abnormal midbrain development Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description anomaly in the formation of or the patterning of the part of the brainstem developing from the middle of the three primary cerebral vesicles of the embryo (Mammalian Phenotype Ontology, MP_0003864)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0003864
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Genes

20 gene mutations causing the abnormal midbrain development phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
C2CD3 C2 calcium-dependent domain containing 3
CTBP2 C-terminal binding protein 2
EN1 engrailed homeobox 1
ERBB3 erb-b2 receptor tyrosine kinase 3
GBX2 gastrulation brain homeobox 2
IFT57 intraflagellar transport 57
IFT88 intraflagellar transport 88
INTU inturned planar cell polarity protein
MID1 midline 1
NR4A2 nuclear receptor subfamily 4, group A, member 2
OTX2 orthodenticle homeobox 2
PAX3 paired box 3
REST RE1-silencing transcription factor
RYBP RING1 and YY1 binding protein
SSBP3 single stranded DNA binding protein 3
SUFU suppressor of fused homolog (Drosophila)
TCOF1 Treacher Collins-Franceschetti syndrome 1
TMEM67 transmembrane protein 67
VANGL2 VANGL planar cell polarity protein 2
WNT1 wingless-type MMTV integration site family, member 1