Disease: Anteverted nostril
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
COL11A1 P12107 collagen type XI alpha 1 chain 1.00 0.495 0.846
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
MTOR P42345 mechanistic target of rapamycin kinase Kinase 1.00 0.343 0.885
KIF11 P52732 kinesin family member 11 Cellular structure 1.00 0.560 0.769
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
NOTCH2 Q04721 notch receptor 2 1.00 0.441 0.808
PTCH1 Q13635 patched 1 1.00 0.398 0.885
SMARCA4 P51532 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 Epigenetic regulator 1.00 0.450 0.885
SMARCC2 Q8TAQ2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2 Enzyme 1.00 0.644 0.615
SMC1A Q14683 structural maintenance of chromosomes 1A 1.00 0.509 0.808
ARID1A O14497 AT-rich interaction domain 1A 1.00 0.455 0.846
CASK O14936 calcium/calmodulin dependent serine protein kinase Kinase 1.00 0.538 0.808
SMC3 Q9UQE7 structural maintenance of chromosomes 3 1.00 0.535 0.846
PRPF3 O43395 pre-mRNA processing factor 3 Nucleic acid binding 1.00 0.695 0.385
PRPF8 Q6P2Q9 pre-mRNA processing factor 8 Nucleic acid binding 1.00 0.631 0.615
SNRNP200 O75643 small nuclear ribonucleoprotein U5 subunit 200 1.00 0.695 0.500
NIPBL Q6KC79 NIPBL cohesin loading factor Nucleic acid binding 1.00 0.521 0.808
ARID2 Q68CP9 AT-rich interaction domain 2 1.00 0.543 0.808
AHR P35869 aryl hydrocarbon receptor Transcription factor 1.00 0.410 0.923
RPS6KA3 P51812 ribosomal protein S6 kinase A3 Kinase 1.00 0.491 0.846
SETD5 Q9C0A6 SET domain containing 5 1.00 0.560 0.731
SUFU Q9UMX1 SUFU negative regulator of hedgehog signaling 1.00 0.493 0.769
PRPF4 O43172 pre-mRNA processing factor 4 Nucleic acid binding 1.00 0.670 0.462
LONP1 P36776 lon peptidase 1, mitochondrial Enzyme 1.00 0.517 0.808