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
PPARGC1A Q9UBK2 PPARG coactivator 1 alpha Transcription factor 1.00 0.453 0.885
TRPV4 Q9HBA0 transient receptor potential cation channel subfamily V member 4 Ion channel 2.2E-16 0.457 0.808
ALG9 Q9H6U8 ALG9 alpha-1,2-mannosyltransferase Enzyme 6.4E-04 0.644 0.654
SOST Q9BQB4 sclerostin 0.87 0.474 0.808
TSC1 Q92574 TSC complex subunit 1 1.00 0.440 0.808
HIF1A Q16665 hypoxia inducible factor 1 subunit alpha Transcription factor 0.98 0.327 0.923
NFE2L2 Q16236 nuclear factor, erythroid 2 like 2 Enzyme 3.6E-03 0.357 0.885
SMAD2 Q15796 SMAD family member 2 Transcription factor 1.00 0.456 0.808
PRKD1 Q15139 protein kinase D1 Kinase 6.6E-07 0.531 0.846
AGER Q15109 advanced glycosylation end-product specific receptor Receptor 6.4E-16 0.420 0.885
LAMC2 Q13753 laminin subunit gamma 2 Enzyme modulator 2.9E-12 0.389 0.923
PTCH1 Q13635 patched 1 1.00 0.398 0.885
ATR Q13535 ATR serine/threonine kinase Kinase 3.5E-09 0.456 0.923
IFT88 Q13099 intraflagellar transport 88 7.1E-11 0.621 0.654
PAX2 Q02962 paired box 2 0.67 0.495 0.731
RUNX1 Q01196 RUNX family transcription factor 1 Transcription factor 0.65 0.425 0.808
HBA1 P69905 hemoglobin subunit alpha 1 6.7E-03 0.508 0.808
TGFB2 P61812 transforming growth factor beta 2 Signaling 1.00 0.433 0.885
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
PGD P52209 phosphogluconate dehydrogenase Enzyme 0.99 0.576 0.769
CDKN1C P49918 cyclin dependent kinase inhibitor 1C 0.82 0.456 0.846
TSC2 P49815 TSC complex subunit 2 Enzyme modulator 1.00 0.439 0.808
PIK3CG P48736 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma Kinase 1.4E-06 0.320 0.885
CXCL12 P48061 C-X-C motif chemokine ligand 12 0.12 0.379 0.846