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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 **2551 - 2575** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:9786	bulbar polio Aliases: bulbar poliomyelitis	CHAT ICAM1 MMUT MRC1 PIK3CA	1103 3383 4360 4594 5290	Homo sapiens (human)
DOID:10780	primary polycythemia Aliases: Familiar Polycythemia familial erythrocytosis	ACE CD177 FCER2 PKLR SLC17A5	1636 2208 26503 5313 57126	Homo sapiens (human)
DOID:4249	Gerstmann-Straussler-Scheinker syndrome Aliases: Gerstmann-Straussler-Scheinker disease PRION DEMENTIA	ACHE APRT CYP7A1 G6PC1 GBE1 GYG1 GYS2 MDH1 MGAM PRNP PYGL PYGM SI SLC37A4	1581 2538 2542 2632 2992 2998 353 4190 43 5621 5836 5837 6476 8972	Homo sapiens (human)
DOID:399	tuberculosis	ACACA ACE ACOT7 ACSBG2 ADH4 AGA AKR1B1 ALDH2 ALDH5A1 ALOX12 ALOX15 ALOX5 ALPI ALPP AMACR ANXA5 APRT ARSA ARSB ART1 ATP6AP1 B3GAT1 BAAT BST1 CALR CAT CBR4 CD14 CD209 CD38 CD44 CD48 CD55 CEL CFC1 CHIT1 CLEC4E CLEC6A CLEC7A CLEC9A CMAS COLEC11 CYP1A1 CYP27B1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP2R1 CYP3A4 CYP3A5 CYP4F3 CYP51A1 CYP7A1 DLD DPAGT1 EHHADH ENO1 ENO2 EXTL3 FASN FCGR3B FCN2 FCN3 FUT2 GALE GALNS GAPDH GCNT2 GK GLA GLO1 GLUL GUSB HACD1 HPGDS HPRT1 HPSE HSD17B6 HSD17B8 HSPG2 ICAM1 IL18R1 IL1R1 KLRB1 KLRK1 LDHC LGALS3 LGALS9 LTA4H LY75 LYZ MASP1 MASP2 MBL2 MICA MLYCD MMUT MPG MRC1 NCAM1 NDUFAB1 NT5E NTM OXSM PARP9 PC PFKM PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G10 PLA2G2A PLAUR PNP PRKAA2 PTGS2 RBKS RENBP SDC1 SDHD SELL SFTPA1 SFTPA2 SFTPD SIGLEC1 SIRT2 SIRT6 SLC17A5 SLC27A5 SLC2A3 SLC39A8 SMPD1 SMPD2 SMUG1 STS SUCLA2 TLR1 TLR2 TLR6 TMED9 TNF TPI1 UGT1A1 UGT2B7 UMOD UMPS UPP1 VTCN1	100507436 10333 1056 10747 10855 10998 1118 11332 120227 127 1543 1555 1557 1559 1571 1576 1577 1581 1594 1595 1604 1636 1738 175 1798 1962 2023 2026 2137 217 2194 2215 2220 22914 22933 231 23417 23583 23600 239 240 246 248 250 2524 2582 2588 2597 26253 26503 2651 27087 2710 2717 27306 2739 2752 283420 2990 308 30835 31 3251 3339 3383 353 3554 3820 3948 3958 3965 4048 4051 4065 4069 410 411 412 4153 417 4350 4360 4594 4684 4706 4860 4907 50863 5091 51548 5213 5236 5290 5291 5293 5294 5320 5329 537 54658 54732 54995 5563 55907 55997 5648 570 5743 5973 6382 6392 6402 64080 64116 6441 64581 6515 653509 6609 6610 6614 683 7096 7097 7124 7167 729238 7364 7369 7372 7378 78989 7915 7923 79679 811 81616 83666 8399 847 84869 8547 8630 8803 8809 9200 929 93978 952 960 962	Homo sapiens (human)
