abnormal epidermal layer morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the superficial epithelial portion of the skin (Mammalian Phenotype Ontology, MP_0001216)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0001216
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Genes

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

Symbol Name
ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4
ABHD5 abhydrolase domain containing 5
ACP2 acid phosphatase 2, lysosomal
AHR aryl hydrocarbon receptor
ALOX12B arachidonate 12-lipoxygenase, 12R type
ALOXE3 arachidonate lipoxygenase 3
ASB1 ankyrin repeat and SOCS box containing 1
ASL argininosuccinate lyase
ASS1 argininosuccinate synthase 1
ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
ATR ATR serine/threonine kinase
B4GALT1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
BCL11B B-cell CLL/lymphoma 11B (zinc finger protein)
BDNF brain-derived neurotrophic factor
BLMH bleomycin hydrolase
BRCA2 breast cancer 2, early onset
BRD4 bromodomain containing 4
C8ORF44-SGK3 C8orf44-SGK3 readthrough
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CASP14 caspase 14, apoptosis-related cysteine peptidase
CAV1 caveolin 1, caveolae protein, 22kDa
CBS cystathionine-beta-synthase
CD109 CD109 molecule
CD34 CD34 molecule
CD44 CD44 molecule (Indian blood group)
CDC42 cell division cycle 42
CDK11A cyclin-dependent kinase 11A
CDSN corneodesmosin
CERS3 ceramide synthase 3
CHUK conserved helix-loop-helix ubiquitous kinase
CISD2 CDGSH iron sulfur domain 2
CLDN1 claudin 1
COL17A1 collagen, type XVII, alpha 1
COL7A1 collagen, type VII, alpha 1
CREB3L1 cAMP responsive element binding protein 3-like 1
CRH corticotropin releasing hormone
CST6 cystatin E/M
CTSE cathepsin E
CTSV cathepsin V
CYLD cylindromatosis (turban tumor syndrome)
CYP26B1 cytochrome P450, family 26, subfamily B, polypeptide 1
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
CYP7A1 cytochrome P450, family 7, subfamily A, polypeptide 1
DGAT1 diacylglycerol O-acyltransferase 1
DGAT2 diacylglycerol O-acyltransferase 2
DKC1 dyskeratosis congenita 1, dyskerin
DOPEY2 dopey family member 2
DSC1 desmocollin 1
DSG3 desmoglein 3
DSG4 desmoglein 4
EBP emopamil binding protein (sterol isomerase)
EDARADD EDAR-associated death domain
EGFR epidermal growth factor receptor
ELOVL1 ELOVL fatty acid elongase 1
ELOVL3 ELOVL fatty acid elongase 3
ELOVL4 ELOVL fatty acid elongase 4
ERCC2 excision repair cross-complementation group 2
ERCC3 excision repair cross-complementation group 3
ERRFI1 ERBB receptor feedback inhibitor 1
ESR2 estrogen receptor 2 (ER beta)
EVPL envoplakin
FAS Fas cell surface death receptor
FERMT1 fermitin family member 1
FGF10 fibroblast growth factor 10
FGFR2 fibroblast growth factor receptor 2
FLG filaggrin
FOXN1 forkhead box N1
FOXP3 forkhead box P3
FREM1 FRAS1 related extracellular matrix 1
FST follistatin
GAB1 GRB2-associated binding protein 1
GBA glucosidase, beta, acid
GJA1 gap junction protein, alpha 1, 43kDa
GJB3 gap junction protein, beta 3, 31kDa
GJB6 gap junction protein, beta 6, 30kDa
GLI3 GLI family zinc finger 3
GRHL1 grainyhead-like 1 (Drosophila)
GRHL3 grainyhead-like 3 (Drosophila)
GTF2IRD1 GTF2I repeat domain containing 1
HBEGF heparin-binding EGF-like growth factor
HELLS helicase, lymphoid-specific
HIRA histone cell cycle regulator
HOXA13 homeobox A13
HR hair growth associated
IGF1R insulin-like growth factor 1 receptor
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IL17C interleukin 17C
IL1RN interleukin 1 receptor antagonist
IL22 interleukin 22
IL22RA1 interleukin 22 receptor, alpha 1
IL36RN interleukin 36 receptor antagonist
ILK integrin-linked kinase
IRF2 interferon regulatory factor 2
IRF6 interferon regulatory factor 6
ITGB2 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)
ITGB4 integrin, beta 4
ITGB5 integrin, beta 5
ITPA inosine triphosphatase (nucleoside triphosphate pyrophosphatase)
JAG2 jagged 2
JUP junction plakoglobin
KDF1 keratinocyte differentiation factor 1
KEAP1 kelch-like ECH-associated protein 1
KL klotho
KLF4 Kruppel-like factor 4 (gut)
KRT1 keratin 1, type II
KRT10 keratin 10, type I
KRT14 keratin 14, type I
KRT16 keratin 16, type I
KRT2 keratin 2, type II
KRT5 keratin 5, type II
KRT6B keratin 6B, type II
KRT76 keratin 76, type II
KRT9 keratin 9, type I
