Disease: Congenital Abnormality
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ABCB1 P08183 ATP binding cassette subfamily B member 1 Transporter 1.3E-05 0.344 0.885
ACE P12821 angiotensin I converting enzyme Enzyme 1.0E-37 0.328 0.923
AMELX Q99217 amelogenin X-linked 7.5E-02 0.599 0.769
BRCA2 P51587 BRCA2 DNA repair associated Nucleic acid binding 2.4E-25 0.379 0.846
CCL2 P13500 C-C motif chemokine ligand 2 Signaling 0.61 0.321 0.962
CCND1 P24385 cyclin D1 Enzyme modulator 0.89 0.344 0.923
CDKN2B P42772 cyclin dependent kinase inhibitor 2B 7.3E-03 0.417 0.769
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
EGFR P00533 epidermal growth factor receptor Kinase 0.37 0.295 0.885
FOXI1 Q12951 forkhead box I1 Transcription factor 0.77 0.686 0.462
HNF1B P35680 HNF1 homeobox B Nucleic acid binding 1.00 0.473 0.808
HTC2 hypertrichosis 2 (generalized, congenital) 0.392 0.808
KCNJ10 P78508 potassium inwardly rectifying channel subfamily J member 10 Ion channel 0.15 0.599 0.654
MTHFR P42898 methylenetetrahydrofolate reductase 3.2E-10 0.337 0.885
PDSS1 Q5T2R2 decaprenyl diphosphate synthase subunit 1 3.2E-08 0.628 0.615
PTHLH P12272 parathyroid hormone like hormone 0.81 0.453 0.846
RET P07949 ret proto-oncogene Kinase 1.00 0.392 0.885
SLC26A4 O43511 solute carrier family 26 member 4 Transporter 9.0E-22 0.507 0.885
SMAD4 Q13485 SMAD family member 4 Transcription factor 1.00 0.401 0.808
SOST Q9BQB4 sclerostin 0.87 0.474 0.808
TBX4 P57082 T-box transcription factor 4 Transcription factor 0.50 0.576 0.731
TNF P01375 tumor necrosis factor Signaling 0.80 0.231 0.962
VDR P11473 vitamin D receptor Nuclear receptor 1.7E-05 0.352 0.885
WT1 P19544 WT1 transcription factor Nucleic acid binding 1.00 0.422 0.808