Source: CLINGEN

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 55814
Gene Symbol: BDP1
BDP1 		B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB 0.890 0.154 1.3E-21
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		disease 0.300 limited 1.000 1 0 2013 2013
Entrez Id: 222662
Gene Symbol: LHFPL5
LHFPL5 		LHFPL tetraspan subfamily member 5 0.861 0.192 4.0E-04
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		disease 0.340 definitive 1.000 10 0 2005 2018
Entrez Id: 6327
Gene Symbol: SCN2B
SCN2B 		sodium voltage-gated channel beta subunit 2 0.678 0.192 1.7E-03
CUI: C0264893
Disease: Nodal rhythm disorder
Nodal rhythm disorder 		phenotype 0.300 disputed 1.000 5 0 2009 2016
Entrez Id: 6327
Gene Symbol: SCN2B
SCN2B 		sodium voltage-gated channel beta subunit 2 0.678 0.192 1.7E-03
CUI: C0348626
Disease: Other specified cardiac arrhythmias
Other specified cardiac arrhythmias 		phenotype 0.300 disputed 1.000 5 0 2009 2016
Entrez Id: 6327
Gene Symbol: SCN2B
SCN2B 		sodium voltage-gated channel beta subunit 2 0.678 0.192 1.7E-03
CUI: C0428908
Disease: Sinus Node Dysfunction (disorder)
Sinus Node Dysfunction (disorder) 		disease 0.300 disputed 1.000 5 0 2009 2016
Entrez Id: 6327
Gene Symbol: SCN2B
SCN2B 		sodium voltage-gated channel beta subunit 2 0.678 0.192 1.7E-03
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		disease 0.510 disputed 1.000 5 0 2009 2016
Entrez Id: 6327
Gene Symbol: SCN2B
SCN2B 		sodium voltage-gated channel beta subunit 2 0.678 0.192 1.7E-03
CUI: C1399226
Disease: Ectopic rhythm
Ectopic rhythm 		phenotype 0.300 disputed 1.000 5 0 2009 2016
Entrez Id: 6327
Gene Symbol: SCN2B
SCN2B 		sodium voltage-gated channel beta subunit 2 0.678 0.192 1.7E-03
CUI: C2748542
Disease: CARDIAC CONDUCTION DEFECT, NONSPECIFIC (disorder)
CARDIAC CONDUCTION DEFECT, NONSPECIFIC (disorder) 		disease 0.300 disputed 1.000 5 0 2009 2016
Entrez Id: 6327
Gene Symbol: SCN2B
SCN2B 		sodium voltage-gated channel beta subunit 2 0.678 0.192 1.7E-03
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		disease 0.300 disputed 1.000 5 0 2009 2016
Entrez Id: 161497
Gene Symbol: STRC
STRC 		stereocilin 0.700 0.192 1.8E-15
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		disease 0.320 definitive 1.000 4 0 2001 2019
Entrez Id: 220074
Gene Symbol: LRTOMT
LRTOMT 		leucine rich transmembrane and O-methyltransferase domain containing 0.792 0.192 7.0E-05
CUI: C1969621
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 63
DEAFNESS, AUTOSOMAL RECESSIVE 63 		disease 0.900 definitive 1.000 4 0 2008 2017
Entrez Id: 388551
Gene Symbol: CEACAM16
CEACAM16 		CEA cell adhesion molecule 16, tectorial membrane component 0.805 0.192 1.6E-05
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		disease 0.320 moderate 1.000 4 0 2011 2015
Entrez Id: 55037
Gene Symbol: PTCD3
PTCD3 		pentatricopeptide repeat domain 3 0.769 0.192 2.5E-22
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		disease 0.310 limited 1.000 3 0 2009 2019
Entrez Id: 55037
Gene Symbol: PTCD3
PTCD3 		pentatricopeptide repeat domain 3 0.769 0.192 2.5E-22
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 		disease 0.300 limited 1.000 3 0 2009 2019
Entrez Id: 55037
Gene Symbol: PTCD3
PTCD3 		pentatricopeptide repeat domain 3 0.769 0.192 2.5E-22
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		disease 0.300 limited 1.000 3 0 2009 2019
Entrez Id: 55037
Gene Symbol: PTCD3
PTCD3 		pentatricopeptide repeat domain 3 0.769 0.192 2.5E-22
CUI: C1850598
Disease: Leigh Syndrome due to Mitochondrial Complex III Deficiency
Leigh Syndrome due to Mitochondrial Complex III Deficiency 		disease 0.300 limited 1.000 3 0 2009 2019
Entrez Id: 55037
Gene Symbol: PTCD3
PTCD3 		pentatricopeptide repeat domain 3 0.769 0.192 2.5E-22
CUI: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
Leigh Syndrome due to Mitochondrial Complex IV Deficiency 		disease 0.300 limited 1.000 3 0 2009 2019
Entrez Id: 55037
Gene Symbol: PTCD3
PTCD3 		pentatricopeptide repeat domain 3 0.769 0.192 2.5E-22
CUI: C1850600
Disease: Leigh Syndrome due to Mitochondrial Complex V Deficiency
Leigh Syndrome due to Mitochondrial Complex V Deficiency 		disease 0.300 limited 1.000 3 0 2009 2019
Entrez Id: 55037
Gene Symbol: PTCD3
PTCD3 		pentatricopeptide repeat domain 3 0.769 0.192 2.5E-22
CUI: C2931891
Disease: Necrotizing encephalopathy, infantile subacute, of Leigh
Necrotizing encephalopathy, infantile subacute, of Leigh 		disease 0.300 limited 1.000 3 0 2009 2019
Entrez Id: 10235
Gene Symbol: RASGRP2
RASGRP2 		RAS guanyl releasing protein 2 0.769 0.231 0.24
CUI: C4014584
Disease: BLEEDING DISORDER, PLATELET-TYPE, 18
BLEEDING DISORDER, PLATELET-TYPE, 18 		disease 0.700 definitive 1.000 9 0 1998 2018
Entrez Id: 29098
Gene Symbol: RANGRF
RANGRF 		RAN guanine nucleotide release factor 0.751 0.231 2.4E-05
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		disease 0.550 disputed 0.889 6 0 2008 2019
Entrez Id: 340990
Gene Symbol: OTOG
OTOG 		otogelin 0.805 0.231 6.6E-37
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		disease 0.300 definitive 1.000 6 0 1997 2017
Entrez Id: 785
Gene Symbol: CACNB4
CACNB4 		calcium voltage-gated channel auxiliary subunit beta 4 0.653 0.231 3.1E-02
CUI: C0014544
Disease: Epilepsy
Epilepsy 		disease 0.320 disputed 1.000 6 0 1997 2017
Entrez Id: 60561
Gene Symbol: RINT1
RINT1 		RAD50 interactor 1 0.743 0.231 5.3E-13
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		disease 0.300 disputed 1.000 5 0 2001 2016
Entrez Id: 125336
Gene Symbol: LOXHD1
LOXHD1 		lipoxygenase homology domains 1 0.792 0.231 5.6E-26
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		disease 0.310 definitive 1.000 3 0 2009 2016