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: 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
Entrez Id: 53405
Gene Symbol: CLIC5
CLIC5 		chloride intracellular channel 5 0.792 0.308 1.6E-06
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		disease 0.300 moderate 1.000 3 0 2006 2015
Entrez Id: 8659
Gene Symbol: ALDH4A1
ALDH4A1 		aldehyde dehydrogenase 4 family member A1 0.792 0.231 1.4E-05
CUI: C2931835
Disease: Hyperprolinemia type 2
Hyperprolinemia type 2 		disease 0.730 moderate 1.000 3 0 1960 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: 9750
Gene Symbol: RIPOR2
RIPOR2 		RHO family interacting cell polarization regulator 2 0.792 0.269 0.92
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		disease 0.300 moderate 1.000 2 0 2014 2016
Entrez Id: 53904
Gene Symbol: MYO3A
MYO3A 		myosin IIIA 0.780 0.269 1.8E-45
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		disease 0.310 strong 1.000 5 0 2002 2018
Entrez Id: 126326
Gene Symbol: GIPC3
GIPC3 		GIPC PDZ domain containing family member 3 0.780 0.231 9.3E-03
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		disease 0.350 definitive 1.000 2 0 2007 2014
Entrez Id: 79695
Gene Symbol: GALNT12
GALNT12 		polypeptide N-acetylgalactosaminyltransferase 12 0.780 0.269 9.4E-07
CUI: C1837315
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		disease 0.700 limited 1.000 2 0 2004 2016
Entrez Id: 117531
Gene Symbol: TMC1
TMC1 		transmembrane channel like 1 0.769 0.346 9.2E-19
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		disease 0.400 definitive 1.000 12 0 1996 2017
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: 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: 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: 117531
Gene Symbol: TMC1
TMC1 		transmembrane channel like 1 0.769 0.346 9.2E-19
CUI: C1832978
Disease: Deafness, Autosomal Recessive 7
Deafness, Autosomal Recessive 7 		disease 0.900 definitive 1.000 6 0 1980 2015
Entrez Id: 1428
Gene Symbol: CRYM
CRYM 		crystallin mu 0.769 0.346 2.6E-02
CUI: C4084708
Disease: DEAFNESS, AUTOSOMAL DOMINANT 40
DEAFNESS, AUTOSOMAL DOMINANT 40 		disease 0.700 limited 1.000 6 0 1997 2016
Entrez Id: 79912
Gene Symbol: PYROXD1
PYROXD1 		pyridine nucleotide-disulphide oxidoreductase domain 1 0.769 0.269 6.3E-09
CUI: C4310645
Disease: MYOPATHY, MYOFIBRILLAR, 8
MYOPATHY, MYOFIBRILLAR, 8 		disease 0.700 definitive 1.000 4 0 2016 2019
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: 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