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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 **3901 - 3925** of **7942** in total

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Disease ID	Disease Name ▲	Gene Symbol	Gene ID	Organism
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: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	446213	Danio rerio (zebrafish)
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	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	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: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:2215	factor VII deficiency Aliases: deficiency, stable	LMAN1 MCFD2 NGLY1 PC	3998 5091 55768 90411	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:2231	factor XII deficiency Aliases: Factor XII deficiency disease Hageman Factor deficiency deficiency, Hageman	MGAT2 PGAP1	4247 80055	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: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:1963	fallopian tube carcinoma Aliases: cancer of the fallopian tube carcinoma of fallopian tube fallopian tube Ca	MRC1	4360	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: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: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	CEACAM5 CEMIP MUTYH	1048 4595 57214	Homo sapiens (human)
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: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	170841	Rattus norvegicus (Norway rat)
DOID:0080411	familial adenomatous polyposis 3	nth-1	187770	Caenorhabditis elegans
DOID:0080411	familial adenomatous polyposis 3	NTHL1	4913	Homo sapiens (human)
DOID:0080411	familial adenomatous polyposis 3	Nthl1	18207	Mus musculus (house mouse)
DOID:0080411	familial adenomatous polyposis 3	NTG1 NTG2	851218 854114	Saccharomyces cerevisiae S288C
DOID:0050424	familial adenomatous polyposis Aliases: adenomatous polyposis of the colon	Mutyh	70603	Mus musculus (house mouse)
DOID:0050424	familial adenomatous polyposis Aliases: adenomatous polyposis of the colon	ABO ACSS2 ADH1C ALDH1A3 ALOX15 ALPP ANXA5 B3GNT6 BAAT CALR CBR1 CD44 CD55 CDH13 CEACAM5 CEACAM7 CHGA CLC CNTN1 CYP1B1 CYP3A4 DCN DHCR24 DLD DPEP1 ENPP7 FH FUT4 G6PD GALNT12 GCK GLB1 GUSB HPGDS ICAM1 KL KLRK1 LCT LGALS4 MICA MRC1 MUTYH NTHL1 OGG1 PAFAH1B1 PARP1 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PKD2 PLA2G10 PLA2G15 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLA2G7 PLB1 PLCG1 PLCG2 PRKAA2 PSMD10 PTEN PTGES PTGS1 PTGS2 PYGM RPE RPIA SDHA SDHB SLC2A2 SLC2A3 SMPD1 SMUG1 SOAT1 TNKS UGT1A3	100507436 1012 1048 1087 1113 1178 126 1272 142 151056 1545 1576 1604 1634 1718 1738 1800 192134 220 2271 22914 22934 23583 23659 246 250 2526 2539 2645 2720 27306 28 2990 308 3383 339221 3938 3960 4360 4595 4913 4968 5048 5130 5290 5291 5293 5294 5311 5319 5320 5321 5335 5336 54659 5563 55902 570 5716 5728 5742 5743 5837 6120 6389 6390 6514 6515 6609 6646 7941 79695 811 8398 8399 8658 873 9365 9536 960	Homo sapiens (human)

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