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 0.367 0.923 9.2E-29
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group 0.150 None 1.000 749 705 1975 2019
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2 		BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group 0.130 None 1.000 704 1021 1996 2019
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		BRCA1 DNA repair associated 0.367 0.923 9.2E-29
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		disease 0.700 definitive 1.000 465 2258 1976 2019
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		superoxide dismutase 1 0.379 0.962 0.18
CUI: C4551993
Disease: Amyotrophic Lateral Sclerosis, Familial
Amyotrophic Lateral Sclerosis, Familial 		disease 0.400 None 1.000 437 20 1989 2020
Entrez Id: 627
Gene Symbol: BDNF
BDNF 		brain derived neurotrophic factor 0.345 0.923 0.66
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		disease 0.600 None 1.000 415 9 2003 2020
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2 		BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		disease 0.700 definitive 1.000 407 2632 1988 2019
Entrez Id: 627
Gene Symbol: BDNF
BDNF 		brain derived neurotrophic factor 0.345 0.923 0.66
CUI: C0011570
Disease: Mental Depression
Mental Depression 		disease 0.600 None 1.000 406 9 2003 2020
Entrez Id: 7157
Gene Symbol: TP53
TP53 		tumor protein p53 0.236 0.962 0.53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group 0.170 None 1.000 367 203 1989 2018
Entrez Id: 6532
Gene Symbol: SLC6A4
SLC6A4 		solute carrier family 6 member 4 0.429 0.808 0.25
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		disease 0.700 None 1.000 352 7 1997 2020
Entrez Id: 6532
Gene Symbol: SLC6A4
SLC6A4 		solute carrier family 6 member 4 0.429 0.808 0.25
CUI: C0344315
Disease: Depressed mood
Depressed mood 		phenotype 0.400 None 1.000 342 5 1997 2020
Entrez Id: 6532
Gene Symbol: SLC6A4
SLC6A4 		solute carrier family 6 member 4 0.429 0.808 0.25
CUI: C0011570
Disease: Mental Depression
Mental Depression 		disease 0.600 None 1.000 338 5 1997 2020
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		mutS homolog 2 0.406 0.808 0.90
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group 0.130 None 1.000 323 309 1990 2018
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		mutL homolog 1 0.399 0.808 3.4E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group 0.150 None 1.000 303 189 1978 2018
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		gap junction protein beta 2 0.441 0.846 6.6E-16
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		disease 0.900 None 1.000 260 95 1997 2019
Entrez Id: 885
Gene Symbol: CCK
CCK 		cholecystokinin 0.453 0.846 3.3E-05
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype 0.100 None 1.000 259 0 2010 2020
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		mutL homolog 1 0.399 0.808 3.4E-05
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		group 0.700 None 1.000 254 221 1976 2018
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		mutS homolog 2 0.406 0.808 0.90
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		group 0.900 definitive 1.000 244 223 1991 2018
Entrez Id: 367
Gene Symbol: AR
AR 		androgen receptor 0.351 0.846 0.99
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms 		group 0.600 None 1.000 242 4 1990 2019
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4 		solute carrier family 26 member 4 0.507 0.885 9.0E-22
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		disease 1.000 definitive 1.000 234 139 1996 2019
Entrez Id: 472
Gene Symbol: ATM
ATM 		ATM serine/threonine kinase 0.374 0.885 5.6E-47
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group 0.100 None 1.000 233 561 1989 2018
Entrez Id: 3064
Gene Symbol: HTT
HTT 		huntingtin 0.548 0.654 1.00
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		group 0.100 None 1.000 231 0 1994 2020
Entrez Id: 207
Gene Symbol: AKT1
AKT1 		AKT serine/threonine kinase 1 0.311 0.962 0.98
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		phenotype 0.100 None 1.000 218 2 2002 2020
Entrez Id: 7276
Gene Symbol: TTR
TTR 		transthyretin 0.423 0.885 0.52
CUI: C0206245
Disease: Amyloid Neuropathies, Familial
Amyloid Neuropathies, Familial 		group 0.700 None 1.000 216 10 1983 2019
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		myosin heavy chain 7 0.516 0.692 4.2E-16
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		disease 0.700 strong 1.000 216 145 1961 2017
Entrez Id: 5594
Gene Symbol: MAPK1
MAPK1 		mitogen-activated protein kinase 1 0.330 0.923 1.00
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype 0.100 None 1.000 213 0 2000 2020