loose skin Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
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)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0005421
Similar Terms
Downloads & Tools

Genes

14 gene mutations causing the loose skin phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ATOX1 antioxidant 1 copper chaperone
CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit
DCN decorin
DPT dermatopontin
EFEMP1 EGF containing fibulin-like extracellular matrix protein 1
FBLN5 fibulin 5
HAP1 huntingtin-associated protein 1
HR hair growth associated
LOXL1 lysyl oxidase-like 1
LUM lumican
MMP14 matrix metallopeptidase 14 (membrane-inserted)
PPIB peptidylprolyl isomerase B (cyclophilin B)
PSEN1 presenilin 1
TCF15 transcription factor 15 (basic helix-loop-helix)