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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 **2076 - 2100** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism
DOID:0112248	17-beta hydroxysteroid dehydrogenase 3 deficiency Aliases: 17-KSR deficiency 17-beta-hydroxysteroid dehydrogenase 3 deficiency 17-ketoreductase deficiency 17-ketosteroidreductase deficiency 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency male pseudohermaphroditism with gynecomastia neutral 17-beta-hydroxysteroid oxidoreductase deficiency	HSD17B3	3293	Homo sapiens (human)
DOID:2997	Sertoli-Leydig cell tumor	HSD17B1 LGALS3	3292 3958	Homo sapiens (human)
DOID:14735	hereditary angioedema Aliases: HANE Hereditary angioneurotic edema	Hs3st-B	32918	Drosophila melanogaster (fruit fly)
DOID:1324	lung cancer	Axn Calr Hs3st-B	32918 41166 43565	Drosophila melanogaster (fruit fly)
DOID:0050696	fetal alcohol spectrum disorder	HSD11B2 PTEN	3291 5728	Homo sapiens (human)
DOID:0090140	cortisone reductase deficiency 2 Aliases: CORTRD2	HSD11B1	3290	Homo sapiens (human)
DOID:106	pleural tuberculosis Aliases: Pearly disease Tuberculosis of pleura Tuberculous pleurisy Tuberculous pleuritis tuberculous pleurisy in primary progressive tuberculosis	BST1 HSD11B1 TLR4 VTCN1	3290 683 7099 79679	Homo sapiens (human)
DOID:5715	functionless pituitary adenoma Aliases: Non-Functioning neoplasm of the Pituitary Non-Secretory adenoma of the Pituitary gland	HSD11B1 PIK3CA PIK3CB PIK3CD PIK3CG QTRT1	3290 5290 5291 5293 5294 81890	Homo sapiens (human)
DOID:4367	apparent mineralocorticoid excess syndrome Aliases: 11-beta-hydroxysteroid dehydrogenase deficiency type 2 Ulick syndrome cortisol 11-beta-ketoreductase deficiency syndrome of apparent mineralocorticoid excess	CHST3 HSD11B1 HSD11B2 PIK3CA	3290 3291 5290 9469	Homo sapiens (human)
DOID:0111156	spermatogenic failure 9 Aliases: globozoospermia male infertility due to round-headed spermatozoa	CG6659	32854	Drosophila melanogaster (fruit fly)
DOID:4085	trophoblastic neoplasm Aliases: Trophoblastic tumor	HSD3B1 LGALS1	3283 3956	Homo sapiens (human)
DOID:0050770	polycystic liver disease Aliases: congenital cystic liver disease congenital hepatic cyst fibrocystic liver disease	alg8	327601	Danio rerio (zebrafish)
DOID:0080560	congenital disorder of glycosylation Ih Aliases: congenital disorder of glycosylation 1h	alg8	327601	Danio rerio (zebrafish)
DOID:0050570	congenital disorder of glycosylation type I	alg12 alg1 alg6 alg8 alg9 dpm1	327601 334161 393598 445202 445327 569494	Danio rerio (zebrafish)
DOID:1574	alcohol use disorder Aliases: Ethanol abuse alcohol abuse	ppp1r3b ppp1r3cb st6gal1	327285 393807 445376	Danio rerio (zebrafish)
DOID:0080507	Cornelia de Lange syndrome 3 Aliases: CDLS3 Cornelia De Lange syndrome 3 with or without midline brain defects	SMC3	32627	Drosophila melanogaster (fruit fly)
DOID:11725	Cornelia de Lange syndrome Aliases: Brachmann de Lange syndrome De Lange syndrome	SMC3	32627	Drosophila melanogaster (fruit fly)
DOID:1059	intellectual disability	Pgi SMC3 sfl teq	32627 35886 38736 39048	Drosophila melanogaster (fruit fly)
DOID:684	hepatocellular carcinoma Aliases: Hepatoma	Ald1 Aprt Axn Calr Lerp Plod Prat SMC3 Tl Zw dally dlp	32627 32974 39013 39265 39596 40935 41166 43183 43222 43223 43565 48224	Drosophila melanogaster (fruit fly)
DOID:0050563	nonsyndromic deafness Aliases: nonsyndromic hearing loss nonsyndromic hereditary hearing loss	Alg10	326193	Drosophila melanogaster (fruit fly)
DOID:0110645	long QT syndrome 2 Aliases: LQT2	Alg10	326193	Drosophila melanogaster (fruit fly)
DOID:4079	heart valve disease Aliases: Valvular heart disease	Pgant5	326151	Drosophila melanogaster (fruit fly)
DOID:0080762	autosomal recessive limb-girdle muscular dystrophy type 2Z Aliases: limb-girdle muscular dystrophy 21	CG31139 rumi	326122 42698	Drosophila melanogaster (fruit fly)
DOID:0060256	Dowling-Degos disease Aliases: dark dot disease reticular pigment anomaly of flexures	CG31139 O-fut1 rumi	326122 36564 42698	Drosophila melanogaster (fruit fly)
DOID:0050827	rheumatic heart disease Aliases: rheumatic carditis	Gapdh1 Gapdh2	32545 35728	Drosophila melanogaster (fruit fly)

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