abnormal head size Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description anomaly in the average size of the portion of the body containing the brain and organs of sight, hearing, taste, and smell (Mammalian Phenotype Ontology, MP_0011496)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0011496
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77 gene mutations causing the abnormal head size phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACVRL1 activin A receptor type II-like 1
ADGRA2 adhesion G protein-coupled receptor A2
APAF1 apoptotic peptidase activating factor 1
ASPA aspartoacylase
ASPM asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
ATR ATR serine/threonine kinase
BCOR BCL6 corepressor
BNC2 basonuclin 2
BRWD3 bromodomain and WD repeat domain containing 3
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CHRD chordin
COL2A1 collagen, type II, alpha 1
CSK c-src tyrosine kinase
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
DCTN5 dynactin 5 (p25)
DKK1 dickkopf WNT signaling pathway inhibitor 1
DYRK1A dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A
ENG endoglin
EYA1 EYA transcriptional coactivator and phosphatase 1
FGFR3 fibroblast growth factor receptor 3
FRS2 fibroblast growth factor receptor substrate 2
GLI2 GLI family zinc finger 2
HES1 hes family bHLH transcription factor 1
HESX1 HESX homeobox 1
HSD17B2 hydroxysteroid (17-beta) dehydrogenase 2
HUWE1 HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase
HYDIN HYDIN, axonemal central pair apparatus protein
ITGAV integrin, alpha V
KIF14 kinesin family member 14
KIF20B kinesin family member 20B
KLF2 Kruppel-like factor 2
LAMA5 laminin, alpha 5
LIAS lipoic acid synthetase
LMNB1 lamin B1
MAP3K3 mitogen-activated protein kinase kinase kinase 3
MAP3K7 mitogen-activated protein kinase kinase kinase 7
MARCKS myristoylated alanine-rich protein kinase C substrate
MCPH1 microcephalin 1
MED1 mediator complex subunit 1
MESP1 mesoderm posterior basic helix-loop-helix transcription factor 1
MTHFD1L methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like
NELL1 NEL-like 1 (chicken)
NF1 neurofibromin 1
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NIPBL Nipped-B homolog (Drosophila)
OTULIN OTU deubiquitinase with linear linkage specificity
OTX2 orthodenticle homeobox 2
PAH phenylalanine hydroxylase
PDS5B PDS5 cohesin associated factor B
PEX2 peroxisomal biogenesis factor 2
PGAP1 post-GPI attachment to proteins 1
PGAP3 post-GPI attachment to proteins 3
PRICKLE1 prickle homolog 1 (Drosophila)
PRRX1 paired related homeobox 1
PTEN phosphatase and tensin homolog
PTPRJ protein tyrosine phosphatase, receptor type, J
RPS6KA6 ribosomal protein S6 kinase, 90kDa, polypeptide 6
RYK receptor-like tyrosine kinase
SATB2 SATB homeobox 2
SFN stratifin
SHH sonic hedgehog
SLC25A19 solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
SLC6A4 solute carrier family 6 (neurotransmitter transporter), member 4
SMAD2 SMAD family member 2
SMARCA1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
SOCS7 suppressor of cytokine signaling 7
SPAG6 sperm associated antigen 6
SSBP3 single stranded DNA binding protein 3
SUFU suppressor of fused homolog (Drosophila)
TCOF1 Treacher Collins-Franceschetti syndrome 1
TGIF1 TGFB-induced factor homeobox 1
TMEM67 transmembrane protein 67
TTN titin
XPNPEP1 X-prolyl aminopeptidase (aminopeptidase P) 1, soluble
ZIC2 Zic family member 2
ZIC5 Zic family member 5