Source: UNIPROT

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: 4508
Gene Symbol: ATP6
ATP6 		ATP synthase F0 subunit 6 0.541 0.731
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		disease 0.650 None 1.000 1 2 1995 2019
Entrez Id: 4508
Gene Symbol: ATP6
ATP6 		ATP synthase F0 subunit 6 0.541 0.731
CUI: C1328349
Disease: Neuropathy ataxia and retinis pigmentosa
Neuropathy ataxia and retinis pigmentosa 		disease 0.700 None 0.950 1 1 1990 2019
Entrez Id: 4508
Gene Symbol: ATP6
ATP6 		ATP synthase F0 subunit 6 0.541 0.731
CUI: C1839022
Disease: Striatonigral Degeneration, Infantile, Mitochondrial
Striatonigral Degeneration, Infantile, Mitochondrial 		disease 0.400 None 1.000 1 1 1995 1995
Entrez Id: 4508
Gene Symbol: ATP6
ATP6 		ATP synthase F0 subunit 6 0.541 0.731
CUI: C4225415
Disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 3
MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 3 		disease 0.400 None 1.000 1 1 2014 2014
Entrez Id: 4509
Gene Symbol: ATP8
ATP8 		ATP synthase F0 subunit 8 0.666 0.615
CUI: C2748884
Disease: CARDIOMYOPATHY, INFANTILE HYPERTROPHIC
CARDIOMYOPATHY, INFANTILE HYPERTROPHIC 		disease 0.400 None 1.000 1 1 2009 2009
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 1 3 1999 2015
Entrez Id: 4514
Gene Symbol: COX3
COX3 		cytochrome c oxidase III 0.546 0.808
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		disease 0.610 None 1.000 1 3 1993 1994
Entrez Id: 4519
Gene Symbol: CYTB
CYTB 		cytochrome b 0.529 0.808
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		disease 0.640 None 1.000 1 10 1991 2007
Entrez Id: 4519
Gene Symbol: CYTB
CYTB 		cytochrome b 0.529 0.808
CUI: C1708371
Disease: Histiocytoid Cardiomyopathy
Histiocytoid Cardiomyopathy 		disease 0.510 None 1.000 1 1 2000 2000
Entrez Id: 4535
Gene Symbol: ND1
ND1 		NADH dehydrogenase, subunit 1 (complex I) 0.522 0.769
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		disease 0.740 None 1.000 1 1 1996 2014
Entrez Id: 4535
Gene Symbol: ND1
ND1 		NADH dehydrogenase, subunit 1 (complex I) 0.522 0.769
CUI: C1838990
Disease: ALZHEIMER DISEASE, SUSCEPTIBILITY TO, MITOCHONDRIAL
ALZHEIMER DISEASE, SUSCEPTIBILITY TO, MITOCHONDRIAL 		disease 0.300 None 1.000 1 1 1993 1993
Entrez Id: 4536
Gene Symbol: ND2
ND2 		MTND2 0.601 0.615
CUI: C1838990
Disease: ALZHEIMER DISEASE, SUSCEPTIBILITY TO, MITOCHONDRIAL
ALZHEIMER DISEASE, SUSCEPTIBILITY TO, MITOCHONDRIAL 		disease 0.300 None 1.000 1 1 1992 1992
Entrez Id: 4537
Gene Symbol: ND3
ND3 		NADH dehydrogenase, subunit 3 (complex I) 0.604 0.654
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		disease 0.490 None 1.000 1 4 2001 2019
Entrez Id: 4538
Gene Symbol: ND4
ND4 		NADH dehydrogenase, subunit 4 (complex I) 0.546 0.769
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		disease 0.500 None 1.000 1 1 1992 1992
Entrez Id: 4538
Gene Symbol: ND4
ND4 		NADH dehydrogenase, subunit 4 (complex I) 0.546 0.769
CUI: C1839040
Disease: LEBER OPTIC ATROPHY AND DYSTONIA
LEBER OPTIC ATROPHY AND DYSTONIA 		disease 0.300 None 1.000 1 1 1996 1996
Entrez Id: 4539
Gene Symbol: ND4L
ND4L 		NADH dehydrogenase, subunit 4L (complex I) 0.805 0.308
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		disease 0.650 None 0.600 1 4 1995 2018
Entrez Id: 4541
Gene Symbol: ND6
ND6 		NADH dehydrogenase, subunit 6 (complex I) 0.544 0.808
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		disease 0.470 None 1.000 1 1 1994 2019
Entrez Id: 4541
Gene Symbol: ND6
ND6 		NADH dehydrogenase, subunit 6 (complex I) 0.544 0.808
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		disease 0.710 None 1.000 1 1 2001 2001
Entrez Id: 54187
Gene Symbol: NANS
NANS 		N-acetylneuraminate synthase 0.545 0.692
CUI: C1864872
Disease: Spondyloepimetaphyseal dysplasia, Genevieve type
Spondyloepimetaphyseal dysplasia, Genevieve type 		disease 0.700 strong 1.000 1 6 2016 2016
Entrez Id: 5568
Gene Symbol: PRKACG
PRKACG 		protein kinase cAMP-activated catalytic subunit gamma 0.644 0.654
CUI: C4015405
Disease: BLEEDING DISORDER, PLATELET-TYPE, 19
BLEEDING DISORDER, PLATELET-TYPE, 19 		disease 0.700 strong 1.000 1 1 2014 2014
Entrez Id: 11086
Gene Symbol: ADAM29
ADAM29 		ADAM metallopeptidase domain 29 0.760 0.269
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		disease 0.300 None 0 2
Entrez Id: 11086
Gene Symbol: ADAM29
ADAM29 		ADAM metallopeptidase domain 29 0.760 0.269
CUI: C1321872
Disease: Stage IV Skin Melanoma
Stage IV Skin Melanoma 		disease 0.300 None 0 9
Entrez Id: 138883
Gene Symbol: OR1N1
OR1N1 		olfactory receptor family 1 subfamily N member 1 1.000 0.077
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease 0.300 None 0 0
Entrez Id: 148022
Gene Symbol: TICAM1
TICAM1 		toll like receptor adaptor molecule 1 0.593 0.846
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease 0.310 None 1.000 0 0 2019 2019
Entrez Id: 23742
Gene Symbol: NPAP1
NPAP1 		nuclear pore associated protein 1 0.670 0.500
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		disease 0.300 None 0 2