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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 **6601 - 6625** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0060108	brain glioma Aliases: lower grade glioma	GAPDH	2597	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110108	atrial heart septal defect 3 Aliases: ASD3 atrial septal defect 3	ACADVL ALG12 ARSA ARSD ATP6V1A B3GALT6 B3GAT3 B3GLCT CAT CFC1 CHST14 CHST3 COMT CYP11A1 CYP11B2 CYP1B1 CYP2E1 DSE FIG4 FKTN G6PC3 GAA GPC3 GPC6 MASP1 MMUT PCYT1A PIGA PIGN PIGQ PLD1 PTEN RENBP SMC3 TALDO1 TGDS TKT XYLT2	10082 113189 126792 1312 145173 1545 1571 1583 1585 2218 23483 23556 2548 26229 2719 29940 37 410 414 4594 5130 523 5277 5337 55997 5648 5728 5973 64132 6888 7086 79087 847 9091 9126 92579 9469 9896	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:13042	persistent fetal circulation syndrome Aliases: Fetal circulation Persistent fetal circulation Persistent foetal circulation congenital alveolar capillary dysplasia with misalignment of pulmonary veins persistent foetal circulation syndrome persistent pulmonary hypertension of the newborn	PTEN	5728	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:4838	myoepithelial carcinoma	SMUG1	23583	Homo sapiens (human)	DisGeNET
DOID:1035	aggressive NK-cell leukemia Aliases: aggressive NK-cell leukaemia large granular Lymphocyte Leukemia, NK-cell type natural killer cell leukaemia natural killer cell leukemia	B3GAT1 FCGR3B IL18R1 KLRB1 NCAM1 SOAT1 TP53 UGCG	2215 27087 3820 4684 6646 7157 7357 8809	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:3247	rhabdomyosarcoma	ALPI ALPP CEACAM5 CEACAM7 CYP2B6 DAG1 ENO2 G6PD GLB1 GOLPH3 GPC3 GPC5 HPSE ICAM1 IL1R1 LARGE1 LGALS3 NANS NEU2 PARP1 PGP PIK3CA PIK3CB PIK3CD PIK3CG PNPLA2 PTEN PTGS2 RGN SIRT2 SMUG1 ST8SIA2 ST8SIA4 SYNJ1	1048 10855 1087 142 1555 1605 2026 2262 22933 23583 248 250 2539 2719 2720 283871 3383 3554 3958 4759 5290 5291 5293 5294 54187 57104 5728 5743 64083 7903 8128 8867 9104 9215	Homo sapiens (human)	DisGeNET
DOID:3246	embryonal rhabdomyosarcoma	EFNA1 HPSE ICAM1 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN SMPD1	10855 142 1942 3383 5290 5291 5293 5294 5728 6609	Homo sapiens (human)	DisGeNET
DOID:0080053	Albright's hereditary osteodystrophy Aliases: Albright hereditary osteodystrophy pseudohypoparathyroidism type 1a	APRT ASAH1 GPC1	2817 353 427	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0060025	immunoglobulin alpha deficiency Aliases: IgA deficiency gamma-A-globulin deficiency	AGA CLEC16A CYP21A2 FUT2 FUT3 MBL2 PTEN SDC1	1589 175 23274 2524 2525 4153 5728 6382	Homo sapiens (human)	DisGeNET DisGeNET
DOID:1498	cholera Aliases: Cholera - Vibrio cholerae Cholera due to Vibrio cholerae Vibrio cholerae	ABO ACE ADPRH ALDH7A1 ANXA5 APRT ART5 CD44 CD55 CTBS CYP11A1 CYP19A1 CYP27A1 CYP2B6 ENO1 GLB1 GOLPH3 HSD17B1 ICAM1 NAGLU NT5E PCYT1B PIK3CA PIK3CB PIK3CD PIK3CG PRG2 PRSS8 PTEN SLC5A1 STS TM7SF2 XYLT2	116969 141 1486 1555 1583 1588 1593 1604 1636 2023 2720 28 308 3292 3383 353 412 4669 4907 501 5290 5291 5293 5294 5553 5652 5728 64083 64132 6523 7108 9468 960	Homo sapiens (human)	DisGeNET
