Disease: Downturned corners of mouth
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
UBE2A P49459 ubiquitin conjugating enzyme E2 A 0.81 0.623 0.692
SON P18583 SON DNA binding protein 1.00 0.565 0.769
SNRPN P63162 Q9Y675 small nuclear ribonucleoprotein polypeptide N Nucleic acid binding 4.3E-02 0.538 0.731
SNORD116-1 small nucleolar RNA, C/D box 116-1 0.682 0.423
SNORD115-1 small nucleolar RNA, C/D box 115-1 0.682 0.423
SMC3 Q9UQE7 structural maintenance of chromosomes 3 1.00 0.535 0.846
SMC1A Q14683 structural maintenance of chromosomes 1A 1.00 0.509 0.808
SETD5 Q9C0A6 SET domain containing 5 1.00 0.560 0.731
ROR2 Q01974 receptor tyrosine kinase like orphan receptor 2 Kinase 1.2E-04 0.498 0.731
RAD21 O60216 RAD21 cohesin complex component 1.00 0.528 0.846
PWRN1 Prader-Willi region non-protein coding RNA 1 0.670 0.500
PWAR1 Prader Willi/Angelman region RNA 1 0.490 0.769
PIGL Q9Y2B2 phosphatidylinositol glycan anchor biosynthesis class L 6.2E-09 0.581 0.731
NPAP1 Q9NZP6 nuclear pore associated protein 1 Nucleic acid binding 0.670 0.500
NIPBL Q6KC79 NIPBL cohesin loading factor Nucleic acid binding 1.00 0.521 0.808
NDN Q99608 necdin, MAGE family member Nucleic acid binding 0.67 0.578 0.654
MKRN3-AS1 MKRN3 antisense RNA 1 0.682 0.423
MKRN3 Q13064 makorin ring finger protein 3 Enzyme 0.28 0.619 0.615
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
MBD5 Q9P267 methyl-CpG binding domain protein 5 1.00 0.581 0.808
MASP1 P48740 mannan binding lectin serine peptidase 1 Enzyme 1.2E-11 0.565 0.885
MAGEL2 Q9UJ55 MAGE family member L2 Cell adhesion 0.98 0.560 0.654
LMBR1 Q8WVP7 limb development membrane protein 1 Receptor 1.3E-08 0.619 0.308
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
IPW imprinted in Prader-Willi syndrome 0.682 0.423