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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 **7326 - 7350** of **7942** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism
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)
DOID:0080522	thyroid gland anaplastic carcinoma Aliases: anaplastic thyroid carcinoma	ACACA BCKDHB CAT CD1D CD44 CDH13 CLC CYP19A1 CYP24A1 CYP27B1 FDPS FUCA1 GAA GLO1 GPI HK2 ICAM1 IDH1 IDH2 IL18R1 KLB KLRK1 L1CAM LDHA LGALS3 MMUT PGD PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKM PTEN PTGS2 SCD TKT ULBP2	1012 1178 152831 1588 1591 1594 2224 22914 2517 2548 2739 2821 3099 31 3383 3417 3418 3897 3939 3958 4594 5226 5290 5291 5293 5294 5310 5315 5728 5743 594 6319 7086 80328 847 8809 912 960	Homo sapiens (human)
DOID:3087	gingivitis Aliases: acute gingivitis chronic gingivitis	ACACA B4GALT7 FCN2 FMOD LYZ OCRL OGA PTGS2 SELE SMC3	10724 11285 2220 2331 31 4069 4952 5743 6401 9126	Homo sapiens (human)
DOID:0090119	ankyloblepharon-ectodermal defects-cleft lip/palate syndrome Aliases: AEC syndrome Hay-Wells syndrome ankyloblepharon-ectodermal defects-cleft lip and palate syndrome	ACACA ANXA5 CD38 DHCR7 G6PD GOLPH3 PGK1 PTEN PTGS2 SFTPC	1717 2539 308 31 5230 5728 5743 64083 6440 952	Homo sapiens (human)
DOID:8689	anorexia nervosa	ACACA AMY1A AMY1B AMY1C CD38 CNTN4 CNTN5 CNTN6 COMT CSGALNACT1 CYP17A1 CYP19A1 CYP2B6 EPHX2 ERLEC1 HSD11B2 HTR2A LYZ NTNG1 PARP9 PTGS2 SCD SGSH	1312 152330 1555 1586 1588 2053 22854 27248 27255 276 277 278 31 3291 3356 4069 53942 55790 5743 6319 6448 83666 952	Homo sapiens (human)
DOID:7474	malignant pleural mesothelioma Aliases: malignant mesothelioma of pleura	ACACA ALDH1A3 ALG1 ALPI ALPP APRT ARSA BST1 CD38 CD44 CD74 CEACAM5 CYP1A1 EFNA1 FOLR1 FOLR2 HPSE ICAM1 L1CAM MCAT MSLN MTAP NAGLU PARP1 PFKFB3 PIK3CA PIK3CB PIK3CD PIK3CG PRKAA2 PTGS2 RTN4R SMUG1 SPHK1 SPHK2 SRGN TBXAS1 TM7SF2 TPI1	10232 1048 10855 142 1543 1942 220 2348 2350 23583 248 250 27349 31 3383 353 3897 410 4507 4669 5209 5290 5291 5293 5294 5552 5563 56052 56848 5743 65078 683 6916 7108 7167 8877 952 960 972	Homo sapiens (human)
DOID:1790	malignant mesothelioma Aliases: Diffuse malignant Mesothelioma advanced malignant mesothelioma asbestos-related malignant mesothelioma malignant tumor of Mesothelium	ACACA AKR1C1 AKR1C2 AKR1C3 ALOX12 ALOX15 ALOX5 ANXA4 APRT BST1 CALR CAT CD14 CD44 CD74 CEACAM5 CEACAM7 CSPG4 CYP19A1 CYP1A1 DLD FCN2 FOLR1 FOLR2 FUT4 GLB1 GPC1 GPC3 GPI HPGDS HPSE ICAM1 ICAM2 IDUA ITLN1 KLRK1 L1CAM LGALS3 LGALS9 MRC1 MSLN MTAP MTMR4 NT5E PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G4A PLB1 PTEN PTGS2 SDC1 SDC2 SIGLEC7 SLC26A2 SMUG1 SPHK1 TBXAS1 TM7SF2 TNFRSF10C TYMP VCAM1 VCAN	10232 1048 10855 1087 142 1462 1464 151056 1543 1588 1645 1646 1738 1836 1890 2220 22914 2348 2350 23583 239 240 246 2526 27036 2719 2720 27306 2817 2821 307 31 3383 3384 3425 353 3897 3958 3965 4360 4507 4907 5290 5291 5293 5294 5321 55600 5728 5743 6382 6383 683 6916 7108 7412 811 847 8644 8794 8877 9110 929 960 972	Homo sapiens (human)

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