Disease: Congenital Abnormality
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ABO P16442 ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase Enzyme 0.427 0.885
ACE P12821 angiotensin I converting enzyme Enzyme 1.0E-37 0.328 0.923
ACTA2 P62736 actin alpha 2, smooth muscle Cellular structure 0.93 0.508 0.846
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
AGTR2 P50052 angiotensin II receptor type 2 G-protein coupled receptor 8.2E-03 0.496 0.808
AKT1 P31749 AKT serine/threonine kinase 1 Kinase 0.98 0.311 0.962
AR P10275 androgen receptor Nuclear receptor 0.99 0.351 0.846
ARSD P51689 arylsulfatase D Enzyme 1.6E-03 0.535 0.808
AVP P01185 arginine vasopressin Signaling 7.4E-02 0.437 0.846
BCL2 P10415 BCL2 apoptosis regulator Signaling 0.56 0.291 0.885
BDNF P23560 brain derived neurotrophic factor Signaling 0.66 0.345 0.923
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
BRIP1 Q9BX63 BRCA1 interacting protein C-terminal helicase 1 Enzyme 6.2E-17 0.507 0.731
CACNA1C Q13936 calcium voltage-gated channel subunit alpha1 C Ion channel 1.00 0.510 0.846
CASP3 P42574 caspase 3 Enzyme 0.10 0.351 0.923
CD59 P13987 CD59 molecule (CD59 blood group) 0.61 0.469 0.808
COL4A1 P02462 collagen type IV alpha 1 chain 1.00 0.484 0.731
CRP P02741 C-reactive protein 3.7E-03 0.299 0.962
CSRP3 P50461 cysteine and glycine rich protein 3 Cellular structure 1.6E-04 0.572 0.731
DES P17661 desmin 8.8E-03 0.460 0.846
E2F1 Q01094 E2F transcription factor 1 Nucleic acid binding 0.99 0.441 0.846
EDN1 P05305 endothelin 1 Signaling 0.46 0.380 0.846
ELN P15502 elastin 2.1E-14 0.415 0.885