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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 **3926 - 3950** of **7942** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism
DOID:2529	splenic disease Aliases: Dyssplenism Spleen disease	CYP1A2 SMPD1	1544 6609	Homo sapiens (human)
DOID:2533	splenic infarction Aliases: Splenic infarct	CYP1A2 SMPD1	1544 6609	Homo sapiens (human)
DOID:6376	hypersplenism Aliases: hypersplenia	CYP1A2 SMPD1	1544 6609	Homo sapiens (human)
DOID:116	pericardium cancer Aliases: Pericardial tumor malignant neoplasm of pericardium malignant tumor of Pericardium	CYP1A2	1544	Homo sapiens (human)
DOID:0111529	familial multiple nevi flammei Aliases: CMC congenital capillary malformations familial multiple port-wine stains	CYP1B1 ICAM1 KLRB1 MAG PIK3CA PIK3CB PIK3CD PIK3CG	1545 3383 3820 4099 5290 5291 5293 5294	Homo sapiens (human)
DOID:0060605	obsolete anterior segment mesenchymal dysgenesis	CYP1B1	1545	Homo sapiens (human)
DOID:13098	central retinal artery occlusion	CYP1B1	1545	Homo sapiens (human)
DOID:0060648	anterior segment dysgenesis Aliases: anterior segment developmental anomaly corneal opacification and other ocular anomalies sclerocornea with other ocular anomalies	CYP1B1	1545	Homo sapiens (human)
DOID:8483	retinal artery occlusion	CYP1B1	1545	Homo sapiens (human)
DOID:0060291	oculodentodigital dysplasia Aliases: ODD syndrome	CYP1B1	1545	Homo sapiens (human)
DOID:13094	branch retinal artery occlusion Aliases: Arterial retinal branch occlusion retinal arterial branch occlusion	CYP1B1	1545	Homo sapiens (human)
DOID:0080611	anterior segment dysgenesis 6	CYP1B1	1545	Homo sapiens (human)
DOID:9271	ornithine carbamoyltransferase deficiency Aliases: deficiency of citrulline phosphorylase ornithine transcarbamylase deficiency	CYP21A2 GLUL	1589 2752	Homo sapiens (human)
DOID:0111416	trichohepatoenteric syndrome 2 Aliases: THES2	CYP21A2	1589	Homo sapiens (human)
DOID:14757	Ehlers-Danlos syndrome hypermobility type Aliases: Ehlers-Danlos syndrome, type 3 type III Ehlers-Danlos syndrome	CYP21A2	1589	Homo sapiens (human)
DOID:0050445	X-linked dominant hypophosphatemic rickets Aliases: Hypophosphatemia, Vitamin D-Resistant Rickets Vitamin D-Resistant Rickets, X-Linked X-linked hypophosphatemia hypophosphatemic rickets X-linked dominant	CYP24A1 CYP27B1 ENPP1 KL L1CAM SFTPA1 SLC2A2	1591 1594 3897 5167 6514 653509 9365	Homo sapiens (human)
DOID:0050860	colorectal adenoma	CYP24A1 GPX2 GPX3 PTGIS	1591 2877 2878 5740	Homo sapiens (human)
DOID:11684	melanoacanthoma	CYP24A1 HK2 INPP5A LGALS3 MMUT NTHL1 PIK3CA PIK3CB PIK3CD PIK3CG PLD2 PPT1 PTGS2 SDHD	1591 3099 3632 3958 4594 4913 5290 5291 5293 5294 5338 5538 5743 6392	Homo sapiens (human)
DOID:6945	inverted follicular keratosis Aliases: Inverted folicular keratosis	CYP24A1 HK2 INPP5A LGALS3 MMUT NTHL1 PIK3CA PIK3CB PIK3CD PIK3CG PLD2 PPT1 PTGS2 SDHD	1591 3099 3632 3958 4594 4913 5290 5291 5293 5294 5338 5538 5743 6392	Homo sapiens (human)
DOID:3713	ovary adenocarcinoma Aliases: Ovarian adenocarcinoma ovarian adenoacanthoma	CYP24A1 NEU1 NEU3 PTGS2 SMUG1	10825 1591 23583 4758 5743	Homo sapiens (human)
DOID:1602	lymphadenitis Aliases: Adenitis Inflammation of lymph node acute adenitis acute lymphadenitis chronic Lymphadenitis chronic adenitis	CYP24A1 NTM PTEN	1591 50863 5728	Homo sapiens (human)
DOID:0060699	familial hypocalciuric hypercalcemia Aliases: FBH FBHH FHH familial benign hypercalcemia familial benign hypocalciuric hypercalcemia	CYP24A1	1591	Homo sapiens (human)
DOID:0060702	familial hypocalciuric hypercalcemia 3 Aliases: FHH type 3 HHC3 familial hypocalciuric hypercalcemia type 3 hypocalciuric hypercalcemia type III	CYP24A1	1591	Homo sapiens (human)
DOID:0060701	familial hypocalciuric hypercalcemia 2 Aliases: FHH type 2 HHC2 familial hypocalciuric hypercalcemia type 2 hypocalciuric hypercalcemia type II	CYP24A1	1591	Homo sapiens (human)
DOID:0060281	photosensitive epilepsy Aliases: photogenic epilepsy photoparoxysmal response	CYP27A1 DHCR7 EPM2A FDPS KDSR	1593 1717 2224 2531 7957	Homo sapiens (human)

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