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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 **3701 - 3725** of **4621** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism
DOID:1909	melanoma Aliases: Naevocarcinoma malignant melanoma	ACE ACER3 ACHE ACO1 ACSL3 AKR1B10 ALDH1A3 ALDH3A1 ALDH7A1 ALOX12 ALOX5 ALPI ALPP AMACR ANXA5 ANXA7 ANXA9 APRT ARSB ART3 ASAH1 B3GAT1 B4GALNT1 BRAF BST2 CALR CANX CAT CD14 CD1D CD22 CD248 CD38 CD44 CD74 CDH13 CEACAM5 CEACAM7 CERS2 CERS6 CH25H CHI3L1 CLEC10A CLEC14A CLEC1B CMAS CPT1A CPT1C CRYBG1 CSGALNACT1 CSPG4 CYP19A1 CYP1B1 CYP21A2 CYP24A1 CYP27B1 CYP2B6 CYP2E1 CYP2R1 DBT DERA DGKA DGKI DHCR24 EBP ECHDC1 EDEM1 EFNA1 ELOVL2 ENO2 ENPP1 FASN FCGR3B FDFT1 FDPS FOLR2 FUT1 FUT2 FUT4 FUT8 G6PD GALC GALNT14 GALNT3 GAPDH GAPDHS GAS1 GBE1 GCNT2 GCNT3 GFRA1 GGT1 GLB1 GLO1 GLT8D1 GNS GOLPH3 GPAM GPAT2 GPC3 GPC6 GPLD1 GPNMB GPX1 GPX3 HADHB HAS2 HAS3 HK1 HMGCL HPGDS HPRT1 HPSE HS2ST1 HS3ST5 HSD11B1 HSD11B2 HSD17B12 HSPG2 HYAL2 ICAM1 IDH1 IDH2 IDUA IGF2R IL18R1 IL1RAPL1 INPP4B INPP5D INPP5E INPP5K ISYNA1 KL KLRB1 KLRC1 KLRK1 L1CAM LDHA LGALS1 LGALS3 LGALS9 LIPA LTA4H LYPD5 LYPLA1 LYPLA2 MAG MCAT MDH2 MELTF MGAT5 MGLL MICA MMP25 MOGS MPG MPPE1 MRC1 MTAP MUTYH NAMPT NCAM1 NEU1 NGLY1 NT5E OGG1 OS9 PARP1 PC PCK2 PCYT1A PDHB PDIA3 PFKFB2 PFKFB3 PFKFB4 PGK1 PIGU PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2A PKD1 PKM PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLAUR PLCB2 PLCB4 PLD1 PNP PNPLA2 PPARGC1A PPP1R3B PRKAA2 PRNP PSMD10 PTEN PTGDS PTGES PTGS1 PTGS2 PYGM RECK RPE RTN4R SCD5 SCD SDC1 SDC2 SDC4 SDHA SDHB SDHC SDHD SELE SELL SEMA7A SGMS1 SIGLEC1 SIGLEC7 SIGLEC9 SIRT2 SIRT6 SLC17A5 SLC2A2 SLC2A3 SLC33A1 SMPD1 SMUG1 SOAT1 SPAM1 ST3GAL4 ST6GALNAC2 ST8SIA1 STS SULF1 TKTL1 TLR4 TMED5 TNFRSF10C TP53 TPI1 UGT8 VCAM1 VCAN VTCN1	100507436 10082 1012 10135 10434 10457 10462 1048 10610 10682 10855 1087 10891 10956 11141 1116 11313 11343 120227 126129 128869 1374 142 1462 1464 150763 1545 1555 1571 1588 1589 1591 1594 1606 161198 1629 1636 1718 1942 202 2026 218 2181 2194 220 2215 2222 2224 222537 22914 22933 23213 2350 23583 23600 239 240 248 250 2523 2524 2526 2530 253782 2539 2581 2583 2591 259230 2597 2619 2632 26330 26503 2651 2674 2678 27036 27087 27180 2719 2720 27306 27349 2739 2799 2822 284348 2876 2878 2923 29956 3032 3037 3038 308 3098 310 3155 3251 3290 3291 3339 3383 3417 3418 3425 3482 353 3635 3820 3821 3897 3939 3956 3958 3965 3988 4048 4099 411 412 419 4191 4241 4249 427 43 4350 4360 4507 4595 4684 4758 48 4860 4907 4968 501 5091 50999 5106 51071 51144 51266 5130 51477 51548 5162 5167 51763 5208 5209 