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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 **7201 - 7225** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▲
DOID:7061	obsolete precursor B lymphoblastic lymphoma/leukemia	PARP1	142	Homo sapiens (human)	DisGeNET
DOID:4489	malignant epithelial mesothelioma	CEACAM5 GPC1 HSPG2 ITLN1 VCAN	1048 1462 2817 3339 55600	Homo sapiens (human)	DisGeNET
DOID:0080119	mitochondrial DNA depletion syndrome 1 Aliases: mitochondrial DNA depletion syndrome 1 (MNGIE type) mitochondrial neurogastrointestinal encephalopathy syndrome, TYMP-related	TYMP	1890	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0080123	mitochondrial DNA depletion syndrome 4b Aliases: mitochondrial neurogastrointestinal encephalopathy syndrome	TYMP	1890	Homo sapiens (human)	DisGeNET
DOID:0060490	Schimke immuno-osseous dysplasia Aliases: Schimke immunoosseous dysplasia Schimke syndrome immunoosseous dysplasia Schimke type spondyloepiphyseal dysplasia - nephrotic syndrome	AKR1B10 CHPT1 GM2A HEXB	2760 3074 56994 57016	Homo sapiens (human)	DisGeNET
DOID:11693	acute apical periodontitis Aliases: acute apical periodontitis of pulpal origin	LGALS3	3958	Homo sapiens (human)	DisGeNET
DOID:4329	Erdheim-Chester disease	ASAH1 PIK3CA PIK3CB PIK3CD PIK3CG SMUG1	23583 427 5290 5291 5293 5294	Homo sapiens (human)	DisGeNET
DOID:0050437	Danon disease Aliases: ANTOPOL DISEASE PSEUDOGLYCOGENOSIS II	APRT	353	Homo sapiens (human)	DisGeNET
DOID:0050699	Dent disease Aliases: Dent disease 1 Dent disease 2 Dent's disease	CLC EXT2 INPP5B NAGLU OCRL	1178 2132 3633 4669 4952	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0111454	SHORT syndrome Aliases: Aarskog-Ose-Pande syndrome Lipodystrophy-Rieger anomaly-diabetes syndrome Rieger anomaly-partial lipodystrophy syndrome short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay	PIK3CA PIK3CB PIK3CD PIK3CG	5290 5291 5293 5294	Homo sapiens (human)	DisGeNET
DOID:12144	low compliance bladder Aliases: Low bladder compliance hyperactivity of bladder hypertonic bladder hypertonicity of bladder	HSPG2 ICAM1	3339 3383	Homo sapiens (human)	DisGeNET
DOID:6163	familial renal papillary carcinoma Aliases: Hereditary Papillary renal carcinoma	FH	2271	Homo sapiens (human)	DisGeNET
DOID:3587	pancreatic ductal carcinoma Aliases: malignant neoplasm of duct of Wirsung pancreatic duct cancer	ACE ANXA5 CALR GLUL INS L1CAM MSLN PDHX TYMP UGP2 VTCN1	10232 1636 1890 2752 308 3630 3897 7360 79679 8050 811	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:9883	Becker muscular dystrophy Aliases: Benign pseudohypertrophic muscular dystrophy benign congenital myopathy	ACE ALDH7A1 ALOX12 ALPP APRT ATRNL1 DAG1 FKRP GAA GK LARGE1 RGN	1605 1636 239 250 2548 26033 2710 353 501 79147 9104 9215	Homo sapiens (human)	DisGeNET
