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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 **3376 - 3400** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0110676	congenital myasthenic syndrome 13 Aliases: CMS13 CMSTA2 congenital myasthenic syndrome 13 with tubular aggregates congenital myasthenic syndrome with tubular aggregates 2	ALG7	852545	Saccharomyces cerevisiae S288C
DOID:13608	biliary atresia Aliases: Atresia of bile duct Congenital biliary atresia biliary atresia, congenital	Adipoq	11450	Mus musculus (house mouse)
DOID:0070174	spermatogenic failure 17 Aliases: Male infertility due to oocyte activation failure SPGF17	PLCZ1	89869	Homo sapiens (human)
DOID:9655	oral mucosa leukoplakia	Trp53	22059	Mus musculus (house mouse)
DOID:0111230	congenital muscular dystrophy-dystroglycanopathy type A11 Aliases: MDDGA11 Walker-Warburg syndrome or muscle-eye-brain disease B3GALNT2-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A11	b3galnt2	553716	Danio rerio (zebrafish)
DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma Aliases: B-cell lymphocytic leukemia/small lymphocytic lymphoma CLL/SLL	FCER2 SLC35B2	2208 347734	Homo sapiens (human)
DOID:2754	glycogen storage disease VI Aliases: Glycogen storage disease 6 Hers' disease glycogen storage disease type VI hepatic glycogen phosphorylase deficiency hepatophosphorylase deficiency glycogenosis	Glyp	33386	Drosophila melanogaster (fruit fly)
DOID:0111035	CADASIL 1 Aliases: autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 1	CTSA DCN	1634 5476	Homo sapiens (human)
DOID:0050902	medulloblastoma Aliases: CNS PNET CPNET Medulloblastoma, histologically defined brain medulloblastoma infratentorial primitive neuroectodermal tumor localized primitive neuroectodermal tumor	ABO ACHE ALOX5 AMACR APRT ASAH1 CALR CANX CD1D CD38 CHGA CHPT1 COL9A2 CYP1A1 CYP1B1 CYP2B6 CYP3A5 DAG1 DHDDS EFNA5 ENO2 FOLR1 FUT4 GPC3 GYS2 HK2 HMMR HPGDS HPSE IDH1 IDH2 IDUA INPP5E LDHA LDHB MELTF MMUT MRC1 NT5E PAFAH1B1 PARP1 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PKM POMGNT1 PTEN PTGDS PTGS2 SDC1 SIGLEC7 SULT1E1 TDG TNKS TP53 TREH UGCG VCAN	10855 1113 11181 1298 142 1462 1543 1545 1555 1577 1605 1946 2026 2348 23600 240 2526 27036 2719 27306 28 2998 3099 3161 3417 3418 3425 353 3939 3945 4241 427 43 4360 4594 4907 5048 5130 5290 5291 5293 5294 5315 55624 56623 56994 5728 5730 5743 6382 6783 6996 7157 7357 79947 811 821 8658 912 952	Homo sapiens (human)
DOID:4235	spindle cell sarcoma	ACAN ACSL4 ACSS2 ANXA5 ARSF B3GAT1 CD109 CD14 CD1D CD248 CD44 CEL CHSY1 CMAS COL9A2 CSPG4 DCN DHCR24 ENPP2 EXTL3 FBP2 FCGR3B GLUL GPC3 GPC5 HK2 HPRT1 HPSE IDH1 IDH2 ISYNA1 KLRK1 LGALS1 LSS MRC1 MTAP NANS NCAM1 OGA OS9 PARP1 PARP9 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PLAUR PLD2 PTEN PTGS2 SDHA SDHB SDHC SELP SIRT2 SLC27A5 SMUG1 STS TM7SF2 UGT1A1	1056 10724 10855 10956 10998 1298 135228 142 1464 1634 1718 176 2137 2182 2215 2262 22856 22914 22933 23583 23659 27087 2719 2752 308 3099 3251 3417 3418 3956 4047 412 416 4360 4507 4684 51477 5168 5290 5291 5293 5294 5329 5338 54187 54658 55902 55907 57124 5728 5743 6389 6390 6391 6403 7108 83666 8789 912 929 960	Homo sapiens (human)
