G	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:2841	asthma Aliases: bronchial hyperreactivity chronic obstructive asthma chronic obstructive asthma with acute exacerbation chronic obstructive 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 CD209 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 GSTO2 HACD1 HAS2 HEXB HPGDS HPSE2 HSD11B2 ICAM1 IDS IL18R1 IL18RAP IL1R1 IL1RAPL1 IL1RL1 INPP4A ISYNA1 ITLN1 ITPKA KLRB1 KLRD1 LCT LEP 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 TLR10 TLR1 TLR2 TLR4 TLR6 TM7SF2 TMTC2 TNF TPI1 UGT1A1 UGT1A3 UGT1A6 VCAM1 VNN1	1012 10162 10333 10462 1048 1056 10584 10682 10998 1103 11141 1116 1118 11332 1178 119391 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 30835 3291 3383 340990 3423 353 3554 3631 3706 3820 3824 3938 3952 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 7096 7097 7099 7108 7124 7167 729238 7412 7941 79888 80339 81031 81793 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:3347	osteosarcoma Aliases: Osteogenic sarcoma Skeletal sarcoma bone tissue neoplasm osteoid sarcoma	ACLY ACYP2 AGPAT2 AKR1A1 AKR1C1 ALDH1B1 ALDOA ALOX5 ALPI ALPL ALPP ANXA5 APRT ATRNL1 BPHL CALR CANX CAT CBR3 CD109 CD14 CD248 CD38 CD44 CD74 CEACAM6 CHI3L1 CHPT1 CHST2 CLEC5A CNTN2 COL9A2 COLGALT1 COLGALT2 CSPG4 CYP19A1 CYP27B1 CYP2B6 CYP3A4 DCN DDOST DGKZ DHDDS DPEP1 EFNA1 EXT1 EXT2 FADS1 FASN FBP1 FCN2 FDPS FOLR1 FOLR2 FUT3 GAPDH GAS1 GFRA1 GLDC GLUL GPI GPNMB HACD1 HAS2 HAS3 HK2 HPGDS HPSE HSD11B1 HSD11B2 ICAM1 IDH1 IDH2 IGF2R IL18R1 IL1R1 INPP4B KLRK1 L1CAM LDHA LGALS1 LGALS3 LPL LSS LYPD5 MCAT MELTF MGLL MICA MMUT MTAP NANS NEU1 OLR1 PAFAH1B1 PARG PARP1 PCK2 PCYT1A PFKFB2 PFKFB3 PGAM1 PGAP2 PIGF PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKM PLA2G4A PLAAT3 PLAUR PLCG1 PLCG2 PLD1 PNPLA2 PRKAA2 PRNP PSMD10 PTEN PTGES3 PTGS2 RECK RENBP SDC1 SDC2 SDC4 SDHA SDHC SGMS2 SIRT6 SLC2A4 SMC3 SMPD2 SMUG1 SOAT1 SPHK1 SPHK2 STS SULT1E1 TNKS2 TNKS TP53 TUSC3 ULBP1 ULBP2 VCAM1 VCAN VNN2 VTCN1	100507436 10327 10457 10555 10728 10855 11145 1116 11343 1298 135228 142 1462 1464 1555 1576 1588 1594 1634 1645 1650 166929 1800 1942 2131 2132 219 2194 2203 2220 2224 226 22914 23127 2348 2350 23583 23601 240 248 249 250 2525 2597 26033 2619 2674 27306 2731 27315 27349 2752 2821 284348 3037 3038 308 3099 3290 3291 3383 3417 3418 3482 353 3554 3897 3939 3956 3958 3992 4023 4047 412 4241 4507 4594 4680 47 4758 4973 5048 5106 5130 51548 5208 5209 5223 5281 5290 5291 5293 5294 5310 5315 5321 5329 5335 5336 5337 54187 5563 5621 56848 56994 57104 57124 5716 5728 5743 5973 6382 6383 6385 6389 6391 6517 6610 6646 670 6783 6900 7157 7412 79679 79709 7991 79947 80328 80329 80351 811 821 8434 847 8505 8525 8658 874 8809 8821 8875 8877 9126 9200 929 9435 952 960 972 98	Homo sapiens (human)
DOID:5567	ovarian germ cell teratoma Aliases: germ cell teratoma of Ovary	PTEN	5728	Homo sapiens (human)