DOID:705	Leber hereditary optic neuropathy Aliases: Leber's hereditary optic neuropathy Leber's optic atrophy	ACE AKR1B1 CAT ENO2 GGT1 PGD TP53	1636 2026 231 2678 5226 7157 847	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0060688	arteriovenous malformations of the brain Aliases: cerebral arteriovenous malformation intracranial arteriovenous malformation	PCYT1A	5130	Homo sapiens (human)	DisGeNET
DOID:8455	pyridoxine deficiency anemia Aliases: vitamin B6 deficiency syndrome	PIGV	55650	Homo sapiens (human)	DisGeNET
DOID:9123	eczema herpeticum Aliases: Herpes simplex dermatitis of eyelid Herpes simplex eyelid dermatitis Herpes simplex virus dermatitis herpes simplex dermatitis herpes simplex virus eyelid dermatitis	CD14 FCGR3B	2215 929	Homo sapiens (human)	DisGeNET
DOID:4766	embryoma Aliases: Blastoma	A4GALT A4GNT ABAT ABO ACACA ACACB ACADL ACADS ACAT1 ACE ACHE ACLY ACO1 ACO2 ACOT7 ACOT8 ACSBG1 ACSL3 ACSL4 ACSL5 ACSM3 ACSS1 ACSS2 ACSS3 ACYP2 ADH1A ADH1B ADH1C ADH4 ADH5 ADH6 ADH7 AGK AGPAT1 AGPAT2 AGPS AGRN AKR1A1 AKR1B10 AKR1B1 AKR1C1 AKR1C2 AKR1C3 AKR1C4 ALDH1A3 ALDH2 ALDH3A1 ALDH7A1 ALDH9A1 ALDOA ALG2 ALG3 ALOX12 ALOX15 ALOX15B ALOX5 ALPI ALPL ALPP AMACR AMT AMY1A AMY1B AMY1C ANXA4 ANXA5 ANXA7 APRT ARSA ARSB ARSF ARSG ART1 ASAH1 ATP6AP2 B3GALNT2 B3GAT1 B3GNT3 B3GNT6 B4GALNT1 B4GALNT2 B4GALNT3 B4GALNT4 B4GALT1 B4GALT3 B4GALT5 BAAT BCKDHB BPHL BST1 BST2 C1GALT1 C1GALT1C1 CACNA2D1 CACNA2D2 CACNA2D3 CALR CANX CAT CBR1 CD109 CD14 CD177 CD1D CD209 CD22 CD248 CD33 CD38 CD44 CD48 CD55 CD74 CD93 CDH13 CDS1 CEACAM5 CEACAM6 CEACAM7 CEL CEMIP CERS1 CERS2 CERS4 CERS5 CERS6 CFC1 CHGA CHI3L1 CHIT1 CHKA CHPF2 CHPF CHPT1 CHST15 CHST3 CHSY1 CLC CLEC10A CLEC12A CLEC12B CLEC14A CLEC18B CLEC1B CLEC3A CLEC6A CLEC7A CMAS CNTN1 CNTN2 CNTN3 COMT CPM CPT1A CPT1B CPT1C CPT2 CRYBG3 CRYL1 CS CSPG4 CTSA CYB5R3 CYP11B2 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP24A1 CYP27A1 CYP27B1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP2E1 CYP2J2 CYP2R1 CYP2U1 CYP3A4 CYP3A5 CYP3A7-CYP3A51P CYP3A7 CYP4A11 CYP4F2 CYP4F3 CYP51A1 CYP7B1 DAD1 DAG1 DBT DCN DEGS1 DGCR2 DGKA DGKB DGKD DGKE DGKZ DHCR24 DHDDS DHRS11 DLD DPEP1 DSE EBP ECHS1 EFNA1 EFNA2 EFNA5 ELOVL5 ENO1 ENO2 ENOSF1 ENPP1 ENPP2 ENPP3 EPHX2 EPM2A EXT1 EXTL1 FADS1 FADS2 FASN FBP1 FBXO17 FCGR3B FCN1 FCN2 FDFT1 FDPS FH