Source: CLINVAR ×
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: 57492
Gene Symbol: ARID1B
ARID1B 		Q8NFD5 AT-rich interaction domain 1B 93 0.503 0.846 1.00 0.100 None 1.000 2 1 2012 2015
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A 		P35499 sodium voltage-gated channel alpha subunit 4 Ion channel 44 0.554 0.731 1.3E-02 0.100 None 1.000 2 2 2004 2008
Entrez Id: 5885
Gene Symbol: RAD21
RAD21 		O60216 RAD21 cohesin complex component 17 0.528 0.846 1.00 0.100 None 1.000 1 1 2019 2019
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B 		O94805 actin like 6B Cellular structure 37 0.656 0.462 2.8E-04 0.100 None 1.000 1 1 2019 2019
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2 		P78381 solute carrier family 35 member A2 Transporter 48 0.525 0.808 0.72 0.100 None 1.000 1 1 2019 2019
Entrez Id: 84294
Gene Symbol: UTP23
UTP23 		Q9BRU9 UTP23 small subunit processome component 17 0.711 0.385 8.6E-02 0.100 None 1.000 1 1 2019 2019
Entrez Id: 2186
Gene Symbol: BPTF
BPTF 		Q12830 bromodomain PHD finger transcription factor 73 0.560 0.769 1.00 0.100 None 1.000 1 1 2017 2017
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		P49768 presenilin 1 Enzyme 41 0.469 0.846 0.97 0.100 None 1.000 1 1 2014 2014
Entrez Id: 7399
Gene Symbol: USH2A
USH2A 		O75445 usherin Enzyme modulator 41 0.579 0.692 1.6E-94 0.100 None 0 1
Entrez Id: 5813
Gene Symbol: PURA
PURA 		Q00577 purine rich element binding protein A Nucleic acid binding 47 0.644 0.500 0.94 0.100 None 0 1
Entrez Id: 58538
Gene Symbol: MPP4
MPP4 		Q96JB8 membrane palmitoylated protein 4 Enzyme 7 0.792 0.308 3.4E-18 0.100 None 0 1
Entrez Id: 51633
Gene Symbol: OTUD6B
OTUD6B 		Q8N6M0 OTU deubiquitinase 6B Enzyme 25 0.659 0.538 1.3E-07 0.100 None 0 1
Entrez Id: 9757
Gene Symbol: KMT2B
KMT2B 		Q9UMN6 lysine methyltransferase 2B 70 0.529 0.808 1.00 0.100 None 0 1
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1 		Q12824 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 Nucleic acid binding 43 0.434 0.846 1.00 0.100 None 0 1
Entrez Id: 9427
Gene Symbol: ECEL1
ECEL1 		O95672 endothelin converting enzyme like 1 Enzyme 15 0.638 0.308 4.8E-13 0.100 None 0 1
Entrez Id: 93627
Gene Symbol: TBCK
TBCK 		Q8TEA7 TBC1 domain containing kinase Kinase 47 0.650 0.654 2.1E-15 0.100 None 0 1
Entrez Id: 6872
Gene Symbol: TAF1
TAF1 		P21675 TATA-box binding protein associated factor 1 Kinase 18 0.581 0.808 1.00 0.100 None 0 1
Entrez Id: 7020
Gene Symbol: TFAP2A
TFAP2A 		P05549 transcription factor AP-2 alpha Transcription factor 37 0.488 0.769 0.99 0.100 None 0 1
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1 		P36897 transforming growth factor beta receptor 1 Kinase 20 0.451 0.885 0.85 0.100 None 0 1
Entrez Id: 8701
Gene Symbol: DNAH11
DNAH11 		Q96DT5 dynein axonemal heavy chain 11 Enzyme 39 0.587 0.692 2.5E-58 0.100 None 0 2
Entrez Id: 745
Gene Symbol: MYRF
MYRF 		Q9Y2G1 myelin regulatory factor 21 0.584 0.731 1.00 0.100 None 0 1
Entrez Id: 746
Gene Symbol: TMEM258
TMEM258 		P61165 transmembrane protein 258 17 0.644 0.654 1.9E-03 0.100 None 0 1
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C 		Q13936 calcium voltage-gated channel subunit alpha1 C Ion channel 37 0.510 0.846 1.00 0.100 None 0 1
Entrez Id: 8289
Gene Symbol: ARID1A
ARID1A 		O14497 AT-rich interaction domain 1A 47 0.455 0.846 1.00 0.100 None 0 1
Entrez Id: 9772
Gene Symbol: TMEM94
TMEM94 		Q12767 transmembrane protein 94 73 0.628 0.654 2.8E-14 0.100 None 0 2