abnormal coat/ hair morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any anomaly in the color, structure, growth, or texture of the hair (Mammalian Phenotype Ontology, MP_0000367)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000367
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Genes

376 gene mutations causing the abnormal coat/ hair morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
A2M alpha-2-macroglobulin
AARS alanyl-tRNA synthetase
ACD adrenocortical dysplasia homolog (mouse)
ACER1 alkaline ceramidase 1
ACP2 acid phosphatase 2, lysosomal
ACVR1B activin A receptor, type IB
ADAM17 ADAM metallopeptidase domain 17
ADAMTS20 ADAM metallopeptidase with thrombospondin type 1 motif, 20
AGA aspartylglucosaminidase
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
AHR aryl hydrocarbon receptor
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1
ALX4 ALX homeobox 4
AP3B1 adaptor-related protein complex 3, beta 1 subunit
AP3D1 adaptor-related protein complex 3, delta 1 subunit
APOE apolipoprotein E
APRT adenine phosphoribosyltransferase
AQP2 aquaporin 2 (collecting duct)
ARCN1 archain 1
ARHGAP1 Rho GTPase activating protein 1
ARID4A AT rich interactive domain 4A (RBP1-like)
ARNTL aryl hydrocarbon receptor nuclear translocator-like
ARPC4 actin related protein 2/3 complex, subunit 4, 20kDa
ASIP agouti signaling protein
ASL argininosuccinate lyase
ASPRV1 aspartic peptidase, retroviral-like 1
ASS1 argininosuccinate synthase 1
ATF4 activating transcription factor 4
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATP7B ATPase, Cu++ transporting, beta polypeptide
ATP8A2 ATPase, aminophospholipid transporter, class I, type 8A, member 2
ATR ATR serine/threonine kinase
ATRN attractin
B4GALT1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
BARX2 BARX homeobox 2
BCAT2 branched chain amino-acid transaminase 2, mitochondrial
BCKDK branched chain ketoacid dehydrogenase kinase
BCL2 B-cell CLL/lymphoma 2
BCL2A1 BCL2-related protein A1
BLOC1S3 biogenesis of lysosomal organelles complex-1, subunit 3
BLOC1S4 biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino
BLOC1S5 biogenesis of lysosomal organelles complex-1, subunit 5, muted
BLOC1S6 biogenesis of lysosomal organelles complex-1, subunit 6, pallidin
BRCA1 breast cancer 1, early onset
BRD7 bromodomain containing 7
BTD biotinidase
C8ORF44-SGK3 C8orf44-SGK3 readthrough
CABP1 calcium binding protein 1
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CASR calcium-sensing receptor
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase
CBS cystathionine-beta-synthase
CD109 CD109 molecule
CDC42 cell division cycle 42
CDK5RAP2 CDK5 regulatory subunit associated protein 2
CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1)
CDSN corneodesmosin
CELSR1 cadherin, EGF LAG seven-pass G-type receptor 1
CHD2 chromodomain helicase DNA binding protein 2
CISD2 CDGSH iron sulfur domain 2
CLCN1 chloride channel, voltage-sensitive 1
CLDN1 claudin 1
CLPS colipase, pancreatic
CNR2 cannabinoid receptor 2 (macrophage)
COL17A1 collagen, type XVII, alpha 1
COL19A1 collagen, type XIX, alpha 1
COL1A1 collagen, type I, alpha 1
COQ9 coenzyme Q9
CORIN corin, serine peptidase
CRH corticotropin releasing hormone
CST6 cystatin E/M
CTC1 CTS telomere maintenance complex component 1
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CTSA cathepsin A
CTSC cathepsin C
CTSE cathepsin E
CTSV cathepsin V
CUX1 cut-like homeobox 1
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1
CYP7A1 cytochrome P450, family 7, subfamily A, polypeptide 1
DBI diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein)
