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: 6736
Gene Symbol: SRY
SRY
sex determining region Y 0.456 0.808
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
disease 0.700 strong 1.000 24 13 1990 2017
Entrez Id: 6716
Gene Symbol: SRD5A2
SRD5A2
steroid 5 alpha-reductase 2 0.564 0.615
Pseudovaginal Perineoscrotal Hypospadias
disease 0.800 strong 1.000 16 20 1977 2019
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3
nuclear receptor subfamily 2 group E member 3 0.603 0.500
CUI: C1849394
Disease: Enhanced S-Cone Syndrome
Enhanced S-Cone Syndrome
disease 1.000 None 0.974 8 12 2000 2019
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
neurofilament light 0.488 0.769
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
disease 0.950 None 1.000 7 8 2000 2019
Entrez Id: 4535
Gene Symbol: ND1
ND1
NADH dehydrogenase, subunit 1 (complex I) 0.522 0.769
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber
disease 0.700 None 1.000 6 4 1991 2018
Entrez Id: 4508
Gene Symbol: ATP6
ATP6
ATP synthase F0 subunit 6 0.541 0.731
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
disease 0.500 None 1.000 5 3 1990 2020
Entrez Id: 4541
Gene Symbol: ND6
ND6
NADH dehydrogenase, subunit 6 (complex I) 0.544 0.808
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber
disease 0.900 None 1.000 5 9 1992 2019
Entrez Id: 100134444
Gene Symbol: KCNJ18
KCNJ18
potassium inwardly rectifying channel subfamily J member 18 0.722 0.346
THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2
disease 0.700 limited 1.000 4 5 2010 2016
Entrez Id: 4538
Gene Symbol: ND4
ND4
NADH dehydrogenase, subunit 4 (complex I) 0.546 0.769
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber
disease 0.700 None 1.000 4 5 1988 2019
Entrez Id: 4540
Gene Symbol: ND5
ND5
NADH dehydrogenase, subunit 5 (complex I) 0.531 0.769
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome
disease 0.780 None 1.000 4 6 1997 2020
Entrez Id: 4540
Gene Symbol: ND5
ND5
NADH dehydrogenase, subunit 5 (complex I) 0.531 0.769
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber
disease 0.680 None 1.000 4 10 1991 2018
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
neurofilament light 0.488 0.769
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G
disease 0.600 strong 1.000 4 2 2000 2016
Entrez Id: 4537
Gene Symbol: ND3
ND3
NADH dehydrogenase, subunit 3 (complex I) 0.604 0.654
MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1
disease 0.400 None 1.000 3 3 2001 2010
Entrez Id: 4540
Gene Symbol: ND5
ND5
NADH dehydrogenase, subunit 5 (complex I) 0.531 0.769
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
disease 0.470 None 1.000 3 3 1997 2019
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3
nuclear receptor subfamily 2 group E member 3 0.603 0.500
CUI: C1970163
Disease: RETINITIS PIGMENTOSA 37 (disorder)
RETINITIS PIGMENTOSA 37 (disorder)
disease 0.700 limited 1.000 2 1 2000 2016
Entrez Id: 4508
Gene Symbol: ATP6
ATP6
ATP synthase F0 subunit 6 0.541 0.731
ATAXIA AND POLYNEUROPATHY, ADULT-ONSET
disease 0.400 None 1.000 2 1 2005 2007
Entrez Id: 4508
Gene Symbol: ATP6
ATP6
ATP synthase F0 subunit 6 0.541 0.731
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1
disease 0.400 None 1.000 2 1 2005 2007
Entrez Id: 4512
Gene Symbol: COX1
COX1
cytochrome c oxidase subunit I 0.441 0.885
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease 0.500 None 1.000 2 2 1994 2019
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 2 3 1999 2011
Entrez Id: 4536
Gene Symbol: ND2
ND2
MTND2 0.601 0.615
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber
disease 0.600 None 1.000 2 6 1991 1992
Entrez Id: 4541
Gene Symbol: ND6
ND6
NADH dehydrogenase, subunit 6 (complex I) 0.544 0.808
CUI: C1839040
Disease: LEBER OPTIC ATROPHY AND DYSTONIA
LEBER OPTIC ATROPHY AND DYSTONIA
disease 0.400 None 1.000 2 2 1994 1996
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
neurofilament light 0.488 0.769
Charcot-Marie-Tooth disease, demyelinating, Type 1F
disease 0.700 None 1.000 2 4 2000 2013
Entrez Id: 148022
Gene Symbol: TICAM1
TICAM1
toll like receptor adaptor molecule 1 0.593 0.846
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 6
disease 0.600 strong 1.000 1 1 2011 2015
Entrez Id: 3514
Gene Symbol: IGKC
IGKC
immunoglobulin kappa constant 0.700 0.423
CUI: C3279824
Disease: Kappa-Chain Deficiency
Kappa-Chain Deficiency
disease 0.600 moderate 1.000 1 0 1969 1985
Entrez Id: 353238
Gene Symbol: PADI6
PADI6
peptidyl arginine deiminase 6 0.760 0.269
PREIMPLANTATION EMBRYONIC LETHALITY 2
disease 0.600 None 1.000 1 2 2016 2016