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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 **1076 - 1100** of **7942** in total

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Disease ID	Disease Name ▲	Gene Symbol	Gene ID	Organism	Source
DOID:0060013	X-linked severe combined immunodeficiency Aliases: SCID-X1 XSCID gamma chain deficiency thymic epithelial hypoplasia	FUT1 IL18R1 PGK1	2523 5230 8809	Homo sapiens (human)	DisGeNET
DOID:0070189	X-linked spermatogenic failure 1 Aliases: SPGFX1	CYP11A1 CYP17A1 CYP19A1 CYP2R1 GAPDH HSD3B2 PGAM1 PIK3CA PIK3CB PIK3CD PIK3CG PRPS2 TEX101	120227 1583 1586 1588 2597 3284 5223 5290 5291 5293 5294 5634 83639	Homo sapiens (human)	DisGeNET
DOID:0080362	X-linked spondyloepiphyseal dysplasia tarda	ACAN CD38 CHST3 GLB1 HSPG2	176 2720 3339 9469 952	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0070186	Y-linked spermatogenic failure 1 Aliases: SPGFY1 Y-linked Sertoli cell-only syndrome type I Sertoli cell-only syndrome	ANXA5 CYP17A1 CYP2R1 EPHX2 HPGDS LCT LDHC PARP1 PGAM1 PRPS2 SRD5A2 SRGN STS TEX101	120227 142 1586 2053 27306 308 3938 3948 412 5223 5552 5634 6716 83639	Homo sapiens (human)	DisGeNET
DOID:0070468	Yoon-Bellen neurodevelopmental syndrome Aliases: YOBELN	OGDH OGDHL	4967 55753	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070468	Yoon-Bellen neurodevelopmental syndrome Aliases: YOBELN	Ogdh	18293	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070468	Yoon-Bellen neurodevelopmental syndrome Aliases: YOBELN	ogdh-1	177235	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0070468	Yoon-Bellen neurodevelopmental syndrome Aliases: YOBELN	ogdhl.L	447370	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0070468	Yoon-Bellen neurodevelopmental syndrome Aliases: YOBELN	Ogdh	360975	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060589	Yunis-Varon syndrome Aliases: cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia cleidocranial dysplasia-micrognathia-absent thumbs syndrome	FIG4	9896	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0060589	Yunis-Varon syndrome Aliases: cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia cleidocranial dysplasia-micrognathia-absent thumbs syndrome	FIG4	33658	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060589	Yunis-Varon syndrome Aliases: cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia cleidocranial dysplasia-micrognathia-absent thumbs syndrome	FIG4	855392	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:905	Zellweger syndrome Aliases: cerebrohepatorenal syndrome congenital iron overload	ACAA1 ACOX2 AGPS CAT GNPAT GPD1 HSD17B4 HSD17B7 PAFAH1B1 SCP2	2819 30 3295 5048 51478 6342 8309 8443 847 8540	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0060478	Zika fever Aliases: Zika virus disease	ALDH5A1 B3GAT1 CAT CD14 CD48 CH25H FCGR3B GAPDH GNE ISYNA1 MOGS PARP12 PARP1 PDIA3 PIK3CA PIK3CB PIK3CD PIK3CG RPE SELP SMPD3 SOAT1	10020 142 2215 2597 27087 2923 51477 5290 5291 5293 5294 55512 6120 6403 64761 6646 7841 7915 847 9023 929 962	Homo sapiens (human)	DisGeNET
DOID:0050782	Zollinger-Ellison syndrome	ACACA ACE ACLY AGPAT2 AKR1C3 ALDH2 AMY1A AMY1B AMY1C CA4 CANX CD14 CPT1A CRYL1 CS CYP17A1 CYP19A1 CYP1A2 DHDDS EHHADH ELOVL6 ENPP1 FASN FCGR3B FCN2 G6PC1 G6PC2 GCK GFPT1 GLA GLB1 GPX1 H6PD HADH HGSNAT HK2 HPGDS HSD11B1 IDH3A IDH3B KL LIPC LPIN1 LPL MELTF MGAT5 MPI NEIL1 OGT PDHX PFKFB1 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PMM2 PNPLA2 PNPLA3 POMGNT1 PRKAA2 PTEN PTGDS RENBP SCD SFTPA1 SFTPA2 SFTPC SIGLEC7 SIRT4 SLC2A3 SLC2A4 ST3GAL4 TM7SF2 UGDH UGT1A1 VCAM1	10555 1374 138050 1431 1544 1586 1588 1636 1962 217 2194 2215 2220 23175 23409 2538 2645 2673 27036 2717 2720 27306 276 277 278 2876 3033 3099 31 3290 3419 3420 3990 4023 4241 4249 4351 47 51084 5167 5207 5290 5291 5293 5294 5310 5373 54658 55624 5563 57104 5728 5730 57818 5973 6319 6440 6484 6515 6517 653509 7108 729238 7358 7412 762 79071 79661 79947 80339 8050 821 8473 8644 929 9365 9563	Homo sapiens (human)	DisGeNET
