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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 **4076 - 4100** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:0110545	autosomal dominant nonsyndromic deafness 13 Aliases: DFNA13 autosomal dominant deafness 13	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:13543	hyperparathyroidism	ACE G6PD KL OCRL PLCB3 PTGS2 SDHB SMUG1	1636 23583 2539 4952 5331 5743 6390 9365	Homo sapiens (human)
DOID:11914	gastroparesis Aliases: Gastroparalysis Gastroparesis syndrome gastric atonia	B3GAT1 CHAT MRC1 STS	1103 27087 412 4360	Homo sapiens (human)
DOID:169	neuroendocrine tumor Aliases: neuroendocrine neoplasm	ABO ACOT7 ACSS2 ALG9 APRT B3GAT1 CALR CD33 CD44 CEACAM5 CEACAM7 CHGA DAD1 ENO2 GFRA1 HPSE ISYNA1 MTAP MUTYH NAMPT NCAM1 NT5E NTNG1 PARP1 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PLCB3 PTEN SDC1 SDHB SDHC SDHD SMUG1 SQLE TM7SF2 VCAN	10135 1048 10855 1087 1113 11332 142 1462 1603 2026 22854 23583 23659 2674 27087 28 353 4507 4595 4684 4907 5130 51477 5290 5291 5293 5294 5331 55902 5728 6382 6390 6391 6392 6713 7108 79796 811 945 960	Homo sapiens (human)
DOID:0111630	familial erythrocytosis 8 Aliases: BPGM deficiency DPGM deficiency ECYT8 bisphosphoglycerate mutase deficiency bisphosphoglyceromutase deficiency diphosphoglycerate mutase deficiency of erythrocyte hemolytic anemia due to diphosphoglycerate mutase deficiency	BPGM	669	Homo sapiens (human)
DOID:5214	demyelinating polyneuropathy Aliases: peripheral demyelinating neuropathy	ACO2 ARSA FIG4 IDH1 IDH2 MAG MTMR2 PRNP PTGS2	3417 3418 4099 410 50 5621 5743 8898 9896	Homo sapiens (human)
DOID:4976	elephantiasis	ALG8 GLA GUSB INPPL1 MPI NAGA PIK3CA PMM2 PTEN SLC35D1	23169 2717 2990 3636 4351 4668 5290 5373 5728 79053	Homo sapiens (human)
DOID:0080326	familial hypertrophic cardiomyopathy	ABO ACACA ACADL ACADVL ACE AGK AGPAT2 ALG1 APRT ARSD ATP6V1A CALR3 CALR CNTN3 COG7 CPT1A CYP11B2 DLD ECHS1 FASN FKTN GAA GAPDH GLA GLB1 GNPTAB HADH HADHA ICAM1 IDH2 LGALS3 MGAM MLYCD NAGA PDHA1 PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLA2G7 PMM2 SCD5 SCD SDHA SDHB SDHD SI SLC2A10 SLC33A1 SLC5A1 SMUG1 SUCLG1 SULT1E1 TPI1	10555 125972 1374 1585 1636 1738 1892 2194 2218 23417 23583 2548 2597 2717 2720 28 3030 3033 31 33 3383 3418 353 37 3958 414 4668 5067 5160 523 5289 5290 5291 5293 5294 5310 5373 55750 56052 6319 6389 6390 6392 6476 6523 6783 7167 79158 7941 79966 81031 811 8802 8972 91949 9197	Homo sapiens (human)
DOID:0060189	ileitis Aliases: Crohn's ileitis	ACAT1 ACE ACSBG1 ALOX12 ALOX15 ALOX5 ALPL ANXA5 ARSA ASAH1 B4GALT7 CALR CAT CD14 CD177 CD1D CD44 CD55 CEACAM5 CEACAM6 CERK CERS2 CERS6 CH25H CHGA CHI3L1 CHST15 CHST4 CLEC7A CNTN3 CPT1B CRLS1 CSPG4 CTSA CYP27B1 CYP7B1 EFNA5 ENPP2 FDPS FUT2 FUT3 G6PC3 GALM GPIHBP1 GPX1 GPX2 GUSB HACD1 HPGDS HPRT1 HYAL2 ICAM1 IDH2 IL18R1 IL1R1 IL1RAP IL1RL2 INPP5D ISYNA1 KL LAYN LCT LGALS1 LGALS2 LGALS3 LPIN1 LYZ MBL2 MRC1 NAMPT NT5E OGA PARP1 PC PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G10 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLB1 