aplasia/hypoplasia of the nails Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Aplasia or developmental hypoplasia of the nail. (Human Phenotype Ontology, HP_0008386)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0008386
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Genes

111 genes associated with the aplasia/hypoplasia of the nails phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACTG2 actin, gamma 2, smooth muscle, enteric
ADAMTSL2 ADAMTS-like 2
ALG3 ALG3, alpha-1,3- mannosyltransferase
ALOX12B arachidonate 12-lipoxygenase, 12R type
ARHGAP31 Rho GTPase activating protein 31
ARID1A AT rich interactive domain 1A (SWI-like)
ARID1B AT rich interactive domain 1B (SWI1-like)
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BCR breakpoint cluster region
BMPER BMP binding endothelial regulator
C15ORF41 chromosome 15 open reading frame 41
CLIP2 CAP-GLY domain containing linker protein 2
COL11A1 collagen, type XI, alpha 1
COL11A2 collagen, type XI, alpha 2
COL2A1 collagen, type II, 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
CTSK cathepsin K
DKC1 dyskeratosis congenita 1, dyskerin
DOCK6 dedicator of cytokinesis 6
DSP desmoplakin
ELN elastin
EOGT EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
EPHX1 epoxide hydrolase 1, microsomal (xenobiotic)
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
FGFR2 fibroblast growth factor receptor 2
FIG4 FIG4 phosphoinositide 5-phosphatase
FLNB filamin B, beta
FTO fat mass and obesity associated
GDF5 growth differentiation factor 5
GJB2 gap junction protein, beta 2, 26kDa
GJB6 gap junction protein, beta 6, 30kDa
GPC3 glypican 3
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HOXA13 homeobox A13
HRAS Harvey rat sarcoma viral oncogene homolog
IFT122 intraflagellar transport 122
IFT43 intraflagellar transport 43
IHH indian hedgehog
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
ITGA6 integrin, alpha 6
ITGB4 integrin, beta 4
JUP junction plakoglobin
KRT16 keratin 16, type I
KRT17 keratin 17, type I
KRT6A keratin 6A, type II
KRT6B keratin 6B, type II
LAMA3 laminin, alpha 3
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
MPLKIP M-phase specific PLK1 interacting protein
MSX1 msh homeobox 1
NHP2 NHP2 ribonucleoprotein
NOG noggin
NOP10 NOP10 ribonucleoprotein
NOTCH1 notch 1
NOTCH2 notch 2
NPR2 natriuretic peptide receptor 2
NSD1 nuclear receptor binding SET domain protein 1
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
OFD1 oral-facial-digital syndrome 1
PIGA phosphatidylinositol glycan anchor biosynthesis, class A
PIGV phosphatidylinositol glycan anchor biosynthesis, class V
POC1A POC1 centriolar protein A
PORCN porcupine homolog (Drosophila)
PVRL4 poliovirus receptor-related 4
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
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RSPO4 R-spondin 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
STAMBP STAM binding protein
TBC1D24 TBC1 domain family, member 24
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
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TP63 tumor protein p63
USB1 U6 snRNA biogenesis 1
WNT10A wingless-type MMTV integration site family, member 10A
WNT7A wingless-type MMTV integration site family, member 7A
WRAP53 WD repeat containing, antisense to TP53
ZBTB20 zinc finger and BTB domain containing 20
ZMPSTE24 zinc metallopeptidase STE24