Disease: Exophthalmos
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
AUTS2 Q8WXX7 activator of transcription and developmental regulator AUTS2 1.00 0.569 0.846
COL1A1 P02452 collagen type I alpha 1 chain 1.00 0.430 0.808
CPLX1 O14810 complexin 1 0.82 0.576 0.654
CRIPT Q9P021 CXXC repeat containing interactor of PDZ3 domain 9.8E-04 0.716 0.308
CTBP1 Q13363 C-terminal binding protein 1 Transcription factor 0.98 0.559 0.692
DMD P11532 dystrophin 1.00 0.423 0.923
FANCA O15360 FA complementation group A 1.6E-68 0.505 0.731
FANCC Q00597 FA complementation group C 2.8E-13 0.507 0.808
FANCD2 Q9BXW9 FA complementation group D2 1.1E-30 0.479 0.885
FANCE Q9HB96 FA complementation group E 1.5E-06 0.553 0.808
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
FGFRL1 Q8N441 fibroblast growth factor receptor like 1 Enzyme 1.2E-02 0.588 0.615
GATA6 Q92908 GATA binding protein 6 1.00 0.478 0.808
H19 H19 imprinted maternally expressed transcript 0.494 0.923
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769
IGF1 P05019 insulin like growth factor 1 0.27 0.318 0.885
IGF2 P01344 insulin like growth factor 2 4.4E-02 0.390 0.885
INSR P06213 insulin receptor Kinase 3.6E-05 0.432 0.846
LETM1 O95202 leucine zipper and EF-hand containing transmembrane protein 1 Transporter 1.2E-06 0.545 0.692
MUSK O15146 muscle associated receptor tyrosine kinase Kinase 4.2E-08 0.570 0.769
NSD2 O96028 nuclear receptor binding SET domain protein 2 Epigenetic regulator 1.00 0.507 0.769
POR P16435 cytochrome p450 oxidoreductase 3.4E-10 0.502 0.769
RECQL4 O94761 RecQ like helicase 4 Enzyme 3.3E-35 0.496 0.808
TGFB3 P10600 transforming growth factor beta 3 Signaling 0.99 0.498 0.808
THRB P10828 thyroid hormone receptor beta Nuclear receptor 1.00 0.554 0.769