DBNL drebrin-like
DCR Down syndrome chromosome region
DCT dopachrome tautomerase
DEGS1 delta(4)-desaturase, sphingolipid 1
DGAT1 diacylglycerol O-acyltransferase 1
DIAPH1 diaphanous-related formin 1
DNASE1L2 deoxyribonuclease I-like 2
DOCK7 dedicator of cytokinesis 7
DRD1 dopamine receptor D1
DRD2 dopamine receptor D2
DSC1 desmocollin 1
DSG3 desmoglein 3
DSG4 desmoglein 4
DST dystonin
DTNBP1 dystrobrevin binding protein 1
E2F2 E2F transcription factor 2
E2F3 E2F transcription factor 3
E2F5 E2F transcription factor 5, p130-binding
EBP emopamil binding protein (sterol isomerase)
EDA ectodysplasin A
EDAR ectodysplasin A receptor
EDARADD EDAR-associated death domain
EDN3 endothelin 3
EDNRB endothelin receptor type B
EED embryonic ectoderm development
EFEMP1 EGF containing fibulin-like extracellular matrix protein 1
EGFR epidermal growth factor receptor
EIF3C eukaryotic translation initiation factor 3, subunit C
ELOVL3 ELOVL fatty acid elongase 3
ENG endoglin
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
ERCC2 excision repair cross-complementation group 2
ERP44 endoplasmic reticulum protein 44
ETS2 v-ets avian erythroblastosis virus E26 oncogene homolog 2
FAM83G family with sequence similarity 83, member G
FAS Fas cell surface death receptor
FBLN5 fibulin 5
FGF10 fibroblast growth factor 10
FGF5 fibroblast growth factor 5
FGF7 fibroblast growth factor 7
FHIT fragile histidine triad
FIG4 FIG4 phosphoinositide 5-phosphatase
FLG filaggrin
FOXE1 forkhead box E1
FOXN1 forkhead box N1
FOXP3 forkhead box P3
FOXQ1 forkhead box Q1
FRAS1 Fraser extracellular matrix complex subunit 1
FREM2 FRAS1 related extracellular matrix protein 2
FZD4 frizzled class receptor 4
GATA3 GATA binding protein 3
GGT1 gamma-glutamyltransferase 1
GJB6 gap junction protein, beta 6, 30kDa
GLI2 GLI family zinc finger 2
GLI3 GLI family zinc finger 3
GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
GNAS GNAS complex locus
GOLM1 golgi membrane protein 1
GPC3 glypican 3
GPR161 G protein-coupled receptor 161
GRHL1 grainyhead-like 1 (Drosophila)
GTF2IRD1 GTF2I repeat domain containing 1
HELLS helicase, lymphoid-specific
HEPH hephaestin
HMGA2 high mobility group AT-hook 2
HOXB8 homeobox B8
HOXC13 homeobox C13
HPS1 Hermansky-Pudlak syndrome 1
HPS3 Hermansky-Pudlak syndrome 3
HPS4 Hermansky-Pudlak syndrome 4
HPS5 Hermansky-Pudlak syndrome 5
HPS6 Hermansky-Pudlak syndrome 6
HR hair growth associated
HTR2C 5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled
HTRA2 HtrA serine peptidase 2
IDS iduronate 2-sulfatase
IDUA iduronidase, alpha-L-
IFT88 intraflagellar transport 88
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IL2RB interleukin 2 receptor, beta
INHBA inhibin, beta A
IRF2 interferon regulatory factor 2
ITGB2 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)
ITGB6 integrin, beta 6
ITPKB inositol-trisphosphate 3-kinase B
ITPR3 inositol 1,4,5-trisphosphate receptor, type 3
JAK1 Janus kinase 1
JAM3 junctional adhesion molecule 3
KCNN2 potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 2
KIAA1549L KIAA1549-like
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KITLG KIT ligand
KL klotho
KMT2A lysine (K)-specific methyltransferase 2A
KRT10 keratin 10, type I
KRT17 keratin 17, type I
KRT25 keratin 25, type I
KRT27 keratin 27, type I
KRT31 keratin 31, type I
KRT4 keratin 4, type II
KRT71 keratin 71, type II
KRT75 keratin 75, type II
KRT76 keratin 76, type II
KSR1 kinase suppressor of ras 1
L1CAM L1 cell adhesion molecule
LACTB2 lactamase, beta 2
LBR lamin B receptor
LDLR low density lipoprotein receptor
