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: 58499
Gene Symbol: ZNF462
ZNF462 		Q96JM2 zinc finger protein 462 Transcription factor 4 0.711 0.462 1.00 0.400 strong 1.000 0 1 2003 2003
Entrez Id: 9427
Gene Symbol: ECEL1
ECEL1 		O95672 endothelin converting enzyme like 1 Enzyme 15 0.638 0.308 4.8E-13 0.130 None 1.000 0 1 2013 2014
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1 		Q15672 twist family bHLH transcription factor 1 Transcription factor 9 0.397 0.846 0.34 0.120 None 1.000 0 1 1997 2006
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 4 4 2002 2016
Entrez Id: 6016
Gene Symbol: RIT1
RIT1 		Q92963 Ras like without CAAX 1 Enzyme modulator 44 0.527 0.808 0.13 0.110 None 1.000 0 2 2016 2016
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 5 4 2007 2011
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1 		P78357 contactin associated protein 1 65 0.554 0.577 3.4E-05 0.100 None 1.000 1 1 2017 2017
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: 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: 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: 5888
Gene Symbol: RAD51
RAD51 		Q06609 RAD51 recombinase 26 0.447 0.846 2.7E-02 0.100 None 0 1
Entrez Id: 6261
Gene Symbol: RYR1
RYR1 		P21817 ryanodine receptor 1 Ion channel 34 0.489 0.808 1.6E-29 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: 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: 6942
Gene Symbol: TCF20
TCF20 		Q9UGU0 transcription factor 20 Transcription factor 18 0.644 0.423 1.00 0.100 None 0 1
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1 		Q96PV0 synaptic Ras GTPase activating protein 1 Enzyme modulator 59 0.584 0.577 1.00 0.100 None 0 1
Entrez Id: 84231
Gene Symbol: TRAF7
TRAF7 		Q6Q0C0 TNF receptor associated factor 7 33 0.623 0.423 2.2E-02 0.100 None 0 1
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 125 0.319 0.846 1.00 0.100 None 0 2
Entrez Id: 57479
Gene Symbol: PRR12
PRR12 		Q9ULL5 proline rich 12 24 0.716 0.385 1.00 0.100 None 0 1
Entrez Id: 55975
Gene Symbol: KLHL7
KLHL7 		Q8IXQ5 kelch like family member 7 31 0.581 0.731 4.6E-05 0.100 None 0 1
Entrez Id: 1144
Gene Symbol: CHRND
CHRND 		Q07001 cholinergic receptor nicotinic delta subunit Ion channel 8 0.641 0.462 5.4E-09 0.100 None 0 2
Entrez Id: 122622
Gene Symbol: ADSS1
ADSS1 		Q8N142 adenylosuccinate synthase 1 Enzyme 10 0.722 0.385 2.8E-07 0.100 None 0 1
Entrez Id: 1756
Gene Symbol: DMD
DMD 		P11532 dystrophin 35 0.423 0.923 1.00 0.100 None 0 1
Entrez Id: 22827
Gene Symbol: PUF60
PUF60 		Q9UHX1 poly(U) binding splicing factor 60 37 0.536 0.769 1.00 0.100 None 0 1
Entrez Id: 23345
Gene Symbol: SYNE1
SYNE1 		Q8NF91 spectrin repeat containing nuclear envelope protein 1 21 0.511 0.846 3.2E-52 0.100 None 0 1