FKTN FMOD FOLR1 FOLR2 FUCA1 FUT1 FUT2 FUT3 FUT4 FUT6 FUT8 FUT9 G6PC1 G6PC3 G6PD GAD1 GAD2 GAL3ST1 GALC GALNS GALNT11 GALNT12 GALNT14 GALNT2 GALNT3 GALNT5 GALNT6 GALNT7 GAPDH GAPDHS GAS1 GBA1 GBE1 GBGT1 GCK GCNT1 GCNT3 GCSH GDPD5 GFPT1 GFPT2 GFRA1 GGT1 GLB1 GLCE GLDC GLO1 GLUL GM2A GMDS GML GNPAT GNPTAB GOLPH3 GPAA1 GPAM GPC1 GPC2 GPC3 GPC6 GPD1 GPD2 GPI GPLD1 GPNMB GPX1 GPX2 GPX3 GPX7 GUSB HACD1 HADH HADHB HAO2 HAS1 HAS2 HEXA HK1 HK2 HKDC1 HMGCS2 HMMR HPGDS HPRT1 HPSE HS3ST1 HS3ST2 HSD11B1 HSD11B2 HSD17B12 HSD17B1 HSD17B2 HSD17B6 HSD17B7 HSPG2 HYAL1 HYAL2 HYAL3 ICAM1 ICAM2 ICAM5 IDH1 IDH2 IDS IDUA IGF2R IL18R1 IL1R1 IL1RAPL1 IMPA1 IMPA2 INPP1 INPP4A INPP4B INPP5D INPP5E INPPL1 ISYNA1 ITPKA ITPKB KHK KL KLB KLRB1 KLRC1 KLRD1 KLRK1 L1CAM LALBA LARGE2 LAYN LCT LDHA LDHB LDHC LGALS1 LGALS3 LGALS4 LGALS8 LGALS9 LIPC LIPG LPCAT1 LPIN1 LPL LSS LTA4H LY6K LY75 LYPD3 LYPD5 LYPLA1 M6PR MACROD1 MACROD2 MAG MAN2A1 MANEA MASP2 MBD4 MBL2 MCAT MCFD2 MDGA2 MDH1 MDH2 ME1 ME2 MELTF MGAM MGAT1 MGAT3 MGAT4A MGAT4B MGAT5 MGLL MICA MMP17 MMP25 MMUT MPG MPI MPPE1 MRC1 MSLN MSMO1 MTAP MTM1 MTMR3 MTMR7 MUTYH NAAA NAGA NAGLU NAMPT NANS NCAM1 NDST1 NDST4 NDUFAB1 NEIL1 NEIL2 NEIL3 NEU1 NEU3 NEU4 NGLY1 NT5E NTHL1 NTM NUDT5 OGA OGDH OGDHL OGG1 OGT OLR1 OPCML OVGP1 OXCT1 PAFAH1B1 PAFAH1B2 PAPSS1 PARG PARP14 PARP15 PARP1 PARP2 PARP3 PARP4 PARP6 PARP9 PC PCK1 PCK2 PCYT1A PCYT1B PCYT2 PDHA1 PDHX PDIA3 PFKFB2 PFKFB3 PFKFB4 PFKM PFKP PGAM1 PGAP2 PGD PGK1 PGM1 PGP PI4K2A PIGA PIGH PIGS PIGU PIGX PIK3C2A PIK3C2G PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PIKFYVE PIP4K2B PIP4K2C PIP5K1B PIP5KL1 PISD PKD1 PKD2 PKM PLA2G10 PLA2G15 PLA2G1B PLA2G2A PLA2G2D PLA2G3 PLA2G4A PLA2G6 PLA2R1 PLAAT3 PLAUR PLB1 PLCB2 PLCB4 PLCD1 PLCE1 PLCG1 PLCG2 PLD1 PLD2 PLEKHA8 PLET1 PLOD3 PLPP1 PLPP2 PLPP3 PMM2 PNP PNPLA2 PNPLA3 PNPLA6 POGLUT1 POMT2 PPP1R3A PPP1R3B PPP1R3C PPT1 PPT2 PRG2 PRG3 PRKAA2 PRNP PRPS1 PRPS2 PRSS8 PSAP PSMD10 PTEN PTGDS PTGES3 PTGES PTGS1 PTGS2 PYGB RECK RENBP RGMA RGMB RGN RPE RPN2 RTN4R SCD5 SCD SDC1 SDC2 SDC3 SDC4 SDHA SDHB SDHC SDHD SELE SELL SELP SEMA7A SFTPA1 SFTPA2 SFTPC SFTPD SGMS1 SGMS2 SGPL1 SGPP1 SGPP2 SGSH SHMT1 SHMT2 SI SIGLEC15 SIGLEC1 SIGLEC7 SIGLEC9 SIRT2 SIRT4 SIRT6 SLC17A5 SLC26A2 SLC27A5 SLC2A2 SLC2A3 SLC2A4 SLC2A5 SLC33A1 SLC35A1 SLC35A2 SLC35G1 SLC37A4 SLC5A1 SMC3 SMPD1 SMPD2 SMPD3 SMUG1 SOAT1 SORD SPAM1 SPHK1 SPHK2 SPTLC1 SQLE SRD5A1 SRD5A2 SRGN ST3GAL1 ST3GAL3 ST3GAL4 ST6GAL1 ST6GALNAC1 ST6GALNAC2 ST6GALNAC5 ST8SIA2 ST8SIA3 ST8SIA4 STS SULF1 SULF2 SULT1E1 SUMF1 TDG TEX101 THEM4 TIGAR TIPARP TKT TKTL1 TKTL2 