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: 5071
Gene Symbol: PRKN
PRKN
parkin RBR E3 ubiquitin protein ligase 0.464 0.793
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
disease 0.900 1.000 30 22 1995 2017
Entrez Id: 6736
Gene Symbol: SRY
SRY
sex determining region Y 0.500 0.655
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
disease 0.600 24 13 1990 2017
Entrez Id: 6736
Gene Symbol: SRY
SRY
sex determining region Y 0.500 0.655
46,Xy True Hermaphroditism, Sry-Related
disease 0.600 24 13 1991 2017
Entrez Id: 6736
Gene Symbol: SRY
SRY
sex determining region Y 0.500 0.655
TESTIS-DETERMINING FACTOR, X-CHROMOSOMAL, FORMERLY
phenotype 0.500 24 13 1991 2017
Entrez Id: 6736
Gene Symbol: SRY
SRY
sex determining region Y 0.500 0.655
CUI: C2748899
Disease: SEX-REVERSING LOCUS ON X, FORMERLY
SEX-REVERSING LOCUS ON X, FORMERLY
phenotype 0.500 24 13 1991 2017
Entrez Id: 6716
Gene Symbol: SRD5A2
SRD5A2
steroid 5 alpha-reductase 2 0.580 0.483
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis
disease 0.430 0.667 16 2 1992 2010
Entrez Id: 6716
Gene Symbol: SRD5A2
SRD5A2
steroid 5 alpha-reductase 2 0.580 0.483
Pseudovaginal Perineoscrotal Hypospadias
disease 0.770 1.000 16 2 1979 2017
Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
anosmin 1 0.552 0.655
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
disease 0.700 1.000 15 6 1987 2016
Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
anosmin 1 0.552 0.655
CUI: C1563719
Disease: Kallmann Syndrome 1
Kallmann Syndrome 1
disease 0.610 1.000 15 6 1992 2017
Entrez Id: 56652
Gene Symbol: TWNK
TWNK
twinkle mtDNA helicase 0.567 0.517
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3
disease 0.600 12 11 1999 2011
Entrez Id: 56997
Gene Symbol: COQ8A
COQ8A
coenzyme Q8A 0.727 0.276
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
disease 0.700 9 11 1993 2017
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3
nuclear receptor subfamily 2 group E member 3 0.616 0.517
CUI: C0339541
Disease: Goldmann-Favre syndrome (disorder)
Goldmann-Favre syndrome (disorder)
disease 0.950 1.000 8 8 2000 2014
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3
nuclear receptor subfamily 2 group E member 3 0.616 0.517
CUI: C1849394
Disease: Enhanced S-Cone Syndrome
Enhanced S-Cone Syndrome
disease 1.000 0.955 8 8 2000 2016
Entrez Id: 4508
Gene Symbol: ATP6
ATP6
ATP synthase F0 subunit 6 0.596 0.483
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
disease 0.400 1.000 7 3 1992 2014
Entrez Id: 9289
Gene Symbol: ADGRG1
ADGRG1
adhesion G protein-coupled receptor G1 0.667 0.414
POLYMICROGYRIA, BILATERAL FRONTOPARIETAL
disease 0.800 0.955 6 7 2004 2017
Entrez Id: 9897
Gene Symbol: WASHC5
WASHC5
WASH complex subunit 5 0.602 0.621
Spastic paraplegia 8, autosomal dominant
disease 0.720 1.000 6 5 1993 2018
Entrez Id: 57190
Gene Symbol: SELENON
SELENON
selenoprotein N 0.636 0.379
Eichsfeld type congenital muscular dystrophy
disease 1.000 1.000 6 9 1999 2017
Entrez Id: 4508
Gene Symbol: ATP6
ATP6
ATP synthase F0 subunit 6 0.596 0.483
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
disease 0.300 5 3 1993 2007
Entrez Id: 4508
Gene Symbol: ATP6
ATP6
ATP synthase F0 subunit 6 0.596 0.483
Leigh Syndrome Due To Mitochondrial Complex II Deficiency
disease 0.300 5 3 1993 2007
Entrez Id: 4508
Gene Symbol: ATP6
ATP6
ATP synthase F0 subunit 6 0.596 0.483
Leigh Syndrome due to Mitochondrial Complex III Deficiency
disease 0.300 5 3 1993 2007
Entrez Id: 4508
Gene Symbol: ATP6
ATP6
ATP synthase F0 subunit 6 0.596 0.483
Leigh Syndrome due to Mitochondrial Complex IV Deficiency
disease 0.300 5 3 1993 2007
Entrez Id: 4508
Gene Symbol: ATP6
ATP6
ATP synthase F0 subunit 6 0.596 0.483
Leigh Syndrome due to Mitochondrial Complex V Deficiency
disease 0.300 5 3 1993 2007
Entrez Id: 4508
Gene Symbol: ATP6
ATP6
ATP synthase F0 subunit 6 0.596 0.483
Necrotizing encephalopathy, infantile subacute, of Leigh
disease 0.300 5 3 1993 2007
Entrez Id: 4535
Gene Symbol: ND1
ND1
NADH dehydrogenase, subunit 1 (complex I) 0.557 0.655
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber
disease 0.800 1.000 5 4 1991 2017
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
neurofilament light 0.577 0.483
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
disease 0.940 1.000 5 5 1993 2017