Disease: Short foot
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
CHSY1 Q86X52 chondroitin sulfate synthase 1 Enzyme 0.71 0.612 0.615
FBXO11 Q86XK2 F-box protein 11 Enzyme 1.00 0.604 0.692
FGD1 P98174 FYVE, RhoGEF and PH domain containing 1 Enzyme modulator 1.00 0.573 0.731
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885
GPC4 O75487 glypican 4 0.93 0.547 0.769
HERC2 O95714 HECT and RLD domain containing E3 ubiquitin protein ligase 2 1.00 0.568 0.692
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769
IGF1R P08069 insulin like growth factor 1 receptor Kinase 0.97 0.399 0.885
IPW imprinted in Prader-Willi syndrome 0.682 0.423
KCNJ2 P63252 potassium inwardly rectifying channel subfamily J member 2 Ion channel 0.31 0.572 0.731
KDM5C P41229 lysine demethylase 5C 1.00 0.581 0.538
MAGEL2 Q9UJ55 MAGE family member L2 Cell adhesion 0.98 0.560 0.654
MAP3K7 O43318 mitogen-activated protein kinase kinase kinase 7 Kinase 1.00 0.477 0.808
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
NOG Q13253 noggin 0.89 0.518 0.731
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
ROR2 Q01974 receptor tyrosine kinase like orphan receptor 2 Kinase 1.2E-04 0.498 0.731
SMC1A Q14683 structural maintenance of chromosomes 1A 1.00 0.509 0.808
SNORD115-1 small nucleolar RNA, C/D box 115-1 0.682 0.423