5210 5230 5289 5290 5291 5293 5294 5305 5310 5315 5319 5320 5321 5329 5330 5332 5337 54898 55331 5563 55768 55790 55830 55862 55907 5621 56623 57016 57104 57124 5716 5728 5730 5742 5743 57678 5837 6120 6319 6382 6383 6385 6389 6390 6391 6392 6401 6402 64083 64386 6484 6489 65078 6514 6515 65258 6609 6614 6646 6677 673 684 7099 7157 7167 7368 7412 7841 79623 79660 79679 79966 811 821 8277 8398 8416 8434 847 8482 8692 8794 8809 8821 9023 912 9162 9197 9245 929 933 9365 952 9536 960 9653 9695 972	Homo sapiens (human)
DOID:12859	choreatic disease Aliases: chorea hereditary chorea	ACAT2 ALG13 ARSA B3GALNT2 CACNA2D2 GM2A LMAN2L MAN1B1 MBOAT7 MECR MYORG NDST1 NGLY1 PGAP1 PIGC PLA2G6 PRNP PSAP SMUG1 ST3GAL3 TECR TUSC3	11253 148789 23583 2760 3340 39 410 51102 5279 55768 5621 5660 57462 6487 79143 79868 7991 80055 81562 8398 9254 9524	Homo sapiens (human)
DOID:11755	choledocholithiasis	ACAT2 ACSS2 ALDOA BPGM CAT COMT CYP17A1 CYP27A1 CYP7A1 CYP8B1 DPEP1 G6PD GNE GPX1 GPX3 GUSB HK1 MICA OGG1 PFKM PKLR PLA2G10 PLA2G15 PLA2G2A PNPLA3 PTGS2 SLC35A2 SMPD1 SMUG1 ST8SIA4 SULT1E1 TPI1 UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9	10020 100507436 1312 1581 1582 1586 1593 1800 226 23583 23659 2539 2876 2878 2990 3098 39 4968 5213 5313 5320 54575 54576 54577 54578 54579 54600 54657 54658 54659 55902 56886 5743 6609 669 6783 7167 7355 7903 80339 8399 847	Homo sapiens (human)
DOID:10211	cholelithiasis	ACAT2 ACSS2 ALDOA BPGM CAT COMT CYP17A1 CYP27A1 CYP7A1 CYP8B1 DPEP1 G6PD GNE GPX1 GPX3 GUSB HK1 MICA OGG1 PFKM PKLR PLA2G10 PLA2G15 PLA2G2A PNPLA3 PTGS2 SLC35A2 SMPD1 SMUG1 ST8SIA4 SULT1E1 TPI1 UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9	10020 100507436 1312 1581 1582 1586 1593 1800 226 23583 23659 2539 2876 2878 2990 3098 39 4968 5213 5313 5320 54575 54576 54577 54578 54579 54600 54657 54658 54659 55902 56886 5743 6609 669 6783 7167 7355 7903 80339 8399 847	Homo sapiens (human)
DOID:11151	cholecystolithiasis	ACAT2 ACSS2 ALDOA BPGM CAT COMT CYP17A1 CYP27A1 CYP7A1 CYP8B1 DPEP1 G6PD GNE GPX1 GPX3 GUSB HK1 MICA OGG1 PFKM PKLR PLA2G10 PLA2G15 PLA2G2A PNPLA3 PTGS2 SLC35A2 SMPD1 SMUG1 ST8SIA4 SULT1E1 TPI1 UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9	10020 100507436 1312 1581 1582 1586 1593 1800 226 23583 23659 2539 2876 2878 2990 3098 39 4968 5213 5313 5320 54575 54576 54577 54578 54579 54600 54657 54658 54659 55902 56886 5743 6609 669 6783 7167 7355 7903 80339 8399 847	Homo sapiens (human)
