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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 **4601 - 4625** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:718	autoimmune hemolytic anemia Aliases: Autoimmune haemolytic anaemia autoimmune hemolytic anaemia	ABO ANXA5 B3GAT1 CD48 CD55 FCGR3B HMMR LYPLA1 MBL2 OCRL PNP	10434 1604 2215 27087 28 308 3161 4153 4860 4952 962	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:8483	retinal artery occlusion	CYP1B1	1545	Homo sapiens (human)	DisGeNET
DOID:9854	lingual-facial-buccal dyskinesia Aliases: Oro-facial dyskinesia	ACE ACHE ACO2 AGA ALDH5A1 ALDH7A1 ATP6V1A B3GALNT2 B4GALNT1 COMT CYB5R3 CYP17A1 CYP1A2 CYP21A2 CYP2B6 CYP3A4 CYP3A5 CYP4F3 DHCR7 DHDDS ECHS1 FOLR2 G6PD GAD1 GBA1 GCDH GFRA2 GLUL GPX1 HEXA HEXD HPGDS HPRT1 HSPG2 INPP5K LMAN2L MAN1B1 MAN2B1 MBOAT7 MECR MYORG NDST1 NGLY1 NTNG1 OGA OGDH PAFAH1B1 PDHA1 PGAP1 PGAP3 PGP PIGC PIGN PIGP PIGQ PIK3CA PIP4K2A PIP4K2C PLB1 PMM2 PPT1 PRNP PSAP PTEN RENBP SGSH SLC26A2 SLC2A3 SLC35A1 ST3GAL3 ST3GAL5 SUCLA2 SYNJ1 TECR TPI1 TUSC3	10559 10724 11253 1312 148789 151056 1544 1555 1576 1577 1586 1589 1636 1717 1727 175 1836 1892 22854 2350 23556 2539 2571 2583 2629 2639 2675 27306 2752 283871 284004 2876 3073 3251 3339 3340 4051 4125 43 4967 50 501 5048 51102 51227 5160 51763 523 5279 5290 5305 5373 5538 55768 5621 5660 5728 57462 5973 6448 6487 6515 7167 79143 7915 79837 7991 79947 80055 81562 8803 8867 8869 9091 93210 9524	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:3083	chronic obstructive pulmonary disease Aliases: COLD COPD chronic obstructive airway disease chronic obstructive lung disease	ACE ACHE ACLY ACOT7 ACSS2 ADIPOQ AGPAT3 ALDH2 ALOX15 ALPI ALPP ANXA5 ARSA ARSB C1GALT1 CALR CAT CD14 CD1D CD33 CD38 CD74 CDH13 CEACAM5 CEL CH25H CHI3L1 CHIT1 CLEC7A CNTN4 COMT CS CYP1A1 CYP1A2 CYP1B1 CYP2B6 CYP2E1 CYP3A5 CYP7B1 DCN DHCR24 EPHX2 FDPS FUT8 GAD1 GALC GALNS GALNT13 GLA GLB1 GM2A GPX1 GPX3 HAS2 HPGDS HSD11B1 HSD17B6 HTR2A HYAL1 ICAM1 IDS IL18R1 IL1RAP IL1RL1 INPP5D ISYNA1 ITPK1 KL KLRK1 LAYN LEP LEPR LGALS3 LGALS9 LTC4S MBL2 MRC1 NT5E NTM OGG1 PARP1 PARP9 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G10 PLA2G15 PLA2G1B PLA2G2A PLA2G2D PLA2G4C PLAUR PLB1 PLCE1 POFUT1 PPARGC1A PRNP PTEN PTGDS PTGS1 PTGS2 RECK SARM1 SDC4 SDHB SELL SELP SFTPA1 SFTPA2 SFTPC SFTPD SGPL1 SGSH SIGLEC8 SIGLEC9 SIRT2 SIRT6 SLC27A5 SLC2A4 SLC35F3 SMPD1 SMPD3 SMUG1 SOAT1 SORD SPAM1 SPHK1 STS SUMF1 TLR4 TM7SF2 TNF TNFRSF10C UGCG VCAN	1012 1048 1056 10891 10998 1116 1118 11332 114805 1312 142 1431 143903 1462 148641 151056 152330 1543 1544 1545 1555 1571 1577 1634 1636 1718 2053 217 2224 22914 22933 23098 23509 23583 23659 246 248 250 2530 2571 2581 2588 26279 2717 27180 27181 2720 27306 2760 285362 2876 2878 3037 308 3290 3356 3373 3383 3423 3556 3635 3705 3952 3953 3958 3965 4056 410 411 412 4153 43 4360 47 4907 4968 50863 51196 51477 51548 5290 5291 5293 5294 5319 5320 5329 55512 55902 5621 56894 56913 5728 5730 5742 5743 6385 6390 6402 6403 6440 6441 6448 64581 6517 653509 6609 6646 6652 6677 7099 7108 7124 729238 7357 811 83666 8399 8434 847 8605 8630 8794 8809 8877 8879 9023 912 9173 929 9365 9370 9420 945 952 972	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:2275	