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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 **3976 - 4000** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:11014	anorectal stricture Aliases: Stenosis of rectum and anus	AKR1A1 ENO2 FREM1 PIGV	10327 158326 2026 55650	Homo sapiens (human)	DisGeNET
DOID:0090003	agenesis of the corpus callosum with peripheral neuropathy Aliases: Andermann syndrome Charlevoix disease corpus callosum agenesis-neuronopathy syndrome	ACACA 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 31 3931 4051 4099 410 4534 51196 5230 5236 5332 5621 5631 5743 821 84649 847 8898 9517 960 9896	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0070202	familial partial lipodystrophy type 2 Aliases: FPLD2 familial lipodystrophy of limbs and lower trunk familial partial lipodystrophy Dunnigan type reverse partial lipodystrophy	LPL	4023	Homo sapiens (human)	DisGeNET
DOID:8654	Hodgkin's lymphoma, mixed cellularity Aliases: Hodgkin's disease, mixed cellularity	ACE ACSBG1 ALG1 ALOX15 ALOX5 ANXA5 B3GAT1 CALR CD14 CD38 CD44 CDH13 CHI3L1 CLEC16A CYP2C9 CYP3A4 ENPP2 FCER2 FCGR3B FUT4 GAPDH GLO1 HABP4 HEXA HJV HPGDS HPSE ICAM1 ISYNA1 KDSR KL KLRK1 LGALS1 LGALS3 LGALS9 LIPC LPL LY6G6D LY75 MBL2 MICA MRC1 MUTYH NAAA NAMPT NCAM1 OGG1 OPCML PAFAH1B1 PC PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 RENBP SCD SDC1 SELL SIGLEC7 SIRT6 SLC35B2 SMUG1 SOAT1 SPHK1 STS TM7SF2 UGT1A1	100507436 1012 10135 10855 1116 148738 1559 1576 1636 2208 2215 22914 22927 23205 23274 23583 240 246 2526 2531 2597 27036 27087 27163 27306 2739 3073 308 3383 347734 3956 3958 3965 3990 4023 4065 412 4153 4360 4595 4684 4968 4978 5048 5091 51477 51548 5168 5290 5291 5293 5294 54658 56052 5728 5743 58530 5973 6319 6382 6402 6646 7108 811 8877 929 9365 952 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:5604	adult acute lymphocytic leukemia Aliases: adult ALL adult acute lymphoid Leukemia	ABO ACSS2 AKR1B1 AKR1C3 ALPI ALPP ANXA5 APRT B3GAT1 CAT CD22 CD33 CD38 CD44 CD48 CD55 CD72 CEL CERS6 CHI3L1 CNTFR CYP1A1 CYP2B6 CYP2E1 CYP3A4 CYP3A5 CYP4F3 ENO2 EXT1 FADS1 FH FUT4 G6PD GAD1 GGT1 HK1 HPGDS HPRT1 ICAM1 IDH1 IDH2 IL18R1 IL1RL1 LIPA LSS MBL2 MSLN MTAP NAAA NCAM1 NT5E PARP9 PIK3C2B PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2A PLA2G15 PRKAA2 PRPS1 PTEN SELE SFTPD SHMT1 SLC27A5 SOAT1 SPHK2 UMOD UNG	10232 1056 10998 1116 1271 1543 1555 1571 1576 1577 1604 2026 2131 2271 231 23659 248 250 2526 253782 2539 2571 2678 27087 27163 27306 28 308 3098 3251 3383 3417 3418 353 3988 3992 4047 4051 4153 4507 4684 4907 5287 5290 5291 5293 5294 5305 5563 55902 5631 56848 5728 6401 6441 6470 6646 7369 7374 83666 847 8644 8809 9173 933 945 952 960 962 971	Homo sapiens (human)	DisGeNET
DOID:4226	endometrial stromal sarcoma Aliases: ESS Undifferentiated endometrial sarcoma endometrial stromal sarcoma, high grade	CYP19A1 HPRT1 NCAM1 TKTL1	1588 3251 4684 8277	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0111442	optic atrophy 9 Aliases: OPA9	ACO2	50	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0111218	Friedreich ataxia 1 Aliases: FA1 FRDA1	ACO2 CAT GAA GPAA1 GPX1 HPGDS ICAM1 LPL PIP5K1B PRKAA2 VCAM1	2548 27306 2876 3383 4023 50 5563 7412 8395 847 8733	Homo sapiens (human)	DisGeNET
