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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 **4976 - 5000** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:12134	factor VIII deficiency Aliases: Congenital factor VIII disorder Hemophilia A Subhemophilia classic hemophilia A	ABO FUT1 G6PD GUSB HPSE2 LMAN1 MCFD2 MRC1 PRNP	2523 2539 28 2990 3998 4360 5621 60495 90411	Homo sapiens (human)
DOID:0050465	Muir-Torre syndrome	MRC1 MUTYH	4360 4595	Homo sapiens (human)
DOID:12165	retinal lattice degeneration Aliases: Palisade degeneration of retina	RPE	6120	Homo sapiens (human)
DOID:14755	argininosuccinic aciduria Aliases: Argininosuccinate lyase deficiency argininosuccinic acidemia arginosuccinase deficiency deficiency of argininosuccinate lyase	ARSA ARSD RGN	410 414 9104	Homo sapiens (human)
DOID:0050847	sleep apnea	ACE ADIPOQ CYP1A2 CYP2J2 ENOSF1 GNE GNPTAB IDS LEPR LGALS3 NANS PTEN PTGS2	10020 1544 1573 1636 3423 3953 3958 54187 55556 5728 5743 79158 9370	Homo sapiens (human)
DOID:5419	schizophrenia Aliases: schizophrenia-1	ABO ACACA ACADS ACAN ACE ACHE ACO2 ACOT7 ACSL4 ACSL6 ACSM1 ADH5 AGA AKR1A1 AKT1 ALDH2 ALDH3A1 ALDH3B1 ALDH7A1 ALDOC ALG1 ALG9 ALOX12 ALPL AMACR AMY1A APRT ARSA ARSD ARSG ASAH1 ATP6V1A B3GAT1 B3GAT2 B3GNT2 CACNA2D3 CALR CAT CD14 CD38 CD48 CDH13 CERK CFC1 CHAT CHGA CHI3L1 CHPT1 CHST10 CHST11 CHST3 CHST9 CLEC10A CNTN2 CNTN4 CNTN5 CNTN6 COMT CRLS1 CSPG4 CSPG5 CYP19A1 CYP1A2 CYP21A2 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP3A4 CYP3A5 CYP4F3 DEGS2 DGCR2 DGKH DGKI DGKZ DHDDS DLD EBP EDEM2 EFNA5 ELOVL5 ENO2 EPHX2 EPM2A ETNPPL EXT1 FADS1 FADS2 FBP1 FCN2 FH FUCA2 FUT11 FUT8 G6PD GAD1 GAD2 GALC GALNT10 GALNT2 GAPDH GBA1 GCSH GFRA1 GFRA2 GLDC GLO1 GLT8D1 GLUL GLYCTK GNPAT GPC1 GPC6 GPX1 GSK3B GTDC1 GUSB HAGH HK1 HK2 HPGDS HS3ST5 HS6ST1 HSD11B2 HSD17B12 HSPG2 HTR2A ICAM1 IL18R1 IL1R1 IMPA2 INPP5A KL L1CAM LCT LGALS1 LGALS3 LIPC LMAN2L LPL MAG MAN1C1 MAN2A1 MAN2A2 MCAT MDGA1 MDH1 ME2 MECR MGAT1 MPI NCAM1 NCAN NDST3 NEU1 NPL NTM NTNG1 OGG1 OPCML PAFAH1B1 PARP1 PARP9 PCCB PCK1 PCYT1A PEMT PFKM PGK1 PGP PI4K2B PI4KA PIK3C2A PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2A PIP4K2C PLA2G10 PLA2G12A PLA2G15 PLA2G1B PLA2G2A PLA2G4A PLA2G4B PLA2G4C PLA2G4D PLA2G5 PLA2G6 PLA2G7 PLB1 PLCB1 PLCB4 PLCG1 PLCH2 PLPP1 PMM2 PNPLA2 POFUT1 POFUT2 PPARA PPT1 PRNP PSAP PSMD10 PTEN PTGDS PTGES3 PTGIS PTGS1 PTGS2 RBKS RENBP RFT1 RPN2 RTN4R SCD SDHA SELL SHMT1 SHMT2 SLC27A5 SLC2A3 SLC35G1 SLC39A8 SMPD3 SMUG1 SPTLC1 SRD5A2 ST3GAL1 ST3GAL3 ST6GALNAC1 ST8SIA2 ST8SIA3 ST8SIA4 STS STT3A SULT1E1 SUMF1 TBXAS1 TIGAR TKT TMED5 TMTC1 TNF TPI1 TUSC3 UGT1A3 UGT1A8 UXS1 VCAM1	100137049 10082 1012 10327 10400 10462 10558 10675 10678 10682 10728 10998 1103 1113 1116 11332 116285 123099 128 1312 