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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 **4876 - 4900** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:0060875	isolated growth hormone deficiency type III Aliases: Fleisher syndrome IGHD III X-linked IGHD X-linked agammaglobulinemia and isolated growth hormone deficiency X-linked hypogammaglobulinemia and isolated growth hormone deficiency X-linked isolated growth hormone deficiency congenital IGHD type III congenital isolated GH deficiency type III congenital isolated growth hormone deficiency type III growth hormone deficiency with hypogammaglobulinemia	ACSM3 ADH5 CD44 CD55 CYP17A1 CYP19A1 GAS1 GK GPC1 HJV HS6ST1 HSD17B3 L1CAM MMUT NT5E PMM2 PNPLA6 SEMA7A SMPD3 SOAT1 STS TYMP	10908 128 148738 1586 1588 1604 1890 2619 2710 2817 3293 3897 412 4594 4907 5373 55512 6296 6646 8482 9394 960	Homo sapiens (human)
DOID:0110194	Charcot-Marie-Tooth disease type 4B3 Aliases: CMT4B3	ACE AMACR ARSA CANX CAT CD44 CYP4F3 DGAT2 FIG4 GBA1 GPX2 HADHB HK1 HPSE LCAT LPIN1 MAG MTM1 MTMR2 PGK1 PGM1 PLCB4 PLCE1 PRNP PRPS1 PTGS2 SIGLEC7 SPTLC1 SPTLC2	10558 10855 1636 23175 23600 2629 27036 2877 3032 3098 3931 4051 4099 410 4534 51196 5230 5236 5332 5621 5631 5743 821 84649 847 8898 9517 960 9896	Homo sapiens (human)
DOID:0110845	xeroderma pigmentosum group D Aliases: XP group D XP group H XP4 XP8 XPD XPDC XPH xeroderma pigmentosum IV xeroderma pigmentosum VIII	CAT COMT CYP1B1 HPGDS HPRT1 ICAM1 OGG1 PTEN SLC35A2 SMUG1 TALDO1 UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9 XYLT2	1312 1545 23583 27306 3251 3383 4968 54575 54576 54577 54578 54579 54600 54657 54658 54659 56886 5728 64132 6888 7355 847	Homo sapiens (human)
DOID:2065	syringoma	AMACR CD44 CYP24A1 G6PD GALK1 GLB1 GPC3 HPSE ICAM1 LGALS3 LGALS9 MTAP NSDHL PARP1 PIK3CA PKD1 PKM PLA2G6 PLCB4 PTEN PTGS2 RECK SDHB SDHC SDHD SIRT6 STS VCAN	10855 142 1462 1591 23600 2539 2584 2719 2720 3383 3958 3965 412 4507 50814 51548 5290 5310 5315 5332 5728 5743 6390 6391 6392 8398 8434 960	Homo sapiens (human)
DOID:5062	phencyclidine abuse Aliases: PCP abuse	FDFT1	2222	Homo sapiens (human)
DOID:3071	gliosarcoma Aliases: Glioblastoma with sarcomatous component	ACAT1 ACE ACOD1 ACOT7 ACSBG1 ACSL1 ACSL3 ACSL4 ACSL5 ACSS2 ACYP2 AGK AGPS AKR1B1 ALDH1A3 AMACR ANXA5 ANXA7 APRT ART1 ATP6AP2 ATP6V0A2 ATRN B4GALT5 BCAN BDH1 CACNA2D3 CALR CAT CD109 CD44 CD48 CD74 CD93 CDH13 CEACAM5 CERS1 CHI3L1 CHKA CHPF CHPT1 CHSY3 CLC CLEC5A CNTFR CNTN1 CNTN2 COL9A2 CSPG4 CYP17A1 CYP19A1 CYP1A1 CYP1B1 CYP27B1 CYP2B6 CYP2C9 CYP2E1 CYP2J2 DAG1 DBT DCN DCTD DHCR24 DHDDS DPEP1 EBP EFNA1 ELOVL2 ENO1 ENOSF1 EXT1 FASN FBP1 FBXO17 FIG4 FMOD FUT4 G6PD GAD1 GAL3ST1 GALNT2 GALNT7 GAPDH GAS1 GLB1 GLDC GLO1 GLUL GOLPH3 GPC1 GPC5 GPD1 GPD2 GPI GPIHBP1 GPNMB GPX1 HAS2 HEXA HEXB HK1 HK2 HMMR HPGDS HPSE HSPG2 HYAL1 HYAL2 HYAL3 