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
Similar Terms
Downloads & Tools

Genes

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
RPGRIP1L	RPGRIP1-like
TCTN3	tectonic family member 3
TMEM138	transmembrane protein 138
TMEM216	transmembrane protein 216
TMEM231	transmembrane protein 231
TMEM67	transmembrane protein 67