Disease: Congenital Abnormality
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ABHD5 Q8WTS1 abhydrolase domain containing 5 6.4E-07 0.641 0.538
ACHE P22303 acetylcholinesterase (Cartwright blood group) Enzyme 1.00 0.445 0.885
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
ANOS1 P23352 anosmin 1 1.00 0.537 0.769
AR P10275 androgen receptor Nuclear receptor 0.99 0.351 0.846
ATP7A Q04656 ATPase copper transporting alpha Transporter 1.00 0.494 0.769
ATXN7 O15265 ataxin 7 0.96 0.581 0.654
BCL2 P10415 BCL2 apoptosis regulator Signaling 0.56 0.291 0.885
BICD2 Q8TD16 BICD cargo adaptor 2 0.98 0.615 0.731
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
BRCA1 P38398 BRCA1 DNA repair associated Enzyme 9.2E-29 0.367 0.923
BRCA2 P51587 BRCA2 DNA repair associated Nucleic acid binding 2.4E-25 0.379 0.846
CASK O14936 calcium/calmodulin dependent serine protein kinase Kinase 1.00 0.538 0.808
CAT P04040 catalase Enzyme 1.6E-10 0.359 0.962
CCL2 P13500 C-C motif chemokine ligand 2 Signaling 0.61 0.321 0.962
CFTR P13569 CF transmembrane conductance regulator Ion channel 2.2E-58 0.424 0.885
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
CHST14 Q8NCH0 carbohydrate sulfotransferase 14 Enzyme 0.45 0.638 0.654
COL4A1 P02462 collagen type IV alpha 1 chain 1.00 0.484 0.731
CPLANE1 Q9H799 ciliogenesis and planar polarity effector 1 5.9E-36 0.575 0.692
CRP P02741 C-reactive protein 3.7E-03 0.299 0.962
CSF2 P04141 colony stimulating factor 2 Signaling 0.83 0.330 0.962
DAG1 Q14118 dystroglycan 1 Receptor 0.98 0.498 0.808
DES P17661 desmin 8.8E-03 0.460 0.846
DUX4 Q9UBX2 double homeobox 4 0.604 0.500