ICAM1 IDH1 IDH2 IL18R1 IMPA1 ISYNA1 ITPKA KHK KLRK1 L1CAM LAYN LDHA LGALS1 LGALS3 LGALS9 LPL LSS LYZ MAG MBD4 MBL2 ME1 MELTF MGAT1 MGAT5 MICA MMUT MPG MPI MRC1 MSLN MTAP MTMR3 MUTYH NAMPT NANS NT5E OPCML OXCT1 PARP1 PDIA3 PFKFB4 PGAM1 PGK1 PIK3C2B PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKD2 PKM PLA2G4C PLA2G5 PLAUR PLCB1 PLCG1 PLD1 PLD2 PLEKHA8 PLOD3 PNLIP PNPLA2 PRKAA2 PRNP PRSS8 PSAP PSMD10 PTEN PTGES PTGS1 PTGS2 QPRT RECK RTN4R SCD SDC1 SDC2 SDHC SDHD SEMA7A SGMS1 SGMS2 SHMT2 SIGLEC7 SIRT2 SIRT6 SLC2A3 SLC2A5 SLC35A1 SLC35A3 SLC37A4 SMPD1 SMUG1 SOAT1 SPHK1 SPHK2 SPTLC1 SRD5A1 SRGN ST6GAL1 ST6GALNAC5 ST8SIA1 STS SUCLG1 SULF2 THEM4 TIGAR TKT TKTL1 TM7SF2 TMED5 TNFRSF10C TPI1 TREH TUSC3 TYMP UGP2 UGT8 VCAM1 VCAN	100507436 1012 10135 10159 10232 10457 1048 10558 10559 10682 10715 10855 1116 11181 1119 11332 115290 117145 1178 1271 1272 1298 135228 142 143903 1462 1464 1543 1545 1555 1559 1571 1573 1586 1588 1594 1605 1629 1634 1635 1636 166929 1718 1800 1890 1942 2023 2131 2180 2181 2182 2194 220 2203 2262 22914 22918 22933 231 23205 23236 2331 23443 23475 23545 23583 23600 23601 2526 2539 2542 2571 2590 259230 2597 2619 27036 2720 27306 2731 2739 2752 2817 2819 2820 2821 2876 2923 3037 3073 3074 308 3098 3099 310 3161 3339 3373 337876 3383 338328 3417 3418 353 3612 3706 3795 38 3897 3939 3956 3958 3965 4023 4047 4069 4099 412 4153 417 4199 4241 4245 4249 4350 4351 4360 4507 4594 4595 4907 4978 5019 50999 51477 51548 51703 51809 5210 5223 5230 5287 5290 5291 5293 5294 5310 5311 5315 5322 5329 5335 5337 5338 5406 54187 54898 5552 55556 5563 55750 55799 55902 55959 5621 5652 5660 56848 56994 57103 57104 5716 5728 5742 5743 622 6319 6382 63827 6383 6391 6392 64083 6472 6480 6489 65078 6515 6518 6609 6646 6715 6900 7086 7108 7167 730249 7360 7368 7412 79586 7991 79947 811 81849 8277 8372 8434 8455 847 84725 8482 8540 8605 8692 8794 8802 8809 8877 8897 8930 8985 9334 9514 9536 960 962 972 98 9896	Homo sapiens (human)
DOID:0110108	atrial heart septal defect 3 Aliases: ASD3 atrial septal defect 3	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:0110848	xeroderma pigmentosum group F Aliases: XP group F XP6 XPF xeroderma pigmentosum VI	CAT COMT CYP1B1 HPGDS HPRT1 OGG1 PTEN SMUG1 TALDO1 XYLT2	1312 1545 23583 27306 3251 4968 5728 64132 6888 847	Homo sapiens (human)
DOID:5766	pulmonary sclerosing hemangioma Aliases: Pneumocytoma	CEACAM5 PTEN SMUG1	1048 23583 5728	Homo sapiens (human)
DOID:3540	choroid plexus cancer Aliases: tumor of choroid plexus tumor of the Choroid Plexus	ENPP2 PLAUR	5168 5329	Homo sapiens (human)
DOID:0060022	CD40 ligand deficiency Aliases: HIGMX-1 X-linked hyper-IgM syndrome	CHI3L1 FCER2 HPRT1 IL18R1 MRC1 PIK3CA PIK3CB PIK3CD PIK3CG UNG	1116 2208 3251 4360 5290 5291 5293 5294 7374 8809	Homo sapiens (human)
DOID:0060540	Hermansky-Pudlak syndrome 2	GOLPH3	64083	Homo sapiens (human)
