Orofaciodigital Syndrome Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A genetic disease that is characterized by malformations of the face, oral cavity, and digits with polycystic kidney disease and variable involvement of the central nervous system and has_material_basis_in X-linked inheritance of an OFD gene. (Human Disease Ontology, DOID_4501)
External Link https://www.disgenet.org/browser/0/1/0/C0796102
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Genes

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

Symbol Name
ANOS1 anosmin 1
C2CD3 C2 calcium-dependent domain containing 3
C5ORF42 chromosome 5 open reading frame 42
CDKL5 cyclin-dependent kinase-like 5
CEP290 centrosomal protein 290kDa
DDX59 DEAD (Asp-Glu-Ala-Asp) box polypeptide 59
FAM149B1 family with sequence similarity 149, member B1
FOPNL FGFR1OP N-terminal like
FOXG1 forkhead box G1
GLI3 GLI family zinc finger 3
GYS2 glycogen synthase 2 (liver)
HFM1 HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)
IFT57 intraflagellar transport 57
INTU inturned planar cell polarity protein
KIAA0753 KIAA0753
KIF7 kinesin family member 7
NEK1 NIMA-related kinase 1
OFD1 oral-facial-digital syndrome 1
PCBD1 pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha
PDE6D phosphodiesterase 6D, cGMP-specific, rod, delta
RAB18 RAB18, member RAS oncogene family
SCLT1 sodium channel and clathrin linker 1
SDCCAG8 serologically defined colon cancer antigen 8
SERPINA4 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4
TBC1D20 TBC1 domain family, member 20
TBC1D32 TBC1 domain family, member 32
TCTN1 tectonic family member 1
TCTN3 tectonic family member 3
TMEM107 transmembrane protein 107
TMEM216 transmembrane protein 216
TMEM231 transmembrane protein 231