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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 **1551 - 1575** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:5077	subependymal giant cell astrocytoma Aliases: SEGA	ACHE ACSL5 ADH1A ADH1B ADH1C ADH4 ADH6 AKR1A1 AKR1B1 AKR1C3 ALOX5 APRT ATRN B3GAT1 BDH2 BST2 CALR CAT CD248 CD44 CD55 CD74 CHI3L1 CHST15 CNTN2 CS CYP1B1 CYP4F3 ENPP1 EXT1 FCN2 FKTN G6PD GLB1 GOLPH3 HAS2 HJV HMMR HPGDS HPSE ICAM1 IDH1 IDH2 LGALS3 LGALS4 MMP25 MRC1 NEU1 PARP1 PFKFB3 PFKFB4 PGAM1 PGK1 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLA2G10 PLA2G2A PLA2G4A PLB1 PLCB1 PLD1 PLD2 PRNP PRPS1 PTEN PTGDS PTGES PTGS2 RECK RTN4R SDC4 SDHA SGPL1 SLC2A3 SMUG1 SPHK2 ST8SIA2 ST8SIA4 STS TM7SF2 TNKS TYMP VCAM1 VCAN XYLT1	10327 10855 1116 124 125 126 127 130 142 1431 1462 148738 151056 1545 1604 1890 2131 2218 2220 231 23236 23583 240 2539 27087 2720 27306 3037 3161 3383 3417 3418 353 3958 3960 4051 412 43 4360 4758 51363 5167 51703 5209 5210 5223 5230 5290 5291 5293 5294 5310 5320 5321 5337 5338 5621 5631 56848 56898 57124 5728 5730 5743 6385 6389 64083 64131 64386 65078 6515 684 6900 7108 7412 7903 811 8128 8399 8434 8455 847 8644 8658 8879 9536 960 972	Homo sapiens (human)
DOID:12960	acrocephalosyndactylia Aliases: Apert syndrome	PIK3CA PIK3CB PIK3CD PIK3CG	5290 5291 5293 5294	Homo sapiens (human)
DOID:0050956	spinocerebellar ataxia type 6	ELOVL5 MPI	4351 60481	Homo sapiens (human)
DOID:12129	bulimia nervosa Aliases: hyperorexia nervosa	ACACA AGPAT2 CALR CHODL COMT EFNA5 HGSNAT MAN1B1 SLC3A1 ST8SIA4	10555 11253 1312 138050 140578 1946 31 6519 7903 811	Homo sapiens (human)
DOID:0110756	type 1 diabetes mellitus 19 Aliases: IDDM19 Insulin-Dependent Diabetes Mellitus 19	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)
DOID:2975	cystic kidney disease Aliases: renal Cyst	ALG8 ALG9 ARF4 CEL FH GPC3 HSD17B1 HSD17B4 INPP5E PIGT PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKD2 PMM2 POMT2 PRKCSH PTEN UGCG UMOD	1056 2271 2719 29954 3292 3295 378 51604 5290 5291 5293 5294 5310 5311 5373 5589 56623 5728 7357 7369 79053 79796	Homo sapiens (human)
DOID:11847	coronary thrombosis Aliases: Coronary artery thrombosis	ABO ACACA ACACB ACE ACHE ACOT7 ACSL1 ACSL5 ACSL6 ACSS1 ACSS2 ADH1B ADH1C ADH5 AGPAT2 AKR1A1 AKR1D1 ALDH2 ALOX12 ALOX15 ALOX5 ANXA5 ANXA7 APRT ARSA ATP6AP2 B3GNT2 BAAT CALR CANX CAT CD14 CD44 CD93 CDH13 CEACAM5 CEACAM7 CHAT CHGA CHI3L1 CLEC16A CLEC4E CLEC6A COMT CPT1A CPT1B CPT2 CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP27A1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP2J2 CYP2R1 CYP3A4 CYP4A11 CYP4F2 CYP4F3 CYP7A1 DAG1 DCN DEGS1 DGCR2 DGKA DGKZ DHCR24 DLD EFNA1 ELOVL2 ELOVL4 ELOVL5 ELOVL6 ENO1 ENO2 ENPP1 EPHX2 FADS2 FBP1 FCGR3B FCN1 FCN2 FCN3 FOLR1 FOLR2 FUT4 FUT7 G6PD GAL3ST1 GFPT2 GGT1 GLA GLO1 GPI GPLD1 GPNMB GPX1 GPX3 GYS1 HADH HK2 HPGDS HPSE2 HPSE HSD11B1 HSD11B2 ICAM1 IGF2R IL18R1 ISYNA1 ITPK1 KL KLRK1 LARGE2 LCAT LCT LDHA LGALS1 LGALS2 LGALS3 LIPA LIPC LIPG LPL LTA4H LTC4S MAG MASP1 MBL2 MDH2 MGLL MICA MPI MTAP NAMPT NANS NCAM1 NDST1 NEIL3 NT5E NTM OGA OGG1 OLR1 PARP1 PC PCYT1A PDHB PIGA PIGQ PIK3C2A PIK3C2G PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKM PLA2G15 PLA2G1B PLA2G2A PLA2G3 PLA2G4A PLA2G6 