LEF1 lymphoid enhancer-binding factor 1
LIPH lipase, member H
LIPI lipase, member I
LMNA lamin A/C
LMX1A LIM homeobox transcription factor 1, alpha
LPIN1 lipin 1
LRIG1 leucine-rich repeats and immunoglobulin-like domains 1
LRIG2 leucine-rich repeats and immunoglobulin-like domains 2
LRP4 low density lipoprotein receptor-related protein 4
LRP6 low density lipoprotein receptor-related protein 6
LRRK2 leucine-rich repeat kinase 2
LUM lumican
LYST lysosomal trafficking regulator
LYZ lysozyme
MAP1B microtubule-associated protein 1B
MAPT microtubule-associated protein tau
MBTPS1 membrane-bound transcription factor peptidase, site 1
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
MC5R melanocortin 5 receptor
MCM2 minichromosome maintenance complex component 2
MCOLN3 mucolipin 3
MECP2 methyl CpG binding protein 2
MGRN1 mahogunin ring finger 1, E3 ubiquitin protein ligase
MIR205 microRNA 205
MITF microphthalmia-associated transcription factor
MKLN1 muskelin 1, intracellular mediator containing kelch motifs
MLANA melan-A
MLPH melanophilin
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MPV17 MpV17 mitochondrial inner membrane protein
MPZL3 myelin protein zero-like 3
MSX2 msh homeobox 2
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MTURN maturin, neural progenitor differentiation regulator homolog (Xenopus)
MYO10 myosin X
MYO5A myosin VA (heavy chain 12, myoxin)
MYO6 myosin VI
MYSM1 Myb-like, SWIRM and MPN domains 1
NAGLU N-acetylglucosaminidase, alpha
NAGS N-acetylglutamate synthase
NCOA3 nuclear receptor coactivator 3
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
NEK1 NIMA-related kinase 1
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
NFKB2 nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)
NFKBIZ nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta
NGF nerve growth factor (beta polypeptide)
NSDHL NAD(P) dependent steroid dehydrogenase-like
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
NTRK1 neurotrophic tyrosine kinase, receptor, type 1
OAT ornithine aminotransferase
OCA2 oculocutaneous albinism II
ORAI1 ORAI calcium release-activated calcium modulator 1
OSTM1 osteopetrosis associated transmembrane protein 1
OTC ornithine carbamoyltransferase
OVOL1 ovo-like zinc finger 1
PAH phenylalanine hydroxylase
PARK2 parkin RBR E3 ubiquitin protein ligase
PAX3 paired box 3
PAX6 paired box 6
PCBD1 pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha
PDE3B phosphodiesterase 3B, cGMP-inhibited
PDX1 pancreatic and duodenal homeobox 1
PEPD peptidase D
PER2 period circadian clock 2
PFAS phosphoribosylformylglycinamidine synthase
PKP3 plakophilin 3
PLCD1 phospholipase C, delta 1
PLD4 phospholipase D family, member 4
PLXNB2 plexin B2
PMEL premelanosome protein
POLG polymerase (DNA directed), gamma
POMC proopiomelanocortin
PORCN porcupine homolog (Drosophila)
PPP1R13L protein phosphatase 1, regulatory subunit 13 like
PRF1 perforin 1 (pore forming protein)
PRIMPOL primase and polymerase (DNA-directed)
PRLR prolactin receptor
PRSS8 protease, serine, 8
PTCH1 patched 1
PTCH2 patched 2
PTPN6 protein tyrosine phosphatase, non-receptor type 6
PTS 6-pyruvoyltetrahydropterin synthase
PXDN peroxidasin
RAB27A RAB27A, member RAS oncogene family
RAB38 RAB38, member RAS oncogene family
RABGGTA Rab geranylgeranyltransferase, alpha subunit
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RAG1 recombination activating gene 1
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
RELN reelin
RFWD2 ring finger and WD repeat domain 2, E3 ubiquitin protein ligase
RGN regucalcin
RLBP1 retinaldehyde binding protein 1
