Disease: Brachycephaly
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
COL11A1 P12107 collagen type XI alpha 1 chain 1.00 0.495 0.846
FLII Q13045 FLII actin remodeling protein 5.5E-12 0.520 0.808
GATA1 P15976 GATA binding protein 1 0.95 0.483 0.808
HSPA9 P38646 heat shock protein family A (Hsp70) member 9 0.97 0.502 0.885
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
PDE4D Q08499 phosphodiesterase 4D 1.00 0.519 0.846
PRKAR1A P10644 protein kinase cAMP-dependent type I regulatory subunit alpha 1.00 0.401 0.846
PTCH1 Q13635 patched 1 1.00 0.398 0.885
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923
RAD21 O60216 RAD21 cohesin complex component 1.00 0.528 0.846
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
DEAF1 O75398 DEAF1 transcription factor 3.4E-04 0.575 0.615
RAB3GAP1 Q15042 RAB3 GTPase activating protein catalytic subunit 1 1.5E-07 0.566 0.692
RAB18 Q9NP72 RAB18, member RAS oncogene family 0.91 0.582 0.692
IQSEC2 Q5JU85 IQ motif and Sec7 domain ArfGEF 2 1.00 0.573 0.577
SPECC1L Q69YQ0 sperm antigen with calponin homology and coiled-coil domains 1 like 0.86 0.593 0.654
SETBP1 Q9Y6X0 SET binding protein 1 1.00 0.503 0.808
DSE Q9UL01 dermatan sulfate epimerase 0.63 0.700 0.462
WAC Q9BTA9 WW domain containing adaptor with coiled-coil 1.00 0.686 0.615
PIGT Q969N2 phosphatidylinositol glycan anchor biosynthesis class T 7.3E-10 0.633 0.615
SUFU Q9UMX1 SUFU negative regulator of hedgehog signaling 1.00 0.493 0.769
TMCO1 Q9UM00 transmembrane and coiled-coil domains 1 9.4E-10 0.588 0.654
SETD5 Q9C0A6 SET domain containing 5 1.00 0.560 0.731