Disease: Dysmorphic facies
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
MANBA O00462 mannosidase beta Enzyme 1.3E-18 0.736 0.462
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
CPLX1 O14810 complexin 1 0.82 0.576 0.654
MEFV O15553 MEFV innate immuity regulator, pyrin 1.0E-14 0.440 0.885
PDE6D O43924 phosphodiesterase 6D Enzyme 6.4E-03 0.623 0.577
DPM2 O94777 dolichyl-phosphate mannosyltransferase subunit 2, regulatory 0.32 0.666 0.500
KCNH1 O95259 potassium voltage-gated channel subfamily H member 1 Ion channel 0.55 0.542 0.731
PGM3 O95394 phosphoglucomutase 3 1.5E-05 0.610 0.769
TDP2 O95551 tyrosyl-DNA phosphodiesterase 2 1.1E-08 0.628 0.462
TGFB1 P01137 transforming growth factor beta 1 Signaling 3.7E-02 0.287 0.962
CSTB P04080 cystatin B Enzyme modulator 6.6E-03 0.530 0.692
EZR P15311 ezrin Cellular structure 0.18 0.476 0.808
RPL10 P27635 ribosomal protein L10 Nucleic acid binding 0.91 0.568 0.731
PPP2R1A P30153 protein phosphatase 2 scaffold subunit Aalpha Enzyme 0.98 0.588 0.577
ADSL P30566 adenylosuccinate lyase Enzyme 8.9E-12 0.631 0.654
CLIP1 P30622 CAP-Gly domain containing linker protein 1 Cellular structure 0.68 0.617 0.654
HIVEP2 P31629 HIVEP zinc finger 2 1.00 0.711 0.500
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
NUP214 P35658 nucleoporin 214 Nucleic acid binding 5.5E-02 0.638 0.385
SOX11 P35716 SRY-box transcription factor 11 Transcription factor 0.86 0.494 0.808
ARL3 P36405 ADP ribosylation factor like GTPase 3 1.4E-03 0.603 0.615
BMPR1A P36894 bone morphogenetic protein receptor type 1A Kinase 0.90 0.522 0.731
MTOR P42345 mechanistic target of rapamycin kinase Kinase 1.00 0.343 0.885
NKX2-1 P43699 NK2 homeobox 1 Transcription factor 0.36 0.457 0.808
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808