Source: ALL
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: 2200
Gene Symbol: FBN1
FBN1 		P35555 fibrillin 1 Calcium-binding protein 552 0.417 0.846 1.00 0.100 None 0 12
Entrez Id: 57190
Gene Symbol: SELENON
SELENON 		Q9NZV5 selenoprotein N 147 0.575 0.692 9.8E-10 0.100 None 0 3
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A 		P35499 sodium voltage-gated channel alpha subunit 4 Ion channel 202 0.554 0.731 1.3E-02 0.100 None 1.000 2 2 2004 2008
Entrez Id: 9772
Gene Symbol: TMEM94
TMEM94 		Q12767 transmembrane protein 94 103 0.628 0.654 2.8E-14 0.100 None 0 2
Entrez Id: 23287
Gene Symbol: AGTPBP1
AGTPBP1 		Q9UPW5 ATP/GTP binding protein 1 Enzyme 63 0.650 0.538 0.42 0.100 None 0 2
Entrez Id: 8701
Gene Symbol: DNAH11
DNAH11 		Q96DT5 dynein axonemal heavy chain 11 Enzyme 110 0.587 0.692 2.5E-58 0.100 None 0 2
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1 		Q8IXJ9 ASXL transcriptional regulator 1 296 0.482 0.808 1.3E-14 0.100 None 0 2
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A 		Q03164 lysine methyltransferase 2A 535 0.410 0.885 1.00 0.100 None 0 2
Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7 		Q96MP8 potassium channel tetramerization domain containing 7 Enzyme modulator 68 0.650 0.423 6.3E-04 0.100 None 0 2
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B 		Q8NFD5 AT-rich interaction domain 1B 270 0.503 0.846 1.00 0.100 None 1.000 2 1 2012 2015
Entrez Id: 2186
Gene Symbol: BPTF
BPTF 		Q12830 bromodomain PHD finger transcription factor 171 0.560 0.769 1.00 0.100 None 1.000 1 1 2017 2017
Entrez Id: 84294
Gene Symbol: UTP23
UTP23 		Q9BRU9 UTP23 small subunit processome component 29 0.711 0.385 8.6E-02 0.100 None 1.000 1 1 2019 2019
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1 		P11362 fibroblast growth factor receptor 1 Kinase 816 0.362 0.885 1.00 0.110 None 1.000 1 1 2015 2015
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B 		O94805 actin like 6B Cellular structure 100 0.656 0.462 2.8E-04 0.100 None 1.000 1 1 2019 2019
Entrez Id: 5885
Gene Symbol: RAD21
RAD21 		O60216 RAD21 cohesin complex component 192 0.528 0.846 1.00 0.100 None 1.000 1 1 2019 2019
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2 		P78381 solute carrier family 35 member A2 Transporter 197 0.525 0.808 0.72 0.100 None 1.000 1 1 2019 2019
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		P49768 presenilin 1 Enzyme 369 0.469 0.846 0.97 0.100 None 1.000 1 1 2014 2014
Entrez Id: 166378
Gene Symbol: SPATA5
SPATA5 		Q8NB90 spermatogenesis associated 5 75 0.670 0.654 9.1E-20 0.100 None 0 1
Entrez Id: 2201
Gene Symbol: FBN2
FBN2 		P35556 fibrillin 2 Calcium-binding protein 211 0.505 0.808 1.00 0.100 None 0 1
Entrez Id: 124454
Gene Symbol: EARS2
EARS2 		Q5JPH6 glutamyl-tRNA synthetase 2, mitochondrial Enzyme 47 0.666 0.538 1.1E-08 0.100 None 0 1
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		P21802 fibroblast growth factor receptor 2 Kinase 731 0.380 0.808 1.00 0.100 None 0 1
Entrez Id: 55252
Gene Symbol: ASXL2
ASXL2 		Q76L83 ASXL transcriptional regulator 2 89 0.617 0.692 1.00 0.100 None 0 1
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		P35222 catenin beta 1 1368 0.303 0.885 1.00 0.100 None 0 1
Entrez Id: 23126
Gene Symbol: POGZ
POGZ 		Q7Z3K3 pogo transposable element derived with ZNF domain Transcription factor 117 0.599 0.577 1.00 0.100 None 0 1
Entrez Id: 55975
Gene Symbol: KLHL7
KLHL7 		Q8IXQ5 kelch like family member 7 135 0.581 0.731 4.6E-05 0.100 None 0 1