abnormal skin appearance Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description anomaly in the visual aspect of the skin (Mammalian Phenotype Ontology, MP_0009931)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0009931
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Genes

340 gene mutations causing the abnormal skin appearance phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12
ADRBK1 adrenergic, beta, receptor kinase 1
AEBP1 AE binding protein 1
AGO2 argonaute RISC catalytic component 2
AHR aryl hydrocarbon receptor
AIP aryl hydrocarbon receptor interacting protein
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALAS2 5'-aminolevulinate synthase 2
ALOX12B arachidonate 12-lipoxygenase, 12R type
ANGPT2 angiopoietin 2
ANK1 ankyrin 1, erythrocytic
APOE apolipoprotein E
AQP2 aquaporin 2 (collecting duct)
ARAP3 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3
ARID3A AT rich interactive domain 3A (BRIGHT-like)
ASPRV1 aspartic peptidase, retroviral-like 1
ASS1 argininosuccinate synthase 1
ATE1 arginyltransferase 1
ATOX1 antioxidant 1 copper chaperone
AVPR2 arginine vasopressin receptor 2
B4GALT1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
BHLHE22 basic helix-loop-helix family, member e22
BIRC6 baculoviral IAP repeat containing 6
BLM Bloom syndrome, RecQ helicase-like
BLMH bleomycin hydrolase
BRD1 bromodomain containing 1
C8ORF44-SGK3 C8orf44-SGK3 readthrough
CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CASP14 caspase 14, apoptosis-related cysteine peptidase
CBFB core-binding factor, beta subunit
CBS cystathionine-beta-synthase
CCBE1 collagen and calcium binding EGF domains 1
CDH1 cadherin 1, type 1, E-cadherin (epithelial)
CDH5 cadherin 5, type 2 (vascular endothelium)
CEBPA CCAAT/enhancer binding protein (C/EBP), alpha
CEBPB CCAAT/enhancer binding protein (C/EBP), beta
CERS3 ceramide synthase 3
CHD2 chromodomain helicase DNA binding protein 2
CHUK conserved helix-loop-helix ubiquitous kinase
CLDN1 claudin 1
CLDN7 claudin 7
CLIC4 chloride intracellular channel 4
COL17A1 collagen, type XVII, alpha 1
COL3A1 collagen, type III, alpha 1
COL5A2 collagen, type V, alpha 2
COL7A1 collagen, type VII, alpha 1
CREBBP CREB binding protein
CRIM1 cysteine rich transmembrane BMP regulator 1 (chordin-like)
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
CST6 cystatin E/M
CTSE cathepsin E
CTSV cathepsin V
CUL4B cullin 4B
CYP7A1 cytochrome P450, family 7, subfamily A, polypeptide 1
DBT dihydrolipoamide branched chain transacylase E2
DCN decorin
DEGS1 delta(4)-desaturase, sphingolipid 1
DGAT1 diacylglycerol O-acyltransferase 1
DGAT2 diacylglycerol O-acyltransferase 2
DLGAP3 discs, large (Drosophila) homolog-associated protein 3
DPT dermatopontin
DSC1 desmocollin 1
DSG3 desmoglein 3
DSG4 desmoglein 4
DST dystonin
E2F2 E2F transcription factor 2
E2F4 E2F transcription factor 4, p107/p130-binding
EBP emopamil binding protein (sterol isomerase)
EDARADD EDAR-associated death domain
EFEMP1 EGF containing fibulin-like extracellular matrix protein 1
ELOVL1 ELOVL fatty acid elongase 1
ELOVL4 ELOVL fatty acid elongase 4
EN1 engrailed homeobox 1
EPO erythropoietin
ERCC2 excision repair cross-complementation group 2
ERN1 endoplasmic reticulum to nucleus signaling 1
ERP44 endoplasmic reticulum protein 44
ERRFI1 ERBB receptor feedback inhibitor 1
F2 coagulation factor II (thrombin)
F3 coagulation factor III (thromboplastin, tissue factor)
