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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 **2251 - 2275** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:13819	lymphogranuloma venereum Aliases: Climatic or tropical bubo Durand-Nicolas-Favre disease Lymphogranuloma inguinale Poradenitis inguinale Strumous bubo	ACAT1 ACHE FUT4 ICAM1 LGALS3 SELE	2526 3383 38 3958 43 6401	Homo sapiens (human)
DOID:2860	hemoglobinopathy Aliases: hemoglobinopathies	ABO ALDOA CD55 FUT1 G6PD GPI HK1 NT5E PKLR SCD TPI1 UGT1A1	1604 226 2523 2539 28 2821 3098 4907 5313 54658 6319 7167	Homo sapiens (human)
DOID:3284	thymic carcinoma Aliases: Thymoma, malignant malignant Thymoma	CAT CD44 CD74 CLEC14A G6PD GAPDH GPX1 HACD1 HSD17B7 ICAM1 LY75 MICA MSLN PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PSMD10 PTEN PTGES2 PTGES PTGS2 SMUG1 SULT1E1	100507436 10232 142 161198 23583 2539 2597 2876 3383 4065 51478 5290 5291 5293 5294 5716 5728 5743 6783 80142 847 9200 9536 960 972	Homo sapiens (human)
DOID:0081419	childhood-onset dystonia with optic atrophy and basal ganglia abnormalities Aliases: DYSTONIA 29, CHILDHOOD-ONSET DYTOABG MECR-related neurologic disorder MEPAN syndrome Mitochondrial Enoyl CoA Reductase Protein-Associated Neurodegeneration	MECR	51102	Homo sapiens (human)
DOID:0050425	restless legs syndrome Aliases: WED Willis-Ekbom disease Wittmaack-Ekbom syndrome	ADH1B ATRN CHKB CNTN3 CPT1B GLO1 L1CAM NANS	1120 125 1375 2739 3897 5067 54187 8455	Homo sapiens (human)
DOID:8761	acute megakaryocytic leukemia Aliases: Megakaryocytic myelosis Thrombocytic leukaemia	A4GALT CD38 G6PD GAPDH NCAM1 PTEN	2539 2597 4684 53947 5728 952	Homo sapiens (human)
DOID:0081180	autosomal recessive intellectual developmental disorder 12	ST3GAL3	6487	Homo sapiens (human)
DOID:6846	familial melanoma	BRAF	673	Homo sapiens (human)
DOID:0050560	Walker-Warburg syndrome Aliases: HARD syndrome cerebroocular dysplasia-muscular dystrophy syndrome	ALG1 B3GALNT2 B3GNT2 B4GAT1 CRPPA DAG1 FKRP FKTN GMPPB LARGE1 POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1	10329 10585 10678 11041 148789 1605 2218 29925 29954 55624 56052 729920 79147 84197 84892 9215	Homo sapiens (human)
DOID:0080887	vitamin D-dependent rickets type 1B	CYP2R1	120227	Homo sapiens (human)
DOID:0110306	autosomal dominant limb-girdle muscular dystrophy type 3 Aliases: LGMD1G autosomal dominant limb-girdle muscular dystrophy type 1G muscular dystrophy limb-girdle type 1G	ACAN ACE ACHE AGK AGL ALDH7A1 ALOX12 ALPP APRT ATRNL1 B3GALNT2 B4GALNT2 B4GAT1 CD44 CHKA CHKB CRPPA CTNS DAG1 DCN DPEP1 DPM1 DPM2 DPM3 ENO1 FKRP FKTN GAA GK GLB1 GMPPB GNE HACD1 HPGDS HSPG2 IDH2 IMPA1 INPP5B INPP5K LARGE1 LARGE2 LGALS3 MBL2 MGAM PARP1 PIK3C2A PMM2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRG2 PRKAA2 PYGM RGN RXYLT1 SDC2 SI SIRT2 SLC3A1 ST3GAL4 SYNJ1 SYNJ2	10020 10329 10585 11041 1119 1120 120071 124872 142 148789 1497 1605 1634 1636 176 178 1800 2023 2218 22933 239 250 2548 26033 2710 2720 27306 29925 29954 3339 3418 353 3612 3633 3958 4153 43 501 51763 5286 5373 54344 5553 55624 5563 55750 56983 5837 6383 6476 6484 6519 729920 79147 84197 84892 8813 8818 8867 8871 8972 9104 9200 9215 960	Homo sapiens (human)
DOID:0050433	fatal familial insomnia	CHI3L1 MDH1 PRNP	1116 4190 5621	Homo sapiens (human)
DOID:2367	neuroaxonal dystrophy	NAGA PLA2G1B PLA2G4A PLA2G6 PLB1	151056 4668 5319 5321 8398	Homo sapiens (human)