PLCG1 PLD1 PLD2 PRKAA2 PRSS8 PSAP PSMD10 PTEN PTGDS PTGES PTGS1 PTGS2 REG3G RGN SDC1 SDC2 SDC4 SELL SELP SFTPD SGMS2 SGPL1 SGPP1 SGPP2 SI SIGLEC1 SIGLEC8 SIRT6 SLC33A1 SMPD1 SMUG1 SPHK1 ST8SIA2 STS TLR2 TLR4 TM7SF2 VCAM1 VNN1 VTCN1	10135 10164 1048 10724 1113 1116 11285 130120 130367 130589 1375 142 143903 1464 151056 1594 1604 1636 166929 1946 2224 23175 23205 23583 239 240 246 249 2524 2525 253782 27181 27306 2876 2877 2990 29956 308 3251 3383 338328 3418 3554 3556 3635 38 3938 3956 3957 3958 4069 410 412 4153 427 4360 4680 4907 5067 5091 51363 51477 51548 5168 5290 5291 5293 5294 5315 5319 5320 5321 5335 5337 5338 54675 5476 5563 5652 5660 57126 5716 5728 5730 5742 5743 6382 6383 6385 6402 6403 6441 64581 6476 64781 6609 6614 7097 7099 7108 7412 79679 811 8128 81537 8398 8399 847 8692 8808 8809 8876 8877 8879 9023 9104 912 9197 9200 92579 929 9365 9420 9536 960	Homo sapiens (human)
DOID:11656	cicatricial pemphigoid Aliases: Cicatricial pemphigoid with ocular involvement Ocular pemphigoid benign mucous membrane pemphigoid benign mucous membrane pemphigoid with ocular involvement ocular pemphigus	AKR1C3 TNF	7124 8644	Homo sapiens (human)
DOID:9164	achalasia Aliases: Lack of reflex relaxation of lower oesophageal sphincter achalasia of cardia achalasia of esophagus cardiospasm esophageal achalasia hypertensive lower esophageal sphincter	AGA CALR ECI1 FUT3 GMPPA	1632 175 2525 29926 811	Homo sapiens (human)
DOID:2531	hematologic cancer Aliases: Hematologic malignancy Hematologic neoplasm Hematological tumors blood cancer hematopoietic and lymphoid system tumor hematopoietic cancer hematopoietic neoplasm hematopoietic tumors malignant hematopoietic neoplasm	A4GALT ABAT ABO ACE ACSL5 ACSL6 ALPI ALPP CALR CD109 CD22 CD38 CD44 CD74 CEACAM5 CEACAM7 CEL CERS6 CHI3L1 CHKA CHST9 COG1 CYP2B6 CYP2C19 CYP2J2 EBP FCGR3B FOLR2 FUT1 G6PD GPI HPGDS ICAM1 IDH1 IDH2 INPP5D KL KLRC1 LGALS3 LPL MICA MRC1 MSLN NCAM1 PAFAH1B1 PARP1 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2A PNP PPP1R3A PRKAA2 PTEN PTGS2 RECK SDC1 SELP SFTPA1 SIRT6 SOAT1 SPACA3 SPHK2 TP53 UGCG UGT1A4 UGT2B17	100507436 10232 1048 1056 10682 1087 1116 1119 124912 135228 142 1555 1557 1573 1636 18 2215 23305 2350 248 250 2523 253782 2539 27306 28 2821 3383 3417 3418 3635 3821 3958 4023 4360 4684 4860 5048 5130 51548 51703 5290 5291 5293 5294 5305 53947 54657 5506 5563 56848 5728 5743 6382 6403 653509 6646 7157 7357 7367 811 83539 8434 933 9365 9382 952 960 972	Homo sapiens (human)
DOID:2596	larynx cancer	ACACA ACAN ACE ACSS2 ADH1B ADH1C ADH5 ADH7 AKR1A1 ALDH2 ALG1 ANXA5 CAT CD14 CD44 CMAS CYP1A1 CYP1B1 CYP2B6 CYP2C19 CYP2E1 DCN FUT4 GAPDH GPX1 HADH HK2 HPGDS HYAL1 INPP4B INPPL1 LGALS1 MTAP NTHL1 OGG1 OGT PDIA3 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PTEN PTGS2 SHMT1 SIGLEC7 SLC2A3 SMUG1 SULT1E1 UGT1A1 UGT1A7 VCAN VTCN1	10327 125 126 128 131 1462 1543 1545 1555 1557 1571 1634 1636 176 217 23583 23659 2526 2597 27036 27306 2876 2923 3033 308 3099 31 3373 3636 3956 4507 4913 4968 5290 5291 5293 5294 54577 54658 55902 55907 56052 5728 5743 6470 6515 6783 79679 847 8473 8821 929 960	Homo sapiens (human)
