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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 **3226 - 3250** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:12145	detrusor sphincter dyssynergia	SIGLEC7	27036	Homo sapiens (human)	DisGeNET
DOID:0110581	autosomal dominant nonsyndromic deafness 56 Aliases: DFNA56 autosomal dominant deafness 56	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:10824	malignant hypertension	ACE CYP17A1 CYP1A1 SLC33A1	1543 1586 1636 9197	Homo sapiens (human)	DisGeNET
DOID:0050783	secondary progressive multiple sclerosis Aliases: SPMS Secondary-progressive MS	LGALS3 RGMA SOAT1	3958 56963 6646	Homo sapiens (human)	DisGeNET
DOID:0112152	CHIME syndrome Aliases: PIGL-CDG Zunich neuroectodermal syndrome Zunich-Kaye syndrome coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome congenital disorder of glycosylation due to PIGL deficiency neuroectodermal dysplasia, CHIME type neuroectodermal syndrome, Zunich type	PIGL	9487	Homo sapiens (human)	Alliance of Genome Resources
DOID:13593	eclampsia Aliases: Eclampsia in puerperium Eclampsia, postpartum Postpartum eclampsia	ABO ACE ADH5 ANXA5 ATP6AP2 CALR CD14 COMT CYP11B2 CYP2C9 DGKI HSD11B2 IL18R1 KLRB1 LPL MBL2 PTGS1 PTGS2 SORD	10159 128 1312 1559 1585 1636 28 308 3291 3820 4023 4153 5742 5743 6652 811 8809 9162 929	Homo sapiens (human)	DisGeNET
DOID:0110591	autosomal dominant nonsyndromic deafness 7 Aliases: DFNA7 autosomal dominant deafness 7	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:12271	aniridia Aliases: Aplasia of iris isolated aniridia	ADH7 ARSD CAT CYP1B1 DLST FH GPC3 LDHD MDH2 SDHA SDHB SDHC SDHD	131 1545 1743 197257 2271 2719 414 4191 6389 6390 6391 6392 847	Homo sapiens (human)	DisGeNET
DOID:3443	mammary Paget's disease Aliases: Paget cell neoplasm Paget's disease Paget's disease of the breast mammary Paget disease	CEACAM5 NEU1 PIGN	1048 23556 4758	Homo sapiens (human)	DisGeNET
DOID:0080573	congenital disorder of glycosylation Ix Aliases: congenital disorder of glycosylation 1x	STT3B	201595	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:5434	scrapie	PRNP	5621	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0050539	Charcot-Marie-Tooth disease type 2 Aliases: hereditary motor and sensory neuropathy Guadalajara neuronal type hereditary motor and sensory neuropathy Okinawa type hereditary motor and sensory neuropathy type 2	ACE AMACR ARSA CANX CD44 DGAT2 FIG4 GBA1 HADHB HK1 LCAT MAG MTM1 MTMR2 PGK1 PGM1 PRNP PRPS1 SIGLEC7 SPTLC1 SPTLC2	10558 1636 23600 2629 27036 3032 3098 3931 4099 410 4534 5230 5236 5621 5631 821 84649 8898 9517 960 9896	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:5656	cranial nerve disease Aliases: Cranial nerve disorder disorder of cranial nerve	EXT1 EXT2 IDH1 IDH2 PTEN SDHB SDHC SDHD	2131 2132 3417 3418 5728 6390 6391 6392	Homo sapiens (human)	DisGeNET
