skin edema Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description accumulation of an excessive amount of fluid in the skin layers or just underneath the skin (Mammalian Phenotype Ontology, MP_0001786)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0001786
Similar Terms
Downloads & Tools

Genes

45 gene mutations causing the skin edema phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ANGPT2 angiopoietin 2
ATE1 arginyltransferase 1
CLEC1B C-type lectin domain family 1, member B
DNM1L dynamin 1-like
DSG4 desmoglein 4
FASLG Fas ligand (TNF superfamily, member 6)
FLG filaggrin
FLVCR1 feline leukemia virus subgroup C cellular receptor 1
GLI3 GLI family zinc finger 3
GNAS GNAS complex locus
JMJD6 jumonji domain containing 6
KAT6A K(lysine) acetyltransferase 6A
KMT2A lysine (K)-specific methyltransferase 2A
LPAR4 lysophosphatidic acid receptor 4
MECOM MDS1 and EVI1 complex locus
MME membrane metallo-endopeptidase
MORF4L1 mortality factor 4 like 1
NEU1 sialidase 1 (lysosomal sialidase)
NFKBIZ nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta
NOTCH2 notch 2
NPRL3 nitrogen permease regulator-like 3 (S. cerevisiae)
PAK1IP1 PAK1 interacting protein 1
PBX1 pre-B-cell leukemia homeobox 1
PDGFB platelet-derived growth factor beta polypeptide
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PKD1 polycystic kidney disease 1 (autosomal dominant)
PLVAP plasmalemma vesicle associated protein
PPP1R13B protein phosphatase 1, regulatory subunit 13B
PSEN1 presenilin 1
RB1 retinoblastoma 1
RELB v-rel avian reticuloendotheliosis viral oncogene homolog B
RUNX1 runt-related transcription factor 1
RXRA retinoid X receptor, alpha
RYR1 ryanodine receptor 1 (skeletal)
SC5D sterol-C5-desaturase
SHARPIN SHANK-associated RH domain interactor
SMAD7 SMAD family member 7
SOS1 son of sevenless homolog 1 (Drosophila)
SOX18 SRY (sex determining region Y)-box 18
TAL1 T-cell acute lymphocytic leukemia 1
TBK1 TANK-binding kinase 1
TBX1 T-box 1
TIE1 tyrosine kinase with immunoglobulin-like and EGF-like domains 1
XPA xeroderma pigmentosum, complementation group A
ZFPM2 zinc finger protein, FOG family member 2