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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 **1251 - 1275** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:8704	genital herpes Aliases: Genital herpes simplex Herpes Genitalis Virus-Genital Herpes venereal herpes	CTSA	5476	Homo sapiens (human)
DOID:10348	blepharophimosis	ATP6V1A COLEC10 COLEC11 DGCR2 GPC6 HSPG2 MASP1 MOGS PIK3CB SLC2A10	10082 10584 3339 523 5291 5648 7841 78989 81031 9993	Homo sapiens (human)
DOID:0080041	hypochondroplasia	ACAN CYP2C19 DCN GALNT2	1557 1634 176 2590	Homo sapiens (human)
DOID:0080240	non-syndromic X-linked intellectual disability 106 Aliases: MRX106 X-linked mental retardation 106	OGT	8473	Homo sapiens (human)
DOID:9768	heart aneurysm Aliases: cardiac aneurysm	SMUG1	23583	Homo sapiens (human)
DOID:2340	craniosynostosis Aliases: Premature closure of cranial sutures	ACOX1 ACSL3 AGA ALG13 ALG9 ALOX5 ALPL ALPP ANXA7 ARSA ATRNL1 B3GAT3 B3GLCT CHI3L1 CHST14 CHST3 CLC CNTN1 COLEC10 COLEC11 COMT CPO CYP11B1 CYP24A1 CYP2B6 DGCR2 DSE ENPP1 EXT2 FKTN FREM1 FUCA1 GAD2 GNPTAB GPC1 GPC3 GPC6 HPGDS HSD11B1 HSD17B4 IDS IL1RL1 IL1RL2 L1CAM LYZ MASP1 MGAT2 MPDU1 MRC1 NAAA NANS NGLY1 NT5E PDHX PGAP2 PGAP3 PIGL PIGO PIGT PIGV PIGW PIGY PIK3CA PIK3CB PIK3CD PIK3CG PLA2G10 PLA2G2A PNPLA6 PTEN PTGDS PTGS2 SDC1 SFTPA1 SFTPA2 SFTPD SLC2A10 SLC35A2 SLC39A8 SMC3 SRD5A3 SULT1E1 VCAM1	10082 10584 10908 1116 113189 1178 1272 130749 1312 145173 1555 158326 1584 1591 175 2132 2181 2218 240 249 250 2517 2572 26033 26229 27163 2719 27306 27315 2817 284098 29940 310 3290 3295 3423 3897 4069 410 4247 4360 4907 51 51604 5167 5290 5291 5293 5294 5320 54187 55650 55768 5648 5728 5730 5743 6382 64116 6441 653509 6783 729238 7355 7412 78989 79158 79644 79796 79868 8050 81031 8399 84720 84992 8808 9126 9173 93210 9469 9487 9526 9993	Homo sapiens (human)
DOID:12720	cerebral atherosclerosis	ACE ACHE IMPA1	1636 3612 43	Homo sapiens (human)
DOID:0060858	hypotonia-cystinuria syndrome Aliases: cystinuria with mitochondrial disease	SLC3A1	6519	Homo sapiens (human)
DOID:0050648	atelosteogenesis	ANXA5 PARP1 SLC26A2	142 1836 308	Homo sapiens (human)
DOID:0080110	contractures, pterygia, and spondylocarpotarsal fusion syndrome Aliases: multiple pterygium syndrome	ACHE GBE1	2632 43	Homo sapiens (human)
DOID:0110464	autosomal recessive nonsyndromic deafness 103 Aliases: DFNB103 autosomal recessive deafness 103	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:0050464	Farber lipogranulomatosis Aliases: Farber disease N-laurylsphingosine deacylase deficiency acid ceramidase deficiency	ASAH1 GALC PSAP	2581 427 5660	Homo sapiens (human)
DOID:0111103	maturity-onset diabetes of the young type 4 Aliases: MODY type 4 MODY4	PDHX PDX1	3651 8050	Homo sapiens (human)
