molar tooth sign on mri Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormal appearance of the midbrain in axial magnetic resonance imaging in which the elongated superior cerebellar peduncles give the midbrain an appearance reminiscent of a molar or wisdom tooth. (Human Phenotype Ontology, HP_0002419)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002419
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Genes

17 genes associated with the molar tooth sign on mri phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AHI1 Abelson helper integration site 1
ARL13B ADP-ribosylation factor-like 13B
C2CD3 C2 calcium-dependent domain containing 3
CC2D2A coiled-coil and C2 domain containing 2A
CEP290 centrosomal protein 290kDa
CEP41 centrosomal protein 41kDa
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
KIF7 kinesin family member 7
NPHP1 nephronophthisis 1 (juvenile)
OFD1 oral-facial-digital syndrome 1
PDE6D phosphodiesterase 6D, cGMP-specific, rod, delta
RPGRIP1L RPGRIP1-like
TCTN3 tectonic family member 3
TMEM138 transmembrane protein 138
TMEM216 transmembrane protein 216
TMEM231 transmembrane protein 231
TMEM67 transmembrane protein 67