Progeria Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description OMIM mapping confirmed by DO. [SN]. (Human Disease Ontology, DOID_3911)
External Link https://www.disgenet.org/browser/0/1/0/C0033300
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Genes

112 genes associated with the disease Progeria in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
A2M alpha-2-macroglobulin
ACAN aggrecan
ACTB actin, beta
ADIPOQ adiponectin, C1Q and collagen domain containing
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALDH18A1 aldehyde dehydrogenase 18 family, member A1
ALPL alkaline phosphatase, liver/bone/kidney
AMPD1 adenosine monophosphate deaminase 1
ANK3 ankyrin 3, node of Ranvier (ankyrin G)
APRT adenine phosphoribosyltransferase
ATM ATM serine/threonine kinase
BANF1 barrier to autointegration factor 1
BGLAP bone gamma-carboxyglutamate (gla) protein
BRCA1 breast cancer 1, early onset
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
CD55 CD55 molecule, decay accelerating factor for complement (Cromer blood group)
CDH5 cadherin 5, type 2 (vascular endothelium)
CDKN2A cyclin-dependent kinase inhibitor 2A
CRP C-reactive protein, pentraxin-related
CTC1 CTS telomere maintenance complex component 1
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
DES desmin
EDIL3 EGF-like repeats and discoidin I-like domains 3
EHMT1 euchromatic histone-lysine N-methyltransferase 1
ELN elastin
ERCC1 excision repair cross-complementation group 1
ERCC2 excision repair cross-complementation group 2
ERCC4 excision repair cross-complementation group 4
ERCC6 excision repair cross-complementation group 6
FDPS farnesyl diphosphate synthase
FGF23 fibroblast growth factor 23
FOXM1 forkhead box M1
GABPA GA binding protein transcription factor, alpha subunit 60kDa
GADD45B growth arrest and DNA-damage-inducible, beta
GFAP glial fibrillary acidic protein
GGCT gamma-glutamylcyclotransferase
GGT1 gamma-glutamyltransferase 1
GGTLC3 gamma-glutamyltransferase light chain 3
GH1 growth hormone 1
GJA1 gap junction protein, alpha 1, 43kDa
GLB1 galactosidase, beta 1
GOLGA6A golgin A6 family, member A
GTF2H5 general transcription factor IIH, polypeptide 5
H2AX H2A.X variant histone
HDAC2 histone deacetylase 2
HFM1 HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)
HIP1 huntingtin interacting protein 1
HMOX1 heme oxygenase 1
HTRA2 HtrA serine peptidase 2
ICMT isoprenylcysteine carboxyl methyltransferase
IGF1 insulin-like growth factor 1 (somatomedin C)
ING1 inhibitor of growth family, member 1
KCNMA1 potassium channel, calcium activated large conductance subfamily M alpha, member 1
KL klotho
KLF4 Kruppel-like factor 4 (gut)
LEMD2 LEM domain containing 2
LMNA lamin A/C
LMNB1 lamin B1
LMNB2 lamin B2
MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase
MFAP1 microfibrillar-associated protein 1
MGME1 mitochondrial genome maintenance exonuclease 1
MTOR mechanistic target of rapamycin (serine/threonine kinase)
MXD1 MAX dimerization protein 1
NAT10 N-acetyltransferase 10 (GCN5-related)
NFE2L2 nuclear factor, erythroid 2-like 2
NQO1 NAD(P)H dehydrogenase, quinone 1
PECAM1 platelet/endothelial cell adhesion molecule 1
PLA2G1B phospholipase A2, group IB (pancreas)
PLA2R1 phospholipase A2 receptor 1, 180kDa
PLB1 phospholipase B1
PLG plasminogen
POU5F1 POU class 5 homeobox 1
PRELP proline/arginine-rich end leucine-rich repeat protein
PRKAA1 protein kinase, AMP-activated, alpha 1 catalytic subunit
PRKAA2 protein kinase, AMP-activated, alpha 2 catalytic subunit
PRKAB1 protein kinase, AMP-activated, beta 1 non-catalytic subunit
PRPS1 phosphoribosyl pyrophosphate synthetase 1
PYCR1 pyrroline-5-carboxylate reductase 1
RAD51 RAD51 recombinase
RAN RAN, member RAS oncogene family
RARB retinoic acid receptor, beta
RCBTB1 regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1
ROBO3 roundabout, axon guidance receptor, homolog 3 (Drosophila)
ROS1 ROS proto-oncogene 1 , receptor tyrosine kinase
SETD2 SET domain containing 2
SFN stratifin
SIRT1 sirtuin 1
SIRT6 sirtuin 6
SMURF2 SMAD specific E3 ubiquitin protein ligase 2
SOST sclerostin
SOX2 SRY (sex determining region Y)-box 2
SPRTN SprT-like N-terminal domain
SQSTM1 sequestosome 1
SREBF1 sterol regulatory element binding transcription factor 1
SRSF1 serine/arginine-rich splicing factor 1
SRSF5 serine/arginine-rich splicing factor 5
SRSF6 serine/arginine-rich splicing factor 6
SUN1 Sad1 and UNC84 domain containing 1
TIMP1 TIMP metallopeptidase inhibitor 1
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
TNPO1 transportin 1
TP53 tumor protein p53
TP53BP1 tumor protein p53 binding protein 1
TPR translocated promoter region, nuclear basket protein
TWIST2 twist family bHLH transcription factor 2
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
WRN Werner syndrome, RecQ helicase-like
XPA xeroderma pigmentosum, complementation group A
XPO1 exportin 1
YWHAZ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta
ZMPSTE24 zinc metallopeptidase STE24