DOID:4471	chromophobe renal cell carcinoma Aliases: Chromophobe carcinoma of kidney chromophobe adenocarcinoma kidney chromophobe renal cell carcinoma, chromophobe cell	ACACA ACADM ACAT1 ACAT2 ACE ACHE ACLY ACOT7 ACSL1 ACSS1 ACSS2 ACYP2 ADH7 AKR1A1 AKR1C3 ALDH3B1 ALDH6A1 ALDH9A1 ALDOA ALDOB ALOX12 ALOX12B ALOX5 ALPI ALPP AMACR ANXA4 ANXA5 APRT ATRNL1 B3GALT6 B3GAT1 B4GALNT1 BST2 CA4 CALR CAT CD14 CD1D CD209 CD38 CD44 CD74 CDH13 CEACAM5 CEACAM6 CEACAM7 CEMIP CHI3L1 CHI3L2 CHPT1 CHSY1 CLEC1B CMAS COMT CRPPA CYP1A1 CYP1B1 CYP24A1 CYP27B1 CYP2R1 CYP3A5 DAG1 DCN DHCR24 DHDDS DLD DLST EBP ECHS1 EFNA1 ENO1 ENO2 ENPP2 ENPP3 FBP1 FCGR3B FH FPGT FUT11 FUT3 FUT4 G6PC1 G6PD GAD1 GAL3ST1 GALNT2 GALNT3 GAPDH GAS1 GGT1 GNE GNPTAB GOLPH3 GPC3 GPI GPNMB GPX1 GPX3 HAO2 HAS1 HK2 HMMR HPGDS HPSE HSD11B2 HSD17B6 ICAM1 IDH1 IDUA IL18R1 IMPA2 INPP4B KDSR KHK KL KLRC1 L1CAM L2HGDH LDHA LDHB LDHC LDHD LGALS1 LGALS3 LGALS8 LGALS9 LIPA LMAN2L LPCAT1 LY6G6D LYPD5 MAN1C1 MCAT MDH2 MGAT3 MGAT5 MGAT5B MICA MINPP1 MMUT MPPE1 MRC1 MTAP NAMPT NDST1 NEU1 NEU3 NT5E NUDT5 OGG1 OGT PAFAH1B1 PARP1 PDHB PDIA3 PGK1 PIK3CA PIK3CB PIK3CD PIK3CG PISD PKM PLA2G15 PLA2R1 PLAUR PLD1 PLD2 POGLUT3 PPAT PRKAA2 PRNP PRSS8 PSMD10 PTEN PTGS1 PTGS2 RGN SCD SDC1 SDC3 SDHA SDHB SDHC SDHD SELE SELP SIRT2 SIRT6 SLC2A2 SLC2A3 SLC2A4 SLC2A5 SLC35G2 SMUG1 SOAT1 SORD SPHK1 SPTLC1 ST3GAL2 ST3GAL4 ST8SIA4 STS SULF2 TIGAR TM7SF2 TMED3 TMED9 TUSC3 TYMP UGT1A1 VCAM1 VCAN VTCN1 XPNPEP2	10020 100507436 1012 10135 10327 10457 1048 10558 10682 10825 10855 1087 1116 11164 1117 11332 120227 126792 131 1312 142 143888 1462 146664 1543 1545 1577 1591 1594 1605 1634 1636 170384 1718 1738 1743 1890 1892 1942 197257 2023 2026 2180 2203 221 2215 223 226 2271 22856 229 22925 22933 23423 23583 23600 23659 23761 239 240 242 248 250 2525 2526 2531 2538 2539 2571 2583 2590 2591 2597 26033 2619 2678 27087 2719 27306 27349 2821 284348 2876 2878 2923 3036 307 308 30835 3099 31 3161 3291 3340 3383 34 3417 3425 353 3613 3795 38 3821 3897 39 3939 3945 3948 3956 3958 3964 3965 3988 412 4191 4248 4249 43 4329 4360 4507 4594 4680 47 4758 4907 4968 5048 51179 51266 51548 5162 5168 5169 5230 5290 5291 5293 5294 5315 5329 5337 5338 54658 5471 54732 5563 55902 55907 55959 5621 5652 56994 57103 57134 5716 57214 5728 5742 5743 58530 6319 6382 6389 6390 6391 6392 6401 6403 64083 6483 6484 6514 6515 6517 6518 65258 6646 6652 684 7108 729920 7412 7512 762 7903 79158 79679 79888 7991 79944 79947 80723 811 81562 84532 847 8473 8630 8644 8790 8809 8821 8877 9104 912 929 9365 9514 952 9562 960 9672 972 98	Homo sapiens (human)