DOID:13336	congenital toxoplasmosis Aliases: Toxoplasmosis - congen.	ALOX12 ENPP1	239 5167	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0110192	Charcot-Marie-Tooth disease type 4H Aliases: CMT4H Charcot-Marie-Tooth neuropathy type 4H autosomal recessive Charcot-Marie-Tooth disease type 4H autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4H	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:0110640	congenital muscular dystrophy due to LMNA mutation Aliases: L-CMD LMNA-related congenital muscular dystrophy congenital muscular dystrophy LMNA-related	ACACA ACHE ALDH2 B4GAT1 CD38 CHKB CNTN1 FKRP FKTN GBE1 HACD1 HK1 LARGE1 MTM1 MTMR14 POMGNT1 POMT1 PRKAA2	10585 11041 1120 1272 217 2218 2632 3098 31 43 4534 55624 5563 64419 79147 9200 9215 952	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:2645	benign mesothelioma Aliases: benign tumor of Mesothelium	ACACA AKR1C1 AKR1C2 AKR1C3 ALOX12 ALOX15 ALOX5 ANXA4 APRT BST1 CALR CAT CD14 CD44 CD74 CEACAM5 CEACAM7 CSPG4 CYP19A1 CYP1A1 DLD FCN2 FOLR1 FOLR2 FUT4 GLB1 GPC1 GPC3 GPI HPGDS HPSE ICAM1 ICAM2 IDUA ITLN1 KLRK1 L1CAM LGALS3 LGALS9 MRC1 MSLN MTAP MTMR4 NT5E PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G4A PLB1 PTEN PTGS2 SDC1 SDC2 SIGLEC7 SLC26A2 SMUG1 SPHK1 TBXAS1 TM7SF2 TNFRSF10C TYMP VCAM1 VCAN	10232 1048 10855 1087 142 1462 1464 151056 1543 1588 1645 1646 1738 1836 1890 2220 22914 2348 2350 23583 239 240 246 2526 27036 2719 2720 27306 2817 2821 307 31 3383 3384 3425 353 3897 3958 3965 4360 4507 4907 5290 5291 5293 5294 5321 55600 5728 5743 6382 6383 683 6916 7108 7412 811 847 8644 8794 8877 9110 929 960 972	Homo sapiens (human)	DisGeNET DisGeNET
DOID:11132	prostatic hypertrophy	BAD PTGS2 SRD5A1	572 5743 6715	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110719	Warburg micro syndrome 4 Aliases: Micro Syndrome 4 WARBM4	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:14064	acute poststreptococcal glomerulonephritis Aliases: Post-Streptococcal Glomerulonephritis	GAPDH MBL2	2597 4153	Homo sapiens (human)	DisGeNET
DOID:2047	hepatitis D Aliases: delta hepatitis	B3GAT1 GAPDH SLC35A2 SOAT1 UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9	2597 27087 54575 54576 54577 54578 54579 54600 54657 54658 54659 56886 6646 7355	Homo sapiens (human)	DisGeNET
DOID:0060050	autoimmune disease of blood	C1GALT1	56913	Homo sapiens (human)	Alliance of Genome Resources
DOID:13359	Ehlers-Danlos syndrome Aliases: Cutis hyperelastica elastic skin	ACAN ALPL ATP6V0A2 B3GALT4 B3GALT6 B4GALT7 BAAT CD38 CD44 CHST14 COL9A2 CYP21A2 CYP27B1 CYP2R1 DCN DSE ENPP1 FAM20B MTAP OCRL PAPSS2 PNPLA2 PTGS2 SMPD3 XYLT1	11285 113189 120227 126792 1298 1589 1594 1634 176 23545 249 29940 4507 4952 5167 55512 570 57104 5743 64131 8705 9060 952 960 9917	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0080506	Cornelia de Lange syndrome 2	SMC3	9126	Homo sapiens (human)	DisGeNET
DOID:1930	Laurence-Moon syndrome Aliases: LNMS	INPP5E PIGX PNPLA6	10908 54965 56623	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:9597	Krukenberg carcinoma Aliases: Krukenberg neoplasm	CD44 CEACAM5 CEACAM7 PGP	1048 1087 283871 960	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:4022	ureterocele	PIGP PIGQ	51227 9091	Homo sapiens (human)	DisGeNET
DOID:0110781	hereditary spastic paraplegia 30 Aliases: SPG30 autosomal spastic paraplegia type 30	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

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