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: 540
Gene Symbol: ATP7B
ATP7B
ATPase copper transporting beta 0.529 0.654 4.8E-30
CUI: C1527352
Disease: Hepatic Form of Wilson Disease
Hepatic Form of Wilson Disease
disease 0.300 None 1.000 51 0 2000 2014
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
erb-b2 receptor tyrosine kinase 2 0.328 0.923 6.0E-03
CUI: C1257931
Disease: Mammary Neoplasms, Human
Mammary Neoplasms, Human
disease 0.300 None 1.000 40 0 2000 2015
Entrez Id: 351
Gene Symbol: APP
APP
amyloid beta precursor protein 0.422 0.846 4.7E-02
CUI: C0546126
Disease: Acute Confusional Senile Dementia
Acute Confusional Senile Dementia
disease 0.300 None 1.000 35 0 1991 2018
Entrez Id: 351
Gene Symbol: APP
APP
amyloid beta precursor protein 0.422 0.846 4.7E-02
CUI: C0750900
Disease: Alzheimer's Disease, Focal Onset
Alzheimer's Disease, Focal Onset
disease 0.300 None 1.000 35 0 1991 2018
Entrez Id: 348
Gene Symbol: APOE
APOE
apolipoprotein E 0.338 0.962 1.9E-03
CUI: C1563937
Disease: Atherogenesis
Atherogenesis
phenotype 0.300 None 1.000 29 0 1997 2018
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
superoxide dismutase 1 0.379 0.962 0.18
Amyotrophic Lateral Sclerosis With Dementia
disease 0.300 None 1.000 25 0 1995 2019
Entrez Id: 5327
Gene Symbol: PLAT
PLAT
plasminogen activator, tissue type 0.445 0.885 5.7E-05
CUI: C0917798
Disease: Cerebral Ischemia
Cerebral Ischemia
disease 0.300 None 1.000 24 0 1995 2011
Entrez Id: 183
Gene Symbol: AGT
AGT
angiotensinogen 0.367 0.923 5.0E-08
CUI: C1383860
Disease: Cardiac Hypertrophy
Cardiac Hypertrophy
phenotype 0.300 None 1.000 21 0 2001 2019
Entrez Id: 5443
Gene Symbol: POMC
POMC
proopiomelanocortin 0.356 0.846 1.2E-04
CUI: C0546878
Disease: Nodding spasm
Nodding spasm
disease 0.300 None 1.000 20 0 1980 2010
Entrez Id: 5443
Gene Symbol: POMC
POMC
proopiomelanocortin 0.356 0.846 1.2E-04
CUI: C0553558
Disease: Jackknife Seizures
Jackknife Seizures
disease 0.300 None 1.000 20 0 1980 2010
Entrez Id: 5443
Gene Symbol: POMC
POMC
proopiomelanocortin 0.356 0.846 1.2E-04
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia
phenotype 0.300 None 1.000 20 0 1980 2010
Entrez Id: 5443
Gene Symbol: POMC
POMC
proopiomelanocortin 0.356 0.846 1.2E-04
CUI: C1527306
Disease: spasmus nutans
spasmus nutans
disease 0.300 None 1.000 20 0 1980 2010
Entrez Id: 3827
Gene Symbol: KNG1
KNG1
kininogen 1 0.481 0.885 3.2E-10
CUI: C0458247
Disease: Allodynia
Allodynia
phenotype 0.300 None 1.000 17 0 1988 2011
Entrez Id: 3827
Gene Symbol: KNG1
KNG1
kininogen 1 0.481 0.885 3.2E-10
CUI: C0751211
Disease: Hyperalgesia, Primary
Hyperalgesia, Primary
phenotype 0.300 None 1.000 17 0 1988 2011
Entrez Id: 3827
Gene Symbol: KNG1
KNG1
kininogen 1 0.481 0.885 3.2E-10
CUI: C0751212
Disease: Hyperalgesia, Secondary
Hyperalgesia, Secondary
phenotype 0.300 None 1.000 17 0 1988 2011
Entrez Id: 3827
Gene Symbol: KNG1
KNG1
kininogen 1 0.481 0.885 3.2E-10
CUI: C0751213
Disease: Tactile Allodynia
Tactile Allodynia
phenotype 0.300 None 1.000 17 0 1988 2011
Entrez Id: 3827
Gene Symbol: KNG1
KNG1
kininogen 1 0.481 0.885 3.2E-10
CUI: C0751214
Disease: Hyperalgesia, Thermal
Hyperalgesia, Thermal
phenotype 0.300 None 1.000 17 0 1988 2011
Entrez Id: 3827
Gene Symbol: KNG1
KNG1
kininogen 1 0.481 0.885 3.2E-10
CUI: C2936719
Disease: Mechanical Allodynia
Mechanical Allodynia
phenotype 0.300 None 1.000 17 0 1988 2011
Entrez Id: 351
Gene Symbol: APP
APP
amyloid beta precursor protein 0.422 0.846 4.7E-02
CUI: C0751292
Disease: Age-Related Memory Disorders
Age-Related Memory Disorders
group 0.300 None 1.000 16 0 2004 2018
Entrez Id: 351
Gene Symbol: APP
APP
amyloid beta precursor protein 0.422 0.846 4.7E-02
CUI: C0751293
Disease: Memory Disorder, Semantic
Memory Disorder, Semantic
phenotype 0.300 None 1.000 16 0 2004 2018
Entrez Id: 351
Gene Symbol: APP
APP
amyloid beta precursor protein 0.422 0.846 4.7E-02
CUI: C0751294
Disease: Memory Disorder, Spatial
Memory Disorder, Spatial
phenotype 0.300 None 1.000 16 0 2004 2018
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
sodium voltage-gated channel alpha subunit 5 0.513 0.654 0.91
CUI: C1721096
Disease: Brugada ECG Pattern
Brugada ECG Pattern
phenotype 0.300 None 1.000 16 0 2000 2018
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
estrogen receptor 1 0.324 0.962 1.00
CUI: C1257931
Disease: Mammary Neoplasms, Human
Mammary Neoplasms, Human
disease 0.300 None 1.000 14 0 2007 2016
Entrez Id: 5327
Gene Symbol: PLAT
PLAT
plasminogen activator, tissue type 0.445 0.885 5.7E-05
CUI: C0151699
Disease: Intracranial Hemorrhage
Intracranial Hemorrhage
group 0.300 None 1.000 14 0 1988 2010
Entrez Id: 5327
Gene Symbol: PLAT
PLAT
plasminogen activator, tissue type 0.445 0.885 5.7E-05
CUI: C0553692
Disease: Brain hemorrhage
Brain hemorrhage
phenotype 0.300 None 1.000 14 0 1988 2010