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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 **4001 - 4025** of **4621** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism
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:655	inherited metabolic disorder Aliases: Inborn Errors of Metabolism Metabolic hereditary disorder inborn metabolism disorder	ACADM ACAT1 ACSF3 AGXT ALG11 ALPL CHKB CYP27A1 ECHS1 FUT1 G6PD GALK1 GALT GCDH GLA GLB1 GPD1 HADHA HAO1 HAO2 HEXA HEXB HIBCH HPRT1 HSD11B2 IDUA LCAT LDHB MLYCD MMUT MRC1 PDHA1 PLA2G4A PLA2G7 PMM2 SGPL1 SLC37A4 STS SUMF1 TKT TNKS TPI1 TYMP	1120 1593 189 1890 1892 197322 23417 249 2523 2539 2542 2584 2592 26275 2639 2717 2720 2819 285362 3030 3073 3074 3251 3291 34 3425 38 3931 3945 412 4360 440138 4594 51179 5160 5321 5373 54363 7086 7167 7941 8658 8879	Homo sapiens (human)
DOID:7327	pseudosarcomatous fibromatosis Aliases: Fasciitis - nodular Pseudosarcomatous Fasciitis nodular fasciitis	ACADM ACADVL CPT2 CYP2C8 DCN DPAGT1 FKRP HADHA HADHB HSPG2 LDHA PFKM PGAM2 PGK1 PLA2G2A PLA2G6 PTGS2 PYGM SOAT1	1376 1558 1634 1798 3030 3032 3339 34 37 3939 5213 5224 5230 5320 5743 5837 6646 79147 8398	Homo sapiens (human)
DOID:0111338	isolated elevated serum creatine phosphokinase levels Aliases: elevated serum CPK idiopathic hyperCKemia isolated hyperCKemia	ACADM ACADVL AGL ALG14 ALG2 B3GALNT2 B4GALT1 B4GAT1 CHKB COG7 COG8 CPT1A CPT2 CRPPA DAG1 DOLK DPAGT1 DPM1 DPM2 DPM3 ENO3 FKRP FKTN GAA GFPT1 GMPPB GNE HSPG2 INPP5K LARGE1 LDHA LPIN1 OCRL PGAM2 PIGY PKD1 PLA2G6 PNPLA2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PYGM SDHA SUCLA2 SYNJ1 TMEM165	10020 10585 11041 1120 1374 1376 148789 1605 178 1798 199857 2027 2218 22845 23175 2548 2673 2683 29925 29954 3339 34 37 3939 4952 51763 5224 5310 54344 55624 55858 56983 57104 5837 6389 729920 79147 8398 84197 84342 84892 84992 85365 8803 8813 8818 8867 91949 9215	Homo sapiens (human)
DOID:3650	lactic acidosis	ACADM ACADVL ACAT1 AGK AGXT ALDH6A1 ALDH7A1 ALDOB AMT BCKDHA BCKDHB CHAT CYP11A1 CYP11B2 CYP27B1 DBT DLAT DLD ECHS1 FBP1 FH G6PC1 GALT GCDH GLYCTK HADH HADHA HADHB HIBCH HMGCL HSD3B2 ICAM1 LCT MCEE MLYCD OGDH PC PCCA PCCB PCK1 PDHA1 PDHB PDHX PTGS1 PYGL SDHA SLC2A2 SLC37A4 SLC3A1 SLC5A1 SUCLA2 SUCLG1	1103 132158 1583 1585 1594 1629 1737 1738 189 1892 2203 2271 229 23417 2538 2542 2592 26275 2639 275 3030 3032 3033 3155 3284 3383 34 37 38 3938 4329 4967 501 5091 5095 5096 5105 5160 5162 55750 5742 5836 593 594 6389 6514 6519 6523 8050 84693 8802 8803	Homo sapiens (human)
DOID:0080153	medium chain acyl-CoA dehydrogenase deficiency	ACADM ACADS ARSA CPT1A CPT2 SLC17A5	1374 1376 26503 34 35 410	Homo sapiens (human)
DOID:0112072	nuclear type mitochondrial complex I deficiency 20 Aliases: ACAD9 deficiency Acyl-CoA dehydrogenase 9 deficiency MC1DN20 mitochondrial complex 1 deficiency due to ACAD9 deficiency	ACADL	33	Homo sapiens (human)
