Joubert Syndrom Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C4274118
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Genes

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

Symbol Name
AHI1 Abelson helper integration site 1
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
CSPP1 centrosome and spindle pole associated protein 1
HYLS1 hydrolethalus syndrome 1
IFT140 intraflagellar transport 140
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
KIAA0556 KIAA0556
KIAA0586 KIAA0586
MICALL2 MICAL-like 2
MKS1 Meckel syndrome, type 1
PIBF1 progesterone immunomodulatory binding factor 1
SLC30A7 solute carrier family 30 (zinc transporter), member 7
TCTN1 tectonic family member 1
TCTN2 tectonic family member 2
TMEM237 transmembrane protein 237
TMEM67 transmembrane protein 67
TRIM37 tripartite motif containing 37
ZIC1 Zic family member 1