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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 **2551 - 2575** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism
DOID:0060405	chromosome 17q23.1-q23.2 deletion syndrome Aliases: 17q23.1-q23.2 microdeletion syndrome 17q23.1q23.2 microdeletion syndrome	CYP11A1 FREM1 PAFAH1B1 PRNP	1583 158326 5048 5621	Homo sapiens (human)
DOID:0060411	chromosome 1q21.1 deletion syndrome Aliases: 1q21.1 microdeletion syndrome	CYP11A1 FREM1 PAFAH1B1 PRNP	1583 158326 5048 5621	Homo sapiens (human)
DOID:0060422	chromosome 6pter-p24 deletion syndrome Aliases: 6p subtelomeric deletion syndrome 6p25 microdeletion syndrome distal monosomy 6p	CYP11A1 FREM1 PAFAH1B1 PRNP	1583 158326 5048 5621	Homo sapiens (human)
DOID:0060404	chromosome 17q12 deletion syndrome Aliases: 17q12 microdeletion syndrome	CYP11A1 FREM1 PAFAH1B1 PRNP	1583 158326 5048 5621	Homo sapiens (human)
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	CYP11A1 FREM1 PAFAH1B1 PRNP	1583 158326 5048 5621	Homo sapiens (human)
DOID:0060400	chromosome 16p12.2-p11.2 deletion syndrome Aliases: 16p11.2-p12.2 microdeletion syndrome 16p11.2p12.2 microdeletion syndrome	CYP11A1 FREM1 PAFAH1B1 PRNP	1583 158326 5048 5621	Homo sapiens (human)
DOID:0060391	chromosome 13q14 deletion syndrome Aliases: deletion 13q14	CYP11A1 FREM1 PAFAH1B1 PRNP	1583 158326 5048 5621	Homo sapiens (human)
DOID:0060397	chromosome 15q26-qter deletion syndrome Aliases: 15q26 deletion syndrome Drayer syndrome distal 15q deletion syndrome distal monosomy 15q telomeric 15q deletion syndrome	CYP11A1 FREM1 PAFAH1B1 PRNP	1583 158326 5048 5621	Homo sapiens (human)
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	CYP11A1 FREM1 PAFAH1B1 PRNP	1583 158326 5048 5621	Homo sapiens (human)
DOID:0060398	chromosome 16p11.2 deletion syndrome, 220-kb Aliases: distal 16p11.2 microdeletion syndrome	CYP11A1 FREM1 PAFAH1B1 PRNP	1583 158326 5048 5621	Homo sapiens (human)
DOID:0060394	chromosome 15q13.3 microdeletion syndrome Aliases: 15q13.3 microdeletion syndrome	CYP11A1 FREM1 PAFAH1B1 PRNP	1583 158326 5048 5621	Homo sapiens (human)
DOID:0060425	chromosome 8q21.11 deletion syndrome Aliases: 8q21.11 microdeletion syndrome	CYP11A1 FREM1 PAFAH1B1 PRNP	1583 158326 5048 5621	Homo sapiens (human)
DOID:12528	lesion of sciatic nerve	CAT CYP11A1 CYP17A1 GFRA1 HSD3B1 ICAM1 MAG RGMA	1583 1586 2674 3283 3383 4099 56963 847	Homo sapiens (human)
DOID:8536	herpes zoster Aliases: Shingles herpes zona	ARSA CYP11A1 CYP17A1 ENOSF1 GP2 TECTA TNF	1583 1586 2813 410 55556 7007 7124	Homo sapiens (human)
DOID:3463	breast disease	CYP11A1 CYP17A1 HSD17B1 PTEN PTGES	1583 1586 3292 5728 9536	Homo sapiens (human)
DOID:10686	lactocele Aliases: Galactocele	CYP11A1 CYP17A1 HSD17B1 PTEN PTGES	1583 1586 3292 5728 9536	Homo sapiens (human)
DOID:5425	ovarian hyperstimulation syndrome Aliases: secondary Meig's syndrome	CD44 CHST3 CYP11A1 CYP19A1 LPL PTGS2	1583 1588 4023 5743 9469 960	Homo sapiens (human)
DOID:0050546	congenital adrenal insufficiency Aliases: ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE Adrenal insufficiency, congenital, with 46,XY sex reversal P450scc DEFICIENCY	CYP11A1	1583	Homo sapiens (human)
DOID:12594	Potter's syndrome Aliases: Potter sequence Potter syndrome	ACE DHCR24 DHCR7 FREM1 GAS1 GGT1 HS6ST1 NSDHL	158326 1636 1717 1718 2619 2678 50814 9394	Homo sapiens (human)
DOID:0080200	bilateral renal aplasia	DHCR24 DHCR7 FREM1 GAS1 HS6ST1 NSDHL	158326 1717 1718 2619 50814 9394	Homo sapiens (human)
DOID:0111405	Fraser syndrome 1 Aliases: FRASRS1	FREM1 NT5E	158326 4907	Homo sapiens (human)
DOID:9307	rectal prolapse Aliases: Procidentia, rectum	FREM1 PTEN	158326 5728	Homo sapiens (human)
DOID:0050477	Liddle syndrome Aliases: Liddle's syndrome Pseudoaldosteronism	CYP11B1 CYP11B2 CYP17A1 HSD11B2 PTGS2	1584 1585 1586 3291 5743	Homo sapiens (human)
DOID:820	myocarditis Aliases: Myocardial inflammation	ACE ARSB CA4 CYP11B1 CYP11B2 DCN FCN2 FKTN FUT4 GPX1 ICAM1 IDS ISYNA1 KLRB1 KLRK1 LGALS3 LGALS9 NCAM1 PTGS2 SLC17A5 SLC2A10 SMUG1	1584 1585 1634 1636 2218 2220 22914 23583 2526 26503 2876 3383 3423 3820 3958 3965 411 4684 51477 5743 762 81031	Homo sapiens (human)
DOID:0050891	adrenal cortical adenoma Aliases: adrenocortical adenoma	CYP11B1 CYP11B2	1584 1585	Homo sapiens (human)

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