DOID:3969	thyroid gland papillary carcinoma Aliases: Papillary carcinoma of the Thyroid gland	ACE ACHE AGK AGRN AKR1C2 ALDH1A3 ALOX12B ALOX5 AMACR ANXA4 ANXA5 APRT B4GALNT3 BRAF CAT CD38 CD44 CD74 CEMIP CERS1 CERS2 CHI3L1 CPT1C CYP19A1 CYP1A1 CYP24A1 CYP27B1 CYP2R1 DCN DHCR24 EBP ELOVL2 ENPP2 FASN FCER2 FCGR3B FH FUCA1 FUT4 G6PD GAPDH GAS1 GGT1 GLA GPC3 GPI GPNMB GPX3 GUSB HK2 HPGDS HPRT1 HPSE ICAM1 IDH1 IL1R1 INPP4B INPPL1 KLB L1CAM LDHA LDHB LGALS1 LGALS3 LMAN2L MCAT MINPP1 MMUT MRC1 NCAM1 NT5E OGG1 PARG PARP1 PC PCYT1A PDHB PGK1 PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G1B PLA2G2A PLA2G6 PLD2 PRKAA2 PTEN PTGDS PTGES3 PTGES PTGIS PTGS2 RECK RPIA SCD SDC4 SDHB SELE SELL SHMT1 SIRT6 SLC2A3 SMUG1 SPHK1 SPHK2 TKTL1 TM7SF2 TP53 TPI1 TYMP UGCG	10457 10682 10715 10728 10855 1116 120227 126129 142 152831 1543 1588 1591 1594 1634 1636 1646 1718 1890 2194 220 2208 2215 2271 22934 23583 23600 240 242 2517 2526 2539 2597 2619 2678 2717 2719 27306 27349 2821 283358 2878 2990 29956 307 308 3099 3251 3383 3417 353 3554 3636 375790 3897 3939 3945 3956 3958 43 4360 4594 4684 4907 4968 5091 5130 51548 5162 5168 5230 5236 5290 5291 5293 5294 5315 5319 5320 5338 54898 5563 55750 56848 57214 5728 5730 5740 5743 6319 6385 6390 6401 6402 6470 6515 673 7108 7157 7167 7357 81562 8277 8398 8434 847 8505 8821 8877 952 9536 9562 960 972	Homo sapiens (human)
DOID:6225	Cronkhite-Canada syndrome Aliases: gastric Cronkhite Canada polyposis polyposis, skin pigmentation, alopecia, and fingernail changes	PTEN	5728	Homo sapiens (human)
DOID:0060767	autosomal dominant Robinow syndrome 3 Aliases: DRS3	ACADS AMT ARSA ARSD B4GALT7 BAAT CAT CHPT1 CYP11A1 DAG1 DCN DHDDS FOLR1 GALNT14 GAPDH GCSH GLB1 GLDC GPI HSPG2 KL OGG1 PARP1 PGAM2 PIK3CA PIK3CB PIK3CD PIK3CG PRNP PTEN SGPL1 SMC3 STS TNKS XYLT2	11285 142 1583 1605 1634 2348 2597 2653 2720 2731 275 2821 3339 35 410 412 414 4968 5224 5290 5291 5293 5294 5621 56994 570 5728 64132 79623 79947 847 8658 8879 9126 9365	Homo sapiens (human)
DOID:115	cardiac tamponade Aliases: Rose's tamponade pericardial tamponade	PCYT1A SMUG1 SOAT1	23583 5130 6646	Homo sapiens (human)
DOID:10047	nodular malignant melanoma Aliases: nodular melanoma	MTAP	4507	Homo sapiens (human)
DOID:0060730	torsion dystonia 1 Aliases: dystonia musculorum deformans	ALDH5A1	7915	Homo sapiens (human)
DOID:9281	phenylketonuria Aliases: Folling's disease PKU maternal phenylketonuria phenylalaninemia	ACADM CAT G6PD GPX3 OGDH OXCT1 PGM1	2539 2878 34 4967 5019 5236 847	Homo sapiens (human)
DOID:10426	Klippel-Feil syndrome Aliases: Klippel-Feil and Turner syndrome Klippel-Feil deformity, deafness and facial asymmetry autosomal dominant Klippel-Feil syndrome congenital dystrophia brevicollis congenital synostosis of cervical vertebrae	ACSS2 AGA B3GLCT CD38 COLEC10 COLEC11 EBP IDUA INPP5E LFNG MAN2B1 MASP1 PLA2G15	10584 10682 145173 175 23659 3425 3955 4125 55902 5648 56623 78989 952	Homo sapiens (human)
DOID:0050579	glycogen storage disease XV Aliases: Glycogen storage disease 15 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency glycogen storage disease type XV	GYG1	2992	Homo sapiens (human)
DOID:0050795	cone dystrophy Aliases: retinal cone dystrophy	CACNA2D4	93589	Homo sapiens (human)

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