abnormal skin adnexa physiology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any functional anomaly of the tissue or structures associated with or embedded in the skin such as hair and hair follicles, sweat glands, sebaceous glands and claws or nails (Mammalian Phenotype Ontology, MP_0010680)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0010680
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Genes

120 gene mutations causing the abnormal skin adnexa physiology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
AGAP2 ArfGAP with GTPase domain, ankyrin repeat and PH domain 2
AGPAT6 1-acylglycerol-3-phosphate O-acyltransferase 6
AREG amphiregulin
ARNTL aryl hydrocarbon receptor nuclear translocator-like
ATP7B ATPase, Cu++ transporting, beta polypeptide
B4GALT1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
BARX2 BARX homeobox 2
BDNF brain-derived neurotrophic factor
BRCA1 breast cancer 1, early onset
BSX brain-specific homeobox
BTN1A1 butyrophilin, subfamily 1, member A1
C17ORF62 chromosome 17 open reading frame 62
C8ORF44-SGK3 C8orf44-SGK3 readthrough
CAV1 caveolin 1, caveolae protein, 22kDa
CCND1 cyclin D1
CCNE1 cyclin E1
CCR10 chemokine (C-C motif) receptor 10
CEBPB CCAAT/enhancer binding protein (C/EBP), beta
CEBPD CCAAT/enhancer binding protein (C/EBP), delta
CHUK conserved helix-loop-helix ubiquitous kinase
CLOCK clock circadian regulator
CSF1 colony stimulating factor 1 (macrophage)
CSN1S1 casein alpha s1
CSN2 casein beta
CSN3 casein kappa
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CTSV cathepsin V
DDR1 discoidin domain receptor tyrosine kinase 1
DGAT1 diacylglycerol O-acyltransferase 1
DSG3 desmoglein 3
DSG4 desmoglein 4
EDA ectodysplasin A
EDAR ectodysplasin A receptor
EGFR epidermal growth factor receptor
ELF5 E74-like factor 5 (ets domain transcription factor)
ELOVL3 ELOVL fatty acid elongase 3
ERBB3 erb-b2 receptor tyrosine kinase 3
ESR2 estrogen receptor 2 (ER beta)
FARP2 FERM, RhoGEF and pleckstrin domain protein 2
FGF10 fibroblast growth factor 10
FGF5 fibroblast growth factor 5
FOXB1 forkhead box B1
GAL galanin/GMAP prepropeptide
GATA3 GATA binding protein 3
GFRA1 GDNF family receptor alpha 1
GFRA2 GDNF family receptor alpha 2
GHRHR growth hormone releasing hormone receptor
GJA1 gap junction protein, alpha 1, 43kDa
GUSB glucuronidase, beta
HOXC6 homeobox C6
HR hair growth associated
ID2 inhibitor of DNA binding 2, dominant negative helix-loop-helix protein
INHBB inhibin, beta B
ITPR3 inositol 1,4,5-trisphosphate receptor, type 3
JCHAIN joining chain of multimeric IgA and IgM
KALRN kalirin, RhoGEF kinase
KDM4B lysine (K)-specific demethylase 4B
KRT17 keratin 17, type I
KRT76 keratin 76, type II
KSR1 kinase suppressor of ras 1
LALBA lactalbumin, alpha-
LEPR leptin receptor
LIF leukemia inhibitory factor
LMNA lamin A/C
LRIG1 leucine-rich repeats and immunoglobulin-like domains 1
LYST lysosomal trafficking regulator
MAGED1 melanoma antigen family D1
MC5R melanocortin 5 receptor
MED1 mediator complex subunit 1
MFGE8 milk fat globule-EGF factor 8 protein
MKL1 megakaryoblastic leukemia (translocation) 1
MPZL3 myelin protein zero-like 3
MSX2 msh homeobox 2
MTA2 metastasis associated 1 family, member 2
MYO6 myosin VI
MYSM1 Myb-like, SWIRM and MPN domains 1
NEURL1 neuralized E3 ubiquitin protein ligase 1
NF1 neurofibromin 1
NME1 NME/NM23 nucleoside diphosphate kinase 1
NOS2 nitric oxide synthase 2, inducible
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
NTF4 neurotrophin 4
OXT oxytocin/neurophysin I prepropeptide
OXTR oxytocin receptor
PFKL phosphofructokinase, liver
PGR progesterone receptor
PLG plasminogen
PLIN2 perilipin 2
PRLR prolactin receptor
PTPRF protein tyrosine phosphatase, receptor type, F
PXMP2 peroxisomal membrane protein 2, 22kDa
PYGO2 pygopus family PHD finger 2
RAD18 RAD18 E3 ubiquitin protein ligase
RASSF9 Ras association (RalGDS/AF-6) domain family (N-terminal) member 9
RB1 retinoblastoma 1
RGN regucalcin
ROBO1 roundabout, axon guidance receptor, homolog 1 (Drosophila)
RXFP1 relaxin/insulin-like family peptide receptor 1
SCD stearoyl-CoA desaturase (delta-9-desaturase)
SIRT1 sirtuin 1
SLC30A4 solute carrier family 30 (zinc transporter), member 4
SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3
STAT5A signal transducer and activator of transcription 5A
STAT5B signal transducer and activator of transcription 5B
STAT6 signal transducer and activator of transcription 6, interleukin-4 induced
TBK1 TANK-binding kinase 1
THRSP thyroid hormone responsive
TIMP3 TIMP metallopeptidase inhibitor 3
TMEM79 transmembrane protein 79
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TP53 tumor protein p53
TRPC4AP transient receptor potential cation channel, subfamily C, member 4 associated protein
TRPV1 transient receptor potential cation channel, subfamily V, member 1
VGF VGF nerve growth factor inducible
XDH xanthine dehydrogenase
XIAP X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase
ZDHHC13 zinc finger, DHHC-type containing 13
ZDHHC21 zinc finger, DHHC-type containing 21
ZNF613 zinc finger protein 613