pulmonary hypoplasia Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0001178
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Genes

44 gene mutations causing the pulmonary hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACAN aggrecan
ADAM17 ADAM metallopeptidase domain 17
BAG6 BCL2-associated athanogene 6
C5ORF42 chromosome 5 open reading frame 42
CBY1 chibby homolog 1 (Drosophila)
CELSR1 cadherin, EGF LAG seven-pass G-type receptor 1
COL2A1 collagen, type II, alpha 1
CTGF connective tissue growth factor
DHCR7 7-dehydrocholesterol reductase
FEN1 flap structure-specific endonuclease 1
FENDRR FOXF1 adjacent non-coding developmental regulatory RNA
FGF9 fibroblast growth factor 9
FUZ fuzzy planar cell polarity protein
GLI2 GLI family zinc finger 2
HBEGF heparin-binding EGF-like growth factor
IFT88 intraflagellar transport 88
KIF7 kinesin family member 7
LOX lysyl oxidase
MAPK6 mitogen-activated protein kinase 6
MKS1 Meckel syndrome, type 1
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
MYOG myogenin (myogenic factor 4)
NFIB nuclear factor I/B
NKX2-1 NK2 homeobox 1
NUBP1 nucleotide binding protein 1
PBX1 pre-B-cell leukemia homeobox 1
PCSK5 proprotein convertase subtilisin/kexin type 5
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PKD1 polycystic kidney disease 1 (autosomal dominant)
PRDM16 PR domain containing 16
PRRX1 paired related homeobox 1
RDH10 retinol dehydrogenase 10 (all-trans)
RSPO2 R-spondin 2
SHH sonic hedgehog
SOX11 SRY (sex determining region Y)-box 11
TBC1D32 TBC1 domain family, member 32
TCF21 transcription factor 21
TGFB3 transforming growth factor, beta 3
VANGL2 VANGL planar cell polarity protein 2
WDR35 WD repeat domain 35
WNT2 wingless-type MMTV integration site family member 2
WNT7B wingless-type MMTV integration site family, member 7B
ZFPM2 zinc finger protein, FOG family member 2