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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 **5576 - 5600** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:2691	myoma Aliases: benign neoplasm of the Muscle	CYP19A1 CYP2B6 HPSE	10855 1555 1588	Homo sapiens (human)	DisGeNET
DOID:0080379	nephrotic syndrome type 2 Aliases: steroid-resistant autosomal recessive nephrotic syndrome	ACE ANXA5 FCGR3B PLA2G7 PLCE1	1636 2215 308 51196 7941	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:0110186	Charcot-Marie-Tooth disease type 4D Aliases: CMT4D Charcot-Marie-Tooth neuropathy type 4D HMSN Lom type HMSN-Lom HMSN4D HMSNL autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4D hereditary motor and sensory neuropathy LOM type	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:0060670	cerebral cavernous malformation 2	SMUG1	23583	Homo sapiens (human)	DisGeNET
DOID:8616	Peyronie's disease Aliases: Induratio penis plastica Peyronie disease Peyronie's Fibromatosis	DCN LIPA PARP1	142 1634 3988	Homo sapiens (human)	DisGeNET
DOID:3620	central nervous system cancer Aliases: CNS neoplasm central nervous system tumor central nervous system tumors malignant neoplasm of central nervous system malignant tumor of CNS neoplasm of central nervous system	ACAT1 ACE ACOD1 ACOT7 ACSBG1 ACSL1 ACSL3 ACSL4 ACSL5 ACSS2 ACYP2 AGK AGPS AKR1B1 ALDH1A3 AMACR ANXA5 ANXA7 APRT ART1 ATP6AP2 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 DHCR24 DHDDS DPEP1 EBP EFNA1 ELOVL2 ENO1 ENOSF1 EXT1 FASN FBP1 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 LDHA LGALS1 LGALS3 LGALS9 LPL LSS LYZ MAG MBD4 MBL2 ME1 MELTF MGAT1 MGAT5 MICA MMUT MPG MPI MRC1 MTAP MTMR3 MUTYH NAMPT NANS NT5E OPCML OXCT1 PARP1 PDIA3 PFKFB4 PGAM1 PGK1 PIK3C2B PIK3C3 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 RECK RTN4R SCD SDC1 SDC2 SDHB 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 SUCLG1 SULF2 THEM4 TIGAR TKT TKTL1 TM7SF2 TMED5 TNFRSF10C TPI1 TREH TUSC3 TYMP UGP2 UGT8 VCAM1 VCAN	100507436 1012 10135 10159 10457 1048 10558 10559 10682 10715 10855 1116 11181 1119 11332 117145 1178 1271 1272 1298 135228 142 1462 1464 1543 1545 1555 1559 1571 1573 1586 1588 1594 1605 1629 1634 1636 166929 1718 1800 1890 1942 2023 2131 2180 2181 2182 2194 220 2203 2262 22914 22918 22933 231 23205 23236 2331 23443 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 4153 417 4199 4241 4245 4249 4350 4351 4360 4507 4594 4595 4907 4978 5019 50999 51477 51548 51703 51809 5210 5223 5230 5287 5289 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 6390 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	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0090130	cortical dysplasia-focal epilepsy syndrome Aliases: CDFE syndrome CDFES PTHSL1 Pitt-Hopkins-like syndrome-1	ATP6V0A2 ATP6V1A B3GALNT2 B4GAT1 CRPPA DAG1 DHCR24 DLST FIG4 FKRP FKTN LARGE1 NSDHL PAFAH1B1 PIGP PIGQ POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1 TMTC3	10329 10585 11041 148789 160418 1605 1718 1743 2218 23545 29954 5048 50814 51227 523 55624 729920 79147 84197 84892 9091 9215 9896	Homo sapiens (human)	DisGeNET
