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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 **4176 - 4200** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0110053	amelogenesis imperfecta type 4 Aliases: AI4 AIHHT amelogenesis imperfecta hypomaturation-hypoplastic type with taurodontism	AKR1C1 AKR1C2 MMP25 TMEM165	1645 1646 55858 64386	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0110153	Charcot-Marie-Tooth disease type 1E Aliases: CMT1E Charcot-Marie-Tooth disease and deafness Charcot-Marie-Tooth disease demyelinating type 1E Charcot-Marie-Tooth disease-deafness autosomal dominant Charcot-Marie-Tooth neuropathy and deafness	ACE AMACR ARSA CANX CAT CD44 CYP4F3 DGAT2 FIG4 GBA1 GPX2 HADHB HK1 HPSE LCAT LPIN1 MAG MTM1 MTMR2 PGK1 PGM1 PLCB4 PLCE1 PRNP PRPS1 PTGS2 SIGLEC7 SPTLC1 SPTLC2	10558 10855 1636 23175 23600 2629 27036 2877 3032 3098 3931 4051 4099 410 4534 51196 5230 5236 5332 5621 5631 5743 821 84649 847 8898 9517 960 9896	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
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)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0050083	Keshan disease	ACE CYP1A1 CYP2C19 GAPDH GPX1 ICAM1 IDH2 PARP1	142 1543 1557 1636 2597 2876 3383 3418	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:3070	high grade glioma Aliases: Neuroglial tumor glial cell tumor glioma, malignant malignant Neuroglial tumor malignant glioma	ABO ACACA ACACB ACAT1 ACE ACHE ACLY ACOD1 ACOT7 ACSBG1 ACSL1 ACSL3 ACSL4 ACSL5 ACSS2 ACYP2 ADH1A ADH1B ADH1C ADH4 ADH6 AGK AGPS AGXT AKR1A1 AKR1B10 AKR1B1 AKR1C3 AKT2 ALDH1A3 ALDH3A1 ALDH7A1 ALG2 ALOX5 ALPI ALPP AMACR ANXA5 ANXA7 APRT ARF4 ARSA ART1 ASAH1 ATP6AP2 ATP6V0A2 ATRN B3GAT1 B4GALNT1 B4GALT5 BAAT BAD BCAN BDH1 BDH2 BRAF BST2 CACNA2D3 CALR CANX CAT CBR1 CD109 CD22 CD248 CD33 CD38 CD44 CD48 CD55 CD74 CD93 CDH13 CDS1 CEACAM5 CEACAM7 CERS1 CERS2 CH25H CHI3L1 CHKA CHPF CHPT1 CHST15 CHSY1 CHSY3 CLC CLEC18B CLEC5A CMAS CNTFR CNTN1 CNTN2 CNTN3 COL9A2 CPT1A CPT1C CS CSPG4 CYP17A1 CYP19A1 CYP1A1 CYP1B1 CYP27A1 CYP27B1 CYP2B6 CYP2C9 CYP2E1 CYP2J2 CYP46A1 CYP4F3 DAG1 DBT DCN DCTD DEGS1 DGKA DGKI DGKZ DHCR24 DHDDS DLD DPEP1 EBP ECHS1 EFNA1 EFNA2 ELOVL2 ENO1 ENO2 ENOSF1 ENPP1 ENPP2 EXT1 FADS2 FASN FBP1 FBXO17 FCN2 FDFT1 FDPS FIG4 FKTN FMOD FUT4 G6PC1 G6PD GAD1 GAL3ST1 GALNT14 GALNT2 GALNT7 GAPDH GAS1 GFPT1 GLB1 GLDC GLO1 GLUL GML GOLPH3 GPC1 GPC5 GPD1 GPD2 GPI GPIHBP1 GPNMB GPX1 GPX3 HACD1 HAS2 HEXA HEXB HJV HK1 HK2 HMMR HPGDS HPSE HSD3B7 HSPG2 HYAL1 HYAL2 HYAL3 ICAM1 IDH1 IDH2 IDUA IL18R1 IL1R1 IMPA1 INPP5K INPPL1 ISYNA1 ITPKA KHK KL KLRK1 L1CAM L2HGDH LAYN LDHA LGALS1 LGALS3 LGALS4 LGALS8 LGALS9 LPL LSS LYZ MAG MAN2A1 MBD4 MBL2 MCAT ME1 ME2 MELTF MGAT1 MGAT5 MICA MMUT MPG MPI MRC1 MSLN MTAP