DOID:7693	abdominal aortic aneurysm Aliases: AORTIC ANEURYSM, FAMILIAL ABDOMINAL 1	ABO ACE ACLY ACSS2 ALOX5 APRT ARSA ARSI CAT CD14 CD1D CD22 CD44 CNTN3 CTSA CYP19A1 CYP2J2 DCN EFNA5 FCGR3B FCN3 HPSE ICAM1 ICAM2 IL18R1 IL1R1 LGALS3 LTA4H LTC4S MBD4 MCAT PARP1 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PLA2G10 PLA2G15 PLA2G7 PRKAA2 PTEN PTGES PTGS2 RECK RENBP SELL SLC33A1 SMUG1 SRD5A1 TM7SF2 VCAM1 VCAN XYLT1	10855 142 1462 1573 1588 1634 1636 1946 2215 23583 23659 240 27349 28 3383 3384 340075 353 3554 3958 4048 4056 410 47 5067 5130 5290 5291 5293 5294 5476 5563 55902 5728 5743 5973 6402 64131 6715 7108 7412 7941 8399 8434 847 8547 8809 8930 912 9197 929 933 9536 960	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:14221	abdominal obesity-metabolic syndrome 1 Aliases: dysmetabolic syndrome X metabolic syndrome X	Lep	16846	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14221	abdominal obesity-metabolic syndrome 1 Aliases: dysmetabolic syndrome X metabolic syndrome X	ACACA ACACB ACADVL ACE ACHE ACOX1 ACSL1 ACSL4 ACSM1 ACSM3 AGA AKR1B1 AKR1C3 ALDH2 ALDOA ALOX5 APRT ARSA ARSB ATP6AP2 CALR CANX CAT CD14 CD38 CDH13 CHGA CLEC16A CNTN2 CNTN3 COLEC12 COMT CPT1A CPT2 CYP11B2 CYP17A1 CYP19A1 CYP21A2 CYP24A1 CYP2C19 CYP2R1 CYP3A4 CYP3A5 CYP46A1 CYP4F2 DAG1 ENO2 ENPP1 EPHX2 FADS1 FADS2 G6PC2 G6PD GALNT2 GBA1 GCK GCNT2 GGT1 GNPDA2 GPI GPX1 GPX3 GYS1 H6PD HADH HPGDS HSD11B1 HSD11B2 HSPG2 ICAM1 IGF2R INPPL1 KL LCAT LCT LEP LGALS2 LGALS3 LIPA LIPC LIPG LPIN1 LPL LTA4H LTC4S LYZ MBOAT7 MCAT MGLL MRC1 MTM1 NAAA NAMPT NANS NEIL1 OGA OGG1 OLR1 PARP1 PC PCK1 PCK2 PCYT1A PDHA1 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKM PLA2G2A PLA2G4A PLA2G6 PLA2G7 PLCB1 PLCB4 PLCG1 PLD2 PNPLA2 PNPLA3 PRKAA2 PTEN PTGDS PTGES2 PTGS2 RENBP SCD SDC3 SELE SELP SIRT2 SLC17A5 SLC27A5 SLC2A2 SLC2A4 SLC2A5 SLC33A1 SLC35A2 SLC35D3 SLC3A1 SLC5A1 SRD5A2 ST3GAL4 STS SULT1E1 TM7SF2 UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9 UMOD VCAM1	1012 10135 10159 10724 10858 10998 1113 11343 116285 120227 1312 132789 1374 1376 142 1557 1576 1577 1585 1586 1588 1589 1591 1605 1636 175 2026 2053 217 2180 2182 226 22933 231 23175 23236 23274 240 2539 2590 2629 2645 26503 2651 2678 27163 27306 27349 2821 2876 2878 2997 3033 31 32 3290 3291 3339 3383 340146 3482 353 3636 37 3931 3938 3952 3957 3958 3988 3990 3992 4023 4048 4056 4069 410 411 412 43 4360 4534 4968 4973 5067 5091 51 5105 5106 5130 5160 5167 5290 5291 5293 5294 5310 5315 5320 5321 5332 5335 5338 54187 54575 54576 54577 54578 54579 54600 54657 54658 54659 5563 56886 57104 5728 5730 5743 57818 5973 6296 6319 6401 6403 6484 6514 6517 6518 6519 6523 6716 6783 6900 7108 7355 7369 7412 79143 7941 79661 80142 80339 81035 811 821 8398 847 8529 8644 9197 929 9365 9388 9415 952 9563 9672	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:14221	abdominal obesity-metabolic syndrome 1 Aliases: dysmetabolic syndrome X metabolic syndrome X	Lep	25608	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060611	abdominal obesity-metabolic syndrome	LEP NEIL1 PPARGC1A	10891 3952 79661	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060611	abdominal obesity-metabolic syndrome	Lep Neil1 Ppargc1a	16846 19017 72774	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060611	abdominal obesity-metabolic syndrome	Lep Ppargc1a	25608 83516	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:1386	abetalipoproteinemia Aliases: familial hypobetalipoproteinemia microsomal triglyceride transfer protein deficiency disease	EFNA5 GPLD1 HADHA HADHB HSD11B1 HSPG2 IL18R1 LCAT LGALS1 LPL PIK3C2A PLA2G10 PLA2G2A PLA2G7 ST8SIA4	1946 2822 3030 3032 3290 3339 3931 3956 4023 5286 5320 7903 7941 8399 8809	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0060550	ablepharon macrostomia syndrome	ACE	1636	Homo sapiens (human)	DisGeNET
DOID:0070309	absence epilepsy	ALPI ALPP CACNA2D2 CANX PDIA3 PIGO PLCB4	248 250 2923 5332 821 84720 9254	Homo sapiens (human)	DisGeNET

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