Disease: Downturned corners of mouth
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
CCDC47 Q96A33 coiled-coil domain containing 47 6.1E-08 0.678 0.462
FBXO11 Q86XK2 F-box protein 11 Enzyme 1.00 0.604 0.692
GPC4 O75487 glypican 4 0.93 0.547 0.769
HDAC4 P56524 histone deacetylase 4 Epigenetic regulator 1.00 0.484 0.885
HDAC8 Q9BY41 histone deacetylase 8 Epigenetic regulator 0.98 0.511 0.885
HERC2 O95714 HECT and RLD domain containing E3 ubiquitin protein ligase 2 1.00 0.568 0.692
IPW imprinted in Prader-Willi syndrome 0.682 0.423
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
LMBR1 Q8WVP7 limb development membrane protein 1 Receptor 1.3E-08 0.619 0.308
MAGEL2 Q9UJ55 MAGE family member L2 Cell adhesion 0.98 0.560 0.654
MASP1 P48740 mannan binding lectin serine peptidase 1 Enzyme 1.2E-11 0.565 0.885
MBD5 Q9P267 methyl-CpG binding domain protein 5 1.00 0.581 0.808
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
MKRN3 Q13064 makorin ring finger protein 3 Enzyme 0.28 0.619 0.615
MKRN3-AS1 MKRN3 antisense RNA 1 0.682 0.423
NDN Q99608 necdin, MAGE family member Nucleic acid binding 0.67 0.578 0.654
NIPBL Q6KC79 NIPBL cohesin loading factor Nucleic acid binding 1.00 0.521 0.808
NPAP1 Q9NZP6 nuclear pore associated protein 1 Nucleic acid binding 0.670 0.500
PIGL Q9Y2B2 phosphatidylinositol glycan anchor biosynthesis class L 6.2E-09 0.581 0.731
PWAR1 Prader Willi/Angelman region RNA 1 0.490 0.769
PWRN1 Prader-Willi region non-protein coding RNA 1 0.670 0.500
RAD21 O60216 RAD21 cohesin complex component 1.00 0.528 0.846
ROR2 Q01974 receptor tyrosine kinase like orphan receptor 2 Kinase 1.2E-04 0.498 0.731
SETD5 Q9C0A6 SET domain containing 5 1.00 0.560 0.731
SMC1A Q14683 structural maintenance of chromosomes 1A 1.00 0.509 0.808