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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 **1876 - 1900** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:1037	lymphoid leukemia Aliases: lymphoblastic leukaemia lymphoblastic leukemia lymphocytic leukaemia	AKR1B1 B3GAT1 CD22 CD33 CD38 CD44 CDH13 CEACAM5 CYP3A5 DLD EBP FCER2 FDPS GML HPGDS HPSE ICAM1 IDH1 IDH2 IL18R1 KLRK1 LARGE1 MACROD1 MTAP NCAM1 PCYT1A PGP PIK3C2A PIK3CA PIK3CB PIK3CD PIK3CG PLD2 PPP1R3A PTEN PTGS2 SIGLEC7 SMC3 SMPD3 VCAM1	1012 1048 10682 10855 1577 1738 2208 2224 22914 231 27036 27087 27306 2765 283871 28992 3383 3417 3418 4507 4684 5130 5286 5290 5291 5293 5294 5338 5506 55512 5728 5743 7412 8809 9126 9215 933 945 952 960	Homo sapiens (human)
DOID:613	obsolete T lymphocyte deficiency	PNP SFTPA1	4860 653509	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:1520	colon carcinoma Aliases: Colonic carcinoma carcinoma of colon	ACACA ACAT1 ACE ACLY ACSBG1 ACSL1 ACSL4 ACSS2 ADH1B ADH1C AGL AKR1B10 AKR1B1 ALDH1A3 ALDH1B1 ALDH2 ALDH3A1 ALDH7A1 ALOX15 ALOX5 ALPP AMACR ANXA5 APRT ARSA ART1 ASAH1 ATRNL1 B3GALT5 B3GNT6 B3GNT7 B3GNT8 B3GNTL1 B4GALNT3 BAAT BPHL BRAF C1GALT1 CA4 CALR CAT CBR1 CD248 CD44 CDH13 CEACAM5 CEACAM6 CEACAM7 CEMIP CHAT CHGA CHI3L1 CHKA CHPT1 CHST4 COMT CSGALNACT1 CTBS CYB5R1 CYP19A1 CYP1A1 CYP1A2 CYP24A1 CYP27B1 CYP2E1 CYP2R1 CYP3A4 CYP4F3 CYP7A1 CYP7B1 DAG1 DCN DGKB DGKE DGKZ DHCR24 DHCR7 DHDDS DLD DPEP1 EBP EFNA1 ENO1 ENPP3 ENPP7 FADS1 FASN FBP1 FH FMOD FOLR1 FUT1 FUT2 FUT3 FUT4 FUT6 FUT7 G6PD GALNT4 GALNT6 GAPDH GCNT2 GCNT3 GLB1 GLO1 GLTP GMDS GOLPH3 GPC1 GPI GPLD1 GPX1 GPX2 GPX3 GUSB HAS3 HEXB HK2 HMGCS1 HMGCS2 HMMR HPGDS HPRT1 HPSE HSD11B2 HSD17B4 HSD17B7 HSPG2 HYAL2 ICAM1 IDH1 IDUA IGF2R IL1R1 IMPA1 INPP4B INPP5D INPPL1 ISYNA1 KL KLRK1 L1CAM LDHA LDHB LGALS12 LGALS1 LGALS3 LGALS4 LGALS9 LIPC LPIN1 LYNX1 LYPD5 MACROD2 MBD4 MBL2 ME1 MGLL MICA MMP25 MMUT MRC1 MTAP MTM1 MTMR3 MUTYH NAMPT NEU3 NTNG1 OGA OGG1 OLR1 PARG PARP1 PCYT1A PCYT1B PFKFB3 PGK1 PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PIP5K1A PKM PLA2G10 PLA2G15 PLA2G1B PLA2G2A PLA2G2D PLA2G3 PLA2G4A PLA2G7 PLAUR PLB1 PLCG1 PLD2 PLD4 PLEKHA8 PNP PNPLA2 POGLUT1 PRKAA2 PSMD10 PTEN PTGDS PTGES PTGIS PTGS1 PTGS2 RECK REG1B RENBP RGN RPIA RPN2 SCD SDC1 SDC2 SDC4 SELE SELL SELP SGMS2 SGPL1 SHMT1 SHMT2 SIGLEC7 SIRT2 SIRT6 SLC17A5 SLC26A2 SLC2A2 SLC2A3 SLC2A4 SLC2A5 SLC35A2 SLC3A1 SMC3 SMPD1 SMUG1 SOAT1 SPHK1 SPHK2 SRGN ST3GAL4 ST6GAL1 ST6GALNAC1 STT3A SULT1E1 SYNJ2 TDG TKT TKTL1 TKTL2 TM7SF2 TMED3 TMED9 TNKS TUSC3 TYMP UGT1A1 UGT1A6 UGT1A7 UGT1A9 UGT2B17 ULBP2 UNG VCAM1 VCAN VNN1	100507436 1012 10135 10164 10317 1048 10682 10724 10825 10855 1087 1103 1113 1116 1119 11226 11343 120227 122618 125 126 1312 140733 142 1462 146712 1486 151056 1543 1544 1571 1576 1581 1588 1591 1594 1605 1607 1634 1636 166929 1717 1718 1738 178 1800 1836 