skin disease Gene Set

Dataset DISEASES Curated Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description An integumentary system disease that is located_in skin. (Human Disease Ontology, DOID_37)
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Genes

73 genes involed in the disease skin disease from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

Symbol Name
AAGAB alpha- and gamma-adaptin binding protein
ABCB6 ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
AQP5 aquaporin 5
ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
ATP2C1 ATPase, Ca++ transporting, type 2C, member 1
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
ATP7A ATPase, Cu++ transporting, alpha polypeptide
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
CAV1 caveolin 1, caveolae protein, 22kDa
CD151 CD151 molecule (Raph blood group)
COL17A1 collagen, type XVII, alpha 1
COL7A1 collagen, type VII, alpha 1
CTSC cathepsin C
DCLRE1B DNA cross-link repair 1B
DKC1 dyskeratosis congenita 1, dyskerin
DSG1 desmoglein 1
DSP desmoplakin
DST dystonin
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2
ELN elastin
EXPH5 exophilin 5
F12 coagulation factor XII (Hageman factor)
FBLN5 fibulin 5
GJB2 gap junction protein, beta 2, 26kDa
GJB3 gap junction protein, beta 3, 31kDa
GJB4 gap junction protein, beta 4, 30.3kDa
GJB6 gap junction protein, beta 6, 30kDa
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
ITGA3 integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)
ITGA6 integrin, alpha 6
ITGB4 integrin, beta 4
ITPKC inositol-trisphosphate 3-kinase C
JUP junction plakoglobin
KRT1 keratin 1, type II
KRT10 keratin 10, type I
KRT13 keratin 13, type I
KRT14 keratin 14, type I
KRT16 keratin 16, type I
KRT17 keratin 17, type I
KRT4 keratin 4, type II
KRT5 keratin 5, type II
KRT6A keratin 6A, type II
KRT6B keratin 6B, type II
KRT6C keratin 6C, type II
KRT9 keratin 9, type I
LAMA3 laminin, alpha 3
LAMB3 laminin, beta 3
LAMC2 laminin, gamma 2
LOR loricrin
MBTPS2 membrane-bound transcription factor peptidase, site 2
NCSTN nicastrin
NHP2 NHP2 ribonucleoprotein
NOP10 NOP10 ribonucleoprotein
PLEC plectin
POMP proteasome maturation protein
PSEN1 presenilin 1
PSENEN presenilin enhancer gamma secretase subunit
PTRF polymerase I and transcript release factor
RECQL4 RecQ protein-like 4
RHBDF2 rhomboid 5 homolog 2 (Drosophila)
RSPO1 R-spondin 1
RTEL1 regulator of telomere elongation helicase 1
SERPINB7 serpin peptidase inhibitor, clade B (ovalbumin), member 7
SERPING1 serpin peptidase inhibitor, clade G (C1 inhibitor), member 1
SLURP1 secreted LY6/PLAUR domain containing 1
SNAP29 synaptosomal-associated protein, 29kDa
TAT tyrosine aminotransferase
TERT telomerase reverse transcriptase
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TRPV3 transient receptor potential cation channel, subfamily V, member 3
WNT10A wingless-type MMTV integration site family, member 10A
WRAP53 WD repeat containing, antisense to TP53