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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 **3351 - 3375** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0060543	Hermansky-Pudlak syndrome 5	PRKAA2	5563	Homo sapiens (human)	DisGeNET
DOID:0110745	type 1 diabetes mellitus 6 Aliases: IDDM6 Insulin-Dependent Diabetes Mellitus 6	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)	DisGeNET DisGeNET
DOID:6868	mediastinal malignant lymphoma Aliases: Lymphoma of mediastinum	CMAS SMUG1	23583 55907	Homo sapiens (human)	DisGeNET
DOID:0050646	distal arthrogryposis Aliases: Arthrogryposis Multiplex Congenita	ACADM ACOT7 ACSS2 AGXT ALDH1A3 ALOX15 ALOX5 ALPP ANXA5 APRT ATRNL1 CAT CD14 CD44 CEACAM5 CEACAM7 CHI3L1 CHST14 CNTN3 CYP19A1 CYP1A2 CYP2B6 EFNA1 ENO1 FBP1 FCGR3B FIG4 FUT1 GGT1 GPC3 GPNMB HK2 ICAM1 IDH1 IDH2 KLRK1 LDHA LGALS1 LGALS3 MCAT MICA MRC1 MSLN MUTYH NEIL1 OGG1 OPCML PAFAH1B1 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PKD2 PKM PLA2G15 PLA2G4A PLA2G7 PSMD10 PTEN PTGES PTGS2 RECK SCP2 SIRT2 SMUG1 SPHK1 STS TNFRSF10C UNG	100507436 10232 10457 1048 1087 1116 113189 11332 142 1544 1555 1588 189 1942 2023 220 2203 2215 22914 22933 23583 23659 240 246 250 2523 26033 2678 2719 27349 308 3099 3383 34 3417 3418 353 3939 3956 3958 412 4360 4595 4968 4978 5048 5067 5290 5291 5293 5294 5311 5315 5321 55902 5716 5728 5743 6342 7374 7941 79661 8434 847 8794 8877 929 9536 960 9896	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:1802	mononeuritis	SDHD	6392	Homo sapiens (human)	DisGeNET
DOID:0090020	split hand-foot malformation Aliases: lobster-claw deformity split-hand deformity	QTRT1 UGT8	7368 81890	Homo sapiens (human)	DisGeNET
DOID:10375	strabismic amblyopia Aliases: suppression amblyopia	B3GAT3 CHST3 COL9A2 GALC GMPPB OCRL OGT PIGN XYLT2	1298 23556 2581 26229 29925 4952 64132 8473 9469	Homo sapiens (human)	DisGeNET
DOID:289	endometriosis	ACACA ACE AKR1B1 AKR1C1 AKR1C2 AKR1C3 ALOX5 ALPI ALPP ARSD CAT CD44 CD48 CD55 CD74 CHST3 COMT CPM CYP11A1 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP21A2 CYP2B6 CYP2C19 CYP2R1 CYP3A4 CYP4F3 DCN DHRS11 ENO1 ENPP1 ENPP3 EXTL3 FCGR3B GALNT3 GALNT6 GALT GBA1 GPNMB GPX3 HAS1 HK1 HPGDS HPRT1 HPSE HS3ST3B1 HSD11B2 HSD17B1 HSD17B2 HSD17B3 HSD17B7 HSD3B1 HSD3B2 HYAL2 ICAM1 IL18R1 IL1R1 IL1RAP IMPA2 KLRC1 KLRK1 LGALS1 LGALS3 LGALS4 LGALS9 LIPC LIPG MRC1 NCAM1 NT5E OGG1 PARP1 PDIA3 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G2A PLCB1 PLCB4 PPT1 PSMD10 PTEN PTGES PTGS2 SDC4 SELE SELL SIGLEC7 SLC2A3 SLC2A4 SLC33A1 SMPDL3A SRD5A1 SRD5A2 STS SUCLG2 SULF2 SULT1E1 TECR TNF TYMP UST VCAM1 VCAN	10090 10457 10855 10924 11226 120227 1312 1368 142 1462 1543 1544 1545 1555 1557 1576 1583 1586 1588 1589 1604 1634 1636 1645 1646 1890 2023 2137 2215 22914 231 23236 240 248 250 2591 2592 2629 27036 27306 2878 2923 3036 3098 31 3251 3283 3284 3291 3292 3293 3294 3383 3554 3556 3613 3821 3956 3958 3960 3965 3990 4051 412 414 4360 4684 4907 4968 51478 5167 5169 5290 5291 5293 5294 5320 5332 5538 55959 5716 5728 5743 6385 6401 6402 6515 6517 6715 6716 6783 7124 7412 79154 847 8644 8692 8801 8809 9197 9388 9469 9524 9536 960 962 972 9953	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0110789	hereditary spastic paraplegia 38 Aliases: SPG38 autosomal dominant spastic paraplegia 38 autosomal dominant spastic paraplegia type 38	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)	DisGeNET
DOID:4454	childhood kidney cell carcinoma Aliases: pediatric renal cell carcinoma	CD44 COMT CYP1A1 CYP1B1 FH LGALS3 PTEN SDHB SMUG1 SORD VCAN	1312 1462 1543 1545 2271 23583 3958 5728 6390 6652 960	Homo sapiens (human)	DisGeNET