DOID:4398	pustulosis of palm and sole Aliases: Acropustulosis Palmoplantar Pustulosis Pustular psoriasis of the palms and/or soles	ACACA ACE ACO1 ACOT8 ADH1B AKR1B10 AKR1C1 AKR1C3 ALDH2 ALOX12 ALOX15 ALOX15B APRT B3GNT2 B3GNTL1 BST2 CAT CD14 CD1D CD38 CD93 CDH13 CHI3L1 CHST8 CLC CLEC16A CLEC7A CNTN3 COG6 COMT CS CYP1A1 CYP24A1 CYP27A1 CYP27B1 CYP2B6 CYP2C19 CYP2E1 CYP3A4 DAG1 DLAT ELOVL6 FAM20B FCGR3B FCN2 FUT2 GAL3ST2 GAPDH GPX1 HPGDS HPSE ICAM1 ICAM5 IL18R1 IL1R1 IL1RAP IL1RL2 IPMK ISYNA1 ITLN1 KLRC1 LGALS1 LGALS3 LYNX1 LYZ MASP2 MBL2 MGAT5 MICA MRC1 MSMO1 NAGLU NANS NCAM1 NT5E OLR1 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLA2G10 PLA2G1B PLA2G2A PLA2G7 PLB1 PLCD1 PSAP PTEN PTGS1 QTRT1 RENBP SDC1 SELE SELP SFTPD SLC17A5 SMUG1 SOAT1 SPHK1 SPHK2 SPTLC2 ST6GAL1 STS SULF2 TNF UGT8 VCAM1 VNN1 VNN2 YDJC	10005 100507436 1012 10678 10747 10855 1116 1178 125 1312 142 1431 146712 150223 151056 1543 1555 1557 1571 1576 1591 1593 1594 1605 1636 1645 1737 217 2215 2220 22918 23274 23583 239 246 247 2524 253430 2597 26503 27306 2876 31 3383 353 3554 3556 3821 3956 3958 4069 412 4153 4249 4360 4669 4684 48 4907 4973 5067 51477 5290 5291 5293 5294 5310 5319 5320 5333 54187 55600 55959 5660 56848 57016 5728 5742 57511 5973 6307 6382 6401 6403 64090 64377 6441 64581 6480 66004 6646 684 7087 7124 7368 7412 79071 7941 81890 8399 847 8644 8808 8809 8875 8876 8877 912 929 9517 952 9917	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:0070298	multiple epiphyseal dysplasia 2 Aliases: EDM2	COL9A2	1298	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0090054	episodic kinesigenic dyskinesia 2	COMT	1312	Homo sapiens (human)	DisGeNET
DOID:9415	allergic asthma Aliases: extrinsic asthma with acute exacerbation extrinsic asthma with status asthmaticus	ABO ACAA1 ACE ACHE ACOT7 ACSL3 ADH1B ADH5 AGXT AKR1B1 ALDH2 ALDH3A1 ALDH3A2 ALDH7A1 ALOX15 ALOX15B ALOX5 ALPL ANXA4 ANXA5 APRT ARSA ATRN ATRNL1 B3GAT1 BST1 CAT CD14 CD1D CD33 CD38 CD44 CD48 CD93 CDH13 CEACAM5 CEACAM6 CEL CHAT CHI3L1 CHIA CHIT1 CHST8 CLC CLEC10A CLEC16A CLEC4E CLEC7A COG6 COL9A2 COLEC10 COMT CRYBG1 CTSA CYP11A1 CYP1A1 CYP1A2 CYP1B1 CYP24A1 CYP27A1 CYP27B1 CYP2B6 CYP2C19 CYP2C8 CYP2E1 CYP2J2 CYP2R1 CYP3A4 CYP3A5 CYP3A7 CYP4F3 DAD1 DAG1 DCN DGKB DGKE DGKG DGKH EBP EFNA1 ENO1 ENO2 ENPP1 FADS1 FADS2 FCER2 FCGR3B FUT2 G6PD GALNT17 GAPDH GAS1 GBA3 GFRA4 GGT1 GLA GLB1 GLDC GLT1D1 GNPDA2 GPX1 GPX3 HACD1 HAS2 HEXB HPGDS HPSE2 HSD11B2 ICAM1 IDS IL18R1 IL18RAP IL1R1 IL1RAPL1 IL1RL1 INPP4A ISYNA1 ITLN1 ITPKA KLRB1 KLRD1 LCT LGALS1 LGALS3 LGALS9 LIPA LIPG LPCAT1 LPCAT3 LPIN2 LTA4H LTC4S LYNX1 MANBA MBL2 MRC1 NT5E OGG1 ORMDL1 ORMDL2 OTOG PAFAH1B1 PARP14 PARP1 PARP9 PC PDIA3 PGAP3 PGD PGM3 PGP PIGX PIK3CA PIK3CB PIK3CD PIK3CG PIP5K1B PLA2G10 PLA2G1B PLA2G2A PLA2G4A PLA2G4C PLA2G6 PLA2G7 PLA2R1 PLAUR PLB1 PLCG1 PLD1 PNPLA3 PRG2 PRNP PSAP PTEN PTGDS PTGES PTGS1 PTGS2 RGMB SCD SDC4 SDHD SELE SELL SELP SFTPA1 SFTPA2 SFTPC SFTPD SIGLEC1 SIGLEC8 SIGLEC9 SIRT2 SIRT6 SLC17A5 SLC27A5 SLC2A10 SLC33A1 SMC3 SMPD1 SOAT1 ST6GAL1 STS TALDO1 TBXAS1 TM7SF2 TMTC2 TPI1 UGT1A1 UGT1A3 