Disease: Congenital Abnormality
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
AHI1 Q8N157 Abelson helper integration site 1 1.1E-25 0.513 0.846
ATXN7 O15265 ataxin 7 0.96 0.581 0.654
BBS2 Q9BXC9 Bardet-Biedl syndrome 2 1.0E-17 0.565 0.654
BCL2 P10415 BCL2 apoptosis regulator Signaling 0.56 0.291 0.885
BDNF P23560 brain derived neurotrophic factor Signaling 0.66 0.345 0.923
CCL2 P13500 C-C motif chemokine ligand 2 Signaling 0.61 0.321 0.962
CFH P08603 complement factor H 0.86 0.441 0.885
CLTC Q00610 clathrin heavy chain Transporter 1.00 0.558 0.769
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
GDNF P39905 glial cell derived neurotrophic factor Signaling 0.20 0.434 0.885
IFT80 Q9P2H3 intraflagellar transport 80 1.4E-19 0.575 0.692
KCNJ10 P78508 potassium inwardly rectifying channel subfamily J member 10 Ion channel 0.15 0.599 0.654
LMNA P02545 lamin A/C 1.00 0.384 0.885
MAB21L1 Q13394 mab-21 like 1 0.29 0.736 0.192
NOS3 P29474 nitric oxide synthase 3 6.7E-07 0.378 0.885
NPHP1 O15259 nephrocystin 1 1.2E-17 0.572 0.731
OFD1 O75665 OFD1 centriole and centriolar satellite protein 0.96 0.510 0.808
PPP3CA Q08209 protein phosphatase 3 catalytic subunit alpha 1.00 0.568 0.769
RPE65 Q16518 retinoid isomerohydrolase RPE65 Enzyme 6.5E-14 0.417 0.808
RPGR Q92834 retinitis pigmentosa GTPase regulator 1.00 0.536 0.692
RPGRIP1L Q68CZ1 RPGRIP1 like Enzyme modulator 4.1E-31 0.534 0.769
SOD1 P00441 superoxide dismutase 1 Enzyme 0.18 0.379 0.962
STXBP1 P61764 syntaxin binding protein 1 Transporter 1.00 0.532 0.692
SYNGAP1 Q96PV0 synaptic Ras GTPase activating protein 1 Enzyme modulator 1.00 0.584 0.577
TMEM67 Q5HYA8 transmembrane protein 67 2.1E-24 0.512 0.769