Gene UniProt Gene Full Name Protein Class N. diseases g DSI g DPI g pLI Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 4534
Gene Symbol: MTM1
MTM1
Q13496 myotubularin 1 Enzyme 125 0.573 0.731 1.00 0.100 None 1.000 1 2 2016 2016
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1
Q8WZA1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 188 0.537 0.538 1.9E-20 0.100 None 1.000 1 1 2016 2016
Entrez Id: 84126
Gene Symbol: ATRIP
ATRIP
Q8WXE1 ATR interacting protein 54 0.666 0.692 2.0E-05 0.100 None 1.000 1 2 2016 2016
Entrez Id: 128989
Gene Symbol: TANGO2
TANGO2
Q6ICL3 transport and golgi organization 2 homolog 83 0.666 0.615 1.5E-04 0.100 None 1.000 1 1 2016 2016
Entrez Id: 4285
Gene Symbol: MIPEP
MIPEP
Q99797 mitochondrial intermediate peptidase Enzyme 69 0.666 0.615 1.6E-15 0.100 None 1.000 1 2 2016 2016
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B
Q8WYB5 lysine acetyltransferase 6B Enzyme 208 0.525 0.731 1.00 0.100 None 1.000 1 1 2016 2016
Entrez Id: 157680
Gene Symbol: VPS13B
VPS13B
Q7Z7G8 vacuolar protein sorting 13 homolog B 158 0.579 0.769 2.5E-45 0.100 None 1.000 1 1 2016 2016
Entrez Id: 259232
Gene Symbol: NALCN
NALCN
Q8IZF0 sodium leak channel, non-selective Ion channel 143 0.587 0.615 8.5E-14 0.100 None 1.000 1 1 2016 2016
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
P42345 mechanistic target of rapamycin kinase Kinase 960 0.343 0.885 1.00 0.100 None 1.000 1 2 2016 2016
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
O75398 DEAF1 transcription factor 156 0.575 0.615 3.4E-04 0.100 None 1.000 5 2 2014 2017
Entrez Id: 5455
Gene Symbol: POU3F3
POU3F3
P20264 POU class 3 homeobox 3 34 0.682 0.615 0.88 0.300 strong 1.000 1 0 2014 2014
Entrez Id: 81609
Gene Symbol: SNX27
SNX27
Q96L92 sorting nexin 27 24 0.722 0.346 1.00 0.300 None 1.000 1 0 2013 2013
Entrez Id: 18
Gene Symbol: ABAT
ABAT
P80404 4-aminobutyrate aminotransferase Enzyme 127 0.628 0.538 6.3E-03 0.100 None 1.000 1 4 2010 2010
Entrez Id: 25880
Gene Symbol: TMEM186
TMEM186
Q96B77 transmembrane protein 186 5 1.000 0.077 5.2E-05 0.100 None 1.000 1 1 2010 2010
Entrez Id: 6607
Gene Symbol: SMN2
SMN2
Q16637 survival of motor neuron 2, centromeric 299 0.459 0.769 0.10 0.100 None 1.000 2 2 2007 2013
Entrez Id: 6606
Gene Symbol: SMN1
SMN1
Q16637 survival of motor neuron 1, telomeric Epigenetic regulator 317 0.454 0.769 1.6E-02 0.100 None 1.000 2 2 2007 2013
Entrez Id: 5476
Gene Symbol: CTSA
CTSA
P10619 cathepsin A Enzyme 73 0.619 0.731 5.9E-09 0.100 None 1.000 3 2 1996 2014
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
O76082 solute carrier family 22 member 5 Transporter 103 0.608 0.731 5.3E-16 0.100 None 0 0
Entrez Id: 593
Gene Symbol: BCKDHA
BCKDHA
P12694 branched chain keto acid dehydrogenase E1 subunit alpha 45 0.695 0.423 9.8E-09 0.100 None 0 0
Entrez Id: 594
Gene Symbol: BCKDHB
BCKDHB
P21953 branched chain keto acid dehydrogenase E1 subunit beta Enzyme 50 0.682 0.500 4.3E-09 0.100 None 0 0
Entrez Id: 5824
Gene Symbol: PEX19
PEX19
P40855 peroxisomal biogenesis factor 19 Storage 134 0.585 0.731 3.2E-04 0.100 None 0 0
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
P36894 bone morphogenetic protein receptor type 1A Kinase 203 0.522 0.731 0.90 0.100 None 0 0
Entrez Id: 5977
Gene Symbol: DPF2
DPF2
Q92785 double PHD fingers 2 Enzyme 99 0.604 0.731 1.00 0.100 None 0 0
Entrez Id: 65993
Gene Symbol: MRPS34
MRPS34
P82930 mitochondrial ribosomal protein S34 29 0.722 0.346 2.6E-03 0.100 None 0 0
Entrez Id: 57724
Gene Symbol: EPG5
EPG5
Q9HCE0 ectopic P-granules autophagy protein 5 homolog 94 0.623 0.769 1.4E-13 0.100 None 0 0