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: 4204
Gene Symbol: MECP2
MECP2 		P51608 methyl-CpG binding protein 2 Epigenetic regulator 150 0.414 0.846 0.89 0.130 None 1.000 0 1 2008 2017
Entrez Id: 57190
Gene Symbol: SELENON
SELENON 		Q9NZV5 selenoprotein N 25 0.575 0.692 9.8E-10 0.120 None 1.000 0 3 2006 2007
Entrez Id: 6261
Gene Symbol: RYR1
RYR1 		P21817 ryanodine receptor 1 Ion channel 34 0.489 0.808 1.6E-29 0.110 None 1.000 0 1 2007 2007
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		P35555 fibrillin 1 Calcium-binding protein 137 0.417 0.846 1.00 0.110 None 1.000 0 10 2014 2014
Entrez Id: 4617
Gene Symbol: MYF5
MYF5 		P13349 myogenic factor 5 Transcription factor 4 0.686 0.423 2.3E-04 0.110 None 1.000 0 2 2018 2018
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		Q92793 CREB binding protein 40 0.428 0.808 1.00 0.110 None 1.000 0 1 2011 2011
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 2011 2011
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		Q9P2D1 chromodomain helicase DNA binding protein 7 77 0.441 0.846 1.00 0.110 None 1.000 0 1 2007 2007
Entrez Id: 3265
Gene Symbol: HRAS
HRAS 		P01112 HRas proto-oncogene, GTPase Enzyme modulator 71 0.378 0.885 8.0E-02 0.100 None 1.000 9 1 2005 2009
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4 		Q9HBA0 transient receptor potential cation channel subfamily V member 4 Ion channel 30 0.457 0.808 2.2E-16 0.100 None 1.000 4 1 2010 2014
Entrez Id: 23065
Gene Symbol: EMC1
EMC1 		Q8N766 ER membrane protein complex subunit 1 15 0.700 0.462 6.7E-26 0.100 None 1.000 2 1 2016 2017
Entrez Id: 101927895
Gene Symbol: EMC1-AS1
EMC1-AS1 		EMC1 antisense RNA 1 15 0.792 0.385 0.100 None 1.000 2 1 2016 2017
Entrez Id: 6911
Gene Symbol: TBX6
TBX6 		O95947 T-box transcription factor 6 Transcription factor 2 0.659 0.385 6.8E-03 0.100 None 1.000 1 1 2015 2015
Entrez Id: 9820
Gene Symbol: CUL7
CUL7 		Q14999 cullin 7 23 0.633 0.500 2.6E-21 0.100 None 1.000 1 3 2019 2019
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1 		Q8TCU4 ALMS1 centrosome and basal body associated protein 15 0.559 0.808 4.5E-60 0.100 None 1.000 1 1 2018 2018
Entrez Id: 6531
Gene Symbol: SLC6A3
SLC6A3 		Q01959 solute carrier family 6 member 3 Transporter 10 0.453 0.885 1.00 0.100 None 1.000 1 1 2012 2012
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1 		P33897 ATP binding cassette subfamily D member 1 Transporter 37 0.563 0.731 1.00 0.100 None 1.000 1 1 1998 1998
Entrez Id: 1630
Gene Symbol: DCC
DCC 		P43146 DCC netrin 1 receptor 9 0.471 0.808 0.99 0.100 None 1.000 1 1 2017 2017
Entrez Id: 547
Gene Symbol: KIF1A
KIF1A 		Q12756 kinesin family member 1A Cellular structure 44 0.559 0.692 1.00 0.100 None 1.000 1 1 2016 2016
Entrez Id: 89953
Gene Symbol: KLC4
KLC4 		Q9NSK0 kinesin light chain 4 21 0.743 0.308 1.2E-03 0.100 None 1.000 1 3 2019 2019
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 0 2
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3 		P51812 ribosomal protein S6 kinase A3 Kinase 45 0.491 0.846 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: 5832
Gene Symbol: ALDH18A1
ALDH18A1 		P54886 aldehyde dehydrogenase 18 family member A1 Enzyme 39 0.551 0.769 8.1E-04 0.100 None 0 1
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1 		Q9UHF7 transcriptional repressor GATA binding 1 71 0.537 0.769 1.00 0.100 None 0 1