Disease: Multiple congenital anomalies
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ACAN P16112 aggrecan Extracellular structure 1.00 0.528 0.846
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
ACVR1 Q04771 activin A receptor type 1 Kinase 0.33 0.535 0.731
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
ARNTL O00327 aryl hydrocarbon receptor nuclear translocator like Transcription factor 0.99 0.510 0.885
ASPM Q8IZT6 abnormal spindle microtubule assembly 3.4E-49 0.526 0.769
CCND2 P30279 cyclin D2 Enzyme modulator 0.99 0.477 0.808
CECR cat eye syndrome chromosome region 0.599 0.731
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
CYP21A2 P08686 cytochrome P450 family 21 subfamily A member 2 2.6E-04 0.525 0.769
DHCR7 Q9UBM7 7-dehydrocholesterol reductase Enzyme 3.9E-13 0.500 0.846
DOCK1 Q14185 dedicator of cytokinesis 1 6.8E-03 0.641 0.577
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
FLT4 P35916 fms related receptor tyrosine kinase 4 Kinase 1.00 0.457 0.808
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 0.68 0.420 0.885
GSK3B P49841 glycogen synthase kinase 3 beta Kinase 0.96 0.430 0.846
HRAS P01112 HRas proto-oncogene, GTPase Enzyme modulator 8.0E-02 0.378 0.885
KIF7 Q2M1P5 kinesin family member 7 2.3E-22 0.528 0.731
LRP5 O75197 LDL receptor related protein 5 0.51 0.485 0.846
NHS Q6T4R5 NHS actin remodeling regulator 1.00 0.466 0.846
NOTCH1 P46531 notch receptor 1 1.00 0.369 0.885
PIK3CA P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1.00 0.292 0.923
PIK3R2 O00459 phosphoinositide-3-kinase regulatory subunit 2 Enzyme modulator 1.6E-02 0.551 0.808
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923