F5 coagulation factor V (proaccelerin, labile factor)
FADS2 fatty acid desaturase 2
FAS Fas cell surface death receptor
FBLN5 fibulin 5
FBN1 fibrillin 1
FBXO45 F-box protein 45
FBXW7 F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase
FERMT3 fermitin family member 3
FES FES proto-oncogene, tyrosine kinase
FGF10 fibroblast growth factor 10
FGF9 fibroblast growth factor 9
FGFR2 fibroblast growth factor receptor 2
FKBP1A FK506 binding protein 1A, 12kDa
FLG filaggrin
FN1 fibronectin 1
FOXN1 forkhead box N1
FOXP3 forkhead box P3
FRAS1 Fraser extracellular matrix complex subunit 1
FREM1 FRAS1 related extracellular matrix 1
FREM2 FRAS1 related extracellular matrix protein 2
FSHR follicle stimulating hormone receptor
FST follistatin
GATA1 GATA binding protein 1 (globin transcription factor 1)
GATA4 GATA binding protein 4
GBA glucosidase, beta, acid
GFI1B growth factor independent 1B transcription repressor
GLI3 GLI family zinc finger 3
GNA13 guanine nucleotide binding protein (G protein), alpha 13
GNAS GNAS complex locus
GRHL3 grainyhead-like 3 (Drosophila)
GRIP1 glutamate receptor interacting protein 1
GSC goosecoid homeobox
GTF2IRD1 GTF2I repeat domain containing 1
HAP1 huntingtin-associated protein 1
HK1 hexokinase 1
HLX H2.0-like homeobox
HOXB4 homeobox B4
HOXB8 homeobox B8
HR hair growth associated
HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
HSPA5 heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)
ICMT isoprenylcysteine carboxyl methyltransferase
IFNE interferon, epsilon
IGF1R insulin-like growth factor 1 receptor
IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IKZF1 IKAROS family zinc finger 1 (Ikaros)
IL1RN interleukin 1 receptor antagonist
IL36RN interleukin 36 receptor antagonist
ILK integrin-linked kinase
IRF2 interferon regulatory factor 2
IRF6 interferon regulatory factor 6
ITGA6 integrin, alpha 6
ITGB1 integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)
ITGB2 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)
ITGB4 integrin, beta 4
JAK1 Janus kinase 1
JAK2 Janus kinase 2
JMJD6 jumonji domain containing 6
JUP junction plakoglobin
KAT6A K(lysine) acetyltransferase 6A
KCNJ1 potassium channel, inwardly rectifying subfamily J, member 1
KDF1 keratinocyte differentiation factor 1
KEAP1 kelch-like ECH-associated protein 1
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KITLG KIT ligand
KLF1 Kruppel-like factor 1 (erythroid)
KLF6 Kruppel-like factor 6
KRAS Kirsten rat sarcoma viral oncogene homolog
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
KRT9 keratin 9, type I
KSR1 kinase suppressor of ras 1
LAMA3 laminin, alpha 3
LAMA4 laminin, alpha 4
LAMB3 laminin, beta 3
LAMC2 laminin, gamma 2
LBR lamin B receptor
LDLR low density lipoprotein receptor
LHX2 LIM homeobox 2
LIG1 ligase I, DNA, ATP-dependent
LMF1 lipase maturation factor 1
LMNA lamin A/C
LMO2 LIM domain only 2 (rhombotin-like 1)
LMO4 LIM domain only 4
LMX1A LIM homeobox transcription factor 1, alpha
LOR loricrin
LOXL1 lysyl oxidase-like 1
LPL lipoprotein lipase
LRIG1 leucine-rich repeats and immunoglobulin-like domains 1
LSR lipolysis stimulated lipoprotein receptor
LUM lumican
MAEA macrophage erythroblast attacher
MAP2K4 mitogen-activated protein kinase kinase 4
MAP3K11 mitogen-activated protein kinase kinase kinase 11
MAPK14 mitogen-activated protein kinase 14
MAPK7 mitogen-activated protein kinase 7
