abnormal hair follicle morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the invagination of the epidermis from which the hair shaft develops (Mammalian Phenotype Ontology, MP_0000377)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000377
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Genes

140 gene mutations causing the abnormal hair follicle morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
AARS alanyl-tRNA synthetase
ACP2 acid phosphatase 2, lysosomal
ADAM17 ADAM metallopeptidase domain 17
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2
ADAMTS20 ADAM metallopeptidase with thrombospondin type 1 motif, 20
AHR aryl hydrocarbon receptor
AKT1 v-akt murine thymoma viral oncogene homolog 1
ARNTL aryl hydrocarbon receptor nuclear translocator-like
ARPC2 actin related protein 2/3 complex, subunit 2, 34kDa
ASL argininosuccinate lyase
ASS1 argininosuccinate synthase 1
ATR ATR serine/threonine kinase
B4GALT1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
BCL2 B-cell CLL/lymphoma 2
BLOC1S3 biogenesis of lysosomal organelles complex-1, subunit 3
BMP7 bone morphogenetic protein 7
BRCA1 breast cancer 1, early onset
C12ORF43 chromosome 12 open reading frame 43
C8ORF44-SGK3 C8orf44-SGK3 readthrough
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CBS cystathionine-beta-synthase
CD109 CD109 molecule
CD34 CD34 molecule
CDC42 cell division cycle 42
CDSN corneodesmosin
CENPJ centromere protein J
CHUK conserved helix-loop-helix ubiquitous kinase
CISD2 CDGSH iron sulfur domain 2
CREB3L1 cAMP responsive element binding protein 3-like 1
CST6 cystatin E/M
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CTSV cathepsin V
CUX1 cut-like homeobox 1
CYP26B1 cytochrome P450, family 26, subfamily B, polypeptide 1
DSC1 desmocollin 1
DSG3 desmoglein 3
DSG4 desmoglein 4
DUSP26 dual specificity phosphatase 26 (putative)
EDA ectodysplasin A
EDAR ectodysplasin A receptor
EDARADD EDAR-associated death domain
EGFR epidermal growth factor receptor
ELOVL3 ELOVL fatty acid elongase 3
EN1 engrailed homeobox 1
ERCC2 excision repair cross-complementation group 2
FARP2 FERM, RhoGEF and pleckstrin domain protein 2
FGF10 fibroblast growth factor 10
FGFR2 fibroblast growth factor receptor 2
FIG4 FIG4 phosphoinositide 5-phosphatase
FOXN1 forkhead box N1
GAB1 GRB2-associated binding protein 1
GATA3 GATA binding protein 3
GBF1 golgi brefeldin A resistant guanine nucleotide exchange factor 1
GPC5 glypican 5
GRHL1 grainyhead-like 1 (Drosophila)
HERC3 HECT and RLD domain containing E3 ubiquitin protein ligase 3
HR hair growth associated
IGF1 insulin-like growth factor 1 (somatomedin C)
IGF1R insulin-like growth factor 1 receptor
IRF6 interferon regulatory factor 6
ITGB2 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)
ITGB6 integrin, beta 6
ITPA inosine triphosphatase (nucleoside triphosphate pyrophosphatase)
KDM7A lysine (K)-specific demethylase 7A
KL klotho
KRT17 keratin 17, type I
KRT25 keratin 25, type I
KRT71 keratin 71, type II
KRT75 keratin 75, type II
KSR1 kinase suppressor of ras 1
LEF1 lymphoid enhancer-binding factor 1
LHX2 LIM homeobox 2
LIPH lipase, member H
LMNA lamin A/C
LRIG1 leucine-rich repeats and immunoglobulin-like domains 1
LRP4 low density lipoprotein receptor-related protein 4
LYST lysosomal trafficking regulator
MAD2L2 MAD2 mitotic arrest deficient-like 2 (yeast)
MIR205 microRNA 205
MITF microphthalmia-associated transcription factor
MPV17 MpV17 mitochondrial inner membrane protein
MPZL3 myelin protein zero-like 3
MTA2 metastasis associated 1 family, member 2
MYO6 myosin VI
MYSM1 Myb-like, SWIRM and MPN domains 1
NCOA6 nuclear receptor coactivator 6
NGFR nerve growth factor receptor
NOG noggin
OAT ornithine aminotransferase
OXR1 oxidation resistance 1
PDS5A PDS5 cohesin associated factor A
PEX3 peroxisomal biogenesis factor 3
PFKL phosphofructokinase, liver
PFN1 profilin 1
PKP3 plakophilin 3
PLCD1 phospholipase C, delta 1
PNN pinin, desmosome associated protein
PPARD peroxisome proliferator-activated receptor delta
PRMT2 protein arginine methyltransferase 2
PRSS8 protease, serine, 8
PYGO2 pygopus family PHD finger 2
RAD18 RAD18 E3 ubiquitin protein ligase
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RELA v-rel avian reticuloendotheliosis viral oncogene homolog A
RHOT2 ras homolog family member T2
RUNX2 runt-related transcription factor 2
RYR1 ryanodine receptor 1 (skeletal)
SAV1 salvador family WW domain containing protein 1
SCD stearoyl-CoA desaturase (delta-9-desaturase)
SFN stratifin
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
SOX10 SRY (sex determining region Y)-box 10
SOX18 SRY (sex determining region Y)-box 18
SP6 Sp6 transcription factor
SPINK5 serine peptidase inhibitor, Kazal type 5
ST14 suppression of tumorigenicity 14 (colon carcinoma)
STAG1 stromal antigen 1
TAL1 T-cell acute lymphocytic leukemia 1
TGFA transforming growth factor, alpha
TM9SF4 transmembrane 9 superfamily protein member 4
TMEM79 transmembrane protein 79
TMEM98 transmembrane protein 98
TMPRSS6 transmembrane protease, serine 6
TP63 tumor protein p63
TRAF3IP3 TRAF3 interacting protein 3
TRAF6 TNF receptor-associated factor 6, E3 ubiquitin protein ligase
TREX1 three prime repair exonuclease 1
TRPS1 trichorhinophalangeal syndrome I
TWIST2 twist family bHLH transcription factor 2
TYR tyrosinase
USH1C Usher syndrome 1C (autosomal recessive, severe)
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
XPC xeroderma pigmentosum, complementation group C
ZDHHC13 zinc finger, DHHC-type containing 13
ZDHHC21 zinc finger, DHHC-type containing 21
ZMPSTE24 zinc metallopeptidase STE24