DOID:0110766	hereditary spastic paraplegia 13 Aliases: SPG13 autosomal dominant spastic paraplegia 13	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)
DOID:0110011	advanced sleep phase syndrome 1 Aliases: FASPS1 familial advanced sleep phase syndrome 1	PER2	8864	Homo sapiens (human)
DOID:9649	congenital nystagmus	ACO2 ACOX1 ADPRS AGK AGRN ALG13 ALG2 ASAH1 ATP6V1A B3GLCT CA4 CACNA2D2 CACNA2D4 CHAT COG4 CYP1B1 CYP7B1 DEGS1 DHCR24 DLAT DPAGT1 EBP ECHS1 ELOVL4 ELOVL5 EXT2 FCSK GAD1 GALC GBA2 GMPPB GPAA1 HEXB HGSNAT HIBCH HS6ST1 HSD17B4 IDH3A IDH3B INPP5E INPP5K L1CAM L2HGDH MAG MAN2B1 MANBA MECR MPDU1 NAGA NANS NEU1 NT5E NYX OCRL OGT PCYT1A PDHA1 PIGN PIGQ PIGS PIGT PLA2G6 PLD3 PMM2 PNPLA6 POMGNT1 PRNP PRPS1 RPIA SDHA SDHB SDHD SGSH SLC17A5 SLC33A1 SLC35A1 SLC35A2 SLC39A8 SMC3 SMPD1 SRD5A3 ST3GAL5 STS SYNJ1 XYLT2	10559 10682 10908 1103 138050 145173 1545 1718 1737 1798 1892 197258 2132 22934 23556 23646 2571 2581 25839 26275 26503 29925 3074 3295 3419 3420 375790 3897 4099 412 4125 4126 427 4668 4758 4907 4952 50 51 51102 5130 5160 51604 51763 523 5373 54187 54936 55624 55750 5621 5631 56623 57704 60481 60506 6389 6390 6392 64116 64132 6448 6609 6785 7355 762 79644 79868 79944 8398 8473 85365 8560 8733 8867 8869 9091 9126 9197 9254 93589 9394 94005 9420 9526	Homo sapiens (human)
DOID:0110824	hereditary spastic paraplegia 9A Aliases: AD-SPG9A Cataracts motor neuropathy-short stature-skeletal anomalies syndrome SPG9A autosomal dominant complex spastic paraplegia type 9A autosomal dominant spastic paraplegia 9A cataracts with motor neuronopathy, short stature and skeletal abnormalities spastic paraparesis with amyopathy, cataracts and gastroesophageal reflux spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome	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)
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:769	neuroblastoma	AACS ACADM ACAT1 ACHE ACO1 ADH1A AKR1B1 ALDH1A3 ALDOC ALOX12 ALOX5 ALPI ALPP AMACR ANXA5 APRT ARSA ARSF ARSH ASAH2 B3GAT1 B3GNT3 B4GALNT1 B4GALT3 CALR CAT CCDC115 CD14 CD177 CD1D CD248 CD38 CD44 CD55 CDH13 CEACAM5 CERK CERS1 CFC1 CHAT CHGA CHKA CHPT1 COMT CS CYP19A1 CYP3A4 CYP3A5 DCN DGCR2 DHCR24 DHDDS DLD EBP ENO1 ENO2 ENPP2 EXTL1 FCGR3B FCN2 FH FIG4 G6PC1 G6PD GAD1 GALNT14 GALNT9 GAPDH GAS1 GBA1 GCNT1 GDPD5 GFRA2 GLB1 GLDC GOLPH3 GPC2 GPC3 GPX1 GUSB HAS3 HK2 HPGDS HPRT1 HPSE HSD17B12 HSD17B6 ICAM1 ICAM2 IL18R1 ITLN1 KLRK1 L1CAM LDHA LDHB LDHC LGALS1 LGALS3 LGALS4 LMAN2 LYPD5 MAG MCAT MGAT2 MGAT5 MGAT5B MGLL MICA MMUT MRC1 MTAP NAGLU NAMPT NANS NCAM1 NCAN NEU4 NT5E OGDH PARP1 PARP2 PARP3 PDIA3 PFKFB3 PGK1 PGP PIK3C2B PIK3C2G PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLB1 PLCB1 PNP PNPLA6 POMGNT1 PPT1 PPT2 PRKAA2 PRNP PRPS1 PTEN PTGES PTGS2 QPRT RECK RENBP RTN4R SDC1 SDHA SDHB SDHC SDHD SELE SELP SHMT2 SIGLEC7 SIRT4 SIRT6 SLC2A3 SLC2A5 SLC39A8 SMUG1 SOAT1 SORD SPHK2 ST8SIA1 ST8SIA2 ST8SIA4 SUCLA2 SULF2 SYNJ1 TNFRSF10C TNKS TPI1 TYMP VCAM1 VCAN	10038 10039 100507436 1012 10135 10331 1048 10682 10715 10855 10908 10960 1103 1113 1119 11343 124 129807 1312 142 1431 1462 1463 146664 151056 1576 1577 1588 1604 1634 1718 1738 1890 2023 2026 2134 220 2215 221914 2220 2271 22914 230 231 23236 23409 23475 23583 23600 239 240 248 250 2538 2539 2571 2583 2597 2619 2629 2650 2675 27036 27087 