132158 135152 142 1463 1464 151056 152330 1544 1555 1557 1559 1571 1576 1577 1588 1589 159371 160851 1636 170384 1738 175 176 1946 2026 2053 207 2131 217 218 2182 2203 221 2220 222537 2271 22854 22901 230 23236 23275 23305 23509 23583 23600 23659 239 249 2519 2530 2539 2571 2572 2581 2590 2597 2629 2653 266727 2674 2675 27087 27255 27306 2731 27349 2739 2752 276 28 2817 283748 283871 285362 2876 2932 2990 3029 3098 3099 31 3291 3339 3356 3383 35 353 3554 3613 3632 3703 3897 3938 3956 3958 3990 3992 4023 4051 4099 410 412 4122 4124 414 4190 4200 4245 427 43 4351 4684 4758 4968 4978 50 501 5048 50515 50863 5096 50999 51046 5105 51102 51144 5130 5213 523 5230 5286 5289 5290 5291 5293 5294 5297 5305 5319 5320 5321 5322 5332 5335 5373 53942 54576 5465 54659 54675 55300 5538 55512 55568 55741 55799 55808 55830 55997 56052 5621 5660 56994 57103 57104 57134 5716 5728 5730 5740 5742 5743 5973 60481 6185 6319 6389 6402 64080 64116 6470 6472 64781 6482 64850 6487 65078 6515 6716 6783 6900 6916 7086 7124 7167 7412 7903 7941 7957 79712 79796 79837 7991 79947 80146 80896 811 8128 81562 81579 83539 83666 83857 8398 8399 8443 847 8525 8605 8611 8809 9162 91869 929 9348 9365 9394 9415 9469 9486 952 962 9651 9993	Homo sapiens (human)
DOID:7757	childhood leukemia	ABO ACE ACHE AKR1C3 AKR1C4 ALOX5 ALPI ALPP ANXA7 APRT ARSH B3GAT1 B4GALT1 BPHL BST2 CALR CD14 CD1D CD22 CD33 CD38 CD44 CD48 CH25H CHI3L1 CLEC12A CNTN2 CSPG4 CYP1A1 CYP1B1 CYP2B6 CYP2E1 CYP3A5 DAG1 DGKA DLD EBP ENO2 ENOSF1 EXT1 FCER2 FCGR3B FMOD FUT1 FUT3 FUT4 G6PD GLB1 GPI GPX3 HK1 HK2 HMMR HPGDS HPRT1 HSD11B2 ICAM1 IDH1 IDH2 IL18R1 IL1R1 IL1RL1 INPP4B INPP5D KLRK1 LDHA LGALS1 LGALS3 LYZ MACROD1 MICA MRC1 MSLN NAMPT NCAM1 NT5E PAFAH1B1 PARG PARP1 PARP4 PGD PGP PI4K2B PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2A PKM PLA2R1 POGLUT1 PRKAA2 PTEN PTGS1 PTGS2 RPN1 RTN4R SELE SELL SHMT1 SIGLEC10 SIGLEC1 SIRT6 SLC39A8 SMPD2 SOAT1 ST8SIA4 TALDO1 TIGAR TNFRSF10C UGCG ULBP2 UMOD UNG VCAM1 VTCN1	100507436 10135 10232 10682 1109 1116 142 143 1464 1543 1545 1555 1571 1577 160364 1605 1606 1636 1738 2026 2131 2208 2215 22914 22925 2331 240 248 250 2523 2525 2526 2539 2683 27087 2720 27306 28 2821 283871 2878 28992 3098 3099 310 3161 3251 3291 3383 3417 3418 347527 353 3554 3635 3939 3956 3958 4069 43 4360 4684 4907 5048 51548 5226 5290 5291 5293 5294 5305 5315 55300 55556 5563 56983 57103 5728 5742 5743 6184 6401 6402 64116 6470 65078 6610 6614 6646 670 684 6888 6900 7357 7369 7374 7412 7903 79679 80328 811 8505 8644 8794 8809 8821 89790 9023 912 9173 929 933 945 952 960 962	Homo sapiens (human)
DOID:4906	small intestine adenocarcinoma Aliases: small intestinal adenocarcinoma	HPGDS MRC1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN SMUG1 UGT1A1	23583 27306 4360 5290 5291 5293 5294 54658 5728	Homo sapiens (human)
