Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
ASXL3 Q9C0F0 ASXL transcriptional regulator 3 1.00 0.590 0.577 77 22
PEX6 Q13608 peroxisomal biogenesis factor 6 6.3E-06 0.547 0.731 69 51
CNTNAP1 P78357 contactin associated protein 1 3.4E-05 0.554 0.577 65 13
GJB2 P29033 gap junction protein beta 2 Cell-cell junction 6.6E-16 0.441 0.846 62 116
PEX1 O43933 peroxisomal biogenesis factor 1 1.1E-14 0.538 0.769 46 99
KMT2D O14686 lysine methyltransferase 2D 1.00 0.465 0.808 26 250
SMC1A Q14683 structural maintenance of chromosomes 1A 1.00 0.509 0.808 24 51
SLC25A42 Q86VD7 solute carrier family 25 member 42 Transporter 0.49 0.760 0.269 21 2
MYO7A Q13402 myosin VIIA Cellular structure 1.6E-38 0.585 0.423 17 172
ALMS1 Q8TCU4 ALMS1 centrosome and basal body associated protein 4.5E-60 0.559 0.808 15 180
SLC25A4 P12235 solute carrier family 25 member 4 Transporter 0.45 0.568 0.692 13 11
TUB P50607 TUB bipartite transcription factor 3.1E-03 0.659 0.385 8 1
GATA3 P23771 GATA binding protein 3 0.90 0.415 0.846 7 9
MYO6 Q9UM54 myosin VI Cellular structure 2.4E-05 0.631 0.731 4 11
SMPX Q9UHP9 small muscle protein X-linked 0.62 0.682 0.500 2 7
SEMA3D O95025 semaphorin 3D Signaling 4.0E-08 0.678 0.423 2 2
DPT Q07507 dermatopontin Extracellular structure 4.3E-06 0.641 0.654 1 1