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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 **6001 - 6025** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:2634	cystadenoma Aliases: Cystoma	CHST3 GOLPH3 PIK3CA PIK3CB PIK3CD PIK3CG PTEN SFTPC TNFRSF10C	5290 5291 5293 5294 5728 64083 6440 8794 9469	Homo sapiens (human)	DisGeNET
DOID:0080531	dedifferentiated liposarcoma	CALR ENPP2 FASN KL PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PSMD10 PTEN SDC1 STS	142 2194 412 5168 5290 5291 5293 5294 5716 5728 6382 811 9365	Homo sapiens (human)	DisGeNET
DOID:13072	acquired hyperkeratosis Aliases: Keratoderma - acquired Keratoderma, acquired acquired keratoderma	ALDH3A2 ALOX12B APRT B3GAT1 CAT CD44 CLEC7A COG6 ELOVL4 ENPP1 GBA1 GLA MOGS MPDU1 MRC1 NAGA NEU1 NSDHL OGG1 PIGL PIK3CA PTGS2 SDC1 SPTLC1 SRD5A3 STS SULT2B1	10558 224 242 2629 27087 2717 353 412 4360 4668 4758 4968 50814 5167 5290 5743 57511 6382 64581 6785 6820 7841 79644 847 9487 9526 960	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0111134	focal segmental glomerulosclerosis 9 Aliases: FSGS9	ACE	1636	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0111313	idiopathic generalized epilepsy 12 Aliases: EIG12	SLC2A1	6513	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110491	autosomal recessive nonsyndromic deafness 32 Aliases: DFNB32 HIIMS autosomal recessive deafness 105 autosomal recessive deafness 32 hearing impairment infertile male syndrome	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)	DisGeNET
DOID:12161	peripheral retinal degeneration Aliases: peripheral degeneration of retina	ARSG FKRP FKTN HGSNAT LARGE1 POMGNT1 POMT1 POMT2 RPE	10585 138050 2218 22901 29954 55624 6120 79147 9215	Homo sapiens (human)	DisGeNET
DOID:2825	nose disease Aliases: disorder of the nose nasal disorder	PTGS1 PTGS2	5742 5743	Homo sapiens (human)	DisGeNET
DOID:4079	heart valve disease Aliases: Valvular heart disease	ACACA ACE CALR FDPS GALNT1 IDS IL1R1 LRP5 TNF	1636 2224 2589 31 3423 3554 4041 7124 811	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:10587	Krabbe disease Aliases: Diffuse globoid body sclerosis GLOBOID CELL LEUKOENCEPHALOPATHY Galactosylceramide beta-galactosidase deficiency Krabbe's disease Krabbe's leukodystrophy beta galactocerebrosidase deficiency globoid cell leukodystrophy	ARSA ASAH1 CHIT1 DEGS1 EBP GALC GLB1 IDUA IGF2R PLA2G1B PLB1 PSAP	10682 1118 151056 2581 2720 3425 3482 410 427 5319 5660 8560	Homo sapiens (human)	Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:3450	cutaneous Paget's disease Aliases: Paget's disease of skin cutaneous Paget disease extramammary Paget's disease	CEACAM5 CEACAM7 LDHA MRC1 NEU1 PIK3CA PIK3CB PIK3CD PIK3CG SMUG1 VTCN1	1048 1087 23583 3939 4360 4758 5290 5291 5293 5294 79679	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:9487	Meckel's diverticulum Aliases: Meckel Diverticulum Persistent vitelline duct	ACSL4 ALG13 GPC3 IL1RAPL1	11141 2182 2719 79868	Homo sapiens (human)	DisGeNET
DOID:3610	breast mucinous carcinoma Aliases: Invasive mucinous breast carcinoma	PIK3CA SMUG1	23583 5290	Homo sapiens (human)	DisGeNET
