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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 **51 - 75** of **5716** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0050436	mulibrey nanism Aliases: MUL Mulibrey growth disorder Muscle-Liver-Brain-Eye Nanism PERICARDIAL CONSTRICTION AND GROWTH FAILURE Perheentupa Syndrome	TRIM37	4591	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050437	Danon disease Aliases: ANTOPOL DISEASE PSEUDOGLYCOGENOSIS II	Lamp2	24944	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050437	Danon disease Aliases: ANTOPOL DISEASE PSEUDOGLYCOGENOSIS II	LAMP2	3920	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050437	Danon disease Aliases: ANTOPOL DISEASE PSEUDOGLYCOGENOSIS II	Lamp2	16784	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050439	Usher syndrome	ARSG MYO7A USH2A	22901 4647 7399	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050440	familial partial lipodystrophy Aliases: Dunnigan Syndrome Koberling-Dunnigan Syndrome	Pparg	19016	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050440	familial partial lipodystrophy Aliases: Dunnigan Syndrome Koberling-Dunnigan Syndrome	ADRA2A LMNA	150 4000	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050441	mucosulfatidosis Aliases: Sulfatidosis, Juvenile, Austin Type multiple sulfatase deficiency disease	Sumf1	58911	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050441	mucosulfatidosis Aliases: Sulfatidosis, Juvenile, Austin Type multiple sulfatase deficiency disease	SUMF1	285362	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0050445	X-linked hypophosphatemic rickets Aliases: Hypophosphatemia, Vitamin D-Resistant Rickets Vitamin D-Resistant Rickets, X-Linked X-linked dominant hypophosphatemic rickets X-linked hypophosphatemia hypophosphatemic rickets X-linked dominant	Phex	18675	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050445	X-linked hypophosphatemic rickets Aliases: Hypophosphatemia, Vitamin D-Resistant Rickets Vitamin D-Resistant Rickets, X-Linked X-linked dominant hypophosphatemic rickets X-linked hypophosphatemia hypophosphatemic rickets X-linked dominant	PHEX	5251	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050449	pachyonychia congenita Aliases: Jackson-Lawler Type Pachyonychia Congenita Jadassohn-Lewandowsky Syndrome PACHYONYCHIA CONGENITA, JADASSOHN-LEWANDOWSKY TYPE Pachyonychia Congenita Type 1	KRT17	3872	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050450	Gitelman syndrome Aliases: HYPOMAGNESEMIA-HYPOKALEMIA, PRIMARY RENOTUBULAR, WITH HYPOCALCIURIA	Slc12a3 Wnk4	20497 69847	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050450	Gitelman syndrome Aliases: HYPOMAGNESEMIA-HYPOKALEMIA, PRIMARY RENOTUBULAR, WITH HYPOCALCIURIA	CLCNKB SLC12A3	1188 6559	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050452	mevalonic aciduria Aliases: Mevalonate Kinase Deficiency	MVK	4598	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050453	lissencephaly	PAFAH1B1 POMGNT1 POMT1 POMT2 TUBA1A	10585 29954 5048 55624 7846	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050453	lissencephaly	Dg	36773	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0050453	lissencephaly	Dag1 Tuba1a	13138 22142	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050454	periventricular nodular heterotopia Aliases: periventricular heterotopia	ARFGEF2 FLNA MAP1B NEDD4L	10564 2316 23327 4131	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050456	Buruli ulcer disease Aliases: Bairnsdale ulcer Daintree ulcer Mossman ulcer Searl ulcer Searle's ulcer	SLC11A1	6556	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050457	Sertoli cell-only syndrome Aliases: DEL CASTILLO SYNDROME Germinal Cell Aplasia	Mast4	328329	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050458	juvenile myelomonocytic leukemia	Flt3 Kras Nf1 Ptpn11	14255 16653 18015 19247	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050458	juvenile myelomonocytic leukemia	AKAP12 ARHGAP26 CBL CSF2 JAK3 NF1 PTPN11	1437 23092 3718 4763 5781 867 9590	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050460	Wolf-Hirschhorn syndrome Aliases: 4p deletion syndrome PITT SYNDROME Pitt-Rogers-Danks Syndrome chromosome 4p16.3 deletion syndrome	Fgfrl1	116701	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050461	aspartylglucosaminuria Aliases: aspartylglucosaminidase deficiency aspartylglycosaminuria glycosylasparaginase deficiency	Aga	11593	Mus musculus (house mouse)	Alliance of Genome Resources

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