TM7SF2 TMED5 TMEM165 TMEM260 TNFRSF10C TNKS TPI1 TREH TUSC3 TYMP UGCG UGGT1 UGGT2 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9 UGT2A1 UGT2B10 UGT2B17 UGT2B4 UGT2B7 UGT8 ULBP1 ULBP2 UMPS UNG UPP1 VCAM1 VCAN VNN1 VNN2 VTCN1 XYLT2	10005 10038 10039 100507436 10082 100861540 1012 10135 10143 10159 10195 10232 10327 10331 10394 1040 10434 10457 10462 1048 10554 10555 10558 10559 1056 10610 10682 10690 10715 10724 10728 10747 10825 10855 1087 10908 10941 10998 1109 1113 11141 11145 1116 11164 1118 11181 1119 11226 11227 11282 11320 11332 11343 113612 115290 117145 1178 120071 120227 124 124872 125 126 126129 127 1272 128 128869 129807 130 130367 131 1312 131544 135228 1368 1374 1375 1376 138429 140733 142 143 1431 143903 1462 1464 148789 151056 152831 1543 1544 1545 1551 1555 1557 1558 1559 1571 1573 1576 1577 1579 1585 1586 1588 1591 1593 159371 1594 1595 1603 160364 1604 1605 1606 1607 161198 161357 1629 1634 1636 1645 1646 165631 166929 1718 1727 1738 18 1800 1836 1890 1892 192134 1942 1943 1946 200576 2023 2026 2053 2131 2134 217 218 2181 2182 2194 220 2203 2215 2218 2219 221914 2220 2222 2224 223 226 2271 22856 22901 22914 22918 22925 22933 231 23175 23205 23213 2331 23409 2348 2350 23583 23600 23659 23761 239 240 246 247 248 249 250 2517 2523 2524 2525 2526 2528 252969 2530 253782 2538 2539 2542 2571 2572 2581 2583 2588 2590 2591 259230 2597 25976 26035 2619 26279 2629 26301 2632 26330 2645 2650 26503 2653 2673 2674 2678 2683 27036 27076 27087 27163 27180 2719 2720 27306 2731 27315 27349 2739 275 2752 276 2760 2762 2765 277 278 28 2817 2819 2820 2821 2822 283358 283871 284266 284348 285362 285704 2876 2877 2878 2882 28992 29071 2923 2990 29940 29954 29956 3032 3033 3036 3037 307 3073 308 30835 3098 3099 31 310 3158 3161 32 3251 3290 3291 3292 3294 33 3339 3340 3373 3383 3384 338707 3417 3418 3423 3425 3482 349633 35 353 3554 3612 3613 3628 3631 3635 3636 3706 3707 375790 3795 38 3820 3821 3824 387837 3897 3906 3938 3939 3945 3948 3956 3958 3960 3964 3965 3990 3992 4023 4047 4048 4051 4065 4074 4099 410 411 412 4124 4153 416 417 4190 4191 4199 4200 4241 4245 4248 4249 427 43 4326 4350 4351 4360 4507 4534 4594 4595 4668 4669 4680 4684 47 4706 4758 48 4860 4907 4913 4967 4968 497190 4973 4978 50 501 5016 5019 5048 50487 5049 5067 50863 5091 50999 51046 5105 5106 51084 51144 51146 51179 51196 51266 5130 51363 51477 51478 51548 5160 5167 5168 5169 51703 51809 5208 5209 5210 5213 5214 5223 5226 5230 5236 5277 5283 5286 5288 5289 5290 5291 5293 5294 5310 5311 5315 5319 5320 5321 5329 5330 5332 