DOID:3565	meningioma Aliases: meningeal neoplasm meningothelial cell tumor neoplasm of the meninges primary Meningeal tumor	ALDH1A3 ALOX5 ALPL CAT CD33 CD44 CD55 CYP19A1 CYP1A1 CYP1B1 CYP2C9 CYP2E1 CYP4F3 DHCR24 ENO2 FASN FCGR3B FOLR1 GAPDH GPX1 HPGDS HPRT1 IDH1 IDH2 IL18R1 LARGE1 LDHA LGALS1 LGALS3 MMP25 MMUT MSLN MUTYH NT5E NTHL1 OGA PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G2A PLA2G6 PLA2G7 PLAUR PLB1 PTEN PTGDS PTGS1 PTGS2 SCP2 SDHB SDHC SDHD SMUG1 SOAT1 STS TIPARP TMEM165 TNKS VCAN	10232 10724 1462 151056 1543 1545 1559 1571 1588 1604 1718 2026 2194 220 2215 2348 23583 240 249 2597 25976 27306 2876 3251 3417 3418 3939 3956 3958 4051 412 4594 4595 4907 4913 5290 5291 5293 5294 5319 5320 5329 55858 5728 5730 5742 5743 6342 6390 6391 6392 64386 6646 7941 8398 847 8658 8809 9215 945 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:11269	chronic apical periodontitis	ALOX5 CD14 ICAM1 SIRT2 SIRT6	22933 240 3383 51548 929	Homo sapiens (human)	DisGeNET
DOID:10939	antisocial personality disorder Aliases: Asocial personality Dissocial personality disorder Psychopath.personality Psychopathic personality Psychopathic personality disorder sociopathic personality	ACE ADH1B ALDH2 CAT COMT CYP2E1 EXT1 GAD1 IMPA1	125 1312 1571 1636 2131 217 2571 3612 847	Homo sapiens (human)	DisGeNET DisGeNET
DOID:2346	monoclonal paraproteinemia Aliases: Monoclonal paraproteinaemia	CD38 HAS1 MAG NCAM1 PRSS21 SDC1	10942 3036 4099 4684 6382 952	Homo sapiens (human)	DisGeNET
DOID:5246	obsolete hilar cholangiocellular carcinoma	HK1 PIK3CA PIK3CB PIK3CD PIK3CG PKM SDC2 SMUG1	23583 3098 5290 5291 5293 5294 5315 6383	Homo sapiens (human)	DisGeNET
DOID:0110220	Brugada syndrome 3 Aliases: BRGDA3	APRT CACNA2D1 GPD1L IDS SCD	23171 3423 353 6319 781	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:3744	cervical squamous cell carcinoma Aliases: squamous cell carcinoma of cervix squamous cell carcinoma of the Cervix Uteri	AGA AGK ANXA5 CALR CANX CD109 CD44 CHPT1 DHDDS EPHX2 FOLR1 HPSE IL18R1 ITPKC LGALS1 MSLN MUTYH OGG1 PDIA3 PIK3CA PIK3CB PIK3CD PIK3CG PTEN SELE SMUG1 ST3GAL1 ST3GAL3 ST3GAL4 ST6GAL1 TM7SF2 TP53 TYMP UGT1A1	10232 10855 135228 175 1890 2053 2348 23583 2923 308 3956 4595 4968 5290 5291 5293 5294 54658 55750 56994 5728 6401 6480 6482 6484 6487 7108 7157 79947 80271 811 821 8809 960	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0050882	spinocerebellar ataxia type 5	ELOVL5	60481	Homo sapiens (human)	DisGeNET
DOID:0080554	congenital disorder of glycosylation Ib Aliases: congenital disorder of glycosylation 1b	MPI PMM2	4351 5373	Homo sapiens (human)	Glyco-Disease Genes Database DisGeNET Alliance of Genome Resources
DOID:0080108	myoglobinuria	CPT2 HADH HADHA HADHB LDHA LPIN1 LPIN2 LPIN3 PGAM2 PGK1 PYGM	1376 23175 3030 3032 3033 3939 5224 5230 5837 64900 9663	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:0060330	Rapp-Hodgkin syndrome Aliases: RHS anhidrotic ectodermal dysplasia with cleft lip/palate ectodermal dysplasia syndrome, Rapp-Hodgkin type ectodermal dysplasia, Rapp-Hodgkin type	DHCR7	1717	Homo sapiens (human)	DisGeNET
DOID:0090076	hypogonadotropic hypogonadism 18 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)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:9278	hyperargininemia Aliases: Arginase deficiency argininemia deficiency of canavanase	ARSD	414	Homo sapiens (human)	DisGeNET
DOID:2935	Chediak-Higashi syndrome Aliases: CHS Chediak - Steinbrinck anomaly	ABO ANXA5 IDH1 IDH2 LTC4S PRKAA2 PRNP	28 308 3417 3418 4056 5563 5621	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0002116	pterygium Aliases: surfer's eye	ACE ALDH3A1 CAT CYP1A1 G6PD GPC6 ICAM2 IL1R1 OGG1 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PLD1 PTEN PTGS2 SEMA7A ST3GAL3 TP53	10082 1543 1636 218 2539 3384 3554 4968 5130 5290 5291 5293 5294 5337 5728 5743 6487 7157 847 8482	Homo sapiens (human)	DisGeNET Alliance of Genome Resources

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