acrocyanosis Gene Set
Genes
31 genes associated with the acrocyanosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
| Symbol |
Name |
|
AGXT
|
alanine-glyoxylate aminotransferase
|
|
C5ORF42
|
chromosome 5 open reading frame 42
|
|
CALR
|
calreticulin
|
|
CAV1
|
caveolin 1, caveolae protein, 22kDa
|
|
CCR6
|
chemokine (C-C motif) receptor 6
|
|
CDKL5
|
cyclin-dependent kinase-like 5
|
|
CECR1
|
cat eye syndrome chromosome region, candidate 1
|
|
CEP126
|
centrosomal protein 126kDa
|
|
COL3A1
|
collagen, type III, alpha 1
|
|
CTGF
|
connective tissue growth factor
|
|
DNASE1L3
|
deoxyribonuclease I-like 3
|
|
FOXG1
|
forkhead box G1
|
|
FUCA1
|
fucosidase, alpha-L- 1, tissue
|
|
HLA-DRB1
|
major histocompatibility complex, class II, DR beta 1
|
|
IKBKAP
|
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
|
|
IRF5
|
interferon regulatory factor 5
|
|
KIAA0319L
|
KIAA0319-like
|
|
LBR
|
lamin B receptor
|
|
LMNA
|
lamin A/C
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MVK
|
mevalonate kinase
|
|
NTNG1
|
netrin G1
|
|
PAX3
|
paired box 3
|
|
PTPN22
|
protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
|
|
SEPT9
|
septin 9
|
|
SH2B3
|
SH2B adaptor protein 3
|
|
TGFB1
|
transforming growth factor, beta 1
|
|
THPO
|
thrombopoietin
|
|
TNXB
|
tenascin XB
|
|
TREX1
|
three prime repair exonuclease 1
|
|
ZMPSTE24
|
zinc metallopeptidase STE24
|
