Disease: Congenital Abnormality
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ABCD1 P33897 ATP binding cassette subfamily D member 1 Transporter 1.00 0.563 0.731
AHI1 Q8N157 Abelson helper integration site 1 1.1E-25 0.513 0.846
AIRE O43918 autoimmune regulator 4.0E-12 0.516 0.808
ALMS1 Q8TCU4 ALMS1 centrosome and basal body associated protein 4.5E-60 0.559 0.808
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808
ANOS1 P23352 anosmin 1 1.00 0.537 0.769
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
ARNT2 Q9HBZ2 aryl hydrocarbon receptor nuclear translocator 2 Transcription factor 0.99 0.599 0.731
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654
ATF6 P18850 activating transcription factor 6 3.2E-07 0.516 0.846
ATXN7 O15265 ataxin 7 0.96 0.581 0.654
BDNF P23560 brain derived neurotrophic factor Signaling 0.66 0.345 0.923
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
CASK O14936 calcium/calmodulin dependent serine protein kinase Kinase 1.00 0.538 0.808
CDH23 Q9H251 cadherin related 23 3.2E-06 0.539 0.769
CEP290 O15078 centrosomal protein 290 1.1E-60 0.517 0.769
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
COL4A1 P02462 collagen type IV alpha 1 chain 1.00 0.484 0.731
CYP1B1 Q16678 cytochrome P450 family 1 subfamily B member 1 Enzyme 2.2E-05 0.457 0.769
ELMO2 Q96JJ3 engulfment and cell motility 2 Signaling 1.0E-05 0.729 0.538
ELN P15502 elastin 2.1E-14 0.415 0.885
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