Disease: Brachycephaly
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
NANS Q9NR45 N-acetylneuraminate synthase Enzyme 0.545 0.692
NBAS A2RRP1 NBAS subunit of NRZ tethering complex 5.0E-43 0.566 0.692
NIPBL Q6KC79 NIPBL cohesin loading factor Nucleic acid binding 1.00 0.521 0.808
NACC1 Q96RE7 nucleus accumbens associated 1 1.00 0.610 0.577
OTUD6B Q8N6M0 OTU deubiquitinase 6B Enzyme 1.3E-07 0.659 0.538
PTCH1 Q13635 patched 1 1.00 0.398 0.885
PIGL Q9Y2B2 phosphatidylinositol glycan anchor biosynthesis class L 6.2E-09 0.581 0.731
PIGO Q8TEQ8 phosphatidylinositol glycan anchor biosynthesis class O 6.1E-11 0.636 0.615
PIGV Q9NUD9 phosphatidylinositol glycan anchor biosynthesis class V 1.5E-08 0.636 0.615
PIGW Q7Z7B1 phosphatidylinositol glycan anchor biosynthesis class W Enzyme 1.2E-05 0.633 0.654
PIGY Q3MUY2 phosphatidylinositol glycan anchor biosynthesis class Y 9.7E-02 0.628 0.577
POGZ Q7Z3K3 pogo transposable element derived with ZNF domain Transcription factor 1.00 0.599 0.577
PGAP2 Q9UHJ9 post-GPI attachment to proteins 2 Enzyme modulator 0.93 0.633 0.615
PGAP3 Q96FM1 post-GPI attachment to proteins phospholipase 3 1.9E-03 0.628 0.731
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923
RAB23 Q9ULC3 RAB23, member RAS oncogene family 5.6E-03 0.541 0.654
RAD21 O60216 RAD21 cohesin complex component 1.00 0.528 0.846
RAF1 P04049 Raf-1 proto-oncogene, serine/threonine kinase Kinase 0.85 0.418 0.885
RMRP RNA component of mitochondrial RNA processing endoribonuclease 0.519 0.731
SETBP1 Q9Y6X0 SET binding protein 1 1.00 0.503 0.808
SETD5 Q9C0A6 SET domain containing 5 1.00 0.560 0.731
NALCN Q8IZF0 sodium leak channel, non-selective Ion channel 8.5E-14 0.587 0.615
SOS1 Q07889 SOS Ras/Rac guanine nucleotide exchange factor 1 Enzyme modulator 1.00 0.485 0.808
SPATA5 Q8NB90 spermatogenesis associated 5 9.1E-20 0.670 0.654
SMC1A Q14683 structural maintenance of chromosomes 1A 1.00 0.509 0.808