Disease: Depressed nasal bridge
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
RMRP RNA component of mitochondrial RNA processing endoribonuclease 0.519 0.731
CASK O14936 calcium/calmodulin dependent serine protein kinase Kinase 1.00 0.538 0.808
PMM2 O15305 phosphomannomutase 2 Enzyme 1.4E-17 0.535 0.769
RAD21 O60216 RAD21 cohesin complex component 1.00 0.528 0.846
ZEB2 O60315 zinc finger E-box binding homeobox 2 Transcription factor 1.00 0.471 0.808
ACSL4 O60488 acyl-CoA synthetase long chain family member 4 Enzyme 0.98 0.561 0.769
DEAF1 O75398 DEAF1 transcription factor 3.4E-04 0.575 0.615
MAF O75444 MAF bZIP transcription factor Transcription factor 0.74 0.623 0.769
EED O75530 embryonic ectoderm development 1.00 0.588 0.615
KCNH1 O95259 potassium voltage-gated channel subfamily H member 1 Ion channel 0.55 0.542 0.731
ADAMTS2 O95450 ADAM metallopeptidase with thrombospondin type 1 motif 2 Enzyme 0.97 0.579 0.808
NRAS P01111 NRAS proto-oncogene, GTPase Enzyme modulator 0.49 0.390 0.808
KRAS P01116 KRAS proto-oncogene, GTPase Enzyme modulator 7.9E-04 0.320 0.923
COL1A1 P02452 collagen type I alpha 1 chain 1.00 0.430 0.808
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
TFAP2A P05549 transcription factor AP-2 alpha Transcription factor 0.99 0.488 0.769
COL11A1 P12107 collagen type XI alpha 1 chain 1.00 0.495 0.846
BMP2 P12643 bone morphogenetic protein 2 Signaling 0.99 0.432 0.846
SKI P12755 SKI proto-oncogene 1.00 0.503 0.808
COL11A2 P13942 collagen type XI alpha 2 chain 0.70 0.435 0.846
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
GLUL P15104 glutamate-ammonia ligase Enzyme 1.00 0.513 0.731
ELN P15502 elastin 2.1E-14 0.415 0.885
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885
SON P18583 SON DNA binding protein 1.00 0.565 0.769