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
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
PTCH1 Q13635 patched 1 1.00 0.398 0.885
SOS1 Q07889 SOS Ras/Rac guanine nucleotide exchange factor 1 Enzyme modulator 1.00 0.485 0.808
TCF20 Q9UGU0 transcription factor 20 Transcription factor 1.00 0.644 0.423
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
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769
RAI1 Q7Z5J4 retinoic acid induced 1 Transcription factor 1.00 0.545 0.731
NIPBL Q6KC79 NIPBL cohesin loading factor Nucleic acid binding 1.00 0.521 0.808
SETBP1 Q9Y6X0 SET binding protein 1 1.00 0.503 0.808
WAC Q9BTA9 WW domain containing adaptor with coiled-coil 1.00 0.686 0.615
MBD5 Q9P267 methyl-CpG binding domain protein 5 1.00 0.581 0.808
ZSWIM6 Q9HCJ5 zinc finger SWIM-type containing 6 1.00 0.626 0.577
EHMT1 Q9H9B1 euchromatic histone lysine methyltransferase 1 Epigenetic regulator 1.00 0.460 0.808
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923
IQSEC2 Q5JU85 IQ motif and Sec7 domain ArfGEF 2 1.00 0.573 0.577
SETD5 Q9C0A6 SET domain containing 5 1.00 0.560 0.731
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
TBL1XR1 Q9BZK7 TBL1X receptor 1 1.00 0.534 0.808
SUFU Q9UMX1 SUFU negative regulator of hedgehog signaling 1.00 0.493 0.769
PRKAR1A P10644 protein kinase cAMP-dependent type I regulatory subunit alpha 1.00 0.401 0.846
FGFR1 P11362 fibroblast growth factor receptor 1 Kinase 1.00 0.362 0.885