UGT1A6 VCAM1 VNN1	1012 10162 10462 1048 1056 10584 10682 10998 1103 11141 1116 1118 11332 1178 120227 125 128 1298 1312 132789 142 144423 151056 1543 1544 1545 1551 1555 1557 1558 1571 1573 1576 1577 1583 1591 1593 1594 1603 160335 1605 1607 1608 160851 1634 1636 189 1942 202 2023 2026 217 218 2181 2208 2215 224 22918 22925 22933 231 23274 240 246 247 249 2524 2539 2597 26033 2619 26253 26503 2678 27087 27159 2717 27180 27181 2720 27306 2731 28 283871 285704 2876 2878 29095 2923 30 3037 307 3074 308 3291 3383 340990 3423 353 3554 3631 3706 3820 3824 3938 3956 3958 3965 3988 3992 4048 4051 4056 410 412 4126 4153 43 4360 4680 4907 4968 501 5048 5091 51477 51548 5167 5226 5238 5290 5291 5293 5294 5319 5320 5321 5329 5335 5337 54578 54625 54658 54659 5476 54965 5553 55600 5621 5660 5728 5730 5742 5743 57511 57733 60495 6319 6385 6392 6401 6402 6403 64096 64377 6440 64409 6441 64581 6480 653509 66004 6609 6614 6646 683 6888 6916 7108 7167 729238 7412 7941 79888 80339 81031 83666 8395 8398 8399 8455 847 8526 8605 8807 8809 8876 912 9126 9173 9197 9200 929 93210 9388 94101 9415 945 952 9536 960 962 9663	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0110279	autosomal recessive limb-girdle muscular dystrophy type 2E Aliases: Beta-sarcoglycanopathy LGMD2E Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency muscular dystrophy, limb-girdle, type 2E	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
DOID:0080155	very long chain acyl-CoA dehydrogenase deficiency Aliases: VLCAD deficiency	ACADL ACADVL CHPT1 CPT1A CPT1B CPT2 LPIN1	1374 1375 1376 23175 33 37 56994	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:5826	breast lymphoma Aliases: Lymphoma of the breast lymphoma of breast malignant lymphoma of breast	HPSE SMUG1	10855 23583	Homo sapiens (human)	DisGeNET
DOID:321	tropical spastic paraparesis Aliases: HTLV-associated myelopathy Tropical spastic paralysis Tropical spastic paraplegia	ACAN CNTN2 HPRT1 KLRC1 KLRD1 KLRK1 SELL	176 22914 3251 3821 3824 6402 6900	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:8503	impetigo herpetiformis	IL1RL2 LDHA	3939 8808	Homo sapiens (human)	DisGeNET
DOID:0060679	catecholaminergic polymorphic ventricular tachycardia 5 Aliases: CVPT5	ACADVL ACE CALR CHPT1 FKRP FUT1 GOLPH3 GYG1 PTGS2 SCD	1636 2523 2992 37 56994 5743 6319 64083 79147 811	Homo sapiens (human)	DisGeNET
DOID:0080468	developmental and epileptic encephalopathy 1 Aliases: DEE1 X-linked infantile spasm syndrome 1 early infantile epileptic encephalopathy 1	CACNA2D2 PIGP PIGQ PLCB1 SMUG1 SYNJ1	23236 23583 51227 8867 9091 9254	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0060744	Pendred Syndrome Aliases: TDH2B congenital hypothyroidism due to dyshormonogenesis 2B deafness with goiter genetic defect in thyroid hormonogenesis 2B goiter-deafness syndrome thyroid dyshormonogenesis 2B	ALDH7A1 PTGDS SLC26A2	1836 501 5730	Homo sapiens (human)	DisGeNET

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