DOID:0110425	dilated cardiomyopathy 1A Aliases: CDCD1 dilated cardiomyopathy with conduction defect 1 familial dilated cardiomyopathy with conduction defect due to LMNA mutation	ABO ACACA ACE ALDH7A1 ATP6AP2 BDH1 CAT CHI3L1 CPT1A CPT2 CYP11B2 CYP19A1 CYP1A2 CYP2E1 DAG1 DBT DOLK ECI1 ENO1 FASN FKRP FKTN FUT3 GBE1 GPX1 GPX3 HPRT1 HSD17B2 IDH1 IL18R1 IL1RL1 KL LGALS3 LY75 MBL2 MDH1 MGAM MGAT1 MMUT MPI MRC1 NAMPT NCAM1 PCCA PCCB PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G7 PLB1 PNPLA2 PRG2 PRKAA2 PTEN PTGS2 RENBP SCD SDC1 SDC4 SDHA SDHB SLC2A4 SLC35B2 SLC5A1 SMUG1 SRGN ST3GAL4 SULF2 SULT1E1 TM7SF2 UGT8 VTCN1	10135 10159 1116 1374 1376 151056 1544 1571 1585 1588 1605 1629 1632 1636 2023 2194 2218 22845 23583 2525 2632 28 2876 2878 31 3251 3294 3417 347734 3958 4065 4153 4190 4245 4351 4360 4594 4684 501 5095 5096 5236 5290 5291 5293 5294 5552 5553 5563 55959 57104 5728 5743 5973 622 6319 6382 6385 6389 6390 6484 6517 6523 6783 7108 7368 79147 7941 79679 847 8809 8972 9173 9365	Homo sapiens (human)
DOID:0060740	methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Aliases: methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency methylmalonic aciduria mut type vitamin B12-unresponsive methylmalonic aciduria	MAN2B1 MMUT	4125 4594	Homo sapiens (human)
DOID:0050628	advanced sleep phase syndrome Aliases: familial advanced sleep-phase syndrome	PER2	8864	Homo sapiens (human)
DOID:0090139	cortisone reductase deficiency Aliases: CORTRD	CYP2B6 H6PD HSD11B1	1555 3290 9563	Homo sapiens (human)
DOID:0110679	congenital myasthenic syndrome 4C Aliases: CMS Id CMS1D CMS4C FIM1 congenital myasthenic syndrome 4C associated with acetylcholine receptor deficiency congenital myasthenic syndrome type Id familial infantile myasthenia 1	GFPT1	2673	Homo sapiens (human)
DOID:5759	sebaceous gland neoplasm Aliases: Sebaceous neoplasm	MRC1	4360	Homo sapiens (human)
DOID:12129	bulimia nervosa Aliases: hyperorexia nervosa	ACACA AGPAT2 CALR CHODL COMT EFNA5 HGSNAT MAN1B1 SLC3A1 ST8SIA4	10555 11253 1312 138050 140578 1946 31 6519 7903 811	Homo sapiens (human)
DOID:0110404	retinitis pigmentosa 17 Aliases: RP17	CA4	762	Homo sapiens (human)
DOID:3947	adrenal gland hyperfunction Aliases: Adrenocortical hyperfunction hyperadrenalism hypercortisolism	ACAT1 ACE AKR1B1 APRT CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP3A4 CYP4F3 FASN FH HSD11B1 HSD11B2 HSD3B1 HSD3B2 SMUG1	1576 1584 1585 1586 1588 1636 2194 2271 231 23583 3283 3284 3290 3291 353 38 4051	Homo sapiens (human)
DOID:0080887	vitamin D-dependent rickets type 1B	CYP2R1	120227	Homo sapiens (human)
DOID:3016	breast malignant phyllodes tumor Aliases: Phyllodes breast neoplasm Phyllodes tumor, malignant breast malignant phyllodes tumour malignant Mammary Phyllodes tumor malignant Mammary Phyllodes tumour malignant Phyllodes neoplasm malignant cystosarcoma phyllodes malignant phyllodes tumor malignant phyllodes tumor of breast malignant phyllodes tumour malignant phyllodes tumour of breast phyllodes breast tumor phyllodes breast tumour	DCN FASN INPP4B PIK3CA PIK3CB PIK3CD PIK3CG SDHA SDHB VTCN1	1634 2194 5290 5291 5293 5294 6389 6390 79679 8821	Homo sapiens (human)