DOID:10787	premature menopause Aliases: Menopause - premature Menopause praecox	ACAT2 ACSL6 B4GALNT1 BCKDHB CD38 COMT CTNS CYP19A1 CYP2B6 CYP2C19 CYP2R1 CYP7A1 CYP8B1 DGAT2 G6PC3 GALT HACD1 HSD17B3 HSD17B4 IGF2R KL LGALS1 PARP1 PGD PIK3CA PIK3CB PIK3CD PIK3CG PLA2G4A PMM2 PTEN XPNPEP2	120227 1312 142 1497 1555 1557 1581 1582 1588 23305 2583 2592 3293 3295 3482 39 3956 5226 5290 5291 5293 5294 5321 5373 5728 594 7512 84649 9200 92579 9365 952	Homo sapiens (human)
DOID:4674	androgen insensitivity syndrome Aliases: Androgen resistance syndrome Androgen-Insensitivity Syndrome Feminisation - testicular Goldberg - Maxwell syndrome Goldberg-Maxwell syndrome testicular Feminization syndrome testicular feminization	ACAT2 ACSL6 AKR1C3 B4GALNT1 BCKDHB CD38 CDH13 CHI3L1 CLEC1B COMT CTNS CYP19A1 CYP2B6 CYP2C19 CYP2R1 CYP7A1 CYP8B1 DGAT2 G6PC3 GAD1 GALT GPX3 HACD1 HJV HSD17B3 HSD17B4 HSD17B7 IGF2R KL LGALS1 LGALS3 PARP1 PGD PIK3CA PIK3CB PIK3CD PIK3CG PLA2G4A PMM2 PTEN SLC39A8 SMUG1 SRD5A2 STS SULT1E1 XPNPEP2	1012 1116 120227 1312 142 148738 1497 1555 1557 1581 1582 1588 23305 23583 2571 2583 2592 2878 3293 3295 3482 39 3956 3958 412 51266 51478 5226 5290 5291 5293 5294 5321 5373 5728 594 64116 6716 6783 7512 84649 8644 9200 92579 9365 952	Homo sapiens (human)
DOID:332	amyotrophic lateral sclerosis Aliases: ALS Lou Gehrig's disease motor neuron disease, bulbar	ACAT2 ACE ACHE ADH5 ALOX15 ALOX5 ALPP APRT ATRNL1 CALR CAT CBR1 CD14 CEACAM6 CHGA CHI3L1 CHI3L2 CHIT1 CHST2 CLEC10A CNTFR CS CTBS CYP19A1 CYP1A1 CYP1A2 CYP27A1 DGAT1 DHDDS DLD EFNA5 FCGR3B FCN3 FIG4 GAL3ST1 GAPDH GBA1 GFRA1 GLCE GLT8D1 GLUL GOT1 GPNMB GPX3 GPX7 GSK3A GSK3B HADHA HEXA HK1 HPGDS IGF2R IL18R1 INPP5B KL LGALS1 LGALS2 LGALS3 LGALS4 MDH1 MGAM MGLL MRC1 NAMPT NCAM1 NGLY1 OGA PARP1 PCYT1B PDIA3 PGK1 PIGL PLA2G4A PLCB1 PLCD1 PNPLA6 PPARGC1A PRNP PSAP PTEN PTGES PTGS2 SARM1 SCD SI SIGLEC7 SIRT2 SIRT6 SLC33A1 SLC35A1 SMUG1 SOAT1 ST3GAL3 SULT1E1 SYNJ1 SYNJ2 THEM4 TMED9 TNKS UGCG	10135 10457 10462 10559 10724 10891 10908 1113 1116 1117 1118 11343 117145 1271 128 142 1431 1486 1543 1544 1588 1593 1636 1738 1946 2215 22933 23098 23236 23583 240 246 250 2597 26033 26035 2629 2674 27036 27306 2752 2805 2878 2882 2923 2931 2932 3030 3073 3098 3482 353 3633 39 3956 3957 3958 3960 4190 43 4360 4680 4684 51548 5230 5321 5333 54732 55768 55830 5621 5660 5728 5743 6319 6476 6487 6646 6783 7357 79947 811 847 8547 8658 8694 873 8809 8867 8871 8972 9197 929 9365 9435 9468 9487 9514 9536 9896	Homo sapiens (human)
