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: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.236 0.962 0.53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
disease 1.000 definitive 0.977 363 23 1988 2020
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
MEFV innate immuity regulator, pyrin 0.440 0.885 1.0E-14
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
disease 1.000 None 0.993 358 20 1993 2020
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
Janus kinase 2 0.385 0.885 0.65
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
disease 1.000 None 0.968 327 5 2005 2020
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
prion protein 0.445 0.923 6.3E-04
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
disease 1.000 strong 0.980 315 21 1988 2020
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
disease 1.000 strong 0.975 303 1 1972 2020
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
ATPase copper transporting beta 0.529 0.654 4.8E-30
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
disease 1.000 definitive 0.980 303 27 1983 2020
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
polycystin 2, transient receptor potential cation channel 0.552 0.731 1.7E-04
Polycystic Kidney, Autosomal Dominant
disease 1.000 definitive 0.984 293 5 1994 2020
Entrez Id: 4160
Gene Symbol: MC4R
MC4R
melanocortin 4 receptor 0.535 0.692 9.2E-04
CUI: C0028754
Disease: Obesity
Obesity
disease 1.000 None 0.961 269 27 1997 2020
Entrez Id: 2157
Gene Symbol: F8
F8
coagulation factor VIII 0.542 0.769 1.00
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
disease 1.000 definitive 0.983 260 15 1977 2020
Entrez Id: 4609
Gene Symbol: MYC
MYC
MYC proto-oncogene, bHLH transcription factor 0.344 0.923 1.00
CUI: C0006413
Disease: Burkitt Lymphoma
Burkitt Lymphoma
disease 1.000 None 0.977 251 1 1982 2020
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
disease 1.000 None 0.961 244 10 1972 2019
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
sodium voltage-gated channel alpha subunit 5 0.513 0.654 0.91
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
disease 1.000 definitive 0.984 242 65 1995 2020
Entrez Id: 6794
Gene Symbol: STK11
STK11
serine/threonine kinase 11 0.435 0.808 0.99
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome
disease 1.000 definitive 0.992 227 7 1997 2019
Entrez Id: 7428
Gene Symbol: VHL
VHL
von Hippel-Lindau tumor suppressor 0.443 0.846 8.0E-02
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome
disease 1.000 None 0.974 216 21 1976 2020
Entrez Id: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.236 0.962 0.53
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
disease 1.000 None 0.953 209 16 1987 2020
Entrez Id: 7276
Gene Symbol: TTR
TTR
transthyretin 0.423 0.885 0.52
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
disease 1.000 None 0.992 205 17 1983 2020
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
disease 1.000 definitive 0.987 202 24 2001 2020
Entrez Id: 695
Gene Symbol: BTK
BTK
Bruton tyrosine kinase 0.464 0.808 1.00
CUI: C0221026
Disease: X-linked agammaglobulinemia
X-linked agammaglobulinemia
disease 1.000 None 0.964 201 3 1975 2020
Entrez Id: 4771
Gene Symbol: NF2
NF2
neurofibromin 2 0.468 0.885 1.00
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2
disease 1.000 definitive 0.987 199 2 1991 2020
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
superoxide dismutase 1 0.379 0.962 0.18
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1
disease 1.000 strong 0.980 191 19 1976 2019
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
lamin A/C 0.384 0.885 1.00
CUI: C0033300
Disease: Progeria
Progeria
disease 1.000 None 0.967 183 17 2003 2020
Entrez Id: 1050
Gene Symbol: CEBPA
CEBPA
CCAAT enhancer binding protein alpha 0.496 0.692 0.55
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
disease 1.000 definitive 0.985 180 2 1992 2020
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
ATP binding cassette subfamily D member 1 0.563 0.731 1.00
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
disease 1.000 definitive 0.977 178 4 1981 2020
Entrez Id: 410
Gene Symbol: ARSA
ARSA
arylsulfatase A 0.448 0.923 1.1E-11
CUI: C0023522
Disease: Leukodystrophy, Metachromatic
Leukodystrophy, Metachromatic
disease 1.000 None 0.978 177 23 1975 2019
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
paired box 6 0.450 0.769 1.00
CUI: C0003076
Disease: Aniridia
Aniridia
disease 1.000 None 0.984 176 7 1978 2020