DOID:10327	anthracosis Aliases: Coal Miner's Pneumoconiosis Coal workers' lung Coal workers' pneumoconiosis Melanoedema black lung	CAT GGT1 IL18R1 MBL2 OGG1 PTGS2 SELE UGT8	2678 4153 4968 5743 6401 7368 847 8809	Homo sapiens (human)
DOID:0050841	focal hand dystonia Aliases: organic writer's cramp	ALDH5A1 AMT ARSG ASAH1 ATP6V1A CERS1 CLN5 CNTN2 COG8 CYP27A1 CYP2C19 CYP2U1 DBT DHDDS DLAT DPEP1 ECHS1 EPM2A GAD1 GBA1 GCDH GCSH GLB1 GLDC GLYCTK GPI HIBCH HMGCL HPRT1 HSPG2 ISYNA1 MECR MMUT NAGA NEU1 NGLY1 PDHA1 PGAP2 PGAP3 PIGA PIGL PIGN PIGO PIGP PIGQ PIGV PIGW PIGY PIK3C2A PLA2G6 PLB1 PLCB1 POMGNT1 PPT1 PRNP PSAP RFT1 SC5D SCP2 SDHA SDHD SLC39A8 SMUG1 ST3GAL3 ST3GAL5 SUCLA2 SYNJ1	10715 113612 1203 132158 151056 1557 1593 1629 1737 1800 1892 22901 23236 23556 23583 2571 26275 2629 2639 2653 2720 2731 27315 275 2821 284098 3155 3251 3339 427 4594 4668 4758 51102 51227 51477 5160 523 5277 5286 5538 55624 55650 55768 5621 5660 6309 6342 6389 6392 64116 6487 6900 7915 7957 79947 8398 84342 84720 84992 8803 8867 8869 9091 91869 93210 9487	Homo sapiens (human)
DOID:1678	chronic interstitial cystitis	ACAN ALDH2 DCN DGCR2 ICAM1 INPP5D MGLL MRC1 PARP1 PIK3CA PIK3CB PIK3CD PLA2G2A PLA2G6 PLB1 PTGS2 SELE SFTPD SMC3 UMOD	11343 142 151056 1634 176 217 3383 3635 4360 5290 5291 5293 5320 5743 6401 6441 7369 8398 9126 9993	Homo sapiens (human)
DOID:0110513	autosomal recessive nonsyndromic deafness 61 Aliases: DFNB61 autosomal recessive deafness 61	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:0060604	ankyloglossia Aliases: tongue-tie	EBP	10682	Homo sapiens (human)
DOID:0110774	hereditary spastic paraplegia 23 Aliases: Lison syndrome SPG23 Spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome spastic paraplegia 23 spastic paraplegia with pigmentary abnormalities	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:3951	acute myocarditis	LGALS3 LGALS9 PRKAA2 PTGS2 SMUG1 SULT1E1	23583 3958 3965 5563 5743 6783	Homo sapiens (human)
DOID:0050956	spinocerebellar ataxia type 6	ELOVL5 MPI	4351 60481	Homo sapiens (human)
DOID:2043	hepatitis B Aliases: chronic hepatitis B hepatitis B infection	ABO ACACA ACE ACOD1 ADH1B AKR1A1 AKR1B10 ALDH2 ALDH3A2 ALOX5 ANXA5 APRT ARSA BCKDHB BST2 CALR CAT CD14 CD1D CD209 CD44 CEACAM5 CHI3L1 CHKA CLEC7A CYP17A1 CYP1A2 CYP21A2 CYP27B1 CYP2B6 CYP2C19 CYP2E1 CYP2R1 CYP3A4 DGAT2 EBP ENO1 ENOSF1 EXT1 FASN FCGR3B FCN2 G6PD GAL3ST1 GALNT10 GAPDH GBA1 GFPT1 GGT1 GLB1 GOLPH3 GPC3 GPI GUSB GYS2 HACD1 HK2 HMMR HPGDS HPSE2 HPSE HS3ST3B1 HS6ST3 HSD17B8 HSPG2 ICAM1 IGF2R IL18R1 IL1RL1 INPPL1 ISYNA1 KLRB1 KLRC1 KLRD1 KLRK1 LGALS3 LGALS4 LGALS9 LIPA LY75 LYPD5 MBL2 MBOAT7 MGAT3 MICA MPI MPPE1 MRC1 NAMPT NANS NCAM1 OGG1 PAPSS1 PARP1 