abnormal cerebellum vermis morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the narrow medial zone between the two hemispheres of the cerebellum that is delimited by two longitudinal furrows; it may be continuous with the cerebellar hemispheres in some areas of the cerebellum, e.g., dorsally, or separated by deeper fissues in others (e.g., ventrally); it receives inputs from the spinocerebellar tracts which carry to the vermis information on the position and balance of the torso, and it sends projections to the fastigial nucleus of the cerebellum, which then sends output to the vestibular nuclei (Mammalian Phenotype Ontology, MP_0000864)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000864
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34 gene mutations causing the abnormal cerebellum vermis morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
AHI1 Abelson helper integration site 1
ARCN1 archain 1
ATXN7 ataxin 7
CACNA2D2 calcium channel, voltage-dependent, alpha 2/delta subunit 2
CEP290 centrosomal protein 290kDa
CERS1 ceramide synthase 1
CTNNA2 catenin (cadherin-associated protein), alpha 2
EBF2 early B-cell factor 2
EN1 engrailed homeobox 1
EN2 engrailed homeobox 2
ERBB3 erb-b2 receptor tyrosine kinase 3
FGF17 fibroblast growth factor 17
FGFR1 fibroblast growth factor receptor 1
FOXB1 forkhead box B1
GABRB3 gamma-aminobutyric acid (GABA) A receptor, beta 3
KCNJ6 potassium channel, inwardly rectifying subfamily J, member 6
L1CAM L1 cell adhesion molecule
LMX1A LIM homeobox transcription factor 1, alpha
MID1 midline 1
MKS1 Meckel syndrome, type 1
MSX2 msh homeobox 2
NAPA N-ethylmaleimide-sensitive factor attachment protein, alpha
NPC1 Niemann-Pick disease, type C1
PAX5 paired box 5
PAX6 paired box 6
SCYL1 SCY1-like 1 (S. cerevisiae)
TMEM67 transmembrane protein 67
TOR1A torsin family 1, member A (torsin A)
TP53 tumor protein p53
UNC5C unc-5 homolog C (C. elegans)
WNT1 wingless-type MMTV integration site family, member 1
ZIC1 Zic family member 1
ZIC4 Zic family member 4
ZNF423 zinc finger protein 423