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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 **3676 - 3700** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0060473	Kabuki syndrome Aliases: KMS Kabuki make up syndrome Niikawa-Kuroki syndrome	MACROD2	140733	Homo sapiens (human)	DisGeNET
DOID:12397	entropion	ATP6V1A	523	Homo sapiens (human)	DisGeNET
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:4926	bronchiolo-alveolar adenocarcinoma Aliases: Bronchioalveolar lung carcinoma Bronchioloalveolar carcinoma Minimally Invasive Lung Adenocarcinoma	CYP19A1 GPX3 GPX7 HPGDS HSD11B1 HYAL2 MDH2 NCAM1 PIK3CA PTEN SFTPA2 SFTPC SLC2A10 TP53	1588 27306 2878 2882 3290 4191 4684 5290 5728 6440 7157 729238 81031 8692	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:10941	intracranial aneurysm Aliases: brain aneurysm	ACE ACSM3 ATP6V0A2 CBR1 CD14 CYP2C19 GBA1 HSPG2 LGALS9 NTM PARP1 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKD2 PTEN PTGES PTGS2 SELE SLC35F3 TM7SF2 TNF VCAM1 VCAN	142 1462 148641 1557 1636 23545 2629 3339 3965 50863 5130 5290 5291 5293 5294 5310 5311 5728 5743 6296 6401 7108 7124 7412 873 929 9536	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:8446	intussusception Aliases: Intussusception of intestine Invagination of intestine or colon	PCYT1A PTEN SLC35G1	159371 5130 5728	Homo sapiens (human)	DisGeNET
DOID:3145	hyperlipoproteinemia type III Aliases: Remnant hyperlipidemia carbohydrate induced hyperlipemia familial hypercholesterolaemia with hyperlipaemia familial type 3 hyperlipoproteinemia	CD44 CYP27A1 LPL SMUG1 SULF2	1593 23583 4023 55959 960	Homo sapiens (human)	DisGeNET DisGeNET
DOID:10908	hydrocephalus Aliases: hydrocephalus, X-linked hydrocephalus, nonsyndromic, autosomal recessive	ACADM ACSM3 AGPAT2 ALDH7A1 ARSB B3GALNT2 B3GAT3 B3GLCT B4GAT1 CHST14 CHST3 CNTN5 CNTN6 COG6 COG8 COMT CPT2 CRPPA DAG1 DHCR24 DHCR7 EBP EOGT EXT1 FBP1 FIG4 FKRP FKTN GALC GBA1 GLB1 GLDC GLUL GMPPB GPC3 GUSB HIBCH HSD17B4 IDS IDUA INPP5E L1CAM LARGE1 MBOAT7 MTM1 MYORG NANS NGLY1 NT5E NTNG1 OCRL OGDH PAFAH1B1 PDHA1 PIGN PIK3CA PIK3CB PIK3CD PIK3CG POMGNT1 POMGNT2 POMK POMT1 POMT2 PPARA PRNP PTDSS1 PTEN RXYLT1 SFTPA1 SFTPA2 SFTPC SFTPD SLC17A5 SLC39A8 SMC3 SUCLA2 SUMF1 TGDS TMTC3 UGCG	10329 10555 10585 10682 11041 113189 1312 1376 145173 148789 160418 1605 1717 1718 2131 2203 2218 22854 23483 23556 2581 26229 26275 2629 26503 2719 2720 27255 2731 2752 285203 285362 2990 29925 29954 3295 34 3423 3425 3897 411 4534 4907 4952 4967 501 5048 5160 5290 5291 5293 5294 53942 54187 5465 55624 55768 5621 56623 5728 57462 57511 6296 64116 6440 6441 653509 729238 729920 7357 79143 79147 84197 84342 84892 8803 9126 9215 9469 9791 9896	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:1686	glaucoma	ABO ACHE AGK AKR1C3 AKR1C4 ALDH7A1 ALPI ALPP AMT ANXA5 APRT ARSB ARSD ASAH1 ASAH2 B3GALNT2 B3GAT3 B3GLCT B4GAT1 BAD CA4 CACNA2D1 CHST14 COMT CRPPA CYP1B1 CYP2B6 CYP2J2 DAG1 DERA