prematurely aged appearance Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0007495
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Genes

71 genes associated with the prematurely aged appearance phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ANTXR1 anthrax toxin receptor 1
ATM ATM serine/threonine kinase
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
ATR ATR serine/threonine kinase
ATRIP ATR interacting protein
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
BAZ1B bromodomain adjacent to zinc finger domain, 1B
CENPJ centromere protein J
CEP152 centrosomal protein 152kDa
CLIP2 CAP-GLY domain containing linker protein 2
COL3A1 collagen, type III, alpha 1
CTC1 CTS telomere maintenance complex component 1
DKC1 dyskeratosis congenita 1, dyskerin
EDA ectodysplasin A
EDAR ectodysplasin A receptor
EDN3 endothelin 3
EDNRB endothelin receptor type B
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2
ELN elastin
ERCC3 excision repair cross-complementation group 3
ERCC4 excision repair cross-complementation group 4
ERCC6 excision repair cross-complementation group 6
ERCC8 excision repair cross-complementation group 8
FBLN5 fibulin 5
FGFR2 fibroblast growth factor receptor 2
GHR growth hormone receptor
GORAB golgin, RAB6-interacting
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
INSR insulin receptor
KRT14 keratin 14, type I
KRT5 keratin 5, type II
LIMK1 LIM domain kinase 1
LMNA lamin A/C
LMNB2 lamin B2
MED12 mediator complex subunit 12
MITF microphthalmia-associated transcription factor
MTAP methylthioadenosine phosphorylase
MYO5A myosin VA (heavy chain 12, myoxin)
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NHP2 NHP2 ribonucleoprotein
NOP10 NOP10 ribonucleoprotein
PAX3 paired box 3
PCNT pericentrin
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
PTDSS1 phosphatidylserine synthase 1
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
PYCR1 pyrroline-5-carboxylate reductase 1
RAB27A RAB27A, member RAS oncogene family
RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic)
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RBBP8 retinoblastoma binding protein 8
RECQL4 RecQ protein-like 4
RFC2 replication factor C (activator 1) 2, 40kDa
RTEL1 regulator of telomere elongation helicase 1
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
SNAI2 snail family zinc finger 2
SOX10 SRY (sex determining region Y)-box 10
TBL2 transducin (beta)-like 2
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
TWIST2 twist family bHLH transcription factor 2
USB1 U6 snRNA biogenesis 1
WRAP53 WD repeat containing, antisense to TP53
WRN Werner syndrome, RecQ helicase-like
ZMPSTE24 zinc metallopeptidase STE24
ZNF469 zinc finger protein 469