holoprosencephaly Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description A congenital nervous system abnormality characterized by failed or incomplete separation of the forebrain early in gestation; it is accompanied by a spectrum of characteristic craniofacial anomalies. (Human Disease Ontology, DOID_4621)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0005157
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Genes

30 gene mutations causing the holoprosencephaly phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
B9D1 B9 protein domain 1
CC2D2A coiled-coil and C2 domain containing 2A
CDON cell adhesion associated, oncogene regulated
COL2A1 collagen, type II, alpha 1
DCTN5 dynactin 5 (p25)
DISP1 dispatched homolog 1 (Drosophila)
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
FAT1 FAT atypical cadherin 1
FOXH1 forkhead box H1
FOXP4 forkhead box P4
HHAT hedgehog acyltransferase
HIC1 hypermethylated in cancer 1
IFT172 intraflagellar transport 172
LRP2 low density lipoprotein receptor-related protein 2
MKS1 Meckel syndrome, type 1
NODAL nodal growth differentiation factor
OTX2 orthodenticle homeobox 2
PGAP1 post-GPI attachment to proteins 1
SHH sonic hedgehog
SIX3 SIX homeobox 3
SMAD2 SMAD family member 2
STIL SCL/TAL1 interrupting locus
TCTN1 tectonic family member 1
TDGF1 teratocarcinoma-derived growth factor 1
TGIF1 TGFB-induced factor homeobox 1
TMEM67 transmembrane protein 67
TTBK2 tau tubulin kinase 2
TWSG1 twisted gastrulation BMP signaling modulator 1
VAX1 ventral anterior homeobox 1
ZIC2 Zic family member 2