MDM4 MDM4, p53 regulator
MECP2 methyl CpG binding protein 2
MED31 mediator complex subunit 31
MEFV Mediterranean fever
MEIS1 Meis homeobox 1
MGAT1 mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MIR205 microRNA 205
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MORF4L1 mortality factor 4 like 1
MPZL3 myelin protein zero-like 3
MTA1 metastasis associated 1
MTA2 metastasis associated 1 family, member 2
MYB v-myb avian myeloblastosis viral oncogene homolog
MYBL1 v-myb avian myeloblastosis viral oncogene homolog-like 1
MYH11 myosin, heavy chain 11, smooth muscle
NAGLU N-acetylglucosaminidase, alpha
NCF1 neutrophil cytosolic factor 1
NCOA6 nuclear receptor coactivator 6
NCOR1 nuclear receptor corepressor 1
NEIL1 nei endonuclease VIII-like 1 (E. coli)
NF1 neurofibromin 1
NFATC1 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1
NFE2 nuclear factor, erythroid 2
NFE2L1 nuclear factor, erythroid 2-like 1
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
NPM1 nucleophosmin (nucleolar phosphoprotein B23, numatrin)
NPRL3 nitrogen permease regulator-like 3 (S. cerevisiae)
NSDHL NAD(P) dependent steroid dehydrogenase-like
NTRK1 neurotrophic tyrosine kinase, receptor, type 1
OED Oregon eye disease
OTC ornithine carbamoyltransferase
P4HA1 prolyl 4-hydroxylase, alpha polypeptide I
PAK4 p21 protein (Cdc42/Rac)-activated kinase 4
PAXIP1 PAX interacting (with transcription-activation domain) protein 1
PBX1 pre-B-cell leukemia homeobox 1
PCCA propionyl CoA carboxylase, alpha polypeptide
PCK1 phosphoenolpyruvate carboxykinase 1 (soluble)
PDCD10 programmed cell death 10
PDGFC platelet derived growth factor C
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PDPN podoplanin
PDS5B PDS5 cohesin associated factor B
PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
PINX1 PIN2/TERF1 interacting, telomerase inhibitor 1
PKD1 polycystic kidney disease 1 (autosomal dominant)
PKNOX1 PBX/knotted 1 homeobox 1
PKP3 plakophilin 3
PLAGL1 pleiomorphic adenoma gene-like 1
PLCB3 phospholipase C, beta 3 (phosphatidylinositol-specific)
PLEC plectin
PLK2 polo-like kinase 2
PLOD3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
PLVAP plasmalemma vesicle associated protein
PNPLA6 patatin-like phospholipase domain containing 6
POLB polymerase (DNA directed), beta
PORCN porcupine homolog (Drosophila)
POU2F1 POU class 2 homeobox 1
POU3F2 POU class 3 homeobox 2
PPIB peptidylprolyl isomerase B (cyclophilin B)
PPM1D protein phosphatase, Mg2+/Mn2+ dependent, 1D
PPP1R15B protein phosphatase 1, regulatory subunit 15B
PRDM6 PR domain containing 6
PRDM8 PR domain containing 8
PRKDC protein kinase, DNA-activated, catalytic polypeptide
PROS1 protein S (alpha)
PRSS8 protease, serine, 8
PSEN1 presenilin 1
PSTPIP2 proline-serine-threonine phosphatase interacting protein 2
PTCH2 patched 2
PTGER4 prostaglandin E receptor 4 (subtype EP4)
PTGES3 prostaglandin E synthase 3 (cytosolic)
PTPN6 protein tyrosine phosphatase, non-receptor type 6
PTPRB protein tyrosine phosphatase, receptor type, B
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RAG1 recombination activating gene 1
RAPGEF2 Rap guanine nucleotide exchange factor (GEF) 2
RARG retinoic acid receptor, gamma
RASA3 RAS p21 protein activator 3
RASIP1 Ras interacting protein 1
RB1 retinoblastoma 1
RB1CC1 RB1-inducible coiled-coil 1
RBL1 retinoblastoma-like 1
RECQL4 RecQ protein-like 4
