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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 **2551 - 2575** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:7305	astroblastoma	CD44 IDH1 PIK3CA PTEN	3417 5290 5728 960	Homo sapiens (human)
DOID:2355	anemia Aliases: anaemia	ABO ACE ACO1 ACSM3 ADH1B AGXT AKR1C4 ALDH2 ALG8 ALOX5 ALPL ARSA B3GLCT CACNA2D3 CALR CAT CD55 CEACAM5 CHI3L1 COG1 COG6 CRPPA CYP1B1 CYP2C8 ECHS1 ENO1 ENPP1 EXT2 FCGR3B FUT1 FUT2 FUT3 G6PC1 G6PC3 G6PD GBA1 GLA GNPTAB GPI GPX1 HK1 HMGCL HPRT1 HPSE ICAM1 IDH1 IDH2 IDUA KL LCAT LIPA LPIN2 MBL2 MMUT MPG NAAA NCAM1 OCRL PARP1 PCCA PCCB PDHA1 PFKM PGAM1 PGK1 PI4KA PIK3CA PKLR PNP PSAP PTEN PTGS2 SCD SDHA SDHB SDHC SFTPA1 SHMT2 SIGLEC1 SLC17A5 SLC39A8 SOAT1 TALDO1 TBXAS1 TMED3 TNF UGCG UGT1A1 UMPS VCAM1	1048 10855 1109 1116 125 142 145173 1545 1558 1604 1636 189 1892 2023 2132 217 2215 23423 240 249 2523 2524 2525 2538 2539 2629 26503 27163 2717 28 2821 2876 3098 3155 3251 3383 3417 3418 3425 3931 3988 410 4153 4350 4594 4684 48 4860 4952 5095 5096 5160 5167 5213 5223 5230 5290 5297 5313 54658 55799 5660 5728 5743 57511 6296 6319 6389 6390 6391 64116 6472 653509 6614 6646 6888 6916 7124 729920 7357 7372 7412 79053 79158 811 847 92579 9365 9382 9663	Homo sapiens (human)
DOID:146	papilledema	CD38 ENO2 IDS SHMT1	2026 3423 6470 952	Homo sapiens (human)
DOID:0050448	white sponge nevus Aliases: hereditary mucosal leukokeratosis white sponge nevus of Cannon	ALDH2 CYP1A1 CYP1B1 CYP2E1 HPGDS LGALS1 LYZ OGG1 PTGS2	1543 1545 1571 217 27306 3956 4069 4968 5743	Homo sapiens (human)
DOID:10322	berylliosis Aliases: beryllium poisoning	ACE	1636	Homo sapiens (human)
DOID:0110450	dilated cardiomyopathy 1II Aliases: CMD1II	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:0111529	familial multiple nevi flammei Aliases: CMC congenital capillary malformations familial multiple port-wine stains	CYP1B1 ICAM1 KLRB1 MAG PIK3CA PIK3CB PIK3CD PIK3CG	1545 3383 3820 4099 5290 5291 5293 5294	Homo sapiens (human)
DOID:331	central nervous system disease	ABO ACE ACHE ACO2 ALDH3A2 ALDH7A1 ARSA ARSB B4GALNT1 BST2 CACNA2D2 CD1D CD38 CD44 CDH13 CH25H CHAT CHI3L1 CHKB COL9A2 COLGALT1 COMT CPT1B CYB5R3 CYP1A2 CYP27A1 CYP2B6 CYP2C8 CYP2C9 CYP3A4 DEGS1 DLD EBP ECHS1 ELOVL4 ENO2 ENPP2 EPM2A FCN2 GAD1 GAD2 GALNT14 GBA1 GBA2 GCDH GLB1 GLUL GOLPH3 GPC5 GPI GPX1 GUSB HK1 HPGDS HPRT1 HS6ST3 ICAM1 IDH2 IDH3A IDS IDUA INPPL1 KL L1CAM LYZ MAG MANBA MANEAL MBL2 MDGA2 MGAT1 MGLL NAGA NCAM1 NCAN NDST3 NEU3 NYX OGA OGDH PAFAH1B1 PARP1 PGP PIGW PIK3CA PIK3CB PIK3CD PIK3CG PLA2G10 PLA2G2A PLA2G4A PLA2G6 PLB1 PNP PNPLA6 PPT1 PRNP PTEN PTGS2 RTN4R SARM1 SEMA7A SGSH SHMT1 SIGLEC7 SIRT2 SLC17A5 SLC2A4 SLC39A8 SMPD1 SMPD3 SMUG1 SPTLC1 ST8SIA4 SUCLA2 SUMF1 TMED9 TPI1	1012 10558 10682 10724 10825 10908 1103 1116 1120 11343 1298 1312 1375 142 1463 149175 151056 1544 1555 1558 1559 1576 1593 161357 1636 1727 1738 1892 2026 2220 224 2262 22933 23098 23583 2571 2572 2583 2629 2639 26503 266722 27036 2720 27306 2752 28 2821 283871 284098 285362 2876 2990 3098 3251 3383 3418 3419 3423 3425 3636 3897 4069 4099 410 411 4126 4153 4245 43 4668 4684 4860 4967 50 501 5048 5168 5290 5291 5293 5294 5320 5321 54732 5538 55512 5621 5728 5743 57704 60506 64083 64116 6448 6470 65078 6517 6609 6785 684 7167 7903 7957 79623 79709 8398 8399 8482 8560 8803 9023 912 9254 9348 9365 952 960	Homo sapiens (human)
