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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **4951 - 4975** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:0110569	autosomal dominant nonsyndromic deafness 44 Aliases: DFNA44 autosomal dominant deafness 44	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:8552	chronic myeloid leukemia Aliases: CML CML - chronic Myelogenous Leukemia Myeloid Leukemia, chronic chronic granulocytic leukaemia chronic granulocytic leukemia chronic myelogenous leukaemia chronic myelogenous leukemia chronic myeloid leukaemia	ABO ACACA ACE AGPAT2 AKR1C3 AKT1 ALOX5 ALPI ALPP ANXA5 B3GAT1 B4GALT1 CALR CAT CD14 CD177 CD33 CD38 CD44 CD55 CDH13 CEACAM5 CLEC12A CYP1A1 CYP2B6 CYP2C8 CYP3A4 CYP3A5 EBP ETNK1 FCGR3B FOLR2 FUT1 FUT4 FUT8 G6PD GPI GPX1 GPX3 GUSB HK2 HMGCLL1 HMMR HPGDS HPRT1 HPSE HSPG2 ICAM1 IDH1 IDH2 IL18R1 IL1RAP IMPA1 INPP5D INPPL1 KLRC1 LGALS3 LGALS9 LTA4H LTC4S MICA MRC1 NCAM1 PARP1 PCYT1A PFKFB3 PGP PI4K2B PIK3CA PIK3CB PIK3CD PIK3CG PKM PLCD1 PRKAA2 PTEN PTGS1 PTGS2 SELL SFTPA1 SOAT1 ST3GAL1 ST8SIA1 ST8SIA4 TKT TKTL1 TPI1 UGT1A10 UGT1A1 UGT1A4 UGT1A6 UGT1A7 UGT1A8 UNG	100507436 1012 1048 10555 10682 10855 142 1543 1555 1558 1576 1577 160364 1604 1636 207 2215 2350 240 248 250 2523 2526 2530 2539 2683 27087 27306 28 2821 283871 2876 2878 2990 308 3099 31 3161 3251 3339 3383 3417 3418 3556 3612 3635 3636 3821 3958 3965 4048 4056 4360 4684 5130 5209 5290 5291 5293 5294 5315 5333 54511 54575 54576 54577 54578 54657 54658 55300 55500 5563 57126 5728 5742 5743 6402 6482 6489 653509 6646 7086 7167 7374 7903 811 8277 847 8644 8809 929 945 952 960	Homo sapiens (human)
DOID:0050571	congenital disorder of glycosylation type II	ALG2 ATP6AP2 COG1 COG3 COG4 COG5 COG6 COG7 COG8 DHCR7 DLD EDEM3 FUT4 GALNT2 MGAT2 MOGS SLC35A1 SLC35A2 SLC35C1 SLC37A4 TMEM165	10159 10466 10559 1717 1738 2526 2542 25839 2590 4247 55343 55858 57511 7355 7841 80267 83548 84342 85365 91949 9382	Homo sapiens (human)
DOID:6195	conjunctivitis	ART4 CD14 IMPA1 LGALS1 MBL2 PLD3	23646 3612 3956 4153 420 929	Homo sapiens (human)
DOID:0110184	Charcot-Marie-Tooth disease type 4J Aliases: CMT4J autosomal recessive Charcot-Marie-Tooth disease type 4J	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:9957	periostitis	DPEP1	1800	Homo sapiens (human)
DOID:970	tenosynovitis Aliases: Inflammation of tendon sheath	ACLY ACSS2 CD44 CYP19A1 DHCR24 EFNA5 FOLR2 GPI HSD11B1 ICAM1 LGALS3 LPIN2 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PRKAA2 PRNP PTGS1 SDC4 SMUG1 SOAT1 SPHK2 VCAM1	1588 1718 1946 2350 23583 23659 2821 3290 3383 3958 47 5290 5291 5293 5294 5563 55902 5621 56848 5742 6385 6646 7412 960 9663	Homo sapiens (human)
DOID:5353	colonic disease Aliases: colon disorder	FUT2	2524	Homo sapiens (human)
DOID:418	systemic scleroderma Aliases: Scleroderma Scleroderma syndrome progressive systemic sclerosis systemic sclerosis	ACACA ACE ACOT7 ACSBG1 ALDH3A2 ALOX5 ANXA5 BST2 CAT CD14 CD1D CD22 CD248 CD44 CD72 CEL CHI3L1 CHST8 CYP1A1 CYP21A2 CYP2B6 CYP2C9 DCN DGKQ DLAT ENPP2 FCGR3B FCN2 FCN3 FOLR2 GLB1 GPI GPX3 HPGDS HPRT1 HSPG2 ICAM1 ICAM2 IL1R1 IL1RAP KL KLRB1 LGALS3 LGALS9 MBD4 MRC1 OXCT1 PARP1 PARP9 PGM1 PIK3C2B PIK3CA PIK3CB PIK3CD PIK3CG PLAUR PLD3 PLD4 PTEN PTGS2 RBP4 SDC1 SDC2 SDHC SELE SELL SFTPD