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: 23355
Gene Symbol: VPS8
VPS8 		VPS8 subunit of CORVET complex 1.000 0.077 5.1E-08
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		disease 0.500 limited 1.000 3 0 1996 2016
Entrez Id: 7125
Gene Symbol: TNNC2
TNNC2 		troponin C2, fast skeletal type 0.931 0.077 1.6E-02
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		disease 0.300 0 0
Entrez Id: 259236
Gene Symbol: TMIE
TMIE 		transmembrane inner ear 0.890 0.115 7.7E-05
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		disease 0.320 definitive 1.000 7 0 2002 2014
Entrez Id: 64787
Gene Symbol: EPS8L2
EPS8L2 		EPS8 like 2 0.890 0.231 1.5E-06
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		disease 0.300 moderate 1.000 3 0 2013 2017
Entrez Id: 29958
Gene Symbol: DMGDH
DMGDH 		dimethylglycine dehydrogenase 0.890 0.154 2.1E-24
CUI: C1853892
Disease: Dimethylglycine Dehydrogenase Deficiency
Dimethylglycine Dehydrogenase Deficiency 		disease 0.700 limited 1.000 2 0 1997 2016
Entrez Id: 58510
Gene Symbol: PRODH2
PRODH2 		proline dehydrogenase 2 0.890 0.269 2.5E-13
CUI: C0268531
Disease: Hydroxyprolinemia
Hydroxyprolinemia 		phenotype 0.310 limited 1.000 2 0 1982 2016
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: 389207
Gene Symbol: GRXCR1
GRXCR1 		glutaredoxin and cysteine rich domain containing 1 0.861 0.115 3.9E-11
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		disease 0.330 definitive 1.000 6 0 2004 2016
Entrez Id: 51475
Gene Symbol: CABP2
CABP2 		calcium binding protein 2 0.861 0.115 2.5E-03
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		disease 0.310 strong 1.000 5 0 2007 2019
Entrez Id: 643226
Gene Symbol: GRXCR2
GRXCR2 		glutaredoxin and cysteine rich domain containing 2 0.861 0.115 1.0E-07
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		disease 0.300 moderate 1.000 3 0 2014 2018
Entrez Id: 9885
Gene Symbol: OSBPL2
OSBPL2 		oxysterol binding protein like 2 0.861 0.154 0.13
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		disease 0.320 moderate 1.000 2 0 2015 2019
Entrez Id: 163183
Gene Symbol: SYNE4
SYNE4 		spectrin repeat containing nuclear envelope family member 4 0.861 0.115 4.2E-12
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		disease 0.300 moderate 1.000 1 0 2013 2013
Entrez Id: 286262
Gene Symbol: TPRN
TPRN 		taperin 0.839 0.115 7.2E-03
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		disease 0.340 definitive 1.000 6 0 2010 2019
Entrez Id: 8736
Gene Symbol: MYOM1
MYOM1 		myomesin 1 0.839 0.269 1.7E-40
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		disease 0.300 limited 1.000 2 0 2011 2011
Entrez Id: 125972
Gene Symbol: CALR3
CALR3 		calreticulin 3 0.839 0.154 7.0E-10
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		disease 0.300 limited 1.000 1 0 2007 2007
Entrez Id: 54800
Gene Symbol: KLHL24
KLHL24 		kelch like family member 24 0.821 0.115 1.7E-03
CUI: C4310631
Disease: EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SCARRING AND HAIR LOSS
EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SCARRING AND HAIR LOSS 		disease 0.700 strong 1.000 2 0 2016 2018
Entrez Id: 84173
Gene Symbol: ELMOD3
ELMOD3 		ELMO domain containing 3 0.821 0.269 5.0E-16
CUI: C2829267
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 88
DEAFNESS, AUTOSOMAL RECESSIVE 88 		disease 0.700 limited 1.000 1 0 2013 2013
Entrez Id: 84173
Gene Symbol: ELMOD3
ELMOD3 		ELMO domain containing 3 0.821 0.269 5.0E-16
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		disease 0.310 limited 1.000 1 0 2013 2013
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: 283310
Gene Symbol: OTOGL
OTOGL 		otogelin like 0.805 0.269 4.7E-52
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		disease 0.310 definitive 1.000 5 0 2012 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: 124842
Gene Symbol: TMEM132E
TMEM132E 		transmembrane protein 132E 0.805 0.231 4.5E-05
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		disease 0.300 limited 1.000 1 0 2015 2015
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: 57538
Gene Symbol: ALPK3
ALPK3 		alpha kinase 3 0.792 0.462 8.4E-25
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		disease 0.400 strong 1.000 4 0 2001 2016