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
AHR P35869 aryl hydrocarbon receptor Transcription factor 1.00 0.410 0.923
AIRE O43918 autoimmune regulator 4.0E-12 0.516 0.808
ALDH2 P05091 aldehyde dehydrogenase 2 family member Enzyme 3.4E-10 0.457 0.885
ALMS1 Q8TCU4 ALMS1 centrosome and basal body associated protein 4.5E-60 0.559 0.808
ATF6 P18850 activating transcription factor 6 3.2E-07 0.516 0.846
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
ATXN7 O15265 ataxin 7 0.96 0.581 0.654
BBS2 Q9BXC9 Bardet-Biedl syndrome 2 1.0E-17 0.565 0.654
CACNA1C Q13936 calcium voltage-gated channel subunit alpha1 C Ion channel 1.00 0.510 0.846
ESR1 P03372 estrogen receptor 1 Nuclear receptor 1.00 0.324 0.962
FOXC2 Q99958 forkhead box C2 Transcription factor 0.13 0.515 0.731
FOXE3 Q13461 forkhead box E3 Transcription factor 0.18 0.568 0.654
GJB2 P29033 gap junction protein beta 2 Cell-cell junction 6.6E-16 0.441 0.846
GJB6 O95452 gap junction protein beta 6 Cell-cell junction 1.7E-07 0.528 0.808
HLA-A P04439 major histocompatibility complex, class I, A 1.3E-03 0.370 0.846
IFT88 Q13099 intraflagellar transport 88 7.1E-11 0.621 0.654
IL10 P22301 interleukin 10 5.9E-03 0.281 0.923
ITGB6 P18564 integrin subunit beta 6 Receptor 1.6E-22 0.597 0.692
MBTPS2 O43462 membrane bound transcription factor peptidase, site 2 Enzyme 1.00 0.513 0.769
MITF O75030 melanocyte inducing transcription factor 0.98 0.499 0.808
NLRP3 Q96P20 NLR family pyrin domain containing 3 8.1E-04 0.361 0.962
OFD1 O75665 OFD1 centriole and centriolar satellite protein 0.96 0.510 0.808
PER2 O15055 period circadian regulator 2 Transcription factor 0.71 0.488 0.846
ROM1 Q03395 retinal outer segment membrane protein 1 4.1E-04 0.579 0.654