1890 192134 1942 2023 217 218 2180 2182 219 2194 220 2203 2271 22854 22914 22933 22934 231 23175 23205 2331 23423 2348 23583 23600 23659 240 246 250 2523 2524 2525 2526 2528 2529 2539 2597 26033 26279 26503 2651 27036 2720 27306 2739 2762 2817 2821 2822 283358 284348 2876 2877 2878 2990 3038 3074 308 3099 31 3157 3158 3161 3251 3291 3295 3339 3383 339221 3417 3425 3482 353 3554 3612 3635 3636 3703 374907 38 3897 3939 3945 3956 3958 3960 3965 3990 3992 4051 410 4153 417 4199 427 4360 4507 4534 4594 4595 4680 47 4860 4968 4973 501 50487 51228 5130 51477 51478 51548 5169 51706 5209 5230 5289 5290 5291 5293 5294 5315 5319 5320 5321 5329 5335 5338 54577 54578 54600 54658 54732 5552 5563 55790 55808 55902 56848 56913 56983 56994 570 57016 57104 57124 5716 57214 5728 5730 5740 5742 5743 5968 5973 6185 6319 6382 6383 6385 6401 6402 6403 64083 64386 6470 6472 6480 6484 6514 6515 6517 6518 6519 66004 6609 6646 670 673 6783 6996 7086 7108 7355 7367 7374 7412 762 7941 7991 79947 80328 811 8277 8394 8399 84076 8434 847 84725 8505 8525 8526 85329 8658 8692 8693 873 8821 8871 8876 8877 8879 8897 8930 9104 9126 9245 93010 9365 9420 9468 9536 960	Homo sapiens (human)
DOID:11054	urinary bladder cancer Aliases: bladder cancer tumor of the bladder	ABO ACHE ACSS1 ACSS2 ADH1B ADH1C AGL AGPAT4 AKR1A1 AKR1B10 AKR1C1 AKR1C2 AKR1C3 AKR1C4 AKT1 ALDH2 ALOX12 ALOX15 ALOX5 ALPI ALPP AMACR ANXA5 APEX1 APRT B4GALT1 B4GALT3 BCAN BST2 CALR CAT CD14 CD44 CD74 CDH13 CEACAM5 CEACAM7 CERS2 CHGA CHPT1 CNTN2 COMT CPT1B CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP27A1 CYP27B1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP3A4 CYP3A5 DCN DHCR24 DHDDS EBP ECHDC1 EFNA1 ENO1 ENO2 ENPP2 FASN FH FUT4 G6PD GAPDH GAS1 GLB1 GLO1 GOLPH3 GPAA1 GPNMB GPX1 GPX2 GUSB HAS1 HAS2 HK1 HMMR HPGDS HPSE2 HPSE HS3ST3B1 HSD3B1 HSD3B2 HYAL1 ICAM1 IGF2R IL18R1 INPP4A INPP4B INPP5K ISYNA1 KL KLRB1 LDHA LDHB LGALS1 LGALS3 LGALS4 LY6K MAN1B1 MBD4 MCAT MGAT5 MRC1 MUTYH NAAA NAMPT NCAN NT5E NTHL1 OGG1 OPCML PARP1 PCYT1A PEMT PFKFB3 PFKFB4 PGAM1 PGM5 PIGU PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PKD2 PKM PLAUR PLCE1 PNP PNPLA2 PRKAA2 PRSS8 PTEN PTGIS PTGS1 PTGS2 RECK RENBP SCD SDC1 SDHB SELL SHMT1 SIGLEC1 SIRT2 SIRT6 SLC2A3 SLC35A2 SMPD1 SMPDL3A SMUG1 SOAT1 SORD SPAM1 SPHK1 ST3GAL1 ST6GAL1 ST6GALNAC1 STS TBXAS1 TFF1 TLR2 TM7SF2 TNFRSF10C TNKS TP53 TYMP UGT1A10 UGT1A1 UGT1A6 UGT1A7 UGT1A8 UGT1A9 UGT2B7 UMOD UMPS VCAN VTCN1 XYLT2	1012 10135 10327 10400 10457 1048 10682 10855 1087 10924 1109 1113 11253 125 126 128869 1312 1375 142 1462 1463 1543 1544 1545 1555 1557 1559 1571 1576 1577 1588 1593 1594 1634 1645 1646 1718 178 1890 1942 2023 2026 207 217 2194 2271 22933 23583 23600 239 240 246 248 250 2526 2539 2597 2619 2683 27163 2720 27306 27349 2739 28 2876 2877 2990 29956 3036 3037 308 3098 3161 328 3283 3284 3373 3383 3482 353 3631 3820 3939 