DOID:631	fibromyalgia	ACADL ACE ACHE APRT CALR CAT CD22 CNTN3 COMT CPT2 CRPPA DSE ENO1 ENO3 ENPP2 EXT1 FKRP FKTN FMOD FOLR2 GLA GOLPH3 GPX1 HADHA HADHB HPGDS HSD11B1 HSPG2 KLRC1 KLRD1 L1CAM LALBA LDHA LGALS8 LPIN1 LPIN2 NT5E PCYT1A PIGT PIK3C2A PNPLA2 POMT1 PRKAA2 PTGS2 SELL SLC17A5 VCAM1	10585 1312 1376 1636 2023 2027 2131 2218 23175 2331 2350 26503 2717 27306 2876 29940 3030 3032 3290 33 3339 353 3821 3824 3897 3906 3939 3964 43 4907 5067 5130 51604 5168 5286 5563 57104 5743 6402 64083 729920 7412 79147 811 847 933 9663	Homo sapiens (human)
DOID:633	myositis Aliases: Inflammatory disorder of muscle	ACADL ACE ACHE ALOX5 APRT ARSF CD177 CD55 CD74 CHI3L1 COMT CPT2 CRPPA DAG1 DGKQ DSE ENO3 EXT1 FKRP FKTN GALNS GLA GNE HADHA HADHB HPGDS HPRT1 HSD11B1 HSPG2 IL1RAPL2 KL LALBA LDHA LPIN1 LPIN2 MBL2 MRC1 PIGT PIK3C2A PKM PNPLA2 POMT1 PTGS1 PTGS2 SLC17A5 SMUG1 TNF	10020 10585 1116 1312 1376 1604 1605 1609 1636 2027 2131 2218 23175 23583 240 2588 26280 26503 2717 27306 29940 3030 3032 3251 3290 33 3339 353 3906 3939 4153 416 43 4360 51604 5286 5315 57104 57126 5742 5743 7124 729920 79147 9365 9663 972	Homo sapiens (human)
DOID:0080155	very long chain acyl-CoA dehydrogenase deficiency Aliases: VLCAD deficiency	ACADL ACADVL CHPT1 CPT1A CPT1B CPT2 LPIN1	1374 1375 1376 23175 33 37 56994	Homo sapiens (human)
DOID:0060067	Pearson syndrome Aliases: Pearson Marrow-Pancreas Syndrome	ACADL ACADVL CHPT1 CPT1A CPT1B CPT2 LPIN1	1374 1375 1376 23175 33 37 56994	Homo sapiens (human)
DOID:9267	urea cycle disorder Aliases: disorder of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia disorder of urea cycle metabolism urea cycle defect	ACADL ACADM ACADVL ACAT1 AMT CAT CPT1A CPT2 CYP2C9 DLD GCK GCSH GLUL HADH HADHA HADHB HMGCL MMUT OGDH PC PCCA PCCB	1374 1376 1559 1738 2645 2653 275 2752 3030 3032 3033 3155 33 34 37 38 4594 4967 5091 5095 5096 847	Homo sapiens (human)
DOID:9993	hypoglycemia Aliases: Hypoglycaemia	ACADL ACADM ACADSB ACADVL ACAT1 ACE ACSF3 AGL AKT2 ALDOB APRT BCKDHA BCKDHB CHAT CHGA CHPT1 COG7 COG8 CPT1A CPT1C CPT2 CRYL1 CYP21A2 CYP2C8 CYP2C9 DBT DHDDS DLD ENO1 ENO2 FBP1 G6PC1 GALT GCDH GCK GK GLA GPC3 GYS1 GYS2 H6PD HADH HADHA HK1 HMGCL HMGCS2 IDS KHK KL LGALS1 LPL MGAM MLYCD MPI PC PCCA PCCB PCK1 PCK2 PFKFB3 PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PPP1R3A PRKAA2 PTEN PYGL SELP SGPL1 SI SIRT6 SLC2A2 SLC2A3 SLC2A4 SLC35A2 SLC37A4 SLC3A1 SLC5A1 ST3GAL4 SUCLG1 TIGAR UGDH VCAM1	1103 1113 126129 1374 1376 1558 1559 1589 1629 1636 1738 178 197322 2023 2026 208 2203 229 23417 2538 2542 2592 2639 2645 2710 2717 2719 2997 2998 3030 3033 3098 3155 3158 33 34 3423 353 36 37 3795 38 3956 4023 4351 5091 5095 5096 5105 5106 51084 51548 5209 5236 5290 5291 5293 5294 5506 5563 56994 57103 5728 5836 593 594 6403 6476 6484 6514 6515 6517 6519 6523 7355 7358 7412 79947 84342 8802 8879 8972 91949 9365 9563	Homo sapiens (human)