DOID:0110744	type 1 diabetes mellitus 5 Aliases: IDDM5 Insulin-Dependent Diabetes Mellitus 5	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:1076	chronic pyelonephritis	CD55 NAGLU UMOD	1604 4669 7369	Homo sapiens (human)	DisGeNET
DOID:3540	choroid plexus cancer Aliases: tumor of choroid plexus tumor of the Choroid Plexus	ENPP2 PLAUR	5168 5329	Homo sapiens (human)	DisGeNET
DOID:0090140	cortisone reductase deficiency 2 Aliases: CORTRD2	HSD11B1	3290	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:718	autoimmune hemolytic anemia Aliases: Autoimmune haemolytic anaemia autoimmune hemolytic anaemia	ABO ANXA5 B3GAT1 CD48 CD55 FCGR3B HMMR LYPLA1 MBL2 OCRL PNP	10434 1604 2215 27087 28 308 3161 4153 4860 4952 962	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:8483	retinal artery occlusion	CYP1B1	1545	Homo sapiens (human)	DisGeNET
DOID:9854	lingual-facial-buccal dyskinesia Aliases: Oro-facial dyskinesia	ACE ACHE ACO2 AGA ALDH5A1 ALDH7A1 ATP6V1A B3GALNT2 B4GALNT1 COMT CYB5R3 CYP17A1 CYP1A2 CYP21A2 CYP2B6 CYP3A4 CYP3A5 CYP4F3 DHCR7 DHDDS ECHS1 FOLR2 G6PD GAD1 GBA1 GCDH GFRA2 GLUL GPX1 HEXA HEXD HPGDS HPRT1 HSPG2 INPP5K LMAN2L MAN1B1 MAN2B1 MBOAT7 MECR MYORG NDST1 NGLY1 NTNG1 OGA OGDH PAFAH1B1 PDHA1 PGAP1 PGAP3 PGP PIGC PIGN PIGP PIGQ PIK3CA PIP4K2A PIP4K2C PLB1 PMM2 PPT1 PRNP PSAP PTEN RENBP SGSH SLC26A2 SLC2A3 SLC35A1 ST3GAL3 ST3GAL5 SUCLA2 SYNJ1 TECR TPI1 TUSC3	10559 10724 11253 1312 148789 151056 1544 1555 1576 1577 1586 1589 1636 1717 1727 175 1836 1892 22854 2350 23556 2539 2571 2583 2629 2639 2675 27306 2752 283871 284004 2876 3073 3251 3339 3340 4051 4125 43 4967 50 501 5048 51102 51227 5160 51763 523 5279 5290 5305 5373 5538 55768 5621 5660 5728 57462 5973 6448 6487 6515 7167 79143 7915 79837 7991 79947 80055 81562 8803 8867 8869 9091 93210 9524	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:3083	chronic obstructive pulmonary disease Aliases: COLD COPD chronic obstructive airway disease chronic obstructive lung disease	ACE ACHE ACLY ACOT7 ACSS2 ADIPOQ AGPAT3 ALDH2 ALOX15 ALPI ALPP ANXA5 ARSA ARSB C1GALT1 CALR CAT CD14 CD1D CD33 CD38 CD74 CDH13 CEACAM5 CEL CH25H CHI3L1 CHIT1 CLEC7A CNTN4 COMT CS CYP1A1 CYP1A2 CYP1B1 CYP2B6 CYP2E1 CYP3A5 CYP7B1 DCN DHCR24 EPHX2 FDPS FUT8 GAD1 GALC GALNS GALNT13 GLA GLB1 GM2A GPX1 GPX3 HAS2 HPGDS HSD11B1 HSD17B6 HTR2A HYAL1 ICAM1 IDS IL18R1 IL1RAP IL1RL1 INPP5D ISYNA1 ITPK1 KL KLRK1 LAYN LEP LEPR LGALS3 LGALS9 LTC4S MBL2 MRC1 NT5E NTM OGG1 PARP1 PARP9 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G10 PLA2G15 PLA2G1B PLA2G2A PLA2G2D PLA2G4C PLAUR PLB1 PLCE1 POFUT1 PPARGC1A PRNP PTEN PTGDS PTGS1 PTGS2 RECK SARM1 SDC4 SDHB SELL SELP SFTPA1 SFTPA2 SFTPC SFTPD SGPL1 SGSH SIGLEC8 SIGLEC9 SIRT2 SIRT6 SLC27A5 SLC2A4 SLC35F3 SMPD1 SMPD3 SMUG1 SOAT1 SORD SPAM1 SPHK1 STS SUMF1 TLR4 TM7SF2 TNF TNFRSF10C UGCG VCAN	1012 1048 1056 10891 10998 1116 1118 11332 114805 1312 142 1431 143903 1462 148641 151056 152330 1543 1544 1545 1555 1571 1577 1634 1636 1718 2053 217 2224 22914 22933 23098 23509 23583 23659 246 248 250 