Source: BEFREE

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: 3265
Gene Symbol: HRAS
HRAS 		HRas proto-oncogene, GTPase 0.378 0.885 8.0E-02
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		disease 0.570 1.000 7 2 2006 2016
Entrez Id: 5500
Gene Symbol: PPP1CB
PPP1CB 		protein phosphatase 1 catalytic subunit beta 0.601 0.577 1.00
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		disease 0.350 1.000 5 0 2016 2019
Entrez Id: 5605
Gene Symbol: MAP2K2
MAP2K2 		mitogen-activated protein kinase kinase 2 0.534 0.731 0.97
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		disease 0.540 1.000 4 0 2007 2016
Entrez Id: 3265
Gene Symbol: HRAS
HRAS 		HRas proto-oncogene, GTPase 0.378 0.885 8.0E-02
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		disease 0.640 1.000 4 3 2006 2018
Entrez Id: 6654
Gene Symbol: SOS1
SOS1 		SOS Ras/Rac guanine nucleotide exchange factor 1 0.485 0.808 1.00
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		disease 0.330 1.000 3 1 2008 2012
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		actin alpha 1, skeletal muscle 0.540 0.769 1.1E-06
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		disease 0.530 1.000 3 0 2001 2013
Entrez Id: 1111
Gene Symbol: CHEK1
CHEK1 		checkpoint kinase 1 0.492 0.808 3.1E-08
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		disease 0.320 1.000 2 0 2003 2010
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH 		mutY DNA glycosylase 0.521 0.769 1.3E-18
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		disease 0.320 0.500 2 0 2009 2017
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		potassium voltage-gated channel subfamily Q member 1 0.485 0.769 4.5E-08
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		disease 0.520 1.000 2 0 2014 2016
Entrez Id: 3265
Gene Symbol: HRAS
HRAS 		HRas proto-oncogene, GTPase 0.378 0.885 8.0E-02
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		disease 0.310 1.000 1 0 2011 2011
Entrez Id: 5921
Gene Symbol: RASA1
RASA1 		RAS p21 protein activator 1 0.481 0.885 1.00
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		disease 0.310 1.000 1 2 2010 2010
Entrez Id: 3845
Gene Symbol: KRAS
KRAS 		KRAS proto-oncogene, GTPase 0.320 0.923 7.9E-04
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		disease 0.310 1.000 1 0 2011 2011
Entrez Id: 1832
Gene Symbol: DSP
DSP 		desmoplakin 0.514 0.808 1.00
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		disease 0.310 1.000 1 0 2017 2017
Entrez Id: 8036
Gene Symbol: SHOC2
SHOC2 		SHOC2 leucine rich repeat scaffold protein 0.593 0.769 1.00
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		disease 0.310 1.000 1 0 2011 2011
Entrez Id: 367
Gene Symbol: AR
AR 		androgen receptor 0.351 0.846 0.99
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		disease 1.000 limited 0.982 1872 14 1992 2020
Entrez Id: 3064
Gene Symbol: HTT
HTT 		huntingtin 0.548 0.654 1.00
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		disease 1.000 limited 0.987 1271 3 1993 2020
Entrez Id: 203228
Gene Symbol: C9orf72
C9orf72 		C9orf72-SMCR8 complex subunit 0.496 0.769 1.1E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		disease 0.800 limited 0.985 512 3 2009 2020
Entrez Id: 203228
Gene Symbol: C9orf72
C9orf72 		C9orf72-SMCR8 complex subunit 0.496 0.769 1.1E-06
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		disease 0.500 limited 0.987 374 2 2011 2020
Entrez Id: 207
Gene Symbol: AKT1
AKT1 		AKT serine/threonine kinase 1 0.311 0.962 0.98
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease 0.700 limited 0.993 268 7 1999 2020
Entrez Id: 54209
Gene Symbol: TREM2
TREM2 		triggering receptor expressed on myeloid cells 2 0.519 0.769 3.3E-09
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		disease 0.700 limited 0.977 211 13 2007 2020
Entrez Id: 387715
Gene Symbol: ARMS2
ARMS2 		age-related maculopathy susceptibility 2 0.670 0.308 5.2E-04
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		disease 0.700 limited 0.951 164 8 2005 2019
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		ATP binding cassette subfamily A member 4 0.493 0.769 5.3E-48
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease 		phenotype 1.000 limited 0.995 158 12 1997 2020
Entrez Id: 1536
Gene Symbol: CYBB
CYBB 		cytochrome b-245 beta chain 0.452 0.885 1.00
CUI: C0018203
Disease: Chronic granulomatous disease
Chronic granulomatous disease 		group 0.900 limited 0.986 143 6 1987 2020
Entrez Id: 5654
Gene Symbol: HTRA1
HTRA1 		HtrA serine peptidase 1 0.532 0.692 4.9E-04
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		disease 0.500 limited 0.940 129 9 2006 2019
Entrez Id: 207
Gene Symbol: AKT1
AKT1 		AKT serine/threonine kinase 1 0.311 0.962 0.98
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		disease 0.600 limited 0.984 122 1 2002 2020