Disease: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
AHSA1 O95433 activator of HSP90 ATPase activity 1 1.00 0.396 0.923
AIMP2 Q13155 aminoacyl tRNA synthetase complex interacting multifunctional protein 2 8.0E-03 0.393 0.923
CASP3 P42574 caspase 3 Enzyme 0.10 0.351 0.923
CRK P46108 CRK proto-oncogene, adaptor protein 0.96 0.394 0.923
CTCF P49711 CCCTC-binding factor Transcription factor 1.00 0.504 0.769
GABPA Q06546 GA binding protein transcription factor subunit alpha Transcription factor 1.00 0.379 0.885
GRAP2 O75791 GRB2 related adaptor protein 2 1.5E-04 0.394 0.923
HIF1A Q16665 hypoxia inducible factor 1 subunit alpha Transcription factor 0.98 0.327 0.923
LCT P09848 lactase Enzyme 6.0E-02 0.581 0.808
MAPK1 P28482 mitogen-activated protein kinase 1 Kinase 1.00 0.330 0.923
MAPK14 Q16539 mitogen-activated protein kinase 14 Kinase 0.37 0.379 0.923
MIR206 microRNA 206 0.477 0.846
MIR27A microRNA 27a 0.466 0.846
NFE2L2 Q16236 nuclear factor, erythroid 2 like 2 Enzyme 3.6E-03 0.357 0.885
PLAU P00749 plasminogen activator, urokinase Enzyme 2.3E-06 0.425 0.923
POLDIP2 Q9Y2S7 DNA polymerase delta interacting protein 2 0.41 0.396 0.923
RNF19A Q9NV58 ring finger protein 19A, RBR E3 ubiquitin protein ligase Enzyme 2.5E-02 0.397 0.923
TET1 Q8NFU7 tet methylcytosine dioxygenase 1 1.00 0.523 0.808
TP53 P04637 tumor protein p53 Transcription factor 0.53 0.236 0.962