DHCR7 DHDDS DPM2 EBP ELOVL5 FKRP FKTN FUT8 GBA2 GLA GMPPB HGSNAT HPGDS HPSE2 HPSE HSD11B1 HSD17B7 HYAL3 IDH3A IDH3B IDUA INPP5B KDSR LARGE1 LGALS9 MASP1 MGLL MTMR2 OCRL PIK3C2A PIK3CA PIK3CB PIK3CD PIK3CG PLA2G4A PLB1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRNP PTEN PTGS1 RXYLT1 SELE SMC3 SRD5A3 TMTC2 TNF VCAN XYLT1	10329 10585 10682 10855 11041 1109 113189 11343 1312 138050 145173 1462 148789 151056 1545 1555 1573 160335 1605 1717 2218 248 250 2530 2531 26229 2717 27306 275 28 29925 29954 308 3290 3419 3420 3425 353 3633 3965 411 414 427 43 4952 501 51071 51478 5286 5290 5291 5293 5294 5321 55624 55750 5621 5648 56624 572 5728 5742 57704 60481 60495 6401 64131 7124 729920 762 781 79147 79644 79947 8372 84197 84892 8644 8818 8898 9126 9215	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0111133	focal segmental glomerulosclerosis 8 Aliases: FSGS8	ACE	1636	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:2426	gangliocytoma Aliases: gangliocytoma of central nervous system	CD44 CS LGALS3 NCAM1 PTEN SDHC SIGLEC7	1431 27036 3958 4684 5728 6391 960	Homo sapiens (human)	DisGeNET
DOID:9274	hyperlysinemia	GAD1 GCDH HMGCL PC	2571 2639 3155 5091	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:701	dentin dysplasia Aliases: Dentinal dysplasia	AKR1C1 AKR1C2 GALNT3 MMP25 TMEM165	1645 1646 2591 55858 64386	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:12841	ancylostomiasis	CHIT1	1118	Homo sapiens (human)	DisGeNET
DOID:0110743	type 1 diabetes mellitus 4 Aliases: IDDM4 Insulin-Dependent Diabetes Mellitus 4	ABO ACAN ACE ACOT7 ACSL1 ADH5 AGA AGPAT1 AKR1A1 AKR1B1 ALDH2 ALDH3A2 ALOX12 ALOX15B ALOX5 AMY2A ANXA5 APRT B3GAT1 B4GALNT1 B4GALT1 BAAT CAT CBR1 CD14 CD1D CD209 CD38 CD44 CD48 CD74 CDH13 CEACAM5 CEPT1 CHAT CHST3 CLEC16A CSGALNACT1 CYP21A2 CYP24A1 CYP27A1 CYP27B1 CYP2E1 CYP2R1 CYP7A1 DCN DDOST DGCR2 DHCR7 DLAT EFNA1 ENO2 ENPP1 FASN FCER2 FCGR3B FCN2 FKRP FUT2 G6PC1 G6PC2 G6PD GAD1 GAD2 GAL3ST1 GALNT3 GBA3 GCK GLA GLB1 GLO1 GLUL GPI GPX1 GPX3 GYS1 HK1 HK2 HMGCS2 HPGDS HPRT1 HPSE2 HPSE HSD11B1 HSD11B2 HSD17B4 HSPG2 ICAM1 IGF2R IL18R1 IL18RAP IL1R1 IL1RL1 INPP5D INPPL1 IPPK ISYNA1 KL KLRC3 KLRD1 LDHC LGALS1 LGALS3 LIPC LPL LY6G6D LYPD5 MASP2 MBL2 MGAT1 MGAT5 MICA MIOX NAAA NAMPT NCAM1 OGA PARP1 PDHX PFKFB3 PGM1 PGP PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2C PLA2G6 PLA2G7 PNPLA3 PRKAA2 PRKCSH PTEN PTGS2 REG1B RENBP SCD SDC2 SELE SELL SELP SIRT2 SIRT6 SLC2A12 SLC2A2 SLC2A3 SLC2A4 SLC2A8 SLC35A1 SLC35G1 SLC37A4 SLC5A1 SOAT1 ST3GAL4 SULT1E1 TKT TM7SF2 UGT1A1 UMOD VCAM1 VCAN VTCN1 XYLT1 XYLT2	100507436 1012 10135 10327 10390 1048 10554 10559 10724 10747 10855 1103 11332 120227 128 142 1462 154091 1571 1581 1589 1591 1593 159371 1594 1634 1636 1650 1717 1737 175 176 1942 2026 217 2180 2194 2208 2215 2220 224 22933 231 23274 239 240 247 2524 2538 2539 2542 2571 2572 2583 2591 2645 2683 27087 27163 2717 2720 27306 2739 2752 279 28 2821 283871 284348 2876 2878 2997 