DOID:0080144	childhood acute lymphocytic leukemia Aliases: Childhood Acute Lymphoblastic Leukemia	ABO ACACA ACSS2 AKR1B1 AKR1C3 ALPI ALPP ANXA5 APRT B3GAT1 CALR CAT CD14 CD22 CD33 CD38 CD44 CD48 CD55 CD72 CEACAM6 CEL CERS6 CHI3L1 CNTFR CYP1A1 CYP1A2 CYP1B1 CYP2B6 CYP2C8 CYP2E1 CYP3A4 CYP3A5 CYP4F3 ENO2 EXT1 FADS1 FH FUT4 G6PD GAD1 GCNT2 GGT1 HK1 HPGDS HPRT1 HSD11B2 ICAM1 IDH1 IDH2 IGF2R IL18R1 IL1RL1 LIPA LSS MAN2A1 MTAP MUTYH NAAA NAMPT NCAM1 NT5E OGG1 PARP1 PARP9 PFKFB2 PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2A PLA2G15 PNP PRKAA2 PRPS1 PTEN PTGES3 PTGS2 SELE SFTPD SHMT1 SLC27A5 SOAT1 SPHK2 SRD5A2 UGT1A6 UMOD UNG	10135 1056 10728 10998 1116 1271 142 1543 1544 1545 1555 1558 1571 1576 1577 1604 2026 2131 2271 231 23659 248 250 2526 253782 2539 2571 2651 2678 27087 27163 27306 28 308 3098 31 3251 3291 3383 3417 3418 3482 353 3988 3992 4047 4051 4124 4507 4595 4680 4684 4860 4907 4968 5208 5290 5291 5293 5294 5305 54578 5563 55902 5631 56848 5728 5743 6401 6441 6470 6646 6716 7369 7374 811 83666 847 8644 8809 9173 929 933 945 952 960 962 971	Homo sapiens (human)	DisGeNET
DOID:0080365	endometrial hyperplasia	AKR1C1 AKR1C3 CHST3 COMT CYP11A1 CYP17A1 CYP19A1 CYP1A1 HSD17B7 MRC1 PIK3CA PKM PNPLA2 PTEN PTGS2 STS SULT1E1 TFF1	1312 1543 1583 1586 1588 1645 412 4360 51478 5290 5315 57104 5728 5743 6783 7031 8644 9469	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0110298	autosomal recessive limb-girdle muscular dystrophy type 2N Aliases: LGMD2N muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2 muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related	ACAN ACE ACHE AGK AGL ALDH7A1 ALOX12 ALPP APRT ATRNL1 B3GALNT2 B4GALNT2 B4GAT1 CD44 CHKA CHKB CRPPA CTNS DAG1 DCN DPEP1 DPM1 DPM2 DPM3 ENO1 FKRP FKTN GAA GK GLB1 GMPPB GNE HACD1 HPGDS HSPG2 IDH2 IMPA1 INPP5B INPP5K LARGE1 LARGE2 LGALS3 MBL2 MGAM PARP1 PIK3C2A PMM2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRG2 PRKAA2 PYGM RGN RXYLT1 SDC2 SI SIRT2 SLC3A1 ST3GAL4 SYNJ1 SYNJ2	10020 10329 10585 11041 1119 1120 120071 124872 142 148789 1497 1605 1634 1636 176 178 1800 2023 2218 22933 239 250 2548 26033 2710 2720 27306 29925 29954 3339 3418 353 3612 3633 3958 4153 43 501 51763 5286 5373 54344 5553 55624 5563 55750 56983 5837 6383 6476 6484 6519 729920 79147 84197 84892 8813 8818 8867 8871 8972 9104 9200 9215 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:184	bone cancer Aliases: CA - bone cancer bone neoplasm bone tumour malignant bone neoplasm malignant bone tumour malignant neoplasm of bone malignant osseous tumor neoplasm of bone osseous tumor	ACE ALPP ATRNL1 CD38 CDH13 CYP1A1 DPEP1 EXT1 EXT2 FASN HPGDS ICAM1 IDH1 IDH2 MGLL MTAP NANS PIK3CA PIK3CB PIK3CD PIK3CG PTGS2 SDC2 SMC3 SMUG1	1012 11343 1543 1636 1800 2131 2132 2194 23583 250 26033 27306 3383 3417 3418 4507 5290 5291 5293 5294 54187 5743 6383 9126 952	Homo sapiens (human)	DisGeNET DisGeNET
