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: 2157
Gene Symbol: F8
F8
coagulation factor VIII 0.586 0.655 1.00
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
disease 1.000 0.959 80 149 1980 2018
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
ATPase copper transporting beta 0.547 0.621 5.4E-30
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
disease 1.000 0.976 79 135 1983 2018
Entrez Id: 367
Gene Symbol: AR
AR
androgen receptor 0.380 0.793 0.98
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
disease 1.000 0.940 72 26 1970 2018
Entrez Id: 7276
Gene Symbol: TTR
TTR
transthyretin 0.471 0.897 0.55
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
disease 0.700 0.965 72 42 1956 2018
Entrez Id: 7276
Gene Symbol: TTR
TTR
transthyretin 0.471 0.897 0.55
AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED
disease 0.400 72 42 1980 2013
Entrez Id: 7276
Gene Symbol: TTR
TTR
transthyretin 0.471 0.897 0.55
AMYLOID CARDIOMYOPATHY, TRANSTHYRETIN-RELATED
disease 0.400 72 42 1984 2013
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
cystic fibrosis transmembrane conductance regulator 0.453 0.793 1.1E-57
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
disease 1.000 0.948 70 120 1989 2018
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
mutL homolog 1 0.424 0.759 5.1E-05
Hereditary Non-Polyposis Colon Cancer Type 2
disease 0.610 1.000 60 98 1991 2017
Entrez Id: 2705
Gene Symbol: GJB1
GJB1
gap junction protein beta 1 0.527 0.621 0.84
Charcot-Marie-Tooth disease, X-linked, 1
disease 1.000 1.000 58 51 1979 2018
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
myosin heavy chain 7 0.564 0.483 3.7E-16
CUI: C0205700
Disease: Asymmetric Septal Hypertrophy
Asymmetric Septal Hypertrophy
disease 0.600 definitive 56 113 1990 2017
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
myosin heavy chain 7 0.564 0.483 3.7E-16
Idiopathic hypertrophic subaortic stenosis
disease 0.500 56 113 1990 2015
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
myosin heavy chain 7 0.564 0.483 3.7E-16
Cardiomyopathy, Hypertrophic, Familial
disease 0.800 definitive 0.857 56 113 1990 2018
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
myosin heavy chain 7 0.564 0.483 3.7E-16
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
disease 0.700 definitive 56 113 1961 2017
Entrez Id: 4023
Gene Symbol: LPL
LPL
lipoprotein lipase 0.504 0.724 7.2E-10
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type I
disease 1.000 0.956 55 38 1981 2018
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
mutS homolog 2 0.437 0.690 0.91
Hereditary Non-Polyposis Colon Cancer Type 2
disease 0.510 definitive 1.000 54 81 1994 2016
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
mutS homolog 2 0.437 0.690 0.91
Colorectal cancer, hereditary nonpolyposis, type 1
disease 0.600 definitive 54 81 1993 2017
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: 1589
Gene Symbol: CYP21A2
CYP21A2
cytochrome P450 family 21 subfamily A member 2 0.607 0.586 2.2E-04
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
disease 0.600 0.944 53 35 1981 2017
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
low density lipoprotein receptor 0.475 0.828 9.4E-24
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
disease 0.600 0.956 51 127 1980 2018
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
superoxide dismutase 1 0.406 0.931 0.13
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1
disease 0.900 0.958 46 31 1951 2018
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
superoxide dismutase 1 0.406 0.931 0.13
Amyotrophic Lateral Sclerosis, Sporadic
disease 0.800 0.968 46 31 1993 2018
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
superoxide dismutase 1 0.406 0.931 0.13
AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE
disease 0.600 46 31 1993 2016
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
fibrillin 1 0.469 0.690 1.00
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
disease 1.000 definitive 0.957 44 40 1973 2018
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
ryanodine receptor 1 0.545 0.621 2.3E-28
Malignant hyperpyrexia due to anesthesia
disease 1.000 0.954 44 88 1990 2018
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
ryanodine receptor 1 0.545 0.621 2.3E-28
CUI: C1840365
Disease: King Denborough syndrome
King Denborough syndrome
disease 0.620 1.000 44 88 1992 2016