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: 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: 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 0.917 235 5 1983 2018
Entrez Id: 367
Gene Symbol: AR
AR
androgen receptor 0.380 0.793 0.98
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
disease 1.000 0.940 235 50 1970 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 0.948 230 24 1997 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: 6261
Gene Symbol: RYR1
RYR1
ryanodine receptor 1 0.545 0.621 2.3E-28
Malignant hyperpyrexia due to anesthesia
disease 1.000 0.954 222 101 1990 2018
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
sodium voltage-gated channel alpha subunit 1 0.506 0.517 1.00
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy
disease 1.000 0.968 216 379 2001 2018
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
solute carrier family 26 member 4 0.554 0.759 1.4E-21
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
disease 1.000 0.983 206 120 1993 2018
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: 4854
Gene Symbol: NOTCH3
NOTCH3
notch 3 0.469 0.690 0.87
CUI: C0751587
Disease: CADASIL Syndrome
CADASIL Syndrome
disease 1.000 0.978 197 21 1993 2018
Entrez Id: 695
Gene Symbol: BTK
BTK
Bruton tyrosine kinase 0.524 0.690 1.00
CUI: C0221026
Disease: X-linked agammaglobulinemia
X-linked agammaglobulinemia
disease 1.000 0.937 196 47 1975 2018
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
lamin A/C 0.406 0.724 1.00
CUI: C0033300
Disease: Progeria
Progeria
disease 1.000 0.959 181 26 1993 2018
Entrez Id: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.251 0.897 0.17
CUI: C1261473
Disease: Sarcoma
Sarcoma
group 1.000 strong 0.950 167 3 1987 2018
Entrez Id: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.251 0.897 0.17
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
disease 1.000 0.910 163 13 1987 2017
Entrez Id: 7454
Gene Symbol: WAS
WAS
Wiskott-Aldrich syndrome 0.586 0.690 1.00
CUI: C0043194
Disease: Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome
disease 1.000 0.978 162 15 1980 2018
Entrez Id: 326
Gene Symbol: AIRE
AIRE
autoimmune regulator 0.550 0.621 6.7E-12
Polyglandular Type I Autoimmune Syndrome
disease 1.000 0.945 161 51 1967 2018
Entrez Id: 5979
Gene Symbol: RET
RET
ret proto-oncogene 0.418 0.724 1.00
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
disease 1.000 0.971 160 18 1988 2018
Entrez Id: 1050
Gene Symbol: CEBPA
CEBPA
CCAAT enhancer binding protein alpha 0.533 0.586 0.56
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
disease 1.000 0.987 160 11 1993 2018
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
myelin protein zero 0.535 0.793 0.23
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
disease 1.000 strong 0.992 157 27 1988 2018
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
paired box 6 0.479 0.655 1.00
CUI: C0003076
Disease: Aniridia
Aniridia
disease 1.000 0.972 152 9 1978 2018
Entrez Id: 3145
Gene Symbol: HMBS
HMBS
hydroxymethylbilane synthase 0.600 0.552 0.93
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
disease 1.000 0.992 144 41 1981 2018
Entrez Id: 4023
Gene Symbol: LPL
LPL
lipoprotein lipase 0.504 0.724 7.2E-10
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type I
disease 1.000 0.956 143 47 1981 2018