Disease: Macrocephaly
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ABCC9 O60706 ATP binding cassette subfamily C member 9 Transporter 9.4E-09 0.552 0.692
AKT1 P31749 AKT serine/threonine kinase 1 Kinase 0.98 0.311 0.962
AMER1 Q5JTC6 APC membrane recruitment protein 1 0.85 0.570 0.654
ANKH Q9HCJ1 ANKH inorganic pyrophosphate transport regulator Transporter 0.28 0.606 0.692
B4GALT7 Q9UBV7 beta-1,4-galactosyltransferase 7 1.1E-04 0.628 0.654
BMP2 P12643 bone morphogenetic protein 2 Signaling 0.99 0.432 0.846
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
CSF1R P07333 colony stimulating factor 1 receptor Kinase 0.13 0.448 0.808
DLL3 Q9NYJ7 delta like canonical Notch ligand 3 5.4E-05 0.552 0.654
DYNC2H1 Q8NCM8 dynein cytoplasmic 2 heavy chain 1 Enzyme 1.1E-44 0.555 0.731
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
FGFR1 P11362 fibroblast growth factor receptor 1 Kinase 1.00 0.362 0.885
FGFR3 P22607 fibroblast growth factor receptor 3 Kinase 1.6E-05 0.391 0.846
FZD2 Q14332 frizzled class receptor 2 G-protein coupled receptor 0.65 0.558 0.654
GH1 P01241 growth hormone 1 Signaling 3.0E-02 0.373 0.923
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885
GLI3 P10071 GLI family zinc finger 3 1.00 0.436 0.846
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 0.68 0.420 0.885
IDUA P35475 alpha-L-iduronidase Enzyme 3.8E-13 0.499 0.846
IFT80 Q9P2H3 intraflagellar transport 80 1.4E-19 0.575 0.692
IHH Q14623 Indian hedgehog signaling molecule 0.31 0.573 0.538
INPP5E Q9NRR6 inositol polyphosphate-5-phosphatase E 3.1E-03 0.561 0.615
KCNJ8 Q15842 potassium inwardly rectifying channel subfamily J member 8 Ion channel 0.38 0.619 0.538
KIF22 Q14807 kinesin family member 22 Cellular structure 9.2E-10 0.552 0.654
KRAS P01116 KRAS proto-oncogene, GTPase Enzyme modulator 7.9E-04 0.320 0.923