abnormal hypodermis morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the irregular layer of loose connective tissue containing fibroblasts, adipose cells, and macrophages, that is immediately deep to the skin and superficial to the deep fascia; usually consisting primarily of a fatty layer and may also include a muscle layer and/or a fibrous layer, or it may occur as a membranous layer only, being nearly devoid of fat; it contains skin ligaments extending between the dermis and deep fascia, cutaneous nerves, and superficial vessels, with terminal branches passing into the skin layers (Mammalian Phenotype Ontology, MP_0003705)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0003705
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Genes

92 gene mutations causing the abnormal hypodermis morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACACB acetyl-CoA carboxylase beta
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
AKT1 v-akt murine thymoma viral oncogene homolog 1
ANGPTL2 angiopoietin-like 2
ARHGAP1 Rho GTPase activating protein 1
ARHGAP5 Rho GTPase activating protein 5
ARNTL aryl hydrocarbon receptor nuclear translocator-like
B4GALT1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
BAG3 BCL2-associated athanogene 3
BRCA1 breast cancer 1, early onset
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
CAV1 caveolin 1, caveolae protein, 22kDa
CBS cystathionine-beta-synthase
CBY1 chibby homolog 1 (Drosophila)
CCDC57 coiled-coil domain containing 57
CDKAL1 CDK5 regulatory subunit associated protein 1-like 1
CHD2 chromodomain helicase DNA binding protein 2
CIDEC cell death-inducing DFFA-like effector c
CISD2 CDGSH iron sulfur domain 2
CNOT3 CCR4-NOT transcription complex, subunit 3
COL5A2 collagen, type V, alpha 2
COL5A3 collagen, type V, alpha 3
CSF2 colony stimulating factor 2 (granulocyte-macrophage)
DGAT2 diacylglycerol O-acyltransferase 2
DHCR24 24-dehydrocholesterol reductase
DSE dermatan sulfate epimerase
DSG4 desmoglein 4
EBF1 early B-cell factor 1
EFEMP1 EGF containing fibulin-like extracellular matrix protein 1
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2
ERCC1 excision repair cross-complementation group 1
EWSR1 EWS RNA-binding protein 1
FABP5 fatty acid binding protein 5 (psoriasis-associated)
FBN1 fibrillin 1
FGFR2 fibroblast growth factor receptor 2
GABBR1 gamma-aminobutyric acid (GABA) B receptor, 1
GATM glycine amidinotransferase (L-arginine:glycine amidinotransferase)
GNAS GNAS complex locus
GUCY2C guanylate cyclase 2C
HELLS helicase, lymphoid-specific
HNF1A HNF1 homeobox A
HR hair growth associated
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
INS insulin
INSIG1 insulin induced gene 1
KCNJ11 potassium channel, inwardly rectifying subfamily J, member 11
KL klotho
KRT71 keratin 71, type II
LBR lamin B receptor
LEF1 lymphoid enhancer-binding factor 1
LIPA lipase A, lysosomal acid, cholesterol esterase
LIPE lipase, hormone-sensitive
LMNA lamin A/C
MAPK8 mitogen-activated protein kinase 8
MBD5 methyl-CpG binding domain protein 5
MCOLN1 mucolipin 1
MIR378A microRNA 378a
MPV17 MpV17 mitochondrial inner membrane protein
OSMR oncostatin M receptor
PDYN prodynorphin
PGF placental growth factor
PHF2 PHD finger protein 2
PLIN1 perilipin 1
PLIN2 perilipin 2
POLG polymerase (DNA directed), gamma
POU3F2 POU class 3 homeobox 2
PPARD peroxisome proliferator-activated receptor delta
PPARG peroxisome proliferator-activated receptor gamma
RASSF9 Ras association (RalGDS/AF-6) domain family (N-terminal) member 9
RLN3 relaxin 3
SAMD4A sterile alpha motif domain containing 4A
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
SERTAD2 SERTA domain containing 2
SH3KBP1 SH3-domain kinase binding protein 1
SH3PXD2B SH3 and PX domains 2B
SIK3 SIK family kinase 3
SIRT6 sirtuin 6
SIRT7 sirtuin 7
SMTN smoothelin
SQSTM1 sequestosome 1
SRA1 steroid receptor RNA activator 1
SSFA2 sperm specific antigen 2
STEAP4 STEAP family member 4
TERF2IP telomeric repeat binding factor 2, interacting protein
TGFB1 transforming growth factor, beta 1
TK2 thymidine kinase 2, mitochondrial
TP53 tumor protein p53
TRPV1 transient receptor potential cation channel, subfamily V, member 1
TWIST2 twist family bHLH transcription factor 2
ZFP36 ZFP36 ring finger protein
ZMPSTE24 zinc metallopeptidase STE24