Source: ALL

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 0.410 0.862 1.8E-28
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
group 0.100 634 596 1989 2018
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BRCA1, DNA repair associated 0.410 0.862 1.8E-28
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
phenotype 0.700 definitive 473 1978 1976 2018
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
BRCA2, DNA repair associated 0.426 0.793 5.5E-24
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
phenotype 0.600 definitive 399 2343 1988 2018
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
gap junction protein beta 2 0.484 0.690 6.5E-16
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
disease 0.800 228 75 1964 2016
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
myosin heavy chain 7 0.564 0.483 3.7E-16
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
disease 0.700 definitive 214 130 1961 2017
Entrez Id: 472
Gene Symbol: ATM
ATM
ATM serine/threonine kinase 0.401 0.862 6.0E-46
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
group 0.100 204 390 1996 2018
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
mutL homolog 1 0.424 0.759 5.1E-05
Hereditary Nonpolyposis Colorectal Neoplasms
group 0.900 definitive 192 95 1994 2017
Entrez Id: 324
Gene Symbol: APC
APC
APC, WNT signaling pathway regulator 0.397 0.828 1.00
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
disease 0.800 178 193 1990 2017
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
mutS homolog 2 0.437 0.690 0.91
Hereditary Nonpolyposis Colorectal Neoplasms
group 0.700 176 84 1991 2018
Entrez Id: 160140
Gene Symbol: C11orf65
C11orf65
chromosome 11 open reading frame 65 0.815 0.345 1.8E-14
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.100 168 160 1978 2018
Entrez Id: 160140
Gene Symbol: C11orf65
C11orf65
chromosome 11 open reading frame 65 0.815 0.345 1.8E-14
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
group 0.100 145 158 1996 2018
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
mutS homolog 6 0.495 0.586 2.2E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
group 0.100 138 270 1997 2018
Entrez Id: 4763
Gene Symbol: NF1
NF1
neurofibromin 1 0.458 0.724 1.00
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
group 0.100 126 163 1990 2017
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
mutS homolog 2 0.437 0.690 0.91
Colorectal cancer, hereditary nonpolyposis, type 1
disease 0.600 definitive 125 120 1993 2017
Entrez Id: 6390
Gene Symbol: SDHB
SDHB
succinate dehydrogenase complex iron sulfur subunit B 0.513 0.690 3.4E-04
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
group 0.100 116 60 1995 2018
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
mutS homolog 6 0.495 0.586 2.2E-05
Hereditary Nonpolyposis Colorectal Neoplasms
group 0.440 113 107 1991 2018
Entrez Id: 100529097
Gene Symbol: RPL36A-HNRNPH2
RPL36A-HNRNPH2
RPL36A-HNRNPH2 readthrough 0.928 0.138 0.75
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
disease 0.100 106 194 1989 2018
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
myosin binding protein C, cardiac 0.621 0.310 8.3E-09
Familial Hypertrophic Cardiomyopathy Type 4
disease 0.900 definitive 104 113 1990 2017
Entrez Id: 875
Gene Symbol: CBS
CBS
cystathionine-beta-synthase 0.503 0.793 2.8E-05
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
disease 0.400 100 75 1984 2017
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
gap junction protein beta 2 0.484 0.690 6.5E-16
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
disease 0.600 100 46 1993 2016
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
mutY DNA glycosylase 0.551 0.621 2.7E-17
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
group 0.100 99 59 2001 2017
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
solute carrier family 26 member 4 0.554 0.759 1.4E-21
CUI: C1863752
Disease: Enlarged Vestibular Aqueduct
Enlarged Vestibular Aqueduct
phenotype 0.100 98 68 1993 2016
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
partner and localizer of BRCA2 0.569 0.552 7.3E-20
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
group 0.100 90 188 2007 2018
Entrez Id: 3091
Gene Symbol: HIF1A
HIF1A
hypoxia inducible factor 1 subunit alpha 0.367 0.793 0.97
CUI: C0003130
Disease: Anoxia
Anoxia
phenotype 0.100 87 0 2002 2009
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
lamin A/C 0.406 0.724 1.00
Hereditary Motor and Sensory-Neuropathy Type II
disease 0.100 83 39 1990 2017