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: 672
Gene Symbol: BRCA1
BRCA1
BRCA1 DNA repair associated 0.367 0.923 9.2E-29
Hereditary Breast and Ovarian Cancer Syndrome
disease 0.800 strong 0.986 800 874 1990 2020
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
BRCA2 DNA repair associated 0.379 0.846 2.4E-25
Hereditary Breast and Ovarian Cancer Syndrome
disease 0.800 strong 0.993 714 1160 1990 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 0.979 532 560 1989 2020
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
low density lipoprotein receptor 0.449 0.885 9.8E-24
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial
disease 0.900 strong 0.982 456 1279 1964 2020
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BRCA1 DNA repair associated 0.367 0.923 9.2E-29
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
disease 0.700 definitive 1.000 451 2254 1976 2019
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
BRCA2 DNA repair associated 0.379 0.846 2.4E-25
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
disease 0.700 definitive 1.000 397 2632 1988 2019
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 0.996 369 299 1975 2019
Entrez Id: 3043
Gene Symbol: HBB
HBB
hemoglobin subunit beta 0.494 0.808 1.2E-09
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia
disease 0.800 strong 0.994 345 85 1961 2019
Entrez Id: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.236 0.962 0.53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
disease 1.000 definitive 0.977 322 153 1988 2020
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
myosin heavy chain 7 0.516 0.692 4.2E-16
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
disease 0.800 definitive 0.988 272 129 1990 2019
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 0.980 256 222 1983 2020
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
gap junction protein beta 2 0.441 0.846 6.6E-16
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
disease 0.900 None 1.000 254 92 1997 2019
Entrez Id: 472
Gene Symbol: ATM
ATM
ATM serine/threonine kinase 0.374 0.885 5.6E-47
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 1.000 None 0.982 253 661 1953 2020
Entrez Id: 5979
Gene Symbol: RET
RET
ret proto-oncogene 0.392 0.885 1.00
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
Multiple endocrine neoplasia Type 2
disease 0.200 None 0.993 251 35 1991 2019
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
myosin heavy chain 7 0.516 0.692 4.2E-16
Cardiomyopathy, Hypertrophic, Familial
disease 0.500 None 0.992 230 94 1985 2019
Entrez Id: 2548
Gene Symbol: GAA
GAA
glucosidase alpha, acid 0.631 0.577 2.8E-18
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
disease 1.000 definitive 0.994 223 165 1965 2019
Entrez Id: 7428
Gene Symbol: VHL
VHL
von Hippel-Lindau tumor suppressor 0.443 0.846 8.0E-02
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome
disease 1.000 None 0.974 214 162 1976 2020
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
mutL homolog 1 0.399 0.808 3.4E-05
Hereditary Nonpolyposis Colorectal Cancer
disease 0.900 None 0.977 199 497 1975 2020
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 1.000 198 78 1961 2017
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
myosin binding protein C3 0.593 0.385 8.0E-11
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
disease 0.700 strong 0.990 191 230 1986 2020
Entrez Id: 4763
Gene Symbol: NF1
NF1
neurofibromin 1 0.440 0.885 0.90
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 1.000 None 0.976 185 764 1977 2020
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
low density lipoprotein receptor 0.449 0.885 9.8E-24
Familial hypercholesterolemia - homozygous
disease 0.200 None 0.992 182 54 1975 2020
Entrez Id: 160140
Gene Symbol: C11orf65
C11orf65
chromosome 11 open reading frame 65 0.670 0.462 2.0E-14
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.100 None 1.000 180 253 1953 2018
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 0.986 179 986 1973 2020
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
mutS homolog 2 0.406 0.808 0.90
Hereditary Nonpolyposis Colorectal Cancer
disease 1.000 definitive 0.983 179 459 1993 2020