cutis laxa Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description A skin disease characterized by skin that is loose, hanging, wrinkled and lacking in elasticity; it can also affect connective tissue in other parts of the body, including the heart, blood vessels, joints, intestines and lungs. (Human Disease Ontology, DOID_3144)
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Genes

57 genes co-occuring with the disease cutis laxa in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
FBLN5 fibulin 5 2.71702
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2 2.22339
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2 2.16132
LAX1 lymphocyte transmembrane adaptor 1 2.1387
PYCR1 pyrroline-5-carboxylate reductase 1 2.12368
ELN elastin 2.10615
GORAB golgin, RAB6-interacting 2.07396
ALDH18A1 aldehyde dehydrogenase 18 family, member A1 2.05991
RIN2 Ras and Rab interactor 2 1.77586
GSN gelsolin 1.69633
COG7 component of oligomeric golgi complex 7 1.50755
PYCRL pyrroline-5-carboxylate reductase-like 1.48208
PYCR2 pyrroline-5-carboxylate reductase family, member 2 1.48208
FBN1 fibrillin 1 1.34286
GGCX gamma-glutamyl carboxylase 1.23863
LOX lysyl oxidase 1.16821
LTBP4 latent transforming growth factor beta binding protein 4 1.1173
APOC3 apolipoprotein C-III 1.10048
TALDO1 transaldolase 1 1.0816
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6 1.04335
ALG8 ALG8, alpha-1,3-glucosyltransferase 1.02819
B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 0.901156
KCNB1 potassium channel, voltage gated Shab related subfamily B, member 1 0.878605
PMM2 phosphomannomutase 2 0.779023
SLC3A2 solute carrier family 3 (amino acid transporter heavy chain), member 2 0.770435
ATP7A ATPase, Cu++ transporting, alpha polypeptide 0.731786
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10 0.722886
PSMB8 proteasome (prosome, macropain) subunit, beta type, 8 0.695905
LOXL1 lysyl oxidase-like 1 0.658422
FBN2 fibrillin 2 0.644192
DNAH8 dynein, axonemal, heavy chain 8 0.631991
SPTBN1 spectrin, beta, non-erythrocytic 1 0.597961
TF transferrin 0.590558
CP ceruloplasmin (ferroxidase) 0.502675
ELF3 E74-like factor 3 (ets domain transcription factor, epithelial-specific ) 0.468063
VKORC1 vitamin K epoxide reductase complex, subunit 1 0.428516
EFEMP1 EGF containing fibulin-like extracellular matrix protein 1 0.413901
RPIA ribose 5-phosphate isomerase A 0.396725
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 0.36704
MGAT4C MGAT4 family, member C 0.360395
FN1 fibronectin 1 0.353763
IFT122 intraflagellar transport 122 0.353027
PTGIS prostaglandin I2 (prostacyclin) synthase 0.344574
CLEC2A C-type lectin domain family 2, member A 0.324094
HRAS Harvey rat sarcoma viral oncogene homolog 0.294413
B4GALT5 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5 0.266913
LAMB2 laminin, beta 2 (laminin S) 0.257005
ARHGEF1 Rho guanine nucleotide exchange factor (GEF) 1 0.241196
ATP12A ATPase, H+/K+ transporting, nongastric, alpha polypeptide 0.205916
ATP4A ATPase, H+/K+ exchanging, alpha polypeptide 0.205585
MMP3 matrix metallopeptidase 3 0.194865
ATF4 activating transcription factor 4 0.193285
TGFB1 transforming growth factor, beta 1 0.180652
CD79A CD79a molecule, immunoglobulin-associated alpha 0.178403
BGN biglycan 0.175679
CTSG cathepsin G 0.164786
MMP1 matrix metallopeptidase 1 0.160387