PCYT1A PDIA3 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G2A PLAUR PLCE1 PLPP1 PNPLA3 PRKAA2 PRKCSH PRNP PRSS21 PSAP PSMD10 PTEN PTGES PTGS2 RGN SDC2 SELE SHMT2 SIGLEC1 SIRT2 SLC17A5 SLC35A1 SLC35A2 SOAT1 SPHK1 SRGN TDG TKT TKTL1 TMED5 TNF UAP1 UGT1A1 UGT1A6 UGT1A7 UNG VCAN VTCN1 XYLT2 YDJC	100507436 10135 10327 1048 10559 10682 10855 10942 1116 1119 120227 125 142 1462 150223 1544 1555 1557 1571 1576 1586 1589 1594 1636 2023 2131 217 2194 2215 2220 224 22914 22933 240 2539 2597 2629 26503 266722 2673 2678 2719 2720 27306 28 2821 284348 2923 2990 2998 308 30835 3099 31 3161 3339 3383 3482 353 3636 3820 3821 3824 3958 3960 3965 3988 4065 410 4153 4248 4351 4360 4684 4968 50999 51196 5130 51477 5290 5291 5293 5294 5320 5329 54187 54577 54578 54658 5552 55556 55568 5563 5589 5621 5660 57016 5716 5728 5743 594 60495 6383 6401 64083 64132 64581 6472 65258 6614 6646 6675 684 6996 7086 7124 730249 7355 7374 79143 7923 79679 80339 811 8277 84649 847 8611 8809 8877 9061 9104 912 9173 9200 929 9514 9536 960 9953	Homo sapiens (human)
DOID:12361	Graves' disease Aliases: Grave's disease Graves disease exophthalmic goiter	ABO ACACA ACE ADIPOQ ALG1 ANXA5 APRT ATP6AP2 B3GNT2 BAAT BDH1 CALR CAT CD14 CMAS COMT CS CYP19A1 CYP1A1 CYP21A2 CYP27B1 CYP2C9 CYP2R1 CYP7A1 DEGS1 ENPP2 FCER2 FCGR3B FUT2 GAD1 GAD2 GLO1 GLUL GPX1 ICAM1 IL18R1 IL18RAP IL1RL1 KLRC1 LGALS9 LYZ MBL2 NAMPT NCAM1 NT5E OGG1 PARP1 PC PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G2A PLA2G6 PPT1 PRKAA2 PTEN PTGDS SCD SELE SELL SIGLEC1 SLC2A3 SLC2A4 SMUG1 ST3GAL1 ST6GAL1 TM7SF2 TNF TP53 UGDH UGT1A1 UGT2B17 VCAM1	10135 10159 10678 120227 1312 142 1431 1543 1559 1581 1588 1589 1594 1636 2208 2215 23583 2524 2571 2572 2739 2752 28 2876 308 31 3383 353 3821 3965 4069 4153 4684 4907 4968 5091 5130 5168 5290 5291 5293 5294 5319 5320 54658 5538 5563 55907 56052 570 5728 5730 622 6319 6401 6402 6480 6482 6515 6517 6614 7108 7124 7157 7358 7367 7412 811 8398 847 8560 8807 8809 9173 929 9370	Homo sapiens (human)
DOID:14247	chronic purulent otitis media Aliases: chronic suppurative otitis media	CAT	847	Homo sapiens (human)
DOID:0060469	Miller-Dieker lissencephaly syndrome Aliases: MDS Miller-Dieker syndrome	ATP6V0A2 ATP6V1A B3GALNT2 B4GAT1 CD33 CD38 CRPPA CYP2B6 DAG1 DHCR24 DLST FIG4 FKRP FKTN GAD2 HSPG2 LARGE1 NSDHL NT5M PAFAH1B1 PIGA PIGN PIGP PIGQ PLCB1 PLCE1 PLCG1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PTEN RXYLT1 SDC2 STS TMTC3	10329 10585 11041 148789 1555 160418 1605 1718 1743 2218 23236 23545 23556 2572 29954 3339 412 5048 50814 51196 51227 523 5277 5335 55624 56953 5728 6383 729920 79147 84197 84892 9091 9215 945 952 9896	Homo sapiens (human)

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