abnormality of the nail Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001597
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Genes

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

Symbol Name
AAGAB alpha- and gamma-adaptin binding protein
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1
ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12
ACTG2 actin, gamma 2, smooth muscle, enteric
ACVRL1 activin A receptor type II-like 1
ADA adenosine deaminase
ADAM17 ADAM metallopeptidase domain 17
ADAMTSL2 ADAMTS-like 2
AIP aryl hydrocarbon receptor interacting protein
AIRE autoimmune regulator
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALG3 ALG3, alpha-1,3- mannosyltransferase
ALOX12B arachidonate 12-lipoxygenase, 12R type
ALOXE3 arachidonate lipoxygenase 3
ARHGAP31 Rho GTPase activating protein 31
ARID1A AT rich interactive domain 1A (SWI-like)
ARID1B AT rich interactive domain 1B (SWI1-like)
ARX aristaless related homeobox
ATL1 atlastin GTPase 1
ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
ATR ATR serine/threonine kinase
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BCR breakpoint cluster region
BMP4 bone morphogenetic protein 4
BMPER BMP binding endothelial regulator
BMPR1B bone morphogenetic protein receptor, type IB
BRAF B-Raf proto-oncogene, serine/threonine kinase
C15ORF41 chromosome 15 open reading frame 41
CARD14 caspase recruitment domain family, member 14
CARD9 caspase recruitment domain family, member 9
CASR calcium-sensing receptor
CCDC22 coiled-coil domain containing 22
CD151 CD151 molecule (Raph blood group)
CDH3 cadherin 3, type 1, P-cadherin (placental)
CDSN corneodesmosin
CERS3 ceramide synthase 3
CHD7 chromodomain helicase DNA binding protein 7
CLEC7A C-type lectin domain family 7, member A
CLIP2 CAP-GLY domain containing linker protein 2
COL11A1 collagen, type XI, alpha 1
COL11A2 collagen, type XI, alpha 2
COL14A1 collagen, type XIV, alpha 1
COL17A1 collagen, type XVII, alpha 1
COL2A1 collagen, type II, alpha 1
COL7A1 collagen, type VII, alpha 1
COX7B cytochrome c oxidase subunit VIIb
CPT2 carnitine palmitoyltransferase 2
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
CTC1 CTS telomere maintenance complex component 1
CTSC cathepsin C
CTSK cathepsin K
CYP4F22 cytochrome P450, family 4, subfamily F, polypeptide 22
DCLRE1C DNA cross-link repair 1C
DKC1 dyskeratosis congenita 1, dyskerin
DLX3 distal-less homeobox 3
DLX5 distal-less homeobox 5
DOCK6 dedicator of cytokinesis 6
DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
DSG1 desmoglein 1
DSG4 desmoglein 4
DSP desmoplakin
DST dystonin
EBP emopamil binding protein (sterol isomerase)
ECE1 endothelin converting enzyme 1
EDA ectodysplasin A
EDAR ectodysplasin A receptor
EDARADD EDAR-associated death domain
EFNB1 ephrin-B1
ELN elastin
ENG endoglin
EOGT EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
EPHX1 epoxide hydrolase 1, microsomal (xenobiotic)
ERCC2 excision repair cross-complementation group 2
ERCC3 excision repair cross-complementation group 3
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FAM111A family with sequence similarity 111, member A
FAM111B family with sequence similarity 111, member B
FAM134B family with sequence similarity 134, member B
FERMT1 fermitin family member 1
FGF9 fibroblast growth factor 9
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FIG4 FIG4 phosphoinositide 5-phosphatase
FLNA filamin A, alpha
FLNB filamin B, beta
FLT4 fms-related tyrosine kinase 4
FOXN1 forkhead box N1
FTO fat mass and obesity associated
FUCA1 fucosidase, alpha-L- 1, tissue
FZD6 frizzled class receptor 6
GDF5 growth differentiation factor 5
GJA1 gap junction protein, alpha 1, 43kDa
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
GLI3 GLI family zinc finger 3
GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
GPC3 glypican 3
GPC4 glypican 4
GTF2H5 general transcription factor IIH, polypeptide 5
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HCCS holocytochrome c synthase
HGD homogentisate 1,2-dioxygenase
HOXA13 homeobox A13
HOXC13 homeobox C13
HPGD hydroxyprostaglandin dehydrogenase 15-(NAD)
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
IL11RA interleukin 11 receptor, alpha
IL17F interleukin 17F
IL17RA interleukin 17 receptor A
IL2RG interleukin 2 receptor, gamma
IL36RN interleukin 36 receptor antagonist
IL7R interleukin 7 receptor
INSR insulin receptor
IRF6 interferon regulatory factor 6
ITGA3 integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)
ITGA6 integrin, alpha 6
ITGB4 integrin, beta 4
JUP junction plakoglobin
KCTD1 potassium channel tetramerization domain containing 1
KIAA0196 KIAA0196
KIF11 kinesin family member 11
KIF1A kinesin family member 1A
