Disease: Depressed nasal bridge
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
RMRP RNA component of mitochondrial RNA processing endoribonuclease 0.519 0.731
CSPP1 Q1MSJ5 centrosome and spindle pole associated protein 1 3.3E-29 0.544 0.769
WDR35 Q9P2L0 WD repeat domain 35 1.0E-22 0.525 0.692
PMM2 O15305 phosphomannomutase 2 Enzyme 1.4E-17 0.535 0.769
B3GLCT Q6Y288 beta 3-glucosyltransferase Enzyme 7.1E-17 0.554 0.731
KIAA0586 Q9BVV6 KIAA0586 5.1E-16 0.565 0.731
PLOD1 Q02809 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 Enzyme 1.5E-15 0.579 0.731
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808
ELN P15502 elastin 2.1E-14 0.415 0.885
TMEM94 Q12767 transmembrane protein 94 2.8E-14 0.628 0.654
FLII Q13045 FLII actin remodeling protein 5.5E-12 0.520 0.808
COL18A1 P39060 collagen type XVIII alpha 1 chain 1.7E-10 0.449 0.808
P4HTM Q9NXG6 prolyl 4-hydroxylase, transmembrane 3.9E-09 0.666 0.500
VARS1 P26640 valyl-tRNA synthetase 1 1.8E-08 0.711 0.500
UBE3B Q7Z3V4 ubiquitin protein ligase E3B 4.2E-08 0.590 0.692
IFT52 Q9Y366 intraflagellar transport 52 2.0E-06 0.653 0.538
SMARCAL1 Q9NZC9 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 2.3E-06 0.599 0.654
CANT1 Q8WVQ1 calcium activated nucleotidase 1 2.5E-06 0.619 0.731
LIG4 P49917 DNA ligase 4 4.2E-06 0.478 0.846
KLHL7 Q8IXQ5 kelch like family member 7 4.6E-05 0.581 0.731
NSUN2 Q08J23 NOP2/Sun RNA methyltransferase 2 Enzyme 2.6E-04 0.559 0.846
DEAF1 O75398 DEAF1 transcription factor 3.4E-04 0.575 0.615
KRAS P01116 KRAS proto-oncogene, GTPase Enzyme modulator 7.9E-04 0.320 0.923
TGIF1 Q15583 TGFB induced factor homeobox 1 Enzyme 1.0E-02 0.588 0.769
ACOX1 Q15067 acyl-CoA oxidase 1 Enzyme 6.2E-02 0.610 0.731