3945 3956 3958 3960 412 4249 43 4360 4595 4860 4907 4913 4968 4978 51196 5130 51477 51548 5168 51763 5209 5210 5223 5239 5289 5290 5291 5293 5294 5311 5315 5329 54575 54576 54577 54578 54600 54658 54742 5563 55808 55862 55902 5652 56895 56994 57016 57104 5728 5740 5742 5743 5973 60495 6319 6382 63827 6390 6402 64083 64132 6470 6480 6482 6515 6609 6614 6646 6652 6677 684 6900 6916 7031 7097 7108 7157 7355 7364 7369 7372 79679 79947 811 8434 84532 847 8644 8658 8703 8733 8794 8809 8821 8877 8930 929 9365 960 972 9953	Homo sapiens (human)
DOID:0110590	autosomal dominant nonsyndromic deafness 69 Aliases: DCUA DFNA69 autosomal dominant deafness 69 unilateral or asymmetric congenital deafness	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:3429	inclusion body myositis	ACLY ACOT7 CAT CD38 CD44 CHST3 CYP11A1 CYP17A1 CYP2C19 DAG1 DCN GNE HK1 ICAM1 ISYNA1 PAFAH1B1 PRNP PTEN RENBP SDC1 SIRT2	10020 11332 1557 1583 1586 1605 1634 22933 3098 3383 47 5048 51477 5621 5728 5973 6382 847 9469 952 960	Homo sapiens (human)
DOID:0060777	congenital secretory sodium diarrhea 8 Aliases: DIAR8	CALR DGAT1 PTGS2	5743 811 8694	Homo sapiens (human)
DOID:0080016	spina bifida	ABO APEX1 ARSA CD38 CHKA COMT FOLR1 FOLR2 GPC5 HK1 ISYNA1 ITPK1 PCYT1A	1119 1312 2262 2348 2350 28 3098 328 3705 410 5130 51477 952	Homo sapiens (human)
DOID:0050933	ovarian serous carcinoma	NCAM1 PTEN	4684 5728	Homo sapiens (human)
DOID:3321	GM2 gangliosidosis Aliases: gangliosidosis GM2	GLB1 GM2A HEXA HEXB HEXD OGA UGT8	10724 2720 2760 284004 3073 3074 7368	Homo sapiens (human)
DOID:5525	anal squamous cell carcinoma Aliases: Epidermoid anal carcinoma	CEACAM5 CEACAM7 LIPA PIK3CA PIK3CB PIK3CD PIK3CG PTEN SMUG1	1048 1087 23583 3988 5290 5291 5293 5294 5728	Homo sapiens (human)
DOID:0080046	Stickler syndrome	CEACAM5 CEACAM6 COL9A2 PTGS2 TECTA	1048 1298 4680 5743 7007	Homo sapiens (human)
DOID:0070115	Meckel syndrome 1 Aliases: MKS1 Meckel-Gruber syndrome, type 1	ALDH1A3 ALG8 ALG9 ARF4 INPP5E PKD1 PKD2 PTGDS UMOD	220 378 5310 5311 56623 5730 7369 79053 79796	Homo sapiens (human)
DOID:0110938	autosomal dominant osteopetrosis 2 Aliases: Albers-Schonberg osteopetrosis OPTA2 autosomal dominant Albers-Schonberg disease autosomal dominant osteopetrosis type II osteopetrosis autosomal dominant type 2	ARSA CLC DEGS1 DHCR24 EXTL2 EXTL3 PTDSS1	1178 1718 2135 2137 410 8560 9791	Homo sapiens (human)
DOID:5439	papillary hidradenoma	PIK3CA PIK3CB PIK3CD PIK3CG	5290 5291 5293 5294	Homo sapiens (human)
DOID:0060779	congenital malabsorptive diarrhea 4 Aliases: congenital malabsorptive diarrhea due to paucity of enteroendocrine cells congenital malabsorptive diarrhoea 4 congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells enteric anendocrinosis	DGAT1	8694	Homo sapiens (human)
DOID:4347	lymphocele Aliases: Lymph cyst	ABO	28	Homo sapiens (human)
