Disease: Aplasia/Hypoplasia of the corpus callosum
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
KRAS P01116 KRAS proto-oncogene, GTPase Enzyme modulator 7.9E-04 0.320 0.923
FGFR1 P11362 fibroblast growth factor receptor 1 Kinase 1.00 0.362 0.885
HRAS P01112 HRas proto-oncogene, GTPase Enzyme modulator 8.0E-02 0.378 0.885
NRAS P01111 NRAS proto-oncogene, GTPase Enzyme modulator 0.49 0.390 0.808
TSC2 P49815 TSC complex subunit 2 Enzyme modulator 1.00 0.439 0.808
TSC1 Q92574 TSC complex subunit 1 1.00 0.440 0.808
BCOR Q6W2J9 BCL6 corepressor 1.00 0.471 0.808
LRP2 P98164 LDL receptor related protein 2 1.00 0.491 0.846
SUFU Q9UMX1 SUFU negative regulator of hedgehog signaling 1.00 0.493 0.769
DHCR7 Q9UBM7 7-dehydrocholesterol reductase Enzyme 3.9E-13 0.500 0.846
MKS1 Q9NXB0 MKS transition zone complex subunit 1 Extracellular structure 3.4E-16 0.505 0.769
FKTN O75072 fukutin 8.7E-07 0.511 0.692
TMEM67 Q5HYA8 transmembrane protein 67 2.1E-24 0.512 0.769
AHI1 Q8N157 Abelson helper integration site 1 1.1E-25 0.513 0.846
CEP290 O15078 centrosomal protein 290 1.1E-60 0.517 0.769
CC2D2A Q9P2K1 coiled-coil and C2 domain containing 2A 1.7E-27 0.532 0.692
RPGRIP1L Q68CZ1 RPGRIP1 like Enzyme modulator 4.1E-31 0.534 0.769
NAA10 P41227 N-alpha-acetyltransferase 10, NatA catalytic subunit Enzyme 0.76 0.535 0.692
POMGNT1 Q8WZA1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 1.9E-20 0.537 0.538
TMEM216 Q9P0N5 transmembrane protein 216 1.9E-03 0.544 0.615
CSPP1 Q1MSJ5 centrosome and spindle pole associated protein 1 3.3E-29 0.544 0.769
TMEM231 Q9H6L2 transmembrane protein 231 3.1E-07 0.554 0.692
B3GLCT Q6Y288 beta 3-glucosyltransferase Enzyme 7.1E-17 0.554 0.731
INPP5E Q9NRR6 inositol polyphosphate-5-phosphatase E 3.1E-03 0.561 0.615
CEP120 Q8N960 centrosomal protein 120 4.1E-15 0.564 0.731