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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 **4276 - 4300** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:2154	nephroblastoma Aliases: adult nephroblastoma	AKR1C3 ANXA5 APRT CALR CAT CD14 CD38 CD44 CDH13 CEACAM5 CRLS1 CYP19A1 CYP27B1 ENO2 EXT2 FH FUT4 GAPDH GPC3 GUSB HPGDS IGF2R MRC1 MSLN NCAM1 OGG1 PARP1 PCNA PIK3CA PIK3CB PIK3CD PIK3CG PLCE1 PLCG2 PNPLA2 PTEN PTGS2 QPRT RECK SHMT1 SLC2A1 SLC2A3 SRD5A2	1012 10232 1048 142 1588 1594 2026 2132 2271 23475 2526 2597 2719 27306 2990 308 3482 353 4360 4684 4968 5111 51196 5290 5291 5293 5294 5336 54675 57104 5728 5743 6470 6513 6515 6716 811 8434 847 8644 929 952 960	Homo sapiens (human)
DOID:0060537	mitochondrial complex II deficiency Aliases: isolated mitochondrial respiratory chain complex II deficiency isolated succinate-CoQ reductase deficiency isolated succinate-coenzyme Q reductase deficiency isolated succinate-ubiquinone reductase deficiency	SDHA SDHB SDHD SORD	6389 6390 6392 6652	Homo sapiens (human)
DOID:162	cancer Aliases: malignant neoplasm malignant tumor primary cancer	tpi1a tpi1b	192309 560753	Danio rerio (zebrafish)
DOID:0110462	autosomal recessive nonsyndromic deafness 101 Aliases: DFNB101 autosomal recessive deafness 101	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:3454	brain infarction	Hmgb1 Igf2 Parg Tnf	24483 24835 25459 83507	Rattus norvegicus (Norway rat)
DOID:0080561	congenital disorder of glycosylation Ii Aliases: congenital disorder of glycosylation 1i	alg2	595052	Xenopus tropicalis (tropical clawed frog)
DOID:11725	Cornelia de Lange syndrome Aliases: Brachmann de Lange syndrome De Lange syndrome	SMC3	853371	Saccharomyces cerevisiae S288C
DOID:0110858	polycystic kidney disease 1 Aliases: Apkd1 Pkd1 Polycystic Kidney Disease, Adult, Type I	Myc	24577	Rattus norvegicus (Norway rat)
DOID:0110561	autosomal dominant nonsyndromic deafness 31 Aliases: DFNA31 autosomal dominant deafness 31	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:1324	lung cancer	hst-3.2	3564879	Caenorhabditis elegans
DOID:0111626	D-glyceric aciduria Aliases: D-glycerate kinase deficiency D-glyceric acidemia D-glycericacidemia deficiency of glycerate kinase non ketotic hyperglycinemia syndrome	Glyctk	684314	Rattus norvegicus (Norway rat)
DOID:0060123	connective tissue benign neoplasm Aliases: mesenchymal tissue neoplasm neoplasm of soft tissue neoplasm of soft tissues soft tissue benign neoplasm tumor of the soft tissue	IDH1 IL1R1 NANS OGA SMUG1	10724 23583 3417 3554 54187	Homo sapiens (human)
