Disease: Aplasia Cutis Congenita
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
CDKN2A P42771 Q8N726 cyclin dependent kinase inhibitor 2A 0.39 0.300 0.885
TMED7 Q86XR7 Q9Y3B3 transmembrane p24 trafficking protein 7 Transporter 0.48 0.436 0.808
TP53 P04637 tumor protein p53 Transcription factor 0.53 0.236 0.962
BCL2 P10415 BCL2 apoptosis regulator Signaling 0.56 0.291 0.885
ESRRA P11474 estrogen related receptor alpha Nuclear receptor 0.60 0.548 0.654
CDKN1B P46527 cyclin dependent kinase inhibitor 1B 0.62 0.409 0.769
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 0.68 0.420 0.885
CRH P06850 corticotropin releasing hormone Signaling 0.72 0.439 0.808
TGFA P01135 transforming growth factor alpha Signaling 0.72 0.432 0.885
HSP90AA1 P07900 heat shock protein 90 alpha family class A member 1 Chaperone 0.86 0.411 0.923
CCND1 P24385 cyclin D1 Enzyme modulator 0.89 0.344 0.923
MSH2 P43246 mutS homolog 2 Nucleic acid binding 0.90 0.406 0.808
IGF1R P08069 insulin like growth factor 1 receptor Kinase 0.97 0.399 0.885
NR3C1 P04150 nuclear receptor subfamily 3 group C member 1 Nuclear receptor 0.97 0.393 0.885
RPS6KB1 P23443 ribosomal protein S6 kinase B1 Kinase 0.97 0.511 0.731
AKT1 P31749 AKT serine/threonine kinase 1 Kinase 0.98 0.311 0.962
HIF1A Q16665 hypoxia inducible factor 1 subunit alpha Transcription factor 0.98 0.327 0.923
KIT P10721 KIT proto-oncogene, receptor tyrosine kinase Kinase 0.98 0.366 0.808
TERT O14746 telomerase reverse transcriptase Enzyme 0.99 0.374 0.846
PTGS2 P35354 prostaglandin-endoperoxide synthase 2 Enzyme 1.00 0.314 0.962
SRC P12931 SRC proto-oncogene, non-receptor tyrosine kinase Kinase 1.00 0.467 0.885
MYC P01106 MYC proto-oncogene, bHLH transcription factor Transcription factor 1.00 0.344 0.923
MAPK8 P45983 mitogen-activated protein kinase 8 Kinase 1.00 0.397 0.885
PIK3CB P42338 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta Kinase 1.00 0.322 0.885
MEN1 O00255 menin 1 1.00 0.444 0.808