29988 308 30835 3098 3099 3158 3251 3290 3291 3295 3339 3383 3482 353 3554 3635 3636 3823 3824 3948 3956 3958 3990 4023 4153 4245 4249 4684 51477 51548 5167 5209 5236 5290 5291 5293 5294 54658 55586 5563 55790 5589 570 5728 5743 57733 57818 58530 5968 5973 60495 6319 6383 6401 6402 6403 64131 64132 64768 6484 6514 6515 6517 6523 6646 6783 7086 7108 7369 7412 79147 7941 79679 79837 80339 8050 8398 847 873 8807 8809 912 9173 929 9365 9469 9514 952 960 962 972 9993	Homo sapiens (human)	DisGeNET DisGeNET
DOID:5522	basaloid squamous cell carcinoma Aliases: Basaloid carcinoma	PIK3CA	5290	Homo sapiens (human)	DisGeNET
DOID:5492	biphasic synovial sarcoma Aliases: Biphasic sarcoma of Synovium Synovial sarcoma, biphasic	CD38	952	Homo sapiens (human)	DisGeNET
DOID:0070161	hereditary sensory and autonomic neuropathy type 2 Aliases: HSAN2 hereditary sensory and autonomic neuropathy type II	ACE ARSA CANX CD44 DGAT2 FIG4 GBA1 HADHB HK1 LCAT MAG MTM1 MTMR2 PGK1 PGM1 PRPS1 SIGLEC7 SPTLC1 SPTLC2	10558 1636 2629 27036 3032 3098 3931 4099 410 4534 5230 5236 5631 821 84649 8898 9517 960 9896	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:10966	lipoid nephrosis Aliases: Minimal Change Glomerulonephritis Minimal change disease Nephrotic syndrome with lesion of minimal change glomerulonephritis Nephrotic syndrome with lesion of minimal change nephrotic syndrome	ACAT1 ACE ALOX5 CALR CHST14 CNTN1 CYP2C19 CYP3A4 CYP3A5 DGAT1 DGKE EXT1 FCGR3B GLA GLO1 GPAM GPC3 GPC5 HPGDS HPSE HSD11B2 HSPG2 IL1R1 KL LCAT LGALS1 LIPC LTA4H LYZ MLYCD NAGLU OGA PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLA2G7 PLA2R1 PLB1 PLCE1 PLCG2 PMM2 PTGS2 SDC1 SDC2 SGPL1 SLC17A5 STS TREH VCAM1	10724 10855 11181 113189 1272 151056 1557 1576 1577 1636 2131 2215 2262 22925 23417 240 26503 2717 2719 27306 2739 3291 3339 3554 38 3931 3956 3990 4048 4069 412 4669 51196 5290 5291 5293 5294 5310 5336 5373 5743 57678 6382 6383 7412 7941 811 8526 8694 8879 9365	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:5015	fibrolamellar carcinoma Aliases: Fibrolamellar hepatocellular carcinoma Hepatocellular carcinoma, fibrolamellar Oncocytic Hepatocellular tumor	APRT CYP19A1 SDC1	1588 353 6382	Homo sapiens (human)	DisGeNET
DOID:0110534	autosomal recessive nonsyndromic deafness 89 Aliases: DFNB89 autosomal recessive deafness 89	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:11355	bladder calculus	CEACAM5 CEACAM7 DPEP1	1048 1087 1800	Homo sapiens (human)	DisGeNET
DOID:9848	endolymphatic hydrops Aliases: labyrinthine hydrops	FCGR3B HPGDS MICA NT5E PARP1	100507436 142 2215 27306 4907	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0110446	dilated cardiomyopathy 1W Aliases: CMD1W	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:0110796	hereditary spastic paraplegia 44 Aliases: SPG44 autosomal recessive spastic paraplegia 44	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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