DOID:318	progressive muscular atrophy Aliases: Pure progressive muscular atrophy progressive spinal muscular atrophy	ACAT2 ACE ACHE ADH5 ALOX15 ALOX5 ALPI ALPP APRT ARSF ASAH1 ATRNL1 CALR CANX CAT CBR1 CD14 CEACAM6 CHGA CHI3L1 CHI3L2 CHIT1 CHODL CHST2 CLEC10A CNTFR CNTN1 CS CTBS CYP19A1 CYP1A1 CYP1A2 CYP27A1 DGAT1 DHDDS DLD EFNA5 FCGR3B FCN2 FCN3 FIG4 FUT1 GAL3ST1 GAPDH GBA1 GFRA1 GLCE GLT8D1 GLUL GM2A GPNMB GPX3 GPX7 HADHA HEXA HK1 HPGDS HSPG2 IGF2R IL18R1 INPP5B KDSR KL LGALS1 LGALS2 LGALS3 LGALS4 MDH1 MGAM MGLL MRC1 NAMPT NCAM1 NGLY1 OGA PARP1 PCYT1B PDIA3 PGK1 PIGL PLA2G4A PLCB1 PLCD1 PNPLA6 PRNP PSAP PTEN PTGES PTGS2 SARM1 SCD SI SIGLEC7 SIRT2 SIRT6 SLC33A1 SLC35A1 SMUG1 SOAT1 ST3GAL3 SULT1E1 SYNJ1 SYNJ2 THEM4 TMED9 TNKS UGCG	10135 10457 10462 10559 10724 10908 1113 1116 1117 1118 11343 117145 1271 1272 128 140578 142 1431 1486 1543 1544 1588 1593 1636 1738 1946 2215 2220 22933 23098 23236 23583 240 246 248 250 2523 2531 2597 26033 26035 2629 2674 27036 27306 2752 2760 2878 2882 2923 3030 3073 3098 3339 3482 353 3633 39 3956 3957 3958 3960 416 4190 427 43 4360 4680 4684 51548 5230 5321 5333 54732 55768 55830 5621 5660 5728 5743 6319 6476 6487 6646 6783 7357 79947 811 821 847 8547 8658 8694 873 8809 8867 8871 8972 9197 929 9365 9435 9468 9487 9514 9536 9896	Homo sapiens (human)
DOID:0090142	cystathioninuria Aliases: cystathionase deficiency cystathione gamma-lyase deficiency syndrome gamma-cystathionase deficiency	ACAT1	38	Homo sapiens (human)
DOID:2978	carbohydrate metabolic disorder Aliases: disorder of carbohydrate transport and metabolism inborn carbohydrate metabolism disorder inborn errors of carbohydrate metabolism	ACAT1 MPI OXCT1 SLC2A1 TALDO1 TPI1	38 4351 5019 6513 6888 7167	Homo sapiens (human)
DOID:0050726	tyrosinemia type I Aliases: hepatorenal tyrosinemia	ACAT1 IDUA OGG1	3425 38 4968	Homo sapiens (human)
DOID:9275	tyrosinemia	ACAT1 IDUA OGG1	3425 38 4968	Homo sapiens (human)
DOID:363	uterine cancer Aliases: CA - cancer of uterus Tumour of uterus malignant neoplasm of uterus malignant uterine tumor neoplasm of uterus uterine tumor uterus neoplasm	ACAT1 FOLR1 L1CAM MBL2 MDH2 PIK3CA PIK3CB PIK3CD PIK3CG PTEN	2348 38 3897 4153 4191 5290 5291 5293 5294 5728	Homo sapiens (human)
DOID:2228	thrombocytosis Aliases: Thrombocythaemia	ACAT1 CALR CD177 HMGCL NAAA PMM2	27163 3155 38 5373 57126 811	Homo sapiens (human)
DOID:11339	pneumocystosis Aliases: Pneumocystis carinii pneumonia Pneumocystis jirovecii pneumonia Pneumocystis pneumonia Pneumocystosis pneumonia pulmonary pneumocystosis	ACAT1 ATP6AP2 CEL CLEC6A CLEC7A ENPP1 G6PD GAD1 GPX1 MRC1 PARP9 SFTPA1 SFTPA2 SFTPD SLC27A5 STS UAP1 XYLT2	10159 1056 10998 2539 2571 2876 38 412 4360 5167 64132 6441 64581 653509 6675 729238 83666 93978	Homo sapiens (human)
DOID:5566	mature teratoma	ACAT1 ALPP DHCR24 FMOD FUT1 GFRA1 ME1 MRC1 PGM1 PSMD10 PTEN	1718 2331 250 2523 2674 38 4199 4360 5236 5716 5728	Homo sapiens (human)