DOID:0060171	obsolete Dravet syndrome	ALDH7A1 EPM2A	501 7957	Homo sapiens (human)
DOID:13359	Ehlers-Danlos syndrome Aliases: Cutis hyperelastica elastic skin	ACAN ALPL ATP6V0A2 B3GALT4 B3GALT6 B4GALT7 BAAT CD38 CD44 CHST14 COL9A2 CYP21A2 CYP27B1 CYP2R1 DCN DSE ENPP1 FAM20B MTAP OCRL PAPSS2 PNPLA2 PTGS2 SMPD3 XYLT1	11285 113189 120227 126792 1298 1589 1594 1634 176 23545 249 29940 4507 4952 5167 55512 570 57104 5743 64131 8705 9060 952 960 9917	Homo sapiens (human)
DOID:12119	hemosiderosis Aliases: haemosiderosis	ACSM3	6296	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:1443	cerebral degeneration Aliases: Brain degeneration	ABO ACACA ACADVL ACAT1 ACE ACER3 ACHE ACO1 ACO2 ACOT7 ACOT8 ACSL6 ACSS2 ADH1B ADPRS AGA AGPS AGRN AKR1A1 AKR1C2 AKR1C4 ALDH2 ALDH7A1 ALG11 ALG13 ALG1 ALG3 ALOX12 ALOX5 ALPI ALPP ANXA5 APRT ARSA ASAH1 ATP6AP2 ATP6V1A ATRNL1 B3GALNT2 B3GALT4 B3GAT1 B3GLCT BCAN BST1 CALR CAT CD14 CD177 CD209 CD33 CD38 CD44 CD55 CD74 CDH13 CEACAM5 CEACAM6 CFC1 CH25H CHAT CHI3L1 CHIT1 CLC CLEC16A CLEC1B CLEC7A CLN5 CNTN1 CNTN2 COG1 COG4 COG5 COG6 COG7 COLGALT1 COLGALT2 COMT CPO CPT1A CRYL1 CS CSPG4 CTNS CYP11A1 CYP17A1 CYP19A1 CYP1A2 CYP27A1 CYP2B6 CYP2C9 CYP2J2 CYP3A4 CYP46A1 CYP7B1 CYP8B1 DCN DEGS1 DGKQ DHCR24 DHDDS DHRS11 DLD DLST DPEP2 DSE EDEM2 EFNA5 ENO1 ENO2 ENPP2 EPHX2 EPM2A EXT1 EXT2 FASN FBXO2 FCGR3B FCN2 FDPS FH FOLR2 FUCA1 G6PD GAD1 GAD2 GALNS GAPDH GAPDHS GBA1 GBA2 GFRA1 GGT1 GLB1 GLO1 GLUL GM2A GNE GNPAT GNPDA2 GOLPH3 GPAA1 GPC1 GPC6 GPI GPNMB GPX1 GTDC1 GUSB HAS1 HAS3 HK1 HMGCS2 HPGDS HPSE2 HPSE HS3ST1 HSD11B1 HSD17B1 HSD17B4 HSD17B6 HSD17B7 HSPG2 HYI ICAM1 IDH1 IDH2 IGF2R IL1R1 IL1RAP IL1RL1 IMPA1 INPP5D INPP5K INPPL1 ITPKB KL KLRC1 L1CAM LCAT LCT LDHA LGALS3 LGALS4 LGALS9 LIPA LIPC LIPG LMAN2L LPL LTC4S LYZ LYZL4 MAG MAN1B1 MAN2B1 MASP1 MBL2 MBOAT7 MDH2 MELTF MGAT3 MGLL MICA MMUT MOGAT3 MOGS MPDU1 MPG MPI MRC1 NAAA NAGA NAMPT NANP NANS NCAM1 NDST1 NEU1 NGLY1 NPL NT5E OGA OGDH OGDHL OGG1 OGT OLR1 PAFAH1B2 PARP1 PC PCCA PCCB PCK1 PCYT1A PCYT1B PCYT2 PDHA1 PEMT PFKFB3 PGAP1 PGD PGP PI4KA PIGC PIGG PIGL PIGN PIGT PIGU PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PIKFYVE PKM PLA2G15 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLA2G7 PLAUR PLB1 PLCB1 PLCG2 PLD1 PLD2 PLD3 PLPP4 PMM2 PNP PNPLA2 PNPLA7 PPT1 PRG2 PRKAA2 PRNP PTDSS1 PTEN PTGDS PTGES2 PTGES3 PTGES PTGS1 PTGS2 RENBP RGN RTN4R SCD5 SCD SCP2 SDC2 SDC3 SDCBP2 SFTPA1 SFTPC SGMS2 SGSH SI SIGLEC7 SIRT2 SIRT6 SLC17A5 SLC2A3 SLC2A4 SLC33A1 SLC35A1 SLC35A2 SMPD2 SMPD3 SMUG1 SOAT1 SPHK1 SPHK2 SQLE ST3GAL3 ST3GAL4 ST6GAL1 ST8SIA1 STS SUCLA2 SUCLG1 SUCLG2 SUMF1 SYNJ1 TECR TIGAR TKT TM7SF2 TMED9 TPI1 TUSC3 UGCG UGT1A1 UMOD UNG VCAM1 