Disease: Micrognathism
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
CHRNG P07510 cholinergic receptor nicotinic gamma subunit Ion channel 3.3E-19 0.573 0.692
DNA2 P51530 DNA replication helicase/nuclease 2 1.3E-18 0.626 0.731
COL25A1 Q9BXS0 collagen type XXV alpha 1 chain 1.6E-18 0.599 0.538
ITGA7 Q13683 integrin subunit alpha 7 4.3E-17 0.588 0.654
BRIP1 Q9BX63 BRCA1 interacting protein C-terminal helicase 1 Enzyme 6.2E-17 0.507 0.731
B3GLCT Q6Y288 beta 3-glucosyltransferase Enzyme 7.1E-17 0.554 0.731
MKS1 Q9NXB0 MKS transition zone complex subunit 1 Extracellular structure 3.4E-16 0.505 0.769
KIAA0586 Q9BVV6 KIAA0586 5.1E-16 0.565 0.731
PEX12 O00623 peroxisomal biogenesis factor 12 Transporter 9.5E-16 0.601 0.615
FANCM Q8IYD8 FA complementation group M Enzyme 2.4E-15 0.543 0.731
PEX1 O43933 peroxisomal biogenesis factor 1 1.1E-14 0.538 0.769
PEPD P12955 peptidase D Enzyme 1.5E-14 0.621 0.769
TCTN2 Q96GX1 tectonic family member 2 1.8E-14 0.578 0.654
FANCG O15287 FA complementation group G 2.5E-14 0.556 0.769
COL13A1 Q5TAT6 collagen type XIII alpha 1 chain 3.7E-14 0.608 0.654
RAD51C O43502 RAD51 paralog C 6.2E-14 0.533 0.692
NALCN Q8IZF0 sodium leak channel, non-selective Ion channel 8.5E-14 0.587 0.615
FANCC Q00597 FA complementation group C 2.8E-13 0.507 0.808
DHCR7 Q9UBM7 7-dehydrocholesterol reductase Enzyme 3.9E-13 0.500 0.846
ECEL1 O95672 endothelin converting enzyme like 1 Enzyme 4.8E-13 0.638 0.308
PEX7 O00628 peroxisomal biogenesis factor 7 8.2E-13 0.603 0.615
ERCC4 Q92889 ERCC excision repair 4, endonuclease catalytic subunit Enzyme 1.4E-12 0.468 0.846
YARS2 Q9Y2Z4 tyrosyl-tRNA synthetase 2 Enzyme 3.0E-11 0.663 0.462
ARVCF O00192 ARVCF delta catenin family member Cellular structure 5.0E-11 0.540 0.769
ANKLE2 Q86XL3 ankyrin repeat and LEM domain containing 2 1.0E-10 0.691 0.500