Joubert Syndrome Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description An autosomal recessive disease that is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones resulting from dysfunction of ciliary proteins (ciliopathy). (Human Disease Ontology, DOID_0050777)
External Link https://www.disgenet.org/browser/0/1/0/C1837713
Similar Terms
Downloads & Tools

Genes

36 genes associated with the disease Joubert Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
AHI1 Abelson helper integration site 1
ARFGEF1 ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)
ARL13B ADP-ribosylation factor-like 13B
ARL3 ADP-ribosylation factor-like 3
ARMC9 armadillo repeat containing 9
B9D1 B9 protein domain 1
C5ORF42 chromosome 5 open reading frame 42
CC2D2A coiled-coil and C2 domain containing 2A
CEP104 centrosomal protein 104kDa
CEP120 centrosomal protein 120kDa
CEP290 centrosomal protein 290kDa
CEP41 centrosomal protein 41kDa
COPS5 COP9 signalosome subunit 5
CSPP1 centrosome and spindle pole associated protein 1
HVCN1 hydrogen voltage gated channel 1
KIAA0556 KIAA0556
KIAA0586 KIAA0586
KIF7 kinesin family member 7
LPO lactoperoxidase
MKS1 Meckel syndrome, type 1
NPHP1 nephronophthisis 1 (juvenile)
OFD1 oral-facial-digital syndrome 1
PDE6D phosphodiesterase 6D, cGMP-specific, rod, delta
PIBF1 progesterone immunomodulatory binding factor 1
RPGRIP1L RPGRIP1-like
SUFU suppressor of fused homolog (Drosophila)
TCTN1 tectonic family member 1
TCTN2 tectonic family member 2
TCTN3 tectonic family member 3
TMEM107 transmembrane protein 107
TMEM138 transmembrane protein 138
TMEM216 transmembrane protein 216
TMEM231 transmembrane protein 231
TMEM237 transmembrane protein 237
TMEM67 transmembrane protein 67
ZNF423 zinc finger protein 423