DOID:0110135	Bardet-Biedl syndrome 13 Aliases: BBS13	INPP5E PIGX	54965 56623	Homo sapiens (human)
DOID:0110658	congenital myasthenic syndrome 15 Aliases: CMS15 congenital myasthenic syndrome 15 without tubular aggregates	ALG14	199857	Homo sapiens (human)
DOID:0060276	pontocerebellar hypoplasia type 7	ATP6V0A2 ATP6V1A B3GALNT2 B4GAT1 CRPPA DAG1 DHCR24 DLST FIG4 FKRP FKTN HSPG2 LARGE1 NSDHL PAFAH1B1 PIGP PIGQ POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1 SDC2 STS TMTC3	10329 10585 11041 148789 160418 1605 1718 1743 2218 23545 29954 3339 412 5048 50814 51227 523 55624 6383 729920 79147 84197 84892 9091 9215 9896	Homo sapiens (human)
DOID:11257	social phobia	ABO CAT COMT GAD1 MANEA NANS PSAP	1312 2571 28 54187 5660 79694 847	Homo sapiens (human)
DOID:0050813	spondyloepiphyseal dysplasia with congenital joint dislocations Aliases: CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS CHST3-Related Skeletal Dysplasia Humero-spinal dysostosis with congenital heart disease Kozlowski Celermajer Tink syndrome Omani Type Spondyloepiphyseal Dysplasia humero-spinal dysostosis humerospinal dysostosis	CHST3	9469	Homo sapiens (human)
DOID:0110511	autosomal recessive nonsyndromic deafness 59 Aliases: DFNB59 autosomal recessive deafness 59	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:10487	Hirschsprung's disease Aliases: Hirschsprung disease aganglionic megacolon congenital megacolon macrocolon pelvirectal achalasia total intestinal aganglionosis	ABO ACHE B3GALT6 CD14 CNTN5 CNTN6 COMT CSGALNACT2 CYP2B6 ENO2 FH GFRA1 GFRA2 GFRA4 ICAM1 IL1RL2 INPP5E ITPKC L1CAM PGAP2 PGAP3 PGP PIGA PIGL PIGN PIGO PIGV PIGW PIGY PIK3CG PLCB1 PTGES SIGLEC8 SLC2A1	126792 1312 1555 2026 2271 23236 23556 2674 2675 27181 27255 27315 28 283871 284098 3383 3897 43 5277 5294 53942 55454 55650 56623 64096 6513 80271 84720 84992 8808 929 93210 9487 9536	Homo sapiens (human)
DOID:0110476	autosomal recessive nonsyndromic deafness 1B Aliases: DFNB1B autosomal recessive deafness 1B	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:1921	Klinefelter syndrome Aliases: 47, XXY Hypogonadotropic Hypogonadism Klinefelter's syndrome XXY syndrome XXY trisomy	CYP19A1 EBP GK IL1RAPL1 PNPLA6 SOAT1 STS	10682 10908 11141 1588 2710 412 6646	Homo sapiens (human)
DOID:0090037	torsion dystonia 13	ALDH5A1	7915	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:8719	in situ carcinoma	AKT1 ALOX5 ALPL CD33 CD44 HPSE HSPG2 IGF2R LDHB MMP25 MMUT MRC1 PDHX PIK3CA PKM PLD2 PTEN PTGES PTGS2 SDHB STS	10855 207 240 249 3339 3482 3945 412 4360 4594 5290 5315 5338 5728 5743 6390 64386 8050 945 9536 960	Homo sapiens (human)
DOID:1557	hypersensitivity reaction type III disease Aliases: immune complex disease	CD22 MASP2	10747 933	Homo sapiens (human)

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