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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 **426 - 450** of **7942** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0050814	temtamy preaxial brachydactyly syndrome Aliases: PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE	chsy1.L chsy1.S	108711484 108712816	Xenopus laevis (African clawed frog)
DOID:0050814	temtamy preaxial brachydactyly syndrome Aliases: PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE	CHSY1 TGDS	22856 23483	Homo sapiens (human)
DOID:0050814	temtamy preaxial brachydactyly syndrome Aliases: PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE	chsy1	100036707	Xenopus tropicalis (tropical clawed frog)
DOID:0050814	temtamy preaxial brachydactyly syndrome Aliases: PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE	Chsy1	292999	Rattus norvegicus (Norway rat)
DOID:0050816	urofacial syndrome Aliases: Ochoa syndrome hydronephrosis with peculiar facial expression	Hpse2	545291	Mus musculus (house mouse)
DOID:0050816	urofacial syndrome Aliases: Ochoa syndrome hydronephrosis with peculiar facial expression	HPSE2 HPSE	10855 60495	Homo sapiens (human)
DOID:0050817	Stargardt disease Aliases: STARGARDT DISEASE 1	AKR1A1 ELOVL4 NYX PNPLA6 PPT1 RPE	10327 10908 5538 60506 6120 6785	Homo sapiens (human)
DOID:0050818	transcobalamin II deficiency Aliases: TCN2 deficiency	MMUT	4594	Homo sapiens (human)
DOID:0050819	obsolete Matthew-Wood syndrome	ABO ACE ACYP2 AKR1B10 ALDH7A1 APRT ARSA ARSH C1GALT1 C1GALT1C1 CALR CD177 CD38 CD44 CEACAM5 CEACAM7 CEL CEMIP CERK CHKA CHST15 CYP3A5 DPEP1 ENO1 FASN FBP1 FCGR3B FCN2 FDPS FUT3 FUT4 GAD1 GALNT3 GAPDH GLUL GOLPH3 GP2 GPC1 GPC5 GPI GPX1 HAS2 HK1 HK2 HMMR HYAL2 IDH1 INPP5D KL L1CAM LDHB LGALS1 LGALS3 LGALS4 LPCAT2 MCAT MDH1 ME2 MLYCD MMUT MRC1 MSLN NT5E OGA OGT PAFAH1B2 PARG PARP1 PDHX PGAM1 PGD PGK1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLAUR PLCD1 PLCD3 PLD1 PNPLA2 PRNP PTEN PTGS2 REG1B REG3G SDC1 SDC2 SIGLEC7 SIRT6 SLC17A5 SLC35F6 SMUG1 SOAT1 SQLE ST6GAL1 VCAM1 VCAN VTCN1	10232 1048 1056 10724 1087 1119 113026 130120 142 1462 1577 1636 1800 2023 2194 2203 2215 2220 2224 2262 23417 23583 2525 2526 2571 2591 2597 26503 27036 27349 2752 28 2813 2817 2821 2876 29071 3037 3098 3099 3161 3417 347527 353 3635 3897 3945 3956 3958 3960 410 4190 4200 4360 4594 4907 501 5049 51363 51548 5223 5226 5230 5290 5291 5293 5294 5315 5329 5333 5337 54947 54978 5621 56913 57016 57104 57126 57214 5728 5743 5968 6382 6383 64083 64781 6480 6646 6713 7412 79679 8050 811 8473 8505 8692 9365 952 960 98	Homo sapiens (human)
DOID:0050820	atrioventricular block Aliases: AV block	ACADVL ACE AGXT APRT ARSD CACNA2D1 CALR GLA MTM1 PKD2 SMUG1	1636 189 23583 2717 353 37 414 4534 5311 781 811	Homo sapiens (human)
DOID:0050827	rheumatic heart disease Aliases: rheumatic carditis	Gapdh1 Gapdh2	32545 35728	Drosophila melanogaster (fruit fly)
DOID:0050827	rheumatic heart disease Aliases: rheumatic carditis	Gapdh	24383	Rattus norvegicus (Norway rat)
DOID:0050827	rheumatic heart disease Aliases: rheumatic carditis	TDH1 TDH2 TDH3	853106 853395 853465	Saccharomyces cerevisiae S288C
DOID:0050827	rheumatic heart disease Aliases: rheumatic carditis	Gapdh	14433	Mus musculus (house mouse)
DOID:0050827	rheumatic heart disease Aliases: rheumatic carditis	CD209 GAPDH	2597 30835	Homo sapiens (human)
DOID:0050827	rheumatic heart disease Aliases: rheumatic carditis	gapdh	317743	Danio rerio (zebrafish)
DOID:0050827	rheumatic heart disease Aliases: rheumatic carditis	gpd-1 gpd-3 gpd-4	174578 174603 180601	Caenorhabditis elegans
DOID:0050830	peripheral artery disease	Adipoq Npy1r	11450 18166	Mus musculus (house mouse)
DOID:0050830	peripheral artery disease	ABO ACE ACOD1 ACSS2 ADIPOQ ALDH7A1 ARSA CD14 CHI3L1 CNTN3 CS CYP1A2 CYP2B6 ENPP1 IL1RL1 LGALS3 LIPC LPL NPY1R PCYT1A PLA2G15 PLA2G7 PTGS1 PTGS2 SELP SFTPD SLC2A10 SRD5A1 SRD5A2 SULT1E1 UGDH UGT1A1 VCAM1	1116 1431 1544 1555 1636 23659 28 3958 3990 4023 410 4886 501 5067 5130 5167 54658 55902 5742 5743 6403 6441 6715 6716 6783 730249 7358 7412 7941 81031 9173 929 9370	Homo sapiens (human)
DOID:0050833	orotic aciduria	UMPS	7372	Homo sapiens (human)
DOID:0050833	orotic aciduria	r-l	42493	Drosophila melanogaster (fruit fly)
DOID:0050833	orotic aciduria	URA3	856692	Saccharomyces cerevisiae S288C
DOID:0050833	orotic aciduria	Umps	22247	Mus musculus (house mouse)
DOID:0050833	orotic aciduria	R12E2.11 umps-1	172008 176453	Caenorhabditis elegans
DOID:0050834	CHARGE syndrome Aliases: CHARGE association	GALNT3 TP53	2591 7157	Homo sapiens (human)

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