RELB v-rel avian reticuloendotheliosis viral oncogene homolog B
RHBDF1 rhomboid 5 homolog 1 (Drosophila)
RUNX1T1 runt-related transcription factor 1; translocated to, 1 (cyclin D-related)
RXRA retinoid X receptor, alpha
RYR1 ryanodine receptor 1 (skeletal)
SCD stearoyl-CoA desaturase (delta-9-desaturase)
SCG5 secretogranin V
SCN11A sodium channel, voltage gated, type XI alpha subunit
SCNN1G sodium channel, non voltage gated 1 gamma subunit
SENP1 SUMO1/sentrin specific peptidase 1
SFN stratifin
SHANK3 SH3 and multiple ankyrin repeat domains 3
SHARPIN SHANK-associated RH domain interactor
SLC11A2 solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2
SLC19A1 solute carrier family 19 (folate transporter), member 1
SLC20A1 solute carrier family 20 (phosphate transporter), member 1
SLC25A37 solute carrier family 25 (mitochondrial iron transporter), member 37
SLC27A4 solute carrier family 27 (fatty acid transporter), member 4
SLC30A4 solute carrier family 30 (zinc transporter), member 4
SLC39A2 solute carrier family 39 (zinc transporter), member 2
SLC40A1 solute carrier family 40 (iron-regulated transporter), member 1
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
SLC4A4 solute carrier family 4 (sodium bicarbonate cotransporter), member 4
SLITRK5 SLIT and NTRK-like family, member 5
SMAD7 SMAD family member 7
SNAP25 synaptosomal-associated protein, 25kDa
SOCS3 suppressor of cytokine signaling 3
SOD2 superoxide dismutase 2, mitochondrial
SP6 Sp6 transcription factor
SPEN spen family transcriptional repressor
SPINK5 serine peptidase inhibitor, Kazal type 5
SPTA1 spectrin, alpha, erythrocytic 1
ST14 suppression of tumorigenicity 14 (colon carcinoma)
STAT6 signal transducer and activator of transcription 6, interleukin-4 induced
T T, brachyury homolog (mouse)
TAB2 TGF-beta activated kinase 1/MAP3K7 binding protein 2
TAL1 T-cell acute lymphocytic leukemia 1
TBK1 TANK-binding kinase 1
TCEB3 transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)
TCF15 transcription factor 15 (basic helix-loop-helix)
TCF21 transcription factor 21
TFAP2B transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
TFPI tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)
TFRC transferrin receptor
TGM1 transglutaminase 1
TLL1 tolloid-like 1
TMOD3 tropomodulin 3 (ubiquitous)
TMPRSS6 transmembrane protease, serine 6
TNF tumor necrosis factor
TNIP1 TNFAIP3 interacting protein 1
TNRC6A trinucleotide repeat containing 6A
TOM1L2 target of myb1-like 2 (chicken)
TP53 tumor protein p53
TP63 tumor protein p63
TPH1 tryptophan hydroxylase 1
TRAF6 TNF receptor-associated factor 6, E3 ubiquitin protein ligase
TRIM71 tripartite motif containing 71, E3 ubiquitin protein ligase
TRPV3 transient receptor potential cation channel, subfamily V, member 3
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
TTC7A tetratricopeptide repeat domain 7A
TULP3 tubby like protein 3
TWIST2 twist family bHLH transcription factor 2
WNT7A wingless-type MMTV integration site family, member 7A
XBP1 X-box binding protein 1
XIRP2 xin actin binding repeat containing 2
XPA xeroderma pigmentosum, complementation group A
YBX1 Y box binding protein 1
YY1 YY1 transcription factor
ZDHHC13 zinc finger, DHHC-type containing 13
ZFP36L2 ZFP36 ring finger protein-like 2
ZFPM1 zinc finger protein, FOG family member 1
ZFPM2 zinc finger protein, FOG family member 2
ZMIZ1 zinc finger, MIZ-type containing 1
ZNF148 zinc finger protein 148