abnormality of midbrain morphology Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the midbrain, which has as its parts the tectum, cerebral peduncle, midbrain tegmentum and cerebral aqueduct. (Human Phenotype Ontology, HP_0002418)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002418
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19 genes associated with the abnormality of midbrain morphology 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
LRRK2 leucine-rich repeat kinase 2
NPHP1 nephronophthisis 1 (juvenile)
OFD1 oral-facial-digital syndrome 1
PARK2 parkin RBR E3 ubiquitin protein ligase
PDE6D phosphodiesterase 6D, cGMP-specific, rod, delta
TCTN3 tectonic family member 3
TMEM138 transmembrane protein 138
TMEM216 transmembrane protein 216
TMEM231 transmembrane protein 231
TMEM67 transmembrane protein 67