Table Filtering
Other Information
Release Statistics Download
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 67126 - 67150 of 71927 in total
Disease ID Disease Name Alliance of Genome Resources ID Species Gene ID Gene Symbol FlyGlycoDB Evidence Code Names ▼ References
DOID:1933 Rubinstein-Taybi syndrome HGNC:2348 Homo sapiens (human) 1387 CREBBP
  • MGI:6194238
  • RGD:7240710
DOID:1932 Angelman syndrome HGNC:12496 Homo sapiens (human) 7337 UBE3A
  • MGI:6194238
  • PMID:8988171
  • RGD:7240710
DOID:0060877 bullous congenital ichthyosiform erythroderma HGNC:6439 Homo sapiens (human) 3849 KRT2
  • MGI:6194238
  • RGD:7240710
DOID:576 proteinuria HGNC:2707 Homo sapiens (human) 1636 ACE
  • MGI:6194238
  • PMID:10193250
DOID:0080311 X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance HGNC:8148 Homo sapiens (human) 4983 OPHN1
  • MGI:6194238
  • PMID:12807966
  • PMID:16158428
  • PMID:18261018
  • PMID:20528889
  • PMID:24105372
  • RGD:7240710
DOID:0050883 infantile cerebellar-retinal degeneration HGNC:118 Homo sapiens (human) 50 ACO2
  • MGI:6194238
  • RGD:7240710
DOID:9775 diastolic heart failure HGNC:2707 Homo sapiens (human) 1636 ACE
  • MGI:6194238
  • PMID:19021695
  • PMID:19752885
DOID:0050679 blue cone monochromacy HGNC:4206 Homo sapiens (human) 2652 OPN1MW
  • MGI:6194238
  • RGD:7240710
DOID:0060602 alpha-methylacyl-CoA racemase deficiency HGNC:451 Homo sapiens (human) 23600 AMACR
  • MGI:6194238
  • RGD:7240710
DOID:11949 Creutzfeldt-Jakob disease HGNC:9449 Homo sapiens (human) 5621 PRNP
  • MGI:6194238
  • PMID:1684755
  • RGD:7240710
DOID:0060693 Brunner Syndrome HGNC:6833 Homo sapiens (human) 4128 MAOA
  • MGI:6194238
  • RGD:7240710
DOID:0080245 Galloway-Mowat syndrome 3 HGNC:18028 Homo sapiens (human) 55644 OSGEP
  • MGI:6194238
  • RGD:7240710
DOID:2935 Chediak-Higashi syndrome HGNC:1968 Homo sapiens (human) 1130 LYST
  • MGI:6194238
  • RGD:7240710
DOID:0081423 familial focal epilepsy with variable foci 3 HGNC:14124 Homo sapiens (human) 8131 NPRL3
  • MGI:6194238
  • RGD:7240710
DOID:0110633 rigid spine muscular dystrophy 1 HGNC:15999 Homo sapiens (human) 57190 SELENON
  • MGI:6194238
  • PMID:11528383
  • RGD:7240710
DOID:12365 malaria HGNC:3616 Homo sapiens (human) 2212 FCGR2A
  • MGI:6194238
  • PMID:19965803
  • RGD:7240710
DOID:0050787 juvenile polyposis syndrome HGNC:1076 Homo sapiens (human) 657 BMPR1A
  • MGI:6194238
  • PMID:11536076
  • RGD:7240710
DOID:0090125 brain small vessel disease 1 HGNC:2202 Homo sapiens (human) 1282 COL4A1
  • MGI:6194238
  • RGD:7240710
DOID:1933 Rubinstein-Taybi syndrome HGNC:3373 Homo sapiens (human) 2033 EP300
  • MGI:6194238
  • PMID:15706485
  • PMID:17220215
  • RGD:7240710
DOID:0060740 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency HGNC:7526 Homo sapiens (human) 4594 MMUT
  • MGI:6194238
  • PMID:27167370
  • RGD:7240710
DOID:0090019 sitosterolemia HGNC:13887 Homo sapiens (human) 64241 ABCG8
  • MGI:6194238
  • PMID:11099417
  • PMID:11452359
  • RGD:7240710
DOID:0060843 hereditary neuropathy with liability to pressure palsies HGNC:9118 Homo sapiens (human) 5376 PMP22
  • MGI:6194238
  • RGD:7240710
DOID:0110816 hereditary spastic paraplegia 7 HGNC:11237 Homo sapiens (human) 6687 SPG7
  • MGI:6194238
  • RGD:7240710
DOID:0110497 autosomal recessive nonsyndromic deafness 39 HGNC:4893 Homo sapiens (human) 3082 HGF
  • MGI:6194238
  • PMID:19576567
  • RGD:7240710
DOID:1312 focal segmental glomerulosclerosis HGNC:12338 Homo sapiens (human) 7225 TRPC6
  • MGI:6194238
  • PMID:15879175
  • PMID:15924139
  • PMID:22980509

About Release Notes Help Feedback

International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.1.0

Last updated: December 9, 2024