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: 540
Gene Symbol: ATP7B
ATP7B
ATPase copper transporting beta 0.529 0.654 4.8E-30
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
disease 1.000 definitive 0.980 81 179 1983 2020
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
presenilin 1 0.469 0.846 0.97
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3
disease 0.900 None 0.993 81 100 1995 2020
Entrez Id: 2157
Gene Symbol: F8
F8
coagulation factor VIII 0.542 0.769 1.00
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
disease 1.000 definitive 0.983 80 198 1977 2020
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CF transmembrane conductance regulator 0.424 0.885 2.2E-58
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
disease 1.000 None 0.979 73 122 1989 2020
Entrez Id: 367
Gene Symbol: AR
AR
androgen receptor 0.351 0.846 0.99
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
disease 1.000 None 0.966 72 39 1970 2019
Entrez Id: 7276
Gene Symbol: TTR
TTR
transthyretin 0.423 0.885 0.52
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
disease 1.000 None 0.992 72 43 1983 2020
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
mutL homolog 1 0.399 0.808 3.4E-05
Hereditary Non-Polyposis Colon Cancer Type 2
disease 0.710 definitive 1.000 60 98 1994 2017
Entrez Id: 2705
Gene Symbol: GJB1
GJB1
gap junction protein beta 1 0.514 0.731 0.85
Charcot-Marie-Tooth disease, X-linked, 1
disease 1.000 None 1.000 58 72 1993 2019
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
myosin heavy chain 7 0.516 0.692 4.2E-16
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
disease 0.700 strong 1.000 56 113 1961 2017
Entrez Id: 4023
Gene Symbol: LPL
LPL
lipoprotein lipase 0.474 0.808 1.3E-09
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type I
disease 1.000 strong 0.993 55 39 1977 2019
Entrez Id: 1589
Gene Symbol: CYP21A2
CYP21A2
cytochrome P450 family 21 subfamily A member 2 0.525 0.769 2.6E-04
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
disease 0.800 None 0.976 54 36 1980 2020
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
mutS homolog 2 0.406 0.808 0.90
Colorectal cancer, hereditary nonpolyposis, type 1
disease 0.600 strong 1.000 54 84 1993 2017
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
low density lipoprotein receptor 0.449 0.885 9.8E-24
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
disease 0.800 strong 0.977 51 128 1975 2020
Entrez Id: 2629
Gene Symbol: GBA
GBA
glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
disease 1.000 None 0.984 48 95 1983 2020
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
superoxide dismutase 1 0.379 0.962 0.18
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1
disease 1.000 strong 0.980 46 42 1976 2019
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
fibrillin 1 0.417 0.846 1.00
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
disease 1.000 definitive 0.986 44 40 1973 2020
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
ryanodine receptor 1 0.489 0.808 1.6E-29
Malignant hyperthermia susceptibility type 1
disease 0.700 strong 1.000 44 89 1991 2017
Entrez Id: 2717
Gene Symbol: GLA
GLA
galactosidase alpha 0.537 0.769 1.00
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
disease 1.000 definitive 0.992 43 117 1967 2020
Entrez Id: 5053
Gene Symbol: PAH
PAH
phenylalanine hydroxylase 0.516 0.769 6.4E-23
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria
disease 0.800 strong 0.996 43 185 1975 2019
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
sodium voltage-gated channel alpha subunit 1 0.477 0.808 1.00
Early Infantile Epileptic Encephalopathy 6
disease 0.800 None 1.000 43 184 2000 2018
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
spastin 0.579 0.577 1.00
Spastic paraplegia 4, autosomal dominant
disease 1.000 None 1.000 43 26 1991 2019
Entrez Id: 120892
Gene Symbol: LRRK2
LRRK2
leucine rich repeat kinase 2 0.510 0.808 2.6E-30
CUI: C1846862
Disease: PARKINSON DISEASE 8 (disorder)
PARKINSON DISEASE 8 (disorder)
disease 0.930 None 1.000 42 30 2004 2019
Entrez Id: 3145
Gene Symbol: HMBS
HMBS
hydroxymethylbilane synthase 0.559 0.731 0.95
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
disease 1.000 strong 0.983 42 23 1974 2020
Entrez Id: 410
Gene Symbol: ARSA
ARSA
arylsulfatase A 0.448 0.923 1.1E-11
CUI: C0023522
Disease: Leukodystrophy, Metachromatic
Leukodystrophy, Metachromatic
disease 1.000 None 0.978 42 56 1975 2019
Entrez Id: 367
Gene Symbol: AR
AR
androgen receptor 0.351 0.846 0.99
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome
disease 0.800 None 0.989 41 23 1984 2019