KEGG   VARIANT: 7528v1
Entry
7528v1                      Variant                                
Name
YY1 mutation
Type
Loss of function
Gene
YY1  YY1 transcription factor [KO:K09201]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 600013
Network
nt06523  Epigenetic regulation by Polycomb complexes
Disease
H02490  Gabriele-de Vries syndrome
Reference
  Authors
Gabriele M, Vulto-van Silfhout AT, Germain PL, Vitriolo A, Kumar R, Douglas E, Haan E, Kosaki K, Takenouchi T, Rauch A, Steindl K, Frengen E, Misceo D, Pedurupillay CRJ, Stromme P, Rosenfeld JA, Shao Y, Craigen WJ, Schaaf CP, Rodriguez-Buritica D, Farach L, Friedman J, Thulin P, McLean SD, Nugent KM, Morton J, Nicholl J, Andrieux J, Stray-Pedersen A, Chambon P, Patrier S, Lynch SA, Kjaergaard S, Torring PM, Brasch-Andersen C, Ronan A, van Haeringen A, Anderson PJ, Powis Z, Brunner HG, Pfundt R, Schuurs-Hoeijmakers JHM, van Bon BWM, Lelieveld S, Gilissen C, Nillesen WM, Vissers LELM, Gecz J, Koolen DA, Testa G, de Vries BBA
  Title
YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction.
  Journal
Am J Hum Genet 100:907-925 (2017)
DOI:10.1016/j.ajhg.2017.05.006
LinkDB

DBGET integrated database retrieval system