Disease: Congenital Abnormality
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
KIF3A Q9Y496 kinesin family member 3A Cellular structure 0.90 0.612 0.615
PKHD1 P08F94 PKHD1 ciliary IPT domain containing fibrocystin/polyductin 1.2E-47 0.576 0.654
IFT88 Q13099 intraflagellar transport 88 7.1E-11 0.621 0.654
ALG9 Q9H6U8 ALG9 alpha-1,2-mannosyltransferase Enzyme 6.4E-04 0.644 0.654
PAX2 Q02962 paired box 2 0.67 0.495 0.731
PGD P52209 phosphogluconate dehydrogenase Enzyme 0.99 0.576 0.769
RUNX1 Q01196 RUNX family transcription factor 1 Transcription factor 0.65 0.425 0.808
CD59 P13987 CD59 molecule (CD59 blood group) 0.61 0.469 0.808
CST3 P01034 cystatin C 3.9E-03 0.436 0.808
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
HBA1 P69905 hemoglobin subunit alpha 1 6.7E-03 0.508 0.808
SMAD2 Q15796 SMAD family member 2 Transcription factor 1.00 0.456 0.808
BRD2 P25440 bromodomain containing 2 Epigenetic regulator 1.00 0.450 0.808
SKI P12755 SKI proto-oncogene 1.00 0.503 0.808
HNF1B P35680 HNF1 homeobox B Nucleic acid binding 1.00 0.473 0.808
TSC1 Q92574 TSC complex subunit 1 1.00 0.440 0.808
TSC2 P49815 TSC complex subunit 2 Enzyme modulator 1.00 0.439 0.808
OFD1 O75665 OFD1 centriole and centriolar satellite protein 0.96 0.510 0.808
YAP1 P46937 Yes associated protein 1 Enzyme modulator 1.00 0.432 0.808
SOST Q9BQB4 sclerostin 0.87 0.474 0.808
TRPV4 Q9HBA0 transient receptor potential cation channel subfamily V member 4 Ion channel 2.2E-16 0.457 0.808
ANGPT2 O15123 angiopoietin 2 Signaling 0.83 0.410 0.846
AVP P01185 arginine vasopressin Signaling 7.4E-02 0.437 0.846
CDKN1C P49918 cyclin dependent kinase inhibitor 1C 0.82 0.456 0.846
EDN1 P05305 endothelin 1 Signaling 0.46 0.380 0.846