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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 **7201 - 7225** of **7942** in total

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Disease ID ▼	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0060306	Meier-Gorlin syndrome Aliases: ear-patella-short stature syndrome	ACHE CLEC7A COMT CYP4F3 FASN LYZ PIK3CA PIK3CG PLA2G4A PLCB1	1312 2194 23236 4051 4069 43 5290 5294 5321 64581	Homo sapiens (human)
DOID:0060305	megalocornea Aliases: anterior megalophthalmos congenital anterior megalophthalmia	FKRP FKTN GMPPB GNPTAB LARGE1 POMGNT1 POMK POMT1 POMT2 SLC2A10	10585 2218 29925 29954 55624 79147 79158 81031 84197 9215	Homo sapiens (human)
DOID:0060303	complement component 9 deficiency	ACE CALR CD55 FCN3 MASP2	10747 1604 1636 811 8547	Homo sapiens (human)
DOID:0060302	type II complement component 8 deficiency	ACE CALR CD55 FCN3 MASP2	10747 1604 1636 811 8547	Homo sapiens (human)
DOID:0060301	type I complement component 8 deficiency	ACE CALR CD55 FCN3 MASP2	10747 1604 1636 811 8547	Homo sapiens (human)
DOID:0060300	complement component 7 deficiency	ACE CALR CD55 FCN3 MASP2	10747 1604 1636 811 8547	Homo sapiens (human)
DOID:0060299	complement component 6 deficiency	ACE CALR CD55 FCN3 MASP2	10747 1604 1636 811 8547	Homo sapiens (human)
DOID:0060298	complement component 4b deficiency	ACE CALR CD55 FCN3 MASP2	10747 1604 1636 811 8547	Homo sapiens (human)
DOID:0060297	complement component 4a deficiency	ACE CALR CD55 FCN3 MASP2	10747 1604 1636 811 8547	Homo sapiens (human)
DOID:0060295	complement component 2 deficiency	ACADVL ACE CALR CD55 CYP21A2 FCN3 MASP2 MBL2 OTOA	10747 146183 1589 1604 1636 37 4153 811 8547	Homo sapiens (human)
DOID:0060294	cold-induced sweating syndrome Aliases: Crisponi syndrome Sohar-Crisponi syndrome	CNTFR	1271	Homo sapiens (human)
DOID:0060293	autosomal dominant chondrodysplasia punctata	AGPS ARSH DHCR24 EBP GNPAT NSDHL STS SUMF1	10682 1718 285362 347527 412 50814 8443 8540	Homo sapiens (human)
DOID:0060292	X-linked chondrodysplasia punctata 1 Aliases: chondrodystrophia calcificans congenita	AGPS ARSH DHCR24 EBP FDFT1 GNPAT NSDHL STS SUMF1	10682 1718 2222 285362 347527 412 50814 8443 8540	Homo sapiens (human)
DOID:0060291	oculodentodigital dysplasia Aliases: ODD syndrome	CYP1B1	1545	Homo sapiens (human)
DOID:0060288	omodysplasia	CD44 GPC6	10082 960	Homo sapiens (human)
DOID:0060287	cornea plana Aliases: flat cornea	B3GALNT2 B3GLCT B4GAT1 CHST14 CRPPA CYP1B1 DAG1 DCN EBP FKRP FKTN HSPG2 LARGE1 POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1 SC5D SMC3	10329 10585 10682 11041 113189 145173 148789 1545 1605 1634 2218 29954 3339 55624 6309 729920 79147 84197 84892 9126 9215	Homo sapiens (human)
DOID:0060285	parietal foramina Aliases: Caitlin marks enlarged parietal foramina hereditary cranium bifidum	CAT EXT2 QTRT1 UGT8	2132 7368 81890 847	Homo sapiens (human)
DOID:0060284	paroxysmal nocturnal hemoglobinuria	piga	100158632	Xenopus tropicalis (tropical clawed frog)
DOID:0060284	paroxysmal nocturnal hemoglobinuria	piga	791759	Danio rerio (zebrafish)
DOID:0060284	paroxysmal nocturnal hemoglobinuria	piga.L	108707921	Xenopus laevis (African clawed frog)
DOID:0060284	paroxysmal nocturnal hemoglobinuria	piga-1	174386	Caenorhabditis elegans
DOID:0060284	paroxysmal nocturnal hemoglobinuria	PIG-A	37020	Drosophila melanogaster (fruit fly)
DOID:0060284	paroxysmal nocturnal hemoglobinuria	Piga	18700	Mus musculus (house mouse)
DOID:0060284	paroxysmal nocturnal hemoglobinuria	Piga	363464	Rattus norvegicus (Norway rat)
DOID:0060284	paroxysmal nocturnal hemoglobinuria	BST1 CD14 CD1D CD38 CD48 CD55 CRLS1 ECI2 FCGR3B FUT1 FUT4 G6PD GPI HACD1 HPRT1 IDH1 KLRK1 PGAP1 PIGA PIGF PIGM PIGT PLAUR PRNP SELL	10455 1604 2215 22914 2523 2526 2539 2821 3251 3417 51604 5277 5281 5329 54675 5621 6402 683 80055 912 9200 929 93183 952 962	Homo sapiens (human)

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