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: 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: 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, Familial Hypertrophic, 1 (disorder)
disease 0.700 definitive 56 113 1961 2017
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: 3949
Gene Symbol: LDLR
LDLR
low density lipoprotein receptor 0.475 0.828 9.4E-24
LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 2
phenotype 0.500 51 127 1986 2015
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: 5053
Gene Symbol: PAH
PAH
phenylalanine hydroxylase 0.575 0.552 7.9E-23
CUI: C2678416
Disease: Hyperphenylalaninemia, Non-Pku Mild
Hyperphenylalaninemia, Non-Pku Mild
disease 0.400 43 183 1988 2014
Entrez Id: 2717
Gene Symbol: GLA
GLA
galactosidase alpha 0.588 0.621 1.00
CUI: C1970820
Disease: Fabry Disease, Cardiac Variant
Fabry Disease, Cardiac Variant
disease 0.600 definitive 42 112 1967 2018
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: 3145
Gene Symbol: HMBS
HMBS
hydroxymethylbilane synthase 0.600 0.552 0.93
Porphyria, Acute Intermittent, Nonerythroid Variant
disease 0.400 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: 875
Gene Symbol: CBS
CBS
cystathionine-beta-synthase 0.503 0.793 2.8E-05
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
disease 0.400 40 54 1984 2017
Entrez Id: 2548
Gene Symbol: GAA
GAA
glucosidase alpha, acid 0.607 0.655 1.9E-17
Cardiac form of generalized glycogenosis
disease 0.500 definitive 40 64 1965 2015
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
potassium voltage-gated channel subfamily Q member 1 0.525 0.586 2.1E-07
LONG QT SYNDROME 1, ACQUIRED, SUSCEPTIBILITY TO
phenotype 0.600 40 192 1996 2015
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
potassium voltage-gated channel subfamily Q member 1 0.525 0.586 2.1E-07
LONG QT SYNDROME 1/2, DIGENIC (disorder)
disease 0.500 40 192 1996 2015
Entrez Id: 4221
Gene Symbol: MEN1
MEN1
menin 1 0.463 0.724 1.00
CUI: C3149237
Disease: MEN1 SOMATIC MUTATIONS
MEN1 SOMATIC MUTATIONS
disease 0.500 moderate 39 18 1997 2015
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
presenilin 1 0.490 0.690 0.98
Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Unusual Plaques
disease 0.500 39 80 1995 2016
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
presenilin 1 0.490 0.690 0.98
Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia
disease 0.800 39 80 1995 2016
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
sodium voltage-gated channel alpha subunit 5 0.527 0.552 0.88
CARDIAC CONDUCTION DEFECT, NONSPECIFIC (disorder)
disease 0.600 33 216 1998 2016
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