Disease: Congenital Abnormality
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
HTC2 hypertrichosis 2 (generalized, congenital) 0.392 0.808
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing) 0.556 0.808
POTEF A5A3E0 POTE ankyrin domain family member F 5.5E-06 0.481 0.885
SMCHD1 A6NHR9 structural maintenance of chromosomes flexible hinge domain containing 1 1.00 0.631 0.615
KPNA7 A9QM74 karyopherin subunit alpha 7 3.4E-15 0.805 0.308
PIK3CD O00329 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta Kinase 1.00 0.319 0.885
SLC33A1 O00400 solute carrier family 33 member 1 Transporter 9.9E-05 0.529 0.769
MEIS1 O00470 Meis homeobox 1 Enzyme 1.00 0.579 0.615
KMT2D O14686 lysine methyltransferase 2D 1.00 0.465 0.808
TBX3 O15119 T-box transcription factor 3 Transcription factor 0.99 0.525 0.769
PMM2 O15305 phosphomannomutase 2 Enzyme 1.4E-17 0.535 0.769
MID1 O15344 midline 1 0.98 0.621 0.654
FOXP2 O15409 forkhead box P2 1.00 0.545 0.808
FGF10 O15520 fibroblast growth factor 10 Signaling 0.94 0.530 0.692
HNRNPR O43390 heterogeneous nuclear ribonucleoprotein R Nucleic acid binding 1.00 0.722 0.308
ZEB2 O60315 zinc finger E-box binding homeobox 2 Transcription factor 1.00 0.471 0.808
PQBP1 O60828 polyglutamine binding protein 1 Transcription factor 0.79 0.570 0.654
CNOT3 O75175 CCR4-NOT transcription complex subunit 3 Transcription factor 1.00 0.686 0.615
OFD1 O75665 OFD1 centriole and centriolar satellite protein 0.96 0.510 0.808
GJB6 O95452 gap junction protein beta 6 Cell-cell junction 1.7E-07 0.528 0.808
EGFR P00533 epidermal growth factor receptor Kinase 0.37 0.295 0.885
NRAS P01111 NRAS proto-oncogene, GTPase Enzyme modulator 0.49 0.390 0.808
KRAS P01116 KRAS proto-oncogene, GTPase Enzyme modulator 7.9E-04 0.320 0.923
AVP P01185 arginine vasopressin Signaling 7.4E-02 0.437 0.846
IGF2 P01344 insulin like growth factor 2 4.4E-02 0.390 0.885