2530 2571 2581 2588 26279 2717 27180 27181 2720 27306 2760 285362 2876 2878 3037 308 3290 3356 3373 3383 3423 3556 3635 3705 3952 3953 3958 3965 4056 410 411 412 4153 43 4360 47 4907 4968 50863 51196 51477 51548 5290 5291 5293 5294 5319 5320 5329 55512 55902 5621 56894 56913 5728 5730 5742 5743 6385 6390 6402 6403 6440 6441 6448 64581 6517 653509 6609 6646 6652 6677 7099 7108 7124 729238 7357 811 83666 8399 8434 847 8605 8630 8794 8809 8877 8879 9023 912 9173 929 9365 9370 9420 945 952 972	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:2275	pharyngitis Aliases: Inflamed throat Persistent sore throat Pharyngeal disorder Pharyngitis - acute Sore throat - chronic acute pharyngitis acute sore throat chronic pharyn/nasopharyngitis chronic pharyngitis chronic pharyngitis and nasopharyngitis chronic sore throat	CYP2C19 GALNS PTGS2 UGCG	1557 2588 5743 7357	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0080283	developmental and epileptic encephalopathy 55 Aliases: DEE55 GPIBD14 early infantile epileptic encephalopathy 55 glycosylphosphatidylinositol biosynthesis defect 14	PIGP	51227	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0050581	brachydactyly	MGAM MGAT3 PARP1 SI SLC26A2	142 1836 4248 6476 8972	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:11634	myxedema	ACE ACHE ALG8 ANXA5 ARSA ASAH1 B3GLCT BAAT CAT CDH13 COMT CPT1C CYP19A1 CYP2B6 EFNA5 ENO2 ENPP1 EXT2 FADS2 FASN FUCA1 G6PD GAS1 GLUL GNE GPC1 GPX1 HJV HSD17B3 HSD3B1 INPP5B L1CAM LGALS3 LIPC MBL2 MPDU1 NCAM1 PIK3C2A PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G2A PLOD3 PMM2 PNPLA3 PRKAA2 PTEN PTGS2 SGPL1 SLC2A12 SLC2A3 SLC2A8 SMUG1 SRD5A1 SRD5A3	10020 1012 126129 1312 145173 148738 154091 1555 1588 1636 1946 2026 2132 2194 23583 2517 2539 2619 2752 2817 2876 29988 308 3283 3293 3633 3897 3958 3990 410 4153 427 43 4684 5167 5286 5289 5290 5291 5293 5294 5320 5373 5563 570 5728 5743 6515 6715 79053 79644 80339 847 8879 8985 9415 9526	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0111052	Scott syndrome Aliases: BDPLT7 SCTS bleeding abnormality due to deficiency of platelet biding of factor X familial prothrombin consumption inhibitor familial prothrombin conversion defect platelet-type bleeding disorder 7 prothrombin consumption deficiency	ANXA5	308	Homo sapiens (human)	DisGeNET
DOID:0081002	Cowden syndrome 6	AKT1	207	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070330	multiple mitochondrial dysfunctions syndrome Aliases: fatal multiple mitochondrial dysfunction syndrome	GCSH	2653	Homo sapiens (human)	Alliance of Genome Resources
DOID:12305	Bloch-Sulzberger syndrome Aliases: Incontinentia pigmenti Incontinentia pigmenti syndrome	ACACA CD38 CEL CHIT1 CLEC7A COLEC11 CYP1B1 CYP51A1 G6PD IL1R1 MASP1 MPG NSDHL PARP9 SFTPD SLC27A5 SMUG1	1056 10998 1118 1545 1595 23583 2539 31 3554 4350 50814 5648 6441 64581 78989 83666 952	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:0080191	PTEN hamartoma tumor syndrome	PIK3CA PIK3CB PIK3CD PIK3CG PTEN	5290 5291 5293 5294 5728	Homo sapiens (human)	DisGeNET Alliance of Genome Resources

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