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: 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 1322 74 1989 2018
Entrez Id: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.352 0.793 1.00
CUI: C0025202
Disease: melanoma
melanoma
disease 1.000 0.972 1188 9 1986 2018
Entrez Id: 2322
Gene Symbol: FLT3
FLT3
fms related tyrosine kinase 3 0.503 0.517 0.61
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
disease 1.000 0.979 715 5 1992 2018
Entrez Id: 1756
Gene Symbol: DMD
DMD
dystrophin 0.477 0.724 1.00
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
disease 1.000 0.969 705 0 1982 2018
Entrez Id: 3815
Gene Symbol: KIT
KIT
KIT proto-oncogene receptor tyrosine kinase 0.394 0.759 0.99
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
group 1.000 0.940 636 10 1998 2018
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
methyl-CpG binding protein 2 0.463 0.862 0.78
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
disease 1.000 definitive 0.954 522 25 1966 2018
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
fragile X mental retardation 1 0.492 0.690 0.69
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
disease 1.000 0.979 519 2 1991 2018
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
mutL homolog 1 0.424 0.759 5.1E-05
Hereditary Nonpolyposis Colorectal Cancer
disease 1.000 definitive 0.950 423 24 1992 2018
Entrez Id: 472
Gene Symbol: ATM
ATM
ATM serine/threonine kinase 0.401 0.862 6.0E-46
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 1.000 0.944 372 7 1978 2018
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
Janus kinase 2 0.430 0.690 0.47
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
disease 1.000 0.954 351 7 2005 2018
Entrez Id: 4763
Gene Symbol: NF1
NF1
neurofibromin 1 0.458 0.724 1.00
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 1.000 definitive 0.951 328 5 1988 2018
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 0.957 304 12 1973 2018
Entrez Id: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.251 0.897 0.17
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
disease 1.000 definitive 0.919 298 18 1989 2018
Entrez Id: 2158
Gene Symbol: F9
F9
coagulation factor IX 0.511 0.759 1.00
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
disease 1.000 0.976 292 3 1952 2018
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
polycystin 1, transient receptor potential channel interacting 0.537 0.621 1.00
Polycystic Kidney, Autosomal Dominant
disease 1.000 definitive 0.972 287 0 1989 2018
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
MEFV, pyrin innate immunity regulator 0.494 0.724 1.0E-14
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
disease 1.000 0.954 283 19 1993 2018
Entrez Id: 2717
Gene Symbol: GLA
GLA
galactosidase alpha 0.588 0.621 1.00
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
disease 1.000 definitive 0.978 277 17 1967 2018
Entrez Id: 4221
Gene Symbol: MEN1
MEN1
menin 1 0.463 0.724 1.00
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1
disease 1.000 moderate 0.945 275 6 1980 2018
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
TSC complex subunit 2 0.463 0.690 1.00
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 1.000 definitive 0.985 270 5 1994 2018
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
prion protein 0.474 0.897 7.2E-04
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
disease 1.000 0.946 261 16 1988 2018
Entrez Id: 2395
Gene Symbol: FXN
FXN
frataxin 0.527 0.586 0.33
CUI: C0016719
Disease: Friedreich Ataxia
Friedreich Ataxia
disease 1.000 definitive 0.996 258 5 1990 2018
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
Janus kinase 2 0.430 0.690 0.47
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
disease 1.000 0.945 256 6 2005 2018
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
TSC complex subunit 1 0.403 0.759 1.00
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 1.000 definitive 0.987 231 2 1990 2018
Entrez Id: 4609
Gene Symbol: MYC
MYC
MYC proto-oncogene, bHLH transcription factor 0.382 0.724 1.00
CUI: C0006413
Disease: Burkitt Lymphoma
Burkitt Lymphoma
disease 1.000 0.917 228 1 1983 2018
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.334 0.828 0.82
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
disease 1.000 0.948 210 7 1997 2018