DOID:9279	hyperhomocysteinemia	Zw	32974	Drosophila melanogaster (fruit fly)
DOID:5520	head and neck squamous cell carcinoma Aliases: carcinoma of the head and neck squamous cell carcinoma of the head and neck squamous cell carcinomas of head and neck	ACACA ACACB ACHE ACOT7 ADH1B ADH1C ADH7 AKR1A1 AKR1C1 ALDH2 ALDH3A1 ALG3 ALOX15B ALOX5 ANXA5 APRT ASAH1 BST2 C1GALT1 CALR CANX CAT CBR1 CD33 CD44 CDH13 CEACAM6 CERS1 CERS6 CMAS COMT CSPG4 CYP1A1 CYP1A2 CYP1B1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP2J2 CYP2R1 DHCR24 DLAT ENO1 EXT1 EXTL3 FCGR3B FOLR2 FUT1 FUT4 GALC GALNS GGT1 GLB1 GPAA1 GPD1L GPI GPNMB GPX1 GPX3 GUSB HK2 HPGDS HPSE2 HPSE HSD17B12 HYAL1 IDH2 IDUA IGF2R IL18R1 IL1RAP ISYNA1 JMJD7-PLA2G4B KL LDHA LGALS1 LGALS3 LGALS9 LY6K ME1 MICA MMP17 MRC1 MUTYH NAMPT NANS NCAM1 NEIL1 NEU1 NSDHL NT5E NTNG1 OGG1 PARP1 PDHA1 PFKFB3 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G4B PLAUR PLCE1 PNP PRKAA2 PRNP PSMD10 PTEN PTGES PTGIS PTGS1 PTGS2 PYGM REG3G SCD SDC1 SELL SELP SHMT1 SHMT2 SIGLEC1 SIRT4 SIRT6 SLC17A5 SLC2A3 SLC2A4 SMPD1 SMUG1 SOAT1 SPTLC3 SULF1 SULT1E1 TALDO1 THEM4 TKTL1 TPI1 TYMP UGCG UGT1A1 UGT1A6 UGT1A7 UGT2B17 ULBP1	100137049 100507436 1012 10135 10195 10327 10457 10715 10855 11332 117145 120227 125 126 130120 131 1312 142 1464 1543 1544 1545 1555 1557 1559 1571 1573 1645 1718 1737 1890 2023 2131 2137 217 218 2215 22854 23171 23213 23409 2350 23583 240 247 2523 2526 253782 2581 2588 26503 2678 2720 27306 2821 2876 2878 2990 308 3099 31 32 3373 3418 3425 3482 353 3556 3939 3956 3958 3965 4199 427 43 4326 4360 4595 4680 4684 4758 4860 4907 4968 50814 51144 51196 51477 51548 5160 5209 5290 5291 5293 5294 5315 5329 54187 54577 54578 54658 54742 55304 5563 55907 5621 56913 5716 5728 5740 5742 5743 5837 60495 6319 6382 6402 6403 6470 6472 6515 6517 6609 6614 6646 6783 684 6888 7167 7357 7367 79661 80329 811 821 8277 847 8681 873 8733 8809 9365 945 9536 960	Homo sapiens (human)
DOID:684	hepatocellular carcinoma Aliases: Hepatoma	neil3.L plod3.L plod3.S	100380996 380138 495489	Xenopus laevis (African clawed frog)
DOID:289	endometriosis	Tnf	24835	Rattus norvegicus (Norway rat)
DOID:3329	benign epilepsy with centrotemporal spikes Aliases: BCECTS benign Rolandic epilepsy benign childhood epilepsy with centrotemporal spike rolandic epilepsy sylvan seizures	ARSA ASAH1 EPM2A MDGA2 PLCB1	161357 23236 410 427 7957	Homo sapiens (human)
DOID:8505	dermatitis herpetiformis Aliases: Dermatosis herpetiformis Duhring's disease	Tnf	24835	Rattus norvegicus (Norway rat)
DOID:1350	paranasal sinus benign neoplasm Aliases: neoplasm of accessory sinus tumor of Accessory sinus	Tp53	24842	Rattus norvegicus (Norway rat)
DOID:0050579	glycogen storage disease XV Aliases: Glycogen storage disease 15 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency glycogen storage disease type XV	gyg1	394883	Xenopus tropicalis (tropical clawed frog)