DOID:13948	bladder neck obstruction Aliases: Obstruction of bladder neck or vesicourethral orifice	CYP19A1 DCN HTR2A PTEN PTGS2	1588 1634 3356 5728 5743	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:1993	rectum cancer Aliases: carcinoma of rectum carcinoma of the rectum malignant Rectal tumor malignant neoplasm of rectum malignant rectum tumor malignant tumor of rectum rectal cancer	ABO ACAT1 ACE ACSS2 ALDH2 ALDH7A1 ALDOB ALOX12 ALOX15 ARSA ASAH1 CALR CD44 CEACAM5 CEACAM7 CERS4 CERS5 CHI3L1 CHPT1 COMT CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP24A1 CYP2E1 DHCR24 DHDDS EXT1 FH GPX2 GPX3 HMGCS2 HPGDS HSD17B2 MAPK14 MICA MRC1 MUTYH NT5E NTHL1 OGG1 PARP1 PCK2 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PLA2G4A PNPLA2 PTEN PTGS1 PTGS2 RENBP SDHA SDHC SMUG1 TDG TKT TKTL1 TYMP UGT1A1 UMPS	100507436 1048 1087 1116 1312 142 1432 1543 1544 1571 1586 1588 1591 1636 1718 1890 2131 217 2271 229 23583 23659 239 246 27306 28 2877 2878 3158 3294 38 410 427 4360 4595 4907 4913 4968 501 5106 5290 5291 5293 5294 5321 54658 55902 56994 57104 5728 5742 5743 5973 6389 6391 6996 7086 7372 79603 79947 811 8277 91012 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:9252	amino acid metabolic disorder Aliases: inborn errors of amino acid metabolism	ALDH6A1 GCSH GLUL HMGCL PCCA PCCB	2653 2752 3155 4329 5095 5096	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0110434	dilated cardiomyopathy 1Z Aliases: CMD1Z	ACADVL ACE BDH1 CHKB CPT2 DAG1 DOLK FASN FKRP FKTN GLB1 GPX1 HACD1 HADH HADHA HADHB HJV HMGCL HPRT1 LDHA LGALS3 LPL MDH1 MICA MTM1 NAMPT NCAM1 NDUFAB1 PCYT1A PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G7 POMT2 RENBP SDHA SDHD SLC2A10 SLC2A4	100507436 10135 1120 1376 148738 1605 1636 2194 2218 22845 2720 2876 29954 3030 3032 3033 3155 3251 37 3939 3958 4023 4190 4534 4684 4706 5130 5236 5290 5291 5293 5294 5973 622 6389 6392 6517 79147 7941 81031 9200	Homo sapiens (human)	DisGeNET
DOID:0050133	superficial mycosis Aliases: Steroid-modified tinea infection piedra	ABO ATP6V1A CAT CD14 CD209 CLEC1A CLEC6A CLEC7A CYP2C19 CYP51A1 LGALS1 MBL2 MRC1	1557 1595 28 30835 3956 4153 4360 51267 523 64581 847 929 93978	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0080178	mucositis	PCNA PTGS2	5111 5743	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0050573	2-hydroxyglutaric aciduria	IDH1 IDH2 L2HGDH SLC25A1	3417 3418 6576 79944	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0060718	autosomal recessive congenital ichthyosis 9 Aliases: ARCI9	ALDH3A2 ALOX12B CERS3 COG7 GBA1 STS SULT2B1	204219 224 242 2629 412 6820 91949	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:1287	cardiovascular system disease Aliases: disease of subdivision of hemolymphoid system	ABO ACACA ACAN ACAT1 ACE ACHE ACLY ACOX2 ACSM3 ACSS2 ADH1B ADH1C ADIPOQ AKR1A1 AKR1B1 ALDH2 ALDH7A1 ALG9 ALOX12 ALOX5 ALPP AMACR ANXA5 ANXA7 APRT ARSA ARSD ARSI ATP6AP2 ATRNL1 C1GALT1 CALR CAT CD14 CD38 CD44 CD74 CDH13 CEACAM5 CERS2 CFC1 CHI3L1 CHST3 COG2 COL9A2 COMT CYP11B1 CYP11B2 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP27A1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP2J2 CYP3A5 CYP4F2 CYP4F3 CYP7A1 DBT DCN DEGS1 DGKE DHCR7 