DOID:0112002	immunodeficiency 47 Aliases: CDG IIs CDG2S CDGIIs IMD47 congenital disorder of glycosylation type IIs immunodeficiency and hepatopathy with or without neurologic features	ATP6AP1	537	Homo sapiens (human)
DOID:13300	Scheuermann's disease Aliases: Juvenile osteochondritis of the spine Juvenile osteochondrosis of Scheurermann Juvenile osteochondrosis of spine Scheuermann's kyphosis Sherman's Disease	CD38 GNPTAB	79158 952	Homo sapiens (human)
DOID:0060731	congenital central hypoventilation syndrome Aliases: CCHS Ondine curse Ondine syndrome central congenital hypoventilation syndrome congenital central alveolar hypoventilation syndrome	ACE CYP11B1 CYP11B2 CYP1A2 CYP2J2 ENOSF1 GNE GNPTAB IDS LGALS3 NANS PTEN PTGS2 SLC2A10	10020 1544 1573 1584 1585 1636 3423 3958 54187 55556 5728 5743 79158 81031	Homo sapiens (human)
DOID:0080109	infantile myofibromatosis Aliases: lipofibromatosis	ACAN SMUG1	176 23583	Homo sapiens (human)
DOID:0110844	xeroderma pigmentosum group C Aliases: XP group C XP3 XPC XPCC xeroderma pigmentosum III	CAT COMT CYP1B1 HPGDS HPRT1 MPG OGG1 PIK3CA PIK3CD PIK3CG PTEN PTGS2 SMUG1 TALDO1 XYLT2	1312 1545 23583 27306 3251 4350 4968 5290 5293 5294 5728 5743 64132 6888 847	Homo sapiens (human)
DOID:2348	arteriosclerotic cardiovascular disease Aliases: Cardiovascular arteriosclerosis	ABO ACACA ACACB ACADS ACAN ACAT1 ACAT2 ACE ACER2 ACHE ACLY ACOT7 ACSL1 ACSS2 ADH1A ADH1B ADH1C ADH5 AGPAT2 AGXT AKR1A1 AKR1B10 AKR1B1 ALDH2 ALOX12 ALOX15B ALOX5 ALPL ANXA5 APRT ARSA ARSB ARSD ARSI ASGR1 ATP6AP2 ATP6V0A2 B3GAT1 B4GALT1 CACNA2D4 CALR CANX CAT CD14 CD1D CD248 CD44 CD74 CDH13 CEL CERS1 CFC1 CH25H CHGA CHI3L1 CHIT1 CHST3 CLEC1B CLEC4E CLEC5A CLEC6A CLEC7A CLEC9A CNTN3 COLEC12 COMT CPT2 CSGALNACT2 CTBS CYP11B2 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP21A2 CYP27A1 CYP27B1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP2E1 CYP2J2 CYP2R1 CYP3A4 CYP3A5 CYP4A11 CYP4F2 CYP7A1 DAG1 DCN DGAT1 DGKK DHCR24 DHCR7 DLD DPEP2 DPEP3 EBP EFNA5 ELOVL6 ENPP1 ENPP7 EPHX2 EXTL3 FADS1 FADS2 FCGR3B FCN2 FCN3 FDPS FMOD FOLR2 FUT3 FUT7 FUT8 GAD1 GAL3ST1 GALNT2 GALNT3 GALNT4 GALNT7 GCK GGT1 GLO1 GLT1D1 GLUL GPD1L GPI GPIHBP1 GPLD1 GPX1 GPX3 GUSB H6PD HACD4 HAS2 HAS3 HJV HPGDS HPSE2 HPSE HS3ST1 HSD11B1 HSPG2 ICAM1 IDH2 IGF2R IL18R1 IL1RAP IL1RL1 INPP5D INPP5K ISYNA1 ITLN1 ITPK1 KL KLRK1 LCAT LDHA LGALS2 LGALS3 LIPA LIPC LIPG LMAN1 LPCAT3 LPL LSS LTA4H LYPLA1 LYZ MAG MBL2 MCFD2 MGAM MGLL MICA MMP17 MPI MRC1 MTAP NAAA NAGLU NAMPT NANS NCAM1 NDST4 NDUFAB1 NEU1 NT5E OGA OGDH OGG1 OLR1 OXCT1 PARP1 PARP2 PARP3 PC PCYT1A PCYT1B PEMT PFKL PIGF PIK3C2A PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKM PLA2G10 PLA2G12A PLA2G15 PLA2G1B PLA2G2A PLA2G2D PLA2G4A PLA2G4C PLA2G5 PLA2G6 PLA2G7 PLAUR PLB1 PLCD3 PLCG1 PLPP3 PNP PNPLA2 PNPLA3 PPP1R3B PRKAA2 PRNP PTEN PTGDS PTGES PTGIS PTGS1 PTGS2 RENBP RPN1 SCD SCP2 SDC1 SDC4 SELE SELL SELP SEMA7A SFTPA1 SFTPA2 SFTPD SGMS1 SGMS2 SGPL1 SI SIGLEC1 SIGLEC9 SIRT2 SIRT4 SIRT6 SLC17A5 SLC2A3 