DOID:3803	Crigler-Najjar syndrome Aliases: Bilirubin UDP glucuronyl transferase deficiency Crigler Najjar syndrome Crigler-Najjar syndrome, type I	SLC35A2 UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9	54575 54576 54577 54578 54579 54600 54657 54658 54659 56886 7355	Homo sapiens (human)
DOID:0080067	Charcot-Marie-Tooth disease type 5 Aliases: hereditary motor and sensory neuropathy with pyramidal features	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:4610	intestinal benign neoplasm Aliases: intestinal tumors intestine growth neoplasm of intestinal tract	B4GALNT1 CEACAM5 DCN EFNA1 GPX1 GPX2 HPGDS PIK3CA PIK3CB PIK3CD PIK3CG PLA2G2A PRSS8 PTGDS PTGS2 SHMT1 SMC3 TIGAR	1048 1634 1942 2583 27306 2876 2877 5290 5291 5293 5294 5320 5652 57103 5730 5743 6470 9126	Homo sapiens (human)
DOID:1627	intraductal papilloma Aliases: ductal papilloma	CD44 PIK3CA	5290 960	Homo sapiens (human)
DOID:12995	conduct disorder	ALDH2 ARSD BST2 COMT DGKK EFNA5 EXT1 G6PD GLDC	1312 139189 1946 2131 217 2539 2731 414 684	Homo sapiens (human)
DOID:4960	bone marrow cancer Aliases: bone Marrow tumor bone marrow neoplasm malignant bone Marrow tumor malignant neoplasm of bone marrow	ACE ALOX12 ALOX5 CALR CAT CD177 CD33 CD44 CEL CHI3L1 CHIT1 CYP3A4 FUT1 FUT4 G6PC1 G6PD GPX1 GUSB HPRT1 HPSE IDH1 IDH2 IDS IL18R1 INPP5D LGALS1 LGALS3 MUTYH NAAA OGG1 PAFAH1B1 PARP1 PCYT1A PFKFB3 PIGA PIK3CA PIK3CB PIK3CD PIK3CG POFUT1 SIGLEC7 SOAT1 VCAM1	1056 10855 1116 1118 142 1576 1636 23509 239 240 2523 2526 2538 2539 27036 27163 2876 2990 3251 3417 3418 3423 3635 3956 3958 4595 4968 5048 5130 5209 5277 5290 5291 5293 5294 57126 6646 7412 811 847 8809 945 960	Homo sapiens (human)
DOID:0070221	progressive familial intrahepatic cholestasis Aliases: PFIC; Byler disease	CHST3 GGT1 HSD3B7 SEMA7A	2678 80270 8482 9469	Homo sapiens (human)
DOID:12987	agranulocytosis Aliases: Granulocytopenic disorder Granulopenia granulocytopenia	ABO ACE AGA ALDH2 B3GAT1 CD177 CD33 CEL CHPT1 COG4 CYP1B1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP39A1 CYP3A5 DHDDS FCGR3B FH G6PC1 G6PC3 HMMR IDUA LPIN2 MBL2 MMUT NAMPT NCAM1 PARP1 PARP9 PCCA PCCB PGM3 PIK3CA PIK3CB PIK3CD PIK3CG SELP SLC17A5 SLC27A5 SLC35A1 SLC35A2 SLC37A4 TMTC3 TNFRSF10C UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9 UMPS	10135 10559 1056 10998 142 1545 1555 1557 1558 1559 1577 160418 1636 175 217 2215 2271 2538 2542 25839 26503 27087 28 3161 3425 4153 4594 4684 5095 5096 51302 5238 5290 5291 5293 5294 54575 54576 54577 54578 54579 54600 54657 54658 54659 56886 56994 57126 6403 7355 7372 79947 83666 8794 92579 945 9663	Homo sapiens (human)
