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: 79684
Gene Symbol: MSANTD2
MSANTD2
Q6P1R3 Myb/SANT DNA binding domain containing 2 2 1.000 0.038 0.90 0.010 None 1.000 1 0 2017 2017
Entrez Id: 56257
Gene Symbol: MEPCE
MEPCE
Q7L2J0 methylphosphate capping enzyme 3 1.000 1.00 0.010 None 1.000 1 0 2019 2019
Entrez Id: 79843
Gene Symbol: FAM124B
FAM124B
Q9H5Z6 family with sequence similarity 124 member B 3 0.931 0.154 1.1E-05 0.010 None 1.000 1 0 2012 2012
Entrez Id: 221154
Gene Symbol: MICU2
MICU2
Q8IYU8 mitochondrial calcium uptake 2 Calcium-binding protein 4 0.931 0.077 9.7E-21 0.010 None 1.000 1 0 2017 2017
Entrez Id: 347730
Gene Symbol: LRRTM1
LRRTM1
Q86UE6 leucine rich repeat transmembrane neuronal 1 4 0.931 0.038 0.59 0.010 None 1.000 1 0 2007 2007
Entrez Id: 79712
Gene Symbol: GTDC1
GTDC1
Q4AE62 glycosyltransferase like domain containing 1 4 0.890 0.115 1.0E-12 0.010 None 1.000 1 0 2017 2017
Entrez Id: 83473
Gene Symbol: KATNAL2
KATNAL2
Q8IYT4 katanin catalytic subunit A1 like 2 Cellular structure 7 0.890 0.038 1.2E-06 0.300 None 1.000 1 0 2017 2017
Entrez Id: 10116
Gene Symbol: FEM1B
FEM1B
Q9UK73 fem-1 homolog B 8 0.821 0.385 0.35 0.010 None 1.000 1 0 2019 2019
Entrez Id: 22847
Gene Symbol: ZNF507
ZNF507
Q8TCN5 zinc finger protein 507 Transcription factor 8 1.000 5.7E-02 0.010 None 1.000 1 0 2012 2012
Entrez Id: 26019
Gene Symbol: UPF2
UPF2
Q9HAU5 UPF2 regulator of nonsense mediated mRNA decay Enzyme 8 1.000 0.038 1.00 0.010 None 1.000 1 0 2019 2019
Entrez Id: 57578
Gene Symbol: UNC79
UNC79
Q9P2D8 unc-79 homolog, NALCN channel complex subunit 8 1.000 0.038 1.00 0.010 None 1.000 1 0 2017 2017
Entrez Id: 83464
Gene Symbol: APH1B
APH1B
Q8WW43 aph-1 homolog B, gamma-secretase subunit Enzyme modulator 9 0.821 0.231 2.8E-11 0.010 None 1.000 1 0 2005 2005
Entrez Id: 26115
Gene Symbol: TANC2
TANC2
Q9HCD6 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 11 0.861 0.154 1.00 0.510 moderate 1.000 3 0 2017 2019
Entrez Id: 84698
Gene Symbol: CAPS2
CAPS2
Q9BXY5 calcyphosine 2 11 0.839 0.077 6.1E-24 0.010 None 1.000 1 0 2010 2010
Entrez Id: 253980
Gene Symbol: KCTD13
KCTD13
Q8WZ19 potassium channel tetramerization domain containing 13 12 0.821 0.154 9.2E-04 0.010 None 1.000 1 0 2020 2020
Entrez Id: 100873065
Gene Symbol: PTCHD1-AS
PTCHD1-AS
PTCHD1 antisense RNA (head to head) 13 0.839 0.308 0.010 None 1.000 1 0 2020 2020
Entrez Id: 50715
Gene Symbol: EJM2
EJM2
epilepsy, juvenile myoclonic 2 14 0.751 0.192 0.010 None 1.000 1 0 2013 2013
Entrez Id: 55607
Gene Symbol: PPP1R9A
PPP1R9A
Q9ULJ8 protein phosphatase 1 regulatory subunit 9A 14 0.769 0.269 1.1E-05 0.010 None 1.000 1 0 2016 2016
Entrez Id: 8940
Gene Symbol: TOP3B
TOP3B
O95985 DNA topoisomerase III beta Enzyme 14 0.769 0.269 2.1E-04 0.010 None 1.000 1 0 2018 2018
Entrez Id: 118788
Gene Symbol: PIK3AP1
PIK3AP1
Q6ZUJ8 phosphoinositide-3-kinase adaptor protein 1 15 0.780 0.346 1.00 0.010 None 1.000 1 0 2019 2019
Entrez Id: 192683
Gene Symbol: SCAMP5
SCAMP5
Q8TAC9 secretory carrier membrane protein 5 Enzyme 15 0.839 0.192 0.65 0.010 None 1.000 1 0 2020 2020
Entrez Id: 392636
Gene Symbol: AGMO
AGMO
Q6ZNB7 alkylglycerol monooxygenase 15 0.780 0.423 6.8E-26 0.010 None 1.000 1 0 2019 2019
Entrez Id: 318
Gene Symbol: NUDT2
NUDT2
P50583 nudix hydrolase 2 Enzyme 16 0.780 0.154 5.7E-03 0.010 None 1.000 1 0 2018 2018
Entrez Id: 9578
Gene Symbol: CDC42BPB
CDC42BPB
Q9Y5S2 CDC42 binding protein kinase beta Kinase 16 0.760 0.385 1.00 0.300 None 1.000 1 0 2017 2017
Entrez Id: 100038247
Gene Symbol: PTLS
PTLS
Potocki-Lupski syndrome 17 0.780 0.308 0.010 None 1.000 1 0 2019 2019