DOID:8850	salivary gland cancer Aliases: malignant neoplasm of salivary gland	ACACB ISYNA1 LGALS3 MSLN PYGB ST3GAL4 VCAN	10232 1462 32 3958 51477 5834 6484	Homo sapiens (human)
DOID:8533	hypopharynx cancer Aliases: Hypopharyngeal cancer malignant Hypopharyngeal tumor malignant neoplasm of hypopharynx malignant tumor of hypopharynx malignant tumour of hypopharynx	ACACB ADH1B AKR1A1 ALDH2 CALR CD44 CYP1A1 GAPDH SMUG1	10327 125 1543 217 23583 2597 32 811 960	Homo sapiens (human)
DOID:11981	morbid obesity Aliases: Severe obesity	ACACB ACE ACHE ACSS2 ATP6AP2 BAAT CNTN3 CPT1B CYP2E1 ENPP1 FDFT1 GAD2 GGT1 GHRL GPX1 LPIN1 LPL MRC1 NAMPT NCAN PFKFB3 PNPLA3 SCD SLC2A4 TKTL1	10135 10159 1375 1463 1571 1636 2222 23175 2572 2678 2876 32 4023 43 4360 5067 5167 51738 5209 55902 570 6319 6517 80339 8277	Homo sapiens (human)
DOID:2433	epidermal appendage tumor Aliases: neoplasm of skin with adnexal differentiation neoplasm of the skin Appendage skin appendage tumour	ACACA	31	Homo sapiens (human)
DOID:1252	trichuriasis Aliases: Infection by Trichuris trichura Trichuriasis infection Whipworm disease trichuris trichiura infection	ACACA	31	Homo sapiens (human)
DOID:4877	breast adenoid cystic carcinoma Aliases: Mammary Adenocystic carcinoma	ACACA PIK3CA PTEN	31 5290 5728	Homo sapiens (human)
DOID:2129	atypical teratoid rhabdoid tumor Aliases: Atypical teratoid/rhabdoid tumor Atypical teratoid/rhabdoid tumour Rhabdoid tumor of the CNS Rhabdoid tumour of the CNS atypical teratoid rhabdoid tumour	ACACA CNTN2 GPC3 PIK3CA PIK3CB PIK3CD PIK3CG PTGS2 SMUG1	23583 2719 31 5290 5291 5293 5294 5743 6900	Homo sapiens (human)
DOID:0060548	luminal breast carcinoma A Aliases: Luminal A Breast Carcinoma	ACACA CDH13 CYP19A1 CYP7B1 FASN GLCE H6PD HMMR IDH2 IL18R1 PARP1 PDHB PGLS PIK3CA PLCG1 PTEN SMUG1	1012 142 1588 2194 23583 25796 26035 31 3161 3418 5162 5290 5335 5728 8809 9420 9563	Homo sapiens (human)
DOID:0050773	paraganglioma Aliases: chemodectoma glomus body tumor	ACACA CD44 CHGA CMAS CNTN4 DLST ENO2 FH GUSB IDH1 IDH2 MDH2 PARP1 PTEN PTGS2 SDHA SDHB SDHC SDHD SLC25A11 SMUG1 SORD TYMP VCAM1	1113 142 152330 1743 1890 2026 2271 23583 2990 31 3417 3418 4191 55907 5728 5743 6389 6390 6391 6392 6652 7412 8402 960	Homo sapiens (human)
DOID:14793	hypohidrotic ectodermal dysplasia	ACACA CD38 DHCR7 G6PD GOLPH3 LYZ PGK1 PTGS2 SLC17A5	1717 2539 26503 31 4069 5230 5743 64083 952	Homo sapiens (human)
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)
DOID:3156	hypomelanosis of Ito Aliases: Bloch-Siemans syndrome Incontinentia pigmenti achromians syndrome Ito's nevus incontinentia pigmenti achromians nevus of Ito	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)

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