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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **4026 - 4050** of **7942** in total

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Disease ID	Disease Name ▼	Gene Symbol	Gene ID	Organism
DOID:0080410	familial adenomatous polyposis 2 Aliases: MUTYH-associated polyposis MUTYH-related attenuated FAP MUTYH-related attenuated familial adenomatous polyposis MUTYH-related attenuated familial polyposis coli	Mutyh	70603	Mus musculus (house mouse)
DOID:0080409	familial adenomatous polyposis 1	ADH1C ALDH1A3 ALOX15 ALPP ANXA5 B3GNT6 BAAT CALR CBR1 CD44 CD55 CDH13 CEACAM5 CEACAM7 CLC CNTN1 DLD DPEP1 ENPP7 FUT4 G6PD GALNT12 GCK GLB1 GUSB HPGDS KLRK1 LCT LGALS4 MICA MRC1 MUTYH NTHL1 OGG1 PAFAH1B1 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PKD2 PLA2G10 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLA2G7 PLB1 PLCG2 PRKAA2 PSMD10 PTEN PTGES PTGS1 PTGS2 RPE RPIA SMPD1 SMUG1 SOAT1 TNKS UGT1A3	100507436 1012 1048 1087 1178 126 1272 142 151056 1604 1738 1800 192134 220 22914 22934 23583 246 250 2526 2539 2645 2720 27306 2990 308 339221 3938 3960 4360 4595 4913 4968 5048 5290 5291 5293 5294 5311 5319 5320 5321 5336 54659 5563 570 5716 5728 5742 5743 6120 6609 6646 7941 79695 811 8398 8399 8658 873 9536 960	Homo sapiens (human)
DOID:0111420	familial GPIHBP1 deficiency Aliases: familial glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 deficiency hyperlipoproteinemia type 1D hyperlipoproteinemia type ID	GPIHBP1	338328	Homo sapiens (human)
DOID:1963	fallopian tube carcinoma Aliases: cancer of the fallopian tube carcinoma of fallopian tube fallopian tube Ca	MRC1	4360	Homo sapiens (human)
DOID:1964	fallopian tube cancer Aliases: fallopian tube neoplasm malignant neoplasm of uterine tube malignant tumor of fallopian tube malignant tumour of fallopian tube neoplasm of fallopian tube tumor of the fallopian tube tumor, fallopian tube, malignant	MRC1	4360	Homo sapiens (human)
DOID:2211	factor XIII deficiency Aliases: Factor XIII deficiency disease Hereditary factor XIII deficiency disease deficiency, Laki-Lorand factor	LMAN1	3998	Homo sapiens (human)
DOID:2231	factor XII deficiency Aliases: Factor XII deficiency disease Hageman Factor deficiency deficiency, Hageman	MGAT2 PGAP1	4247 80055	Homo sapiens (human)
DOID:12134	factor VIII deficiency Aliases: Congenital factor VIII disorder Hemophilia A Subhemophilia classic hemophilia A	ABO FUT1 G6PD GUSB HPSE2 LMAN1 MCFD2 MRC1 PRNP	2523 2539 28 2990 3998 4360 5621 60495 90411	Homo sapiens (human)
DOID:2215	factor VII deficiency Aliases: deficiency, stable	LMAN1 MCFD2 NGLY1 PC	3998 5091 55768 90411	Homo sapiens (human)
DOID:2216	factor V deficiency Aliases: Hereditary hypoproaccelerinaemia Labile factor deficiency Proaccelerin deficiency deficiency, labile	LMAN1 MCFD2 NGLY1 PC	3998 5091 55768 90411	Homo sapiens (human)
DOID:11727	facioscapulohumeral muscular dystrophy Aliases: Landouzy Dejerine muscular dystrophy Landouzy-Dejerine muscular dystrophy Muscular dystrophy, Landouzy-Dejerine	large1	100498555	Xenopus tropicalis (tropical clawed frog)
