micrognathia Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Developmental hypoplasia of the mandible. (Human Phenotype Ontology, HP_0000347)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0002639
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Genes

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

Symbol Name
AP2B1 adaptor-related protein complex 2, beta 1 subunit
ATMIN ATM interactor
ATR ATR serine/threonine kinase
BAZ1B bromodomain adjacent to zinc finger domain, 1B
CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit
CCDC39 coiled-coil domain containing 39
CEP290 centrosomal protein 290kDa
CYP26B1 cytochrome P450, family 26, subfamily B, polypeptide 1
CYP51A1 cytochrome P450, family 51, subfamily A, polypeptide 1
DCTN5 dynactin 5 (p25)
DHRS3 dehydrogenase/reductase (SDR family) member 3
DLX5 distal-less homeobox 5
DNAH11 dynein, axonemal, heavy chain 11
DNAH5 dynein, axonemal, heavy chain 5
DNAI1 dynein, axonemal, intermediate chain 1
DRC1 dynein regulatory complex subunit 1
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
FBLN1 fibulin 1
HSPB11 heat shock protein family B (small), member 11
IFT27 intraflagellar transport 27
ITGB1 integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)
KAT6A K(lysine) acetyltransferase 6A
LMNA lamin A/C
LRP2 low density lipoprotein receptor-related protein 2
MKS1 Meckel syndrome, type 1
MYH10 myosin, heavy chain 10, non-muscle
NABP2 nucleic acid binding protein 2
OTULIN OTU deubiquitinase with linear linkage specificity
OTX2 orthodenticle homeobox 2
PGAP1 post-GPI attachment to proteins 1
PITX1 paired-like homeodomain 1
PKD1 polycystic kidney disease 1 (autosomal dominant)
PRDM16 PR domain containing 16
PRICKLE1 prickle homolog 1 (Drosophila)
PTK7 protein tyrosine kinase 7 (inactive)
ROBO1 roundabout, axon guidance receptor, homolog 1 (Drosophila)
SATB2 SATB homeobox 2
SC5D sterol-C5-desaturase
SH3PXD2B SH3 and PX domains 2B
SIX1 SIX homeobox 1
SLC27A4 solute carrier family 27 (fatty acid transporter), member 4
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
SOX9 SRY (sex determining region Y)-box 9
SUFU suppressor of fused homolog (Drosophila)
TBX1 T-box 1
TRPS1 trichorhinophalangeal syndrome I
ZIC5 Zic family member 5
ZMPSTE24 zinc metallopeptidase STE24