Disease: Congenital Abnormality
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ALG9 Q9H6U8 ALG9 alpha-1,2-mannosyltransferase Enzyme 6.4E-04 0.644 0.654
IFT88 Q13099 intraflagellar transport 88 7.1E-11 0.621 0.654
KIF3A Q9Y496 kinesin family member 3A Cellular structure 0.90 0.612 0.615
PGD P52209 phosphogluconate dehydrogenase Enzyme 0.99 0.576 0.769
PKHD1 P08F94 PKHD1 ciliary IPT domain containing fibrocystin/polyductin 1.2E-47 0.576 0.654
PRKD1 Q15139 protein kinase D1 Kinase 6.6E-07 0.531 0.846
FGF7 P21781 fibroblast growth factor 7 Signaling 0.77 0.519 0.846
OFD1 O75665 OFD1 centriole and centriolar satellite protein 0.96 0.510 0.808
HBA1 P69905 hemoglobin subunit alpha 1 6.7E-03 0.508 0.808
SKI P12755 SKI proto-oncogene 1.00 0.503 0.808
PAX2 Q02962 paired box 2 0.67 0.495 0.731
SOST Q9BQB4 sclerostin 0.87 0.474 0.808
HNF1B P35680 HNF1 homeobox B Nucleic acid binding 1.00 0.473 0.808
CD59 P13987 CD59 molecule (CD59 blood group) 0.61 0.469 0.808
CREB1 P16220 cAMP responsive element binding protein 1 1.00 0.463 0.885
TRPV4 Q9HBA0 transient receptor potential cation channel subfamily V member 4 Ion channel 2.2E-16 0.457 0.808
ATR Q13535 ATR serine/threonine kinase Kinase 3.5E-09 0.456 0.923
CDKN1C P49918 cyclin dependent kinase inhibitor 1C 0.82 0.456 0.846
SMAD2 Q15796 SMAD family member 2 Transcription factor 1.00 0.456 0.808
PPARGC1A Q9UBK2 PPARG coactivator 1 alpha Transcription factor 1.00 0.453 0.885
BRD2 P25440 bromodomain containing 2 Epigenetic regulator 1.00 0.450 0.808
CFH P08603 complement factor H 0.86 0.441 0.885
PRKCA P17252 protein kinase C alpha Kinase 0.37 0.440 0.846
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