alopecia Gene Set

Dataset HPO Gene-Disease 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://compbio.charite.de/hpoweb/showterm?id=HP:0001596
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Genes

124 genes associated with the alopecia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12
ABHD5 abhydrolase domain containing 5
ACVR1 activin A receptor, type I
ADA adenosine deaminase
AIRE autoimmune regulator
ALMS1 Alstrom syndrome protein 1
ALOX12B arachidonate 12-lipoxygenase, 12R type
ALOXE3 arachidonate lipoxygenase 3
ALX4 ALX homeobox 4
ANTXR1 anthrax toxin receptor 1
APCDD1 adenomatosis polyposis coli down-regulated 1
ARHGAP31 Rho GTPase activating protein 31
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
ATR ATR serine/threonine kinase
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
BTD biotinidase
BTK Bruton agammaglobulinemia tyrosine kinase
CASR calcium-sensing receptor
CERS3 ceramide synthase 3
CHD7 chromodomain helicase DNA binding protein 7
CLDN1 claudin 1
COL3A1 collagen, type III, alpha 1
COL7A1 collagen, type VII, alpha 1
CTC1 CTS telomere maintenance complex component 1
DCAF17 DDB1 and CUL4 associated factor 17
DCLRE1C DNA cross-link repair 1C
DKC1 dyskeratosis congenita 1, dyskerin
DOCK6 dedicator of cytokinesis 6
DSG4 desmoglein 4
DSP desmoplakin
EBP emopamil binding protein (sterol isomerase)
ECM1 extracellular matrix protein 1
EDAR ectodysplasin A receptor
EDARADD EDAR-associated death domain
EOGT EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
EPS8L3 EPS8-like 3
FAM111B family with sequence similarity 111, member B
FOXN1 forkhead box N1
GJB2 gap junction protein, beta 2, 26kDa
GJB3 gap junction protein, beta 3, 31kDa
GJB4 gap junction protein, beta 4, 30.3kDa
GJB6 gap junction protein, beta 6, 30kDa
GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
HFE hemochromatosis
HLA-DRA major histocompatibility complex, class II, DR alpha
HLCS holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)
HR hair growth associated
HRAS Harvey rat sarcoma viral oncogene homolog
HTRA1 HtrA serine peptidase 1
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IL2RG interleukin 2 receptor, gamma
IL7R interleukin 7 receptor
JUP junction plakoglobin
KDM5C lysine (K)-specific demethylase 5C
KRAS Kirsten rat sarcoma viral oncogene homolog
KRT14 keratin 14, type I
KRT16 keratin 16, type I
KRT17 keratin 17, type I
KRT6A keratin 6A, type II
KRT6B keratin 6B, type II
KRT81 keratin 81, type II
KRT83 keratin 83, type II
KRT85 keratin 85, type II
KRT86 keratin 86, type II
LAMA3 laminin, alpha 3
LAMB3 laminin, beta 3
LAMC2 laminin, gamma 2
LIG4 ligase IV, DNA, ATP-dependent
LIPH lipase, member H
LMNA lamin A/C
LPAR6 lysophosphatidic acid receptor 6
MBTPS2 membrane-bound transcription factor peptidase, site 2
MCCC2 methylcrotonoyl-CoA carboxylase 2 (beta)
MGP matrix Gla protein
MMP1 matrix metallopeptidase 1
NF1 neurofibromin 1
NFKB2 nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)
NHP2 NHP2 ribonucleoprotein
NIPAL4 NIPA-like domain containing 4
NOP10 NOP10 ribonucleoprotein
NOTCH1 notch 1
NSDHL NAD(P) dependent steroid dehydrogenase-like
OFD1 oral-facial-digital syndrome 1
PEX7 peroxisomal biogenesis factor 7
PKP1 plakophilin 1
PLEC plectin
PNPLA1 patatin-like phospholipase domain containing 1
PORCN porcupine homolog (Drosophila)
PRKACA protein kinase, cAMP-dependent, catalytic, alpha
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
PVRL1 poliovirus receptor-related 1 (herpesvirus entry mediator C)
RAG1 recombination activating gene 1
RAG2 recombination activating gene 2
RBM28 RNA binding motif protein 28
RBPJ recombination signal binding protein for immunoglobulin kappa J region
RECQL4 RecQ protein-like 4
RIPK4 receptor-interacting serine-threonine kinase 4
RMRP RNA component of mitochondrial RNA processing endoribonuclease
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPL21 ribosomal protein L21
RTEL1 regulator of telomere elongation helicase 1
SAT1 spermidine/spermine N1-acetyltransferase 1
SLC39A4 solute carrier family 39 (zinc transporter), member 4
SLITRK1 SLIT and NTRK-like family, member 1
SNRPE small nuclear ribonucleoprotein polypeptide E
SOX18 SRY (sex determining region Y)-box 18
TERC telomerase RNA component
TERT telomerase reverse transcriptase
TGM1 transglutaminase 1
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TP63 tumor protein p63
TRPV3 transient receptor potential cation channel, subfamily V, member 3
UBR1 ubiquitin protein ligase E3 component n-recognin 1
UROD uroporphyrinogen decarboxylase
UROS uroporphyrinogen III synthase
USB1 U6 snRNA biogenesis 1
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
WNT10A wingless-type MMTV integration site family, member 10A
WNT5A wingless-type MMTV integration site family, member 5A
WRAP53 WD repeat containing, antisense to TP53
ZMPSTE24 zinc metallopeptidase STE24