DOID:0081326	oxoglutarate dehydrogenase deficiency Aliases: Oxoglutaric aciduria alpha-ketoglutarate dehydrogenase deficiency	OGDH OGDHL	4967 55753	Homo sapiens (human)	Alliance of Genome Resources
DOID:7848	interdigitating dendritic cell sarcoma Aliases: Interdigitating cell sarcoma	FCER2 SLC35B2	2208 347734	Homo sapiens (human)	DisGeNET DisGeNET
DOID:440	neuromuscular disease	ACE ACHE ACSL4 APRT CHAT DAG1 FKRP GAA GFPT1 GNE GPI MAG MGAM MTM1 PIK3CA PIK3CB PIK3CD PKD1L2 POMT1 PTGS1 TPI1	10020 10585 1103 114780 1605 1636 2182 2548 2673 2821 353 4099 43 4534 5290 5291 5293 5742 7167 79147 8972	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:4723	intracranial hypotension	IDUA	3425	Homo sapiens (human)	DisGeNET
DOID:4205	cerebellum cancer Aliases: cerebellar cancer malignant tumor of Cerebellum	PTEN	5728	Homo sapiens (human)	DisGeNET
DOID:0060586	Noonan syndrome 8 Aliases: NS8	ACADS AMT ARSA ARSD B4GALT7 BAAT CAT CHPT1 CYP11A1 DAG1 DCN DHDDS FOLR1 GALNT14 GAPDH GCSH GLB1 GLDC GPI HSPG2 KL OGG1 PARP1 PGAM2 PIK3CA PIK3CB PIK3CD PIK3CG PRNP PTEN SGPL1 SMC3 STS TNKS XYLT2	11285 142 1583 1605 1634 2348 2597 2653 2720 2731 275 2821 3339 35 410 412 414 4968 5224 5290 5291 5293 5294 5621 56994 570 5728 64132 79623 79947 847 8658 8879 9126 9365	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:8440	ileus Aliases: Ileus of intestine	ACSBG1 CD55 GGT1 PTGES PTGS2 SDHA SDHB SDHC SDHD	1604 23205 2678 5743 6389 6390 6391 6392 9536	Homo sapiens (human)	DisGeNET
DOID:3071	gliosarcoma Aliases: Glioblastoma with sarcomatous component	ACAT1 ACE ACOD1 ACOT7 ACSBG1 ACSL1 ACSL3 ACSL4 ACSL5 ACSS2 ACYP2 AGK AGPS AKR1B1 ALDH1A3 AMACR ANXA5 ANXA7 APRT ART1 ATP6AP2 ATP6V0A2 ATRN B4GALT5 BCAN BDH1 CACNA2D3 CALR CAT CD109 CD44 CD48 CD74 CD93 CDH13 CEACAM5 CERS1 CHI3L1 CHKA CHPF CHPT1 CHSY3 CLC CLEC5A CNTFR CNTN1 CNTN2 COL9A2 CSPG4 CYP17A1 CYP19A1 CYP1A1 CYP1B1 CYP27B1 CYP2B6 CYP2C9 CYP2E1 CYP2J2 DAG1 DBT DCN DCTD DHCR24 DHDDS DPEP1 EBP EFNA1 ELOVL2 ENO1 ENOSF1 EXT1 FASN FBP1 FBXO17 FIG4 FMOD FUT4 G6PD GAD1 GAL3ST1 GALNT2 GALNT7 GAPDH GAS1 GLB1 GLDC GLO1 GLUL GOLPH3 GPC1 GPC5 GPD1 GPD2 GPI GPIHBP1 GPNMB GPX1 HAS2 HEXA HEXB HK1 HK2 HMMR HPGDS HPSE HSPG2 HYAL1 HYAL2 HYAL3 ICAM1 IDH1 IDH2 IL18R1 IMPA1 ISYNA1 ITPKA KHK KLRK1 L1CAM LAYN LDHA LGALS1 LGALS3 LGALS9 LPL LSS LYZ MAG MBD4 MBL2 ME1 MELTF MGAT1 MGAT5 MICA MMUT MPG MPI MRC1 MSLN MTAP MTMR3 MUTYH NAMPT NANS NT5E OPCML OXCT1 PARP1 PDIA3 PFKFB4 PGAM1 PGK1 PIK3C2B PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKD2 PKM PLA2G4C PLA2G5 PLAUR PLCB1 PLCG1 PLD1 PLD2 PLEKHA8 PLOD3 PNLIP PNPLA2 PRKAA2 PRNP PRSS8 PSAP PSMD10 PTEN PTGES PTGS1 PTGS2 QPRT RECK RTN4R SCD SDC1 SDC2 SDHC SDHD SEMA7A SGMS1 SGMS2 SHMT2 SIGLEC7 SIRT2 SIRT6 SLC2A3 SLC2A5 SLC35A1 SLC35A3 SLC37A4 SMPD1 SMUG1 SOAT1 SPHK1 SPHK2 SPTLC1 SRD5A1 SRGN ST6GAL1 ST6GALNAC5 ST8SIA1 STS SUCLG1 SULF2 THEM4 TIGAR TKT TKTL1 TM7SF2 TMED5 TNFRSF10C TPI1 TREH TUSC3 TYMP UGP2 UGT8 VCAM1 VCAN	100507436 1012 10135 10159 10232 10457 1048 10558 10559 10682 10715 10855 1116 11181 1119 11332 115290 