Disease: Congenital Abnormality
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ABCB1 P08183 ATP binding cassette subfamily B member 1 Transporter 1.3E-05 0.344 0.885
ALG9 Q9H6U8 ALG9 alpha-1,2-mannosyltransferase Enzyme 6.4E-04 0.644 0.654
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654
CACNA1C Q13936 calcium voltage-gated channel subunit alpha1 C Ion channel 1.00 0.510 0.846
COL4A1 P02462 collagen type IV alpha 1 chain 1.00 0.484 0.731
FLNA P21333 filamin A 1.00 0.419 0.846
FOLR1 P15328 folate receptor alpha 0.13 0.522 0.885
MADD Q8WXG6 MAP kinase activating death domain 1.5E-14 0.644 0.538
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
MEF2C Q06413 myocyte enhancer factor 2C Transcription factor 1.7E-02 0.517 0.769
MTOR P42345 mechanistic target of rapamycin kinase Kinase 1.00 0.343 0.885
NRXN1 P58400 Q9ULB1 neurexin 1 1.00 0.581 0.692
PACS2 Q86VP3 phosphofurin acidic cluster sorting protein 2 1.00 0.700 0.423
PCDH19 Q8TAB3 protocadherin 19 1.00 0.599 0.462
PIGA P37287 phosphatidylinositol glycan anchor biosynthesis class A 0.96 0.575 0.654
PIGO Q8TEQ8 phosphatidylinositol glycan anchor biosynthesis class O 6.1E-11 0.636 0.615
PIGP P57054 phosphatidylinositol glycan anchor biosynthesis class P 1.9E-03 0.633 0.462
PPP3CA Q08209 protein phosphatase 3 catalytic subunit alpha 1.00 0.568 0.769
PRICKLE1 Q96MT3 prickle planar cell polarity protein 1 Cellular structure 1.00 0.647 0.615
SCN1A P35498 sodium voltage-gated channel alpha subunit 1 Ion channel 1.00 0.477 0.808
SLC35A3 Q9Y2D2 solute carrier family 35 member A3 Transporter 2.6E-03 0.716 0.308
SMC1A Q14683 structural maintenance of chromosomes 1A 1.00 0.509 0.808
SPTAN1 Q13813 spectrin alpha, non-erythrocytic 1 1.00 0.601 0.615
STXBP1 P61764 syntaxin binding protein 1 Transporter 1.00 0.532 0.692
SYNGAP1 Q96PV0 synaptic Ras GTPase activating protein 1 Enzyme modulator 1.00 0.584 0.577