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Alliance of Genome Resources

Alliance of Genome Resources is a gene dataset, which contains curated genome information essential for the understanding of the genetics and genomic basis of human biology, health and disease. All data is retrieved from six major model organism databases and the Gene Ontology including FlyBase, Mouse Genome Database (MGI), Rat Genome Database (RGD), Saccharomyces Genome Database (SGD), WormBase, Zebrafish Information Network (ZFIN), and the GO Consortium. In GlyCosmos, only glycan-related disease information has been extracted from Alliance of Genome Resources.

Source Last Updated
Alliance of Genome Resources October 9, 2024
Displaying entries 68251 - 68275 of 71927 in total
Disease ID Disease Name Alliance of Genome Resources ID Species Gene ID Gene Symbol FlyGlycoDB Evidence Code Names References ▼
DOID:3649 pyruvate decarboxylase deficiency HGNC:2896 Homo sapiens (human) 1737 DLAT
  • MGI:6194238
  • RGD:7240710
DOID:0070339 cerebellar hyplasia/atrophy, epilepsy, and global developmental delay HGNC:15822 Homo sapiens (human) 55074 OXR1
  • MGI:6194238
  • RGD:7240710
DOID:0070299 multiple epiphyseal dysplasia 5 HGNC:6909 Homo sapiens (human) 4148 MATN3
  • MGI:6194238
  • RGD:7240710
DOID:0050989 episodic ataxia type 1 HGNC:6218 Homo sapiens (human) 3736 KCNA1
  • MGI:6194238
  • RGD:7240710
DOID:0110728 neuronal ceroid lipofuscinosis 5 HGNC:2076 Homo sapiens (human) 1203 CLN5
  • MGI:6194238
  • RGD:7240710
DOID:0110945 autosomal recessive osteopetrosis 6 HGNC:29017 Homo sapiens (human) 9842 PLEKHM1
  • MGI:6194238
  • RGD:7240710
DOID:0111181 familial hemiplegic migraine 1 HGNC:1388 Homo sapiens (human) 773 CACNA1A
  • MGI:6194238
  • RGD:7240710
DOID:0110852 rhizomelic chondrodysplasia punctata type 2 HGNC:4416 Homo sapiens (human) 8443 GNPAT
  • MGI:6194238
  • RGD:7240710
DOID:0111223 centronuclear myopathy 1 HGNC:2974 Homo sapiens (human) 1785 DNM2
  • MGI:6194238
  • RGD:7240710
DOID:0111083 Fanconi anemia complementation group D2 HGNC:3585 Homo sapiens (human) 2177 FANCD2
  • MGI:6194238
  • RGD:7240710
DOID:0111155 autosomal recessive spinocerebellar ataxia 21 HGNC:14372 Homo sapiens (human) 57410 SCYL1
  • MGI:6194238
  • RGD:7240710
DOID:0080422 Dravet syndrome HGNC:10585 Homo sapiens (human) 6323 SCN1A
  • MGI:6194238
  • RGD:7240710
DOID:0111074 progressive familial heart block type IA HGNC:10593 Homo sapiens (human) 6331 SCN5A
  • MGI:6194238
  • RGD:7240710
DOID:0111918 spermatogenic failure 40 HGNC:25325 Homo sapiens (human) 255101 CFAP65
  • MGI:6194238
  • RGD:7240710
DOID:0060370 Parkinson's disease 7 HGNC:16369 Homo sapiens (human) 11315 PARK7
  • MGI:6194238
  • RGD:7240710
DOID:3783 Coffin-Lowry syndrome HGNC:10432 Homo sapiens (human) 6197 RPS6KA3
  • MGI:6194238
  • RGD:7240710
DOID:0110481 autosomal recessive nonsyndromic deafness 23 HGNC:14674 Homo sapiens (human) 65217 PCDH15
  • MGI:6194238
  • RGD:7240710
DOID:0070444 neurodevelopmental disorder with language delay and seizures HGNC:11805 Homo sapiens (human) 7074 TIAM1
  • MGI:6194238
  • RGD:7240710
DOID:3535 Unverricht-Lundborg syndrome HGNC:2482 Homo sapiens (human) 1476 CSTB
  • MGI:6194238
  • RGD:7240710
DOID:2741 bilirubin metabolic disorder HGNC:10959 Homo sapiens (human) 10599 SLCO1B1
  • MGI:6194238
  • RGD:7240710
DOID:0111960 immunodeficiency 15A HGNC:5960 Homo sapiens (human) 3551 IKBKB
  • MGI:6194238
  • RGD:7240710
DOID:0080498 ovarian dysgenesis 6 HGNC:29914 Homo sapiens (human) 57122 NUP107
  • MGI:6194238
  • RGD:7240710
DOID:0110605 primary ciliary dyskinesia 7 HGNC:2942 Homo sapiens (human) 8701 DNAH11
  • MGI:6194238
  • RGD:7240710
DOID:0080698 Teebi hypertelorism syndrome 1 HGNC:29022 Homo sapiens (human) 23384 SPECC1L
  • MGI:6194238
  • RGD:7240710
DOID:0090140 cortisone reductase deficiency 2 HGNC:5208 Homo sapiens (human) 3290 HSD11B1
  • MGI:6194238
  • RGD:7240710

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Supported by JST NBDC Grant Number JPMJND2204

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Last updated: December 9, 2024