PLA2G7 PLAUR PLB1 PLCB1 PLCB2 PLCB3 PLD1 PLPP3 PMM2 PNPLA2 POFUT1 PRKAA2 PRNP PSMD10 PTEN PTGDS PTGES PTGIS PTGS1 PTGS2 PYGB RENBP SDC1 SDC4 SELE SELL SELP SIRT2 SIRT4 SIRT6 SLC2A10 SLC2A4 SLC33A1 SLC35A1 SLC3A1 SLC5A1 SMPD1 SMPD2 SMPD4 SMUG1 SOAT1 SPTLC2 ST3GAL4 ST6GALNAC1 SULT1E1 TBXAS1 TM7SF2 TMED5 TMTC3 UGGT2 UGT1A1 VCAM1 VCAN XYLT2	100507436 1012 10135 10159 10327 10457 1048 10555 10559 10678 10724 10855 1087 1103 1113 1116 11332 11343 120071 120227 125 126 128 1312 1374 1375 1376 142 1462 151056 1543 1544 1545 1555 1557 1558 1559 1573 1576 1579 1581 1584 1585 1586 1588 1593 160418 1605 1606 1634 1636 1718 1738 1942 2023 2026 2053 217 2180 2203 2215 2219 2220 22914 22918 22933 23236 23274 23305 23409 2348 2350 23509 23583 23659 239 240 246 2526 2529 2539 26253 2678 2717 27306 2739 28 2821 2822 2876 2878 2997 3033 308 3099 31 310 32 3290 3291 3340 3383 3482 353 3705 3931 3938 3939 3956 3957 3958 3988 3990 4023 4048 4051 4056 4099 410 4153 4191 43 4351 4507 4684 4907 4968 4973 50487 50863 5091 50999 5130 51477 51548 5162 5167 51703 5277 5286 5288 5290 5291 5293 5294 5310 5315 5319 5320 5321 5329 5330 5331 5337 5373 54187 54658 54898 55247 55627 5563 55757 55808 55902 5621 5648 570 57104 5716 5728 5730 5740 5742 5743 5834 5973 60481 60495 6382 6385 6401 6402 6403 64132 6484 6517 6519 6523 6609 6610 6646 6718 6783 6785 6916 7108 7412 79071 7941 81031 811 821 8398 84532 847 8525 8529 8547 8560 8613 8809 9091 9197 929 9365 9388 93978 9415 9514 9517 9536 960 9945 9993	Homo sapiens (human)
DOID:3777	granuloma annulare Aliases: Granulome annulare	ACSL4 AKR1A1 ALDH2 ALDH3A2 CLEC7A COL9A2 EBP ELOVL4 GAPDH ICAM1 KDSR NSDHL PGM3 PIGL PLCG2 PTGS2 RENBP SOAT1 ST3GAL4 SULT2B1	10327 10682 1298 217 2182 224 2531 2597 3383 50814 5238 5336 5743 5973 64581 6484 6646 6785 6820 9487	Homo sapiens (human)
DOID:0050633	ocular albinism 1 Aliases: Albinism ocular 1 ocular albinism	STS	412	Homo sapiens (human)
DOID:0110445	dilated cardiomyopathy 1KK Aliases: CMD1KK	ACADVL ACE BDH1 CHKB CPT2 DAG1 DOLK FASN FKRP FKTN GLB1 GPX1 HACD1 HADH HADHA HADHB HJV HMGCL HPRT1 LDHA LGALS3 LPL MDH1 MICA MTM1 NAMPT NCAM1 NDUFAB1 PCYT1A PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G7 POMT2 RENBP SDHA SDHD SLC2A10 SLC2A4	100507436 10135 1120 1376 148738 1605 1636 2194 2218 22845 2720 2876 29954 3030 3032 3033 3155 3251 37 3939 3958 4023 4190 4534 4684 4706 5130 5236 5290 5291 5293 5294 5973 622 6389 6392 6517 79147 7941 81031 9200	Homo sapiens (human)
DOID:0060476	Perlman syndrome Aliases: nephroblastomatosis - fetal ascites - macrosomia - Wilms tumor nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor renal hamartomas, nephroblastomatosis and fetal gigantism	ARSD ASAH1 CD48 CSPG5 GPC3 IGF2R IL1RL1 LGALS1 PGAP2 PIK3CA SMUG1	10675 23583 2719 27315 3482 3956 414 427 5290 9173 962	Homo sapiens (human)
DOID:0110729	neuronal ceroid lipofuscinosis 6A Aliases: CLN6 neuronal ceroid lipofuscinosis 6 neuronal ceroid lipofuscinosis 6 variable age of onset	ACLY ARSG CLN5 EPM2A GAD1 GAD2 LGALS1 PKD1 PPT1 PPT2 PSAP SMPD1	1203 22901 2571 2572 3956 47 5310 5538 5660 6609 7957 9374	Homo sapiens (human)
