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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 **3151 - 3175** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism
DOID:0060605	obsolete anterior segment mesenchymal dysgenesis	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: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:13098	central retinal artery occlusion	CYP1B1	1545	Homo sapiens (human)
DOID:4947	cholangiocarcinoma Aliases: adult primary Cholangiocarcinoma adult primary cholangiocellular carcinoma cholangiosarcoma	Ins1 Ins2 Ogg1 Ugt1a7c Ugt1a8 Ugt1a9	154516 24505 24506 301595 396552 81528	Rattus norvegicus (Norway rat)
DOID:4988	alcoholic pancreatitis	Ugt1a7c Ugt1a8	154516 301595	Rattus norvegicus (Norway rat)
DOID:1919	Lesch-Nyhan syndrome Aliases: Complete hypoxanthine-guanine phosphoribosyltransferase deficiency HG-PRT deficiency Hypoxanthine-guanine phosphoribosyltransferase deficiency Hypoxanthine-guanine-phosphoribosyltransferase deficiency Lesch - Nyhan syndrome X-linked hyperuricemia deficiency of IMP pyrophosphorylase hypoxanthine guanine phosphoribosyltransferase deficiency	Hprt1	15452	Mus musculus (house mouse)
DOID:0112127	HRPT-related hyperuricemia Aliases: HPRT deficiency, grade I HPRT partial deficiency HPRT-related gout HPRT-related hyperuricemia HPRT1 partial deficiency Kelley-Seegmiller syndrome hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency hypoxanthine guanine phosphoribosyltransferase deficiency, grade I hypoxanthine guanine phosphoribosyltransferase partial deficiency	Hprt1	15452	Mus musculus (house mouse)
DOID:13189	gout Aliases: Articular gout Gouty arthropathy gouty arthritis	ADRB3 ALOX5 BCKDHA CD14 CNTN5 CYP2C8 CYP2E1 CYP4F3 G6PC1 HPRT1 IL1R1 INPP5D MACROD1 PFKM PKD2 PRPS1 PYGM SLC37A4 TPST1 UMOD	155 1558 1571 240 2538 2542 28992 3251 3554 3635 4051 5213 5311 53942 5631 5837 593 7369 8460 929	Homo sapiens (human)
DOID:3827	congenital diaphragmatic hernia Aliases: Diaphragmatic Hernia	Htr2a Igf2 Ndst1 Tnf	15531 15558 16002 21926	Mus musculus (house mouse)
DOID:14227	azoospermia	Ndst1 Ndst2 Ndst3 Ndst4	15531 17423 64580 83398	Mus musculus (house mouse)
DOID:12716	newborn respiratory distress syndrome Aliases: HMD - Hyaline membrane disease Neonatal respiratory Distress syndrome hyaline membrane disease pulmonary hyaline membrane disease pulmonary hypoperfusion syndrome of newborn respiratory distress syndrome of newborn	Ndst1	15531	Mus musculus (house mouse)
DOID:0081210	autosomal recessive intellectual developmental disorder 46	Ndst1	15531	Mus musculus (house mouse)
DOID:11198	DiGeorge syndrome Aliases: 22q11.2 deletion syndrome DiGeorge sequence DiGeorge's syndrome Pharyngeal pouch syndrome	Ndst1	15531	Mus musculus (house mouse)
DOID:3010	lobular neoplasia Aliases: Lobular Intraepithelial Neoplasia lobular carcinoma in situ	CYP2B6 CYP2C19 EPHX2 FUCA1 HPRT1 PTGS2 SMUG1	1555 1557 2053 23583 2517 3251 5743	Homo sapiens (human)
DOID:3052	Balkan nephropathy Aliases: Balkan endemic nephropathy DEFN Danubian endemic familial nephropathy	CYP2B6 CYP3A5 HSPG2 IL1R1 LIPA	1555 1577 3339 3554 3988	Homo sapiens (human)
DOID:1876	sexual dysfunction	ACE ALDH7A1 CYP19A1 CYP2B6 MDGA2 PGP	1555 1588 161357 1636 283871 501	Homo sapiens (human)
DOID:0050471	Carney complex Aliases: Carney Complex, Type 1 Carney Complex, Type 2 Carney Syndrome Carney complex variant LAMB Syndrome NAME Syndrome	APRT CAT CYP19A1 CYP2B6 PTEN SDHC UGT1A1	1555 1588 353 54658 5728 6391 847	Homo sapiens (human)
DOID:192	sex cord-gonadal stromal tumor Aliases: Sex Cord-Stromal neoplasm Sex cord stromal tumour Specialized gonadal neoplasm Specialized gonadal tumor Specialized gonadal tumour sex cord-gonadal stromal tumour	CYP19A1 CYP2B6 LGALS3	1555 1588 3958	Homo sapiens (human)
DOID:0080369	ovarian sex-cord stromal tumor	CYP19A1 CYP2B6	1555 1588	Homo sapiens (human)
DOID:450	myotonic disease	ALPP ATRNL1 CYP2B6 HSPG2 IDS MRC1 MTM1 PGD PLCB1 PRKAA2 PRNP SLC35G1 ST8SIA4 UGT8	1555 159371 23236 250 26033 3339 3423 4360 4534 5226 5563 5621 7368 7903	Homo sapiens (human)
DOID:8506	bullous pemphigoid	CD22 CD55 CYP2B6 GLB1 HSD17B6 ICAM1 MRC1 PKD1 SELE SELL SOAT1 VCAM1	1555 1604 2720 3383 4360 5310 6401 6402 6646 7412 8630 933	Homo sapiens (human)
DOID:2741	bilirubin metabolic disorder Aliases: hereditary hyperbilirubinemia hyperbilirubinemia	ABO AKR1D1 ALDOB AMACR COG6 CYP2B6 ENO2 FH G6PD HK1 HSD3B7 LPL NT5E PGK1 PRKAA2 SELP SLC17A5 SLC35A2 UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9 UMPS XYLT2	1555 2026 2271 229 23600 2539 26503 28 3098 4023 4907 5230 54575 54576 54577 54578 54579 54600 54657 54658 54659 5563 56886 57511 6403 64132 6718 7355 7372 80270	Homo sapiens (human)

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