abnormal neural crest cell morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the transient and highly migratory group of cells that delaminate in early embryonic development from the dorsal neural tube and give rise to a variety of differentiated cell types, including (1) the neurons and glial cells of the sensory, sympathetic, and parasympathetic nervous systems, (2) the epinephrine-producing (medulla) cells of the adrenal gland, (3) the pigment-containing cells of the epidermis, and (4) many of the skeletal and connective tissue components of the head (Mammalian Phenotype Ontology, MP_0009845)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0009845
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Genes

24 gene mutations causing the abnormal neural crest cell morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ADAMTS20 ADAM metallopeptidase with thrombospondin type 1 motif, 20
CITED2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
EDN3 endothelin 3
EFNB2 ephrin-B2
FGFR1 fibroblast growth factor receptor 1
GBX2 gastrulation brain homeobox 2
GLI3 GLI family zinc finger 3
HHAT hedgehog acyltransferase
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KITLG KIT ligand
LTBP1 latent transforming growth factor beta binding protein 1
MKL2 MKL/myocardin-like 2
NF1 neurofibromin 1
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PHOX2B paired-like homeobox 2b
PTK7 protein tyrosine kinase 7 (inactive)
RET ret proto-oncogene
RPS7 ribosomal protein S7
RTEL1 regulator of telomere elongation helicase 1
SIX1 SIX homeobox 1
SOX10 SRY (sex determining region Y)-box 10
TCOF1 Treacher Collins-Franceschetti syndrome 1
ZEB2 zinc finger E-box binding homeobox 2
ZIC2 Zic family member 2