nail dysplasia Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description The presence of developmental dysplasia of the nail. (Human Phenotype Ontology, HP_0002164)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002164
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Genes

83 genes associated with the nail dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1
ALG3 ALG3, alpha-1,3- mannosyltransferase
ARX aristaless related homeobox
ATL1 atlastin GTPase 1
ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
ATR ATR serine/threonine kinase
COL17A1 collagen, type XVII, alpha 1
COL7A1 collagen, type VII, alpha 1
CTC1 CTS telomere maintenance complex component 1
CTSK cathepsin K
DKC1 dyskeratosis congenita 1, dyskerin
DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
DSP desmoplakin
ECE1 endothelin converting enzyme 1
EDA ectodysplasin A
EDAR ectodysplasin A receptor
EFNB1 ephrin-B1
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
FAM111B family with sequence similarity 111, member B
FERMT1 fermitin family member 1
FLNA filamin A, alpha
GJB2 gap junction protein, beta 2, 26kDa
GJB6 gap junction protein, beta 6, 30kDa
GLI3 GLI family zinc finger 3
HOXC13 homeobox C13
HRAS Harvey rat sarcoma viral oncogene homolog
IFT43 intraflagellar transport 43
IHH indian hedgehog
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IL11RA interleukin 11 receptor, alpha
IL36RN interleukin 36 receptor antagonist
INSR insulin receptor
ITGA6 integrin, alpha 6
ITGB4 integrin, beta 4
KCTD1 potassium channel tetramerization domain containing 1
KRT14 keratin 14, type I
KRT17 keratin 17, type I
KRT5 keratin 5, 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
LMX1B LIM homeobox transcription factor 1, beta
LPAR6 lysophosphatidic acid receptor 6
LRP4 low density lipoprotein receptor-related protein 4
MBTPS2 membrane-bound transcription factor peptidase, site 2
MPLKIP M-phase specific PLK1 interacting protein
MSX1 msh homeobox 1
NHP2 NHP2 ribonucleoprotein
NOP10 NOP10 ribonucleoprotein
NTRK1 neurotrophic tyrosine kinase, receptor, type 1
ORC1 origin recognition complex, subunit 1
PLCD1 phospholipase C, delta 1
PLEC plectin
PLOD3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
POMP proteasome maturation protein
PORCN porcupine homolog (Drosophila)
PVRL1 poliovirus receptor-related 1 (herpesvirus entry mediator C)
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
SAT1 spermidine/spermine N1-acetyltransferase 1
SATB2 SATB homeobox 2
SETBP1 SET binding protein 1
SHANK3 SH3 and multiple ankyrin repeat domains 3
SOST sclerostin
TBC1D24 TBC1 domain family, member 24
TERC telomerase RNA component
TGM1 transglutaminase 1
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TP63 tumor protein p63
TRPS1 trichorhinophalangeal syndrome I
TRPV3 transient receptor potential cation channel, subfamily V, member 3
UBE2A ubiquitin-conjugating enzyme E2A
VEGFC vascular endothelial growth factor C
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