Disease: Blepharophimosis
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
BRCA1 P38398 BRCA1 DNA repair associated Enzyme 9.2E-29 0.367 0.923
CHN1 P15882 chimerin 1 3.1E-02 0.573 0.615
COL25A1 Q9BXS0 collagen type XXV alpha 1 chain 1.6E-18 0.599 0.538
DCHS1 Q96JQ0 dachsous cadherin-related 1 1.00 0.592 0.731
FAT4 Q6V0I7 FAT atypical cadherin 4 1.00 0.539 0.808
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769
KAT6B Q8WYB5 lysine acetyltransferase 6B Enzyme 1.00 0.525 0.731
KCNJ2 P63252 potassium inwardly rectifying channel subfamily J member 2 Ion channel 0.31 0.572 0.731
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
KRAS P01116 KRAS proto-oncogene, GTPase Enzyme modulator 7.9E-04 0.320 0.923
LMNA P02545 lamin A/C 1.00 0.384 0.885
MAFB Q9Y5Q3 MAF bZIP transcription factor B Transcription factor 0.90 0.565 0.731
MOGS Q13724 mannosyl-oligosaccharide glucosidase 5.8E-11 0.626 0.731
MUSK O15146 muscle associated receptor tyrosine kinase Kinase 4.2E-08 0.570 0.769
MYCN P04198 MYCN proto-oncogene, bHLH transcription factor Transcription factor 0.89 0.454 0.808
ORC1 Q13415 origin recognition complex subunit 1 Nucleic acid binding 1.7E-14 0.595 0.654
PIEZO2 Q9H5I5 piezo type mechanosensitive ion channel component 2 Ion channel 8.1E-07 0.529 0.769
SLC2A10 O95528 solute carrier family 2 member 10 Transporter 1.6E-08 0.550 0.615
SMAD4 Q13485 SMAD family member 4 Transcription factor 1.00 0.401 0.808
SMARCA2 P51531 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 Epigenetic regulator 1.00 0.527 0.769
SMOC1 Q9H4F8 SPARC related modular calcium binding 1 Calcium-binding protein 9.5E-03 0.565 0.846
SOX9 P48436 SRY-box transcription factor 9 1.00 0.419 0.846
STAC3 Q96MF2 SH3 and cysteine rich domain 3 1.7E-04 0.633 0.654
TBX1 O43435 T-box transcription factor 1 Transcription factor 0.84 0.433 0.808