Disease: Micrognathism
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
SRY Q05066 sex determining region Y Transcription factor 0.456 0.808
H19 H19 imprinted maternally expressed transcript 0.494 0.923
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing) 0.556 0.808
FANCA O15360 FA complementation group A 1.6E-68 0.505 0.731
CEP290 O15078 centrosomal protein 290 1.1E-60 0.517 0.769
MCTP2 Q6DN12 multiple C2 and transmembrane domain containing 2 6.0E-52 0.623 0.577
PKHD1 P08F94 PKHD1 ciliary IPT domain containing fibrocystin/polyductin 1.2E-47 0.576 0.654
CENPF P49454 centromere protein F 1.9E-36 0.601 0.654
CPLANE1 Q9H799 ciliogenesis and planar polarity effector 1 5.9E-36 0.575 0.692
RECQL4 O94761 RecQ like helicase 4 Enzyme 3.3E-35 0.496 0.808
FIG4 Q92562 FIG4 phosphoinositide 5-phosphatase 2.3E-34 0.551 0.731
RPGRIP1L Q68CZ1 RPGRIP1 like Enzyme modulator 4.1E-31 0.534 0.769
FANCD2 Q9BXW9 FA complementation group D2 1.1E-30 0.479 0.885
BRCA1 P38398 BRCA1 DNA repair associated Enzyme 9.2E-29 0.367 0.923
BRCA2 P51587 BRCA2 DNA repair associated Nucleic acid binding 2.4E-25 0.379 0.846
TMEM67 Q5HYA8 transmembrane protein 67 2.1E-24 0.512 0.769
PAH P00439 phenylalanine hydroxylase 6.4E-23 0.516 0.769
WDR35 Q9P2L0 WD repeat domain 35 1.0E-22 0.525 0.692
KIF7 Q2M1P5 kinesin family member 7 2.3E-22 0.528 0.731
DPYD Q12882 dihydropyrimidine dehydrogenase Enzyme 3.4E-22 0.493 0.846
PIGN O95427 phosphatidylinositol glycan anchor biosynthesis class N Extracellular structure 2.3E-21 0.558 0.615
IFT80 Q9P2H3 intraflagellar transport 80 1.4E-19 0.575 0.692
BRIP1 Q9BX63 BRCA1 interacting protein C-terminal helicase 1 Enzyme 6.2E-17 0.507 0.731
FANCM Q8IYD8 FA complementation group M Enzyme 2.4E-15 0.543 0.731
ELN P15502 elastin 2.1E-14 0.415 0.885