117145 1178 1271 1272 1298 135228 142 143903 1462 1464 1543 1545 1555 1559 1571 1573 1586 1588 1594 1605 1629 1634 1635 1636 166929 1718 1800 1890 1942 2023 2131 2180 2181 2182 2194 220 2203 2262 22914 22918 22933 231 23205 23236 2331 23443 23475 23545 23583 23600 23601 2526 2539 2542 2571 2590 259230 2597 2619 27036 2720 27306 2731 2739 2752 2817 2819 2820 2821 2876 2923 3037 3073 3074 308 3098 3099 310 3161 3339 3373 337876 3383 338328 3417 3418 353 3612 3706 3795 38 3897 3939 3956 3958 3965 4023 4047 4069 4099 412 4153 417 4199 4241 4245 4249 4350 4351 4360 4507 4594 4595 4907 4978 5019 50999 51477 51548 51703 51809 5210 5223 5230 5287 5290 5291 5293 5294 5310 5311 5315 5322 5329 5335 5337 5338 5406 54187 54898 5552 55556 5563 55750 55799 55902 55959 5621 5652 5660 56848 56994 57103 57104 5716 5728 5742 5743 622 6319 6382 63827 6383 6391 6392 64083 6472 6480 6489 65078 6515 6518 6609 6646 6715 6900 7086 7108 7167 730249 7360 7368 7412 79586 7991 79947 811 81849 8277 8372 8434 8455 847 84725 8482 8540 8605 8692 8794 8802 8809 8877 8897 8930 8985 9334 9514 9536 960 962 972 98 9896	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:10603	glucose intolerance Aliases: Glucose malabsorption Malabsorption of glucose	ABO ACE ACOT7 ADH1C ALDH2 AMY2A APRT CAT CBR1 CD14 CERS6 CHI3L1 CLEC16A COMT COQ2 CYB5R4 CYP19A1 CYP1B1 DCN DDOST DGAT1 ENPP1 FCGR3B G6PC1 G6PC2 G6PD GAD1 GAD2 GBA1 GCK GGT1 HK2 HSD11B1 HSD11B2 ICAM1 IL1R1 INPPL1 L1CAM LEP LEPR LGALS3 LIPC LPIN1 LPL MBL2 MOGAT2 NAMPT NEIL1 NEU1 OGA OLR1 PGP PIK3CA PIK3CB PIK3CD PIK3CG PKM PLB1 PLCB1 PNPLA2 PNPLA3 PPP1R3A PRKAA2 PTGES2 RTN4R SCD SGPL1 SI SIRT2 SIRT6 SLC17A5 SLC2A2 SLC2A3 SLC2A4 SLC35A1 SLC5A1 SOAT1 SRGN UMOD VCAM1	10135 10559 10724 1116 11332 126 1312 151056 1545 1588 1634 1636 1650 217 2215 22933 23175 23236 23274 253782 2538 2539 2571 2572 2629 2645 26503 2678 27235 279 28 283871 3099 3290 3291 3383 353 3554 3636 3897 3952 3953 3958 3990 4023 4153 4758 4973 51167 51548 5167 5290 5291 5293 5294 5315 5506 5552 5563 57104 57818 6319 6476 65078 6514 6515 6517 6523 6646 7369 7412 79661 80142 80168 80339 847 8694 873 8879 929	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:4682	extrahepatic bile duct carcinoma Aliases: carcinoma of extrahepatic bile duct extrahepatic bile duct cancer	HK2 PIK3CA PTEN PTGS2	3099 5290 5728 5743	Homo sapiens (human)	DisGeNET DisGeNET
DOID:3192	neurilemmoma Aliases: Psammomatous schwannoma schwannoma	ARSA B3GAT1 CAT CD38 CD44 CEACAM5 CHSY1 CYP2E1 DCN G6PD HMMR IL1R1 LGALS1 NCAM1 PARP1 PARP2 PIK3CA PIK3CB PIK3CD PIK3CG PRNP PTEN PTGS2 RECK SIGLEC7 SMUG1 SOAT1 STS TMEM165 VCAN	10038 1048 142 1462 1571 1634 22856 23583 2539 27036 27087 3161 3554 3956 410 412 4684 5290 5291 5293 5294 55858 5621 5728 5743 6646 8434 847 952 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0111258	pentosuria Aliases: L-xylulose reductase deficiency L-xylulosuria PNTSU essential pentosuria xylitol dehydrogenase deficiency	DCXR	51181	Homo sapiens (human)	DisGeNET Alliance of Genome Resources

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