Disease: Multiple congenital anomalies
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ABCC9 O60706 ATP binding cassette subfamily C member 9 Transporter 9.4E-09 0.552 0.692
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
ACTG1 P63261 actin gamma 1 Cellular structure 4.8E-03 0.477 0.846
ANOS1 P23352 anosmin 1 1.00 0.537 0.769
BMP7 P18075 bone morphogenetic protein 7 Signaling 0.13 0.498 0.769
CANT1 Q8WVQ1 calcium activated nucleotidase 1 2.5E-06 0.619 0.731
CDH23 Q9H251 cadherin related 23 3.2E-06 0.539 0.769
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
COL11A1 P12107 collagen type XI alpha 1 chain 1.00 0.495 0.846
COL1A2 P08123 collagen type I alpha 2 chain 1.00 0.486 0.846
CSF1R P07333 colony stimulating factor 1 receptor Kinase 0.13 0.448 0.808
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
FKBP10 Q96AY3 FKBP prolyl isomerase 10 2.4E-06 0.606 0.538
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 0.68 0.420 0.885
GPER1 Q99527 G protein-coupled estrogen receptor 1 G-protein coupled receptor 0.57 0.505 0.731
JAK1 P23458 Janus kinase 1 Kinase 1.00 0.474 0.769
LRP5 O75197 LDL receptor related protein 5 0.51 0.485 0.846
NSD1 Q96L73 nuclear receptor binding SET domain protein 1 Epigenetic regulator 1.00 0.505 0.769
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
POLD1 P28340 DNA polymerase delta 1, catalytic subunit 2.4E-06 0.507 0.769
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
PYCR1 P32322 pyrroline-5-carboxylate reductase 1 2.0E-04 0.570 0.654
RAB3GAP1 Q15042 RAB3 GTPase activating protein catalytic subunit 1 1.5E-07 0.566 0.692