VCAN	10005 10020 100507436 10082 1012 10135 10159 10195 10327 10400 10457 10466 1048 10559 10724 10728 10855 10858 1103 1109 1116 1118 11253 11332 11343 1178 1203 125 1272 128869 130749 1312 131375 132789 1374 140838 142 1431 145173 1462 1464 148789 1497 151056 1544 1555 1559 1573 1576 1582 1583 1586 1588 1593 1604 1609 1634 1636 1646 166929 1718 1738 1743 175 1946 196051 200576 2023 2026 2053 2131 2132 217 2194 2215 2220 2224 2271 22933 23127 23236 23274 23305 2350 23556 23583 23646 23659 239 240 248 250 2517 2539 2571 2572 25839 2588 2597 26033 26232 2629 26330 26503 2674 2678 27036 27087 27111 27163 2720 27306 2739 2752 2760 28 2817 2821 283871 285362 2876 2990 29940 3036 3038 308 30835 3098 31 3158 3290 3292 3295 3339 3340 3383 3417 3418 346606 3482 353 3554 3556 3612 3635 3636 37 3707 375775 375790 38 3821 3897 3931 3938 3939 3958 3960 3965 3988 3990 4023 4056 4069 4099 410 412 4125 4153 4191 4241 4248 427 43 4350 4351 4360 440138 4594 4668 4680 4684 4758 48 4860 4907 4967 4968 4973 50 501 5049 5091 5095 5096 5105 51084 51266 5130 51478 51548 5160 51604 5168 51763 5209 5226 523 5279 5289 5290 5291 5293 5294 5297 5315 5319 5320 5321 5329 5336 5337 5338 5373 54187 54658 54732 54872 54936 55331 5538 55512 5553 5563 55741 55753 55768 55902 55997 56052 5621 5648 56848 57103 57104 57126 5728 5730 5742 5743 57511 57704 5833 5973 60495 6319 6342 63827 6383 64083 64174 6440 6448 64581 6476 6480 6484 6487 6489 65078 6515 6517 653509 6610 6646 6713 683 6900 7086 7108 7167 7355 7357 7369 7374 7412 7841 79143 79154 7941 7957 79709 79712 79868 7991 79947 79966 80055 80142 80896 811 81562 81888 8398 8443 847 8473 8540 8560 8630 8705 8733 8801 8802 8803 8867 8877 9023 9104 9173 91949 9197 929 9365 9382 9388 9420 945 9468 9487 952 9524 9526 9536 960 9672 972 9791 9957	Homo sapiens (human)
DOID:6039	uveal melanoma Aliases: melanoma of Uvea	ALPI ALPP B3GAT1 CACNA2D1 CD44 HK2 HSPG2 ICAM1 IDH1 LIPG MBD4 MICA PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PLCB4 PTEN SDHD SULF2 TNFRSF10C TPI1	100507436 142 248 250 27087 3099 3339 3383 3417 5290 5291 5293 5294 5332 55959 5728 6392 7167 781 8794 8930 9388 960	Homo sapiens (human)
DOID:2951	motion sickness Aliases: Travel Sickness	GPD2	2820	Homo sapiens (human)
DOID:718	autoimmune hemolytic anemia Aliases: Autoimmune haemolytic anaemia autoimmune hemolytic anaemia	ABO ANXA5 B3GAT1 CD48 CD55 FCGR3B HMMR LYPLA1 MBL2 OCRL PNP	10434 1604 2215 27087 28 308 3161 4153 4860 4952 962	Homo sapiens (human)
DOID:13911	achromatopsia Aliases: ACHM Monochromatism	ACO2 CA4 CACNA2D4 ELOVL4 G6PD HS6ST1 MBD4 NYX PCYT1A SDHC STS	2539 412 50 5130 60506 6391 6785 762 8930 93589 9394	Homo sapiens (human)

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