MTMR3 MUTYH NAMPT NANS NCAM1 NDST1 NEU1 NEU3 NEU4 NT5E OCRL OLR1 OPCML OXCT1 PAFAH1B1 PARG PARP1 PARP3 PCYT1A PDIA3 PFKFB2 PFKFB3 PFKFB4 PFKM PGAM1 PGK1 PIK3C2B PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2A PKD1 PKD2 PKM PLA2G10 PLA2G2A PLA2G4A PLA2G4C PLA2G5 PLAUR PLB1 PLCB1 PLCG1 PLD1 PLD2 PLEKHA8 PLOD3 PLPP1 PLPP3 PNLIP PNP PNPLA2 POMGNT1 PPT1 PRKAA2 PRNP PRPS1 PRSS8 PSAP PSMD10 PTEN PTGDS PTGES PTGS1 PTGS2 QPRT RECK RTN4R SCD SDC1 SDC2 SDC4 SDHA SDHB SDHC SDHD SELP SEMA7A SGMS1 SGMS2 SGPL1 SHMT2 SIGLEC7 SIGLEC9 SIRT2 SIRT6 SLC2A3 SLC2A5 SLC35A1 SLC35A3 SLC35F1 SLC37A4 SLC3A1 SMPD1 SMUG1 SOAT1 SPHK1 SPHK2 SPTLC1 SRD5A1 SRGN ST6GAL1 ST6GALNAC5 ST8SIA1 ST8SIA2 ST8SIA4 STS SUCLG1 SULF1 SULF2 SULT1E1 SYNJ1 TDG THEM4 TIGAR TKT TKTL1 TM7SF2 TMED5 TNF TNFRSF10C TNKS TP53 TPI1 TREH TUSC3 TYMP UGCG UGDH UGP2 UGT8 UNG VCAM1 VCAN VNN2 VTCN1 XYLT1	10039 100507436 1012 10135 10159 10232 10327 1040 10457 1048 10558 10559 10682 10715 10825 10855 10858 1087 1116 11181 1119 11332 115290 117145 1178 124 125 126 126129 127 1271 1272 1298 129807 130 135228 1374 142 1431 143903 1462 1464 148738 151056 1543 1545 1555 1559 1571 1573 1586 1588 1593 1594 1604 1605 1606 1629 1634 1635 1636 166929 1718 1738 1800 189 1890 1892 1942 1943 2023 2026 208 2131 218 2180 2181 2182 2194 220 2203 2218 2220 2222 2224 222553 2262 22856 22914 22918 22933 231 23205 23213 23236 2331 23443 23475 23545 23583 23600 23601 240 248 250 2526 2538 2539 2542 2571 2583 2590 259230 2597 2619 2673 27036 27087 27180 2720 27306 2731 27349 2739 2752 2765 28 2817 2819 2820 2821 2876 2878 2923 29956 3037 3073 3074 308 3098 3099 31 310 3161 32 3339 3340 3373 337876 3383 338328 3417 3418 3425 353 3554 3612 3636 3706 378 3795 38 3897 3939 3956 3958 3960 3964 3965 4023 4047 4051 4069 4099 410 412 4124 4153 417 4199 4200 4241 4245 4249 427 43 4350 4351 4360 4507 4594 4595 4684 47 4758 4860 4907 4952 497190 4973 4978 501 5019 5048 5067 50999 5130 51363 51477 51548 5167 5168 51703 51763 51809 5208 5209 5210 5213 5223 5230 5287 5289 5290 5291 5293 5294 5305 5310 5311 5315 5320 5321 5322 5329 5335 5337 5338 5406 54187 54898 5538 5552 55556 55624 5563 55750 55799 55902 55907 55959 5621 5631 5652 5660 56848 56898 56994 570 57016 57103 57104 57124 5716 572 5728 5730 5742 5743 622 6319 6382 63827 6383 6385 6389 6390 6391 6392 6403 64083 64131 6472 6480 6489 65078 6515 6518 6519 6609 6646 6715 673 6783 684 6900 6996 7086 7108 7124 7157 7167 730249 7357 7358 7360 7368 7374 7412 7903 79586 79623 79679 7991 79944 79947 80270 811 8128 81849 821 8277 8372 8399 8434 8455 847 84725 8482 8505 8525 85365 8540 8560 8605 8611 8613 8644 8658 8692 873 8794 8802 8809 8867 8875 8877 8879 8897 8930 8985 9023 9162 9200 933 9334 9365 9415 945 9514 952 9536 960 962 972 98 9896	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0112219	developmental and epileptic encephalopathy 84 Aliases: DEE84 Jamuar syndrome early infantile epileptic encephalopathy 84	UGDH	7358	Homo sapiens (human)	Alliance of Genome Resources
