aplastic/hypoplastic toenail Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Absence or underdevelopment of the toenail. (Human Phenotype Ontology, HP_0010624)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0010624
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Genes

66 genes associated with the aplastic/hypoplastic toenail phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ARHGAP31 Rho GTPase activating protein 31
ARID1A AT rich interactive domain 1A (SWI-like)
ARID1B AT rich interactive domain 1B (SWI1-like)
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BCR breakpoint cluster region
CLIP2 CAP-GLY domain containing linker protein 2
COL11A1 collagen, type XI, alpha 1
COL7A1 collagen, type VII, alpha 1
CPT2 carnitine palmitoyltransferase 2
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
CTC1 CTS telomere maintenance complex component 1
DKC1 dyskeratosis congenita 1, dyskerin
DOCK6 dedicator of cytokinesis 6
ELN elastin
EOGT EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FGFR1 fibroblast growth factor receptor 1
FIG4 FIG4 phosphoinositide 5-phosphatase
GDF5 growth differentiation factor 5
GJB2 gap junction protein, beta 2, 26kDa
GJB6 gap junction protein, beta 6, 30kDa
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HOXA13 homeobox A13
HRAS Harvey rat sarcoma viral oncogene homolog
LBR lamin B receptor
LIG4 ligase IV, DNA, ATP-dependent
LIMK1 LIM domain kinase 1
LMNA lamin A/C
LMX1B LIM homeobox transcription factor 1, beta
LRP4 low density lipoprotein receptor-related protein 4
MAPK1 mitogen-activated protein kinase 1
MMP1 matrix metallopeptidase 1
MSX1 msh homeobox 1
NHP2 NHP2 ribonucleoprotein
NOG noggin
NOP10 NOP10 ribonucleoprotein
NOTCH1 notch 1
NSD1 nuclear receptor binding SET domain protein 1
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
PORCN porcupine homolog (Drosophila)
RBPJ recombination signal binding protein for immunoglobulin kappa J region
RFC2 replication factor C (activator 1) 2, 40kDa
RIPK4 receptor-interacting serine-threonine kinase 4
RTEL1 regulator of telomere elongation helicase 1
SHANK3 SH3 and multiple ankyrin repeat domains 3
SHOC2 soc-2 suppressor of clear homolog (C. elegans)
SHOX short stature homeobox
SLC35D1 solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
SOX11 SRY (sex determining region Y)-box 11
TBL2 transducin (beta)-like 2
TBX3 T-box 3
TBX4 T-box 4
TCTN3 tectonic family member 3
TERC telomerase RNA component
TERT telomerase reverse transcriptase
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
USB1 U6 snRNA biogenesis 1
WNT7A wingless-type MMTV integration site family, member 7A
WRAP53 WD repeat containing, antisense to TP53
ZMPSTE24 zinc metallopeptidase STE24