Disease: Congenital Abnormality
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ABCA12 Q86UK0 ATP binding cassette subfamily A member 12 Transporter 2.9E-15 0.610 0.654
AKT1 P31749 AKT serine/threonine kinase 1 Kinase 0.98 0.311 0.962
ALG9 Q9H6U8 ALG9 alpha-1,2-mannosyltransferase Enzyme 6.4E-04 0.644 0.654
ALPL P05186 alkaline phosphatase, biomineralization associated Enzyme 3.6E-04 0.546 0.769
ASPM Q8IZT6 abnormal spindle microtubule assembly 3.4E-49 0.526 0.769
AUTS2 Q8WXX7 activator of transcription and developmental regulator AUTS2 1.00 0.569 0.846
BCAR1 P56945 BCAR1 scaffold protein, Cas family member 1.00 0.518 0.846
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
CDH11 P55287 cadherin 11 1.00 0.512 0.808
CDKN1C P49918 cyclin dependent kinase inhibitor 1C 0.82 0.456 0.846
CITED2 Q99967 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 Transcription factor 0.76 0.576 0.654
COL3A1 P02461 collagen type III alpha 1 chain 1.00 0.477 0.808
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808
CSE1L P55060 chromosome segregation 1 like Enzyme modulator 1.00 0.521 0.808
CTNND1 O60716 catenin delta 1 Cellular structure 1.00 0.500 0.808
DHCR7 Q9UBM7 7-dehydrocholesterol reductase Enzyme 3.9E-13 0.500 0.846
ELMO2 Q96JJ3 engulfment and cell motility 2 Signaling 1.0E-05 0.729 0.538
EP300 Q09472 E1A binding protein p300 1.00 0.459 0.846
ERF P50548 ETS2 repressor factor Transcription factor 0.99 0.572 0.654
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