Disease: Clinodactyly of the 5th finger
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
ATR Q13535 ATR serine/threonine kinase Kinase 3.5E-09 0.456 0.923
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
B3GLCT Q6Y288 beta 3-glucosyltransferase Enzyme 7.1E-17 0.554 0.731
BLM P54132 BLM RecQ like helicase 1.5E-15 0.535 0.808
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
BRIP1 Q9BX63 BRCA1 interacting protein C-terminal helicase 1 Enzyme 6.2E-17 0.507 0.731
BUB1B O60566 BUB1 mitotic checkpoint serine/threonine kinase B Kinase 7.0E-10 0.502 0.808
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
CKAP2L Q8IYA6 cytoskeleton associated protein 2 like 1.6E-04 0.666 0.577
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808
CUL7 Q14999 cullin 7 2.6E-21 0.633 0.500
EBP Q15125 EBP cholestenol delta-isomerase Enzyme 0.94 0.494 0.846
EP300 Q09472 E1A binding protein p300 1.00 0.459 0.846
ESCO2 Q56NI9 establishment of sister chromatid cohesion N-acetyltransferase 2 3.2E-07 0.581 0.615
HDAC8 Q9BY41 histone deacetylase 8 Epigenetic regulator 0.98 0.511 0.885
KIF7 Q2M1P5 kinesin family member 7 2.3E-22 0.528 0.731
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
LIG4 P49917 DNA ligase 4 4.2E-06 0.478 0.846
MASP1 P48740 mannan binding lectin serine peptidase 1 Enzyme 1.2E-11 0.565 0.885
MBD5 Q9P267 methyl-CpG binding domain protein 5 1.00 0.581 0.808
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
NAA10 P41227 N-alpha-acetyltransferase 10, NatA catalytic subunit Enzyme 0.76 0.535 0.692
NSUN2 Q08J23 NOP2/Sun RNA methyltransferase 2 Enzyme 2.6E-04 0.559 0.846
PALB2 Q86YC2 partner and localizer of BRCA2 3.0E-19 0.485 0.769