Disease: Low-set, posteriorly rotated ears
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
MYH3 P11055 myosin heavy chain 3 6.7E-21 0.563 0.654
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923
RAD21 O60216 RAD21 cohesin complex component 1.00 0.528 0.846
NELFA Q9H3P2 negative elongation factor complex member A 0.13 0.619 0.615
SHOC2 Q9UQ13 SHOC2 leucine rich repeat scaffold protein 1.00 0.593 0.769
LZTR1 Q8N653 leucine zipper like transcription regulator 1 1.0E-92 0.547 0.808
SMC1A Q14683 structural maintenance of chromosomes 1A 1.00 0.509 0.808
SMC3 Q9UQE7 structural maintenance of chromosomes 3 1.00 0.535 0.846
RAB3GAP1 Q15042 RAB3 GTPase activating protein catalytic subunit 1 1.5E-07 0.566 0.692
TMCO1 Q9UM00 transmembrane and coiled-coil domains 1 9.4E-10 0.588 0.654
SETD5 Q9C0A6 SET domain containing 5 1.00 0.560 0.731
PPP1CB P62140 protein phosphatase 1 catalytic subunit beta Enzyme 1.00 0.601 0.577
KAT6B Q8WYB5 lysine acetyltransferase 6B Enzyme 1.00 0.525 0.731
KRAS P01116 KRAS proto-oncogene, GTPase Enzyme modulator 7.9E-04 0.320 0.923
NF1 P21359 neurofibromin 1 Enzyme modulator 0.90 0.440 0.885
NRAS P01111 NRAS proto-oncogene, GTPase Enzyme modulator 0.49 0.390 0.808
RASA2 Q15283 RAS p21 protein activator 2 Enzyme modulator 7.4E-31 0.579 0.769
RIT1 Q92963 Ras like without CAAX 1 Enzyme modulator 0.13 0.527 0.808
RRAS P10301 RAS related Enzyme modulator 4.7E-03 0.543 0.808
SOS1 Q07889 SOS Ras/Rac guanine nucleotide exchange factor 1 Enzyme modulator 1.00 0.485 0.808
SOS2 Q07890 SOS Ras/Rho guanine nucleotide exchange factor 2 Enzyme modulator 1.00 0.608 0.692
MRAS O14807 muscle RAS oncogene homolog Enzyme modulator 0.92 0.590 0.731
RAB3GAP2 Q9H2M9 RAB3 GTPase activating non-catalytic protein subunit 2 Enzyme modulator 0.99 0.584 0.769
A2ML1 A8K2U0 alpha-2-macroglobulin like 1 Enzyme modulator 1.6E-34 0.590 0.692