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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 **576 - 600** of **7942** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism
DOID:0110640	congenital muscular dystrophy due to LMNA mutation Aliases: L-CMD LMNA-related congenital muscular dystrophy congenital muscular dystrophy LMNA-related	ACACA ACHE ALDH2 B4GAT1 CD38 CHKB CNTN1 FKRP FKTN GBE1 HACD1 HK1 LARGE1 MTM1 MTMR14 POMGNT1 POMT1 PRKAA2	10585 11041 1120 1272 217 2218 2632 3098 31 43 4534 55624 5563 64419 79147 9200 9215 952	Homo sapiens (human)
DOID:0110637	muscular dystrophy-dystroglycanopathy type B6 Aliases: MDC1D MDDGB6 congenital muscular dystrophy LARGE-related congenital muscular dystrophy type 1D muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6 muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6	ACACA ACHE ALDH2 B4GAT1 CD38 CHKB CNTN1 FKRP FKTN GBE1 HACD1 HK1 LARGE1 MTM1 MTMR14 POMGNT1 POMT1 PRKAA2	10585 11041 1120 1272 217 2218 2632 3098 31 43 4534 55624 5563 64419 79147 9200 9215 952	Homo sapiens (human)
DOID:0110634	congenital muscular dystrophy 1B Aliases: CMD1B MDC1B congenital muscular dystrophy type 1B	ACACA ACHE ALDH2 B4GAT1 CD38 CHKB CNTN1 FKRP FKTN GBE1 HACD1 HK1 LARGE1 MTM1 MTMR14 POMGNT1 POMT1 PRKAA2	10585 11041 1120 1272 217 2218 2632 3098 31 43 4534 55624 5563 64419 79147 9200 9215 952	Homo sapiens (human)
DOID:0110633	rigid spine muscular dystrophy 1 Aliases: Eichsfeld type congenital muscular dystrophy MDRS1 RSMD1 RSS SEPN1-related myopathy classic MmD classic multiminicore disease classic multiminicore myopathy congenital merosin-positive muscular dystrophy with early spine rigidity desmin-related myopathy with Mallory bodies desmin-related myopathy with Mallory body-like inclusions early-onset desmin-related myopathy rigid spine syndrome severe classic form minicore myopathy severe classic form multicore myopathy severe classic form multiminicore disease	ACACA ACHE ALDH2 B4GAT1 CD38 CHKB CNTN1 FKRP FKTN GBE1 HACD1 HK1 LARGE1 MTM1 MTMR14 POMGNT1 POMT1 PRKAA2	10585 11041 1120 1272 217 2218 2632 3098 31 43 4534 55624 5563 64419 79147 9200 9215 952	Homo sapiens (human)
DOID:3191	nemaline myopathy Aliases: Nemaline body disease nemaline rod myopathy rod body disease rod myopathy	ACACA ACHE ALDH2 B4GAT1 CD38 CHKB CNTN1 FKRP FKTN GBE1 HACD1 HK1 LARGE1 MTM1 MTMR14 POMGNT1 POMT1 PRKAA2	10585 11041 1120 1272 217 2218 2632 3098 31 43 4534 55624 5563 64419 79147 9200 9215 952	Homo sapiens (human)
DOID:0060193	amyotrophic lateral sclerosis type 1 Aliases: ALS1 amyotrophic lateral sclerosis 1	ACACA ACHE ALG1 ALPI ALPP APRT ASAH1 CAT CHI3L1 CLEC10A CNTN4 CYP27A1 FCN2 FIG4 GFRA1 GPX1 HEXB HK2 INPP4B MASP1 NT5E OGA OPCML OTOG PNPLA6 RTN4R SARM1 SLC17A5 SLC33A1 TIGAR TMED9	10462 10724 10908 1116 152330 1593 2220 23098 248 250 26503 2674 2876 3074 3099 31 340990 353 427 43 4907 4978 54732 56052 5648 57103 65078 847 8821 9197 9896	Homo sapiens (human)
DOID:1024	leprosy	ACACA ACOT7 AKR1B10 CD14 CD209 CEACAM5 CLEC9A CYP19A1 CYP2E1 FCN1 FCN2 FCN3 GAL3ST4 HSD11B2 IL18R1 IL1RL1 LGALS3 LTA4H MASP2 MBL2 MICA MRC1 NCAM1 NTM PCK1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 SDC4 SDHD SFTPD SIGLEC5 SMPD2 SMPD3 SOAT1 STS TLR1 TLR2 TNF	100507436 1048 10747 11332 1571 1588 2219 2220 283420 30835 31 3291 3958 4048 412 4153 4360 4684 50863 5105 5290 5291 5293 5294 55512 57016 5728 5743 6385 6392 6441 6610 6646 7096 7097 7124 79690 8547 8778 8809 9173 929	Homo sapiens (human)
DOID:0080482	peroxisome biogenesis disorder 7A Aliases: peroxisome biogenesis disorder 7A (Zellweger)	ACACA ACOT7 CAT GAA	11332 2548 31 847	Homo sapiens (human)