DOID:1749	squamous cell carcinoma Aliases: epidermoid carcinoma malignant squamous cell tumor squamous carcinoma squamous cell Epithelioma squamous cell cancer	ABO ACE ACLY ADH1B ADH1C ADH4 ADH5 ADH7 AGK AKR1A1 AKR1B10 AKR1C1 AKR1C2 AKR1C3 ALDH2 ALDH7A1 ALOX12 ALOX12B AMACR ANXA5 ANXA9 ARSF ART1 ATRN B3GAT1 CALR CAT CD109 CD248 CD33 CD44 CD74 CDH13 CEACAM5 CEACAM6 CEACAM7 CERS6 CHGA CHI3L1 CHKA CHPT1 CLEC10A CNTN1 COMT CYP1A1 CYP1A2 CYP1B1 CYP24A1 CYP27B1 CYP2B6 CYP2C19 CYP2C8 CYP2E1 CYP2J2 CYP2R1 CYP3A5 CYP4F3 DAG1 DCN DGKA DHDDS DPAGT1 EBP EFNA1 ENO1 ENO2 FASN FBP1 FCER2 FCGR3B FDPS FOLR2 FUCA1 FUT1 FUT4 GALC GALNT2 GALNT3 GGT1 GPAA1 GPC1 GPC3 GPNMB GPX1 HAS2 HK1 HK2 HMMR HPGDS HPSE2 HPSE HS3ST2 HSD17B1 HSPG2 HYAL1 HYAL2 ICAM1 ICAM5 IDH1 IGF2R INPP5A KL KLRK1 L1CAM LDHB LGALS1 LGALS3 LGALS8 LGALS9 LIPA LSS LTA4H LY6K LYPD3 LYPD5 MASP1 MCAT ME1 MGAM MGLL MICA MRC1 MTAP NAMPT NANS NCAM1 NEIL1 NEIL2 NT5E NTHL1 OGG1 PARP1 PCYT1A PDIA3 PFKFB3 PGAM1 PGD PGP PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G4A PLAUR PLCD1 PLCE1 PLCG1 PLCH1 PLD2 PLPP2 PRKAA2 PRNP PSMD10 PTEN PTGDS PTGES PTGIS PTGS1 PTGS2 RECK REG1B RTN4R SDC1 SDC2 SELE SFTPA1 SFTPA2 SFTPD SGPP1 SHMT1 SIGLEC7 SIRT2 SIRT4 SIRT6 SLC2A2 SLC2A3 SLC2A4 SLC5A1 SMUG1 SOAT1 SPAM1 ST3GAL4 ST6GAL1 ST8SIA4 STS SULF2 TALDO1 TKTL1 TNKS2 TP53 TPI1 TUSC3 TYMP UGT1A10 UGT1A1 UGT1A7 UGT1A9 UMPS UNG UPP2 VCAM1 VTCN1	100507436 1012 10135 10327 10457 10462 1048 10682 10855 1087 1113 1116 1119 11343 120227 125 126 127 1272 128 131 1312 135228 142 151531 1543 1544 1545 1555 1557 1558 1571 1573 1577 1591 1594 1605 1606 1634 1636 1645 1646 1798 1890 1942 2023 2026 217 2194 2203 2208 2215 2224 22914 22933 23007 23409 2350 23583 23600 239 242 2517 2523 2526 252969 253782 2581 2590 2591 2678 27036 27076 27087 2719 27306 27349 28 2817 283871 284348 2876 2923 3037 308 3098 3099 3161 3292 3339 3373 3383 3417 3482 3632 3897 3945 3956 3958 3964 3965 3988 4047 4048 4051 412 416 417 4199 4360 4507 4680 4684 47 4907 4913 4968 501 51196 5130 51548 5209 5223 5226 5290 5291 5293 5294 5315 5321 5329 5333 5335 5338 54187 54575 54577 54600 54658 54742 5563 55750 55959 5621 5648 56994 57016 57124 5716 5728 5730 5740 5742 5743 5968 60495 6382 6383 6401 6441 6470 6480 6484 65078 6514 6515 6517 6523 653509 6646 6677 6888 7087 7157 7167 729238 7372 7374 7412 7903 79661 79679 7991 79947 80351 811 81537 8277 8416 8434 8455 847 8612 8644 8692 8733 8972 9365 945 9536 960 972 9956	Homo sapiens (human)
DOID:0060700	familial hypocalciuric hypercalcemia 1 Aliases: FHH type 1 HHC1 familial benign hypercalcemia 1 familial hypocalciuric hypercalcemia type I hypocalciuric hypercalcemia type I	ALPP ATRNL1 CYP24A1 PTGS2	1591 250 26033 5743	Homo sapiens (human)
