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: 9364
Gene Symbol: RAB28
RAB28 		RAB28, member RAS oncogene family 0.792 0.077 2.5E-02
CUI: C3809299
Disease: CONE-ROD DYSTROPHY 18
CONE-ROD DYSTROPHY 18 		disease 0.900 limited 1.000 4 0 2013 2018
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: 494513
Gene Symbol: PJVK
PJVK 		pejvakin 0.769 0.115 3.7E-08
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		disease 0.330 definitive 1.000 9 0 2006 2017
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: 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: 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: 124093
Gene Symbol: CCDC78
CCDC78 		coiled-coil domain containing 78 0.760 0.115 3.0E-31
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy 		disease 0.500 limited 1.000 2 0 2012 2015
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: 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: 57158
Gene Symbol: JPH2
JPH2 		junctophilin 2 0.736 0.154 4.5E-05
CUI: C3151264
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17 		disease 0.700 moderate 1.000 8 0 2004 2019
Entrez Id: 10295
Gene Symbol: BCKDK
BCKDK 		branched chain keto acid dehydrogenase kinase 0.769 0.154 5.7E-05
CUI: C3554078
Disease: BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY
BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY 		disease 0.900 definitive 1.000 6 0 1994 2016
Entrez Id: 100303755
Gene Symbol: PET117
PET117 		PET117 cytochrome c oxidase chaperone 0.769 0.154 3.2E-02
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		disease 0.300 limited 1.000 3 0 2015 2017
Entrez Id: 100303755
Gene Symbol: PET117
PET117 		PET117 cytochrome c oxidase chaperone 0.769 0.154 3.2E-02
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 2015 2017
Entrez Id: 100303755
Gene Symbol: PET117
PET117 		PET117 cytochrome c oxidase chaperone 0.769 0.154 3.2E-02
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 2015 2017
Entrez Id: 100303755
Gene Symbol: PET117
PET117 		PET117 cytochrome c oxidase chaperone 0.769 0.154 3.2E-02
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 2015 2017
Entrez Id: 100303755
Gene Symbol: PET117
PET117 		PET117 cytochrome c oxidase chaperone 0.769 0.154 3.2E-02
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 2015 2017
Entrez Id: 100303755
Gene Symbol: PET117
PET117 		PET117 cytochrome c oxidase chaperone 0.769 0.154 3.2E-02
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 2015 2017
Entrez Id: 100303755
Gene Symbol: PET117
PET117 		PET117 cytochrome c oxidase chaperone 0.769 0.154 3.2E-02
CUI: C2931891
Disease: Necrotizing encephalopathy, infantile subacute, of Leigh
Necrotizing encephalopathy, infantile subacute, of Leigh 		disease 0.300 limited 1.000 3 0 2015 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: 5271
Gene Symbol: SERPINB8
SERPINB8 		serpin family B member 8 0.792 0.154 2.8E-09
CUI: C1838440
Disease: ICHTHYOSIS EXFOLIATIVA
ICHTHYOSIS EXFOLIATIVA 		disease 0.510 limited 1.000 2 0 2002 2016
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: 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