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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 **4251 - 4275** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:1067	open-angle glaucoma Aliases: Wide-angle glaucoma glaucoma simplex open angle glaucoma pigmentary glaucoma	ABO ACE AKR1B1 ALDH7A1 CD38 CYP1B1 DGKD GMDS GPNMB PLCE1 PMM2 PTGDS PTGS2 TNF	10457 1545 1636 231 2762 28 501 51196 5373 5730 5743 7124 8527 952	Homo sapiens (human)
DOID:9191	diabetic macular edema	CD14 CHI3L1 GAL3ST1 HK1 ICAM1 LGALS1 PLA2G7 RPE SLC35A1	10559 1116 3098 3383 3956 6120 7941 929 9514	Homo sapiens (human)
DOID:990	congenital heart block	CALR SIGLEC1	6614 811	Homo sapiens (human)
DOID:3205	melanotic neurilemmoma Aliases: Melanotic Schwannoma Pigmented Neurilemmoma Pigmented schwannoma	ARSA B3GAT1 CAT CD44 CYP2E1 NCAM1 PIK3CA PIK3CB PIK3CD PIK3CG PRNP PTEN PTGS2 SIGLEC7 STS TMEM165 VCAN	1462 1571 27036 27087 410 412 4684 5290 5291 5293 5294 55858 5621 5728 5743 847 960	Homo sapiens (human)
DOID:150	disease of mental health	ABO ACE ACOT7 ACSL4 ACSL6 ACSS2 ALDH2 ALDH7A1 ARSA ARSD B3GAT1 CACNA2D4 CD22 CDH13 CHAT CHI3L1 CNTN4 COMT CYP21A2 CYP2B6 CYP2C19 CYP3A5 DEGS1 DEGS2 DGKH DGKK EXT1 G6PD GAD1 GAD2 GALNS GLUL GNPAT HSD11B1 HSD17B12 HSPG2 ICAM1 IDH1 IDUA INPP5K ISYNA1 MACROD2 MAG MANEA MGAT1 MICA NCAM1 PI4K2B PI4KA PIGL PIK3C2A PIP4K2A PLA2G15 PTEN PTGDS PTGS2 RGMA SDC2 SMPD1 SMUG1 SPTLC1 SRGN ST8SIA2 TMTC1	100507436 1012 10558 1103 1116 11332 123099 1312 139189 140733 152330 1555 1557 1577 1589 160851 1636 2131 217 2182 23305 23583 23659 2539 2571 2572 2588 27087 2752 28 3290 3339 3383 3417 3425 4099 410 414 4245 4684 501 51144 51477 51763 5286 5297 5305 55300 5552 55902 56963 5728 5730 5743 6383 6609 79694 8128 83857 8443 8560 933 93589 9487	Homo sapiens (human)
DOID:4659	extracutaneous mastocytoma	CD44 CD72 ENPP3 HS2ST1 HSPG2 ICAM1 IDH2 MCAT PLA2G2E	27349 30814 3339 3383 3418 5169 960 9653 971	Homo sapiens (human)
DOID:0110197	Charcot-Marie-Tooth disease dominant intermediate B Aliases: CMTDI1 CMTDIB Charcot-Marie-Tooth neuropathy dominant intermediate B DI-CMTB	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)
DOID:9255	frontotemporal dementia Aliases: Wilhemsen-Lynch disease frontotemporal lobar degeneration multiple system tauopathy with presenile dementia pallidopontonigral degeneration	ACE ACHE CEACAM6 CHI3L1 CHIT1 CYP27A1 DLD EXT1 EXT2 FUT10 GFRA2 GLCE GLDC GNE MASP2 PLA2G6 PRNP PSAP SARM1 SMUG1 SPTLC1 ST3GAL4 SUCLA2 TMED9	10020 10558 10747 1116 1118 1593 1636 1738 2131 2132 23098 23583 26035 2675 2731 43 4680 54732 5621 5660 6484 8398 84750 8803	Homo sapiens (human)
DOID:5870	eosinophilic pneumonia Aliases: Pneumonia, eosinophilic	ALPL CEL CHI3L1 HPGDS IL1R1 IL1RL1 ISYNA1 PARP9 PTGDS SIGLEC8 SIRT2 SLC27A5	1056 10998 1116 22933 249 27181 27306 3554 51477 5730 83666 9173	Homo sapiens (human)
DOID:1037	lymphoid leukemia Aliases: lymphoblastic leukaemia lymphoblastic leukemia lymphocytic leukaemia	AKR1B1 B3GAT1 CD22 CD33 CD38 CD44 CDH13 CEACAM5 CYP3A5 DLD EBP FCER2 FDPS GML HPGDS HPSE ICAM1 IDH1 IDH2 IL18R1 KLRK1 LARGE1 MACROD1 MTAP NCAM1 PCYT1A PGP PIK3C2A PIK3CA PIK3CB PIK3CD PIK3CG PLD2 PPP1R3A PTEN PTGS2 SIGLEC7 SMC3 SMPD3 VCAM1	1012 1048 10682 10855 1577 1738 2208 2224 22914 231 27036 27087 27306 2765 283871 28992 3383 3417 3418 4507 4684 5130 5286 5290 5291 5293 5294 5338 5506 55512 5728 5743 7412 8809 9126 9215 933 945 952 960	Homo sapiens (human)