DOID:264	hemangiopericytoma Aliases: Haemangiopericytic meningioma hemangiopericytoma, malignant malignant hemangiopericytoma	PTEN	5728	Homo sapiens (human)
DOID:1485	cystic fibrosis Aliases: CF mucoviscidosis	ABO ACE ACHE ACO2 ADRB3 AKR1B10 ANXA5 APRT ARSB ASAH1 ASAH2 CALR CAT CD14 CD1D CEACAM5 CEACAM6 CEL CHI3L1 CHIT1 CLEC6A CLEC7A CYP1A1 CYP1A2 CYP2C19 CYP3A4 DCN EBP EDEM1 EFNA5 ENPP7 FCGR3B FCN1 FUT1 FUT2 FUT3 FUT4 GBA2 GBA3 GCLC GLB1 GPNMB GUSB HEXA HPGDS HSD11B2 HSPG2 ICAM1 INPP5D ISYNA1 LCT LEP LPCAT1 MASP1 MASP2 MBL2 MGAM MOGS MPI PARP3 PARP9 PCK1 PGD PGM3 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKM PLA2G2A PLA2G4A PLB1 PLCB3 PLCD1 PLCZ1 PPARA PRKAA2 PRNP PRSS8 PTEN PTGES3 PTGS2 RECK RGMA SELP SFTPA1 SFTPA2 SFTPC SFTPD SI SIRT2 SLC27A5 SMPD1 SPHK2 STS SULT1E1 SUMF1 TLR4 TNF UGT1A1 VCAM1	10039 10457 1048 1056 10682 10728 10747 10998 1116 1118 151056 1543 1544 155 1557 1576 1634 1636 1946 2215 2219 22933 2523 2524 2525 2526 2720 2729 27306 28 285362 2990 3073 308 3291 3339 3383 339221 353 3635 3938 3952 411 412 4153 427 43 4351 4680 50 5105 51477 5226 5238 5290 5291 5293 5294 5310 5315 5320 5321 5331 5333 5465 54658 5563 5621 5648 5652 56624 56848 56963 57016 5728 5743 57704 57733 6403 6440 6441 64581 6476 653509 6609 6783 7099 7124 729238 7412 7841 79888 811 83666 8434 847 8972 89869 912 929 93978 9695	Homo sapiens (human)
DOID:0110790	hereditary spastic paraplegia 39 Aliases: NTE-related motor neuron disorder NTEMND SPG39 autosomal recessive spastic paraplegia 39 autosomal recessive spastic paraplegia type 39 spastic paraplegia due to NTE mutation spastic paraplegia due to neuropathy target esterase mutation	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:0110455	dilated cardiomyopathy 1U Aliases: CMD1U	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:12120	pulmonary alveolar proteinosis	CEACAM5 CEL CHI3L1 CYP27A1 ENO2 PARP9 SFTPA1 SFTPC SFTPD SLC27A5 SOAT1	1048 1056 10998 1116 1593 2026 6440 6441 653509 6646 83666	Homo sapiens (human)
DOID:3908	lung non-small cell carcinoma Aliases: NSCLC Non-small cell lung cancer non-small cell lung carcinoma	ACACA ACE ACHE ACLY ACOT8 ACSS1 ACSS2 ADH1A ADH1B ADH1C ADH7 AGL AKR1A1 AKR1B10 AKR1C1 AKR1C2 AKR1C3 AKT1 ALDH1A3 ALDH1B1 ALDH3A1 ALDH3A2 ALDH7A1 ALG13 ALG1 ALOX15B ALOX5 AMACR ANXA4 ANXA5 APRT ARSF ATRNL1 B3GALNT1 B3GAT1 B3GNT3 BAAT BAD CA4 CACNA2D2 CALR CAT CBR1 CD14 CD177 CD1D CD33 CD38 CD44 CD55 CD74 CD93 CDH13 CEACAM5 CEACAM7 CEMIP CERS6 CHGA CHI3L1 CHKA CHODL CHPT1 CNTN1 CNTN2 COMT CRLS1 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP24A1 CYP27A1 CYP27B1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP2E1 CYP2R1 CYP3A4 CYP3A5 CYP4F3 DCN DHCR24 DHDDS DHDH EFNA1 ENO1 ENO2 EXTL3 FASN FBP1 FBXO17 FCGR3B FH FOLR2 FUT4 FUT8 G6PD GALC GALNS GALNT14 GAPDH GCNT3 GFPT2 GLDC GLUL GML GOLPH3 GPC3 GPC5 GPX1 GPX3 HAGH HAS2 HAS3 HK1 HK2 HMMR HPGDS HPRT1 HPSE HS3ST2 HS3ST3B1 