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: 2741
Gene Symbol: GLRA1
GLRA1 		P23415 glycine receptor alpha 1 Ion channel 4 0.628 0.500 1.6E-04 0.110 None 1.000 0 1 2012 2012
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		Q06124 protein tyrosine phosphatase non-receptor type 11 153 0.385 0.923 1.00 0.110 None 1.000 0 1 2013 2013
Entrez Id: 4763
Gene Symbol: NF1
NF1 		P21359 neurofibromin 1 Enzyme modulator 47 0.440 0.885 0.90 0.110 None < 0.001 0 1 2007 2007
Entrez Id: 5476
Gene Symbol: CTSA
CTSA 		P10619 cathepsin A Enzyme 13 0.619 0.731 5.9E-09 0.100 None 1.000 3 2 1996 2014
Entrez Id: 8216
Gene Symbol: LZTR1
LZTR1 		Q8N653 leucine zipper like transcription regulator 1 38 0.547 0.808 1.0E-92 0.100 None 1.000 1 1 2018 2018
Entrez Id: 64324
Gene Symbol: NSD1
NSD1 		Q96L73 nuclear receptor binding SET domain protein 1 Epigenetic regulator 54 0.505 0.769 1.00 0.100 None 1.000 1 1 2016 2016
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2 		Q5JU85 IQ motif and Sec7 domain ArfGEF 2 10 0.573 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 1 2017 2017
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 57 0.489 0.769 1.00 0.100 None 1.000 1 2 2015 2015
Entrez Id: 402569
Gene Symbol: KPNA7
KPNA7 		A9QM74 karyopherin subunit alpha 7 1 0.805 0.308 3.4E-15 0.100 None 1.000 1 1 2016 2016
Entrez Id: 80208
Gene Symbol: SPG11
SPG11 		Q96JI7 SPG11 vesicle trafficking associated, spatacsin 27 0.576 0.538 1.6E-39 0.100 None 1.000 1 2 2009 2009
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: 6323
Gene Symbol: SCN1A
SCN1A 		P35498 sodium voltage-gated channel alpha subunit 1 Ion channel 39 0.477 0.808 1.00 0.100 None 0 1
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		Q8NFJ9 Bardet-Biedl syndrome 1 29 0.593 0.692 3.4E-12 0.100 None 0 1
Entrez Id: 6884
Gene Symbol: TAF13
TAF13 		Q15543 TATA-box binding protein associated factor 13 Nucleic acid binding 5 0.716 0.385 1.6E-02 0.100 None 0 2
Entrez Id: 6942
Gene Symbol: TCF20
TCF20 		Q9UGU0 transcription factor 20 Transcription factor 18 0.644 0.423 1.00 0.100 None 0 2
Entrez Id: 7274
Gene Symbol: TTPA
TTPA 		P49638 alpha tocopherol transfer protein Transporter 17 0.612 0.577 1.4E-03 0.100 None 0 1
Entrez Id: 7874
Gene Symbol: USP7
USP7 		Q93009 ubiquitin specific peptidase 7 Enzyme 34 0.538 0.808 1.00 0.100 None 0 1
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D 		O14686 lysine methyltransferase 2D 26 0.465 0.808 1.00 0.100 None 0 1
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A 		Q14683 structural maintenance of chromosomes 1A 24 0.509 0.808 1.00 0.100 None 0 1
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3 		P20807 calpain 3 Enzyme 34 0.564 0.615 3.6E-19 0.100 None 0 1
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1 		Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 81 0.534 0.769 1.00 0.100 None 0 2
Entrez Id: 55023
Gene Symbol: PHIP
PHIP 		Q8WWQ0 pleckstrin homology domain interacting protein Epigenetic regulator 76 0.595 0.769 1.00 0.100 None 0 8
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: 101929328
Gene Symbol: KCNMA1-AS1
KCNMA1-AS1 		KCNMA1 antisense RNA 1 37 0.705 0.654 0.100 None 0 1