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: 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 0.954 614 284 1966 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 0.950 548 490 1992 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 0.919 498 80 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: 4763
Gene Symbol: NF1
NF1
neurofibromin 1 0.458 0.724 1.00
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 1.000 definitive 0.951 445 358 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 0.957 412 375 1973 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: 2717
Gene Symbol: GLA
GLA
galactosidase alpha 0.588 0.621 1.00
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
disease 1.000 definitive 0.978 356 194 1967 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 0.972 323 64 1989 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 0.985 293 153 1994 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 0.996 274 10 1990 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 0.987 246 91 1990 2018
Entrez Id: 2548
Gene Symbol: GAA
GAA
glucosidase alpha, acid 0.607 0.655 1.9E-17
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
disease 1.000 definitive 0.956 237 139 1965 2018
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
myosin heavy chain 7 0.564 0.483 3.7E-16
Cardiomyopathy, Hypertrophic, Familial
disease 0.800 definitive 0.857 231 147 1990 2018
Entrez Id: 6794
Gene Symbol: STK11
STK11
serine/threonine kinase 11 0.467 0.655 0.99
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome
disease 1.000 definitive 0.969 225 47 1949 2018
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase, non-receptor type 11 0.429 0.828 1.00
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
disease 1.000 definitive 0.957 224 54 2001 2018
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: 215
Gene Symbol: ABCD1
ABCD1
ATP binding cassette subfamily D member 1 0.604 0.690 1.00
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
disease 1.000 definitive 0.933 206 57 1982 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: 2395
Gene Symbol: FXN
FXN
frataxin 0.527 0.586 0.33
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1
disease 0.800 definitive 0.966 158 12 1996 2018
Entrez Id: 999
Gene Symbol: CDH1
CDH1
cadherin 1 0.432 0.759 0.11
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer
disease 0.800 definitive 0.926 144 48 1964 2018
Entrez Id: 6262
Gene Symbol: RYR2
RYR2
ryanodine receptor 2 0.575 0.414 1.00
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
disease 1.000 definitive 0.969 141 31 1990 2018
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
patched 1 0.435 0.759 1.00
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
disease 1.000 definitive 0.974 140 49 1996 2018
Entrez Id: 4771
Gene Symbol: NF2
NF2
neurofibromin 2 0.511 0.621 1.00
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2
disease 1.000 definitive 0.954 139 23 1985 2018
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.417 0.759 1.8E-05
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
disease 1.000 definitive 0.966 133 7 1994 2018