HSD11B2 HSD17B1 HSD17B6 HYAL1 ICAM1 IDH1 IDH2 IGF2R IL18R1 INPP4A INPP5D INPPL1 KAT2A KHK KL KLB KLRB1 KLRD1 KLRK1 L1CAM LDHA LDHB LDHC LEP LGALS1 LGALS3 LGALS9 LIPC LPCAT1 LPIN3 LPL LY6K LYPD3 LYPD5 LYPLA1 MBD4 MBL2 MCAT MDH1 MDH2 ME1 ME2 MICA MMUT MPG MRC1 MSLN MTAP MUTYH NAMPT NCAM1 NEIL1 NEU1 NEU3 NT5E NTHL1 OGG1 OPCML PAFAH1B1 PAPSS1 PARP1 PC PCK2 PDIA3 PFKFB3 PGAM1 PGK1 PIK3C2B PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKM PLA2G10 PLA2G2A PLA2G4A PLA2G6 PLAUR PLB1 PLCB3 PLCB4 PLCE1 PLCG1 PLCH1 POGLUT1 PPT1 PRG2 PRKAA1 PRKAA2 PRSS8 PSMD10 PTEN PTGES3 PTGES PTGIS PTGS1 PTGS2 PYGB RECK RGMB RGN RPN2 RTN4R SCD SDC4 SDHA SDHC SELE SFTPA1 SFTPA2 SFTPC SFTPD SGMS1 SHMT2 SIGLEC9 SIRT2 SIRT4 SIRT6 SLC17A5 SLC26A2 SLC2A3 SLC2A5 SLC3A2 SLC5A1 SMPD1 SMUG1 SOAT1 SPHK1 SPHK2 SRGN ST6GAL1 ST8SIA2 STS SULF2 TIGAR TM7SF2 TMTC3 TNF TNFRSF10C TNKS2 TNKS TP53 TREH TUSC3 TYMP UGCG UGP2 UGT1A1 UGT1A7 UGT1A9 ULBP1 UMPS UNG VCAM1 VTCN1 XXYLT1	10005 100507436 1012 10135 10232 10327 10331 10434 1048 10728 10825 10855 1087 1113 1116 11181 1119 115290 120227 124 125 126 1272 131 1312 140578 142 151056 152002 152831 1543 1544 1545 1555 1557 1558 1559 1571 1576 1577 1586 1588 1591 1593 1594 1604 160418 1634 1636 1645 1646 1718 178 1836 1890 1942 2023 2026 207 2137 218 219 2194 220 2203 2215 224 2262 2271 22914 22918 22933 23007 23409 2350 23583 23600 240 247 2526 2530 253782 2539 2581 2588 259230 2597 26033 2648 26503 27076 27087 27180 2719 27294 27306 2731 27349 2752 2765 284348 285704 2876 2878 2923 3029 3037 3038 307 308 3098 3099 31 3161 3251 3291 3292 3373 3383 3417 3418 3482 353 3631 3635 3636 3795 3820 3824 3897 3939 3945 3948 3952 3956 3958 3965 3990 4023 4051 412 4153 416 4190 4191 4199 4200 43 4350 4360 4507 4594 4595 4684 47 4758 4907 4913 4968 4978 501 5048 5091 5106 51196 51548 5209 5223 5230 5287 5289 5290 5291 5293 5294 5310 5315 5320 5321 5329 5331 5332 5335 54577 54600 54658 54675 54742 5538 5552 5553 5562 5563 55902 55959 56052 5652 56848 56983 56994 570 57016 57103 57126 5716 572 57214 5728 5740 5742 5743 5834 6185 6319 6385 6389 6391 6401 64083 6440 6441 6472 6480 64900 65078 6515 6518 6520 6523 653509 6609 6646 6900 7108 7124 7157 729238 7357 7360 7372 7374 7412 762 79623 79661 79679 79868 79888 7991 79947 80329 80351 811 8128 8398 8399 8434 84532 847 8630 8644 8658 8706 873 8794 8809 8877 8930 9061 9104 912 9245 9254 929 9365 945 952 9536 960 972 9945 9953 9956	Homo sapiens (human)
DOID:0050699	Dent disease Aliases: Dent disease 1 Dent disease 2 Dent's disease	CLC EXT2 INPP5B NAGLU OCRL	1178 2132 3633 4669 4952	Homo sapiens (human)
DOID:12387	nephrogenic diabetes insipidus	ATP6AP2 CANX G6PD L1CAM PRKAA2 PTGS2	10159 2539 3897 5563 5743 821	Homo sapiens (human)
DOID:9042	polyp of corpus uteri Aliases: endometrial/uterine polyp polyp of Endometrium polyp of the Uterus polyp, uterus	CYP19A1 PTEN PTGS2 SDC1	1588 5728 5743 6382	Homo sapiens (human)

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