2719 2720 27306 2731 27349 283871 284348 2876 2923 2990 3038 308 3099 3251 3383 3384 34 347527 353 38 3897 3939 3945 3948 3956 3958 3960 4099 410 416 4247 4249 43 4360 4507 4594 4669 4684 48 4860 4907 4967 50614 51144 51548 5168 5209 5230 5287 5288 5290 5291 5293 5294 5319 5320 5321 54187 5538 55600 55624 5563 55959 55997 5621 5631 56624 56848 56994 57124 57126 5728 5743 5973 6382 6389 6390 6391 6392 6401 6403 64083 64116 6472 64781 6489 65078 6515 6518 65985 6646 6652 7167 7412 7903 79623 79947 811 8128 81544 8398 84317 8434 847 8630 8658 8703 8794 8803 8809 8867 912 929 9374 952 9536 960 9896 9993	Homo sapiens (human)
DOID:399	tuberculosis	ACACA ACE ACOT7 ACSBG2 ADH4 AGA AKR1B1 ALDH2 ALDH5A1 ALOX12 ALOX15 ALOX5 ALPI ALPP AMACR ANXA5 APRT ARSA ARSB ART1 ATP6AP1 B3GAT1 BAAT BST1 CALR CAT CBR4 CD14 CD209 CD38 CD44 CD48 CD55 CEL CFC1 CHIT1 CLEC4E CLEC6A CLEC7A CLEC9A CMAS COLEC11 CYP1A1 CYP27B1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP2R1 CYP3A4 CYP3A5 CYP4F3 CYP51A1 CYP7A1 DLD DPAGT1 EHHADH ENO1 ENO2 EXTL3 FASN FCGR3B FCN2 FCN3 FUT2 GALE GALNS GAPDH GCNT2 GK GLA GLO1 GLUL GUSB HACD1 HPGDS HPRT1 HPSE HSD17B6 HSD17B8 HSPG2 ICAM1 IL18R1 IL1R1 KLRB1 KLRK1 LDHC LGALS3 LGALS9 LTA4H LY75 LYZ MASP1 MASP2 MBL2 MICA MLYCD MMUT MPG MRC1 NCAM1 NDUFAB1 NT5E NTM OXSM PARP9 PC PFKM PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G10 PLA2G2A PLAUR PNP PRKAA2 PTGS2 RBKS RENBP SDC1 SDHD SELL SFTPA1 SFTPA2 SFTPD SIGLEC1 SIRT2 SIRT6 SLC17A5 SLC27A5 SLC2A3 SLC39A8 SMPD1 SMPD2 SMUG1 STS SUCLA2 TLR1 TLR2 TLR6 TMED9 TNF TPI1 UGT1A1 UGT2B7 UMOD UMPS UPP1 VTCN1	100507436 10333 1056 10747 10855 10998 1118 11332 120227 127 1543 1555 1557 1559 1571 1576 1577 1581 1594 1595 1604 1636 1738 175 1798 1962 2023 2026 2137 217 2194 2215 2220 22914 22933 231 23417 23583 23600 239 240 246 248 250 2524 2582 2588 2597 26253 26503 2651 27087 2710 2717 27306 2739 2752 283420 2990 308 30835 31 3251 3339 3383 353 3554 3820 3948 3958 3965 4048 4051 4065 4069 410 411 412 4153 417 4350 4360 4594 4684 4706 4860 4907 50863 5091 51548 5213 5236 5290 5291 5293 5294 5320 5329 537 54658 54732 54995 5563 55907 55997 5648 570 5743 5973 6382 6392 6402 64080 64116 6441 64581 6515 653509 6609 6610 6614 683 7096 7097 7124 7167 729238 7364 7369 7372 7378 78989 7915 7923 79679 811 81616 83666 8399 847 84869 8547 8630 8803 8809 9200 929 93978 952 960 962	Homo sapiens (human)
DOID:10780	primary polycythemia Aliases: Familiar Polycythemia familial erythrocytosis	ACE CD177 FCER2 PKLR SLC17A5	1636 2208 26503 5313 57126	Homo sapiens (human)
DOID:0080537	hypermanganesemia with dystonia 2	SLC39A14	23516	Homo sapiens (human)
DOID:4377	egg allergy Aliases: Allergy to eggs	LYZ MPI PMM2 PTGDS	4069 4351 5373 5730	Homo sapiens (human)
DOID:0050426	Stevens-Johnson syndrome	ACADS ACSS2 AKR1B1 ALOX5 CD33 CYP2B6 CYP2C19 CYP2C9 CYP3A4 FOLR1 FOLR2 HSPG2 MASP2 MICA PARP1 PLA2G15 PTGIS PTGS2 SDHD SGSH SLC17A5 TNF UPP1	100507436 10747 142 1555 1557 1559 1576 231 2348 2350 23659 240 26503 3339 35 55902 5740 5743 6392 6448 7124 7378 945	Homo sapiens (human)
DOID:2491	sensory peripheral neuropathy Aliases: peripheral Sensory Neuropathy sensory neuropathy	AGXT CYP27A1 CYP4F3 GAS1 MTMR2 PKLR PRPS1 SLC33A1 SPTLC1 SPTLC2 SPTLC3	10558 1593 189 2619 4051 5313 55304 5631 8898 9197 9517	Homo sapiens (human)

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