DOID:0111063	hyperphosphatemic familial tumoral calcinosis Aliases: HFTC HHS PHPTC cortical hyperostosis with hyperphosphatemia familial Teutschlaender disease familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome hypercalcemic tumoral calcinosis hyperostosis with hyperphosphatemia hyperphosphatemia hyperostosis hyperphosphatemia hyperostosis syndrome hyperphosphatemia tumoral calcinosis lipocalcinogranulomatosis morbus Teutschlaender primary hyperphosphatemic tumoral calcinosis tumoral calcinosis with hyperphosphatemia	ALPL ANXA5 ENPP1 GALNT3 KL	249 2591 308 5167 9365	Homo sapiens (human)
DOID:0090090	hypogonadotropic hypogonadism 19 with or without anosmia	ACSM3 ADH5 CD44 CD55 CYP17A1 CYP19A1 GAS1 GK GPC1 HJV HS6ST1 HSD17B3 L1CAM MMUT NT5E PMM2 PNPLA6 SEMA7A SMPD3 SOAT1 STS TYMP	10908 128 148738 1586 1588 1604 1890 2619 2710 2817 3293 3897 412 4594 4907 5373 55512 6296 6646 8482 9394 960	Homo sapiens (human)
DOID:0110756	type 1 diabetes mellitus 19 Aliases: IDDM19 Insulin-Dependent Diabetes Mellitus 19	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)
DOID:0110572	autosomal dominant nonsyndromic deafness 49 Aliases: DFNA49 autosomal dominant deafness 49	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)
DOID:4851	pilocytic astrocytoma Aliases: Piloid astrocytoma grade I Astrocytic tumor	ACHE ACSL5 ADH1A ADH1B ADH1C ADH4 ADH6 AKR1A1 AKR1B1 AKR1C3 ALOX5 APRT ATRN B3GAT1 BDH2 BST2 CALR CAT CD248 CD44 CD55 CD74 CHI3L1 CHST15 CNTN2 CS CYP1B1 CYP4F3 ENPP1 EXT1 FCN2 FKTN G6PD GLB1 GOLPH3 HAS2 HJV HMMR HPGDS HPSE ICAM1 IDH1 IDH2 LGALS3 LGALS4 MMP25 MRC1 NEU1 PARP1 PFKFB3 PFKFB4 PGAM1 PGK1 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLA2G10 PLA2G2A PLA2G4A PLB1 PLCB1 PLD1 PLD2 PRNP PRPS1 PTEN PTGDS PTGES PTGS2 RECK RTN4R SDC4 SDHA SGPL1 SLC2A3 SMUG1 SPHK2 ST8SIA2 ST8SIA4 STS TM7SF2 TNKS TYMP VCAM1 VCAN XYLT1	10327 10855 1116 124 125 126 127 130 142 1431 1462 148738 151056 1545 1604 1890 2131 2218 2220 231 23236 23583 240 2539 27087 2720 27306 3037 3161 3383 3417 3418 353 3958 3960 4051 412 43 4360 4758 51363 5167 51703 5209 5210 5223 5230 5290 5291 5293 5294 5310 5320 5321 5337 5338 5621 5631 56848 56898 57124 5728 5730 5743 6385 6389 64083 64131 64386 65078 6515 684 6900 7108 7412 7903 811 8128 8399 8434 8455 847 8644 8658 8879 9536 960 972	Homo sapiens (human)
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)
DOID:0111216	autosomal recessive centronuclear myopathy Aliases: AR-CNM	MTM1 MTMR14	4534 64419	Homo sapiens (human)
DOID:355	mast-cell sarcoma	CAT CYP24A1	1591 847	Homo sapiens (human)
DOID:0111910	spermatogenic failure Aliases: SPGF	PDHA2	5161	Homo sapiens (human)
DOID:0050557	congenital muscular dystrophy	ACE ACHE AGK AGL APRT B3GALNT2 B4GALNT2 B4GAT1 CHKA CHKB COL6A1 CRPPA DAG1 DCN DPEP1 DPM1 DPM2 DPM3 ENO1 FKRP FKTN GK GLB1 GMPPB HPGDS IDH2 IMPA1 INPP5B INPP5K LARGE1 LARGE2 LGALS3 MBL2 MGAM PARP1 PIK3C2A PMM2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRG2 RXYLT1 SDC2 SI SYNJ1 SYNJ2	10329 10585 11041 1119 1120 120071 124872 1291 142 148789 1605 1634 1636 178 1800 2023 2218 2710 2720 27306 29925 29954 3418 353 3612 3633 3958 4153 43 51763 5286 5373 54344 5553 55624 55750 56983 6383 6476 729920 79147 84197 84892 8813 8818 8867 8871 8972 9215	Homo sapiens (human)
DOID:14264	benign neonatal seizures Aliases: benign familial neonatal seizures benign neonatal convulsions	ATP1A2 GALE	2582 477	Homo sapiens (human)
DOID:8337	appendicitis Aliases: acute appendicitis acute appendicitis with generalized peritonitis acute appendicitis with peritoneal abscess	ACSS2 CD14 CDS1 NAGLU PCYT1A PLA2G15 SMUG1	1040 23583 23659 4669 5130 55902 929	Homo sapiens (human)
DOID:5644	tricuspid valve prolapse	PLD1	5337	Homo sapiens (human)
DOID:0060298	complement component 4b deficiency	ACE CALR CD55 FCN3 MASP2	10747 1604 1636 811 8547	Homo sapiens (human)
DOID:8443	brachial plexus lesion Aliases: Brachial plexus lesions	SMUG1	23583	Homo sapiens (human)

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