Source: ORPHANET

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: 4513
Gene Symbol: COX2
COX2 		cytochrome c oxidase subunit II 0.352 0.962
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		disease 0.640 None 1.000 5 0 1999 2015
Entrez Id: 4514
Gene Symbol: COX3
COX3 		cytochrome c oxidase III 0.546 0.808
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		disease 0.400 None 1.000 5 0 1996 2002
Entrez Id: 28444
Gene Symbol: IGHV3-21
IGHV3-21 		immunoglobulin heavy variable 3-21 0.780 0.192
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		disease 0.600 None 0.947 4 0 2005 2018
Entrez Id: 28444
Gene Symbol: IGHV3-21
IGHV3-21 		immunoglobulin heavy variable 3-21 0.780 0.192
CUI: C0855095
Disease: Small Lymphocytic Lymphoma
Small Lymphocytic Lymphoma 		disease 0.300 None 1.000 4 0 2011 2013
Entrez Id: 28444
Gene Symbol: IGHV3-21
IGHV3-21 		immunoglobulin heavy variable 3-21 0.780 0.192
CUI: C1868683
Disease: B-CELL MALIGNANCY, LOW-GRADE
B-CELL MALIGNANCY, LOW-GRADE 		disease 0.310 None 1.000 4 0 2007 2013
Entrez Id: 283120
Gene Symbol: H19
H19 		H19 imprinted maternally expressed transcript 0.494 0.923
CUI: C0332890
Disease: Congenital hemihypertrophy
Congenital hemihypertrophy 		disease 0.410 None 1.000 3 0 2005 2016
Entrez Id: 283120
Gene Symbol: H19
H19 		H19 imprinted maternally expressed transcript 0.494 0.923
CUI: C1856184
Disease: HEMIHYPERPLASIA, ISOLATED
HEMIHYPERPLASIA, ISOLATED 		disease 0.320 None 1.000 3 0 2005 2016
Entrez Id: 4512
Gene Symbol: COX1
COX1 		cytochrome c oxidase subunit I 0.441 0.885
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		disease 0.620 None 1.000 3 0 1999 2011
Entrez Id: 4537
Gene Symbol: ND3
ND3 		NADH dehydrogenase, subunit 3 (complex I) 0.604 0.654
CUI: C2931092
Disease: Maternally Inherited Leigh Syndrome
Maternally Inherited Leigh Syndrome 		disease 0.310 None 1.000 3 0 2005 2012
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC 		RNA, U4atac small nuclear (U12-dependent splicing) 0.556 0.808
CUI: C4319565
Disease: Microcephalic osteodysplastic primordial dwarfism types I and III
Microcephalic osteodysplastic primordial dwarfism types I and III 		disease 0.300 None 1.000 2 0 2012 2013
Entrez Id: 10984
Gene Symbol: KCNQ1OT1
KCNQ1OT1 		KCNQ1 opposite strand/antisense transcript 1 0.534 0.731
CUI: C0332890
Disease: Congenital hemihypertrophy
Congenital hemihypertrophy 		disease 0.400 None 1.000 2 0 2005 2006
Entrez Id: 10984
Gene Symbol: KCNQ1OT1
KCNQ1OT1 		KCNQ1 opposite strand/antisense transcript 1 0.534 0.731
CUI: C1856184
Disease: HEMIHYPERPLASIA, ISOLATED
HEMIHYPERPLASIA, ISOLATED 		disease 0.330 None 1.000 2 0 2005 2008
Entrez Id: 1617
Gene Symbol: DAZ1
DAZ1 		deleted in azoospermia 1 0.705 0.385
CUI: C1507149
Disease: Partial chromosome Y deletion
Partial chromosome Y deletion 		phenotype 0.300 None 1.000 2 0 2002 2010
Entrez Id: 1617
Gene Symbol: DAZ1
DAZ1 		deleted in azoospermia 1 0.705 0.385
CUI: C2931163
Disease: Male sterility due to Y-chromosome deletions
Male sterility due to Y-chromosome deletions 		phenotype 0.300 None 1.000 2 0 2002 2010
Entrez Id: 28395
Gene Symbol: IGHV4-34
IGHV4-34 		immunoglobulin heavy variable 4-34 0.716 0.308
CUI: C0349633
Disease: Hairy cell leukemia variant
Hairy cell leukemia variant 		disease 0.300 None 1.000 2 0 2009 2011
Entrez Id: 3492
Gene Symbol: IGH
IGH 		immunoglobulin heavy locus 0.473 0.654
CUI: C0555202
Disease: Malignant lymphoma - lymphocytic, intermediate differentiation
Malignant lymphoma - lymphocytic, intermediate differentiation 		disease 0.300 None 1.000 2 0 2001 2002
Entrez Id: 406987
Gene Symbol: MIR204
MIR204 		microRNA 204 0.487 0.808
CUI: C4225233
Disease: RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT
RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT 		disease 0.700 moderate 1.000 2 0 2015 2015
Entrez Id: 4512
Gene Symbol: COX1
COX1 		cytochrome c oxidase subunit I 0.441 0.885
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		disease 0.600 None 1.000 2 0 1994 2012
Entrez Id: 4535
Gene Symbol: ND1
ND1 		NADH dehydrogenase, subunit 1 (complex I) 0.522 0.769
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		disease 0.300 None 1.000 2 0 2000 2006
Entrez Id: 4536
Gene Symbol: ND2
ND2 		MTND2 0.601 0.615
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		disease 0.400 None 1.000 2 0 2002 2005
Entrez Id: 4536
Gene Symbol: ND2
ND2 		MTND2 0.601 0.615
CUI: C2931092
Disease: Maternally Inherited Leigh Syndrome
Maternally Inherited Leigh Syndrome 		disease 0.300 None 1.000 2 0 2006 2007
Entrez Id: 4540
Gene Symbol: ND5
ND5 		NADH dehydrogenase, subunit 5 (complex I) 0.531 0.769
CUI: C2931092
Disease: Maternally Inherited Leigh Syndrome
Maternally Inherited Leigh Syndrome 		disease 0.300 None 1.000 2 0 2002 2003
Entrez Id: 4541
Gene Symbol: ND6
ND6 		NADH dehydrogenase, subunit 6 (complex I) 0.544 0.808
CUI: C2931092
Disease: Maternally Inherited Leigh Syndrome
Maternally Inherited Leigh Syndrome 		disease 0.300 None 1.000 2 0 2003 2013
Entrez Id: 4541
Gene Symbol: ND6
ND6 		NADH dehydrogenase, subunit 6 (complex I) 0.544 0.808
CUI: C4304725
Disease: Leber plus disease
Leber plus disease 		disease 0.300 None 1.000 2 0 1994 1996
Entrez Id: 4564
Gene Symbol: TRNH
TRNH 		tRNA 0.597 0.731
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		disease 0.400 None 1.000 2 0 2004 2004