KEGG   VARIANT: 4998v1
Entry
4998v1                      Variant                                
Name
ORC1 mutation
Type
Loss of function
Gene
ORC1  origin recognition complex subunit 1 [KO:K02603]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 601902
Network
nt06509  DNA replication
Disease
H01889  Meier-Gorlin syndrome
Reference
  Authors
Bicknell LS, Walker S, Klingseisen A, Stiff T, Leitch A, Kerzendorfer C, Martin CA, Yeyati P, Al Sanna N, Bober M, Johnson D, Wise C, Jackson AP, O'Driscoll M, Jeggo PA
  Title
Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome.
  Journal
Nat Genet 43:350-5 (2011)
DOI:10.1038/ng.776
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