DOID:0080128	mitochondrial DNA depletion syndrome 9 Aliases: fatal infantile lactic acidosis	SUCLA2 SUCLG1	8802 8803	Homo sapiens (human)
DOID:0110303	autosomal dominant limb-girdle muscular dystrophy type 1H Aliases: LGMD1H muscular dystrophy limb-girdle type 1H	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:0080693	Noonan syndrome-like disorder with loose anagen hair 2	PPP1CB	5500	Homo sapiens (human)
DOID:5403	microcystic adenoma	ACACA ACE ACSL4 ADH1C AKR1B10 AKR1B1 ALDH2 ALOX12 ALOX5 AMACR APRT ARSA BAAT CALR CD44 CD74 CDH13 CEACAM5 CEACAM6 CEACAM7 CEMIP CHGA CHI3L1 CHPT1 CHST3 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP21A2 CYP24A1 CYP2C9 CYP2E1 CYP3A5 DHCR24 DLD DPEP1 ENO2 ENPP7 FUT4 FUT8 G6PC1 GALNT12 GFRA2 GLUL GPC3 GPNMB GPX1 GPX2 GUSB HPGDS HPSE HSD11B1 HSD11B2 HSD17B1 HSD17B7 HSD3B1 HSPG2 IDH1 IGF2R KL LGALS1 LGALS3 LGALS4 LMAN1 LYZ MBD4 MGAT5 MGLL MPG MRC1 MTAP MUTYH NAGLU NAMPT NCAM1 NTHL1 OGG1 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PSMD10 PTEN PTGIS PTGS1 PTGS2 QPRT SDC2 SDHC SELL SHMT1 SLC26A2 SLC2A3 SLC33A1 SMUG1 SORD SPHK1 UGT1A1 UGT1A6 VCAN	1012 10135 10457 1048 10855 1087 1113 1116 11343 126 142 1462 1543 1544 1545 1559 1571 1577 1583 1584 1585 1586 1588 1589 1591 1636 1718 1738 1800 1836 2026 217 2182 231 23475 23583 23600 239 240 2526 2530 2538 2675 2719 27306 2752 2876 2877 2990 31 3283 3290 3291 3292 3339 339221 3417 3482 353 3956 3958 3960 3998 4069 410 4249 4350 4360 4507 4595 4669 4680 4684 4913 4968 51478 5290 5291 5293 5294 54578 54658 56994 570 57016 5716 57214 5728 5740 5742 5743 6383 6391 6402 6470 6515 6652 79695 811 8877 8930 9197 9365 9469 960 972	Homo sapiens (human)
DOID:6245	renal oncocytoma Aliases: Oncocytoma of kidney renal epithelial Oncocytic tumor	AMACR CD44 HMMR HYAL4 LDHA PIK3CA PRSS8 PTGS2 SDC1 SLC2A2 SLC2A4	23553 23600 3161 3939 5290 5652 5743 6382 6514 6517 960	Homo sapiens (human)
DOID:7912	mixed oligodendroglioma-astrocytoma Aliases: WHO grade II mixed glioma	ACLY CAT 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 STS SULT1E1 UGT8	10855 1116 1464 2026 2194 23236 2752 3339 3417 3418 3956 3958 412 4594 47 5290 5291 5293 5294 5321 5728 5743 6390 6783 6900 7368 79947 847 8605 960	Homo sapiens (human)
DOID:12139	dysthymic disorder Aliases: dysthymia	ACACA ACE ACHE ACOT7 ACOX1 ACSL4 ACSS2 ADH1B ADH1C AKR1A1 AKR1C2 AKR1C4 ALDH2 ALDH3A1 ALDH7A1 ALG8 ALOX5 ALPL AMACR AMT AMY1A AMY1B AMY1C ANXA4 APRT ARSA ARSD ARSG ARSI ATP6AP2 B3GALNT2 B3GAT1 BST1 CALR CAT CD38 CDH13 CHAT CHPF CHPT1 CLEC4E CNTN3 COL9A2 COMT CPT1A CRLS1 CS CSPG4 CYP19A1 CYP27A1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP3A4 CYP46A1 DEGS1 DGKB DHDDS DLD EPM2A FDPS FIG4 GAD1 GAD2 GALC GBA1 GLA GLO1 GLT8D1 