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: 57178
Gene Symbol: ZMIZ1
ZMIZ1 		Q9ULJ6 zinc finger MIZ-type containing 1 7 0.588 0.615 1.00 0.400 None 1.000 1 1 2015 2019
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 1.000 3 1 2007 2007
Entrez Id: 26235
Gene Symbol: FBXL4
FBXL4 		Q9UKA2 F-box and leucine rich repeat protein 4 12 0.695 0.423 1.1E-08 0.100 None 1.000 1 1 2016 2016
Entrez Id: 7994
Gene Symbol: KAT6A
KAT6A 		Q92794 lysine acetyltransferase 6A Enzyme 18 0.560 0.769 1.00 0.100 None 1.000 1 1 2015 2015
Entrez Id: 513
Gene Symbol: ATP5F1D
ATP5F1D 		P30049 ATP synthase F1 subunit delta Transporter 43 0.674 0.500 7.4E-02 0.100 None 1.000 1 1 2018 2018
Entrez Id: 816
Gene Symbol: CAMK2B
CAMK2B 		Q13554 calcium/calmodulin dependent protein kinase II beta Kinase 28 0.626 0.538 0.74 0.100 None 1.000 1 1 2017 2017
Entrez Id: 2782
Gene Symbol: GNB1
GNB1 		P62873 G protein subunit beta 1 Enzyme 34 0.617 0.731 1.00 0.100 None 1.000 1 3 2016 2016
Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL 		Q9H1B7 interferon regulatory factor 2 binding protein like 97 0.631 0.462 0.84 0.100 None 0 1
Entrez Id: 6016
Gene Symbol: RIT1
RIT1 		Q92963 Ras like without CAAX 1 Enzyme modulator 44 0.527 0.808 0.13 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: 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: 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: 6833
Gene Symbol: ABCC8
ABCC8 		Q09428 ATP binding cassette subfamily C member 8 Transporter 32 0.474 0.846 8.0E-24 0.100 None 0 2
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: 9091
Gene Symbol: PIGQ
PIGQ 		Q9BRB3 phosphatidylinositol glycan anchor biosynthesis class Q Enzyme 54 0.610 0.577 1.4E-06 0.100 None 0 1
Entrez Id: 8621
Gene Symbol: CDK13
CDK13 		Q14004 cyclin dependent kinase 13 Kinase 100 0.606 0.692 0.91 0.100 None 0 1
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6 		O60733 phospholipase A2 group VI Enzyme modulator 49 0.476 0.846 2.5E-10 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: 81603
Gene Symbol: TRIM8
TRIM8 		Q9BZR9 tripartite motif containing 8 43 0.588 0.731 0.99 0.100 None 0 1
Entrez Id: 80155
Gene Symbol: NAA15
NAA15 		Q9BXJ9 N-alpha-acetyltransferase 15, NatA auxiliary subunit Enzyme 16 0.700 0.423 1.00 0.100 None 0 1
Entrez Id: 79621
Gene Symbol: RNASEH2B
RNASEH2B 		Q5TBB1 ribonuclease H2 subunit B 14 0.595 0.615 3.3E-09 0.100 None 0 1
Entrez Id: 7862
Gene Symbol: BRPF1
BRPF1 		P55201 bromodomain and PHD finger containing 1 15 0.686 0.385 1.00 0.100 None 0 1
Entrez Id: 7466
Gene Symbol: WFS1
WFS1 		O76024 wolframin ER transmembrane glycoprotein 24 0.528 0.846 1.6E-38 0.100 None 0 1
Entrez Id: 54870
Gene Symbol: QRICH1
QRICH1 		Q2TAL8 glutamine rich 1 Enzyme modulator 34 0.716 0.423 1.00 0.100 None 0 1
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2 		Q9UJ55 MAGE family member L2 Cell adhesion 91 0.560 0.654 0.98 0.100 None 0 1