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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 January 28, 2025
Displaying entries 14151 - 14175 of 14279 in total
Disease ID Disease Name Alliance of Genome Resources ID Species Gene ID Gene Symbol FlyGlycoDB Evidence References ▲
DOID:446 primary hyperaldosteronism HGNC:2020 Homo sapiens (human) 1181 CLCN2 inference by association of genotype from phenotype used in manual assertion
  • RGD:7240710
DOID:0060309 syndromic X-linked intellectual disability HGNC:2745 Homo sapiens (human) 1654 DDX3X inference by association of genotype from phenotype used in manual assertion
  • RGD:7240710
DOID:0080429 developmental and epileptic encephalopathy 24 HGNC:4845 Homo sapiens (human) 348980 HCN1 inference by association of genotype from phenotype used in manual assertion
  • RGD:7240710
DOID:0081348 congenital myopathy 16 HGNC:7549 Homo sapiens (human) 4604 MYBPC1 inference by association of genotype from phenotype used in manual assertion
  • RGD:7240710
DOID:0110659 congenital myasthenic syndrome 7 HGNC:11510 Homo sapiens (human) 127833 SYT2 inference by association of genotype from phenotype used in manual assertion
  • RGD:7240710
DOID:2394 ovarian cancer HGNC:8975 Homo sapiens (human) 5290 PIK3CA inference by association of genotype from phenotype used in manual assertion
  • RGD:7240710
DOID:14671 multiple intestinal atresia HGNC:19750 Homo sapiens (human) 57217 TTC7A inference by association of genotype from phenotype used in manual assertion
  • RGD:7240710
DOID:0081135 agammaglobulinemia 2 HGNC:5870 Homo sapiens (human) 3543 IGLL1 inference by association of genotype from phenotype used in manual assertion
  • RGD:7240710
DOID:0070441 retinal macular dystrophy 4 HGNC:11891 Homo sapiens (human) 7123 CLEC3B inference by association of genotype from phenotype used in manual assertion
  • RGD:7240710
DOID:2394 ovarian cancer HGNC:1748 Homo sapiens (human) 999 CDH1 inference by association of genotype from phenotype used in manual assertion
  • RGD:7240710
DOID:10825 essential hypertension HGNC:804 Homo sapiens (human) 481 ATP1B1 inference by association of genotype from phenotype used in manual assertion
  • RGD:7240710
DOID:0080960 amelogenesis imperfecta type 2A6 HGNC:4519 Homo sapiens (human) 8111 GPR68 inference by association of genotype from phenotype used in manual assertion
  • RGD:7240710
DOID:0111485 combined oxidative phosphorylation deficiency 24 HGNC:26274 Homo sapiens (human) 79731 NARS2 inference by association of genotype from phenotype used in manual assertion
  • RGD:7240710
DOID:0111768 X-linked properdin deficiency HGNC:8864 Homo sapiens (human) 5199 CFP inference by association of genotype from phenotype used in manual assertion
  • RGD:7240710
DOID:0080454 developmental and epileptic encephalopathy 42 HGNC:1388 Homo sapiens (human) 773 CACNA1A inference by association of genotype from phenotype used in manual assertion
  • RGD:7240710
DOID:0080422 Dravet syndrome HGNC:10585 Homo sapiens (human) 6323 SCN1A inference by association of genotype from phenotype used in manual assertion
  • RGD:7240710
DOID:0112160 autosomal dominant nonsyndromic deafness 79 HGNC:21088 Homo sapiens (human) 79966 SCD5 inference by association of genotype from phenotype used in manual assertion
  • RGD:7240710
DOID:0070048 GAND syndrome HGNC:30778 Homo sapiens (human) 57459 GATAD2B inference by association of genotype from phenotype used in manual assertion
  • RGD:7240710
DOID:0060956 dystonia 37, early-onset with striatal lesions HGNC:17359 Homo sapiens (human) 53371 NUP54 inference by association of genotype from phenotype used in manual assertion
  • RGD:7240710
DOID:0080309 fatal infantile hypertonic myofibrillar myopathy HGNC:2389 Homo sapiens (human) 1410 CRYAB inference by association of genotype from phenotype used in manual assertion
  • RGD:7240710
DOID:0110862 congenital stationary night blindness autosomal dominant 1 HGNC:10012 Homo sapiens (human) 6010 RHO inference by association of genotype from phenotype used in manual assertion
  • RGD:7240710
DOID:0060543 Hermansky-Pudlak syndrome 5 HGNC:17022 Homo sapiens (human) 11234 HPS5 inference by association of genotype from phenotype used in manual assertion
  • RGD:7240710
DOID:0060387 chondrodysplasia Blomstrand type HGNC:9608 Homo sapiens (human) 5745 PTH1R inference by association of genotype from phenotype used in manual assertion
  • RGD:7240710
DOID:0060366 Hennekam syndrome HGNC:29426 Homo sapiens (human) 147372 CCBE1 inference by association of genotype from phenotype used in manual assertion
  • RGD:7240710
DOID:0081228 autosomal recessive intellectual developmental disorder 67 HGNC:3275 Homo sapiens (human) 8665 EIF3F inference by association of genotype from phenotype used in manual assertion
  • RGD:7240710
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Supported by JST NBDC Grant Number JPMJND2204

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

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