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: 3423
Gene Symbol: IDS
IDS
iduronate 2-sulfatase 0.616 0.655 0.94
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II
disease 1.000 definitive 1.000 130 65 1991 2017
Entrez Id: 7337
Gene Symbol: UBE3A
UBE3A
ubiquitin protein ligase E3A 0.590 0.483 1.00
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome
disease 1.000 definitive 0.973 129 120 1997 2017
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
mutY DNA glycosylase 0.551 0.621 2.7E-17
Colorectal Adenomatous Polyposis, Autosomal Recessive
disease 0.710 definitive 1.000 128 75 1987 2018
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: 55636
Gene Symbol: CHD7
CHD7
chromodomain helicase DNA binding protein 7 0.504 0.724 1.00
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome
disease 1.000 definitive 0.990 122 141 2004 2018
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
partner and localizer of BRCA2 0.569 0.552 7.3E-20
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease 0.800 definitive 0.964 113 166 2006 2018
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
ATPase copper transporting alpha 0.518 0.655 1.00
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome
disease 1.000 definitive 0.958 112 84 1953 2018
Entrez Id: 2131
Gene Symbol: EXT1
EXT1
exostosin glycosyltransferase 1 0.577 0.655 1.00
CUI: C0015306
Disease: Hereditary Multiple Exostoses
Hereditary Multiple Exostoses
disease 1.000 definitive 0.969 111 6 1995 2018
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1
hypoxanthine phosphoribosyltransferase 1 0.518 0.793 0.94
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome
disease 1.000 definitive 0.974 110 22 1980 2018
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
HRas proto-oncogene, GTPase 0.404 0.828 8.7E-02
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
disease 1.000 definitive 0.985 104 17 1982 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: 4647
Gene Symbol: MYO7A
MYO7A
myosin VIIA 0.639 0.310 1.4E-35
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I
disease 1.000 definitive 0.962 95 122 1956 2018
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.334 0.828 0.82
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome
disease 0.700 definitive 0.947 95 90 1997 2018
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
SMAD family member 4 0.430 0.759 1.00
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome
disease 1.000 definitive 0.969 92 69 1993 2017
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
usherin 0.636 0.345 2.2E-91
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA
disease 0.980 definitive 1.000 91 171 1998 2017
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
folliculin 0.567 0.655 0.92
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas
disease 1.000 definitive 0.907 79 64 1993 2018
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase, non-receptor type 11 0.429 0.828 1.00
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome
disease 1.000 definitive 0.962 78 14 2002 2017
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
checkpoint kinase 2 0.494 0.621 1.2E-23
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease 0.700 definitive 0.947 78 75 2000 2018
Entrez Id: 1674
Gene Symbol: DES
DES
desmin 0.503 0.759 7.7E-03
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
disease 1.000 definitive 1.000 70 41 1989 2017
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
troponin T2, cardiac type 0.611 0.241 2.6E-03
Cardiomyopathy, Familial Hypertrophic, 2
disease 0.900 definitive 70 25 1991 2017
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
myosin heavy chain 7 0.564 0.483 3.7E-16
CUI: C0205700
Disease: Asymmetric Septal Hypertrophy
Asymmetric Septal Hypertrophy
disease 0.600 definitive 66 113 1990 2017
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
mutS homolog 6 0.495 0.586 2.2E-05
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
disease 0.700 definitive 63 61 1994 2017
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
polycystin 1, transient receptor potential channel interacting 0.537 0.621 1.00
CUI: C3149841
Disease: POLYCYSTIC KIDNEY DISEASE 1
POLYCYSTIC KIDNEY DISEASE 1
disease 0.800 definitive 0.923 60 40 1992 2013
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
mutS homolog 2 0.437 0.690 0.91
Hereditary Non-Polyposis Colon Cancer Type 2
disease 0.510 definitive 1.000 58 81 1994 2016
Entrez Id: 3920
Gene Symbol: LAMP2
LAMP2
lysosomal associated membrane protein 2 0.604 0.517 0.30
CUI: C0878677
Disease: Glycogen Storage Disease Type IIb
Glycogen Storage Disease Type IIb
disease 1.000 definitive 1.000 58 30 1995 2018