Disease: Macrotia
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
PMM2 O15305 phosphomannomutase 2 Enzyme 1.4E-17 0.535 0.769
NALCN Q8IZF0 sodium leak channel, non-selective Ion channel 8.5E-14 0.587 0.615
MAN1B1 Q9UKM7 mannosidase alpha class 1B member 1 Chaperone 1.2E-08 0.606 0.577
NAGLU P54802 N-acetyl-alpha-glucosaminidase 1.4E-08 0.546 0.769
TBCD Q9BTW9 tubulin folding cofactor D Cellular structure 1.0E-07 0.599 0.615
TTI2 Q6NXR4 TELO2 interacting protein 2 3.6E-07 0.736 0.346
KIFBP Q96EK5 kinesin family binding protein 7.6E-02 0.615 0.731
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
FMR1 Q06787 FMRP translational regulator 1 Nucleic acid binding 0.65 0.473 0.769
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
SLC2A1 P11166 solute carrier family 2 member 1 Transporter 0.99 0.388 0.808
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
SLC9A6 Q92581 solute carrier family 9 member A6 Transporter 1.00 0.516 0.846
CDKL5 O76039 cyclin dependent kinase like 5 Kinase 1.00 0.522 0.692
KANSL1 Q7Z3B3 KAT8 regulatory NSL complex subunit 1 1.00 0.592 0.731
GRIN2B Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 1.00 0.510 0.692
PTCH1 Q13635 patched 1 1.00 0.398 0.885
KDM5C P41229 lysine demethylase 5C 1.00 0.581 0.538
SYNGAP1 Q96PV0 synaptic Ras GTPase activating protein 1 Enzyme modulator 1.00 0.584 0.577
KDM6B O15054 lysine demethylase 6B Epigenetic regulator 1.00 0.514 0.808
MED13L Q71F56 mediator complex subunit 13L 1.00 0.617 0.538
SIN3A Q96ST3 SIN3 transcription regulator family member A Enzyme 1.00 0.551 0.692
PHIP Q8WWQ0 pleckstrin homology domain interacting protein Epigenetic regulator 1.00 0.595 0.769
NSD1 Q96L73 nuclear receptor binding SET domain protein 1 Epigenetic regulator 1.00 0.505 0.769
SHANK3 Q9BYB0 SH3 and multiple ankyrin repeat domains 3 1.00 0.550 0.731