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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	January 28, 2025
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **4251 - 4275** of **5716** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▲
DOID:14566	disease of cellular proliferation Aliases: cell process disease neoplasm	Tp53	24842	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:1459	hypothyroidism Aliases: Thyroid deficiency Thyroid insufficiency	Col2a1 Cs	170587 25412	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:1459	hypothyroidism Aliases: Thyroid deficiency Thyroid insufficiency	HLA-DQB1 HLA-DRB1 TSHB	3119 3123 7252	Homo sapiens (human)	Alliance of Genome Resources
DOID:14654	prostatitis	CYP19A1	1588	Homo sapiens (human)	Alliance of Genome Resources
DOID:14669	acrodysostosis	PRKAR1A	5573	Homo sapiens (human)	Alliance of Genome Resources
DOID:14671	multiple intestinal atresia Aliases: GIDID Multiple gastrointestinal atresias familial intestinal polyatresia syndrome gastrointestinal defects and immunodeficiency syndrome	TTC7A	57217	Homo sapiens (human)	Alliance of Genome Resources
DOID:14679	VACTERL association	Dync2h1 Pcsk5 Qsox1	104009 110350 18552	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14681	Silver-Russell syndrome Aliases: Silver Russell Dwarfism	HMGA2 IGF2	3481 8091	Homo sapiens (human)	Alliance of Genome Resources
DOID:14686	Axenfeld-Rieger syndrome Aliases: Anomaly, Rieger's Axenfeld syndrome RGS - Rieger syndrome Rieger's anomaly	FOXC1 PITX2	2296 5308	Homo sapiens (human)	Alliance of Genome Resources
DOID:14687	diastrophic dysplasia	Slc26a2	13521	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14692	Smith-Lemli-Opitz syndrome Aliases: Rutledge lethal multiple congenital anomaly syndrome Smith-Opitz-Inborn syndrome	DHCR7	1717	Homo sapiens (human)	Alliance of Genome Resources
DOID:14693	Clouston syndrome Aliases: Clouston's hidrotic ectodermal dysplasia Clouston's syndrome Hidrotic ectodermal dysplasia syndrome ectodermal dysplasia 2, Clouston type hidrotic ectodermal dysplasia	Gjb6	14623	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14694	Johanson-Blizzard syndrome Aliases: JBS	UBR1	197131	Homo sapiens (human)	Alliance of Genome Resources
DOID:14695	galactokinase deficiency Aliases: Galactosemia II	GALK1	2584	Homo sapiens (human)	Alliance of Genome Resources
DOID:1470	major depressive disorder Aliases: clinical depression major depression recurrent major depression single major depressive episode unipolar depression	Htr2c	25187	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:1470	major depressive disorder Aliases: clinical depression major depression recurrent major depression single major depressive episode unipolar depression	CHRM2 CNTNAP2 CTNND2 FOXP2 HSPA1A HSPA1L HTR1B HTR2A IL10 IL6 MC1R MED12 NR3C1 NTRK2 SLC6A4	1129 1501 26047 2908 3303 3305 3351 3356 3569 3586 4157 4915 6532 93986 9968	Homo sapiens (human)	Alliance of Genome Resources
DOID:1470	major depressive disorder Aliases: clinical depression major depression recurrent major depression single major depressive episode unipolar depression	Adcy3 Crtc1	104111 382056	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14701	propionic acidemia Aliases: GLYCINEMIA, KETOTIC KETOTIC HYPERGLYCINEMIA ketotic II glycinemia ketotic glycinemia propionic aciduria propionyl-CoA carboxylase deficiency	PCCA PCCB	5095 5096	Homo sapiens (human)	Alliance of Genome Resources
DOID:14702	branchiootorenal syndrome Aliases: Branchio-Oto-renal syndrome Branchio-otorenal dysplasia Melnick-Fraser syndrome branchiootorenal dysplasia	SIX1	6495	Homo sapiens (human)	Alliance of Genome Resources
DOID:14705	Pfeiffer syndrome Aliases: acrocephalosyndactylia type V	Fgfr1 Fgfr2	14182 14183	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14705	Pfeiffer syndrome Aliases: acrocephalosyndactylia type V	FGFR1 FGFR2	2260 2263	Homo sapiens (human)	Alliance of Genome Resources
DOID:14711	FG syndrome Aliases: Keller syndrome Opitz-Kaveggia syndrome	CASK MED12	8573 9968	Homo sapiens (human)	Alliance of Genome Resources
DOID:14717	centronuclear myopathy Aliases: myotubular myopathy	Dnm2	13430	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14720	Ehlers-Danlos syndrome classic type 1 Aliases: Ehlers-Danlos syndrome, type 1 type I Ehlers-Danlos syndrome	Col5a1 Col5a2 Lum	12831 12832 17022	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14720	Ehlers-Danlos syndrome classic type 1 Aliases: Ehlers-Danlos syndrome, type 1 type I Ehlers-Danlos syndrome	COL5A1	1289	Homo sapiens (human)	Alliance of Genome Resources

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