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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 **1976 - 2000** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism
DOID:0060700	familial hypocalciuric hypercalcemia 1 Aliases: FHH type 1 HHC1 familial benign hypercalcemia 1 familial hypocalciuric hypercalcemia type I hypocalciuric hypercalcemia type I	ALPP ATRNL1 CYP24A1 PTGS2	1591 250 26033 5743	Homo sapiens (human)
DOID:2347	generalized atherosclerosis Aliases: Generalised atherosclerosis	ABO ACE ACSM3 ARSA ATP6V0A2 CYP24A1 DGAT2 GPX3 HPGDS OLR1 PLA2G7 RENBP SELE	1591 1636 23545 27306 28 2878 410 4973 5973 6296 6401 7941 84649	Homo sapiens (human)
DOID:10983	Alport syndrome Aliases: Hereditary Nephritis	ACE ACSL4 B3GAT1 CYP24A1	1591 1636 2182 27087	Homo sapiens (human)
DOID:1752	ocular melanoma Aliases: eye melanoma intraocular melanoma melanoma of eye	ASAH1 CD177 CYP24A1 CYP27B1 PNPLA2 SDHD	1591 1594 427 57104 57126 6392	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: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:9271	ornithine carbamoyltransferase deficiency Aliases: deficiency of citrulline phosphorylase ornithine transcarbamylase deficiency	CYP21A2 GLUL	1589 2752	Homo sapiens (human)
DOID:9663	aphthous stomatitis Aliases: Aphtha Aphthous ulceration Canker sore Oral aphthae oral ulcer	CAT CYP21A2 ENO1 GTDC1 LGALS1 LYZ SLC37A4 VCAM1	1589 2023 2542 3956 4069 7412 79712 847	Homo sapiens (human)
DOID:11701	selective IgA deficiency disease Aliases: Immunoglobulin A deficiency Selective immunoglobulin A deficiency selective IgA immunodeficiency	AGA CLEC16A CYP21A2 FUT2 FUT3 MBL2 PTEN SDC1	1589 175 23274 2524 2525 4153 5728 6382	Homo sapiens (human)
DOID:0060025	immunoglobulin alpha deficiency Aliases: IgA deficiency gamma-A-globulin deficiency	AGA CLEC16A CYP21A2 FUT2 FUT3 MBL2 PTEN SDC1	1589 175 23274 2524 2525 4153 5728 6382	Homo sapiens (human)
DOID:0060851	pemphigus vulgaris Aliases: familial pemphigus vulgaris	ACE CYP21A2 FCN2 MBL2 MRC1	1589 1636 2220 4153 4360	Homo sapiens (human)
DOID:9182	pemphigus	ACE CAT CD1D CYP21A2 FCN2 MBL2 MRC1	1589 1636 2220 4153 4360 847 912	Homo sapiens (human)
DOID:12554	hemolytic-uremic syndrome Aliases: haemolytic-uraemic syndrome hemolytic uremic syndrome	A4GALT ABO BAAT C1GALT1C1 CAT CD22 CLEC1B CYP21A2 DGKE G6PD GPI GRHPR IL1RL1 LIPG MASP1 MBL2 PIGA PLA2G7 SLC35G1 ST8SIA2 TM7SF2	1589 159371 2539 28 2821 29071 4153 51266 5277 53947 5648 570 7108 7941 8128 847 8526 9173 933 9380 9388	Homo sapiens (human)
DOID:0080011	bone resorption disease	CYP19A1	1588	Homo sapiens (human)
DOID:11968	postmenopausal atrophic vaginitis Aliases: Senile vaginitis atrophic vaginitis	CYP19A1	1588	Homo sapiens (human)
DOID:5728	diffuse peritoneal leiomyomatosis Aliases: leiomyomatosis peritonealis disseminata	CYP19A1	1588	Homo sapiens (human)
DOID:0060567	erythema elevatum diutinum	CYP19A1	1588	Homo sapiens (human)
DOID:14336	estrogen excess Aliases: hyperestrogenism	CYP19A1	1588	Homo sapiens (human)
DOID:5166	endometrial stromal tumor Aliases: endometrial Stromal neoplasm	CYP19A1	1588	Homo sapiens (human)
DOID:3603	mucinous cystadenocarcinoma Aliases: Pseudomucinous cystadenocarcinoma	CYP19A1	1588	Homo sapiens (human)
DOID:2518	orchitis Aliases: Inflammation of testis Orchititis	CYP19A1	1588	Homo sapiens (human)
DOID:3781	anovulation	CYP19A1 PAPSS2	1588 9060	Homo sapiens (human)
DOID:14039	POEMS syndrome	CYP19A1 SDC1	1588 6382	Homo sapiens (human)
DOID:9042	polyp of corpus uteri Aliases: endometrial/uterine polyp polyp of Endometrium polyp of the Uterus polyp, uterus	CYP19A1 PTEN PTGS2 SDC1	1588 5728 5743 6382	Homo sapiens (human)

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