abnormal hair shaft morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the cuticle, cortex and/or medulla of a hair (Mammalian Phenotype Ontology, MP_0003809)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0003809
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59 gene mutations causing the abnormal hair shaft morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
AARS alanyl-tRNA synthetase
ACP2 acid phosphatase 2, lysosomal
AHR aryl hydrocarbon receptor
ARCN1 archain 1
ATP7A ATPase, Cu++ transporting, alpha polypeptide
BCAT2 branched chain amino-acid transaminase 2, mitochondrial
C8ORF44-SGK3 C8orf44-SGK3 readthrough
CD109 CD109 molecule
CDC42 cell division cycle 42
CDSN corneodesmosin
CTSV cathepsin V
CUX1 cut-like homeobox 1
DNASE1L2 deoxyribonuclease I-like 2
DSG3 desmoglein 3
DSG4 desmoglein 4
EDA ectodysplasin A
EGFR epidermal growth factor receptor
ERCC2 excision repair cross-complementation group 2
ETS2 v-ets avian erythroblastosis virus E26 oncogene homolog 2
FGF10 fibroblast growth factor 10
FLG filaggrin
FOXE1 forkhead box E1
FOXN1 forkhead box N1
FOXQ1 forkhead box Q1
GATA3 GATA binding protein 3
HR hair growth associated
KRT17 keratin 17, type I
KRT25 keratin 25, type I
KRT27 keratin 27, type I
KRT71 keratin 71, type II
KRT75 keratin 75, type II
KSR1 kinase suppressor of ras 1
LIPH lipase, member H
LYST lysosomal trafficking regulator
MITF microphthalmia-associated transcription factor
NSDHL NAD(P) dependent steroid dehydrogenase-like
OVOL1 ovo-like zinc finger 1
PKP3 plakophilin 3
PMEL premelanosome protein
PPP1R13L protein phosphatase 1, regulatory subunit 13 like
PRSS8 protease, serine, 8
RASSF9 Ras association (RalGDS/AF-6) domain family (N-terminal) member 9
SCD stearoyl-CoA desaturase (delta-9-desaturase)
SHARPIN SHANK-associated RH domain interactor
SHH sonic hedgehog
SLC24A5 solute carrier family 24 (sodium/potassium/calcium exchanger), member 5
SLC30A4 solute carrier family 30 (zinc transporter), member 4
SOAT1 sterol O-acyltransferase 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)
TGFA transforming growth factor, alpha
TGM3 transglutaminase 3
TMEM79 transmembrane protein 79
TP63 tumor protein p63
TTC7A tetratricopeptide repeat domain 7A
ZDHHC13 zinc finger, DHHC-type containing 13
ZDHHC21 zinc finger, DHHC-type containing 21