Pseudoxanthoma Elasticum Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description An autosomal recessive disease characterized by the accumulation of deposits of calcium and other minerals in elastic fibers, which are a component of connective tissue, this can result in changes in the skin, eyes, cardiovascular system and gastrointestinal system. (Human Disease Ontology, DOID_2738)
External Link https://www.disgenet.org/browser/0/1/0/C1835813
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Genes

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

Symbol Name
ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12
ABCA3 ATP-binding cassette, sub-family A (ABC1), member 3
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4
ABCB6 ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)
ABCC1 ATP-binding cassette, sub-family C (CFTR/MRP), member 1
ABCC2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6
ABCG2 ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)
ACTB actin, beta
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AHSG alpha-2-HS-glycoprotein
ALDH7A1 aldehyde dehydrogenase 7 family, member A1
ALPL alkaline phosphatase, liver/bone/kidney
ANKH ANKH inorganic pyrophosphate transport regulator
APOE apolipoprotein E
APRT adenine phosphoribosyltransferase
CFH complement factor H
EDN1 endothelin 1
ELANE elastase, neutrophil expressed
ELN elastin
EMD emerin
ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1
GGCX gamma-glutamyl carboxylase
GLA galactosidase, alpha
HBB hemoglobin, beta
ICAM1 intercellular adhesion molecule 1
KLHL1 kelch-like family member 1
LOX lysyl oxidase
MFAP1 microfibrillar-associated protein 1
MGP matrix Gla protein
MMP12 matrix metallopeptidase 12
MMP2 matrix metallopeptidase 2
MMP9 matrix metallopeptidase 9
MYH11 myosin, heavy chain 11, smooth muscle
NPIPA1 nuclear pore complex interacting protein family, member A1
NPIPA2 nuclear pore complex interacting protein family, member A2
NPIPA5 nuclear pore complex interacting protein family, member A5
NPIPB11 nuclear pore complex interacting protein family, member B11
NPIPB3 nuclear pore complex interacting protein family, member B3
NT5E 5'-nucleotidase, ecto (CD73)
PCSK9 proprotein convertase subtilisin/kexin type 9
PKD1 polycystic kidney disease 1 (autosomal dominant)
S100A12 S100 calcium binding protein A12
SELE selectin E
SELL selectin L
SELP selectin P (granule membrane protein 140kDa, antigen CD62)
SPP1 secreted phosphoprotein 1
SYCE1L synaptonemal complex central element protein 1-like
TGFB1 transforming growth factor, beta 1
VEGFA vascular endothelial growth factor A
VKORC1 vitamin K epoxide reductase complex, subunit 1
VWF von Willebrand factor
XYLT1 xylosyltransferase I
XYLT2 xylosyltransferase II