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: 80816
Gene Symbol: ASXL3
ASXL3 		Q9C0F0 ASXL transcriptional regulator 3 77 0.590 0.577 1.00 0.100 None 1.000 1 1 2016 2016
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 2 2017 2017
Entrez Id: 4613
Gene Symbol: MYCN
MYCN 		P04198 MYCN proto-oncogene, bHLH transcription factor Transcription factor 18 0.454 0.808 0.89 0.100 None 1.000 1 1 2005 2005
Entrez Id: 51053
Gene Symbol: GMNN
GMNN 		O75496 geminin DNA replication inhibitor 39 0.554 0.808 0.11 0.100 None 1.000 1 1 2015 2015
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1 		TTN antisense RNA 1 78 0.599 0.577 0.100 None 0 1
Entrez Id: 79228
Gene Symbol: THOC6
THOC6 		Q86W42 THO complex 6 14 0.705 0.577 4.8E-04 0.100 None 0 2
Entrez Id: 7273
Gene Symbol: TTN
TTN 		Q8WZ42 titin Kinase 78 0.470 0.885 2.6E-96 0.100 None 0 1
Entrez Id: 6654
Gene Symbol: SOS1
SOS1 		Q07889 SOS Ras/Rac guanine nucleotide exchange factor 1 Enzyme modulator 62 0.485 0.808 1.00 0.100 None 0 1
Entrez Id: 5888
Gene Symbol: RAD51
RAD51 		Q06609 RAD51 recombinase 26 0.447 0.846 2.7E-02 0.100 None 0 1
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		Q9P2D1 chromodomain helicase DNA binding protein 7 77 0.441 0.846 1.00 0.100 None 0 1
Entrez Id: 5189
Gene Symbol: PEX1
PEX1 		O43933 peroxisomal biogenesis factor 1 46 0.538 0.769 1.1E-14 0.100 None 0 1
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		P29033 gap junction protein beta 2 Cell-cell junction 62 0.441 0.846 6.6E-16 0.100 None 0 1
Entrez Id: 23389
Gene Symbol: MED13L
MED13L 		Q71F56 mediator complex subunit 13L 30 0.617 0.538 1.00 0.100 None 0 1
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		P02458 collagen type II alpha 1 chain 78 0.444 0.846 1.00 0.100 None 0 1
Entrez Id: 8239
Gene Symbol: USP9X
USP9X 		Q93008 ubiquitin specific peptidase 9 X-linked 12 0.502 0.846 1.00 0.100 None 0 1