pharyngitis Aliases: Inflamed throat Persistent sore throat Pharyngeal disorder Pharyngitis - acute Sore throat - chronic acute pharyngitis acute sore throat chronic pharyn/nasopharyngitis chronic pharyngitis chronic pharyngitis and nasopharyngitis chronic sore throat	CYP2C19 GALNS PTGS2 UGCG	1557 2588 5743 7357	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0080283	developmental and epileptic encephalopathy 55 Aliases: DEE55 GPIBD14 early infantile epileptic encephalopathy 55 glycosylphosphatidylinositol biosynthesis defect 14	PIGP	51227	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0050581	brachydactyly	MGAM MGAT3 PARP1 SI SLC26A2	142 1836 4248 6476 8972	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:11634	myxedema	ACE ACHE ALG8 ANXA5 ARSA ASAH1 B3GLCT BAAT CAT CDH13 COMT CPT1C CYP19A1 CYP2B6 EFNA5 ENO2 ENPP1 EXT2 FADS2 FASN FUCA1 G6PD GAS1 GLUL GNE GPC1 GPX1 HJV HSD17B3 HSD3B1 INPP5B L1CAM LGALS3 LIPC MBL2 MPDU1 NCAM1 PIK3C2A PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G2A PLOD3 PMM2 PNPLA3 PRKAA2 PTEN PTGS2 SGPL1 SLC2A12 SLC2A3 SLC2A8 SMUG1 SRD5A1 SRD5A3	10020 1012 126129 1312 145173 148738 154091 1555 1588 1636 1946 2026 2132 2194 23583 2517 2539 2619 2752 2817 2876 29988 308 3283 3293 3633 3897 3958 3990 410 4153 427 43 4684 5167 5286 5289 5290 5291 5293 5294 5320 5373 5563 570 5728 5743 6515 6715 79053 79644 80339 847 8879 8985 9415 9526	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0111052	Scott syndrome Aliases: BDPLT7 SCTS bleeding abnormality due to deficiency of platelet biding of factor X familial prothrombin consumption inhibitor familial prothrombin conversion defect platelet-type bleeding disorder 7 prothrombin consumption deficiency	ANXA5	308	Homo sapiens (human)	DisGeNET
DOID:0081002	Cowden syndrome 6	AKT1	207	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070330	multiple mitochondrial dysfunctions syndrome Aliases: fatal multiple mitochondrial dysfunction syndrome	GCSH	2653	Homo sapiens (human)	Alliance of Genome Resources
DOID:12305	Bloch-Sulzberger syndrome Aliases: Incontinentia pigmenti Incontinentia pigmenti syndrome	ACACA CD38 CEL CHIT1 CLEC7A COLEC11 CYP1B1 CYP51A1 G6PD IL1R1 MASP1 MPG NSDHL PARP9 SFTPD SLC27A5 SMUG1	1056 10998 1118 1545 1595 23583 2539 31 3554 4350 50814 5648 6441 64581 78989 83666 952	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:0080191	PTEN hamartoma tumor syndrome	PIK3CA PIK3CB PIK3CD PIK3CG PTEN	5290 5291 5293 5294 5728	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:1156	chondrocalcinosis Aliases: calcium pyrophosphate deposition disease pseudogout	ACE ALPL ANXA5 CD44 CYP19A1 ENPP1 GALNT3 HSPG2 KL PTGS2	1588 1636 249 2591 308 3339 5167 5743 9365 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0050741	alcohol dependence Aliases: alcoholism	ABAT ABO ACE ACSS2 ADH1A ADH1B ADH1C ADH4 ADH5 ADH6 ADH7 AKR1A1 AKR1C3 AKR1C4 ALDH1B1 ALDH2 ALDH3B2 APRT ARSA CAT CDH13 CNTN4 CNTN6 COMT CYP19A1 CYP1A1 CYP2B6 CYP2E1 CYP3A5 ECHS1 FOLR1 GAD1 GAD2 GAPDH GGT1 GLUL GM2A GUSB HPGDS HSD11B2 HSPG2 HTR2A IL18R1 IL1R1 IMPA1 KL LEP LYZ MGLL NCAM1 NPL PARP9 PC PIK3CA PIK3CB PIK3CD PIK3CG PLCD3 PNPLA3 PPAT PRSS21 SLC17A5 SLC39A8 SMPD1 SRD5A1 