Disease: Congenital Abnormality
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
TRNL1 tRNA 0.534 0.731
TMX2-CTNND1 TMX2-CTNND1 readthrough (NMD candidate) 0.538 0.769
PRNP F7VJQ1 P04156 prion protein 6.3E-04 0.445 0.923
ATXN7 O15265 ataxin 7 0.96 0.581 0.654
PMM2 O15305 phosphomannomutase 2 Enzyme 1.4E-17 0.535 0.769
FOXP2 O15409 forkhead box P2 1.00 0.545 0.808
DCX O43602 doublecortin 0.30 0.511 0.769
TIMM8A O60220 translocase of inner mitochondrial membrane 8A 0.65 0.510 0.846
FGF17 O60258 fibroblast growth factor 17 Signaling 0.96 0.593 0.692
SRPX2 O60687 sushi repeat containing protein X-linked 2 4.8E-02 0.621 0.462
CTNND1 O60716 catenin delta 1 Cellular structure 1.00 0.500 0.808
PRKRA O75569 protein activator of interferon induced protein kinase EIF2AK2 Kinase 0.42 0.579 0.615
ADH1C P00326 alcohol dehydrogenase 1C (class I), gamma polypeptide Enzyme 0.547 0.731
HPRT1 P00492 hypoxanthine phosphoribosyltransferase 1 Enzyme 0.94 0.500 0.808
NRAS P01111 NRAS proto-oncogene, GTPase Enzyme modulator 0.49 0.390 0.808
KRAS P01116 KRAS proto-oncogene, GTPase Enzyme modulator 7.9E-04 0.320 0.923
TUBB4A P04350 tubulin beta 4A class IVa Cellular structure 0.11 0.608 0.615
PSAP P07602 prosaposin 0.99 0.532 0.846
PDGFRB P09619 platelet derived growth factor receptor beta Kinase 0.90 0.416 0.846
AR P10275 androgen receptor Nuclear receptor 0.99 0.351 0.846
FGFR1 P11362 fibroblast growth factor receptor 1 Kinase 1.00 0.362 0.885
HOXB1 P14653 homeobox B1 8.2E-02 0.633 0.538
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
ELN P15502 elastin 2.1E-14 0.415 0.885
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885