DPEP1 DSE EFNA5 ENO1 ENPP1 EPHX2 FADS1 FADS2 FCGR3B FDFT1 FREM1 FUT2 G6PD GAD1 GAL3ST1 GALNS GCK GGT1 GHRL GLA GLUL GML GNPDA2 GPC6 GPIHBP1 GPX1 GPX3 GYS1 H6PD HADHB HPGDS HPSE HSD11B1 HSD11B2 HSD17B12 ICAM1 IDH2 IGF2R IL18R1 IL18RAP IL1R1 IL1RAPL1 IL1RL1 IMPA1 INPP5K KHK KL LCAT LGALS1 LGALS2 LGALS3 LIPA LIPC LIPG LPIN1 LPL LTA4H LTC4S MACROD1 MASP1 MBL2 MBOAT7 MGAM MGAT1 MGLL MICA MPI MRC1 NAAA NAGLU NAMPT NT5E OGA OGG1 OGT OLR1 PARP1 PC PIK3CA PIK3CB PIK3CD PIK3CG PLA2G10 PLA2G15 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLA2G7 PLAUR PLB1 PLCB1 PLCE1 PLPP3 PMM2 PNPLA2 PNPLA3 PPARGC1A PRKAA2 PTGDS PTGIS PTGS1 PTGS2 RENBP RPE SCD SELE SELP SFTPA1 SFTPA2 SFTPD SHMT1 SI SIRT2 SIRT6 SLC17A5 SLC2A2 SLC2A4 SLC33A1 SLC35A1 SLC35E3 SLC5A1 SMUG1 SOAT1 SPHK2 SULT1E1 TBXAS1 TECR TM7SF2 TYMP UGT1A1 UGT1A6 UGT2B7 UMOD VCAM1 VCAN VNN1	100507436 10082 1012 10135 10159 10327 1048 10559 10724 10855 10891 11141 1116 11343 125 126 1298 1312 132789 142 1462 151056 1543 1544 1545 1555 1557 1559 1571 1573 1577 1581 158326 1584 1585 1588 1593 1629 1634 1636 1717 176 1800 1890 1946 2023 2053 217 2215 2222 22796 22933 231 23175 23236 23583 23600 23659 239 240 250 2524 2539 2571 2588 26033 2645 26503 2678 27163 2717 27306 2752 2765 28 2876 2878 28992 29940 29956 2997 3032 308 31 310 3290 3291 3383 338328 340075 3418 3482 353 3554 3612 3795 38 3931 3956 3957 3958 3988 3990 3992 4023 4048 4051 4056 410 414 4153 4245 43 4351 4360 4669 47 4907 4968 4973 501 5091 51144 51196 51548 5167 51738 51763 5290 5291 5293 5294 5319 5320 5321 5329 5373 54578 54658 55508 5563 55902 55997 5648 56848 56913 57104 5730 5740 5742 5743 5973 6120 6296 6319 6401 6403 6441 6470 6476 6514 6517 6523 653509 6646 6783 6916 7108 729238 7364 7369 7412 79143 7941 79796 80339 811 8309 8398 8399 847 8473 8526 8529 8560 8613 8807 8809 8876 8972 9173 9197 929 9365 9370 9388 9415 9469 9514 952 9524 9563 960 972	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0110193	Charcot-Marie-Tooth disease type 4F Aliases: CMT4F	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:285	hairy cell leukemia	ACSBG1 ANXA5 B3GAT1 CD1D CD22 CD44 CYP19A1 ENPP1 GPX1 HEXB NCAM1 NDUFAB1 PIK3CA PIK3CB PIK3CD PIK3CG SMUG1	1588 23205 23583 27087 2876 3074 308 4684 4706 5167 5290 5291 5293 5294 912 933 960	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:3947	adrenal gland hyperfunction Aliases: Adrenocortical hyperfunction hyperadrenalism hypercortisolism	ACAT1 ACE AKR1B1 APRT CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP3A4 CYP4F3 FASN FH HSD11B1 HSD11B2 HSD3B1 HSD3B2 SMUG1	1576 1584 1585 1586 1588 1636 2194 2271 231 23583 3283 3284 3290 3291 353 38 4051	Homo sapiens (human)	DisGeNET DisGeNET
DOID:13014	shipyard eye Aliases: EKC Epidemic keratoconjunctivitis	PLD3	23646	Homo sapiens (human)	DisGeNET
DOID:8478	actinomycosis Aliases: Actinomycotic madura foot Actinomycotic mycetema Actinomycotic mycetoma of foot Madura foot due to Actinomadura actinomycotic infection	CAT	847	Homo sapiens (human)	DisGeNET

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