Disease: Multiple congenital anomalies
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885
GPER1 Q99527 G protein-coupled estrogen receptor 1 G-protein coupled receptor 0.57 0.505 0.731
GRHL3 Q8TE85 grainyhead like transcription factor 3 Transcription factor 0.99 0.572 0.692
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
JAK1 P23458 Janus kinase 1 Kinase 1.00 0.474 0.769
KDM6A O15550 lysine demethylase 6A Epigenetic regulator 1.00 0.498 0.769
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
KYNU Q16719 kynureninase Enzyme 4.2E-18 0.617 0.692
LRP5 O75197 LDL receptor related protein 5 0.51 0.485 0.846
NADSYN1 Q6IA69 NAD synthetase 1 1.3E-16 0.780 0.231
NFIA Q12857 nuclear factor I A Nucleic acid binding 1.00 0.599 0.808
NHS Q6T4R5 NHS actin remodeling regulator 1.00 0.466 0.846
NOTCH1 P46531 notch receptor 1 1.00 0.369 0.885
NTRK1 P04629 neurotrophic receptor tyrosine kinase 1 Kinase 2.0E-06 0.422 0.808
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
POLD1 P28340 DNA polymerase delta 1, catalytic subunit 2.4E-06 0.507 0.769
PPM1D O15297 protein phosphatase, Mg2+/Mn2+ dependent 1D Enzyme 2.2E-11 0.513 0.808
PRF1 P14222 perforin 1 5.5E-06 0.540 0.692
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923
PUF60 Q9UHX1 poly(U) binding splicing factor 60 1.00 0.536 0.769
RAF1 P04049 Raf-1 proto-oncogene, serine/threonine kinase Kinase 0.85 0.418 0.885
RARB P10826 retinoic acid receptor beta Nuclear receptor 1.00 0.478 0.846