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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 **2901 - 2925** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:0060463	NUT midline carcinoma Aliases: nuclear protein in testis midline carcinoma	PIK3CA PIK3CB PIK3CD PIK3CG	5290 5291 5293 5294	Homo sapiens (human)
DOID:3368	Ewing sarcoma of bone Aliases: Ewing's sarcoma/bone peripheral primitive neuroectodermal tumor bone Ewing sarcoma bone localized Ewing sarcoma bone localized Ewing's sarcoma localized Skeletal Ewing's sarcoma	NEU1 SMUG1	23583 4758	Homo sapiens (human)
DOID:1289	neurodegenerative disease Aliases: degenerative disease	ACADM ACE ACHE ACO2 ACOX1 ACSBG1 ADPRS AGPAT3 AKR1A1 ALDH2 ALOX12 ALOX5 ALPP ARSA ASAH1 ATP6AP2 ATRNL1 B3GAT1 CAT CCDC115 CD14 CD33 CD38 CHAT CHGA CHI3L1 CHIT1 CLEC10A CLEC16A CLN5 CNTN2 COLEC11 COMT CYP19A1 CYP27A1 CYP2B6 CYP2U1 CYP46A1 CYP7B1 DAG1 DEGS1 DEGS2 DHCR24 DLST ELOVL4 ENO2 EPM2A FCN2 FDPS FIG4 FOLR2 G6PD GAA GAD1 GALC GAPDH GBA1 GDPD5 GLB1 GLO1 GLUL GM2A GPNMB GPX3 GUSB HEXA HEXB HIBCH HK1 HK2 HPGDS HPSE ICAM1 IDH2 INPPL1 KL L2HGDH LGALS3 LIPC LPL MANEAL MGLL MRC1 MTM1 MTMR2 MUTYH MYORG NAGLU NAGPA NAMPT NDUFAB1 OARD1 OGA OGDH OGG1 OGT PARP10 PARP1 PDIA3 PGP PIK3CA PIK3CB PIK3CD PIK3CG PKD2 PLA2G1B PLA2G2A PLA2G4A PLA2G5 PLA2G6 PLB1 PLCG2 PNP PNPLA6 PNPLA7 PPT1 PRKAA2 PRKAG2 PRKAG3 PRNP PTEN PTGES3 PTGES PTGS2 QPRT RENBP RPE SARM1 SCP2 SDHA SFTPA1 SGPL1 SGSH SI SIGLEC7 SIRT2 SIRT6 SLC17A5 SLC33A1 SMUG1 SPHK2 SPTLC1 SPTLC3 STS SUCLA2 SYNJ1 TIGAR TKT TMED9 TPI1 UNG VCAN	10135 10159 10327 10457 10462 10558 10724 10728 10855 10858 10908 1103 1113 1116 1118 11343 113612 1203 123099 1312 142 1462 149175 151056 1555 1588 1593 1605 1636 1718 1743 2026 217 221443 2220 2224 22933 23098 23205 23274 23475 2350 23583 239 240 250 2539 2548 2571 2581 2597 26033 26275 2629 26503 27036 27087 2720 27306 2739 2752 2760 283871 2878 2923 2990 3073 3074 3098 3099 3383 34 3418 3636 375775 3958 3990 4023 410 412 427 43 4360 4534 4595 4669 4706 4860 4967 4968 50 51 51172 51422 51548 5290 5291 5293 5294 5311 5319 5320 5321 5322 5336 53632 54732 54936 55304 5538 5563 5621 56848 56894 57103 5728 5743 57462 5973 6120 6342 6389 6448 6476 653509 6785 6900 7086 7167 7374 78989 7957 79944 81544 8398 84317 847 8473 84875 8560 8803 8867 8879 8898 9197 929 9365 9420 945 952 9536 9896	Homo sapiens (human)
DOID:0112136	severe congenital neutropenia 4 Aliases: Dursun syndrome SCN4 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome	G6PC3	92579	Homo sapiens (human)
DOID:4306	radiculopathy Aliases: pinched nerve	APRT TNF	353 7124	Homo sapiens (human)
