abnormal head development Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description anomaly in the process in which the anatomical structures of the head are generated and organized (Mammalian Phenotype Ontology, MP_0012176)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0012176
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37 gene mutations causing the abnormal head development phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ALDH1A3 aldehyde dehydrogenase 1 family, member A3
ALX3 ALX homeobox 3
APC adenomatous polyposis coli
ATP2C1 ATPase, Ca++ transporting, type 2C, member 1
BMP4 bone morphogenetic protein 4
BTAF1 BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa
DKK1 dickkopf WNT signaling pathway inhibitor 1
DLX5 distal-less homeobox 5
DYNC2LI1 dynein, cytoplasmic 2, light intermediate chain 1
FGFR1 fibroblast growth factor receptor 1
FN1 fibronectin 1
FUZ fuzzy planar cell polarity protein
GLMN glomulin, FKBP associated protein
HAS2 hyaluronan synthase 2
HDAC1 histone deacetylase 1
HECTD1 HECT domain containing E3 ubiquitin protein ligase 1
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HIRA histone cell cycle regulator
KAT2A K(lysine) acetyltransferase 2A
LHX1 LIM homeobox 1
MAPK7 mitogen-activated protein kinase 7
MED12 mediator complex subunit 12
MIXL1 Mix paired-like homeobox
OTX2 orthodenticle homeobox 2
OVOL2 ovo-like zinc finger 2
PDPK1 3-phosphoinositide dependent protein kinase 1
PMM2 phosphomannomutase 2
PRDM1 PR domain containing 1, with ZNF domain
PTK2 protein tyrosine kinase 2
RSPO2 R-spondin 2
SKI SKI proto-oncogene
SOX10 SRY (sex determining region Y)-box 10
SSBP3 single stranded DNA binding protein 3
STK11 serine/threonine kinase 11
TMOD1 tropomodulin 1
TTN titin
VCL vinculin