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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	January 28, 2025
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **4401 - 4425** of **5716** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▲
DOID:1826	epilepsy Aliases: epilepsy syndrome epileptic syndrome	Atpalpha Nrg Sh Tmtc3 cac eag nrv2 para	31792 32158 32428 32619 32780 33953 37401 48971	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:1827	generalized epilepsy Aliases: idiopathic generalized epilepsy	Dnm1 Gabra1	13429 14394	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1827	generalized epilepsy Aliases: idiopathic generalized epilepsy	HCN4 KCNMA1	10021 3778	Homo sapiens (human)	Alliance of Genome Resources
DOID:1838	Menkes disease Aliases: COPPER TRANSPORT DISEASE Menkes kinky-hair syndrome steely hair syndrome	ATP7A LOX	4015 538	Homo sapiens (human)	Alliance of Genome Resources
DOID:1838	Menkes disease Aliases: COPPER TRANSPORT DISEASE Menkes kinky-hair syndrome steely hair syndrome	Atp7a Lox	11977 16948	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1849	cannabis dependence	ABCB1 ACHE COMT NRG1	1312 3084 43 5243	Homo sapiens (human)	Alliance of Genome Resources
DOID:1852	intrahepatic cholestasis Aliases: neonatal intrahepatic cholestasis	ABCB11 ABCB4 HSD3B7	5244 80270 8647	Homo sapiens (human)	Alliance of Genome Resources
DOID:1852	intrahepatic cholestasis Aliases: neonatal intrahepatic cholestasis	Abcb4	18670	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1856	cherubism	SH3BP2	6452	Homo sapiens (human)	Alliance of Genome Resources
DOID:1875	impotence Aliases: Sexual impotence erectile dysfunction	Agt Akt1 Bad Cnr1 Igfbp3 Nos1 P2ry1 P2ry2	24179 24185 24484 24598 25248 25265 29597 64639	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:1875	impotence Aliases: Sexual impotence erectile dysfunction	XRCC1	7515	Homo sapiens (human)	Alliance of Genome Resources
DOID:1875	impotence Aliases: Sexual impotence erectile dysfunction	Adamtsl2	77794	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1882	atrial heart septal defect Aliases: atrial septal defect atrioseptal defect auricular septal defect congenital atrial septal defect interatrial septal defect interauricular septal defect	BMP4 GATA4 SOS1 TBX2	2626 652 6654 6909	Homo sapiens (human)	Alliance of Genome Resources
DOID:1883	hepatitis C Aliases: NANBH Viral hepatitis C chronic hepatitis C hepatitis C infection hepatitis nonA nonB	AFP CCL5 CCR5 HLA-DQA1 HLA-DQB1 HLA-DRB1 HLA-G IFNAR1 IFNG IFNL1 IL10 IL12A IL4 IL6 KIR3DL1 KIR3DS1 LDLR MBL2 PDCD1 SAMHD1 TLR3 TLR9	1234 174 25939 282618 3117 3119 3123 3135 3454 3458 3565 3569 3586 3592 3811 3813 3949 4153 5133 54106 6352 7098	Homo sapiens (human)	Alliance of Genome Resources
DOID:1884	viral hepatitis Aliases: Viral hepatitis with hepatic coma animal viral hepatitis human viral hepatitis	IL2	3558	Homo sapiens (human)	Alliance of Genome Resources
DOID:1891	optic nerve disease Aliases: disorder of the second nerve optic nerve disorder optic neuropathy	ACO1	851013	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:1891	optic nerve disease Aliases: disorder of the second nerve optic nerve disorder optic neuropathy	EDN1	1906	Homo sapiens (human)	Alliance of Genome Resources
DOID:1907	malignant fibrous histiocytoma Aliases: Fibroxanthosarcoma MFH	PPARGC1A	10891	Homo sapiens (human)	Alliance of Genome Resources
DOID:1909	melanoma Aliases: Naevocarcinoma malignant melanoma	ERS1	850438	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:1909	melanoma Aliases: Naevocarcinoma malignant melanoma	Braf	109880	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1909	melanoma Aliases: Naevocarcinoma malignant melanoma	AGER ASS1 BMP4 BRCA2 CAT CD40 CTLA4 ERCC5 FAS FASLG HLA-DQA1 IL1RN JUNB LRP1B MC1R NFKB1 NRAS RNASET2 SPP1 TERT TLR4 TP53 TYR	1493 177 2073 3117 355 3557 356 3726 4157 445 4790 4893 53353 652 6696 675 7015 7099 7157 7299 847 8635 958	Homo sapiens (human)	Alliance of Genome Resources
DOID:1919	Lesch-Nyhan syndrome Aliases: Complete hypoxanthine-guanine phosphoribosyltransferase deficiency HG-PRT deficiency HPRT1 deficiency Hypoxanthine-guanine phosphoribosyltransferase deficiency Hypoxanthine-guanine-phosphoribosyltransferase deficiency Lesch - Nyhan syndrome X-linked hyperuricemia deficiency of IMP pyrophosphorylase hypoxanthine guanine phosphoribosyltransferase deficiency	Hprt1	15452	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1919	Lesch-Nyhan syndrome Aliases: Complete hypoxanthine-guanine phosphoribosyltransferase deficiency HG-PRT deficiency HPRT1 deficiency Hypoxanthine-guanine phosphoribosyltransferase deficiency Hypoxanthine-guanine-phosphoribosyltransferase deficiency Lesch - Nyhan syndrome X-linked hyperuricemia deficiency of IMP pyrophosphorylase hypoxanthine guanine phosphoribosyltransferase deficiency	Aprt	48224	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:1919	Lesch-Nyhan syndrome Aliases: Complete hypoxanthine-guanine phosphoribosyltransferase deficiency HG-PRT deficiency HPRT1 deficiency Hypoxanthine-guanine phosphoribosyltransferase deficiency Hypoxanthine-guanine-phosphoribosyltransferase deficiency Lesch - Nyhan syndrome X-linked hyperuricemia deficiency of IMP pyrophosphorylase hypoxanthine guanine phosphoribosyltransferase deficiency	HPRT1	3251	Homo sapiens (human)	Alliance of Genome Resources
DOID:1920	hyperuricemia Aliases: Blood urate raized uricacidemia	APOE	348	Homo sapiens (human)	Alliance of Genome Resources

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