DOID:11727	facioscapulohumeral muscular dystrophy Aliases: Landouzy Dejerine muscular dystrophy Landouzy-Dejerine muscular dystrophy Muscular dystrophy, Landouzy-Dejerine	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:11727	facioscapulohumeral muscular dystrophy Aliases: Landouzy Dejerine muscular dystrophy Landouzy-Dejerine muscular dystrophy Muscular dystrophy, Landouzy-Dejerine	lge-1	187206	Caenorhabditis elegans
DOID:11727	facioscapulohumeral muscular dystrophy Aliases: Landouzy Dejerine muscular dystrophy Landouzy-Dejerine muscular dystrophy Muscular dystrophy, Landouzy-Dejerine	Large1	16795	Mus musculus (house mouse)
DOID:11727	facioscapulohumeral muscular dystrophy Aliases: Landouzy Dejerine muscular dystrophy Landouzy-Dejerine muscular dystrophy Muscular dystrophy, Landouzy-Dejerine	Large1	361368	Rattus norvegicus (Norway rat)
DOID:11727	facioscapulohumeral muscular dystrophy Aliases: Landouzy Dejerine muscular dystrophy Landouzy-Dejerine muscular dystrophy Muscular dystrophy, Landouzy-Dejerine	large1	446213	Danio rerio (zebrafish)
DOID:0111192	facioscapulohumeral muscular dystrophy 1 Aliases: FSHD1 facioscapulohumeral muscular dystrophy type 1 facioscapulohumeral muscular dystrophy type 1A	ACAN ALPP ATRNL1 CD44 DCN HSPG2 LARGE1 SDC2 ST3GAL4	1634 176 250 26033 3339 6383 6484 9215 960	Homo sapiens (human)
DOID:13934	facial paralysis Aliases: Facial Palsy	ACADS ACSL4 AGRN ALG13 ALG14 ALG2 ASAH1 CHKB DPAGT1 FKRP GFPT1 GMPPB GNE HPGDS IL1RAPL1 LARGE1 MTM1 MTMR14 MTMR2 POMT1 POMT2 PTDSS1 SMUG1	10020 10585 11141 1120 1798 199857 2182 23583 2673 27306 29925 29954 35 375790 427 4534 64419 79147 79868 85365 8898 9215 9791	Homo sapiens (human)
DOID:1756	facial nerve disease	ACADS ACSL4 AGRN ALG13 ALG14 ALG2 ASAH1 CHKB DPAGT1 FKRP GFPT1 GMPPB GNE HPGDS IL1RAPL1 LARGE1 MTM1 MTMR14 MTMR2 POMT1 POMT2 PTDSS1 SMUG1	10020 10585 11141 1120 1798 199857 2182 23583 2673 27306 29925 29954 35 375790 427 4534 64419 79147 79868 85365 8898 9215 9791	Homo sapiens (human)
DOID:1757	facial hemiatrophy Aliases: PARRY-ROMBERG SYNDROME	CD38	952	Homo sapiens (human)
DOID:530	eyelid disease	ALOX5 CEACAM5 CYP27A1 EPHX2 G6PC1 GPC1 PTGS1 SLC37A4	1048 1593 2053 240 2538 2542 2817 5742	Homo sapiens (human)
DOID:5614	eye disease	Tl	43222	Drosophila melanogaster (fruit fly)
DOID:5614	eye disease	Tlr2 Tlr4 Tnf	21898 21926 24088	Mus musculus (house mouse)
DOID:5614	eye disease	ARSI B3GLCT CA4 CACNA2D4 CDS1 CDS2 CLN5 COL9A2 CYP1B1 CYP27A1 CYP2C19 CYP2C9 DGKG ELOVL4 ENO1 ENO2 FREM1 ICAM1 IDH3B LDHA NYX PARP1 PIK3CD PLA2G5 PNPLA2 PPT1 RPE SCD SRD5A3 SULT1E1 TLR2 TLR4 TNF VCAN	1040 1203 1298 142 145173 1462 1545 1557 1559 158326 1593 1608 2023 2026 3383 340075 3420 3939 5293 5322 5538 57104 60506 6120 6319 6783 6785 7097 7099 7124 762 79644 8760 93589	Homo sapiens (human)
DOID:5614	eye disease	Tlr4 Tnf	24835 29260	Rattus norvegicus (Norway rat)

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