Disease: Congenital Abnormality
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
MIPOL1 Q8TD10 mirror-image polydactyly 1 2.1E-11 0.890 0.192
KPNA7 A9QM74 karyopherin subunit alpha 7 3.4E-15 0.805 0.308
SMG9 Q9H0W8 SMG9 nonsense mediated mRNA decay factor 3.5E-13 0.729 0.346
HNRNPR O43390 heterogeneous nuclear ribonucleoprotein R Nucleic acid binding 1.00 0.722 0.308
PCDH12 Q9NPG4 protocadherin 12 2.9E-13 0.722 0.346
CNOT3 O75175 CCR4-NOT transcription complex subunit 3 Transcription factor 1.00 0.686 0.615
SMCHD1 A6NHR9 structural maintenance of chromosomes flexible hinge domain containing 1 1.00 0.631 0.615
MID1 O15344 midline 1 0.98 0.621 0.654
CFDP1 Q9UEE9 craniofacial development protein 1 3.7E-03 0.619 0.615
MED13L Q71F56 mediator complex subunit 13L 1.00 0.617 0.538
CDK13 Q14004 cyclin dependent kinase 13 Kinase 0.91 0.606 0.692
G6PC3 Q9BUM1 glucose-6-phosphatase catalytic subunit 3 4.7E-06 0.606 0.731
SMARCAL1 Q9NZC9 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 2.3E-06 0.599 0.654
SPECC1L Q69YQ0 sperm antigen with calponin homology and coiled-coil domains 1 like 0.86 0.593 0.654
TGIF1 Q15583 TGFB induced factor homeobox 1 Enzyme 1.0E-02 0.588 0.769
TMCO1 Q9UM00 transmembrane and coiled-coil domains 1 9.4E-10 0.588 0.654
SYNGAP1 Q96PV0 synaptic Ras GTPase activating protein 1 Enzyme modulator 1.00 0.584 0.577
NRXN1 P58400 Q9ULB1 neurexin 1 1.00 0.581 0.692
MEIS1 O00470 Meis homeobox 1 Enzyme 1.00 0.579 0.615
EXT2 Q93063 exostosin glycosyltransferase 2 Enzyme 1.3E-09 0.576 0.654
TBX4 P57082 T-box transcription factor 4 Transcription factor 0.50 0.576 0.731
PIGA P37287 phosphatidylinositol glycan anchor biosynthesis class A 0.96 0.575 0.654
PQBP1 O60828 polyglutamine binding protein 1 Transcription factor 0.79 0.570 0.654
PLAGL1 Q9UM63 PLAG1 like zinc finger 1 0.98 0.566 0.769
BBS2 Q9BXC9 Bardet-Biedl syndrome 2 1.0E-17 0.565 0.654