GlyCosmos Portal

Table Filtering

Disease ID

Disease Name

Gene Symbol

Gene ID

Organism

Source

Display
results per page.

Clear

Submissions

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	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **451 - 475** of **4649** in total

« First

‹ Prev

…

15

16

17

18

19

20

21

22

23

…

Next ›

Last »
Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▲
DOID:0060374	orofaciodigital syndrome IV Aliases: Baraitser-Burn syndrome OFD4	TCTN3	26123	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060386	Chilblain lupus	SAMHD1	25939	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060387	chondrodysplasia Blomstrand type Aliases: Blomstrand lethal chondrodysplasia	PTH1R	5745	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060389	chromosome 10q23 deletion syndrome	BMPR1A	657	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060393	chromosome 15q11.2 deletion syndrome Aliases: 15q11.2 microdeletion syndrome	CYFIP1 CYFIP2 UBE3A	23191 26999 7337	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060394	chromosome 15q13.3 microdeletion syndrome Aliases: 15q13.3 microdeletion syndrome	OTUD7A TRPM1 TRPM3 TRPM6	140803 161725 4308 80036	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060395	chromosome 15q24 deletion syndrome Aliases: 15q24 microdeletion syndrome	SIN3A	25942	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060398	chromosome 16p11.2 deletion syndrome, 220-kb Aliases: distal 16p11.2 microdeletion syndrome	SH2B1	25970	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060399	chromosome 16p12.1 deletion syndrome	MOSMO POLR3E UQCRC2	55718 730094 7385	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060404	chromosome 17q12 deletion syndrome Aliases: 17q12 microdeletion syndrome	AATF ACACA ACACB DUSP14	11072 26574 31 32	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060409	NFIA-related disorder Aliases: 1p31p32 microdeletion syndrome Chromosome 1, Monosomy 1p32 brain malformations with or without urinary tract defects chromosome 1p32-p31 deletion syndrome	NFIA	4774	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060410	chromosome 1p36 deletion syndrome Aliases: 1p36 deletion syndrome deletion 1p36 monosomy 1p36	CASZ1 KCNAB2	54897 8514	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060411	chromosome 1q21.1 deletion syndrome Aliases: 1q21.1 microdeletion syndrome	BCL9 BCL9L	283149 607	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060412	chromosome 1q41-q42 deletion syndrome Aliases: 1q41-q42 microdeletion syndrome 1q41q42 microdeletion syndrome	TP53BP2	7159	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060413	chromosome 22q11.2 deletion syndrome, distal Aliases: DiGeorge syndrome and Velocardiofacial syndrome distal 22q11.2 microdeletion syndrome	HIRA MED15 PI4KA PRODH2 SNAP29	51586 5297 58510 7290 9342	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060419	chromosome 3q29 microdeletion syndrome Aliases: 3q subtelomere deletion syndrome 3q29 microdeletion syndrome 3q29 recurrent deletion 3qter deletion	BDH1 DLG1 HSD17B6 LTF MELTF SDR9C7 SLC51A TF	121214 1739 200931 4057 4241 622 7018 8630	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060428	SATB2-associated syndrome Aliases: 2q32-q33 microdeletion syndrome 2q32q33 microdeletion syndrome Glass syndrome chromosome 2q32-q33 deletion syndrome monosomy 2q32 monosomy 2q32-q33 monosomy 2q32q33	SATB2	23314	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060438	Cole-Carpenter syndrome	P4HB SEC24D	5034 9871	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060439	lysinuric protein intolerance Aliases: LPI dibasic amino aciduria II hyperdibasic aminoaciduria	SLC7A7	9056	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060444	granular corneal dystrophy 2 Aliases: CGD2 avellino corneal dystrophy combined granular-lattice corneal dystrophy corneal dystrophy, Avellino type granular corneal dystrophy type 2	TGFBI	7045	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060445	congenital stromal corneal dystrophy Aliases: CSCD congenital hereditary stromal dystrophy	DCN	1634	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060447	epithelial basement membrane dystrophy Aliases: Cogan corneal dystrophy EBMD microcystic corneal dystrophy	TGFBI	7045	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060448	Fleck corneal dystrophy Aliases: FCD Francois-Neetens speckled corneal dystrophy	PIKFYVE	200576	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060449	gelatinous drop-like corneal dystrophy Aliases: GDCD corneal amyloidosis primary familial amyloidosis of the cornea subepithelial amyloidosis of the cornea	CLU TACSTD2	1191 4070	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060450	Lisch epithelial corneal dystrophy Aliases: LECD band-shaped and whorled microcystic	MCOLN1	57192	Homo sapiens (human)	Alliance of Genome Resources

Download data in CSV format Download data in TSV format Download data in JSON format

Table Filtering

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

Tools

Search Tools

International Collaboration

Acknowledgements