KIF22 kinesin family member 22
KRAS Kirsten rat sarcoma viral oncogene homolog
KRT1 keratin 1, type II
KRT14 keratin 14, type I
KRT16 keratin 16, type I
KRT17 keratin 17, type I
KRT5 keratin 5, type II
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
KRT9 keratin 9, type I
LAMA3 laminin, alpha 3
LAMB3 laminin, beta 3
LAMC2 laminin, gamma 2
LBR lamin B receptor
LIG4 ligase IV, DNA, ATP-dependent
LIMK1 LIM domain kinase 1
LIPN lipase, family member N
LMNA lamin A/C
LMX1B LIM homeobox transcription factor 1, beta
LOR loricrin
LPAR6 lysophosphatidic acid receptor 6
LRP4 low density lipoprotein receptor-related protein 4
MAP2K1 mitogen-activated protein kinase kinase 1
MAP2K2 mitogen-activated protein kinase kinase 2
MAPK1 mitogen-activated protein kinase 1
MBTPS2 membrane-bound transcription factor peptidase, site 2
MMP1 matrix metallopeptidase 1
MPLKIP M-phase specific PLK1 interacting protein
MSX1 msh homeobox 1
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NHP2 NHP2 ribonucleoprotein
NIPAL4 NIPA-like domain containing 4
NLRP1 NLR family, pyrin domain containing 1
NOG noggin
NOP10 NOP10 ribonucleoprotein
NOTCH1 notch 1
NOTCH2 notch 2
NPR2 natriuretic peptide receptor 2
NSD1 nuclear receptor binding SET domain protein 1
NSDHL NAD(P) dependent steroid dehydrogenase-like
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
NTRK1 neurotrophic tyrosine kinase, receptor, type 1
OFD1 oral-facial-digital syndrome 1
ORC1 origin recognition complex, subunit 1
PDE4D phosphodiesterase 4D, cAMP-specific
PEPD peptidase D
PIGA phosphatidylinositol glycan anchor biosynthesis, class A
PIGV phosphatidylinositol glycan anchor biosynthesis, class V
PITX1 paired-like homeodomain 1
PKP1 plakophilin 1
PLCD1 phospholipase C, delta 1
PLEC plectin
PLOD3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
PNPLA1 patatin-like phospholipase domain containing 1
POC1A POC1 centriolar protein A
POMP proteasome maturation protein
PORCN porcupine homolog (Drosophila)
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PTDSS1 phosphatidylserine synthase 1
PTEN phosphatase and tensin homolog
PVRL1 poliovirus receptor-related 1 (herpesvirus entry mediator C)
PVRL4 poliovirus receptor-related 4
RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic)
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RAB7A RAB7A, member RAS oncogene family
RAG1 recombination activating gene 1
RAG2 recombination activating gene 2
RBPJ recombination signal binding protein for immunoglobulin kappa J region
RECQL4 RecQ protein-like 4
RFC2 replication factor C (activator 1) 2, 40kDa
RIPK4 receptor-interacting serine-threonine kinase 4
RMRP RNA component of mitochondrial RNA processing endoribonuclease
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
SAT1 spermidine/spermine N1-acetyltransferase 1
SATB2 SATB homeobox 2
SCN9A sodium channel, voltage gated, type IX alpha subunit
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SETBP1 SET binding protein 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
SLC39A4 solute carrier family 39 (zinc transporter), member 4
SLCO2A1 solute carrier organic anion transporter family, member 2A1
SLURP1 secreted LY6/PLAUR domain containing 1
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
SOST sclerostin
SOX11 SRY (sex determining region Y)-box 11
SOX18 SRY (sex determining region Y)-box 18
SRCAP Snf2-related CREBBP activator protein
STAMBP STAM binding protein
STAT1 signal transducer and activator of transcription 1, 91kDa
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
STK11 serine/threonine kinase 11
TAT tyrosine aminotransferase
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)
TGM1 transglutaminase 1
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TMEM173 transmembrane protein 173
TP63 tumor protein p63
TRAF3IP2 TRAF3 interacting protein 2
TRAF6 TNF receptor-associated factor 6, E3 ubiquitin protein ligase
TREX1 three prime repair exonuclease 1
TRPS1 trichorhinophalangeal syndrome I
TRPV3 transient receptor potential cation channel, subfamily V, member 3
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
UBA1 ubiquitin-like modifier activating enzyme 1
UBE2A ubiquitin-conjugating enzyme E2A
UBR1 ubiquitin protein ligase E3 component n-recognin 1
UMPS uridine monophosphate synthetase
UROD uroporphyrinogen decarboxylase
USB1 U6 snRNA biogenesis 1
VEGFC vascular endothelial growth factor C
WDR19 WD repeat domain 19
WDR35 WD repeat domain 35
WNK1 WNK lysine deficient protein kinase 1
WNT10A wingless-type MMTV integration site family, member 10A
WNT5A wingless-type MMTV integration site family, member 5A
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
ZSWIM6 zinc finger, SWIM-type containing 6