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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 **6226 - 6250** of **15957** in total

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Disease ID	Disease Name ▲	Gene Symbol	Gene ID	Organism	Source
DOID:0060649	congenital hereditary endothelial dystrophy of cornea Aliases: CHED	SLC4A11	83959	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050328	congenital hypothyroidism	Atp5pd Duox1 Duox2 G6pd Ghr Inhbb Nefl Nefm Ngfr Ppargc1a Slc5a5 Trhr Tshr	114613 24377 24588 24596 25196 25235 25360 25570 266807 641434 79107 83516 83613	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050328	congenital hypothyroidism	ZWF1	855480	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0050328	congenital hypothyroidism	Duox1 Egr1 Fos G6pd2 G6pdx Ghr Inhbb Nefh Nefl Nefm Ngfr Ppargc1a Runx2 Tg Tpo Trhr Tshr	12393 13653 14281 14380 14381 14600 16324 18039 18040 18053 19017 21819 22018 22045 22095 380684 99439	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050328	congenital hypothyroidism	ARPC5 DUOX1 DUOX2 EGR1 FOS G6PD GH2 GHR INHBB NEFH NEFL NEFM NGFR PAX8 PPARGC1A RUNX2 SLC26A7 SLC5A5 TG TPO TRHR TSHR	10092 10891 115111 1958 2353 2539 2689 2690 3625 4741 4744 4747 4804 50506 53905 6528 7038 7173 7201 7253 7849 860	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050328	congenital hypothyroidism	bli-3 duox-2 gspd-1	171608 178046 186188	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0050328	congenital hypothyroidism	Actbeta CG32669 Duox Zw kumpel	326229 32974 33477 43136 43826	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110711	congenital hypotrichosis with juvenile macular dystrophy Aliases: Hjmd hypotrichosis with cone-rod dystrophy	CDH3	1001	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110711	congenital hypotrichosis with juvenile macular dystrophy Aliases: Hjmd hypotrichosis with cone-rod dystrophy	Cdh3	12560	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110711	congenital hypotrichosis with juvenile macular dystrophy Aliases: Hjmd hypotrichosis with cone-rod dystrophy	cdh1	114424	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0050734	congenital intrinsic factor deficiency Aliases: hereditary intrinsic factor deficiency	Cblif	29319	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050734	congenital intrinsic factor deficiency Aliases: hereditary intrinsic factor deficiency	CG3556	31380	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0050734	congenital intrinsic factor deficiency Aliases: hereditary intrinsic factor deficiency	Cblif	14603	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050734	congenital intrinsic factor deficiency Aliases: hereditary intrinsic factor deficiency	CBLIF	2694	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111646	congenital lactase deficiency Aliases: CLD congenital alactasia congenital alactasia syndrome congenital lactose intolerance congenital lactose malabsorption disaccharide intolerance II	LCT	3938	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111334	congenital leptin deficiency Aliases: LEPD leptin deficiency or dysfunction obesity due to congenital leptin deficiency	Lep	16846	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111334	congenital leptin deficiency Aliases: LEPD leptin deficiency or dysfunction obesity due to congenital leptin deficiency	LEP	3952	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111334	congenital leptin deficiency Aliases: LEPD leptin deficiency or dysfunction obesity due to congenital leptin deficiency	Lep	25608	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0081048	congenital limbs-face contractures-hypotonia-developmental delay syndrome Aliases: CLIFAHDD syndrome congenital contractures of the limbs and face, hypotonia, and developmental delay	Nalcn	338370	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081048	congenital limbs-face contractures-hypotonia-developmental delay syndrome Aliases: CLIFAHDD syndrome congenital contractures of the limbs and face, hypotonia, and developmental delay	NALCN	259232	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110636	congenital merosin-deficient muscular dystrophy 1A Aliases: CMD1A MDC1A Merosin-negative congenital muscular dystrophy congenital muscular dystrophy due to laminin alpha2 deficiency	LAMA2	3908	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110636	congenital merosin-deficient muscular dystrophy 1A Aliases: CMD1A MDC1A Merosin-negative congenital muscular dystrophy congenital muscular dystrophy due to laminin alpha2 deficiency	lam-3	172952	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0110636	congenital merosin-deficient muscular dystrophy 1A Aliases: CMD1A MDC1A Merosin-negative congenital muscular dystrophy congenital muscular dystrophy due to laminin alpha2 deficiency	Lama2	16773	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111153	congenital mirror movement disorder Aliases: familial congenital controlateral synkinesia familial congenital mirror movements hereditary congenital controlateral synkinesia hereditary congenital mirror movements isolated congenital controlateral synkinesia isolated congenital mirror movements	Dcc Ntn1	13176 18208	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111153	congenital mirror movement disorder Aliases: familial congenital controlateral synkinesia familial congenital mirror movements hereditary congenital controlateral synkinesia hereditary congenital mirror movements isolated congenital controlateral synkinesia isolated congenital mirror movements	DCC NTN1	1630 9423	Homo sapiens (human)	Alliance of Genome Resources

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