DOID:3891	placental insufficiency	Pdx1 Ppargc1a	18609 19017	Mus musculus (house mouse)
DOID:0110246	cataract 26 multiple types Aliases: CTRCT26	AGK ALDH7A1 CRYL1 CYP27A1 GALK1 GCNT2 GPC5 INPP5K LSS OCRL PTEN SLC33A1 SORD	1593 2262 2584 2651 4047 4952 501 51084 51763 55750 5728 6652 9197	Homo sapiens (human)
DOID:0112380	muscular dystrophy-dystroglycanopathy type B2 Aliases: MDDGB2 congenital muscular dystrophy POMT2-related	pomt2	100490100	Xenopus tropicalis (tropical clawed frog)
DOID:5303	cervical clear cell adenocarcinoma Aliases: Clear cell carcinoma of the Cervix Uteri	PIK3CA PIK3CB PIK3CD PIK3CG	5290 5291 5293 5294	Homo sapiens (human)
DOID:0060713	autosomal recessive congenital ichthyosis 4B Aliases: ARCI4B harlequin ichthyosis harlequin type ichthyosis congenita harlequin type ichthyosis fetalis	piga	791759	Danio rerio (zebrafish)
DOID:2859	hemoglobin C disease Aliases: Hb-C disease	ABO FUT1 G6PD NT5E SCD UGT1A1	2523 2539 28 4907 54658 6319	Homo sapiens (human)
DOID:0110114	atrial heart septal defect 9 Aliases: ASD9 atrial septal defect 9	ACADVL ALG12 ARSA ARSD ATP6V1A B3GALT6 B3GAT3 B3GLCT CAT CFC1 CHST14 CHST3 COMT CYP11A1 CYP11B2 CYP1B1 CYP2E1 DSE FIG4 FKTN G6PC3 GAA GPC3 GPC6 MASP1 MMUT PCYT1A PIGA PIGN PIGQ PLD1 PTEN RENBP SMC3 TALDO1 TGDS TKT XYLT2	10082 113189 126792 1312 145173 1545 1571 1583 1585 2218 23483 23556 2548 26229 2719 29940 37 410 414 4594 5130 523 5277 5337 55997 5648 5728 5973 64132 6888 7086 79087 847 9091 9126 92579 9469 9896	Homo sapiens (human)
DOID:1324	lung cancer	ABO ACACA ACAT1 ACE ACHE ACLY ACOT7 ACOT8 ACSBG1 ACSL1 ACSL3 ACSL4 ACSS1 ACSS2 ACYP2 ADH1A ADH1B ADH1C ADH5 ADH7 AGL AGRN AKR1A1 AKR1B10 AKR1B1 AKR1C1 AKR1C2 AKR1C3 ALDH1A3 ALDH1B1 ALDH2 ALDH3A1 ALDH3A2 ALDH7A1 ALDOA ALG13 ALG1 ALOX12B ALOX15 ALOX15B ALOX5 ALPI ALPP AMACR AMY1A AMY1B AMY1C ANXA4 ANXA5 APRT ARSA ARSF ASAH1 ATP6AP2 ATRNL1 B3GALNT1 B3GAT1 B3GNT3 B3GNTL1 B4GALT1 BAAT BPHL BRAF BST1 CA4 CACNA2D2 CALR CANX CAT CBR1 CD109 CD14 CD177 CD1D CD22 CD33 CD38 CD44 CD55 CD74 CD93 CDH13 CEACAM5 CEACAM6 CEACAM7 CEMIP CERS6 CHAT CHGA CHI3L1 CHKA CHKB CHODL CHPT1 CHST7 CLEC10A CLEC14A CNTN1 CNTN2 COMT CPM CRLS1 CRYBG3 CTSA CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP21A2 CYP24A1 CYP27A1 CYP27B1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP2E1 CYP2R1 CYP3A4 CYP3A5 CYP3A7-CYP3A51P CYP3A7 CYP4F3 DCN DDOST DGKA DGKH DHCR24 DHDDS DHDH DLD EBP EFNA1 ELOVL6 ENO1 ENO2 ENO3 ENPP1 ENPP2 EPHX2 ERLEC1 EXTL3 FASN FBP1 FBXO17 FCGR3B FCN2 