DOID:3052	Balkan nephropathy Aliases: Balkan endemic nephropathy DEFN Danubian endemic familial nephropathy	CYP2B6 CYP3A5 HSPG2 IL1R1 LIPA	1555 1577 3339 3554 3988	Homo sapiens (human)	DisGeNET
DOID:4607	biliary tract cancer Aliases: malignant tumour of biliary tract	CD44 CEACAM5 CEACAM7 CYP17A1 CYP1A1 CYP2C19 IDH1 IDH2 MTAP NEU1 PIK3CA PIK3CB PIK3CD PIK3CG PPARD PTEN PTGS2 SMUG1 SPHK1 UGT1A1	1048 1087 1543 1557 1586 23583 3417 3418 4507 4758 5290 5291 5293 5294 54658 5467 5728 5743 8877 960	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:4776	rapidly progressive glomerulonephritis	ABO ACE CD44 DCN FCGR3B ICAM1 MRC1 VCAM1	1634 1636 2215 28 3383 4360 7412 960	Homo sapiens (human)	DisGeNET DisGeNET
DOID:1584	acute chest syndrome Aliases: acute chest syndrome in sickle cell disease	ABO ACACA ACACB ACE ACSL5 ACSL6 ACSS2 ALDH2 ALOX5 ARSA CD14 CD44 CHI3L1 CYP1A1 CYP2C19 CYP3A4 CYP3A5 ELOVL2 EPHX2 FADS1 FASN FCGR3B G6PD GALNT4 GCK HYAL2 ICAM1 L1CAM LCAT LGALS3 LIPA LIPG LPL OGG1 OLR1 PCYT1A PLA2G15 PLA2G2A PLA2G4A PLA2G6 PLA2G7 PLB1 PLCB4 PTGS1 PTGS2 SELE SELL SELP SLC39A8 SMUG1 VCAM1	1116 151056 1543 1557 1576 1577 1636 2053 217 2194 2215 23305 23583 23659 240 2539 2645 28 31 32 3383 3897 3931 3958 3988 3992 4023 410 4968 4973 5130 51703 5320 5321 5332 54898 55902 5742 5743 6401 6402 6403 64116 7412 7941 8398 8692 8693 929 9388 960	Homo sapiens (human)	DisGeNET
DOID:0111130	focal segmental glomerulosclerosis 5 Aliases: FSGS5	ACE	1636	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:2449	acromegaly	ACE ALPP ATRNL1 CALR CYP11B2 DGCR2 HSD11B1 KL LGALS3 LPL NAMPT RENBP	10135 1585 1636 250 26033 3290 3958 4023 5973 811 9365 9993	Homo sapiens (human)	DisGeNET
DOID:0050588	muscular dystrophy-dystroglycanopathy type B1 Aliases: CMD due to dystroglycanopathy Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1	ACACA ACHE ALDH2 B3GALNT2 B4GAT1 CD38 CHKB CNTN1 CRPPA DAG1 FKRP FKTN GBE1 GMPPB HACD1 HK1 INPP5K LARGE1 MTM1 MTMR14 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRKAA2 RXYLT1	10329 10585 11041 1120 1272 148789 1605 217 2218 2632 29925 29954 3098 31 43 4534 51763 55624 5563 64419 729920 79147 84197 84892 9200 9215 952	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:12934	Kearns-Sayre syndrome	MAG SGSH	4099 6448	Homo sapiens (human)	DisGeNET
