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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 **3501 - 3525** of **7942** in total

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Disease ID	Disease Name ▼	Gene Symbol	Gene ID	Organism
DOID:9869	hereditary fructose intolerance syndrome Aliases: Fructosaemia Fructose-1,6-bisphosphate aldolase B deficiency Fructosemia	aldo-1	176788	Caenorhabditis elegans
DOID:2373	hereditary elliptocytosis Aliases: Congenital elliptocytosis ovalocytosis	ACSL4 ALDOA ALPL ALPP ATRNL1 CAT CD55 ENPP1 G6PD GPI HK1 NDUFAB1 PKLR TPI1 UGT8	1604 2182 226 249 250 2539 26033 2821 3098 4706 5167 5313 7167 7368 847	Homo sapiens (human)
DOID:13269	hereditary coproporphyria Aliases: Coproporphyrinogen oxidase deficiency hereditary coproporphyria porphyria	ACSM3 CPO	130749 6296	Homo sapiens (human)
DOID:5683	hereditary breast ovarian cancer syndrome Aliases: BRCA1- and BRCA2-associated hereditary breast and ovarian cancer Breast and Ovarian Cancer syndrome HBOC syndrome Hereditary Breast and Ovarian Cancer syndrome Hereditary breast and ovarian cancer	APRT DHRS11 HSD11B2 HSD17B1 HSD17B7 MRC1 PARP1 PTEN	142 3291 3292 353 4360 51478 5728 79154	Homo sapiens (human)
DOID:0050951	hereditary ataxia	HSD17B4 PRNP	3295 5621	Homo sapiens (human)
DOID:0111582	hereditary arterial and articular multiple calcification syndrome Aliases: CALJA arterial calcification and distal joint calcification arterial calcification due to CD73 deficiency arterial calcification due to deficiency of CD73 calcification of joints and arteries	NT5E	4907	Homo sapiens (human)
DOID:14735	hereditary angioedema Aliases: HANE Hereditary angioneurotic edema	hst-3.2	3564879	Caenorhabditis elegans
DOID:14735	hereditary angioedema Aliases: HANE Hereditary angioneurotic edema	hs3st6.L hs3st6.S	108701670 108703226	Xenopus laevis (African clawed frog)
DOID:14735	hereditary angioedema Aliases: HANE Hereditary angioneurotic edema	Hs3st6	684979	Rattus norvegicus (Norway rat)
DOID:14735	hereditary angioedema Aliases: HANE Hereditary angioneurotic edema	hs3st6	100489739	Xenopus tropicalis (tropical clawed frog)
DOID:14735	hereditary angioedema Aliases: HANE Hereditary angioneurotic edema	Hs3st6 Myof	226101 328779	Mus musculus (house mouse)
DOID:14735	hereditary angioedema Aliases: HANE Hereditary angioneurotic edema	ABO ACE HS3ST6 MASP2 MBL2 SMUG1 VCAM1 XPNPEP2	10747 1636 23583 28 4153 64711 7412 7512	Homo sapiens (human)
DOID:14735	hereditary angioedema Aliases: HANE Hereditary angioneurotic edema	si	797517	Danio rerio (zebrafish)
DOID:14735	hereditary angioedema Aliases: HANE Hereditary angioneurotic edema	Hs3st-B	32918	Drosophila melanogaster (fruit fly)
DOID:11823	hepatorenal syndrome	Tl	43222	Drosophila melanogaster (fruit fly)
DOID:11823	hepatorenal syndrome	Tlr4 Tnf	24835 29260	Rattus norvegicus (Norway rat)
DOID:11823	hepatorenal syndrome	TLR4 TNF VCAM1	7099 7124 7412	Homo sapiens (human)
DOID:11823	hepatorenal syndrome	Tlr4 Tnf	21898 21926	Mus musculus (house mouse)
DOID:900	hepatopulmonary syndrome	Tnf	24835	Rattus norvegicus (Norway rat)
DOID:900	hepatopulmonary syndrome	GBA1 PTEN PTGS2 TNF	2629 5728 5743 7124	Homo sapiens (human)
DOID:900	hepatopulmonary syndrome	Tnf	21926	Mus musculus (house mouse)
DOID:5230	hepatoerythropoietic porphyria	HPSE	10855	Homo sapiens (human)
DOID:5016	hepatocellular clear cell carcinoma Aliases: Clear cell carcinoma of the Liver cells Hepatocellular carcinoma, clear cell type	IDP1 IDP2 IDP3	850871 851493 855723	Saccharomyces cerevisiae S288C
DOID:5016	hepatocellular clear cell carcinoma Aliases: Clear cell carcinoma of the Liver cells Hepatocellular carcinoma, clear cell type	Idh1 Idh2 Lep Lepr	15926 16846 16847 269951	Mus musculus (house mouse)
DOID:5016	hepatocellular clear cell carcinoma Aliases: Clear cell carcinoma of the Liver cells Hepatocellular carcinoma, clear cell type	IDH1 IDH2 LEP LEPR	3417 3418 3952 3953	Homo sapiens (human)

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