FDFT1 FOLR1 FOLR2 FUT10 FUT11 FUT1 FUT2 FUT3 FUT4 FUT5 FUT7 FUT8 FUT9 G6PD GAD1 GALC GALK2 GALNS GALNT14 GALNT3 GALNT6 GAPDH GBE1 GCK GCNT1 GCNT3 GFPT2 GGT1 GLB1 GLCE GLDC GLUL GMDS GML GOLPH3 GPC1 GPC3 GPC5 GPI GPX1 GPX2 GPX3 GPX7 GUSB HADHA HAGH HAS2 HAS3 HK1 HK2 HKDC1 HMMR HPGDS HPRT1 HPSE HS3ST2 HS3ST3B1 HS6ST2 HSD11B1 HSD11B2 HSD17B1 HSD17B6 HSPG2 HYAL1 HYAL2 ICAM1 ICAM2 IDH1 IDH2 IDH3A IGF2R IL18R1 IL1RL1 IMPA1 INPP4A INPP4B INPP5D INPPL1 ISYNA1 ITPKA ITPKB KHK KL KLB KLRB1 KLRD1 KLRK1 L1CAM LAYN LDHA LDHB LDHC LGALS1 LGALS3 LGALS4 LGALS8 LGALS9 LIPC LPCAT1 LPIN1 LPIN3 LPL LY6K LYNX1 LYPD3 LYPD5 LYPLA1 MBD4 MBL2 MCAT MDH1 MDH2 ME1 ME2 MELTF MGLL MICA MMUT MOGS MPG MRC1 MSLN MTAP MTMR3 MUTYH NAMPT NCAM1 NEIL1 NEIL2 NEU1 NEU3 NT5E NTHL1 OGA OGG1 OLR1 OPCML PAFAH1B1 PAPSS1 PARG PARP1 PC PCK2 PCYT1A PDIA3 PFKFB3 PGAM1 PGD PGK1 PIGN PIK3C2B PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKD2 PKM PLA2G10 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLAUR PLB1 PLCB3 PLCB4 PLCD1 PLCE1 PLCG1 PLCH1 PLOD3 PLPP4 PLPP5 PMM2 PNPLA2 POFUT1 POGLUT1 PPT1 PRG2 PRKAA2 PRNP PRSS8 PSMD10 PTEN PTGES3 PTGES PTGIS PTGS1 PTGS2 PYGB QTRT1 RECK REG1B REG3G RENBP RGMB RGN RPN2 RTN4R SCD SDC1 SDC2 SDC4 SDHA SDHC SELE SELP SEMA7A SFTPA1 SFTPA2 SFTPC SFTPD SGMS1 SHMT1 SHMT2 SIGLEC9 SIRT2 SIRT4 SIRT6 SLC17A5 SLC26A2 SLC2A10 SLC2A3 SLC2A5 SLC33A1 SLC35A4 SLC5A1 SMC3 SMPD1 SMUG1 SOAT1 SPHK1 SPHK2 SQLE SRGN ST6GAL1 ST8SIA2 ST8SIA4 STS SULF1 SULF2 SULT1E1 SYNJ2 THEM4 TIGAR TM7SF2 TMTC3 TNFRSF10C TNKS2 TNKS TPI1 TPST1 TREH TUSC3 TYMP UGCG UGDH UGP2 UGT1A1 UGT1A3 UGT1A6 UGT1A7 UGT1A9 UGT2B17 UGT8 ULBP1 UMPS UNG VCAM1 VCAN VTCN1 XXYLT1 YDJC	10005 100507436 100861540 1012 10135 10159 10232 10327 10331 10434 10462 1048 10682 10690 10724 10728 10825 10855 1087 1103 1113 1116 11181 1119 1120 11226 11332 11343 113829 115290 117145 120227 124 125 126 1272 128 130120 131 1312 131544 135228 1368 140578 142 143903 1462 146712 150223 151056 152002 152831 1543 1544 1545 1551 1555 1557 1558 1559 1571 1576 1577 1586 1588 1589 1591 1593 1594 1604 160418 1606 160851 161198 1634 1636 1645 1646 1650 170384 1718 1738 178 1836 1890 1942 196051 2023 2026 2027 2053 2137 217 218 2180 2181 2182 219 2194 220 2203 2215 2220 2222 224 226 2262 22914 22918 22933 23007 231 23175 23205 23213 23409 2348 2350 23509 23556 23583 23600 240 242 246 247 248 250 2523 2524 2525 2526 2527 2529 252969 2530 253782 2539 2571 2581 2585 2588 2591 259230 2597 26033 26035 2632 2645 2650 26503 2678 2683 27076 27087 27180 2719 2720 27248 27294 