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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **5676 - 5700** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:14735	hereditary angioedema Aliases: HANE Hereditary angioneurotic edema	Hs3st-B Spn28Dc sca	32918 34091 36411	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
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	HSD11B2	3291	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060752	familial temporal lobe epilepsy 5 Aliases: ETL5	Cpa6	329093	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111308	familial febrile seizures 11 Aliases: FEB11 familial febrile convulsions 11	Cpa6	329093	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090140	cortisone reductase deficiency 2 Aliases: CORTRD2	HSD11B1	3290	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090139	cortisone reductase deficiency Aliases: CORTRD	H6PD HSD11B1	3290 9563	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080105	microcephaly and chorioretinopathy 1	Tubgcp6	328580	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1933	Rubinstein-Taybi syndrome Aliases: Broad Thumb-Hallux syndrome Rubinstein syndrome proximal chromosome 16p13.3 deletion syndrome	Ep300	328572	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111156	spermatogenic failure 9 Aliases: globozoospermia male infertility due to round-headed spermatozoa	CG6659	32854	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060254	Robinow syndrome Aliases: Robinow dwarfism acral dysostosis with facial and genital abnormalities fetal face syndrome	Wnt5	32838	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060766	autosomal dominant Robinow syndrome 1 Aliases: DRS1	Wnt5	32838	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:127	leiomyoma Aliases: leiomyomatous neoplasm leiomyomatous tumor	Parp1 Wnt2 Wnt5 enok fz	32838 3355109 35975 37859 45307	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:3620	central nervous system cancer Aliases: CNS neoplasm central nervous system tumor central nervous system tumors malignant neoplasm of central nervous system malignant tumor of CNS neoplasm of central nervous system	HES1 NOTCH1 NOTCH2 NOTCH3 XRCC1	3280 4851 4853 4854 7515	Homo sapiens (human)	Alliance of Genome Resources
DOID:3426	vestibular disease Aliases: Vertigo, vestibular disorder	Sh	32780	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080416	developmental and epileptic encephalopathy 32 Aliases: DEE32 early infantile epileptic encephalopathy 32	Sh	32780	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0050989	episodic ataxia type 1	Sh	32780	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:6432	pulmonary hypertension	Ance-3 Cad96Ca Calx Col4a1 Egfr Glut1 Hex-t2 Hmgcr Nep3 SerT Sh Spn28Dc TkR86C TkR99D htl tor vkg	32780 33005 33726 33727 34091 34808 35717 37455 37895 38109 41286 42160 42481 42803 43026 43191 43551	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:381	arthropathy Aliases: Ankylosis of joint of ankle and/or foot Ankylosis of joint of forearm Ankylosis of joint of hand Ankylosis of joint of lower leg Ankylosis of joint of upper arm Ankylosis of multiple joints Infectious arthropathy Joint ankylosis of the ankle and foot Joint ankylosis of the ankle and/or foot Joint ankylosis of the forearm Joint ankylosis of the hand Joint ankylosis of the lower leg Joint ankylosis of the pelvic region and thigh Joint ankylosis of the shoulder region Joint ankylosis of the upper arm ankylosis of ankle and foot joint ankylosis of forearm joint ankylosis of hand joint ankylosis of joint of multiple sites ankylosis of joint of pelvic region and thigh ankylosis of joint of shoulder region ankylosis of lower leg joint ankylosis of upper arm joint	Ccn6	327743	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090004	progressive pseudorheumatoid arthropathy of childhood Aliases: spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome	Ccn6	327743	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4680	breast metaplastic carcinoma Aliases: Metaplastic carcinoma of the breast	Ccn6	327743	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070037	autosomal dominant intellectual developmental disorder 7 Aliases: DYRK1A syndrome MRD7 autosomal dominant mental retardation 7 autosomal dominant non-syndromic intellectual disability 7	mnb	32771	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060612	abdominal obesity-metabolic syndrome 3	mnb	32771	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:1591	renovascular hypertension	Acer Ance Octbeta2R Pxn Zw mnb	32771 32974 34189 34805 38326 41549	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:9279	hyperhomocysteinemia	Ace Atpalpha GluRIA Nep3 Zw mnb	32771 32974 33005 38742 41625 48971	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080560	congenital disorder of glycosylation Ih Aliases: congenital disorder of glycosylation 1h	alg8	327601	Danio rerio (zebrafish)	Alliance of Genome Resources

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