DOID:0050780	obsolete Opitz-GBBB syndrome	GPC3 HK2 PIK3CA PIK3CB PIK3CD PIK3CG PRKAA2 SMUG1	23583 2719 3099 5290 5291 5293 5294 5563	Homo sapiens (human)
DOID:8955	sideroblastic anemia Aliases: ANEMIA SIDEROBLASTIC Anemia, hypochromic with iron loading	CALR CYP2E1	1571 811	Homo sapiens (human)
DOID:0070254	congenital disorder of glycosylation type IIb Aliases: CDG IIb CDG2B CDGIIb glucosidase I deficiency	MOGS	7841	Homo sapiens (human)
DOID:2893	cervix carcinoma Aliases: cancer of cervix carcinoma cervix uteri carcinoma of cervix carcinoma of the Cervix Uteri	ACE ADH1C AKR1B10 AKR1C3 ALPI ALPP ANXA5 APEX1 APRT B3GNT3 B4GALT3 CACNA2D2 CALR CAT CD38 CD44 CD55 CDH13 CEACAM5 CEACAM7 CHI3L1 CLEC10A COMT CYP19A1 CYP1A1 CYP1B1 CYP2E1 CYP4F3 DCN DHCR24 EFNA2 FBP1 FOLR1 G6PD GALNT7 GAPDH GCNT2 GLB1 GPC3 GPNMB GPX2 GPX3 HK2 HMMR HPGDS HPSE2 HPSE HS3ST2 ICAM1 IGF2R IL18R1 IL1R1 IL1RAP INPP4B ITPKC KL KLRK1 L1CAM LDHA LGALS1 LGALS3 LGALS9 LIPA LYPD5 MASP1 MASP2 MBD4 MBL2 MCAT MELTF MGLL MICA MMUT MPG MRC1 MSLN NT5E OGG1 OPCML PARP1 PARP2 PC PDIA3 PGD PIK3CA PIK3CB PIK3CD PIK3CG PIP5KL1 PKM PLA2G4A PLPP1 PRKAA2 PRSS21 PTEN PTGS1 PTGS2 RECK RGN SDC1 SDHA SDHD SIRT2 SMUG1 SOAT1 SPHK1 ST3GAL3 ST3GAL4 ST6GAL1 ST6GALNAC5 STS STT3A TIPARP TKT TKTL1 TM7SF2 TNFRSF10C TYMP UGCG VTCN1 XPNPEP2	10038 100507436 1012 10232 10331 10457 10462 1048 10747 10855 1087 10942 1116 11343 126 1312 138429 142 1543 1545 1571 1588 1604 1634 1636 1718 1890 1943 2203 22914 22933 2348 23583 248 250 2539 2597 25976 2651 2719 2720 27306 27349 284348 2877 2878 2923 308 3099 3161 328 3383 3482 353 3554 3556 3703 3897 3939 3956 3958 3965 3988 4051 412 4153 4241 4350 4360 4594 4907 4968 4978 5091 51809 5226 5290 5291 5293 5294 5315 5321 5563 5648 57016 5728 5742 5743 60495 6382 6389 6392 6480 6484 6487 6646 7086 7108 7357 7512 79679 80271 811 81849 8277 8434 847 8611 8644 8703 8794 8809 8821 8877 8930 9104 9254 9365 952 960 9956	Homo sapiens (human)
DOID:0090094	hypogonadotropic hypogonadism 1 with or without anosmia Aliases: dysplasia olfactogenitalis of de morsier	ACSM3 ADH5 CD44 CD55 CYP17A1 CYP19A1 GAS1 GK GPC1 HJV HS6ST1 HSD17B3 ICAM1 L1CAM MMUT NT5E PMM2 PNPLA6 SEMA7A SMPD3 SOAT1 STS TYMP	10908 128 148738 1586 1588 1604 1890 2619 2710 2817 3293 3383 3897 412 4594 4907 5373 55512 6296 6646 8482 9394 960	Homo sapiens (human)
DOID:2703	synovitis	ACLY ACSS2 CD44 CYP19A1 DHCR24 EFNA5 FOLR2 GPI HSD11B1 ICAM1 LGALS3 LPIN2 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PRKAA2 PRNP PTGS1 SCD SDC4 SMUG1 SOAT1 SPHK2 VCAM1	1588 1718 1946 2350 23583 23659 2821 3290 3383 3958 47 5290 5291 5293 5294 5563 55902 5621 56848 5742 6319 6385 6646 7412 960 9663	Homo sapiens (human)
DOID:0050664	Bietti crystalline corneoretinal dystrophy Aliases: Bietti's crystalline dystrophy	CYP2B6 SCD	1555 6319	Homo sapiens (human)

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