27306 2731 27349 2752 276 2762 2765 277 278 28 2817 2821 284348 285704 2876 2877 2878 2882 2923 2990 3029 3030 3037 3038 307 308 3098 3099 31 3161 3251 3290 3291 3292 3339 3373 3383 3384 3417 3418 3419 3482 353 3612 3631 3635 3636 3706 3707 375790 3795 38 3820 3824 3897 3939 3945 3948 3956 3958 3960 3964 3965 3990 4023 4051 410 412 4153 416 4190 4191 4199 4200 4241 427 43 4350 4360 4507 4594 4595 4680 4684 47 4758 4907 4913 4968 4973 4978 501 5048 5091 5106 51196 5130 51477 51548 5167 5168 5209 5223 5226 5230 5287 5289 5290 5291 5293 5294 5310 5311 5315 5319 5320 5321 5329 5331 5332 5333 5335 5373 54577 54578 54600 54658 54659 54675 54742 5476 5538 5552 5553 5563 55902 55959 56052 5621 5652 56548 56848 56983 56994 570 57016 57103 57104 57126 5716 57214 5728 5740 5742 5743 5834 5968 5973 6185 6319 6382 6383 6385 6389 6391 6401 6403 64083 6440 6441 6470 6472 6480 64900 65078 6515 6518 6523 653509 66004 6609 6646 670 6713 673 6783 683 6900 7108 7167 729238 7357 7358 7360 7367 7368 7372 7374 7412 762 7841 7903 79071 79623 79661 79679 79868 79888 7991 79947 80201 80329 80351 81031 811 8128 81890 821 8398 8399 8434 84513 84532 8460 847 84750 8482 8505 8630 8644 8658 8692 8706 873 8794 8809 8821 8871 8877 8897 8930 8985 90161 9061 9104 912 9126 9173 9197 9245 9254 929 933 9365 945 952 9536 960 972 98 9945 9953 9956	Homo sapiens (human)
DOID:0112198	spondyloepimetaphyseal dysplasia with joint laxity type 1 Aliases: SEMDJL1 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	beta3GalTII	35848	Drosophila melanogaster (fruit fly)
DOID:0112315	brain small vessel disease 3 Aliases: BSVD3	CG31915	319025	Drosophila melanogaster (fruit fly)
DOID:614	lymphopenia Aliases: Lymphocytopenia	Tnf	21926	Mus musculus (house mouse)
DOID:0060245	Mast syndrome Aliases: SPG21 autosomal recessive spastic paraplegia 21 autosomal recessive spastic paraplegia type 21 hereditary spastic paraplegia 21	B4GALNT1 CYP2B6 CYP2U1 CYP39A1 CYP7B1 FAR1 GBA2 L1CAM MAG PCYT2 PLA2G6 PNPLA6 SELENOI SLC33A1 ST3GAL5	10908 113612 1555 2583 3897 4099 51302 57704 5833 8398 84188 85465 8869 9197 9420	Homo sapiens (human)
DOID:0110810	hereditary spastic paraplegia 5A Aliases: SPG5A autosomal recessive spastic paraplegia 5A autosomal recessive spastic paraplegia type 5A	B4GALNT1 CYP2B6 CYP2U1 CYP39A1 CYP7B1 FAR1 GBA2 L1CAM MAG PCYT2 PLA2G6 PNPLA6 SELENOI SLC33A1 ST3GAL5	10908 113612 1555 2583 3897 4099 51302 57704 5833 8398 84188 85465 8869 9197 9420	Homo sapiens (human)

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