RORA RAR-related orphan receptor A
RPL24 ribosomal protein L24
RPL38 ribosomal protein L38
RPS7 ribosomal protein S7
RUNX3 runt-related transcription factor 3
RUVBL2 RuvB-like AAA ATPase 2
RXRA retinoid X receptor, alpha
SCARF1 scavenger receptor class F, member 1
SCD stearoyl-CoA desaturase (delta-9-desaturase)
SCG5 secretogranin V
SEA S13 erythroblastosis (avian) oncogene homolog
SEMA4C sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C
SFN stratifin
SGSH N-sulfoglucosamine sulfohydrolase
SHARPIN SHANK-associated RH domain interactor
SHH sonic hedgehog
SLC24A5 solute carrier family 24 (sodium/potassium/calcium exchanger), member 5
SLC27A4 solute carrier family 27 (fatty acid transporter), member 4
SLC30A4 solute carrier family 30 (zinc transporter), member 4
SLC35C1 solute carrier family 35 (GDP-fucose transporter), member C1
SLC39A2 solute carrier family 39 (zinc transporter), member 2
SLC45A2 solute carrier family 45, member 2
SLC7A11 solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11
SLITRK5 SLIT and NTRK-like family, member 5
SMAD3 SMAD family member 3
SMOC1 SPARC related modular calcium binding 1
SNAI2 snail family zinc finger 2
SNAP25 synaptosomal-associated protein, 25kDa
SNX5 sorting nexin 5
SOAT1 sterol O-acyltransferase 1
SOX10 SRY (sex determining region Y)-box 10
SOX18 SRY (sex determining region Y)-box 18
SOX2 SRY (sex determining region Y)-box 2
SOX21 SRY (sex determining region Y)-box 21
SP6 Sp6 transcription factor
SPAG9 sperm associated antigen 9
SPINK1 serine peptidase inhibitor, Kazal type 1
SPINK5 serine peptidase inhibitor, Kazal type 5
SPTA1 spectrin, alpha, erythrocytic 1
SPTBN1 spectrin, beta, non-erythrocytic 1
SQSTM1 sequestosome 1
SRC SRC proto-oncogene, non-receptor tyrosine kinase
ST14 suppression of tumorigenicity 14 (colon carcinoma)
STAT5B signal transducer and activator of transcription 5B
SUFU suppressor of fused homolog (Drosophila)
SZT2 seizure threshold 2 homolog (mouse)
TAL1 T-cell acute lymphocytic leukemia 1
TBC1D20 TBC1 domain family, member 20
TBK1 TANK-binding kinase 1
TBX10 T-box 10
TBX15 T-box 15
TBX19 T-box 19
TERC telomerase RNA component
TGFA transforming growth factor, alpha
TGFB1 transforming growth factor, beta 1
TGM3 transglutaminase 3
THRA thyroid hormone receptor, alpha
TICRR TOPBP1-interacting checkpoint and replication regulator
TIMM23 translocase of inner mitochondrial membrane 23 homolog (yeast)
TIMP3 TIMP metallopeptidase inhibitor 3
TMEM79 transmembrane protein 79
TMPRSS6 transmembrane protease, serine 6
TNF tumor necrosis factor
TOM1L2 target of myb1-like 2 (chicken)
TP53 tumor protein p53
TP63 tumor protein p63
TPP2 tripeptidyl peptidase II
TRAF6 TNF receptor-associated factor 6, E3 ubiquitin protein ligase
TRAPPC6A trafficking protein particle complex 6A
TRPS1 trichorhinophalangeal syndrome I
TRPV3 transient receptor potential cation channel, subfamily V, member 3
TTC7A tetratricopeptide repeat domain 7A
TWIST2 twist family bHLH transcription factor 2
TYR tyrosinase
TYRP1 tyrosinase-related protein 1
UQCRFS1 ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1
USF2 upstream transcription factor 2, c-fos interacting
VAC14 Vac14 homolog (S. cerevisiae)
VCP valosin containing protein
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VEGFA vascular endothelial growth factor A
VPS33A vacuolar protein sorting 33 homolog A (S. cerevisiae)
ZDHHC13 zinc finger, DHHC-type containing 13
ZDHHC21 zinc finger, DHHC-type containing 21
ZEB1 zinc finger E-box binding homeobox 1
ZFP36 ZFP36 ring finger protein
ZIC2 Zic family member 2
ZMPSTE24 zinc metallopeptidase STE24