DOID:700	mitochondrial metabolism disease	ACACA ACOX1 AGK ALDH2 APRT ARSA CERS6 CPT2 CS DHDDS ECHS1 FOLR2 GAA GBE1 GGT1 GPX1 HADHB HMGCL HSD17B6 MMUT OGG1 PDHA1 PLCE1 SDHA SDHB SDHC SLC25A1 SLC39A8 SOAT1 SORD SULT1E1 TYMP	1376 1431 1890 1892 217 2350 253782 2548 2632 2678 2876 3032 31 3155 353 410 4594 4968 51 51196 5160 55750 6389 6390 6391 64116 6576 6646 6652 6783 79947 8630	Homo sapiens (human)
DOID:699	mitochondrial myopathy Aliases: mitochondrial cytopathy	ACACA ACOX1 AGK ALDH2 APRT ARSA CERS6 CPT2 CS DHDDS FOLR2 GAA GBE1 GGT1 GPX1 HMGCL HSD17B6 OGG1 PDHA1 SDHA SDHB SDHC SLC39A8 SOAT1 SORD TYMP	1376 1431 1890 217 2350 253782 2548 2632 2678 2876 31 3155 353 410 4968 51 5160 55750 6389 6390 6391 64116 6646 6652 79947 8630	Homo sapiens (human)
DOID:1094	attention deficit hyperactivity disorder Aliases: ADHD attention deficit disorder hyperkinetic disorder	ACACA ACSL4 AGA ALDH2 ALG13 APRT ARSD ATP6V1A B4GALT2 CD38 CDH13 CHPT1 CNTFR CNTN1 CNTN5 CNTN6 COMT CPT2 CYP2B6 CYP3A4 CYP4F3 DGKH DHDDS FADS1 FADS2 GAD1 GNE GNPAT GPC6 HK1 HPRT1 HSPG2 IL1RAPL1 LGALS3 LMAN2L MAN2A2 MANBA MBOAT7 NANS NCAM1 NCAN NTM OCRL PC PI4K2B PIK3CA PIK3CB PIK3CD PIK3CG PRNP PTEN PTGDS SCD SDHA SDHD SLC2A3 SLC39A8 SMC3 SMPD1 SMUG1 ST3GAL3 STS STT3A SYNJ1 THEM4 UST	10020 10082 10090 1012 11141 117145 1271 1272 1312 1376 1463 1555 1576 160851 175 217 2182 23583 2571 27255 3098 31 3251 3339 353 3703 3958 3992 4051 412 4122 4126 414 4684 4952 50863 5091 523 5290 5291 5293 5294 53942 54187 55300 5621 56994 5728 5730 6319 6389 6392 64116 6487 6515 6609 79143 79868 79947 81562 8443 8704 8867 9126 9415 952	Homo sapiens (human)
DOID:10915	Wernicke-Korsakoff syndrome Aliases: Korsakoff Syndrome Korsakoff's psychosis Korsakoff's syndrome Korsakov psychosis Korsakov's psychosis	ACACA ADH1B AKR1A1 ALDH2 CAT COMT CYP19A1 DLST GAD1 GLUL PIK3CA PIK3CB PIK3CD PIK3CG PNPLA3 TKT	10327 125 1312 1588 1743 217 2571 2752 31 5290 5291 5293 5294 7086 80339 847	Homo sapiens (human)
DOID:2526	prostate adenocarcinoma	ACACA ADIPOQ AKR1C3 AKT1 AKT2 ALOX15B AMACR APRT BRAF CALR CCDC115 CD44 CEACAM5 CYP19A1 CYP7B1 DCXR FASN GAD1 HADHB HPGDS IDH1 PIK3CA PIK3CB PLPP1 PPT1 PTEN PTGS2 SCD SFTPD SIGLEC7 UGT2B15 VCAN	1048 1462 1588 207 208 2194 23600 247 2571 27036 27306 3032 31 3417 353 51181 5290 5291 5538 5728 5743 6319 6441 673 7366 811 84317 8611 8644 9370 9420 960	Homo sapiens (human)
DOID:420	hypertrichosis	ACACA AGPAT2 ARSB COG7 CYP11B1 CYP21A2 ECHS1 FUCA1 GLB1 GNS GUSB H6PD HGSNAT HSD3B2 IDS MAN2B1 NAGLU NANS PAPSS2 PDHA1 PTGDS SDHA SGSH SMC3 SRD5A3 XYLT1	10555 138050 1584 1589 1892 2517 2720 2799 2990 31 3284 3423 411 4125 4669 5160 54187 5730 6389 64131 6448 79644 9060 9126 91949 9563	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:0090122	aromatase excess syndrome Aliases: AEXS familial hyperestrogenism hereditary prepubertal gynecomastia increased aromatase activity	ACACA AGPAT2 CD44 CFC1 CYP11B1 CYP19A1 CYP21A2 CYP2B6 H6PD IDH1 IDH2 PIGP PIGQ PTEN PTGS2 SLC35A2	10555 1555 1584 1588 1589 31 3417 3418 51227 55997 5728 5743 7355 9091 9563 960	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)
DOID:2645	benign mesothelioma Aliases: benign 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)
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: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: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: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: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: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: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)

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