Disease: Brachydactyly
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ADAMTS10 Q9H324 ADAM metallopeptidase with thrombospondin type 1 motif 10 Enzyme 0.84 0.641 0.500
ADNP Q9H2P0 activity dependent neuroprotector homeobox 1.00 0.561 0.808
ALX1 Q15699 ALX homeobox 1 0.18 0.636 0.462
ATP7A Q04656 ATPase copper transporting alpha Transporter 1.00 0.494 0.769
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
B3GLCT Q6Y288 beta 3-glucosyltransferase Enzyme 7.1E-17 0.554 0.731
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
CHST3 Q7LGC8 carbohydrate sulfotransferase 3 7.2E-03 0.517 0.846
COL11A1 P12107 collagen type XI alpha 1 chain 1.00 0.495 0.846
CTSK P43235 cathepsin K Enzyme 3.1E-05 0.497 0.808
DEAF1 O75398 DEAF1 transcription factor 3.4E-04 0.575 0.615
EFNB1 P98172 ephrin B1 Signaling 0.93 0.561 0.769
EHMT1 Q9H9B1 euchromatic histone lysine methyltransferase 1 Epigenetic regulator 1.00 0.460 0.808
ERF P50548 ETS2 repressor factor Transcription factor 0.99 0.572 0.654
ESCO2 Q56NI9 establishment of sister chromatid cohesion N-acetyltransferase 2 3.2E-07 0.581 0.615
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
FGFR1 P11362 fibroblast growth factor receptor 1 Kinase 1.00 0.362 0.885
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
FGFR3 P22607 fibroblast growth factor receptor 3 Kinase 1.6E-05 0.391 0.846
FLII Q13045 FLII actin remodeling protein 5.5E-12 0.520 0.808
GABRD O14764 gamma-aminobutyric acid type A receptor subunit delta Ion channel 0.99 0.558 0.692
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885
HDAC8 Q9BY41 histone deacetylase 8 Epigenetic regulator 0.98 0.511 0.885
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769