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: 3757
Gene Symbol: KCNH2
KCNH2 		potassium voltage-gated channel subfamily H member 2 0.522 0.731 1.00
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		disease 0.500 None 0.990 19 0 1995 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 19 0 1976 2019
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		superoxide dismutase 1 0.379 0.962 0.18
CUI: C1862941
Disease: Amyotrophic Lateral Sclerosis, Sporadic
Amyotrophic Lateral Sclerosis, Sporadic 		disease 0.600 None 0.973 19 0 1994 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 19 0 1989 2020
Entrez Id: 3440
Gene Symbol: IFNA2
IFNA2 		interferon alpha 2 0.442 0.885
CUI: C0025202
Disease: melanoma
melanoma 		disease 0.400 None 1.000 18 0 1993 2020
Entrez Id: 3827
Gene Symbol: KNG1
KNG1 		kininogen 1 0.481 0.885 3.2E-10
CUI: C0020429
Disease: Hyperalgesia
Hyperalgesia 		phenotype 0.560 None 0.958 17 0 1988 2019
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: 5972
Gene Symbol: REN
REN 		renin 0.370 0.923 2.4E-07
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group 0.600 None 0.969 17 0 1975 2020
Entrez Id: 1956
Gene Symbol: EGFR
EGFR 		epidermal growth factor receptor 0.295 0.885 0.37
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		disease 0.700 None 0.976 16 0 1989 2020
Entrez Id: 351
Gene Symbol: APP
APP 		amyloid beta precursor protein 0.422 0.846 4.7E-02
CUI: C0025261
Disease: Memory Disorders
Memory Disorders 		disease 0.320 None 0.944 16 0 2004 2019
Entrez Id: 351
Gene Symbol: APP
APP 		amyloid beta precursor protein 0.422 0.846 4.7E-02
CUI: C0233794
Disease: Memory impairment
Memory impairment 		phenotype 0.500 None 0.994 16 0 1993 2020
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: 351
Gene Symbol: APP
APP 		amyloid beta precursor protein 0.422 0.846 4.7E-02
CUI: C0751295
Disease: Memory Loss
Memory Loss 		phenotype 0.400 None 1.000 16 0 1997 2020
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		disease 1.000 definitive 0.977 16 0 1975 2020
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 16 0 1995 2020
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: 6331
Gene Symbol: SCN5A
SCN5A 		sodium voltage-gated channel alpha subunit 5 0.513 0.654 0.91
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		disease 0.910 None 1.000 16 0 1995 2018
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		CF transmembrane conductance regulator 0.424 0.885 2.2E-58
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		disease 1.000 None 0.979 15 0 1989 2020