DOID:0060224	atrial fibrillation Aliases: A-fib AFib	ABO ACADL ACE ACOT7 ACSS2 ADH1B AGPAT2 AKR1A1 ALDH2 AMACR ANXA4 ASAH1 ATP6AP2 CACNA2D1 CACNA2D4 CALR CAT CD14 CD44 CD55 CHAT CHGA CHI3L1 CNTN2 CNTN5 COG2 COG5 COL9A2 CPM CYP11B2 CYP1A2 CYP2C19 CYP2C9 CYP2J2 CYP3A4 CYP3A5 CYP4F2 DGKB DLD EFNA5 ENO2 EPHX2 FADS1 FADS2 FCGR3B GGT1 GLA GPD1L HSD11B1 HSD11B2 HSPG2 ICAM1 INPP5D INPPL1 ISYNA1 ITPK1 KCNQ1 KL LCAT LGALS3 LIPC NANS OLR1 PARP1 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PKD2 PLA2G15 PLA2G7 PLCG1 PPP1R3A PRSS21 PTGS2 RECK RENBP RGMB RPE SELE SELP SLC2A3 SLC33A1 SLC35F1 SLC35G1 SLC39A8 SMPD1 SMUG1 SOAT1 STS SULT1E1 TLR2 TNF UST VCAM1 XXYLT1	10090 10159 10327 10466 10555 10942 1103 1113 1116 11332 125 1298 1368 142 152002 1544 1557 1559 1573 1576 1577 1585 159371 1604 1607 1636 1738 1946 2026 2053 217 2215 222553 22796 23171 23583 23600 23659 2678 2717 28 285704 307 3290 3291 33 3339 3383 3635 3636 3705 3784 3931 3958 3990 3992 412 427 4973 5130 51477 5290 5291 5293 5294 5311 5335 53942 54187 5506 55902 5743 5973 6120 6401 6403 64116 6515 6609 6646 6783 6900 7097 7124 7412 781 7941 811 8434 847 8529 9197 929 93589 9365 9415 960	Homo sapiens (human)
DOID:0110434	dilated cardiomyopathy 1Z Aliases: CMD1Z	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:9827	radioulnar synostosis	ALDH2 B3GAT3 B4GALT7 CHST3 COLEC10 COLEC11 EXT1 EXT2 HSPG2 MASP1 PIK3CA PRKAA2 SMC3 UMOD XYLT1	10584 11285 2131 2132 217 26229 3339 5290 5563 5648 64131 7369 78989 9126 9469	Homo sapiens (human)
DOID:6245	renal oncocytoma Aliases: Oncocytoma of kidney renal epithelial Oncocytic tumor	AMACR CD44 HMMR HYAL4 LDHA PIK3CA PRSS8 PTGS2 SDC1 SLC2A2 SLC2A4	23553 23600 3161 3939 5290 5652 5743 6382 6514 6517 960	Homo sapiens (human)
DOID:0110179	Charcot-Marie-Tooth disease type 2B2 Aliases: AR-CMT2B2 ARCMT2B Autosomal recessive axonal CMT4C3 CMT2B2 Charcot-Marie-Tooth disease neuronal type 2B2 Charcot-Marie-Tooth neuropathy type 2B2 autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2	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:1759	American histoplasmosis	ATP6V1A LGALS1	3956 523	Homo sapiens (human)
DOID:9893	periodontosis	ALOX5 CD14 CYP1A1 DGKA FCGR3B GLT6D1 IL1R1 MBL2 MMP25 PAFAH1B1 PTGS2 SELE SIGLEC5 SMPD3 VCAM1	1543 1606 2215 240 3554 360203 4153 5048 55512 5743 6401 64386 7412 8778 929	Homo sapiens (human)
DOID:0110335	osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures	ALPL BAAT CD38 CD44 DCN PNPLA2 PTGS2 SMPD3	1634 249 55512 570 57104 5743 952 960	Homo sapiens (human)
DOID:0080490	mucolipidosis type IV	HEXA	3073	Homo sapiens (human)
DOID:6543	acne Aliases: Acne varioliformis acne vulgaris frontalis acne	ACE AGA CAT CHI3L1 COMT CYP17A1 CYP19A1 ENPP1 GALNS H6PD HSD17B3 HSD3B1 HSD3B2 L1CAM LPIN2 LPL LYZ PAPSS2 PTGS2 ST8SIA4 TLR2 TLR4 TNF XYLT1	1116 1312 1586 1588 1636 175 2588 3283 3284 3293 3897 4023 4069 5167 5743 64131 7097 7099 7124 7903 847 9060 9563 9663	Homo sapiens (human)
