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: 1589
Gene Symbol: CYP21A2
CYP21A2
cytochrome P450 family 21 subfamily A member 2 0.607 0.586 2.2E-04
Hyperandrogenism, Nonclassic Type, due to 21-Hydroxylase Deficiency
disease 0.300 53 35 1985 2016
Entrez Id: 3145
Gene Symbol: HMBS
HMBS
hydroxymethylbilane synthase 0.600 0.552 0.93
CUI: C0268322
Disease: Chester-type porphyria
Chester-type porphyria
disease 0.300 42 34 1990 2015
Entrez Id: 367
Gene Symbol: AR
AR
androgen receptor 0.380 0.793 0.98
Type I familial incomplete male pseudohermaphroditism
disease 0.300 41 20 1991 2004
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
potassium voltage-gated channel subfamily H member 2 0.543 0.586 0.99
CUI: C3276240
Disease: LONG QT SYNDROME 2/3, DIGENIC
LONG QT SYNDROME 2/3, DIGENIC
disease 0.300 30 226 1995 2017
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
potassium voltage-gated channel subfamily H member 2 0.543 0.586 0.99
LONG QT SYNDROME 1/2, DIGENIC (disorder)
disease 0.300 30 226 1995 2017
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
potassium voltage-gated channel subfamily H member 2 0.543 0.586 0.99
LONG QT SYNDROME 2/5, DIGENIC (disorder)
disease 0.300 30 226 1995 2017
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
potassium voltage-gated channel subfamily H member 2 0.543 0.586 0.99
CUI: C3279093
Disease: LONG QT SYNDROME 2/9, DIGENIC
LONG QT SYNDROME 2/9, DIGENIC
disease 0.300 30 226 1995 2017
Entrez Id: 5498
Gene Symbol: PPOX
PPOX
protoporphyrinogen oxidase 0.707 0.241 3.0E-02
VARIEGATE PORPHYRIA, HOMOZYGOUS VARIANT
disease 0.300 29 18 1996 2014
Entrez Id: 2592
Gene Symbol: GALT
GALT
galactose-1-phosphate uridylyltransferase 0.630 0.517 1.4E-06
CUI: C3278146
Disease: GALACTOSEMIA, DUARTE VARIANT
GALACTOSEMIA, DUARTE VARIANT
disease 0.300 27 113 1991 2017
Entrez Id: 351
Gene Symbol: APP
APP
amyloid beta precursor protein 0.430 0.862 6.2E-02
CUI: C1541844
Disease: PRESENILE AND SENILE DEMENTIA
PRESENILE AND SENILE DEMENTIA
disease 0.300 26 11 1991 2005
Entrez Id: 351
Gene Symbol: APP
APP
amyloid beta precursor protein 0.430 0.862 6.2E-02
Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy
disease 0.300 26 11 1991 2005
Entrez Id: 351
Gene Symbol: APP
APP
amyloid beta precursor protein 0.430 0.862 6.2E-02
ALZHEIMER DISEASE, PROTECTION AGAINST
disease 0.300 26 11 1991 2005
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
ryanodine receptor 1 0.545 0.621 2.3E-28
Minicore Myopathy, Moderate, with Hand Involvement
disease 0.300 26 53 1993 2016
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
ryanodine receptor 1 0.545 0.621 2.3E-28
Multicore Myopathy, Moderate, with Hand Involvement
disease 0.300 26 53 1993 2016
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
hexosaminidase subunit alpha 0.616 0.517 1.0E-11
Gm2-Gangliosidosis, Adult Chronic Type
disease 0.300 24 35 1988 2016
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
hexosaminidase subunit alpha 0.616 0.517 1.0E-11
Tay-Sachs Disease, Pseudo-AB Variant
disease 0.300 24 35 1988 2016
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1
sphingomyelin phosphodiesterase 1 0.555 0.759 1.6E-10
CUI: C1843418
Disease: Niemann-Pick Disease, Type F
Niemann-Pick Disease, Type F
disease 0.300 24 0 1991 2016
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1
sphingomyelin phosphodiesterase 1 0.555 0.759 1.6E-10
Niemann-Pick Disease, Intermediate, With Visceral Involvement And Rapid Progression
disease 0.300 24 0 1991 2016
Entrez Id: 3857
Gene Symbol: KRT9
KRT9
keratin 9 0.707 0.207 1.1E-06
CUI: C0022584
Disease: Keratoderma, Palmoplantar, Diffuse
Keratoderma, Palmoplantar, Diffuse
disease 0.300 23 14 1994 2012
Entrez Id: 3857
Gene Symbol: KRT9
KRT9
keratin 9 0.707 0.207 1.1E-06
Keratosis Palmaris et Plantaris Familiaris
disease 0.300 23 14 1994 2012
Entrez Id: 590
Gene Symbol: BCHE
BCHE
butyrylcholinesterase 0.503 0.793 1.1E-12
CUI: C1867467
Disease: Acholinesterasemia
Acholinesterasemia
disease 0.300 22 27 1989 2015
Entrez Id: 590
Gene Symbol: BCHE
BCHE
butyrylcholinesterase 0.503 0.793 1.1E-12
Hypocholinesterasemia, Fluoride-Resistant, Japanese Type
disease 0.300 22 27 1989 2015
Entrez Id: 590
Gene Symbol: BCHE
BCHE
butyrylcholinesterase 0.503 0.793 1.1E-12
CUI: C3889586
Disease: BCHE, FLUORIDE 1 PHENOTYPE
BCHE, FLUORIDE 1 PHENOTYPE
phenotype 0.300 22 27 1989 2015
Entrez Id: 590
Gene Symbol: BCHE
BCHE
butyrylcholinesterase 0.503 0.793 1.1E-12
CUI: C3889588
Disease: BCHE, FLUORIDE 2 PHENOTYPE
BCHE, FLUORIDE 2 PHENOTYPE
phenotype 0.300 22 27 1989 2015
Entrez Id: 590
Gene Symbol: BCHE
BCHE
butyrylcholinesterase 0.503 0.793 1.1E-12
CUI: C3889589
Disease: BCHE, K VARIANT PHENOTYPE
BCHE, K VARIANT PHENOTYPE
phenotype 0.300 22 27 1989 2015