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: 6899
Gene Symbol: TBX1
TBX1
O43435 T-box transcription factor 1 Transcription factor 417 0.433 0.808 0.84 0.010 None 1.000 1 0 2012 2012
Entrez Id: 27286
Gene Symbol: SRPX2
SRPX2
O60687 sushi repeat containing protein X-linked 2 80 0.621 0.462 4.8E-02 0.010 None 1.000 1 1 2019 2019
Entrez Id: 139189
Gene Symbol: DGKK
DGKK
Q5KSL6 diacylglycerol kinase kappa Enzyme 11 0.780 0.385 0.010 None 1.000 1 0 2016 2016
Entrez Id: 23191
Gene Symbol: CYFIP1
CYFIP1
Q7L576 cytoplasmic FMR1 interacting protein 1 Enzyme modulator 40 0.674 0.538 0.97 0.010 None 1.000 1 0 2017 2017
Entrez Id: 3576
Gene Symbol: CXCL8
CXCL8
P10145 C-X-C motif chemokine ligand 8 Signaling 1254 0.310 0.962 2.7E-04 0.010 None 1.000 1 0 2018 2018
Entrez Id: 9289
Gene Symbol: ADGRG1
ADGRG1
Q9Y653 adhesion G protein-coupled receptor G1 G-protein coupled receptor 106 0.590 0.654 5.3E-10 0.010 None < 0.001 1 0 2013 2013
Entrez Id: 23126
Gene Symbol: POGZ
POGZ
Q7Z3K3 pogo transposable element derived with ZNF domain Transcription factor 117 0.599 0.577 1.00 0.010 None 1.000 1 0 2016 2016
Entrez Id: 847
Gene Symbol: CAT
CAT
P04040 catalase Enzyme 794 0.359 0.962 1.6E-10 0.010 None 1.000 1 0 2007 2007
Entrez Id: 84894
Gene Symbol: LINGO1
LINGO1
Q96FE5 leucine rich repeat and Ig domain containing 1 Receptor 44 0.682 0.385 0.99 0.010 None 1.000 1 0 2018 2018
Entrez Id: 8231
Gene Symbol: CND
CND
Corneal dermoids 7 0.821 0.308 0.010 None 1.000 1 0 2019 2019
Entrez Id: 114791
Gene Symbol: TUBGCP5
TUBGCP5
Q96RT8 tubulin gamma complex associated protein 5 Cellular structure 13 0.769 0.346 1.2E-12 0.010 None 1.000 1 0 2017 2017
Entrez Id: 5662
Gene Symbol: PSD
PSD
A5PKW4 pleckstrin and Sec7 domain containing 59 0.626 0.654 0.90 0.010 None 1.000 1 0 2019 2019
Entrez Id: 3954
Gene Symbol: LETM1
LETM1
O95202 leucine zipper and EF-hand containing transmembrane protein 1 Transporter 188 0.545 0.692 1.2E-06 0.010 None 1.000 1 0 2014 2014
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
Q9C0F0 ASXL transcriptional regulator 3 149 0.590 0.577 1.00 0.010 None 1.000 1 0 2017 2017
Entrez Id: 60491
Gene Symbol: NIF3L1
NIF3L1
Q9GZT8 NGG1 interacting factor 3 like 1 37 0.674 0.462 9.7E-09 0.010 None 1.000 1 0 1998 1998
Entrez Id: 4434
Gene Symbol: MSD
MSD
microcephaly with spastic diplegia (Paine syndrome) 35 0.674 0.654 0.010 None 1.000 1 0 2019 2019
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
P60201 proteolipid protein 1 Cellular structure 160 0.543 0.769 0.93 0.010 None < 0.001 1 0 2016 2016
Entrez Id: 1714
Gene Symbol: DGCR
DGCR
DiGeorge syndrome chromosome region 38 0.678 0.538 0.010 None 1.000 1 0 2012 2012
Entrez Id: 10743
Gene Symbol: RAI1
RAI1
Q7Z5J4 retinoic acid induced 1 Transcription factor 205 0.545 0.731 1.00 0.010 None 1.000 1 0 2006 2006
Entrez Id: 5034
Gene Symbol: P4HB
P4HB
P07237 prolyl 4-hydroxylase subunit beta 222 0.488 0.808 1.00 0.010 None 1.000 1 0 2019 2019
Entrez Id: 2643
Gene Symbol: GCH1
GCH1
P30793 GTP cyclohydrolase 1 Enzyme 254 0.511 0.846 0.90 0.010 None 1.000 1 0 1998 1998
Entrez Id: 8140
Gene Symbol: SLC7A5
SLC7A5
Q01650 solute carrier family 7 member 5 Transporter 173 0.513 0.808 0.24 0.010 None 1.000 1 0 2016 2016
Entrez Id: 57688
Gene Symbol: ZSWIM6
ZSWIM6
Q9HCJ5 zinc finger SWIM-type containing 6 95 0.626 0.577 1.00 0.010 None 1.000 1 0 2017 2017
Entrez Id: 27086
Gene Symbol: FOXP1
FOXP1
Q9H334 forkhead box P1 317 0.460 0.808 1.00 0.010 None 1.000 1 0 2018 2018
Entrez Id: 100528016
Gene Symbol: TMX2-CTNND1
TMX2-CTNND1
TMX2-CTNND1 readthrough (NMD candidate) 138 0.538 0.769 0.020 None 1.000 2 0 2019 2019