Disease: Congenital Abnormality
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
TUBB4A P04350 tubulin beta 4A class IVa Cellular structure 0.11 0.608 0.615
TUBB3 Q13509 tubulin beta 3 class III Cellular structure 2.6E-10 0.486 0.808
TRPV4 Q9HBA0 transient receptor potential cation channel subfamily V member 4 Ion channel 2.2E-16 0.457 0.808
TPM3 P06753 tropomyosin 3 Cellular structure 6.7E-03 0.490 0.808
TMEM165 Q9HC07 transmembrane protein 165 Transporter 0.28 0.711 0.385
TELO2 Q9Y4R8 telomere maintenance 2 7.2E-14 0.695 0.500
TCTN3 Q6NUS6 tectonic family member 3 4.2E-12 0.566 0.615
SOX9 P48436 SRY-box transcription factor 9 1.00 0.419 0.846
SON P18583 SON DNA binding protein 1.00 0.565 0.769
RYR1 P21817 ryanodine receptor 1 Ion channel 1.6E-29 0.489 0.808
RPS6KA3 P51812 ribosomal protein S6 kinase A3 Kinase 1.00 0.491 0.846
RECQL4 O94761 RecQ like helicase 4 Enzyme 3.3E-35 0.496 0.808
RAB3GAP1 Q15042 RAB3 GTPase activating protein catalytic subunit 1 1.5E-07 0.566 0.692
RAB23 Q9ULC3 RAB23, member RAS oncogene family 5.6E-03 0.541 0.654
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923
PTCH1 Q13635 patched 1 1.00 0.398 0.885
POMT1 Q9Y6A1 protein O-mannosyltransferase 1 4.2E-17 0.525 0.615
PMP22 Q01453 peripheral myelin protein 22 Cellular structure 0.91 0.471 0.885
PMM2 O15305 phosphomannomutase 2 Enzyme 1.4E-17 0.535 0.769
PLOD1 Q02809 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 Enzyme 1.5E-15 0.579 0.731
PAX1 P15863 paired box 1 0.70 0.593 0.654
PAPSS2 O95340 3'-phosphoadenosine 5'-phosphosulfate synthase 2 Enzyme 2.0E-10 0.682 0.462
NRAS P01111 NRAS proto-oncogene, GTPase Enzyme modulator 0.49 0.390 0.808
NAA10 P41227 N-alpha-acetyltransferase 10, NatA catalytic subunit Enzyme 0.76 0.535 0.692
MESP2 Q0VG99 mesoderm posterior bHLH transcription factor 2 3.1E-06 0.653 0.462