SLC33A1 SLC35A1 SLC35G1 SLC39A8 SLC5A1 SMC3 SMPD1 SMPD2 SMPD3 SMUG1 SOAT1 SOAT2 SPHK1 SPHK2 SRGN ST3GAL4 ST6GAL1 ST6GALNAC5 ST8SIA1 ST8SIA4 STS SUCLA2 SULT1E1 TBXAS1 TM7SF2 TPI1 TYMP UGT1A1 UGT1A6 UMOD VCAM1 VCAN VNN1	10038 10039 100507436 1012 10135 10159 10162 10327 10400 10434 10555 10559 1056 10682 10715 10724 10855 1113 1116 1118 113026 11332 11343 120227 124 125 126 128 1312 1376 139189 142 144423 1462 1486 148738 151056 1543 1544 1545 1555 1557 1558 1559 1571 1573 1576 1577 1579 1581 1585 1586 1588 1589 1593 159371 1594 1605 1634 1636 166929 1717 1718 1738 176 189 1890 1946 2053 2137 217 2180 2215 2220 2224 22914 22933 231 23171 2331 23409 2350 23545 23583 23601 23659 239 240 247 249 2525 2529 2530 2571 2590 2591 259230 26253 26279 2645 26503 2678 2683 27087 27163 27180 27306 2739 2752 28 2821 2822 283420 2876 2878 2990 3037 3038 308 31 32 3290 3339 3383 338328 339221 340075 340485 3418 3482 35 353 3556 3635 3705 38 39 3931 3939 3957 3958 3988 3990 3992 3998 401494 4023 4047 4048 4069 4099 410 411 412 414 4153 43 432 4326 4351 4360 4507 4669 4684 47 4706 4758 4860 4907 4967 4968 4973 5019 5067 5091 51266 5130 51477 51548 5167 51763 51809 5211 5281 5286 5290 5291 5293 5294 5310 5315 5319 5320 5321 5322 5329 5335 54187 54578 54658 55454 55512 5552 55600 5563 55902 55997 5621 56848 57016 57104 57124 5728 5730 5740 5742 5743 5973 60495 6184 6319 6342 6382 6385 6401 6402 6403 64116 64174 64180 6441 64579 64581 6476 6480 6484 6489 6515 6523 653509 6609 6610 6614 6646 6783 6916 7108 7167 729238 7369 7412 7903 79071 7941 79660 80339 81035 811 81579 81849 821 8398 8399 8435 847 8482 8529 8547 8605 8613 8693 8694 8803 8809 8876 8877 8879 8972 9023 90411 912 9126 9173 9197 929 93589 9365 9388 93978 9415 9468 9469 9514 9536 9563 960 972 9957	Homo sapiens (human)
DOID:0070137	autosomal recessive cutis laxa type IIB Aliases: ARCL2, progeroid type ARCL2B	ATP6AP1 ATP6V0A2 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 5336 537 5373 55556 79644 81031 847 9469 9487 9791	Homo sapiens (human)
DOID:0080544	hyper IgM syndrome Aliases: HIGM hyperimmunoglobulin M syndrome immunodeficiency with hyper-IgM	CHI3L1 FCER2 MRC1 UNG	1116 2208 4360 7374	Homo sapiens (human)
DOID:0060230	basal ganglia calcification Aliases: Fahr disease	MYORG	57462	Homo sapiens (human)
DOID:192	sex cord-gonadal stromal tumor Aliases: Sex Cord-Stromal neoplasm Sex cord stromal tumour Specialized gonadal neoplasm Specialized gonadal tumor Specialized gonadal tumour sex cord-gonadal stromal tumour	CYP19A1 CYP2B6 LGALS3	1555 1588 3958	Homo sapiens (human)
DOID:0050476	Barth syndrome Aliases: 3-methylglutaconicaciduria type 2 3-methylglutaconicaciduria type II MGA Type 2 MGA type II	ATRN HADHA PNPLA2	3030 57104 8455	Homo sapiens (human)
DOID:3329	benign epilepsy with centrotemporal spikes Aliases: BCECTS benign Rolandic epilepsy benign childhood epilepsy with centrotemporal spike rolandic epilepsy sylvan seizures	ARSA ASAH1 EPM2A MDGA2 PLCB1	161357 23236 410 427 7957	Homo sapiens (human)

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