DOID:4840	sebaceous carcinoma Aliases: Malignant Sebaceous Neoplasm malignant Sebaceous tumor malignant neoplasm of sebaceous gland	ACSL5 CAT CD44 CD74 CEACAM5 COLEC10 CYP19A1 CYP1B1 FASN GPC3 HAS1 HSD17B7 KLRK1 LGALS1 LYPD5 MICA NEU1 PGP PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 SCD SDC1 SMUG1 UMPS	100507436 1048 10584 1545 1588 2194 22914 23583 2719 283871 284348 3036 3956 4758 51478 51703 5290 5291 5293 5294 5728 5743 6319 6382 7372 847 960 972	Homo sapiens (human)
DOID:440	neuromuscular disease	ACE ACHE ACSL4 APRT CHAT DAG1 FKRP GAA GFPT1 GNE GPI MAG MGAM MTM1 PIK3CA PIK3CB PIK3CD PKD1L2 POMT1 PTGS1 TPI1	10020 10585 1103 114780 1605 1636 2182 2548 2673 2821 353 4099 43 4534 5290 5291 5293 5742 7167 79147 8972	Homo sapiens (human)
DOID:0110293	autosomal recessive limb-girdle muscular dystrophy type 2P Aliases: LGMD2P MDDGC9 muscular dystrophy-dystroglycanopathy (limb-girdle) type C9 muscular dystrophy-dystroglycanopathy limb-girdle DAG1-related	ACAN ACE ACHE AGK AGL ALDH7A1 ALOX12 ALPP APRT ATRNL1 B3GALNT2 B4GALNT2 B4GAT1 CD44 CHKA CHKB CRPPA CTNS DAG1 DCN DPEP1 DPM1 DPM2 DPM3 ENO1 FKRP FKTN GAA GK GLB1 GMPPB GNE HACD1 HPGDS HSPG2 IDH2 IMPA1 INPP5B INPP5K LARGE1 LARGE2 LGALS3 MBL2 MGAM PARP1 PIK3C2A PMM2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRG2 PRKAA2 PYGM RGN RXYLT1 SDC2 SI SIRT2 SLC3A1 ST3GAL4 SYNJ1 SYNJ2	10020 10329 10585 11041 1119 1120 120071 124872 142 148789 1497 1605 1634 1636 176 178 1800 2023 2218 22933 239 250 2548 26033 2710 2720 27306 29925 29954 3339 3418 353 3612 3633 3958 4153 43 501 51763 5286 5373 54344 5553 55624 5563 55750 56983 5837 6383 6476 6484 6519 729920 79147 84197 84892 8813 8818 8867 8871 8972 9104 9200 9215 960	Homo sapiens (human)
DOID:1492	obsolete eye and adnexa disease	ACE AKR1A1 PLA2G7 SORD	10327 1636 6652 7941	Homo sapiens (human)
DOID:0080762	autosomal recessive limb-girdle muscular dystrophy type 2Z Aliases: limb-girdle muscular dystrophy 21	POGLUT1	56983	Homo sapiens (human)
DOID:10952	nephritis	Parp1	3355109	Drosophila melanogaster (fruit fly)
DOID:332	amyotrophic lateral sclerosis Aliases: ALS Lou Gehrig's disease motor neuron disease, bulbar	ACAT2 ACE ACHE ADH5 ALOX15 ALOX5 ALPP APRT ATRNL1 CALR CAT CBR1 CD14 CEACAM6 CHGA CHI3L1 CHI3L2 CHIT1 CHST2 CLEC10A CNTFR CS CTBS CYP19A1 CYP1A1 CYP1A2 CYP27A1 DGAT1 DHDDS DLD EFNA5 FCGR3B FCN3 FIG4 GAL3ST1 GAPDH GBA1 GFRA1 GLCE GLT8D1 GLUL GOT1 GPNMB GPX3 GPX7 GSK3A GSK3B HADHA HEXA HK1 HPGDS IGF2R IL18R1 INPP5B KL LGALS1 LGALS2 LGALS3 LGALS4 MDH1 MGAM MGLL MRC1 NAMPT NCAM1 NGLY1 OGA PARP1 PCYT1B PDIA3 PGK1 PIGL PLA2G4A PLCB1 PLCD1 PNPLA6 PPARGC1A PRNP PSAP PTEN PTGES PTGS2 SARM1 SCD SI SIGLEC7 SIRT2 SIRT6 SLC33A1 SLC35A1 SMUG1 SOAT1 ST3GAL3 SULT1E1 SYNJ1 SYNJ2 THEM4 TMED9 TNKS UGCG	10135 10457 10462 10559 10724 10891 10908 1113 1116 1117 1118 11343 117145 1271 128 142 1431 1486 1543 1544 1588 1593 1636 1738 1946 2215 22933 23098 23236 23583 240 246 250 2597 26033 26035 2629 2674 27036 27306 2752 2805 2878 2882 2923 2931 2932 3030 3073 3098 3482 353 3633 39 3956 3957 3958 3960 4190 43 4360 4680 4684 51548 5230 5321 5333 54732 55768 55830 5621 5660 5728 5743 6319 6476 6487 6646 6783 7357 79947 811 847 8547 8658 8694 873 8809 8867 8871 8972 9197 929 9365 9435 9468 9487 9514 9536 9896	Homo sapiens (human)

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