DOID:11555	Fuchs' endothelial dystrophy Aliases: FCED Fuchs' corneal dystrophy Fuchs' endothelial corneal dystrophy	NEIL1 PIK3CA PIK3CB PIK3CD PIK3CG	5290 5291 5293 5294 79661	Homo sapiens (human)
DOID:4202	brain stem glioma Aliases: Brainstem Neuroglial tumor	DHDDS IDH1 IDH2 PIK3CA	3417 3418 5290 79947	Homo sapiens (human)
DOID:0110765	hereditary spastic paraplegia 12 Aliases: SPG12 autosomal dominant spastic paraplegia 12 autosomal dominant spastic paraplegia type 12	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:0050734	congenital intrinsic factor deficiency Aliases: hereditary intrinsic factor deficiency	CLEC7A CYP2C19	1557 64581	Homo sapiens (human)
DOID:5511	dysgerminoma of ovary Aliases: Ovarian Dysgerminoma	ACE PTEN	1636 5728	Homo sapiens (human)
DOID:3535	Unverricht-Lundborg syndrome Aliases: Unverricht - Lundborg disease Unverricht's disease Unverricht-Lundborg disease	AMT ARSA ASAH1 ATP6V1A CERS1 CLN5 CNTN2 COG8 CYP27A1 CYP2C19 DHDDS EPM2A GBA1 GCSH GLDC GLYCTK HEXB HIBCH HMGCL INPP4A ISYNA1 MECR NAGA NEU1 NGLY1 PFKL PGAP2 PGAP3 PIGA PIGL PIGO PIGP PIGQ PIGV PIGW PIGY PIK3C2A PLA2G6 PLCB1 POMGNT1 PPT1 PRNP PSAP RFT1 SC5D SDHA SDHD ST3GAL3 ST3GAL5 SYNJ1 TMED9	10715 1203 132158 1557 1593 23236 26275 2629 2653 2731 27315 275 284098 3074 3155 3631 410 427 4668 4758 51102 51227 51477 5211 523 5277 5286 54732 5538 55624 55650 55768 5621 5660 6309 6389 6392 6487 6900 7957 79947 8398 84342 84720 84992 8867 8869 9091 91869 93210 9487	Homo sapiens (human)
DOID:0060781	congenital secretory sodium diarrhea 3 Aliases: congenital secretory sodium diarrhea 3 syndromic congenital secretory sodium diarrhea 3 with or without other congenital anomalies congenital secretory sodium diarrhoea 3 congenital secretory sodium diarrhoea 3 syndromic congenital secretory sodium diarrhoea 3 with or without other congenital anomalies	CALR DGAT1 PTGS2	5743 811 8694	Homo sapiens (human)
DOID:0110747	type 1 diabetes mellitus 8 Aliases: IDDM8 Insulin-Dependent Diabetes Mellitus 8	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:8446	intussusception Aliases: Intussusception of intestine Invagination of intestine or colon	PCYT1A PTEN SLC35G1	159371 5130 5728	Homo sapiens (human)
DOID:0110763	hereditary spastic paraplegia 10 Aliases: SPG10 autosomal dominant spastic paraplegia 10 autosomal dominant spastic paraplegia type 10	B4GALNT1 CPT1C CYP2B6 CYP2U1 CYP39A1 CYP7B1 FAR1 GBA2 L1CAM MAG PCYT2 PLA2G6 PNPLA6 SELENOI SLC33A1 ST3GAL5	10908 113612 126129 1555 2583 3897 4099 51302 57704 5833 8398 84188 85465 8869 9197 9420	Homo sapiens (human)

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