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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 **7801 - 7825** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0050947	hereditary hypophosphatemic rickets with hypercalciuria	Slc34a1 Slc34a3	142681 20505	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14749	methylmalonic acidemia Aliases: methylmalonic aciduria	Mmut	17850	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1800	neuroendocrine carcinoma	Eno2	13807	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060741	methylmalonic acidemia due to transcobalamin receptor defect Aliases: methylmalonic acidemia, TCblR type methylmalonic aciduria due to transcobalamin receptor defect	Cd320	54219	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12801	mucopolysaccharidosis III Aliases: Mucopolysaccharidosis, MPS-III N-sulphoglucosamine sulphohydrolase deficiency Sanfilippo's syndrome heparan sulfate sulfatase deficiency	Gns Hgsnat Naglu Sgsh	27029 27419 52120 75612	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110824	hereditary spastic paraplegia 9A Aliases: AD-SPG9A Cataracts motor neuropathy-short stature-skeletal anomalies syndrome SPG9A autosomal dominant complex spastic paraplegia type 9A autosomal dominant spastic paraplegia 9A cataracts with motor neuronopathy, short stature and skeletal abnormalities spastic paraparesis with amyopathy, cataracts and gastroesophageal reflux spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome	Aldh18a1	56454	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080181	PHARC syndrome Aliases: polyneyropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	Abhd12	76192	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:90	degenerative disc disease Aliases: cervical disc degenerative disease intervertebral disc degeneration lumbar disc degeneration vertebral disc disease	Acan Adamts4 Adamts5 Aspn Col1a1 Col2a1 Fos Gsk3b Mmp13 Mmp1a Ngf Ngfr Pappa Postn Timp1	11595 12824 12842 14281 17386 18049 18053 18491 21857 23794 240913 50706 56637 66695 83995	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110050	Alzheimer's disease 18 Aliases: AD18 Alzheimer disease 18 Alzheimer's disease 18, late onset	Adam10	11487	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050633	ocular albinism 1 Aliases: Albinism ocular 1 ocular albinism	Gpr143 Tyr	18241 22173	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070040	autosomal dominant intellectual developmental disorder 10 Aliases: MRD10 autosomal dominant mental retardation 10 autosomal dominant non-syndromic intellectual disability 10	Cacng2	12300	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14695	galactokinase deficiency Aliases: Galactosemia II	Galk1	14635	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:440	neuromuscular disease	Gdnf Gpi1	14573 14751	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9834	hyperopia Aliases: Far-sightedness farsightedness hypermetropia	Mfrp Myrf Nog	18121 225908 259172	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090144	Donnai-Barrow syndrome Aliases: DBS/FOAR syndrome FOAR syndrome Holmes-Schepens syndrome diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria diaphragmatic hernia-exomphalos-hypertelorism syndrome diaphragmatic hernia-hypertelorism-myopia-deafness syndrome facio-oculo-acoustico-renal syndrome faciooculoacousticorenal syndrome syndrome of ocular and facial anomalies, telecanthus and deafness	Lrp2	14725	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112206	developmental and epileptic encephalopathy 70 Aliases: DEE70 early infantile epileptic encephalopathy 70	Phactr1	218194	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1926	Gaucher's disease Aliases: Gaucher disease acid beta-glucosidase deficiency glocucerebrosidase deficiency glucosylceramide beta-glucosidase deficiency kerasin thesaurismosis	Gba1 Psap Tnf	14466 19156 21926	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110160	Charcot-Marie-Tooth disease axonal type 2T Aliases: AR-CMT2T CMT2T Charcot-Marie-Tooth neuropathy type 2T autosomal recessive axonal Charcot-Marie-Tooth disease type 2T	Mme	17380	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2871	endometrial carcinoma Aliases: carcinoma of the Endometrium endometrioid carcinoma endometrioid carcinoma of female Reproductive system	Aurkb Braf Bsg Ccnb1 Cd82 Cdh13 Erap1 Fgf7 Gsk3b Jun Mmp8 Mmp9 Msh3 Ncoa1 Ncor2 Nos3 Pik3r1 Ptgs1 Rassf1 Smad4 Sparc Timp1 Trp53 Wnt2 Wnt4 Wnt5a	109880 12215 12521 12554 14178 16476 17128 17394 17395 17686 17977 18127 18708 19224 20602 20692 20877 21857 22059 22413 22417 22418 268697 56289 56637 80898	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11563	retinal vasculitis	H2-D1 H2-K1 H2-M2 H2-Q10 H2-Q1 H2-Q2 H2-Q4 H2-Q6 H2-Q7 H2-T3	110557 14964 14972 14990 15006 15007 15013 15015 15018 15043	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050168	autoimmune polyendocrine syndrome type 2 Aliases: Schmidt syndrome	H2-Aa H2-Ab1 H2-Eb1	14960 14961 14969	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070329	mitochondrial DNA depletion syndrome Aliases: mtDNA depletion syndrome	Slc25a10	27376	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111401	congenital dyserythropoietic anemia type II Aliases: CDA II CDA type 2 CDA type II CDAN2 Congenital dyserythropoietic anaemia type 2 Congenital dyserythropoietic anemia type 2 Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas) SEC23B-CDG congenital dyserythropoietic anaemia type II	Sec23a Sec23b	20334 27054	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070042	Coffin-Siris syndrome 1 Aliases: CSS1 MRD12 autosomal dominant mental retardation 12 fifth digit syndrome	Arid1a	93760	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080086	nonsyndromic congenital nail disorder 8 Aliases: isolated toenail dystrophy	Col7a1	12836	Mus musculus (house mouse)	Alliance of Genome Resources

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