microcephaly Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description OMIM mapping confirmed by DO. [SN]. (Human Disease Ontology, DOID_10907)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000433
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61 gene mutations causing the microcephaly phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACVRL1 activin A receptor type II-like 1
APAF1 apoptotic peptidase activating factor 1
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
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
FRS2 fibroblast growth factor receptor substrate 2
GLI2 GLI family zinc finger 2
HES1 hes family bHLH transcription factor 1
HESX1 HESX homeobox 1
HUWE1 HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase
ITGAV integrin, alpha V
KIF14 kinesin family member 14
KIF20B kinesin family member 20B
KLF2 Kruppel-like factor 2
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
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
PRICKLE1 prickle homolog 1 (Drosophila)
PRRX1 paired related homeobox 1
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
SMAD2 SMAD family member 2
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
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