Source: CTD_human

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: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		disease 0.640 1.000 1 0 2006 2018
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 1 0 2006 2016
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 1 0 2007 2016
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 21 0 1992 2020
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		disease 1.000 limited 0.981 14 0 1975 2019
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 11 0 1993 2020
Entrez Id: 2548
Gene Symbol: GAA
GAA 		glucosidase alpha, acid 0.631 0.577 2.8E-18
CUI: C0342751
Disease: Generalized glycogen storage disease of infants
Generalized glycogen storage disease of infants 		disease 0.600 limited 0.982 5 0 1976 2019
Entrez Id: 207
Gene Symbol: AKT1
AKT1 		AKT serine/threonine kinase 1 0.311 0.962 0.98
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		disease 0.900 limited 0.865 4 0 2001 2019
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		lamin A/C 0.384 0.885 1.00
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		disease 0.600 limited 0.978 4 0 2000 2020
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1 		nicotinamide nucleotide adenylyltransferase 1 0.656 0.269 3.5E-02
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		disease 0.800 limited 1.000 4 0 2003 2018
Entrez Id: 718
Gene Symbol: C3
C3 		complement C3 0.445 0.885 0.90
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		disease 0.700 limited 1.000 4 0 2007 2020
Entrez Id: 999
Gene Symbol: CDH1
CDH1 		cadherin 1 0.401 0.808 0.15
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease 0.800 limited 1.000 4 0 1991 2019
Entrez Id: 999
Gene Symbol: CDH1
CDH1 		cadherin 1 0.401 0.808 0.15
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		disease 0.700 limited 0.903 4 0 1997 2019
Entrez Id: 3236
Gene Symbol: HOXD10
HOXD10 		homeobox D10 0.590 0.538 6.3E-02
CUI: C0240912
Disease: Vertical Talus
Vertical Talus 		disease 0.740 limited 1.000 3 0 2004 2016
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 3 0 2005 2019
Entrez Id: 8106
Gene Symbol: PABPN1
PABPN1 		poly(A) binding protein nuclear 1 0.674 0.423 0.39
CUI: C0270952
Disease: Muscular Dystrophy, Oculopharyngeal
Muscular Dystrophy, Oculopharyngeal 		disease 0.900 limited 0.979 3 0 1998 2020
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		tripeptidyl peptidase 1 0.551 0.808 6.3E-07
CUI: C0022340
Disease: Late-Infantile Neuronal Ceroid Lipfuscinosis
Late-Infantile Neuronal Ceroid Lipfuscinosis 		disease 0.800 limited 1.000 2 0 1993 2019
Entrez Id: 1297
Gene Symbol: COL9A1
COL9A1 		collagen type IX alpha 1 chain 0.566 0.731 3.1E-19
CUI: C0026760
Disease: Multiple Epiphyseal Dysplasia
Multiple Epiphyseal Dysplasia 		disease 0.700 limited 1.000 2 0 2001 2019
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 2 0 1987 2020
Entrez Id: 207
Gene Symbol: AKT1
AKT1 		AKT serine/threonine kinase 1 0.311 0.962 0.98
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		disease 0.700 limited 0.974 2 0 2005 2020
Entrez Id: 27232
Gene Symbol: GNMT
GNMT 		glycine N-methyltransferase 0.626 0.462 2.8E-03
CUI: C1847720
Disease: Hypermethioninemia due to deficiency of glycine N-methyltransferase
Hypermethioninemia due to deficiency of glycine N-methyltransferase 		disease 0.900 limited 1.000 2 0 2000 2017
Entrez Id: 3248
Gene Symbol: HPGD
HPGD 		15-hydroxyprostaglandin dehydrogenase 0.516 0.731 1.4E-05
CUI: C2678439
Disease: CRANIOOSTEOARTHROPATHY
CRANIOOSTEOARTHROPATHY 		disease 0.710 limited 1.000 2 0 2008 2015
Entrez Id: 4624
Gene Symbol: MYH6
MYH6 		myosin heavy chain 6 0.581 0.615 1.6E-32
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		disease 0.660 limited 1.000 2 0 1984 2019
Entrez Id: 488
Gene Symbol: ATP2A2
ATP2A2 		ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 0.529 0.808 1.00
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		disease 1.000 limited 0.974 2 0 1999 2018
Entrez Id: 5156
Gene Symbol: PDGFRA
PDGFRA 		platelet derived growth factor receptor alpha 0.415 0.808 1.00
CUI: C0206141
Disease: Idiopathic Hypereosinophilic Syndrome
Idiopathic Hypereosinophilic Syndrome 		disease 0.600 limited 0.980 2 0 2003 2019