abnormal dermal layer morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly or atypical condition of the dermal layer of the skin (Mammalian Phenotype Ontology, MP_0001243)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0001243
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Genes

84 gene mutations causing the abnormal dermal layer morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACP2 acid phosphatase 2, lysosomal
ADAM17 ADAM metallopeptidase domain 17
APC adenomatous polyposis coli
ASL argininosuccinate lyase
BGN biglycan
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRD4 bromodomain containing 4
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
CBS cystathionine-beta-synthase
CD19 CD19 molecule
CDC42 cell division cycle 42
CDSN corneodesmosin
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
COL5A1 collagen, type V, alpha 1
COL5A2 collagen, type V, alpha 2
COL7A1 collagen, type VII, alpha 1
CST6 cystatin E/M
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CTSE cathepsin E
CTSV cathepsin V
CYP7A1 cytochrome P450, family 7, subfamily A, polypeptide 1
DCN decorin
DPT dermatopontin
DSG4 desmoglein 4
EDA ectodysplasin A
EDAR ectodysplasin A receptor
EDARADD EDAR-associated death domain
EGR1 early growth response 1
EMILIN1 elastin microfibril interfacer 1
FBN1 fibrillin 1
FGFR2 fibroblast growth factor receptor 2
FIGN fidgetin
FLT4 fms-related tyrosine kinase 4
HPGDS hematopoietic prostaglandin D synthase
HR hair growth associated
IL1RN interleukin 1 receptor antagonist
IL22 interleukin 22
ITGB2 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)
JAK1 Janus kinase 1
KRT4 keratin 4, type II
LMNA lamin A/C
LUM lumican
LYST lysosomal trafficking regulator
MIA3 melanoma inhibitory activity family, member 3
MPZL3 myelin protein zero-like 3
PLEC plectin
PNN pinin, desmosome associated protein
PORCN porcupine homolog (Drosophila)
PPP1R13L protein phosphatase 1, regulatory subunit 13 like
PTCH1 patched 1
PTCH2 patched 2
PTGDR prostaglandin D2 receptor (DP)
PTGDS prostaglandin D2 synthase 21kDa (brain)
PTGES3 prostaglandin E synthase 3 (cytosolic)
RABGEF1 RAB guanine nucleotide exchange factor (GEF) 1
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RAG1 recombination activating gene 1
RASSF9 Ras association (RalGDS/AF-6) domain family (N-terminal) member 9
RELB v-rel avian reticuloendotheliosis viral oncogene homolog B
RGN regucalcin
RIPK1 receptor (TNFRSF)-interacting serine-threonine kinase 1
RUNX2 runt-related transcription factor 2
RXRA retinoid X receptor, alpha
RYR1 ryanodine receptor 1 (skeletal)
SCD stearoyl-CoA desaturase (delta-9-desaturase)
SCG5 secretogranin V
SHARPIN SHANK-associated RH domain interactor
SHH sonic hedgehog
SLC39A13 solute carrier family 39 (zinc transporter), member 13
SOAT1 sterol O-acyltransferase 1
SOCS2 suppressor of cytokine signaling 2
TBK1 TANK-binding kinase 1
TGFA transforming growth factor, alpha
THBS1 thrombospondin 1
TNFAIP3 tumor necrosis factor, alpha-induced protein 3
TP53 tumor protein p53
TRAF6 TNF receptor-associated factor 6, E3 ubiquitin protein ligase
TTC7A tetratricopeptide repeat domain 7A
TWIST2 twist family bHLH transcription factor 2
UROS uroporphyrinogen III synthase
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
ZAP70 zeta-chain (TCR) associated protein kinase 70kDa
ZDHHC13 zinc finger, DHHC-type containing 13