Disease: Blepharophimosis
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
BAZ1B Q9UIG0 bromodomain adjacent to zinc finger domain 1B 1.00 0.530 0.731
BCOR Q6W2J9 BCL6 corepressor 1.00 0.471 0.808
CLIP2 Q9UDT6 CAP-Gly domain containing linker protein 2 Cellular structure 1.00 0.529 0.808
DACT1 Q9NYF0 dishevelled binding antagonist of beta catenin 1 0.40 0.547 0.692
DCHS1 Q96JQ0 dachsous cadherin-related 1 1.00 0.592 0.731
ELN P15502 elastin 2.1E-14 0.415 0.885
FAT4 Q6V0I7 FAT atypical cadherin 4 1.00 0.539 0.808
GTF2I P78347 general transcription factor IIi 1.00 0.500 0.808
GTF2IRD1 Q9UHL9 GTF2I repeat domain containing 1 0.90 0.522 0.769
HNF1B P35680 HNF1 homeobox B Nucleic acid binding 1.00 0.473 0.808
KAT6B Q8WYB5 lysine acetyltransferase 6B Enzyme 1.00 0.525 0.731
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
LIMK1 P53667 LIM domain kinase 1 Kinase 1.00 0.488 0.731
MLXIPL Q9NP71 MLX interacting protein like 4.8E-02 0.554 0.731
PIEZO2 Q9H5I5 piezo type mechanosensitive ion channel component 2 Ion channel 8.1E-07 0.529 0.769
RFC2 P35250 replication factor C subunit 2 Enzyme 2.2E-06 0.520 0.769
SALL1 Q9NSC2 spalt like transcription factor 1 Transcription factor 1.00 0.539 0.808
SOX9 P48436 SRY-box transcription factor 9 1.00 0.419 0.846
STRA6 Q9BX79 signaling receptor and transporter of retinol STRA6 1.5E-10 0.597 0.731
TBL2 Q9Y4P3 transducin beta like 2 1.8E-04 0.538 0.731
TBX1 O43435 T-box transcription factor 1 Transcription factor 0.84 0.433 0.808
TXNL4A P83876 thioredoxin like 4A 7.2E-05 0.711 0.385
WDR35 Q9P2L0 WD repeat domain 35 1.0E-22 0.525 0.692