SRD5A2 ST8SIA4 TIPARP TKT TMEM260 UMOD	1012 10327 10942 1109 113026 11343 124 125 126 127 128 130 131 1312 152330 1543 1555 1571 1577 1588 1636 18 1892 217 219 222 2348 2571 2572 2597 25976 26503 2678 27255 27306 2752 2760 28 2990 3291 3339 3356 353 3554 3612 3952 4069 410 4684 5091 5290 5291 5293 5294 5471 54916 55902 64116 6609 6715 6716 7086 7369 7903 80339 80896 83666 847 8644 8809 9365	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0110052	amelogenesis imperfecta type 1B Aliases: AI1B AIH2 amelogenesis imperfecta type IB autosomal dominant hypoplastic local amelogenesis imperfecta hereditary localized enamel hypoplasia	AKR1C1 AKR1C2 MMP25 TMEM165	1645 1646 55858 64386	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0110126	Bardet-Biedl syndrome 4 Aliases: BBS4	INPP5E PIGX	54965 56623	Homo sapiens (human)	DisGeNET
DOID:8997	polycythemia vera Aliases: Osler-Vaquez syndrome Polycythaemia rubra vera Proliferative polycythaemia chronic erythremia	ACE ACO1 ACSL6 AKR1C4 ALOX5 BPGM CALR CAT CD177 CD33 CD38 CEL CH25H CHI3L1 CHIT1 CYB5R3 CYP1A1 CYP2B6 ENPP1 FH FUT1 G6PD HPGDS ICAM1 IDH1 IDH2 IL18R1 ISYNA1 LGALS1 LGALS3 LPL PCYT1A PIGA PIK3CA PIK3CB PIK3CD PIK3CG PKLR PLAUR PTEN SDC1 SMUG1 SOAT1	1056 1109 1116 1118 1543 1555 1636 1727 2271 23305 23583 240 2523 2539 27306 3383 3417 3418 3956 3958 4023 48 5130 51477 5167 5277 5290 5291 5293 5294 5313 5329 57126 5728 6382 6646 669 811 847 8809 9023 945 952	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0110482	autosomal recessive nonsyndromic deafness 24 Aliases: DFNB24 autosomal recessive deafness 24	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:0111252	vestibular schwannomatosis Aliases: ACN BANF NF2 NF2-related schwannomatosis SWN3 SWNV acoustic neurofibromatosis bilateral acoustic neurinoma bilateral acoustic neurofibromatosis bilateral acoustic schwannomas central neurofibromatosis familial acoustic neuromas neurofibromatosis 2 neurofibromatosis type II schwannomatosis 3	CAT CD44 CYP19A1 CYP2E1 FASN MTAP PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGDS PTGS2 SIRT2 TMEM165	1571 1588 2194 22933 4507 5290 5291 5293 5294 55858 5728 5730 5743 847 960	Homo sapiens (human)	DisGeNET DisGeNET
DOID:5662	pleomorphic carcinoma	CYP1A1	1543	Homo sapiens (human)	DisGeNET
DOID:0110155	Charcot-Marie-Tooth disease type 2A2A Aliases: CMT2A2A Charcot-Marie-Tooth neuronal type 2A2 Charcot-Marie-Tooth neuropathy type 2A2 HMSN IIA2 HMSN2A2 autosomal dominant axonal Charcot-Marie-Tooth disease type 2A2 hereditary motor and sensory neuropathy IIA2	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:14784	olivopontocerebellar atrophy Aliases: Dejerine-Thomas syndrome Thomas' syndrome WADIA-SWAMI SYNDROME	CHAT PMM2	1103 5373	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0060232	branchiootic syndrome Aliases: BO syndrome BOR branchiootic dysplasia	AKR1C4 CNTN3 COG1 CYP2B6 DGCR2 FREM1 G6PD GAS1 GYS2 LSS NT5E SLC26A2	1109 1555 158326 1836 2539 2619 2998 4047 4907 5067 9382 9993	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:6458	cerebellar liponeurocytoma Aliases: Lipomatous Medulloblastoma	IDH1	3417	Homo sapiens (human)	DisGeNET

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