DOID:0112349	hereditary spastic paraplegia 81 Aliases: SPG81 autosomal recessive complex SPG due to Kennedy pathway dysfunction autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction spastic paraplegia 81 autosomal recessive	SELENOI	85465	Homo sapiens (human)
DOID:0090117	thiamine-responsive megaloblastic anemia syndrome Aliases: Rogers syndrome THMD1 TRMA thiamine metabolism dysfunction syndrome 1 thiamine-responsive anaemia syndrome thiamine-responsive anemia syndrome thiamine-responsive megaloblastic anaemia syndrome thiamine-responsive megaloblastic anaemia with diabetes mellitus and sensorineural deafness thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness thiamine-responsive myelodysplasia	TKT	7086	Homo sapiens (human)
DOID:4772	obsolete mesoblastic nephroma	GPC3	2719	Homo sapiens (human)
DOID:786	laryngeal disease	ACAN AKR1A1 ALDH2 CALR CEACAM6 CYP1A1 CYP2B6 DCN DPEP1 DPEP2 DPEP3 EBP GALC HPGDS MPI MRC1 NT5E PTGS2 SGPL1 SHMT1 SMUG1 UGT1A7 UGT2A1 VCAM1 VCAN	10327 10682 10941 1462 1543 1555 1634 176 1800 217 23583 2581 27306 4351 4360 4680 4907 54577 5743 64174 64180 6470 7412 811 8879	Homo sapiens (human)
DOID:6082	childhood testicular germ cell tumor Aliases: paediatric testicular germ cell neoplasm paediatric testicular germ cell tumour pediatric testicular germ cell neoplasm pediatric testicular germ cell tumor	HPGDS MRC1 PIK3CA PIK3CB PIK3CD PIK3CG PSMD10 PTEN	27306 4360 5290 5291 5293 5294 5716 5728	Homo sapiens (human)
DOID:0111377	fetal akinesia deformation sequence syndrome 1 Aliases: FADS1	AGRN CNTN1 DPAGT1 GBA1 GBE1 PDHA1 PIGS	1272 1798 2629 2632 375790 5160 94005	Homo sapiens (human)
DOID:11258	cat-scratch disease Aliases: Debre's Syndrome Debre-Mollaret Syndrome Foshay-Mollaret Cat Scratch Fever benign lymphoreticulosis cat scratch fever	CALR PTGS2 SMUG1	23583 5743 811	Homo sapiens (human)
DOID:12388	neurohypophyseal diabetes insipidus Aliases: Pituitary diabetes insipidus Vasopressin deficiency vasopressin defective diabetes insipidus	ACOT8 ACSS2 ATP6AP2 CRYL1 CYP2E1 GLA GLB1 H6PD HAS2 MBL2 OCRL PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PRPS1 PTEN	10005 10159 1571 23659 2717 2720 3037 4153 4952 51084 5290 5291 5293 5294 55902 5631 5728 9563	Homo sapiens (human)
DOID:0050564	autosomal dominant nonsyndromic deafness Aliases: autosomal dominant deafness	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PI4KB PSAP TECTA	135228 146183 220074 22856 25839 340990 410 50 51 5298 5660 7007	Homo sapiens (human)
DOID:0110231	cataract 1 multiple types Aliases: CTRCT1 Duffy linked cataract cataract 1, multiple types, with or without microcornea	AGK ALDH7A1 CRYL1 CYP27A1 GALK1 GCNT2 GPC5 INPP5K LSS OCRL PTEN SLC33A1 SORD	1593 2262 2584 2651 4047 4952 501 51084 51763 55750 5728 6652 9197	Homo sapiens (human)
DOID:0110520	autosomal recessive nonsyndromic deafness 7 Aliases: DFNB11 DFNB7 autosomal recessive deafness 7	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:3314	angiomyolipoma	ABO CSPG4 LGALS3 MELTF OGG1 PKD1 PTEN SMUG1	1464 23583 28 3958 4241 4968 5310 5728	Homo sapiens (human)
DOID:1564	fungal infectious disease Aliases: mycosis	CLEC12A CLEC6A CLEC7A CYP51A1 ICAM1 IGF2R IMPA1 MBL2 NCAM1 PFKFB3 PRG2 SMUG1	1595 160364 23583 3383 3482 3612 4153 4684 5209 5553 64581 93978	Homo sapiens (human)

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