Disease: Congenital Abnormality
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ABCA12 Q86UK0 ATP binding cassette subfamily A member 12 Transporter 2.9E-15 0.610 0.654
AHI1 Q8N157 Abelson helper integration site 1 1.1E-25 0.513 0.846
ARL13B Q3SXY8 ADP ribosylation factor like GTPase 13B 2.7E-09 0.631 0.538
CEP290 O15078 centrosomal protein 290 1.1E-60 0.517 0.769
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
CPLANE1 Q9H799 ciliogenesis and planar polarity effector 1 5.9E-36 0.575 0.692
EBP Q15125 EBP cholestenol delta-isomerase Enzyme 0.94 0.494 0.846
EFNB1 P98172 ephrin B1 Signaling 0.93 0.561 0.769
EVC2 Q86UK5 EvC ciliary complex subunit 2 1.0E-34 0.585 0.692
FANCB Q8NB91 FA complementation group B 1.00 0.468 0.769
FLI1 Q01543 Fli-1 proto-oncogene, ETS transcription factor Transcription factor 0.99 0.468 0.692
GJB6 O95452 gap junction protein beta 6 Cell-cell junction 1.7E-07 0.528 0.808
HIRA P54198 histone cell cycle regulator Nucleic acid binding 1.00 0.537 0.808
HYLS1 Q96M11 HYLS1 centriolar and ciliogenesis associated 2.3E-09 0.572 0.692
KIF7 Q2M1P5 kinesin family member 7 2.3E-22 0.528 0.731
LMBR1 Q8WVP7 limb development membrane protein 1 Receptor 1.3E-08 0.619 0.308
NPHP1 O15259 nephrocystin 1 1.2E-17 0.572 0.731
OFD1 O75665 OFD1 centriole and centriolar satellite protein 0.96 0.510 0.808
PIK3CA P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1.00 0.292 0.923
PORCN Q9H237 porcupine O-acyltransferase Enzyme 1.00 0.545 0.692
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
RAI1 Q7Z5J4 retinoic acid induced 1 Transcription factor 1.00 0.545 0.731
RBM10 P98175 RNA binding motif protein 10 1.00 0.599 0.615
RPGRIP1L Q68CZ1 RPGRIP1 like Enzyme modulator 4.1E-31 0.534 0.769
SEMA3E O15041 semaphorin 3E Signaling 8.7E-09 0.515 0.769