alopecia Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description A hypotrichosis that is characterized by a loss of hair from the head or body. (Human Disease Ontology, DOID_987)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000414
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Genes

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

Symbol Name
ACP2 acid phosphatase 2, lysosomal
AHR aryl hydrocarbon receptor
ALX4 ALX homeobox 4
APOE apolipoprotein E
AQP2 aquaporin 2 (collecting duct)
ASS1 argininosuccinate synthase 1
BARX2 BARX homeobox 2
BTD biotinidase
C8ORF44-SGK3 C8orf44-SGK3 readthrough
CDSN corneodesmosin
CNR2 cannabinoid receptor 2 (macrophage)
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CTSE cathepsin E
CTSV cathepsin V
CUX1 cut-like homeobox 1
DGAT1 diacylglycerol O-acyltransferase 1
DIAPH1 diaphanous-related formin 1
DSC1 desmocollin 1
DSG3 desmoglein 3
DSG4 desmoglein 4
DST dystonin
EBP emopamil binding protein (sterol isomerase)
EGFR epidermal growth factor receptor
ERCC2 excision repair cross-complementation group 2
FHIT fragile histidine triad
FOXP3 forkhead box P3
GATA3 GATA binding protein 3
GRHL1 grainyhead-like 1 (Drosophila)
HELLS helicase, lymphoid-specific
HOXC13 homeobox C13
HR hair growth associated
IDS iduronate 2-sulfatase
ITGB2 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)
ITGB6 integrin, beta 6
JAK1 Janus kinase 1
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KL klotho
KRT17 keratin 17, type I
KRT71 keratin 71, type II
KSR1 kinase suppressor of ras 1
LDLR low density lipoprotein receptor
LEF1 lymphoid enhancer-binding factor 1
LMNA lamin A/C
LRIG1 leucine-rich repeats and immunoglobulin-like domains 1
LRRK2 leucine-rich repeat kinase 2
MPZL3 myelin protein zero-like 3
MSX2 msh homeobox 2
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
NFKBIZ nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta
NSDHL NAD(P) dependent steroid dehydrogenase-like
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
ORAI1 ORAI calcium release-activated calcium modulator 1
OTC ornithine carbamoyltransferase
PARK2 parkin RBR E3 ubiquitin protein ligase
PKP3 plakophilin 3
PLCD1 phospholipase C, delta 1
POLG polymerase (DNA directed), gamma
PORCN porcupine homolog (Drosophila)
PTCH2 patched 2
PTS 6-pyruvoyltetrahydropterin synthase
RAG2 recombination activating gene 2
RASSF9 Ras association (RalGDS/AF-6) domain family (N-terminal) member 9
RECQL4 RecQ protein-like 4
RELB v-rel avian reticuloendotheliosis viral oncogene homolog B
RGN regucalcin
RXRA retinoid X receptor, alpha
SCARF1 scavenger receptor class F, member 1
SCD stearoyl-CoA desaturase (delta-9-desaturase)
SCG5 secretogranin V
SHARPIN SHANK-associated RH domain interactor
SHH sonic hedgehog
SLC30A4 solute carrier family 30 (zinc transporter), member 4
SLITRK5 SLIT and NTRK-like family, member 5
SOX18 SRY (sex determining region Y)-box 18
SOX21 SRY (sex determining region Y)-box 21
SPTBN1 spectrin, beta, non-erythrocytic 1
ST14 suppression of tumorigenicity 14 (colon carcinoma)
SUFU suppressor of fused homolog (Drosophila)
TAL1 T-cell acute lymphocytic leukemia 1
TERC telomerase RNA component
TIMM23 translocase of inner mitochondrial membrane 23 homolog (yeast)
TMEM79 transmembrane protein 79
TMPRSS6 transmembrane protease, serine 6
TNF tumor necrosis factor
TP63 tumor protein p63
TRAF6 TNF receptor-associated factor 6, E3 ubiquitin protein ligase
TTC7A tetratricopeptide repeat domain 7A
TWIST2 twist family bHLH transcription factor 2
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
ZDHHC13 zinc finger, DHHC-type containing 13
ZFP36 ZFP36 ring finger protein
ZMPSTE24 zinc metallopeptidase STE24