DOID:5563	malignant teratoma Aliases: Immature teratoma Teratoma, malignant, NOS malignant Extragonadal teratoma primary malignant extragonadal teratoma	ACAT1 ALPP DHCR24 ENO2 FMOD FUT1 GFRA1 ME1 MRC1 PGM1 PSMD10 PTEN SMUG1	1718 2026 2331 23583 250 2523 2674 38 4199 4360 5236 5716 5728	Homo sapiens (human)
DOID:3307	teratoma	ACAT1 ALPP DHCR24 ENO2 FMOD FUT1 GFRA1 ME1 MRC1 PGM1 PGM3 PSMD10 PTEN SMUG1 TYMP	1718 1890 2026 2331 23583 250 2523 2674 38 4199 4360 5236 5238 5716 5728	Homo sapiens (human)
DOID:3345	xanthomatosis Aliases: xanthelasmatosis	ACAT1 ALOX5 CEACAM5 CYP27A1 EPHX2 G6PC1 GPC1 PTGS1 SLC37A4 SMPD1 SOAT1	1048 1593 2053 240 2538 2542 2817 38 5742 6609 6646	Homo sapiens (human)
DOID:1920	hyperuricemia Aliases: Blood urate raized uricacidemia	ACAT1 ALDH2 ALDOB CAT DPEP1 FBP1 G6PC1 HAS2 HMGCL HPRT1 INS KHK PC PFKM PLA2G7 PNP PRPS1 SLC37A4 UMOD	1800 217 2203 229 2538 2542 3037 3155 3251 3630 3795 38 4860 5091 5213 5631 7369 7941 847	Homo sapiens (human)
DOID:0060823	syndromic X-linked intellectual disability 94 Aliases: MRX94 MRXS29 mental retardation, X-linked 94 syndromic X-linked intellectual disability due to GRIA3 anomalies syndromic X-linked mental retardation 29 syndromic X-linked mental retardation Wu type	ACAT1 ACO2 ACOX1 ACSL4 ALDH5A1 ALG13 ALG14 ARSD B3GALNT2 COG5 CYB5R3 DAG1 DBT DGKK DPAGT1 ECHS1 FKRP FKTN FUCA1 GCK GMPPB HMGCL IL1RAPL1 IMPA1 L1CAM L2HGDH LARGE1 LMAN2L MAN1B1 MBOAT7 MGAT2 MRC1 NAGA NAGLU NANS NDST1 PDHA1 PGAP1 PGAP2 PGAP3 PIGC PIGL PIGO PIGV PIGW PIGY POMGNT1 POMT1 POMT2 PPT1 RFT1 SDHA SLC35A2 SLC35A3 SMC3 SRD5A3 ST3GAL3 ST3GAL5 SUCLG1 TECR TUSC3	10466 10585 11141 11253 139189 148789 1605 1629 1727 1798 1892 199857 2182 2218 23443 2517 2645 27315 284098 29925 29954 3155 3340 3612 38 3897 414 4247 4360 4668 4669 50 51 5160 5279 54187 5538 55624 55650 6389 6487 7355 79143 79147 7915 79644 79868 7991 79944 80055 81562 84720 84992 8802 8869 9126 91869 9215 93210 9487 9524	Homo sapiens (human)
DOID:10371	yaws Aliases: Bouba frambesia frambesia tropica frambosie polypapilloma tropicum thymosis	ACAT1 ACHE FUT4 ICAM1 LGALS3 SELE	2526 3383 38 3958 43 6401	Homo sapiens (human)
DOID:13819	lymphogranuloma venereum Aliases: Climatic or tropical bubo Durand-Nicolas-Favre disease Lymphogranuloma inguinale Poradenitis inguinale Strumous bubo	ACAT1 ACHE FUT4 ICAM1 LGALS3 SELE	2526 3383 38 3958 43 6401	Homo sapiens (human)
DOID:13778	chancroid Aliases: Ulcus molle, skin	ACAT1 ACHE FUT4 ICAM1 LGALS3 SELE	2526 3383 38 3958 43 6401	Homo sapiens (human)

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