Disease: Congenital Abnormality
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ALMS1 Q8TCU4 ALMS1 centrosome and basal body associated protein 4.5E-60 0.559 0.808
AUTS2 Q8WXX7 activator of transcription and developmental regulator AUTS2 1.00 0.569 0.846
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
CRH P06850 corticotropin releasing hormone Signaling 0.72 0.439 0.808
CRKL P46109 CRK like proto-oncogene, adaptor protein 0.45 0.553 0.769
DISC1 Q9NRI5 DISC1 scaffold protein 1.7E-06 0.548 0.769
EHMT1 Q9H9B1 euchromatic histone lysine methyltransferase 1 Epigenetic regulator 1.00 0.460 0.808
ELN P15502 elastin 2.1E-14 0.415 0.885
ESR1 P03372 estrogen receptor 1 Nuclear receptor 1.00 0.324 0.962
FMR1 Q06787 FMRP translational regulator 1 Nucleic acid binding 0.65 0.473 0.769
GCH1 P30793 GTP cyclohydrolase 1 Enzyme 0.90 0.511 0.846
GTF2I P78347 general transcription factor IIi 1.00 0.500 0.808
GTF2IRD1 Q9UHL9 GTF2I repeat domain containing 1 0.90 0.522 0.769
HCFC1 P51610 host cell factor C1 1.00 0.601 0.692
HDAC4 P56524 histone deacetylase 4 Epigenetic regulator 1.00 0.484 0.885
MED12 Q93074 mediator complex subunit 12 Transcription factor 1.00 0.476 0.769
NIPBL Q6KC79 NIPBL cohesin loading factor Nucleic acid binding 1.00 0.521 0.808
NKX2-1 P43699 NK2 homeobox 1 Transcription factor 0.36 0.457 0.808
PAH P00439 phenylalanine hydroxylase 6.4E-23 0.516 0.769
PCDH19 Q8TAB3 protocadherin 19 1.00 0.599 0.462
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
SEMA3E O15041 semaphorin 3E Signaling 8.7E-09 0.515 0.769
SMC1A Q14683 structural maintenance of chromosomes 1A 1.00 0.509 0.808
SMC3 Q9UQE7 structural maintenance of chromosomes 3 1.00 0.535 0.846
TBX1 O43435 T-box transcription factor 1 Transcription factor 0.84 0.433 0.808