LAMA3 laminin, alpha 3
LAMC2 laminin, gamma 2
LBR lamin B receptor
LEP leptin
LMNA lamin A/C
LOR loricrin
LRIG1 leucine-rich repeats and immunoglobulin-like domains 1
MAP3K1 mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase
MAP3K11 mitogen-activated protein kinase kinase kinase 11
MAPK8 mitogen-activated protein kinase 8
MAPK9 mitogen-activated protein kinase 9
MIR205 microRNA 205
MORF4L1 mortality factor 4 like 1
MPV17 MpV17 mitochondrial inner membrane protein
MPZL3 myelin protein zero-like 3
MTA2 metastasis associated 1 family, member 2
MYO6 myosin VI
NCOA6 nuclear receptor coactivator 6
NEU1 sialidase 1 (lysosomal sialidase)
NFKBIA nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha
NFKBIZ nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta
NR1H2 nuclear receptor subfamily 1, group H, member 2
NSDHL NAD(P) dependent steroid dehydrogenase-like
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
OXR1 oxidation resistance 1
PAQR3 progestin and adipoQ receptor family member III
PBK PDZ binding kinase
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PFN1 profilin 1
PKP3 plakophilin 3
PLCD1 phospholipase C, delta 1
PLCL1 phospholipase C-like 1
PLEC plectin
PLOD3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
PORCN porcupine homolog (Drosophila)
POU2F3 POU class 2 homeobox 3
POU3F2 POU class 3 homeobox 2
PPARA peroxisome proliferator-activated receptor alpha
PPARD peroxisome proliferator-activated receptor delta
PPP1R13L protein phosphatase 1, regulatory subunit 13 like
PRKCA protein kinase C, alpha
PRKCH protein kinase C, eta
PRMT2 protein arginine methyltransferase 2
PRSS8 protease, serine, 8
PSTPIP2 proline-serine-threonine phosphatase interacting protein 2
PTCH2 patched 2
PTGES3 prostaglandin E synthase 3 (cytosolic)
PTGS1 prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
PTHLH parathyroid hormone-like hormone
RABGEF1 RAB guanine nucleotide exchange factor (GEF) 1
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RAG1 recombination activating gene 1
RARG retinoic acid receptor, gamma
RASSF9 Ras association (RalGDS/AF-6) domain family (N-terminal) member 9
RELA v-rel avian reticuloendotheliosis viral oncogene homolog A
RELB v-rel avian reticuloendotheliosis viral oncogene homolog B
RGN regucalcin
RIPK4 receptor-interacting serine-threonine kinase 4
ROCK1 Rho-associated, coiled-coil containing protein kinase 1
RPGRIP1L RPGRIP1-like
RUNX2 runt-related transcription factor 2
RXRA retinoid X receptor, alpha
SAV1 salvador family WW domain containing protein 1
SCD stearoyl-CoA desaturase (delta-9-desaturase)
SCG5 secretogranin V
SFN stratifin
SGPP1 sphingosine-1-phosphate phosphatase 1
SHARPIN SHANK-associated RH domain interactor
SHH sonic hedgehog
SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter)
SLC27A4 solute carrier family 27 (fatty acid transporter), member 4
SLC30A4 solute carrier family 30 (zinc transporter), member 4
SLC9A1 solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1
SMN1 survival of motor neuron 1, telomeric
SNIP1 Smad nuclear interacting protein 1
SOCS1 suppressor of cytokine signaling 1
SOX21 SRY (sex determining region Y)-box 21
SP6 Sp6 transcription factor
SPINK5 serine peptidase inhibitor, Kazal type 5
ST14 suppression of tumorigenicity 14 (colon carcinoma)
STAT6 signal transducer and activator of transcription 6, interleukin-4 induced
SUFU suppressor of fused homolog (Drosophila)
SYNE2 spectrin repeat containing, nuclear envelope 2
T T, brachyury homolog (mouse)
TBK1 TANK-binding kinase 1
TGM1 transglutaminase 1
TMC6 transmembrane channel-like 6
TMEM79 transmembrane protein 79
TMPO thymopoietin
TNFAIP3 tumor necrosis factor, alpha-induced protein 3
TP63 tumor protein p63
TRAF3IP2 TRAF3 interacting protein 2
TRAF3IP3 TRAF3 interacting protein 3
TRPV3 transient receptor potential cation channel, subfamily V, member 3
TTC7A tetratricopeptide repeat domain 7A
TWIST2 twist family bHLH transcription factor 2
UROS uroporphyrinogen III synthase
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
WDR1 WD repeat domain 1
WDR37 WD repeat domain 37
XPA xeroderma pigmentosum, complementation group A
XPC xeroderma pigmentosum, complementation group C
ZDHHC13 zinc finger, DHHC-type containing 13
ZDHHC21 zinc finger, DHHC-type containing 21
ZMPSTE24 zinc metallopeptidase STE24