DOID:12148	alveolar echinococcosis Aliases: Multilocular hydatid alveolococcosis small fox tapeworm	KLRK1 MICA SMUG1 TLR2	100507436 22914 23583 7097	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0110937	autosomal dominant osteopetrosis 1 Aliases: OPTA1 autosomal dominant osteopetrosis type 1	LRP5	4041	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110780	hereditary spastic paraplegia 29 Aliases: SPG29 autosomal dominant spastic paraplegia 29	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)	DisGeNET
DOID:3042	allergic contact dermatitis	ACE CD1D CNTN3 CYP1A1 ELOVL6 FCGR3B HSD11B1 MRC1 NAMPT SDC1 SELE SLC2A3 ST6GAL1 TLR4 UPP1	10135 1543 1636 2215 3290 4360 5067 6382 6401 6480 6515 7099 7378 79071 912	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:1759	American histoplasmosis	ATP6V1A LGALS1	3956 523	Homo sapiens (human)	DisGeNET
DOID:0090101	lethal congenital glycogen storage disease of heart Aliases: fatal congenital hypertrophic cardiomyopathy due to GSD fatal congenital hypertrophic cardiomyopathy due to glycogenosis fatal congenital nonlysosomal cardiac glycogenosis phosphorylase kinase deficiency of heart	PRKAG2 PRKAG3	51422 53632	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111953	immunodeficiency 23 Aliases: CID due to PGM3 deficiency IMD23 PGM3-CDG PGM3-related congenital disorder of glycosylation combined immunodeficiency due to PGM3 deficiency	PGM3	5238	Homo sapiens (human)	Alliance of Genome Resources
DOID:2768	transient tic disorder	CD44 ENO2	2026 960	Homo sapiens (human)	DisGeNET
DOID:14497	Wolman disease Aliases: Acid esterase deficiency Acid lipase deficiency Wolman xanthomatosis Wolman's disease Wolman's or triglyceride storage type III disease Xanthomatosis, familial acute infantile lysosomal acid lipase deficiency complete LAL deficiency complete LIPA deficiency complete cholesterol ester hydrolase deficiency complete lysosomal acid lipase deficiency	ASAH1 CAT CEL CHIT1 CYP27A1 FADS2 GALC GBA1 GDPD3 LIPA LIPF LPL LSS NCAM1 SCD SFTPD SLC2A3 SOAT2	1056 1118 1593 2581 2629 3988 4023 4047 427 4684 6319 6441 6515 79153 8435 847 8513 9415	Homo sapiens (human)	Glyco-Disease Genes Database DisGeNET DisGeNET Alliance of Genome Resources
DOID:0050785	progressive relapsing multiple sclerosis Aliases: PRMS Progressive-relapsing MS	LGALS3 RGMA SOAT1	3958 56963 6646	Homo sapiens (human)	DisGeNET
DOID:0050830	peripheral artery disease	ABO ACE ACOD1 ACSS2 ADIPOQ ALDH7A1 ARSA CD14 CHI3L1 CNTN3 CS CYP1A2 CYP2B6 ENPP1 IL1RL1 LGALS3 LIPC LPL NPY1R PCYT1A PLA2G15 PLA2G7 PTGS1 PTGS2 SELP SFTPD SLC2A10 SRD5A1 SRD5A2 SULT1E1 UGDH UGT1A1 VCAM1	1116 1431 1544 1555 1636 23659 28 3958 3990 4023 410 4886 501 5067 5130 5167 54658 55902 5742 5743 6403 6441 6715 6716 6783 730249 7358 7412 7941 81031 9173 929 9370	Homo sapiens (human)	DisGeNET Alliance of Genome Resources

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