GLUL GOLPH3 GPI GPX1 HACD3 HPGDS HPSE HS6ST1 HSD11B1 ICAM1 IDS IDUA IMPA2 INPP5K INPPL1 KL LDHA LGALS1 LGALS3 LIPA LMAN2L LTA4H M6PR MAG MAN1B1 MBOAT7 MCAT MDH2 ME1 MPG MUTYH NANS NCAM1 NDST1 NEIL1 NT5E OCRL OGG1 PAFAH1B1 PARP1 PGAP1 PGD PGP PIGC PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLB1 PNPLA2 PNPLA6 PPP1R3B PPP1R3C PPT1 PRNP PSAP PTEN PTGDS PTGS1 PTGS2 RGN SCD SDHD SELP SGMS2 SIGLEC7 SIRT2 SIRT6 SLC17A5 SLC2A4 SLC33A1 SLC35G1 SMPD1 SMUG1 SOAT1 SRD5A1 ST3GAL3 ST3GAL4 ST8SIA4 SUCLA2 SULT1E1 TECR TGDS TUSC3 UGCG VCAM1 XYLT2	1012 10159 10327 10855 10858 10908 1103 1109 11253 11332 125 126 1298 1312 1374 142 1431 1464 148789 151056 1555 1557 1559 1571 1576 1588 1593 159371 1607 1636 1646 166929 1738 217 218 2182 2224 22901 22933 23483 23583 23600 23659 240 249 2571 2572 2581 26253 2629 26503 27036 27087 2717 27306 27349 2739 275 2752 276 277 278 2821 283871 2876 307 31 3290 3340 3383 340075 3423 3425 353 3613 3636 3939 3956 3958 3988 4048 4074 4099 410 414 4191 4199 43 4350 4595 4684 4907 4952 4968 501 5048 5067 51 51495 51548 51763 5226 5279 5290 5291 5293 5294 5319 5320 5321 54187 54675 5507 5538 55830 55902 5621 5660 56994 57104 5728 5730 5742 5743 6319 6392 6403 64083 64132 6484 6487 6517 6609 6646 6715 6783 683 7357 7412 7903 79053 79143 7957 79586 79660 79661 7991 79947 80055 811 81562 8398 847 8560 8803 9104 9197 9365 9394 952 9524 9896	Homo sapiens (human)
DOID:0111052	Scott syndrome Aliases: BDPLT7 SCTS bleeding abnormality due to deficiency of platelet biding of factor X familial prothrombin consumption inhibitor familial prothrombin conversion defect platelet-type bleeding disorder 7 prothrombin consumption deficiency	ANXA5	308	Homo sapiens (human)
DOID:643	progressive multifocal leukoencephalopathy	ARSF CAT CD14 GAD1 HPGDS PARP1 PLAUR PRNP PSAP SCP2 SOAT1	142 2571 27306 416 5329 5621 5660 6342 6646 847 929	Homo sapiens (human)
DOID:8442	paralytic ileus	IDS L1CAM PTEN SDHD	3423 3897 5728 6392	Homo sapiens (human)
DOID:14239	gastrointestinal tularemia Aliases: Enteric tularemia intestinal tularaemia	MBL2	4153	Homo sapiens (human)
DOID:0081122	Catel Manzke syndrome Aliases: Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome Micrognathia digital syndrome	TGDS	23483	Homo sapiens (human)
DOID:0060475	myoclonic-atonic epilepsy Aliases: EEOC childhood onset epileptic encephalopathy	SLC25A10	1468	Homo sapiens (human)
DOID:899	choledochal cyst Aliases: Congenital choledochal cyst bile duct cyst biliary cyst	CD14 SMUG1	23583 929	Homo sapiens (human)
DOID:2433	epidermal appendage tumor Aliases: neoplasm of skin with adnexal differentiation neoplasm of the skin Appendage skin appendage tumour	ACACA	31	Homo sapiens (human)

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