SIGLEC1 SLC27A5 SLC33A1 SMUG1 SOAT1 ST3GAL1 ST6GAL1 SULT1E1 TM7SF2 TPI1 VCAM1 XYLT2	1056 10998 1116 11332 122618 142 1543 1555 1559 1589 1609 1634 1636 1737 2215 2220 224 23205 2350 23583 23646 240 2720 27306 2821 2878 308 31 3251 3339 3383 3384 3554 3556 3820 3958 3965 4360 5019 5168 5236 5287 5290 5291 5293 5294 5329 57124 5728 5743 5950 6382 6383 6391 6401 6402 64132 64377 6441 6480 6482 6614 6646 6783 684 7108 7167 7412 83666 847 8547 8930 912 9197 929 933 9365 960 971	Homo sapiens (human)
DOID:0050959	spinocerebellar ataxia type 8	PCYT1A	5130	Homo sapiens (human)
DOID:0080067	Charcot-Marie-Tooth disease type 5 Aliases: hereditary motor and sensory neuropathy with pyramidal features	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:13141	uveitis	ACAN ACE AKR1B1 CD14 CYP24A1 CYP27B1 EXTL3 ICAM1 IL1RAP MICA OVGP1 PIK3CA PIK3CB PIK3CG PLA2G15 RPE RTN4R SMUG1 TLR4 TM7SF2 TNF VCAN VTCN1	100507436 1462 1591 1594 1636 176 2137 231 23583 23659 3383 3556 5016 5290 5291 5294 6120 65078 7099 7108 7124 79679 929	Homo sapiens (human)
DOID:0050433	fatal familial insomnia	CHI3L1 MDH1 PRNP	1116 4190 5621	Homo sapiens (human)
DOID:0080038	pycnodysostosis	NT5E	4907	Homo sapiens (human)
DOID:2106	myotonia congenita Aliases: Batten Turner congenital myopathy Thomsen and Becker disease	CLC	1178	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:0060802	syndromic X-linked intellectual disability Snyder type Aliases: SRS Snyder-Robinson mental retardation syndrome Snyder-Robinson syndrome mental retardation, X-linked, Snyder-Robinson type spermine synthase deficiency	GPI PIK3CA PIK3CB PIK3CD PIK3CG	2821 5290 5291 5293 5294	Homo sapiens (human)
DOID:10112	sleeping sickness Aliases: African sleeping sickness African trypanosomiasis	ACHE DDOST GAPDH MTAP PIGB SMUG1 STT3A STT3B	1650 201595 23583 2597 3703 43 4507 9488	Homo sapiens (human)
DOID:5403	microcystic adenoma	ACACA ACE ACSL4 ADH1C AKR1B10 AKR1B1 ALDH2 ALOX12 ALOX5 AMACR APRT ARSA BAAT CALR CD44 CD74 CDH13 CEACAM5 CEACAM6 CEACAM7 CEMIP CHGA CHI3L1 CHPT1 CHST3 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP21A2 CYP24A1 CYP2C9 CYP2E1 CYP3A5 DHCR24 DLD DPEP1 ENO2 ENPP7 FUT4 FUT8 G6PC1 GALNT12 GFRA2 GLUL GPC3 GPNMB GPX1 GPX2 GUSB HPGDS HPSE HSD11B1 HSD11B2 HSD17B1 HSD17B7 HSD3B1 HSPG2 IDH1 IGF2R KL LGALS1 LGALS3 LGALS4 LMAN1 LYZ MBD4 MGAT5 MGLL MPG MRC1 MTAP MUTYH NAGLU NAMPT NCAM1 NTHL1 OGG1 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PSMD10 PTEN PTGIS PTGS1 PTGS2 QPRT SDC2 SDHC SELL SHMT1 SLC26A2 SLC2A3 SLC33A1 SMUG1 SORD SPHK1 UGT1A1 UGT1A6 VCAN	1012 10135 10457 1048 10855 1087 1113 1116 11343 126 142 1462 1543 1544 1545 1559 1571 1577 1583 1584 1585 1586 1588 1589 1591 1636 1718 1738 1800 1836 2026 217 2182 231 23475 23583 23600 239 240 2526 2530 2538 2675 2719 27306 2752 2876 2877 2990 31 3283 3290 3291 3292 3339 339221 3417 3482 353 3956 3958 3960 3998 4069 410 4249 4350 4360 4507 4595 4669 4680 4684 4913 4968 51478 5290 5291 5293 5294 54578 54658 56994 570 57016 5716 57214 5728 5740 5742 5743 6383 6391 6402 6470 6515 6652 79695 811 8877 8930 9197 9365 9469 960 972	Homo sapiens (human)