5333 5335 5336 5337 5338 5373 53947 54187 54480 54575 54576 54577 54578 54579 54600 54625 54657 54658 54659 54742 5476 54916 54965 5506 5507 55247 55361 5538 55512 5552 5553 55556 5563 55750 55753 55757 55768 55799 55808 55858 55902 55907 55959 55997 5621 5631 5634 5652 5660 56623 56848 56886 56913 56963 56965 56983 56994 570 57016 57103 57104 57124 57126 5716 57214 5728 5730 5742 5743 57678 5833 5834 594 5973 60481 6120 6185 6296 6307 6319 6382 6383 6385 6389 6390 6391 63917 6392 6401 6402 6403 64083 64132 64386 6440 6441 6448 64579 64581 6470 6472 6476 6480 6482 6484 6487 65078 6514 6515 6517 6518 6523 65258 653509 6609 6610 6614 6646 6652 6677 670 6713 6715 6716 6783 683 684 6900 6996 7086 7087 7108 7167 729238 7355 7357 7363 7364 7365 7367 7368 7372 7374 7378 7412 781 7903 79154 79158 7957 79586 79603 79611 79623 79660 79661 79679 79694 79695 79837 79888 7991 79947 79966 80201 80328 80329 80339 8050 811 8128 81537 81544 81849 821 8277 83639 83666 8372 8395 8396 8398 8399 84076 8434 8443 84532 847 84725 8473 8482 8505 8525 8526 8527 8529 85365 8540 8560 8611 8612 8613 8630 8644 8658 8692 8703 873 8733 8794 8809 8821 8875 8876 8877 8879 8897 8930 8972 8985 90411 9061 91012 9104 9108 912 9126 9197 9200 9245 9254 92579 929 933 9334 9365 9374 9388 93978 94005 9415 9420 945 9468 9469 9514 952 9536 960 962 9672 972 98 9945 9956 9957 9993	Homo sapiens (human)	DisGeNET DisGeNET
DOID:3713	ovary adenocarcinoma Aliases: Ovarian adenocarcinoma ovarian adenoacanthoma	CYP24A1 NEU1 NEU3 PTGS2 SMUG1	10825 1591 23583 4758 5743	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:4247	coronary restenosis	ACE CDH13 MBL2 TNF TP53	1012 1636 4153 7124 7157	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:7378	pituitary hypoplasia	SRD5A3	79644	Homo sapiens (human)	DisGeNET
DOID:1342	congenital hypoplastic anemia Aliases: congenital aplastic anaemia congenital aplastic anemia congenital hypoplastic anaemia	CD38 LPIN2 UMPS	7372 952 9663	Homo sapiens (human)	DisGeNET DisGeNET
DOID:1339	Diamond-Blackfan anemia Aliases: Blackfan - Diamond syndrome chronic constitutional pure red cell anaemia	CD38 LPIN2 UMPS	7372 952 9663	Homo sapiens (human)	DisGeNET DisGeNET
DOID:5389	oxyphilic adenoma Aliases: Follicular adenoma, oxyphilic cell Oncocytoma	AMACR CD44 FH HMMR HYAL4 LDHA NCAM1 PGK1 PRSS8 PTEN PTGS1 PTGS2 SDHA SDHB SLC2A2 SLC2A4 SMUG1 VCAM1	2271 23553 23583 23600 3161 3939 4684 5230 5652 5728 5742 5743 6389 6390 6514 6517 7412 960	Homo sapiens (human)	DisGeNET DisGeNET

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