Lobar Holoprosencephaly Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A type of holoprosencephaly in which most of the right and left cerebral hemispheres and lateral ventricles are separated but the most rostral aspect of the telencephalon, the frontal lobes, are fused, especially ventrally. (Human Phenotype Ontology, HP_0006870)
External Link https://www.disgenet.org/browser/0/1/0/C0431362
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Genes

37 genes associated with the disease Lobar Holoprosencephaly in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
B9D1 B9 protein domain 1
B9D2 B9 protein domain 2
CC2D2A coiled-coil and C2 domain containing 2A
CDON cell adhesion associated, oncogene regulated
CEP290 centrosomal protein 290kDa
CEP55 centrosomal protein 55kDa
CHD7 chromodomain helicase DNA binding protein 7
CSPP1 centrosome and spindle pole associated protein 1
DISP1 dispatched homolog 1 (Drosophila)
DLL1 delta-like 1 (Drosophila)
FGF8 fibroblast growth factor 8 (androgen-induced)
FGFR1 fibroblast growth factor receptor 1
FOXH1 forkhead box H1
GAS1 growth arrest-specific 1
GLI2 GLI family zinc finger 2
KMT2D lysine (K)-specific methyltransferase 2D
MKS1 Meckel syndrome, type 1
NODAL nodal growth differentiation factor
PTCH1 patched 1
RAD51C RAD51 paralog C
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1
RPGRIP1L RPGRIP1-like
RTTN rotatin
SHH sonic hedgehog
SIX3 SIX homeobox 3
STIL SCL/TAL1 interrupting locus
TCTN2 tectonic family member 2
TDGF1 teratocarcinoma-derived growth factor 1
TGIF1 TGFB-induced factor homeobox 1
TMEM107 transmembrane protein 107
TMEM216 transmembrane protein 216
TMEM231 transmembrane protein 231
TMEM67 transmembrane protein 67
TWSG1 twisted gastrulation BMP signaling modulator 1
VAX1 ventral anterior homeobox 1
WDPCP WD repeat containing planar cell polarity effector
ZIC2 Zic family member 2