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: 472
Gene Symbol: ATM
ATM
ATM serine/threonine kinase 0.374 0.885 5.6E-47
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
group 0.100 None 1.000 233 561 1989 2018
Entrez Id: 80204
Gene Symbol: FBXO11
FBXO11
F-box protein 11 0.604 0.692 1.00
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
group 0.100 None 1.000 187 321 1994 2017
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: 100529097
Gene Symbol: RPL36A-HNRNPH2
RPL36A-HNRNPH2
RPL36A-HNRNPH2 readthrough 0.861 0.154 0.36
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
disease 0.100 None 1.000 162 135 1989 2018
Entrez Id: 160140
Gene Symbol: C11orf65
C11orf65
chromosome 11 open reading frame 65 0.670 0.462 2.0E-14
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
group 0.100 None 1.000 159 220 1996 2018
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
lamin A/C 0.384 0.885 1.00
Hereditary Motor and Sensory-Neuropathy Type II
disease 0.100 None 1.000 154 87 1990 2018
Entrez Id: 80204
Gene Symbol: FBXO11
FBXO11
F-box protein 11 0.604 0.692 1.00
Hereditary Nonpolyposis Colorectal Cancer
disease 0.100 None 1.000 140 236 1997 2019
Entrez Id: 4763
Gene Symbol: NF1
NF1
neurofibromin 1 0.440 0.885 0.90
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
group 0.100 None 1.000 139 215 1990 2018
Entrez Id: 80204
Gene Symbol: FBXO11
FBXO11
F-box protein 11 0.604 0.692 1.00
Hereditary Nonpolyposis Colorectal Neoplasms
group 0.100 None 1.000 125 273 1991 2017
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
mutY DNA glycosylase 0.521 0.769 1.3E-18
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
group 0.100 None 1.000 123 83 2001 2017
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
partner and localizer of BRCA2 0.485 0.769 3.0E-19
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
group 0.100 None 1.000 110 293 2007 2017
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
checkpoint kinase 2 0.460 0.808 1.2E-24
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
group 0.100 None 1.000 106 133 1999 2019
Entrez Id: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.236 0.962 0.53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
disease 0.100 None 1.000 99 39 1990 2018
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3
disease 0.100 None 1.000 81 16 2002 2016
Entrez Id: 6392
Gene Symbol: SDHD
SDHD
succinate dehydrogenase complex subunit D 0.472 0.885 0.34
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
group 0.100 None 1.000 72 31 1998 2016
Entrez Id: 5925
Gene Symbol: RB1
RB1
RB transcriptional corepressor 1 0.444 0.885 1.00
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
group 0.100 None 1.000 71 103 1989 2018
Entrez Id: 875
Gene Symbol: CBS
CBS
cystathionine beta-synthase 0.465 0.885 3.1E-05
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
disease 0.100 None 1.000 65 24 1991 2018
Entrez Id: 1211
Gene Symbol: CLTA
CLTA
clathrin light chain A 0.628 0.654 0.96
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY
disease 0.100 None 1.000 64 66 2001 2017
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
folliculin 0.537 0.885 0.79
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
group 0.100 None 1.000 59 58 2000 2019
Entrez Id: 6392
Gene Symbol: SDHD
SDHD
succinate dehydrogenase complex subunit D 0.472 0.885 0.34
Paragangliomas with Sensorineural Hearing Loss
disease 0.100 None 1.000 57 41 2000 2016
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
BRCA1 interacting protein C-terminal helicase 1 0.507 0.731 6.2E-17
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
group 0.100 None 1.000 56 145 2004 2017
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
myosin binding protein C3 0.593 0.385 8.0E-11
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
disease 0.100 None 1.000 51 10 1990 2017
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
cyclin dependent kinase like 5 0.522 0.692 1.00
CUI: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS 1, X-LINKED, JUVENILE
disease 0.100 None 1.000 51 18 1997 2017
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C
RAD51 paralog C 0.533 0.692 6.2E-14
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
group 0.100 None 1.000 50 65 2002 2017
Entrez Id: 80204
Gene Symbol: FBXO11
FBXO11
F-box protein 11 0.604 0.692 1.00
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
disease 0.100 None 1.000 47 52 1994 2017