DOID:936	brain disease Aliases: encephalopathy	ACE ACHE ACSF3 AMACR AMT APRT ARSA ATP6V1A CAT CEL CLN5 COG8 CPT2 CYB5R3 CYP2B6 CYP2R1 CYP46A1 DLD ENO2 FCN2 FDPS FH FUT8 GBA1 GCDH GCSH GLDC GLUL GLYCTK HIBCH HMGCL HPGDS IDH3A IDS LGALS3 MCAT NCAN NTNG1 OGG1 PARP9 PDHX PGAP1 PIGA PIGT PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G6 PLCB1 POMT1 PPT1 PRNP PTEN PTGES PTGS2 RTN4R SDC2 SDHA SLC27A5 SLC2A3 SLC33A1 SLC35A1 SLC35A2 SMUG1 SUCLG1 SYNJ1 TM7SF2 UGT1A1 VCAN	10559 1056 10585 10858 10998 120227 1203 132158 1376 1462 1463 1555 1636 1727 1738 197322 2026 2220 2224 2271 22854 23236 23583 23600 2530 26275 2629 2639 2653 27306 2731 27349 275 2752 3155 3419 3423 353 3958 410 43 4968 51604 523 5277 5290 5291 5293 5294 5315 54658 5538 5621 5728 5743 6383 6389 65078 6515 7108 7355 80055 8050 83666 8398 84342 847 8802 8867 9197 9536	Homo sapiens (human)
DOID:9538	multiple myeloma Aliases: myeloma	ABO ACE ACSBG1 ALOX5 ALPI ALPP AMY1A AMY1B AMY1C ANXA5 APRT B3GAT1 BST2 CANX CAT CD14 CD1D CD22 CD33 CD38 CD44 CD48 CD74 CEACAM6 CHI3L1 CHPT1 CLEC12A COLEC10 CPT1C CRYBG1 CYP1A1 CYP1B1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP3A4 DCN DHCR24 DHDDS DLD ENO1 ENPP1 ENPP2 EXT1 FASN FCER2 FCGR3B FDPS FH FOLR1 FOLR2 FUT1 G6PD GAPDH GBA1 GLB1 GLO1 GPX1 GPX3 HAS1 HAS2 HK1 HK2 HMMR HPGDS HPSE2 HPSE ICAM1 IDH1 IDH2 IDUA IGF2R IL1RL1 INPP5D INPPL1 KL KLRB1 KLRC1 KLRK1 LDHA LGALS1 LGALS3 LGALS4 LGALS8 LGALS9 LPL MBL2 MCAT MICA MINPP1 MMP25 MPG MRC1 NAGLU NAMPT NCAM1 NEIL1 OGA PAFAH1B1 PARP14 PARP1 PCYT1A PFKFB3 PIGA PIK3CA PIK3CB PIK3CD PIK3CG PIKFYVE PKM PLAUR PPT2 PRKAA2 PSAP PSMD10 PTEN PTGS1 PTGS2 RECK RENBP RPIA SDC1 SELE SELL SELP SIGLEC1 SIRT6 SLC2A12 SLC2A4 SLC2A8 SLC35A4 SMPD1 SMUG1 SOAT1 SPHK1 SPHK2 SRGN ST3GAL6 TDG TNF TNFRSF10C TNKS TP53 TYMP UGCG ULBP2 VCAM1 VCAN	100507436 10135 10402 10584 10724 10855 1116 113829 126129 142 1462 154091 1543 1545 1555 1557 1558 1559 1576 160364 1634 1636 1718 1738 1890 200576 202 2023 2131 2194 2208 2215 2224 2271 22914 22934 23205 2348 2350 23583 240 248 250 2523 2539 2597 2629 27087 2720 27306 27349 2739 276 277 278 28 2876 2878 29988 3036 3037 308 3098 3099 3161 3383 3417 3418 3425 3482 353 3635 3636 3820 3821 3939 3956 3958 3960 3964 3965 4023 4153 4350 4360 4669 4680 4684 5048 5130 51548 5167 5168 5209 5277 5290 5291 5293 5294 5315 5329 54625 5552 5563 5660 56848 56994 5716 5728 5742 5743 5973 60495 6382 6401 6402 6403 64386 6517 6609 6614 6646 684 6996 7124 7157 7357 7412 79661 79947 80328 821 8434 847 8658 8794 8877 912 9173 929 933 9365 9374 945 952 9562 960 962 972	Homo sapiens (human)
DOID:10316	pneumoconiosis	ACAN CAT GAD1 HS3ST6 PTGS2	176 2571 5743 64711 847	Homo sapiens (human)
DOID:0110764	hereditary spastic paraplegia 11 Aliases: HSP-TCC Nakamura-Osame syndrome SPG11 autosomal recessive spastic paraplegia 11 autosomal recessive spastic paraplegia complicated with thin corpus callosum autosomal recessive spastic paraplegia type 11 autosomal recessive spastic paraplegia with mental impairment and thin corpus callosum spastic paraplegia-intellectual disability-thin corpus callosum 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:12577	urethral obstruction Aliases: Obstruction of urethra	CYP19A1 HPSE2 SIRT2	1588 22933 60495	Homo sapiens (human)
DOID:4205	cerebellum cancer Aliases: cerebellar cancer malignant tumor of Cerebellum	PTEN	5728	Homo sapiens (human)

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