Disease: Congenital Abnormality
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ACE P12821 angiotensin I converting enzyme Enzyme 1.0E-37 0.328 0.923
AMER1 Q5JTC6 APC membrane recruitment protein 1 0.85 0.570 0.654
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
BNC2 Q6ZN30 basonuclin 2 Nucleic acid binding 0.93 0.612 0.615
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
C1QBP Q07021 complement C1q binding protein 2.0E-07 0.569 0.692
CEP290 O15078 centrosomal protein 290 1.1E-60 0.517 0.769
DHCR7 Q9UBM7 7-dehydrocholesterol reductase Enzyme 3.9E-13 0.500 0.846
EBF3 Q9H4W6 EBF transcription factor 3 1.00 0.595 0.731
FANCA O15360 FA complementation group A 1.6E-68 0.505 0.731
FANCB Q8NB91 FA complementation group B 1.00 0.468 0.769
FANCC Q00597 FA complementation group C 2.8E-13 0.507 0.808
FANCD2 Q9BXW9 FA complementation group D2 1.1E-30 0.479 0.885
FANCF Q9NPI8 FA complementation group F 0.46 0.535 0.731
FANCM Q8IYD8 FA complementation group M Enzyme 2.4E-15 0.543 0.731
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
GATA6 Q92908 GATA binding protein 6 1.00 0.478 0.808
GLI3 P10071 GLI family zinc finger 3 1.00 0.436 0.846
GREB1L Q9C091 GREB1 like retinoic acid receptor coactivator 1.00 0.686 0.423
HBA1 P69905 hemoglobin subunit alpha 1 6.7E-03 0.508 0.808
HNF1B P35680 HNF1 homeobox B Nucleic acid binding 1.00 0.473 0.808
HSPA9 P38646 heat shock protein family A (Hsp70) member 9 0.97 0.502 0.885
LHX1 P48742 LIM homeobox 1 Nucleic acid binding 2.9E-02 0.691 0.385