Source: BEFREE

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: 2099
Gene Symbol: ESR1
ESR1
estrogen receptor 1 0.324 0.962 1.00
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease 1.000 None 0.967 3362 40 1983 2020
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BRCA1 DNA repair associated 0.367 0.923 9.2E-29
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease 1.000 strong 0.956 2803 106 1992 2020
Entrez Id: 367
Gene Symbol: AR
AR
androgen receptor 0.351 0.846 0.99
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
disease 1.000 limited 0.982 1872 14 1992 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 1864 104 1989 2020
Entrez Id: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.319 0.846 1.00
CUI: C0025202
Disease: melanoma
melanoma
disease 1.000 None 0.983 1590 14 1986 2020
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease 1.000 strong 0.951 1505 47 1994 2020
Entrez Id: 3064
Gene Symbol: HTT
HTT
huntingtin 0.548 0.654 1.00
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
disease 1.000 limited 0.987 1271 3 1993 2020
Entrez Id: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.236 0.962 0.53
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease 1.000 None 0.973 1165 43 1982 2020
Entrez Id: 2322
Gene Symbol: FLT3
FLT3
fms related receptor tyrosine kinase 3 0.462 0.654 0.61
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
disease 1.000 None 0.985 1058 10 1992 2020
Entrez Id: 1756
Gene Symbol: DMD
DMD
dystrophin 0.423 0.923 1.00
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
disease 1.000 strong 0.980 1038 1 1981 2020
Entrez Id: 3815
Gene Symbol: KIT
KIT
KIT proto-oncogene, receptor tyrosine kinase 0.366 0.808 0.98
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
group 1.000 definitive 0.951 810 15 1995 2020
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
disease 1.000 definitive 0.977 726 35 1975 2020
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
nucleotide binding oligomerization domain containing 2 0.423 0.923 2.0E-30
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
disease 1.000 moderate 0.937 686 34 1998 2019
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
FMRP translational regulator 1 0.473 0.769 0.65
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
disease 1.000 definitive 0.985 655 2 1991 2020
Entrez Id: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.236 0.962 0.53
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease 1.000 None 0.959 635 17 1990 2020
Entrez Id: 324
Gene Symbol: APC
APC
APC regulator of WNT signaling pathway 0.373 0.962 1.00
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
disease 1.000 strong 0.961 583 36 1989 2020
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 0.292 0.923 1.00
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease 1.000 None 0.985 536 8 2001 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 0.983 472 14 1993 2020
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
Janus kinase 2 0.385 0.885 0.65
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
disease 1.000 None 0.975 425 9 2005 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 0.976 423 15 1977 2020
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 0.982 417 9 1953 2020
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 0.992 414 35 1967 2020
Entrez Id: 2158
Gene Symbol: F9
F9
coagulation factor IX 0.465 0.885 1.00
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
disease 1.000 definitive 0.979 402 9 1976 2020
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 0.986 389 20 1973 2020
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
TSC complex subunit 2 0.439 0.808 1.00
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 1.000 definitive 0.980 384 23 1994 2020