Disease: Low-set, posteriorly rotated ears
Source: INFERRED ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ACTG2 P63267 actin gamma 2, smooth muscle Cellular structure 7.1E-02 0.505 0.808
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
BAZ1B Q9UIG0 bromodomain adjacent to zinc finger domain 1B 1.00 0.530 0.731
CLIP2 Q9UDT6 CAP-Gly domain containing linker protein 2 Cellular structure 1.00 0.529 0.808
COL1A1 P02452 collagen type I alpha 1 chain 1.00 0.430 0.808
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
EED O75530 embryonic ectoderm development 1.00 0.588 0.615
ELN P15502 elastin 2.1E-14 0.415 0.885
ERCC1 P07992 ERCC excision repair 1, endonuclease non-catalytic subunit Enzyme 1.6E-07 0.445 0.846
EZH2 Q15910 enhancer of zeste 2 polycomb repressive complex 2 subunit Epigenetic regulator 1.00 0.376 0.885
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
GABRD O14764 gamma-aminobutyric acid type A receptor subunit delta Ion channel 0.99 0.558 0.692
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
HDAC8 Q9BY41 histone deacetylase 8 Epigenetic regulator 0.98 0.511 0.885
HSPG2 P98160 heparan sulfate proteoglycan 2 Enzyme modulator 1.0E-19 0.438 0.885
KCNAB2 Q13303 potassium voltage-gated channel subfamily A regulatory beta subunit 2 Ion channel 0.80 0.593 0.692
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
LIMK1 P53667 LIM domain kinase 1 Kinase 1.00 0.488 0.731
MYH3 P11055 myosin heavy chain 3 6.7E-21 0.563 0.654
NIPBL Q6KC79 NIPBL cohesin loading factor Nucleic acid binding 1.00 0.521 0.808
NSD1 Q96L73 nuclear receptor binding SET domain protein 1 Epigenetic regulator 1.00 0.505 0.769
OCRL Q01968 OCRL inositol polyphosphate-5-phosphatase Enzyme 1.00 0.553 0.731
PRDM16 Q9HAZ2 PR/SET domain 16 1.00 0.522 0.808
RAB18 Q9NP72 RAB18, member RAS oncogene family 0.91 0.582 0.692