Disease: Congenital Epicanthus
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
RMRP RNA component of mitochondrial RNA processing endoribonuclease 0.519 0.731
CASK O14936 calcium/calmodulin dependent serine protein kinase Kinase 1.00 0.538 0.808
PMM2 O15305 phosphomannomutase 2 Enzyme 1.4E-17 0.535 0.769
RNF113A O15541 ring finger protein 113A Enzyme 0.89 0.597 0.769
ZNF292 O60281 zinc finger protein 292 Enzyme 1.00 0.695 0.423
EED O75530 embryonic ectoderm development 1.00 0.588 0.615
RECQL4 O94761 RecQ like helicase 4 Enzyme 3.3E-35 0.496 0.808
KCNH1 O95259 potassium voltage-gated channel subfamily H member 1 Ion channel 0.55 0.542 0.731
ADAMTS2 O95450 ADAM metallopeptidase with thrombospondin type 1 motif 2 Enzyme 0.97 0.579 0.808
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
COL1A1 P02452 collagen type I alpha 1 chain 1.00 0.430 0.808
TFAP2A P05549 transcription factor AP-2 alpha Transcription factor 0.99 0.488 0.769
COL5A2 P05997 collagen type V alpha 2 chain 1.00 0.568 0.731
COL11A1 P12107 collagen type XI alpha 1 chain 1.00 0.495 0.846
BMP2 P12643 bone morphogenetic protein 2 Signaling 0.99 0.432 0.846
SKI P12755 SKI proto-oncogene 1.00 0.503 0.808
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
ELN P15502 elastin 2.1E-14 0.415 0.885
TCF4 P15884 transcription factor 4 Transcription factor 1.00 0.464 0.846
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885
ERCC2 P18074 ERCC excision repair 2, TFIIH core complex helicase subunit Enzyme 7.1E-20 0.420 0.846
SON P18583 SON DNA binding protein 1.00 0.565 0.769
ERCC3 P19447 ERCC excision repair 3, TFIIH core complex helicase subunit Enzyme 3.4E-11 0.504 0.846
COL5A1 P20908 collagen type V alpha 1 chain 1.00 0.536 0.769